Publikationen
2024
zentrumsübergreifende Publikationen
Bertrand M, Shah G, Pedersen BS, Schulz A, Weise A, Liehr T, Huppke P, DiTroia S, Quinlan AR, Haack TB, Husain RA. De novo AHDC1 deletions identified by genome sequencing in two individuals with Xia-Gibbs syndrome. Mol Syndromol 2024, 15:389-397. PMID: 39359946, PMCID: PMC11444710, DOI: 10.1159/000538918
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain 2024; 147:1197-1205. PMID: 38141063, PMCID: PMC10994549 , DOI: 10.1093/brain/awad434
Hasseli R, Hanses F, Stecher M, Specker C, Weise T, Borgmann S, Hasselberger M, Hertenstein B, Hower M, Hoyer BF, Koll C, Krause A, von Lilienfeld-Toal M, Lorenz HM, Merle U, Nunes de Miranda SM, Pletz MW, Regierer AC, Richter JG, Rieg S, Roemmele C, Ruethrich MM, Schmeiser T, Schulze-Koops H, Strangfeld A, Vehreschild MJGT, Voit F, Voll RE, Vehreschild JJ, Müller-Ladner U, Pfeil A. The protective effect of tumor necrosis factor-alpha inhibitors in COVID-19 in patients with inflammatory rheumatic diseases compared to the general population-A comparison of two German registries. Front Med (Lausanne), 2024 Mar 6:11:1332716. PMID: 38510457, PMCID: PMC10953502, DOI: 10.3389/fmed.2024.1332716
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures. Genet Med. 2024 Dec 17:101347..101347. Online ahead of print. PMID: 39707840, DOI: 10.1016/j.gim.2024
Clara-Hwang A, Stefani S, Lau T, Scala M, Aynekin B, Bernardo P, Madia F, Bakhtadze S, Kaiyrzhanov R, Maroofian R, Zara F, Srinivasan VM, Gowda V, Guliyeva U, Montavont A, Poulat AL, Güleç A, Berger C, Ville DM, de Bellescize J, Cabet S, Wonneberger A, Schulz A, Rodriguez-Palmero A, Chatron N, Lesca G, Per H, Goel H, Brown J, Frey T, Steindl K, Rauch A, Severino M, Houlden H, Nicolaides P, Striano P, Efthymiou S. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurol Genet. 2024 Jul 11;10(4):e200168. eCollection 2024 Aug. PMID: 39035822, DOI: 10.1212/NXG.0000000000200168
A-Zentrum
Franzka P, Mittag S, Chakraborty A, Huber O, Hübner CA. Ubiquitination contributes to the regulation of GDP-mannose pyrophosphorylase B activity. Front Mol Neurosci 2024, 17:1375297.PMID: 38979475, PMCID: PMC11228364 , DOI: 10.3389/fnmol.2024.1375297
Jensen DB, Toft-Bertelsen TL, Barbuskaite D, Stubbe J, Nietzsche S, Capion T, Norager NH, Olsen MH, Sørensen AT, Dimke H, Hübner CA, Juhler M, MacAulay N. The Na+,K+,2Cl- cotransporter, not aquaporin 1, sustains cerebrospinal fluid secretion while controlling brain K+ homeostasis. Adv Sci (Weinh). 2024, 18:e2409120. PMID: 39692709, DOI: 10.1002/advs.202409120
Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. Acta Neuropathol 2024, 147:28. PMID: 38305941, PMCID: PMC10837238 , DOI: 10.1007/s00401-023-02675-w
Manzolillo A, Gresing L, Hübner CA, Franzka P. Knockdown of INPP5K compromises the differentiation of N2A cells. Front Mol Neurosci 2024; 17:1356343. PMID: 38559586, PMCID: PMC10979461 , DOI: 10.3389/fnmol.2024.1356343
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Karimiani EG, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Toosi MB, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med 2024; 26:101034. PMID: 38054405, PMCID: PMC11157690 , DOI: 10.1016/j.gim.2023.101034
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain 2024, 147:2334-2343. PMID: 38527963, PMCID: PMC11224604 , DOI: 10.1093/brain/awae091
Schurig MK, Umeh O, Henze H, Jung MJ, Gresing L, Blanchard V, von Maltzahn J, Hübner CA, Franzka P. Consequences of GMPPB deficiency for neuromuscular development and maintenance. Front Mol Neurosci 2024, 17:1356326. PMID: 38419795, PMCID: PMC10899408 , DOI: 10.3389/fnmol.2024.1356326
Stein G, Aly JS, Manzolillo A, Lange L, Riege K, Hussain I, Heller EA, Cubillos S, Ernst T, Hübner CA, Turecki G, Hoffmann S, Engmann O. Transthyretin Orchestrates Vitamin B12-Induced Stress Resilience. Biol Psychiatry. 2024, 17:S0006-3223(24)01457-4. PMID: 39029777, PMCID: PMC11608149, DOI: 10.1016/j.biopsych.2024.07.009
Seltene Infektionen
Schellong P, Joean O, Pletz MW, Hagel S, Weis S. Treatment of Complicated Gram-Positive Bacteremia and Infective Endocarditis. Drugs. 2024 Dec 25. PMID: 39720961, DOI: 10.1007/s40265-024-02135-z
Wu Q, Carlos AR, Braza F, Bergman ML, Kitoko JZ, Bastos-Amador P, Cuadrado E, Martins R, Oliveira BS, Martins VC, Scicluna BP, Landry JJ, Jung FE, Ademolue TW, Peitzsch M, Almeida-Santos J, Thompson J, Cardoso S, Ventura P, Slot M, Rontogianni S, Ribeiro V, Da Silva Domingues V, Cabral IA, Weis S, Groth M, Ameneiro C, Fidalgo M, Wang F, Demengeot J, Amsen D, Soares MP. Ferritin heavy chain supports stability and function of the regulatory T cell lineage. EMBO J. 2024 Apr;43(8):1445-1483. PMID: 38499786, PMCID: PMC11021483 , DOI: 10.1038/s44318-024-00064-x
Elonen L, Wölfle L, de Laffolie J, Posovszky C, CEDATA–GPGE-Study-Group. Isolated Crohn's Colitis: Is Localization Crucial? Characteristics of Pediatric Patients From the CEDATA-GPGE Registry. Front Pediatr. 2022 May 31:10:875938. PMID: 35712614, PMCID: PMC9194809 , DOI: 10.3389/fped.2022.875938
Seltene hämatologische/hämostaseologische Erkrankungen
Scully M, Antun A, Cataland SR, Coppo P, Dossier C, Biebuyck N, Hassenpflug WA, Kentouche K, Knöbl P, Kremer Hovinga JA, López-Fernández MF, Matsumoto M, Ortel TL, Indranil Bhattacharya WJ, Cronin M, Li H, Mellgård B, Patel M, Patwari P, Xiao S, Zhang P, Wang LT; cTTP Phase 3 Study Investigators. Recombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura. N Engl J Med. 2024 May 2;390(17):1584-1596. PMID: 38692292, DOI: 10.1056/NEJMoa2314793
Igrutinović Z, Hooimeijer HL, Kentouche K, Botha J, Turecek PL, Kokot-Kierepa M, Gazda HT. A Post-Authorization Safety Surveillance Study to Report Clinical Experience with Purified Factor IX Concentrate in Pediatric Patients with Hemophilia B. J Blood Med 2024 Mar 5:15:113-122. PMID: 38481741, PMCID: PMC10933513, DOI: 10.2147/JBM.S425617
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study. Lancet Haematol. 2024 Feb;11(2):e114-e126. PMID: 38302222, DOI: 10.1016/S2352-3026(23)00362-9
Tekbaş A, Schilling K, Fahrner R, Morath O, Malessa C, Bauschke A, Settmacher U, Rauchfuß F. Liver Transplantation for Budd-Chiari Syndrome From Myeloproliferative Neoplasms - Management and Long-Term Results. Transplant Proc. 2024 Oct;56(8):1759-1765. PMID: 39237386, DOI: 10.1016/j.transproceed.2024.08.040
Morath O, Hoffmann J, Schilling K, Hochhaus A, Rachow T, Lang SM. Venous and Arterial Thromboembolism in Lung Cancer Patients: A Retrospective Analysis. J Clin Med. 2024 Jun 27;13(13):3773. PMID: 38999338, PMCID: PMC11242310 , DOI: 10.3390/jcm13133773
Pfrepper C, Klamroth R, Oldenburg J, Holstein K, Eichler H, Hart C, Moehnle P, Schilling K, Trautmann-Grill K, Alrifai M, Ay C, Miesbach W, Knoebl P, Tiede A. Emicizumab for the Treatment of Acquired Hemophilia A: Consensus Recommendations from the GTH-AHA Working Group. Hamostaseologie. 2024 Dec;44(6):466-471. PMID: 38049124. DOI: 10.1055/a-2197-9738
Seltene (neuro-)metabolische Erkrankungen
Hammann N, Lenz D, Bianzano A, Husain RA, Forman E, Bernstein JA, Dattner T, Engelen M, Hanson-Kahn AK, Isidor B, Kotzaeridou U, Tietze A, Trollmann R, Weiß C, Wolffenbuttel BHR, Kölker S, Hoffmann GF, Crushell E, Staufner C, Mohr A, Harting I. MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration. J Inherit Metab Dis. 2024 Sep;47(5):1028-1046. Epub 2024 Jul 1. PMID: 38951950, DOI: 10.1002/jimd.12764
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S. Neurological outcome in long-chain hydroxy fatty acid oxidation disorders. Ann Clin Transl Neurol. 2024 Apr;11(4):883-898.. Epub 2024 Jan 23. PMID: 38263760, DOI: 10.1002/acn3.52002
Pfrimmer C, Smitka M, Muschol N, Husain RA, Huemer M, Hennermann JB, Schuler R, Hahn A. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort. J Neuromuscul Dis. 2024;11(1):167-177. PMID: 38043017, DOI: 10.3233/JND-230164
Werner C, Schmidt S, Kellner C, Burghardt K, Reuken PA, Kloos C, Wolf G. [Striking manifestation and unexpected therapeutic course of diabetes mellitus in a 22-year-old male patient]. Inn Med (Heidelb). 2024 Sep 28. Online ahead of print. PMID: 39342034, DOI: 10.1007/s00108-024-01797-x. Article in German
Mengler K, Garbade SF, Gleich F, Thimm E, May P, Lindner M, Lüsebrink N, Marquardt T, Hübner V, Krämer J, Neugebauer J, Beblo S, Gillitzer C, Grünert SC, Hennermann JB, Kamrath C, Marquardt I, Näke A, Murko S, Schmidt S, Schnabel E, Lommer-Steinhoff S, Hoffmann GF, Beime J, Santer R, Kölker S, Mütze U. Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening. Pediatrics. 2024 Aug 1;154(2):e2023064370. PMID: 38957900, DOI: 10.1542/peds.2023-064370
Heiling B, Kneer K, He W, Lehmann T, Müller N, Kloos C, Grimm A, Axer H. Nerve ultrasound helps to distinguish CIDP patients with diabetes from patients with diabetic polyneuropathy. Sci Rep. 2024 Dec 16;14(1):30504, PMID: 39681614, DOI: 10.1038/s41598-024-82235-8
Seltene Enzephalopathien
Huppke B, Vries H, Blaschek A, Huppke P. Severe Disease Activation after Fingolimod Discontinuation in a Pediatric Multiple Sclerosis Patient: A Case Report and Literature Review. Neuropediatrics. 2024 Dec 20. Online ahead of print. PMID: 39638327, DOI: 10.1055/a-2496-5294
Marten LM, Krätzner R, Salomons GS, Fernandez Ojeda M, Dechent P, Gärtner J, Huppke P, Dreha-Kulaczewski S. Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data. Mol Genet Metab Rep. 2024 Jan 18;38:101053. eCollection 2024 Mar. PMID: 38469086, DOI: 10.1016/j.ymgmr.2024.101053
Greguletz P, Plötz M, Baade-Büttner C, Bien CG, Eisenhut K, Geis C, Handreka R, Klausewitz J, Körtvelyessy P, Kovac S, Kraft A, Lewerenz J, Malter M, Nagel M, von Podewils F, Prüß H, Rada A, Rau J, Rauer S, Rößling R, Seifert-Held T, Siebenbrodt K, Sühs KW, Tauber SC, Thaler F, Wagner J, Wickel J, Leypoldt F, Rittner HL, Sommer C, Villmann C, Doppler K; GENERATE study group. Different pain phenotypes are associated with anti-Caspr2 autoantibodies. J Neurol. 2024 May;271(5):2736-2744. Epub 2024 Feb 22. PMID: 38386048, DOI: 10.1007/s00415-024-12224-4
Jesse S, Riemann M, Schneider H, Ringelstein M, Melzer N, Vogel N, Pfeffer LK, Friese MA, Sühs KW, Hudasch D, Schwenkenbecher P, Günther A, Geis C, Wickel J, Lesser M, Kather A, Leypoldt F, Dargvainiene J, Markewitz R, Wandinger KP, Thaler FS, Kuchling J, Wurdack K, Sabater L, Finke C, Lewerenz J. Frequency, characteristics, and immunological accompaniments of ataxia in anti-NMDAR antibody-associated encephalitis. Front Immunol. 2024 Dec 13;15:1500904.. eCollection 2024. PMID: 39735552, DOI: 10.3389/fimmu.2024.1500904
Schwake C, Ladopoulos T, Häußler V, Kleiter I, Ringelstein M, Aktas O, Kümpfel T, Engels D, Havla J, Hümmert MW, Kretschmer JR, Tkachenko D, Trebst C, Ayroza Galvão Ribeiro Gomes AB, Pröbstel AK, Korporal-Kuhnke M, Wildemann B, Jarius S, Pul R, Pompsch M, Krämer M, Then Bergh F, Gödel C, Schwarz P, Kowarik MC, Rommer PS, Vardakas I, Senel M, Winkelmann A, Retzlaff N, Weber MS, Husseini L, Walter A, Schindler P, Bellmann-Strobl J, Paul F, Gold R, Ayzenberg I; Neuromyelitis Optica Study Group (NEMOS). Apheresis therapies in MOGAD: a retrospective study of 117 therapeutic interventions in 571 attacks. J Neurol Neurosurg Psychiatry. 2024 Nov 4:jnnp-2024-334863. Online ahead of print. PMID: 39496464, DOI: 10.1136/jnnp-2024-334863
Wickel J, Schnetzke U, Sayer-Klink A, Rinke J, Borie D, Dudziak D, Hochhaus A, Heger L, Geis C. Anti-CD19 CAR-T cells are effective in severe idiopathic Lambert-Eaton myasthenic syndrome. Cell Rep Med. 2024 Nov 19;5(11):101794. Epub 2024 Oct 23. PMID: 39447569, DOI: 10.1016/j.xcrm.2024.101794
Ringelstein M, Asseyer S, Lindenblatt G, Fischer K, Pul R, Skuljec J, Revie L, Giglhuber K, Häußler V, Karenfort M, Hellwig K, Paul F, Bellmann-Strobl J, Otto C, Ruprecht K, Ziemssen T, Emmer A, Rothhammer V, Nickel FT, Angstwurm K, Linker R, Laurent SA, Warnke C, Jarius S, Korporal-Kuhnke M, Wildemann B, Wolff S, Seipelt M, Yalachkov Y, Retzlaff N, Zettl UK, Rommer PS, Kowarik MC, Wickel J, Geis C, Hümmert MW, Trebst C, Senel M, Gold R, Klotz L, Kleinschnitz C, Meuth SG, Aktas O, Berthele A, Ayzenberg I; German Neuromyelitis Optica Study Group (NEMOS). Eculizumab Use in Neuromyelitis Optica Spectrum Disorders: Routine Clinical Care Data From a European Cohort. Neurology. 2024 Nov 12;103(9):e209888. Epub 2024 Oct 1. PMID: 39353149, DOI: 10.1212/WNL.0000000000209888
Michalski K, Abdulla T, Kleeman S, Schmidl L, Gómez R, Simorowski N, Vallese F, Prüss H, Heckmann M, Geis C, Furukawa H. Structural and functional mechanisms of anti-NMDAR autoimmune encephalitis. Nat Struct Mol Biol. 2024 Dec;31(12):1975-1986. Epub 2024 Sep 3. PMID: 39227719, doi: 10.1038/s41594-024-01386-4
Winklehner M, Wickel J, Gelpi E, Brämer D, Rauschenberger V, Günther A, Bauer J, Serra AS, Jauk P, Villmann C, Höftberger R, Geis C. Progressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor and GAD65 Antibodies: Case Report and Potential Mechanisms. Neurol Neuroimmunol Neuroinflamm. 2024 Nov;11(6):e200298. Epub 2024 Aug 30. PMID: 39213470, DOI: 10.1212/NXI.0000000000200298
Rohrbacher S, Seefried S, Hartmannsberger B, Annabelle R, Appeltshauser L, Arlt FA, Brämer D, Dresel C, Dorst J, Elmas Z, Franke C, Geis C, Högen T, Krause S, Marziniak M, Mäurer M, Prüss H, Schoeberl F, Schrank B, Steen C, Teichtinger H, Thieme A, Wessely L, Zernecke A, Sommer C, Doppler K. Different Patterns of Autoantibody Secretion by Peripheral Blood Mononuclear Cells in Autoimmune Nodopathies. Neurol Neuroimmunol Neuroinflamm. 2024 Sep;11(5):e200295. Epub 2024 Aug 22. PMID: 39173087, DOI: 10.1212/NXI.0000000000200295
Ritzau-Jost A, Gsell F, Sell J, Sachs S, Montanaro J, Kirmann T, Maaß S, Irani SR, Werner C, Geis C, Sauer M, Shigemoto R, Hallermann S. LGI1 Autoantibodies Enhance Synaptic Transmission by Presynaptic Kv1 Loss and Increased Action Potential Broadening. Neurol Neuroimmunol Neuroinflamm. 2024 Sep;11(5):e200284. Epub 2024 Aug 14. PMID: 39141878, doi: 10.1212/NXI.0000000000200284
Passoke S, Stern C, Häußler V, Kümpfel T, Havla J, Engels D, Jarius S, Wildemann B, Korporal-Kuhnke M, Senel M, Stellmann JP, Warnke C, Grothe M, Schülke R, Gingele S, Kretschmer JR, Klotz L, Walter A, Then Bergh F, Aktas O, Ringelstein M, Ayzenberg I, Schwake C, Kleiter I, Sperber PS, Rust R, Schindler P, Bellmann-Strobl J, Paul F, Kopp B, Trebst C, Hümmert MW; Neuromyelitis Optica Study Group (NEMOS). Cognition in patients with myelin oligodendrocyte glycoprotein antibody-associated disease: a prospective, longitudinal, multicentre study of 113 patients (CogniMOG-Study). J Neurol Neurosurg Psychiatry. 2024 Jul 30:jnnp-2024-333994. Online ahead of print. PMID: 39084862. DOI: 10.1136/jnnp-2024-333994
Faissner S, Motte J, Sgodzai M, Geis C, Haghikia A, Mougiakakos D, Borie D, Schroers R, Gold R. Successful use of anti-CD19 CAR T cells in severe treatment-refractory stiff-person syndrome. Proc Natl Acad Sci U S A. 2024 Jun 25;121(26):e2403227121. Epub 2024 Jun 17. PMID: 38885382, DOI: 10.1073/pnas.2403227121
Smith KM, Budhram A, Geis C, McKeon A, Steriade C, Stredny CM, Titulaer MJ, Britton JW. Autoimmune-associated seizure disorders. Epileptic Disord. 2024 Aug;26(4):415-434. Epub 2024 May 31. PMID: 38818801, DOI: 10.1002/epd2.20231
Grünewald B, Wickel J, Hahn N, Rahmati V, Rupp H, Chung HY, Haselmann H, Strauss AS, Schmidl L, Hempel N, Grünewald L, Urbach A, Bauer M, Toyka KV, Blaess M, Claus RA, König R, Geis C. Targeted rescue of synaptic plasticity improves cognitive decline in sepsis-associated encephalopathy. Mol Ther. 2024 Jul 3;32(7):2113-2129. Epub 2024 May 23. PMID: 38788710, DOI: 10.1016/j.ymthe.2024.05.001
Wickel J, Chung HY, Ceanga M, von Stackelberg N, Hahn N, Candemir Ö, Baade-Büttner C, Mein N, Tomasini P, Woldeyesus DM, Andreas N, Baumgarten P, Koch P, Groth M, Wang ZQ, Geis C. Repopulated microglia after pharmacological depletion decrease dendritic spine density in adult mouse brain. Glia. 2024 Aug;72(8):1484-1500. Epub 2024 May 23. PMID: 38780213, DOI: 10.1002/glia.24541
Bullmann T, Kaas T, Ritzau-Jost A, Wöhner A, Kirmann T, Rizalar FS, Holzer M, Nerlich J, Puchkov D, Geis C, Eilers J, Kittel RJ, Arendt T, Haucke V, Hallermann S. Human iPSC-Derived Neurons with Reliable Synapses and Large Presynaptic Action Potentials. J Neurosci. 2024 Jun 12;44(24):e0971232024. PMID: 38724283, DOI: 10.1523/JNEUROSCI.0971-23.2024
Cuhadar U, Calzado-Reyes L, Pascual-Caro C, Aberra AS, Ritzau-Jost A, Aggarwal A, Ibata K, Podgorski K, Yuzaki M, Geis C, Hallerman S, Hoppa MB, de Juan-Sanz J. Activity-driven synaptic translocation of LGI1 controls excitatory neurotransmission. Cell Rep. 2024 May 28;43(5):114186. Epub 2024 May 2. PMID: 38700985, DOI: 10.1016/j.celrep.2024.114186
Upadhya M, Kirmann T, Wilson MA, Simon CM, Dhangar D, Geis C, Williams R, Woodhall G, Hallermann S, Irani SR, Wright SK. Peripherally-derived LGI1-reactive monoclonal antibodies cause epileptic seizures in vivo. Brain. 2024 Aug 1;147(8):2636-2642. PMID: 38662480, DOI: 10.1093/brain/awae129
Weiler S, Rahmati V, Isstas M, Wutke J, Stark AW, Franke C, Graf J, Geis C, Witte OW, Hübener M, Bolz J, Margrie TW, Holthoff K, Teichert M. A primary sensory cortical interareal feedforward inhibitory circuit for tacto-visual integration. Nat Commun. 2024 Apr 10;15(1):3081.. PMID: 38594279, DOI: 10.1038/s41467-024-47459-2
Kümpfel T, Giglhuber K, Aktas O, Ayzenberg I, Bellmann-Strobl J, Häußler V, Havla J, Hellwig K, Hümmert MW, Jarius S, Kleiter I, Klotz L, Krumbholz M, Paul F, Ringelstein M, Ruprecht K, Senel M, Stellmann JP, Bergh FT, Trebst C, Tumani H, Warnke C, Wildemann B, Berthele A; Neuromyelitis Optica Study Group (NEMOS). Correction to: Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part II: Attack therapy and long-term management. J Neurol. 2024 Jun;271(6):3702-3707. PMID: 38578500, DOI: 10.1007/s00415-024-12288-2
Kattlun F, Hertel E, Geis C, Scherag A, Wickel J, Finke K. Persistent neurocognitive deficits in cognitively impaired survivors of sepsis are explained by reductions in working memory capacity. Front Psychol. 2024 Feb 21;15:1321145. eCollection 2024. PMID: 38449763, DOI: 10.3389/fpsyg.2024.1321145
Greguletz P, Plötz M, Baade-Büttner C, Bien CG, Eisenhut K, Geis C, Handreka R, Klausewitz J, Körtvelyessy P, Kovac S, Kraft A, Lewerenz J, Malter M, Nagel M, von Podewils F, Prüß H, Rada A, Rau J, Rauer S, Rößling R, Seifert-Held T, Siebenbrodt K, Sühs KW, Tauber SC, Thaler F, Wagner J, Wickel J, Leypoldt F, Rittner HL, Sommer C, Villmann C, Doppler K; GENERATE study group. Different pain phenotypes are associated with anti-Caspr2 autoantibodies. J Neurol. 2024 May;271(5):2736-2744. Epub 2024 Feb 22. PMID: 38386048, DOI: 10.1007/s00415-024-12224-4
Hunter D, Petit-Pedrol M, Fernandes D, Bénac N, Rodrigues C, Kreye J, Ceanga M, Prüss H, Geis C, Groc L. Converging synaptic and network dysfunctions in distinct autoimmune encephalitis. EMBO Rep. 2024 Mar;25(3):1623-1649. Epub 2024 Jan 22. PMID: 38253690, DOI: 10.1038/s44319-024-00056-2
Kuchling J, Jurek B, Kents M, Kreye J, Geis C, Wickel J, Mueller S, Koch SP, Boehm-Sturm P, Prüss H, Finke C. Impaired functional connectivity of the hippocampus in translational murine models of NMDA-receptor antibody associated neuropsychiatric pathology. Mol Psychiatry. 2024 Jan;29(1):85-96. Epub 2023 Oct 24. PMID: 37875549, DOI: 10.1038/s41380-023-02303-9
Kümpfel T, Giglhuber K, Aktas O, Ayzenberg I, Bellmann-Strobl J, Häußler V, Havla J, Hellwig K, Hümmert MW, Jarius S, Kleiter I, Klotz L, Krumbholz M, Paul F, Ringelstein M, Ruprecht K, Senel M, Stellmann JP, Bergh FT, Trebst C, Tumani H, Warnke C, Wildemann B, Berthele A; Neuromyelitis Optica Study Group (NEMOS). Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part II: Attack therapy and long-term management. J Neurol. 2024 Jan;271(1):141-176. Epub 2023 Sep 7. PMID: 37676297, DOI: 10.1007/s00415-023-11910-z
Seltene periphere Nervenerkrankungen
Carraro U, Alberty MS, Anton S, Barbieri E, Bersch I, Blaauw B, Bosco G, Forni R, Ganassi M, Gargiulo P, Gentil P, Gorgey AS, Leeuwenburgh C, Maccarone MC, Martini A, Masiero S, Mayr W, Messina G, Morra A, Narici M, Ohlendieck K, Perrin P, Pond A, Quadrelli M, Rosati R, Sestili P, Smeriglio P, Sweeney HL, Tavian D, Volk GF. Mobility Medicine: A call to unify hyper-fragmented specialties by abstracts sent to 2025Pdm3, and typescripts to Ejtm3, and Diagnostics. Eur J Transl Myol. 2024 Dec 12;34(4). PMID: 39665691, DOI: 10.4081/ejtm.2024.13432
Krauß J, Meincke G, Geitner M, Kuttenreich AM, Beckmann J, Arnold D, Ballmaier J, Lehmann T, Mayr W, Guntinas-Lichius O, Volk GF. Efficacy of electrical stimulation of the zygomaticus muscle in complete facial paralysis: evidence from facial grading and automated image analysis. Eur J Transl Myol. 2024 Nov 15;34(4):13161. 13161 . PMID: 39555983, DOI: 10.4081/ejtm.2024
Meincke G, Krauß J, Geitner M, Kuttenreich AM, Arnold D, Ballmaier J, Lehmann T, Mayr W, Guntinas-Lichius O, Volk GF. Deceleration of denervated facial muscle atrophy through functional electrical stimulation: a sonographic quantification in patients with facial nerve paralysis. Eur J Transl Myol. 2024 Nov 13;34(4):13162. PMID: 39535548, DOI: 10.4081/ejtm.2024.13162
Alberts E, Ballmaier J, Boeger D, Buentzel J, Hoffmann K, Podzimek J, Kaftan H, Mueller A, Tresselt S, Volk GF, Guntinas-Lichius O. Surgery for facial palsy in the hands of otorhinolaryngologists: a population-based study. Eur Arch Otorhinolaryngol. 2024 Oct 23. Online ahead of print. PMID: 39443389, DOI: 10.1007/s00405-024-09044-7
Steiner K, Arnz M, Volk GF, Guntinas-Lichius O. Electro-Stimulation System with Artificial-Intelligence-Based Auricular-Triggered Algorithm to Support Facial Movements in Peripheral Facial Palsy: A Simulation Pilot Study. Diagnostics (Basel). 2024 Sep 28;14(19):2158. PMID: 39410562, DOI: 10.3390/diagnostics14192158
Schuhmann L, Büchner T, Heinrich M, Volk GF, Denzler J, Guntinas-Lichius O. Automated analysis of spontaneous eye blinking in patients with acute facial palsy or facial synkinesis. Sci Rep. 2024 Jul 31;14(1):17726. PMID: 39085410, DOI: 10.1038/s41598-024-68707-x
Moritz WE, Volk GF, Kreysa H, Guntinas-Lichius O. Translation and validation of the German version of the FACE-Q paralysis module in adult patients with unilateral peripheral facial palsy. Sci Rep. 2024 Mar 31;14(1):7606. PMID: 38556525, DOI: 10.1038/s41598-024-58159-8
Ballmaier J, Hölzer S, Geitner M, Kuttenreich AM, Erfurth C, Guntinas-Lichius O, Volk GF. Does electrical stimulation still have a place in the treatment armamentarium for Bell's palsy? Expert Rev Neurother. 2024 Jan-Jun;24(1):1-3. Epub 2024 Jan 8. PMID: 38105767, DOI: 10.1080/14737175.2023.2295426
Baumbach P, Storch P, Weiss T, Meissner W, Rottstädt F. [Interdisciplinary multimodal pain therapy: does the dose make a difference? : A comparison from routine clinical care]. Schmerz. 2024 Oct 9. Online ahead of print. Article in German. PMID: 39382691, DOI: 10.1007/s00482-024-00838-6
Heintz S, Storch P, Burow P, Maier P, Obermann M, Stoessel G, Kraya T, Naegel S. Erenumab escalation in migraine - double dose without additional benefit - a retrospective experience. Acta Neurol Belg. 2024 Oct;124(5):1663-1670. Epub 2024 Jul 27. PMID: 39066884, DOI: 10.1007/s13760-024-02603-z
Seltene Herz- und Lungenkrankheiten
Bekhite MM, Hübner S, Kretzschmar T, Backsch C, Weise A, Klein E, Bogoviku J, Westphal J, Christian Schulze P. Generation of human induced pluripotent stem cell lines UKJi001-A and UKJi006-A from patients with heterozygous mutation in the PKP2 gene. Stem Cell Res. 2024 Dec;81:103565. Epub 2024 Sep 21. PMID: 39332132, DOI: 10.1016/j.scr.2024.103565
Haertel F, Kaluza M, Bogoviku J, Westphal J, Fritzenwanger M, Pfeifer R, Kretzschmar D, Doenst T, Moebius-Winkler S, Schulze PC. The Jena Method: Perfusionist Independent, Standby Wet-Primed Extracorporeal Membrane Oxygenation (ECMO) Circuit for Immediate Catheterization Laboratory and/or Hybrid Operating Room Deployment. J Clin Med. 2024 Feb 24;13(5):1292. PMID: 38592110, DOI: 10.3390/jcm13051292
Kretzschmar T, Westphal J, Neugebauer S, Wu JMF, Zeller M, Bogoviku J, Bekhite MM, Bekfani T, Schlattmann P, Kiehntopf M, Franz M, Schulze PC. Metabolic Profiling Identifies 1-MetHis and 3-IPA as Potential Diagnostic Biomarkers for Patients With Acute and Chronic Heart Failure With Reduced Ejection Fraction. Circ Heart Fail. 2024 Jan;17(1):e010813. Epub 2024 Jan 5. PMID: 38179791, DOI: 10.1161/CIRCHEARTFAILURE.123.010813
Seltene Bindegewebskrankheiten
Pfeil A, Fleck M, Aringer M, Baraliakos X, Ernst D, Haase I, Hillebrecht C, Hoyer BF, Keyßer G, Kötter I, Krause A, Krusche M, Lorenz HM, Proft F, Schuch F, Vossen D, Voormann A, Wagner U, Wollenhaupt J, Specker C; Vorstand der Deutschen Gesellschaft für Rheumatologie und Klinische Immunologie; Kommission Fort- und Weiterbildung der Deutschen Gesellschaft für Rheumatologie und Klinische Immunologie. [Criteria for the authorization of training in medical specialist competence in internal medicine and rheumatology-A position paper of the German Society for Rheumatology and Clinical Immunology]. Z Rheumatol. 2024 Dec 12. Online ahead of print. Article in German. PMID: 39666002, DOI: 10.1007/s00393-024-01598-5
Hoffmann T, Teichgräber U, Lassen-Schmidt B, Renz D, Brüheim LB, Krämer M, Oelzner P, Böttcher J, Güttler F, Wolf G, Pfeil A. Artificial intelligence-based quantification of pulmonary HRCT (AIqpHRCT) for the evaluation of interstitial lung disease in patients with inflammatory rheumatic diseases. Rheumatol Int. 2024 Nov;44(11):2483-2496. Epub 2024 Sep 9. PMID: 39249141, DOI: 10.1007/s00296-024-05715-0
Oelzner P, Mueller PH, Hoffmann T, Schwabe A, Lehmann G, Eidner T, Wolf G, Pfeil A. Significant decrease of osteoporosis and osteoporotic fractures in rheumatoid arthritis within a period of 24 years: experiences of a single centre. RMD Open. 2024 Aug 20;10(3):e004564. PMID: 39164051, DOI: 10.1136/rmdopen-2024-004564
Hoffmann T, Teichgräber U, Förster M, Oelzner P, Kroegel C, Renz D, Weise T, Böttcher J, Schulze PC, Wolf G, Franz M, Pfeil A. Correlation of high-resolution computed tomography and immunological bronchoalveolar lavage in interstitial lung disease at the onset of inflammatory rheumatic diseases: implications for diagnosis and therapeutic strategies. Arthritis Res Ther. 2024 Jul 29;26(1):142. PMID: 39075618, DOI: 10.1186/s13075-024-03371-0
Renz DM, Böttcher J, Eckstein J, Huisinga C, Pfeil A, Lücke C, Gutberlet M. [Imaging of congenital heart defects with a focus on magnetic resonance imaging and computed tomography]. Radiologie (Heidelb). 2024 May;64(5):382-391. Article in German. Epub 2024 Apr 24. PMID: 38656344, DOI: 10.1007/s00117-024-01301-4
Klein F, Dinesh S, Fiedler D, Grün K, Schrepper A, Bogoviku J, Bäz L, Pfeil A, Kretzschmar D, Schulze PC, Möbius-Winkler S, Franz M. Identification of Serum Interleukin-22 as Novel Biomarker in Pulmonary Hypertension: A Translational Study. Int J Mol Sci. 2024 Apr 3;25(7):3985. PMID: 38612795, DOI: 10.3390/ijms25073985
Hasseli R, Hanses F, Stecher M, Specker C, Weise T, Borgmann S, Hasselberger M, Hertenstein B, Hower M, Hoyer BF, Koll C, Krause A, von Lilienfeld-Toal M, Lorenz HM, Merle U, Nunes de Miranda SM, Pletz MW, Regierer AC, Richter JG, Rieg S, Roemmele C, Ruethrich MM, Schmeiser T, Schulze-Koops H, Strangfeld A, Vehreschild MJGT, Voit F, Voll RE, Vehreschild JJ, Müller-Ladner U, Pfeil A. The protective effect of tumor necrosis factor-alpha inhibitors in COVID-19 in patients with inflammatory rheumatic diseases compared to the general population-A comparison of two German registries. Front Med (Lausanne). 2024 Mar 6;11:1332716 eCollection 2024. PMID: 38510457, DOI: 10.3389/fmed.2024.1332716
Heiss J, Grün K, Singerer I, Tempel L, Matasci M, Jung C, Pfeil A, Schulze PC, Neri D, Franz M. Expression of Inflammatory Genes in Murine Lungs in a Model of Experimental Pulmonary Hypertension: Effects of an Antibody-Based Targeted Delivery of Interleukin-9. Adv Respir Med. 2024 Jan 3;92(1):27-35. PMID: 38247549, DOI: 10.3390/arm92010005
Pfeil A, Hoffmann T, Freesmeyer M, Oelzner P, Wolf G. [Necrosis of the tongue as a clinical manifestation of giant cell arteritis]. Inn Med (Heidelb). 2024 May;65(5):508-511. Epub 2023 Oct 20. Article in German. PMID: 37861722, DOI: 10.1007/s00108-023-01607-w
Hoffmann T, Teichgräber U, Lassen-Schmidt B, Kroegel C, Krämer M, Förster M, Renz D, Oelzner P, Böttcher J, Franz M, Wolf G, Güttler F, Pfeil A. [Is JAK inhibition an option in the treatment of interstitial lung disease in rheumatoid arthritis?]. Z Rheumatol. 2024 Aug;83(6):495-499.. Epub 2023 Oct 17. Article in German. PMID: 37847297, DOI: 10.1007/s00393-023-01434-2
Seltene angeborene Fehlbildungen
Hadamek Y, Krueger PC, Mentzel HJ, Waginger M. Defining clavicle growth in infancy using chest radiographs. Front Pediatr. 2024 Oct 28;12:1433472 eCollection 2024. PMID: 39534249, DOI: 10.3389/fped.2024.1433472
Mentzel HJ. [(Uro)genital developmental disorders]. Radiologie (Heidelb). 2024 May;64(5):373-381. Epub 2024 Apr 4. Article in German, PMID: 38575809, DOI: 10.1007/s00117-024-01288-y
Damasio MB, Donati F, Bruno C, Darge K, Mentzel HJ, Ključevšek D, Napolitano M, Ozcan HN, Riccabona M, Smets AM, Sofia C, Stafrace S, Petit P, Ording Müller LS. Update on imaging recommendations in paediatric uroradiology: the European Society of Paediatric Radiology workgroup session on voiding cystourethrography. Pediatr Radiol. 2024 Apr;54(4):606-619. Epub 2024 Mar 11. PMID: 38467874, DOI: 10.1007/s00247-024-05883-y
Schwarz C, Bend J, Hebestreit H, Hogardt M, Hügel C, Illing S, Mainz JG, Rietschel E, Schmidt S, Schulte-Hubbert B, Sitter H, Wielpütz MO, Hammermann J, Baumann I, Brunsmann F, Dieninghoff D, Eber E, Ellemunter H, Eschenhagen P, Evers C, Gruber S, Koitschev A, Ley-Zaporozhan J, Düesberg U, Mentzel HJ, Nüßlein T, Ringshausen FC, Sedlacek L, Smaczny C, Sommerburg O, Sutharsan S, Vonberg RP, Weber AK, Zerlik J. [CF Lung Disease - a German S3 Guideline: Pseudomonas aeruginosa]. Pneumologie. 2024 Jun;78(6):e2. Epub 2024 Feb 29. Article in German. PMID: 38423036, DOI: 10.1055/a-2278-6685
Schwarz C, Bend J, Hebestreit H, Hogardt M, Hügel C, Illing S, Mainz JG, Rietschel E, Schmidt S, Schulte-Hubbert B, Sitter H, Wielpütz MO, Hammermann J, Baumann I, Brunsmann F, Dieninghoff D, Eber E, Ellemunter H, Eschenhagen P, Evers C, Gruber S, Koitschev A, Ley-Zaporozhan J, Düesberg U, Mentzel HJ, Nüßlein T, Ringshausen FC, Sedlacek L, Smaczny C, Sommerburg O, Sutharsan S, Vonberg RP, Weber AK, Zerlik J. [CF Lung Disease - a German S3 Guideline: Pseudomonas aeruginosa]. Pneumologie. 2024 Jun;78(6):367-399. Epub 2024 Feb 13. Article in German. PMID: 38350639, DOI: 10.1055/a-2182-1907
Franke D, Renz DM, Mentzel HJ. [Imaging after kidney transplantation in childhood and adolescence]. Radiologie (Heidelb). 2024 Jan;64(1):45-53. Epub 2024 Jan 5. Article in German. PMID: 38180539, DOI: 10.1007/s00117-023-01249-x
Weidemann J, Waginger M, Mentzel HJ. [Congenital anomalies of the kidneys and urinary tract (CAKUT) : Embryology in radiology and fetal magnetic resonance imaging]. Radiologie (Heidelb). 2024 Jan;64(1):3-10. Epub 2023 Dec 14. Article in German. PMID: 38095684, DOI: 10.1007/s00117-023-01243-3
Van Rossum T, Haiß A, Knoll RL, Marißen J, Podlesny D, Pagel J, Bleskina M, Vens M, Fortmann I, Siller B, Ricklefs I, Klopp J, Hilbert K, Meyer C, Thielemann R, Goedicke-Fritz S, Kuntz M, Wieg C, Teig N, Körner T, Kribs A, Hudalla H, Knuf M, Stein A, Gille C, Bagci S, Dohle F, Proquitté H, Olbertz DM, Schmidt E, Koch L, Pirr S, Rupp J, Spiegler J, Kopp MV, Göpel W, Herting E, Forslund SK, Viemann D, Zemlin M, Bork P, Gehring S, König IR, Henneke P, Härtel C. Bifidobacterium and Lactobacillus Probiotics and Gut Dysbiosis in Preterm Infants: The PRIMAL Randomized Clinical Trial. JAMA Pediatr. 2024 Oct 1;178(10):985-995. PMID: 39102225, DOI: 10.1001/jamapediatrics.2024.2626
Glaser K, Härtel C, Klingenberg C, Herting E, Fortmann MI, Speer CP, Stensvold HJ, Huncikova Z, Rønnestad AE, Nentwich MM, Stahl A, Dammann O, Göpel W; German Neonatal Network, the Norwegian Neonatal Network Investigators, and the Infection, Inflammation, Immunology and Immunisation section of the European Society for Paediatric Research. Neonatal Sepsis Episodes and Retinopathy of Prematurity in Very Preterm Infants. JAMA Netw Open. 2024 Jul 1;7(7):e2423933. PMID: 39052290, DOI: 10.1001/jamanetworkopen.2024.23933
Köber F, Heimann Y, Lehmann T, Schleußner E, Proquitté H, Groten T. Gestational age at birth, birth weight, and gestational age when intrauterine brain sparing occurs determines the neonatal outcome in growth-restricted infants born before 32 weeks of gestation: a retrospective cohort analysis. Front Pediatr. 2024 Jul 4;12:1377982..1377982. eCollection 2024. PMID: 39026938, DOI: 10.3389/fped.2024
Hofbauer A, Schneider H, Kehl S, Reutter H, Pecks U, Andresen K, Morhart P; Collaborating authors. [SARS-CoV-2 Infection in Pregnancy and Incidence of Congenital Malformations - is there a Correlation? Analysis of 8032 Pregnancies from the CRONOS Registry]. Z Geburtshilfe Neonatol. 2024 Feb;228(1):65-73. Epub 2024 Feb 8. Article in German. PMID: 38330961, DOI: 10.1055/a-2213-1506
Josten H, Heimann Y, Lehmann T, Schleußner E, Groten T, Weschenfelder F. The importance of the cerebro-placental ratio at term for predicting adverse perinatal outcomes in appropriate for gestational age fetuses. J Perinat Med. 2024 Dec 9. Online ahead of print. PMID: 39639466, DOI: 10.1515/jpm-2024-0427
Hertling S, Schleußner E, Loos FM, Eckhardt N, Kaiser M, Graul I. Sex differences in inflammatory parameters after shoulder arthroplasty and blood loss. Front Surg. 2024 Oct 24;11:1264443 . eCollection 2024. PMID: 39512731, DOI: 10.3389/fsurg.2024.1264443
Lößner C, Multhaup A, Bäz L, Lehmann T, Heimann Y, Schleußner E, Franz M, Groten T. Cardiovascular health of women 10 to 20 years after placenta-related pregnancy diseases considering the possible effect of pentaerythrityl tetranitrate treatment during pregnancy on long-term maternal cardiovascular health (PAVA study). PLoS One. 2024 Oct 15;19(10):e0309177. eCollection 2024. PMID: 39405308, DOI: 10.1371/journal.pone.0309177
Dargel S, Westphal J, Kloos C, Schleußner E, Weschenfelder F, Groten T. Stillbirth in women with Type 1 Diabetes mellitus-still a current topic. Arch Gynecol Obstet. 2024 Oct;310(4):2015-2021. Epub 2024 Jul 3. PMID: 38958733, DOI: 10.1007/s00404-024-07609-9
Rakers F, Schleussner E, Cornelius A, Kluckow S, Muth I, Hoyer D, Rupprecht S, Schultze T, Schiecke K, Ligges C, Schwab M, Hoyer H. Association between prenatal glucocorticoid exposure and adolescent neurodevelopment: An observational follow-up study. Acta Obstet Gynecol Scand. 2024 Aug;103(8):1530-1540. Epub 2024 Jun 14. PMID: 38877646, DOI: 10.1111/aogs.14885
Groten T, Lehmann T, Städtler M, Komar M, Winkler JL, Condic M, Strizek B, Seeger S, Jäger Y, Pecks U, Eckmann-Scholz C, Kagan KO, Hoopmann M, von Kaisenberg CS, Hertel B, Tauscher A, Schrey-Petersen S, Friebe-Hoffmann U, Lato K, Hübener C, Delius M, Verlohren S, Sroka D, Schlembach D, de Vries L, Kraft K, Seliger G, Schleußner E; PETN study group. Pentaerythrityl tetranitrate improves the outcome of children born to mothers with compromised uterine perfusion-12-months follow-up and safety data of the double-blind randomized PETN trial. Am J Obstet Gynecol MFM. 2024 Apr;6(4):101332. Epub 2024 Mar 7. PMID: 38460823, DOI: 10.1016/j.ajogmf.2024.101332
Städtler M, Wissenbach D, Wissenbach DK, Franke L, Pastuschek J, Schleussner E, Allison B, Peters FT, Groten T. A liquid chromatographic-mass spectrometric procedure for analysis of pentaerythrityl tetranitrate metabolites - Development, validation and application to ovine serum and human plasma samples. J Chromatogr B Analyt Technol Biomed Life Sci. 2024 Feb 15;1234:124028. Epub 2024 Jan 24. PMID: 38330519, DOI: 10.1016/j.jchromb.2024.124028
Neuromuskuläres Zentrum
Meyer T, Schumann P, Grehl T, Weyen U, Petri S, Rödiger A, Steinbach R, Grosskreutz J, Bernsen S, Weydt P, Wolf J, Günther R, Vidovic M, Baum P, Metelmann M, Weishaupt JH, Streubel B, Kasper DC, Koc Y, Kettemann D, Norden J, Schmitt P, Walter B, Münch C, Spittel S, Maier A, Körtvélyessy P. SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program. Amyotroph Lateral Scler Frontotemporal Degener. 2025 Feb;26(1-2):162-171. Epub 2024 Sep 13. PMID: 39268612, DOI: 10.1080/21678421.2024.2401131
Spittel S, Meyer T, Weyen U, Grehl T, Weydt P, Steinbach R, Petri S, Baum P, Metelmann M, Sperfeld AD, Kettemann D, Norden J, Rödiger A, Ilse B, Grosskreutz J, Hildebrandt B, Walter B, Münch C, Maier A. User expectations and experiences of an assistive robotic arm in amyotrophic lateral sclerosis: a multicenter observational study. Neurol Res Pract. 2024 Aug 23;6(1):42. PMID: 39180054, DOI: 10.1186/s42466-024-00342-3
Linse K, Weber C, Reilich P, Schöberl F, Boentert M, Petri S, Rödiger A, Posa A, Otto M, Wolf J, Zeller D, Brunkhorst R, Koch J, Hermann A, Großkreutz J, Schröter C, Groß M, Lingor P, Machetanz G, Semmler L, Dorst J, Lulé D, Ludolph A, Meyer T, Maier A, Metelmann M, Regensburger M, Winkler J, Schrank B, Kohl Z, Hagenacker T, Brakemeier S, Weyen U, Weiler M, Lorenzl S, Bublitz S, Weydt P, Grehl T, Kotterba S, Lapp HS, Freigang M, Vidovic M, Aust E, Günther R. Patients' and caregivers' perception of multidimensional and palliative care in amyotrophic lateral sclerosis - protocol of a German multicentre study. Neurol Res Pract. 2024 Jul 4;6(1):34. PMID: 38961496, DOI: 10.1186/s42466-024-00328-1
Meyer T, Dreger M, Grehl T, Weyen U, Kettemann D, Weydt P, Günther R, Lingor P, Petri S, Koch JC, Großkreutz J, Rödiger A, Baum P, Hermann A, Prudlo J, Boentert M, Weishaupt JH, Löscher WN, Dorst J, Koc Y, Bernsen S, Cordts I, Vidovic M, Steinbach R, Metelmann M, Kleinveld VE, Norden J, Ludolph A, Walter B, Schumann P, Münch C, Körtvélyessy P, Maier A. Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study. Eur J Neurol. 2024 Sep;31(9):e16379. Epub 2024 Jun 10. PMID: 38859579, DOI: 10.1111/ene.16379
Günther R, Wurster CD, Brakemeier S, Osmanovic A, Schreiber-Katz O, Petri S, Uzelac Z, Hiebeler M, Thiele S, Walter MC, Weiler M, Kessler T, Freigang M, Lapp HS, Cordts I, Lingor P, Deschauer M, Hahn A, Martakis K, Steinbach R, Ilse B, Rödiger A, Bellut J, Nentwich J, Zeller D, Muhandes MT, Baum T, Christoph Koch J, Schrank B, Fischer S, Hermann A, Kamm C, Naegel S, Mensch A, Weber M, Neuwirth C, Lehmann HC, Wunderlich G, Stadler C, Tomforde M, George A, Groß M, Pechmann A, Kirschner J, Türk M, Schimmel M, Bernert G, Martin P, Rauscher C, Meyer Zu Hörste G, Baum P, Löscher W, Flotats-Bastardas M, Köhler C, Probst-Schendzielorz K, Goldbach S, Schara-Schmidt U, Müller-Felber W, Lochmüller H, von Velsen O; SMArtCARE Study Group; Kleinschnitz C, Ludolph AC, Hagenacker T. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Eur. 2024 Feb 6;39:100862. eCollection 2024 Apr. PMID: 38361750, DOI: 10.1016/j.lanepe.2024.100862
Parnianpour P, Steinbach R, Buchholz IJ, Grosskreutz J, Kalra S. T1-weighted MRI texture analysis in amyotrophic lateral sclerosis patients stratified by the D50 progression model. Brain Commun. 2024 Nov 5;6(6):fcae389. PMID: 39544700; PMCID: PMC11562117, DOI: 10.1093/braincomms/fcae389
Steinfurth L,…, Steinbach R, Rödiger A,…,Maier A, Meyer T; Self-Assessment of amyotrophic lateral sclerosis functional rating scale on the patient’s smartphone proves to be non-inferior to clinic data capture; medRxiv 2024.12.03.24318381; DOI: 10.1101/2024.12.03.24318381
Naumann M,…, Rödiger A,…., Hermann A; RIG-I mediated neuron-specific IFN type 1 signaling in FUS-ALS induces neurodegeneration and offers new biomarker-driven individualized treatment options for (FUS-)ALS.; bioRxiv 2024.12.02.626340; DOI: 10.1101/2024.12.02.626340
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. JAMA Pediatr. 2024 Jun 1;178(6):540-547. PMID: 38587854, DOI: 10.1001/jamapediatrics.2024.0492
2023
A-Zentrum
Chen J, Salveridou E, Liebmann L, Sundaram SM, Doycheva D, Markova B, Hübner CA, Boelen A, Visser WE, Heuer H, Mayerl S. Triac treatment prevents neurodevelopmental and locomotor impairments in thyroid hormone transporter Mct8/Oatp1c1 deficient mice. Int J Mol Sci. 2023; 24:3452. PMID: 36834863. PMCID: PMC9966820. doi.org/10.3390/ijms24043452
Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, González A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikić I, Hübner CA. Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy. Nature. 2023; 618:402-410. PMID: 37225994. PMCID: PMC10247384. doi.org/10.1038/s41586-023-06090-9
Franzka P, Schüler SC, Kentache T, Storm R, Bock A, Katona I, Weis J, Buder K, Kaether C, Hübner CA. Impact of hypermannosylation on the structure and functionality of the ER and the Golgi complex. Biomedicines. 2023; 11:146. PMID: 36672654. PMCID: PMC9856158. doi.org/10.3390/biomedicines11010146
González A, Covarrubias-Pinto A, Bhaskara RM, Glogger M, Kuncha SK, Xavier A, Seemann E, Misra M, Hoffmann ME, Bräuning B, Balakrishnan A, Qualmann B, Dötsch V, Schulman BA, Kessels MM, Hübner CA, Heilemann M, Hummer G, Dikić I. Ubiquitination regulates ER- phagy and remodelling of endoplasmic reticulum. Nature. 2023; 618:394-401. PMID: 37225996. PMCID: PMC10247366. doi.org/10.1038/s41586-023-06089-2
Rathod YD, Abdelgawad R, Hübner CA, Di Fulvio M. Slc12a2 loss in insulin-secreting β-cells links development of overweight and metabolic dysregulation to impaired satiation control of feeding. Am J Physiol Endocrinol Metab. 2023; 325:E581-E594. PMID: 37819196. doi.org/10.1152/ajpendo.00197.2023
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain. 2023; 146:4547-4561. PMID: 37459438. PMICD: PMC10629776. doi.org/10.1093/brain/awad235
Vitzthum H, Koch M, Eckermann L, Svendsen SL, Berg P, Hübner CA, Wagner CA, Leipziger J, Meyer-Schwesinger C, Ehmke H. The AE4 transporter mediates kidney acid-base sensing. Nat Commun. 2023; 14:3051. PMID: 37236964. PMCID: PMC10220024. doi.org/10.1038/s41467-023-38562-x
Lischka A, Eggermann K, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Sánchez JR, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques Junior W, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothir S, Doriqui MJR, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-
Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Cakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain. 2023 Dec 1;146(12):4880-4890. PMID: 37769650. PMCID: PMC10689924. doi.org/10.1093/brain/awad328
Tessier M, Garcia MS, Goubert E, Blasco E, Consumi A, Dehapiot B, Tian L, Molinari F, Laurin J, Guillemot F, Hübner CA , Pellegrino C, Rivera C. Bumetanide induces post-traumatic microglia-interneuron contact to promote neurogenesis and recovery. Brain. 2023 Oct 3;146(10):4247-4261. PMID: 37082944. PMCID: PMC10545516. doi.org/10.1093/brain/awad132
Kurki SN, Uvarov P, Pospelov AS, Trontti K, Hübner AK, Srinivasan R, Watanabe M, Hovatta I, Hübner CA, Kaila K, Virtanen MA. Expression patterns of NKCC1 in neurons and non-neuronal cells during cortico-hippocampal development. Cereb Cortex. 2023 May 9;33(10):5906-5923. PMID: 36573432. PMCID: PMC10183754. doi.org/10.1093/cercor/bhac470
Seltene Infektionen
Soriano A, Montravers P, Bassetti M, Klyasova G, Daikos G, Irani P, Stone G, Chambers R, Peeters P, Shah M, Hulin C, Albuquerque N, Basin E, Gaborit B, Kourbeti I, Menichetti F, Perez-Rodriguez MZ, Pletz MW, Sanchez M, Trompa I, Verma A, de Figueiredo MLN, Charbonneau C. The Use and Effectiveness of Ceftazidime-Avibactam in Real-World Clinical Practice: EZTEAM Study. Infect Dis Ther. 2023 Mar;12(3):891-917. Epub 2023 Feb 10. PMID: 36763243. PMCID: PMC9912999. doi.org/10.1007/s40121-023-00762-9
Hamed SM, Elkhatib WF, Brangsch H, Gesraha AS, Moustafa S, Khater DF, Pletz MW, Sprague LD, Neubauer H, Wareth G. Acinetobacter baumannii Global Clone-Specific Resistomes Explored in Clinical Isolates Recovered from Egypt. Antibiotics (Basel). 2023 Jul 4;12(7):1149. PMID: 37508245. PMCID: PMC10376554. doi.org/10.3390/antibiotics12071149
Schleenvoigt BT, Ankert J, Barten-Neiner G, Voit F, Suttorp N, Boesecke C, Hoffmann C, Stolz D, Pletz MW, Rohde G, Witzenrath M, Panning M, Essig A, Rupp J, Degen O, Stephan C, CAPNETZ Study Group. Pathogen spectrum of community acquired pneumonia in people living with HIV (PLWH) in the German CAPNETZ-Cohort. Infection. 2023 Jul 9. Online ahead of print. PMID: 37423969. doi.org/10.1007/s15010-023-02070-3
Banz M, Stallmach A, Gaßler N, Schulze PC, Fritzenwanger M, Cornely O, Kurzai O, Pletz MW. Fatal pulmonary hemorrhage, pneumothorax and skin necrosis caused by IRIS to an Aspergillus flavus infection in a young patient with metamizole associated agranulocytosis. Infection. 2023 Dec 22. Online ahead of print. PMID: 38133714. doi.org/10.1007/s15010-023-02149-x
Seltene hämatologische/hämostaseologische Erkrankungen
Pfrepper C, Klamroth R, Oldenburg J, Holstein K, Eichler H, Hart C, Moehnle P, Schilling K, Trautmann-Grill K, Alrifai M, Ay C, Miesbach W, Knoebl P, Tiede A. Emicizumab for the Treatment of Acquired Hemophilia A: Consensus Recommendations from the GTH-AHA Working Group. Hamostaseologie. 2023 Dec 4. Online ahead of print. PMID: 38049124. doi.org/10.1055/a-2197-9738
Seltene (neuro-)metabolische Erkrankungen
HusainRA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijr W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Rubio MKI. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain. 2023 Dec 23:awad434. Online ahead of print. PMID: 38141063. doi.org/10.1093/brain/awad434
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2023 Feb 13;146(2):668-
677. PMID: 35857854. doi.org/10.1093/brain/awac252
Seltene Enzephalopathien
Chung HY, Wickel J, Oswald M, Dargvainiene J, Rupp J, Rohde G, Witzenrath M, Leypoldt F, König R, Pletz MW, Geis C; CAPNETZ Study Group. Neurofilament light chain levels predict encephalopathy and outcome in community-acquired pneumonia. Ann Clin Transl Neurol. 2023 Feb;10(2):204-212. Epub 2022 Dec 8. PMID: 36479924 Free PMC article. doi.org/10.1002/acn3.51711
Mein N, von Stackelberg N, Wickel J, Geis C, Chung HY. Low-dose PLX5622 treatment prevents neuroinflammatory and neurocognitive sequelae after sepsis. J Neuroinflammation. 2023 Dec 1;20(1):289. PMID: 38041192, PMCID: PMC10691003. doi.org/10.1186/s12974-023-02975-8
Martin EM, Srowig A, Utech I, Schrenk S, Kattlun F, Radscheidt M, Brodoehl S, Bublak P, Schwab M, Geis C, Besteher B, Reuken PA, Stallmach A, Finke K. Persistent cognitive slowing in post-COVID patients: longitudinal study over 6 months. J Neurol. 2024 Jan;271(1):46-58. Epub 2023 Nov 7. PMID: 37936010, PMCID: PMC10769987. doi.org/10.1007/s00415-023-12069-3
Eisenhut K, Faber J, Engels D, Gerhards R, Lewerenz J, Doppler K, Sommer C, Markewitz R, Falk KK, Rössling R, Pruess H, Finke C, Wickel J, Geis C, Ratuszny D, Pfeffer LK, Bittner S, Piepgras J, Kraft A, Klausewitz J, Nuscher B, Kümpfel T, Thaler FS, German Network for Research on Autoimmune Encephalitis (GENERATE). Early Neuroaxonal Damage in Neurologic Disorders Associated With GAD65 Antibodies. Neurol Neuroimmunol Neuroinflamm. 2023 Nov 1;11(1):e200176. Print 2024 Jan. PMID: 37914416, PMCID: PMC10624332. doi.org/10.1212/NXI.0000000000200176
Kuchling J, Jurek B, Kents M, Kreye J, Geis C, Wickel J, Mueller S, Koch SP, Boehm-Sturm P, Prüss H, Finke C. Impaired functional connectivity of the hippocampus in translational murine models of NMDA-receptor antibody associated neuropsychiatric pathology. Mol Psychiatry. 2023 Oct 24.Online ahead of print. PMID: 37875549. doi.org/10.1038/s41380-023-02303-9
Ceanga M, Rahmati V, Haselmann H, Schmidl L, Hunter D, Brauer AK, Liebscher S, Kreye J, Prüss H, Groc L, Hallermann S, Dalmau J, Ori A, Heckmann M, Geis C. Human NMDAR autoantibodies disrupt excitatory-inhibitory balance, leading to hippocampal network hypersynchrony. Cell Rep. 2023 Oct 31;42(10):113166. Epub 2023 Sep 27. PMID: 37768823. doi.org/10.1016/j.celrep.2023.113166
Kümpfel T, Giglhuber K, Aktas O, Ayzenberg I, Bellmann-Strobl J, Häußler V, Havla J, Hellwig K, Hümmert MW, Jarius S, Kleiter I, Klotz L, Krumbholz M, Paul F, Ringelstein M, Ruprecht K, Senel M, Stellmann JP, Bergh FT, Trebst C, Tumani H, Warnke C, Wildemann B, Berthele A. Neuromyelitis Optica Study Group (NEMOS); Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part II: Attack therapy and long-term management. J Neurol. 2024 Jan;271(1):141-176. Epub 2023 Sep 7. PMID: 37676297 PMCID: PMC10770020. doi.org/10.1007/s00415-023-11910-z
Roeth AA, Jauch D, Buhr HJ, Klinger C, Sommer N, Wachter N, Hartmann D, Schnitzbauer A, Geis C, Boedecker C, Huber T. Future of University Medicine: How Important are Research and Teaching? - An Inventory. Zentralbl Chir. 2023 Oct;148(5):415-424. Epub 2023 Jun 20. PMID: 37339662. doi.org/10.1055/a-2068-4323
Hahn N, Bens M, Kempfer M, Reißig C, Schmidl L, Geis C. Protecting RNA quality for spatial transcriptomics while improving immunofluorescent staining quality. Front Neurosci. 2023 May 18:17:1198154. eCollection 2023. PMID: 37274189, PMCID: PMC10234422. doi.org/10.3389/fnins.2023.1198154
Bircak-Kuchtova B, Chung HY, Wickel J, Ehler J, Geis C. Neurofilament light chains to assess sepsis-associated encephalopathy: Are we on the track toward clinical implementation? Crit Care. 2023 May 31;27(1):214. PMID: 37259091, PMCID: PMC10230136. doi.org/10.1186/s13054-023-04497-4
Chung HY, Wickel J, Hahn N, Mein N, Schwarzbrunn M, Koch P, Ceanga M, Haselmann H, Baade-Büttner C, von Stackelberg N, Hempel N, Schmidl L, Groth M, Andreas N, Götze J, Coldewey SM, Bauer M, Mawrin C, Dargvainiene J, LeypoldtF, Steinke S, Wang ZQ, Hust M, Geis C. Microglia mediate neurocognitive deficits by eliminating C1q-tagged synapses in sepsis-associated encephalopathy. Sci Adv. 2023 May 26;9(21):eabq7806. Epub 2023 May 26. PMID: 37235660, PMCID: PMC10219600. doi.org/10.1126/sciadv.abq7806
Huppke B, Reinert MC, Hummel-Abmeier H, Stark W, Gärtner J, Huppke P. Pretreatment Neurofilament Light Chain Serum Levels, Early Disease Severity, and Treatment Response in Pediatric Multiple Sclerosis. Neurology. 2023 Nov 7;101(19):e1873-e1883. Epub 2023 Sep 25. PMID: 37748882. doi.org/10.1212/WNL.0000000000207791
Wong KM, Wegener E, Baradaran-Heravi A, Huppke B, Gärtner J, Huppke P. Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome. Int J Mol Sci. 2023 Jul 19;24(14):11665. PMID: 37511424. doi.org/10.3390/ijms241411665
Seltene periphere Nervenerkrankungen
Volk GF, Kraus CC, Eisenhardt SU, Rozen S. Special Issue: Evidence-Based Diagnosis and Management of Facial Nerve Disorders. Diagnostics (Basel). 2023 Sep 26;13(19):3056. PMID: 37835799. PMCID: PMC10572159. doi.org/10.3390/diagnostics13193056
Arnold D, Thielker J, Klingner CM, Guntinas-Lichius O, Volk GF. Selective zygomaticus muscle activation by ball electrodes in synkinetically reinnervated patients after facial paralysis. Front Rehabil Sci. 2023 Oct 16:4:1205154. eCollection 2023. PMID: 37908489. PMCID: PMC10613664. doi.org/10.3389/fresc.2023.1205154
Hochreiter J, Hoche E, Janik L, Volk GF, Leistritz L, Anders C, Guntinas-Lichius O. Machine-Learning-Based Detecting of Eyelid Closure and Smiling Using Surface Electromyography of Auricular Muscles in Patients with Postparalytic Facial Synkinesis: A Feasibility Study. Diagnostics (Basel). 2023 Feb 2;13(3):554. PMID: 36766657. PMCID: PMC9914547. doi.org/10.3390/diagnostics13030554
Trentzsch V, Mueller N, Heinrich M, Kuttenreich AM, Guntinas-Lichius O, Volk GF, Anders C. Test-retest reliability of high- resolution surface electromyographic activities of facial muscles during facial expressions in healthy adults: A prospective observational study. Front Hum Neurosci. 2023 Mar 13:17:1126336. eCollection 2023. PMID: 36992792. PMCID: PMC10040741. doi.org/10.3389/fnhum.2023.1126336
Guntinas-Lichius O, Trentzsch V, Mueller N, Heinrich M, Kuttenreich AM, Dobel C, Volk GF, Graßmer R, Anders C. High-resolution surface electromyographic activities of facial muscles during the six basic emotional expressions in healthy adults: a prospective observational study. Sci Rep. 2023 Nov 6;13(1):19214. PMID: 37932337. PMCID: PMC10628297. doi.org/10.1038/s41598-023-45779-9
Storch P, Möller B. Nicht-medikamentöse Verfahren und multimodale Migränetherapie, Moderne Praxis der Migränetherapie – bewährte Strategien und Innovationen, Maihöfner, Christian, 1. Auflage – Bremen: UNI-MED, 2022, ISBN 978-3-8374-1644-2
Seltene Herz- und Lungenkrankheiten
Gräger S, Pfirschke R, Lorenz M, Vilser D, Krämer M, Mentzel HJ, Glutig K. Lung ultrasound in children and adolescents with long-term effects of COVID-19: Initial results. Front Pediatr. 2023 Mar 24:11:1112881. eCollection 2023. PMID: 37033176. PMCID: PMC10080098. doi.org/10.3389/fped.2023.1112881
Seltene Bindegewebskrankheiten
Pfeil A, Krusche M, Proft F, Vossen D, Braun J, Baraliakos X, Berliner MN, Keyßer G, Krause A, Lorenz HM, Manger B, Schuch F, Specker C, Wollenhaupt J, Voormann A, Fleck M. Rheumatology training positions in Germany. Z Rheumatol. 2023 Sep;82(7):539-551. Epub 2022 Oct 20. PMID: 36264331. PMCID: PMC10495514. doi.org/10.1007/s00393-022-01284-4
Pfeil A, Klemm P, Hueber AJ, Hoffmann T, Weise T, Oelzner P, Knop S, Müller-Ladner U, Lange U, Wolf G, Schett G, Simon D, Kleyer A. Enhancing student understanding of rheumatic disease pathologies through augmented reality: findings from a multicentre trial. Rheumatology (Oxford) 2023 Sep 22:kead508. PMID: 37740288. doi.org/10.1093/rheumatology/kead508
Proft F, Vossen D, Baraliakos X, Berliner MN, Fleck M, Keyßer G, Krause A, Lorenz HM, Manger B, Schuch F, Specker C, Wollenhaupt J, Voormann A, Raspe M, Krusche M, Pfeil A (2023). Survey on the working, training, and research conditions of resident physicians in internistic and rheumatological continuing education-BEWUSST. Z Rheumatol. 2023 Aug 11.Online ahead of print. PMID: 37566120. doi.org/10.1007/s00393-023-01395-6
Hoffmann T, Oelzner P, Teichgräber U, Franz M, Gaßler N, Kroegel C, Wolf G, Pfeil A. Diagnosing lung involvement in inflammatory rheumatic diseases-Where do we currently stand? Front Med (Lausanne). 2023 Jan 11:9:1101448. eCollection 2022. PMID: 36714096. PMCID: PMC9874106. doi.org/10.3389/fmed.2022.1101448
Keyßer G, Michalsen A, Reuß-Borst M, rohne I, Gläß M, Pfeil A, Schultz O, Seifert O, Sander O. Recommendations of the committee on complementary medicine and nutrition in ayurvedic medicine, homeopathy, nutrition and Mediterranean diet. Z Rheumatol. 2023 Aug;82(6):517-531. Epub 2023 May 22. PMID: 37212842. PMCID: PMC10382356. doi.org/10.1007/s00393-023-01356-z
Machado PM, Schäfer M, Mahil SK, Liew J, Gossec L, Dand N, Pfeil A, Strangfeld A, Regierer AC, Fautrel B, Alonso CG, Saad CGS, Griffiths CEM, Lomater C, Miceli-Richard C, Wendling D, Rodriguez DA, Wiek D, Mateus EF, Sirotich E, Soriano ER, Ribeiro FM, Omura F, Martins FR, Santos H, Dau J, Barker JN, Hausmann J, Hyrich KL, Gensler L, Silva L, Jacobsohn L, Carmona L, Pinheiro MM, de Los Ángeles Severina MDZM, Yates M, Dubreuil M, Gore-Massy M, Romeo N, Haroon N, Sufka P, Grainger R, Hasseli R, Lawson-Tovey S, Bhana S, Pham T, Olofsson T, Bautista-Molano W, Wallace ZS, Yiu ZZN, Yazdany J, Robinson PC, Smith CH. Characteristics associated with poor COVID-19 outcomes in people with psoriasis, psoriatic arthritis and axial spondyloarthritis: data from the COVID-19 PsoProtect and Global Rheumatology Alliance physician-reported registries. Ann Rheum Dis. 2023 May;82(5):698-709. Epub 2023 Feb 14. PMID: 36787993. PMCID: PMC10176347. doi.org/10.1136/ard-2022-223499
Pfeil A, Hoffmann T, Freesmeyer M, Oelzner P, Wolf G. Necrosis of the tongue as a clinical manifestation of giant cell arteritis. Inn Med (Heidelb). 2023 Oct 20. Online ahead of print. PMID: 37861722. doi.org/10.1007/s00108-023-01607-w
Hoffmann T, Teichgräber U, Lassen-Schmidt B, Kroegel C, Krämer M, Förster M, Renz D, Oelzner P, Böttcher J, Franz M, Wolf G, Güttler F, Pfeil A. Is JAK inhibition an option in the treatment of interstitial lung disease in rheumatoid arthritis? Z Rheumatol. 2023 Oct 17. Online ahead of print. PMID: 37847297. doi.org/10.1007/s00393-023-01434-2
Hoffmann T, Gassler N, Teichgräber U, Sandhaus T, Oelzner P, Wolf G, Pfeil A. Clinical Images: Severe interstitial lung disease in Sjögren disease - What happens in the lungs? Inflammation or fibrosis? ACR Open Rheumatol. 2023 Feb;5(2):61-62. Epub 2022 Dec 15. PMID: 36519426. PMCID: PMC9926058. doi.org/10.1002/acr2.11516
Hasseli R, Richter JG, Hoyer BF, Lorenz HM, Pfeil A, Regierer AC, Schmeiser T, Strangfeld A, Voll RE, Krause A, Reckert S, Gräßler A, Saar P, Kapelle A, Backhaus M, Blank N, Henes J, Osiek S, Knothe A, Hoese G, Brandt-Jürgens J, Maltzahn A, Specker C, Müller-Ladner U, Schulze-Koops H. Characteristics and outcomes of SARS-CoV-2 breakthrough infections among double-vaccinated and triple-vaccinated patients with inflammatory rheumatic diseases. RMD Open. 2023 Apr;9(2):e002998. PMID: 37068915. PMCID: PMC10111193. doi.org/10.1136/rmdopen-2023-002998
V D Vo Chieu, V Vo Chieu, F Dressler, N Kornemann, A Pfeil, J Böttcher, F Streitparth, L D Berthold, M Dohna, D M Renz, S Hellms. Juvenile idiopathic arthritis of the knee: is contrast needed to score disease activity when using an augmented MRI protocol comprising PD-weighted sequences? Eur Radiol. 2023 May;33(5):3775-3784. Epub 2022 Dec 6. PMID: 36472701. PMCID: PMC10121492. doi.org/10.1007/s00330-022-09292-3
Seltene (angeborene) Fehlbildungen
Schulz AM, Lauten A, Lehmann T, Proquitté H, Eckoldt F, Weigel F, Mentzel HJ, Schneider U, John-Kroegel U. Amniotic fluid content in children with kidney and urinary tract anomalies determines pre- and postnatal development. Pediatr Nephrol 2023 Nov;38(11):3635-3643. Epub 2023 May 23. PMID: 37219638, PMCID: PMC10514154. doi.org/10.1007/s00467-023-05988-w
Olbertz D, Proquitté H, Patzer L, Erler T, Mikolajczak A, Sadowska-Krawczenko I, Wolff C, Radke M. Potential Benefit of Probiotic E. Coli Nissle in Term Neonates. Klin Padiatr 2023 Jul;235(4):213-220. Epub 2022 Nov 29. PMID: 36446590. PMCID: PMC10328724. doi.org/10.1055/a-1970-4340
Willgerodt N, Bührer C, Rossi R, Kühn T, Rüdiger M, Avenarius S, Böttger R, Olbertz DM, Proquitte H, Bittrich HJ, Haase R, Matthias Fröhlich, Sybille Höhne, Ulrich H Thome. Similar adverse outcome rates with high or low oxygen saturation targets in an area with low background mortality. Front Pediatr. 2023 Oct 24:11:1235877. eCollection 2023. PMID: 37941976. PMCID: PMC10628636. doi.org/10.3389/fped.2023.1235877
MJ Sturm, Henao-Restrepo JA, Becker S, Proquitté H, Beck JF, Sonnemann J. Synergistic anticancer activity of combined ATR and ribonucleotide reductase inhibition in Ewing's sarcoma cells. J Cancer Res Clin Oncol. 2023 Sep; 149(11):8605-8617. Epub 2023 Apr 25. PMID: 37097390. PMCID: PMC10374484. doi.org/10.1007/s00432-023-04804-0
Weidemann J, Waginger M, Mentzel JH. Congenital anomalies of the kidneys and urinary tract (CAKUT): Embryology in radiology and fetal magnetic resonance imaging. Radiologie (Heidelb) 2023 Dec 14. doi: 0.1007/s00117-023-01243-3. Online ahead of print. PMID: 38095684. doi.org/10.1007/s00117-023-01243-3
Moschos E, Mentzel JH. Ultrasound findings of the thyroid gland in children and adolescents. J Ultrasound. 2023 Mar;26(1):211-221. Epub 2022 Feb 9. PMID: 35138597. PMCID: PMC10063727. doi.org/10.1007/s40477-022-00660-9
Kirsch H, Krüger PC, John-Kroegel U, Waginger M, Mentzel JH. Functional MR urography in children - update 2023. Rofo. 2023 Dec;195 (12):1097-1105. Epub 2023 Jul 6. PMID: 37479217. doi.org/10.1055/a-2099-5907
Mentzel HJ, Wittschieber D. Radiological methods for age diagnostics: Clinical and forensic aspects. Radiologie (Heidelb). 2023 Feb;63(2):129-140. Epub 2023 Jan 19. PMID: 36656310. doi.org/10.1007/s00117-022-01110-7
Hahnemann ML, Kronsbein K, Karger B, Feld K, Banaschak S, Helmus J, Mentzel HJ, Pfeiffer H, Wittschieber D. Characterization of subdural collections in initial neuroimaging of abusive head trauma: Implications for forensic age diagnostics and clinical decision-making. Eur J Radiol. 2023 Feb;159:110652. Epub 2022 Dec 15. PMID: 36577185. doi.org/10.1016/j.ejrad.2022.110652
M Fiebich, J Ammon, M Borowski, H de Las Heras Gala, R Loose, H-J Mentzel, B Poppe. Use of patient radiation shielding in diagnostic and interventional radiology. Radiologie (Heidelb). 2023 Jun;63(6):461-470. Epub 2023 May 12. PMID: 37171543. doi.org/10.1007/s00117-023-01157-0
Chitavishvili N, Papageorgiou I, Malich A, Hahnemann ML, Mall G, Mentzel HJ, Wittschieber D. The distal femoral epiphysis in forensic age diagnostics: studies on the evaluation of the ossification process by means of T1- and PD/T2-weighted magnetic resonance imaging. Int J Legal Med. 2023 Mar; 137 (2):427-435. Epub 2022 Dec 24. PMID: 36565316. PMCID: PMC9902329. doi.org/10.1007/s00414-022-02927-6
Borges LGDA, Pastuschek J, Heimann Y, Dawczynski K., PEONS study group, Schleußner E, Pieper EH, Zöllkau J. Vaginal and neonatal microbiota in pregnant women with preterm premature rupture of membranes and consecutive early onset neonatal sepsis. BMC Med. 2023 Mar 13;21(1):92. PMID: 36907851. PMCID: PMC10009945. doi.org/10.1186/s12916-023-02805-x
Kyvernitakis I, Baschat AA, Malan M, Rath W, Berger R, Henrich W, Schleussner E, Yousefi B, Timmesfeld N, Maul H. Cervical pessary to prevent preterm birth and poor neonatal outcome: An integrity meta-analysis of randomized controlled trials focusing on adherence to the European Medical Device Regulation. Int J Gynaecol Obstet. 2023 Oct 13. Online ahead of print. PMID: 37830250. doi.org/10.1002/ijgo.15169
Rieß C, Heimann Y, Schleußner E, Groten T, Weschenfelder F. Disease Perception and Mental Health in Pregnancies with Gestational Diabetes. PsychDiab Pilot Study. J Clin Med. 2023 May 9;12(10):3358. PMID: 37240463. PMCID: PMC10219351. doi.org/10.3390/jcm12103358
Germeshausen K, Linzbach A, Zöllkau J, Heimann Y, Schleussner E, Groten T, Weschenfelder F. SPAM-sub partual analgesia with meptazinol: a prospective cohort study comparing intramuscular with intravenous administration. Arch Gynecol Obstet. 2023 May 9. Online ahead of print. PMID: 37160471. doi.org/10.1007/s00404-023-07056-y
David M, Achtenhagen A, Bamberg C, Bormann C, Felderhoff-Müser U, Groth S, Hänel K, König K, Korell M, Michl S, Redler S, Schleußner E, Seyler H, Wallwiener M, Wallwiener S. Abortion in the First Trimester. Guideline of the DGGG (S2k-Level, AWMF Registry No. 015-094, December 2022) - Part 2 with Recommendations for Surgical Termination of Pregnancy and Follow-up Care After Termination of Pregnancy. Geburtshilfe Frauenheilkd 2023 Oct 5;83(10):1221-1234. eCollection 2023 Oct. PMID: 37808257. PMCID: PMC10556860. doi.org/10.1055/a-2078-9346
Berger R, Abele H, Bahlmann F, Doubek K, Felderhoff-Müser U, Fluhr H, Garnier Y, Grylka-Baeschlin S, Hayward A, Helmer H, Herting E, Hoopmann M, Hösli I, Hoyme U, Kunze M, Kuon RJ, Kyvernitakis J, Lütje W, Mader S, Maul H, Mendling W, Mitschdörfer B, Nothacker M, Olbertz D, Ramsell A, Rath W, Roll C, Schlembach D, Schleußner E, Schütz F, Seifert-Klauss V,Stubert J, Surbek D. Correction: Prevention and Therapy of Preterm Birth. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/025, September 2022) - Part 2 with Recommendations on the Tertiary Prevention of Preterm Birth and on the Management of Preterm Premature Rupture of Membranes. Geburtshilfe Frauenheilkd. 2023 Jun 29;83(8):1043. eCollection 2023 Aug. PMID: 37588258. PMCID: MC10427200. doi.org/10.1055/a-2114-0564
Berger R, Abele H, Bahlmann F, Doubek K, Felderhoff-Müser U, Fluhr H, Garnier Y, Grylka-Baeschlin S, Hayward A, Helmer H, Herting E, Hoopmann M, Hösli I, Hoyme U, Kunze M, Kuon RJ, Kyvernitakis I, Lütje W, Mader S, Maul H, Mendling W, Mitschdörfer B, Nothacker M, Olbertz D, Ramsell A, Rath W, Roll C, Schlembach D, Schleußner E, Schütz F, Seifert-Klauss V, Stubert J, Surbek D. Correction: Prevention and Therapy of Preterm Birth. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/025, September 2022) - Part 1 with Recommendations on the Epidemiology, Etiology, Prediction, Primary and Secondary Prevention of Preterm Birth. Geburtshilfe Frauenheilkd. 2023 Jun 29;83(8):1043. eCollection 2023 Aug. PMID: 37588254. PMCID: PMC10427203. doi.org/10.1055/a-2114-0548
Toth B, Bohlmann M, Hancke K, Kuon JR, Nawroth F, von Otte S, Rogenhofer N, Rudnik-Schöneborn S, Schleußner E, Tempfer C, Vomstein K, Wischmann T, von Wolff M, Würfel W, Zschocke J. Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry No. 015/050, May 2022). Geburtshilfe Frauenheilkd. 2022 Nov 25;83(1):49-78. eCollection 2023 Jan. PMID: 37415921. PMCID: PMC10321417. doi.org/10.1055/a-1895-9940
Hertling S, Schleußner E, Graul I. Validation of uterine artery embolization before surgical laparoscopic myomenucleation compared to single surgical laparoscopic myomenucleation for the treatment of large fibroids and uterus myomatosus. Front Med (Lausanne). 2023 Apr 17:10:1145952. eCollection 2023. PMID: 37138749. PMCID: PMC10150949. doi.org/10.3389/fmed.2023.1145952
Groten T, Lehmann T, Städtler M, Komar M, Winkler JL, CondicM, Strizek B, Seeger S, Jäger Y, Pecks U, Eckmann-Scholz C, Kagan KO, Hoopmann M, von Kaisenberg KS, Brodowski L, TauscherA, Schrey-Petersen S, Friebe-Hoffmann U, Lato K, Hübener C, Delius M, Verlohren S, Sroka D, Schlembach D, de Vries L, Kraft K, Seliger G, Schleußner E, PETN Study Group. Effect of pentaerythritol tetranitrate (PETN) on the development of fetal growth restriction in pregnancies with impaired uteroplacental perfusion at midgestation-a randomized trial. Am J Obstet Gynecol. 2023 Jan;228(1):84.e1-84.e12. Epub 2022 Aug 2. PMID: 35931132. doi.org/10.1016/j.ajog.2022.07.028
Berger R, Abele H, Bahlmann F, Doubek K, Felderhoff-Müser U, Fluhr H, Garnier Y, Grylka-Baeschlin S, Hayward A, Helmer H, Herting E, Hoopmann M, Hösli I, Hoyme U, Kunze M, Kuon RH, Kyvernitakis I, Lütje W, Mader S, Maul H, Mendling W, Mitschdörfer B, Nothacker M, Olbertz D, Ramsell A, Rath W, Roll C, Schlembach D, Schleußner E, Schütz F, Seifert-Klauss V, Stubert J, Surbek D. Prevention and Therapy of Preterm Birth. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/025, September 2022) - Part 1 with Recommendations on the Epidemiology, Etiology, Prediction, Primary and Secondary Prevention of Preterm Birth. Geburtshilfe Frauenheilkd. 2023 May 4;83(5):547-568. eCollection 2023 May. PMID: 37152544. PMCID: PMC10159718. doi.org/10.1055/a-2044-0203
Berger R, Abele H, Bahlmann F, Doubek K, Felderhoff-Müser U, Fluhr H, Garnier Y, Grylka-Baeschlin S, Hayward A, Helmer H, Herting E, Hoopmann M, Hösli I, Hoyme U, Kunze M, Kuon RH, Kyvernitakis I, Lütje W, Mader S, Maul H, Mendling W, Mitschdörfer B, Nothacker M, Olbertz D, Ramsell A, Rath W, Roll C, Schlembach D, Schleußner E, Schütz F, Seifert-Klauss V, Stubert J, Surbek D. Prevention and Therapy of Preterm Birth. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/025, September 2022) - Part 2 with Recommendations on the Tertiary Prevention of Preterm Birth and on the Management of Preterm Premature Rupture of Membranes. Geburtshilfe Frauenheilkd. 2023 May 4;83(5):569-601. eCollection 2023 May. PMID: 37169014. PMCID: PMC10166648. doi.org/10.1055/a-2044-0345
Neuromuskuläres Zentrum
Meyer T, Spittel S, Grehl T, Weyen U, Steinbach R, Kettemann D, Petri S, Weydt P, Günther R, Baum P, Schlapakow E, Koch JC, Boentert M, Wolf J, Grosskreutz J, Rödiger A, Ilse B, Metelmann M, Norden J, Koc RY, Körtvélyessy P, Riitano A, Walter B, Hildebrandt B, Schaudinn F, Münch C, Maier A. Remote digital assessment of amyotrophic lateral sclerosis functional rating scale - a multicenter observational study. Amyotroph Lateral Scler Frontotemporal Degener. 2023 May;24(3-4):175-184. Epub 2022 Aug 1. PMID: 35912984. doi.org/10.1080/21678421.2022.2104649
Bril V, Drużdż A, Grosskreutz J, Habib AA, Mantegazza R, Sacconi S, Utsugisawa K, Vissing J, Vu T, Boehnlein M, Bozorg A, Gayfieva M, Greve B, Woltering F, Kaminski HJ; MG0003 study team. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study. Lancet Neurol. 2023 May;22(5):383-394. PMID: 37059507. doi.org/10.1016/S1474-4422(23)00077-7
Ruf WP, Boros M, Freischmidt A, Brenner D, Grozdanov V, de Meirelles J, Meyer T, Grehl T, Petri S, Grosskreutz J, Weyen U, Guenther R, Regensburger M, Hagenacker T, Koch JC, Emmer A, Roediger A, Steinbach R, Wolf J, Weishaupt JH, Lingor P, Deschauer M, Cordts I, Klopstock T, Reilich P, Schoeberl F, Schrank B, Zeller D, Hermann A, Knehr A, Günther K, Dorst J, Schuster J, Siebert R, Ludolph AC, Müller K. Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis. Brain Commun. 2023 May 9;5(3):fcad152. PMID: 37223130; PMCID: PMC10202555. doi.org/10.1093/braincomms/fcad152
Wiesenfarth M, Günther K, Müller K, Witzel S, Weiland U, Mayer K, Herrmann C, Brenner D, Schuster J, Freischmidt A, Lulé D, Meyer T, Regensburger M, Grehl T, Emmer A, Petri S, Großkreutz J, Rödiger A, Steinbach R, Klopstock T, Reilich P, Schöberl F, Wolf J, Hagenacker T, Weyen U, Zeller D, Ludolph AC, Dorst J. Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations. Brain Commun. 2023 Mar 21;5(2):fcad087. PMID: 37006326; PMCID: PMC10065188. doi.org/10.1093/braincomms/fcad087
Ebersbach T & Roediger A, Steinbach R, Appelfeller M, Tuemmler A, Stubendorff B, Axer H, Witte OW, Grosskreutz J. Motor unit number index (MUNIX) loss of 50% occurs in half the time of 50% functional loss according to the D50 disease progression model of ALS. Sci Rep. 2023 Mar 9;13(1):3981. PMID: 36894607; PMCID: PMC9998642. doi.org/10.1038/s41598-023-30871-x
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. J Neuromuscul Dis. 2023;10(1):29-40. PMID: 36565133; PMCID: PMC9881023. doi.org/10.3233/JND-221600
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study. J Neuromuscul Dis. 2023;10(1):29-40. PMID: 36565133; PMCID: PMC9881023. doi.org/10.3233/JND-221600
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2023 Feb 13;146(2):668-677. PMID: 35857854. doi.org/10.1093/brain/awac252
Gaur N, Steinbach R, Plaas M, Witte OW, Brill MS, Grosskreutz J. 2023. Chitinase dysregulation predicts disease aggressiveness in ALS: Insights from the D50 progression model. J Neurol Neurosurg Psychiatry, 94 (7):585-588. PMID: 37076292. doi.org/10.1136/jnnp-2022-330318
2022
A-Zentrum
Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction. Hum Mol Genet. 2022 Aug 23;31(16):2693-2710. PMID: 35313342; PMCID: PMC9402239. doi.org/10.1093/hmg/ddac063
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Genetic pain loss disorders. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. PMID: 5710757. doi.org/10.1038/s41572-022-00365-7
Ernst P, Schnöder TM, Huber N, Perner F, Jayavelu AK, Eifert T, Hsu CJ, Tubío-Santamaría N, Crodel CC, Ungelenk M, Hübner CA, Clement JH, Hochhaus A, Heidel FH. Histone demethylase KDM4C is a functional dependency in JAK2-mutated neoplasms. Leukemia. 2022 Jul;36(7):1843-1849. Epub 2022 Jun 2. PMID: 35654819; PMCID: PMC9252905. doi.org/10.1038/s41375-022-01611-3
Herrmann T, Gerth M, Dittmann R, Pensold D, Ungelenk M, Liebmann L, Hübner CA. Disruption of KCC2 in Parvalbumin-Positive Interneurons Is Associated With a Decreased Seizure Threshold and a Progressive Loss of Parvalbumin-Positive Interneurons. Front Mol Neurosci. 2022 Feb 3;14:807090. PMID: 5185464; PMCID: PMC8850922. doi.org/10.3389/fnmol.2021.807090
Tóth K, Lénárt N, Berki P, Fekete R, Szabadits E, Pósfai B, Cserép C, Alatshan A, Benkő S, Kiss D, Hübner CA, Gulyás A, Kaila K, Környei Z, Dénes Á. The NKCC1 ion transporter modulates microglial phenotype and inflammatory response to brain injury in a cell-autonomous manner. PLoS Biol. 2022 Jan 27;20(1):e3001526. PMID: 35085235; PMCID: PMC8856735. doi.org/ 10.1371/journal.pbio.3001526
Seltene Infektionen
Chung HY, Wickel J, Oswald M, Dargvainiene J, Rupp J, Rohde G, Witzenrath M, Leypoldt F, König R, Pletz MW, Geis C; CAPNETZ Study Group. Neurofilament light chain levels predict encephalopathy and outcome in community-acquired pneumonia. Ann Clin Transl Neurol. 2022 Dec 8. Epub ahead of print. PMID: 36479924. doi.org/10.1002/acn3.51711
Kydyshov K, Usenbaev N, Berdiev S, Dzhaparova A, Abidova A, Kebekbaeva N, Abdyraev M, Wareth G, Brangsch H, Melzer F, Neubauer H, Pletz MW. First record of the human infection of Brucella melitensis in Kyrgyzstan: evidence from whole-genome sequencing-based analysis. Infect Dis Poverty. 2022 Dec 1;11(1):120. PMID: 36482466; PMCID: PMC9730661. doi.org/10.1186/s40249-022-01044-1
Abdel-Glil MY, Thomas P, Brandt C, Melzer F, Subbaiyan A, Chaudhuri P, Harmsen D, Jolley KA, Janowicz A, Garofolo G, Neubauer H, Pletz MW. Core Genome Multilocus Sequence Typing Scheme for Improved Characterization and Epidemiological Surveillance of Pathogenic Brucella. J Clin Microbiol. 2022 Aug 17;60(8):e0031122. Epub 2022 Jul 19. PMID: 35852343; PMCID: PMC9387271. doi.org/10.1128/jcm.00311-22
Kydyshov K, Usenbaev N, Sharshenbekov A, Aitkuluev N, Abdyraev M, Chegirov S, Kazybaeva J, Brangsch H, Melzer F, Neubauer H, Pletz MW. Brucellosis in Humans and Animals in Kyrgyzstan. Microorganisms. 2022 Jun 25;10(7):1293. PMID: 35889012; PMCID: PMC9316274. doi.org/10.3390/microorganisms10071293
Thomas-Rüddel DO, Schlattmann P, Pletz M, Kurzai O, Bloos F. Risk Factors for Invasive Candida Infection in Critically Ill Patients: A Systematic Review and Meta-analysis. Chest. 2022 Feb;161(2):345-355. Epub 2021 Oct 18. PMID: 34673022; PMCID: PMC8941622. doi.org/10.1016/j.chest.2021.08.081
Diab M, Lehmann T, Bothe W, Akhyari P, Platzer S, Wendt D, Deppe AC, Strauch J, Hagel S, Günther A, Faerber G, Sponholz C, Franz M, Scherag A, Velichkov I, Silaschi M, Fassl J, Hofmann B, Lehmann S, Schramm R, Fritz G, Szabo G, Wahlers T, Matschke K, Lichtenberg A, Pletz MW, Gummert JF, Beyersdorf F, Hagl C, Borger MA, Bauer M, Brunkhorst FM, Doenst T; REMOVE Trial Investigators*. Cytokine Hemoadsorption During Cardiac Surgery Versus Standard Surgical Care for Infective Endocarditis (REMOVE): Results From a Multicenter Randomized Controlled Trial. Circulation. 2022 Mar 29;145(13):959-968. Epub 2022 Feb 25. PMID: 35213213. doi.org/10.1161/CIRCULATIONAHA.121.056940
Gheitasi R, Keramat F, Khosravi S, Hajilooi M, Pletz MW, Makarewicz O. Evaluation of Th2 and Th17 Immunity-Related Factors as Indicators of Brucellosis. Front Cell Infect Microbiol. 2022 Jan 7;11:786994. PMID: 35071039; PMCID: PMC8777051. doi.org/10.3389/fcimb.2021.786994
Zöllkau J, Ankert J, Pletz MW, Mishra S, Seliger G, Lobmaier SM, Prazeres Da Costa CU, Seidel V, Weizsäcker KV, Jablonka A, Dopfer C, Baier M, Horvatits T, Reiter-Owona I, Groten T, Schleenvoigt BT. Hepatitis E, Schistosomiasis and Echinococcosis-Prevalence in a Cohort of Pregnant Migrants in Germany and Their Influence on Fetal Growth Restriction. Pathogens. 2022 Jan 3;11(1):58. PMID: 35056006; PMCID: PMC8780214. doi.org/10.3390/pathogens11010058
Seltene hämatologische/hämostaseologische Erkrankungen
Herfurth K, Ruhe J, Kentouche K, Günther A, Brämer D, Eckardt N, Busch M, Wolf G. Therapierefraktäre thrombotisch-thrombozytopenische Purpura [Refractory thrombotic thrombocytopenic purpura]. Inn Med (Heidelb). 2022 Dec;63(12):1307-1311. German. Epub 2022 Oct 4. PMID: 36194294; PMCID: PMC9531628. doi.org/10.1007/s00108-022-01408-7
Ruhe J, Schnetzke U, Kentouche K, Prims F, Baier M, Herfurth K, Schlosser M, Busch M, Hochhaus A, Wolf G. Acquired thrombotic thrombocytopenic purpura after first vaccination dose of BNT162b2 mRNA COVID-19 vaccine. Ann Hematol. 2022 Mar;101(3):717-719. Epub 2021 Jul 26. PMID: 34309715; PMCID: PMC8311064. doi.org/10.1007/s00277-021-04584-y
Seltene (neuro-)metabolische Erkrankungen
Glutig K, Husain R, Renz D, John-Kroegel U, Mentzel HJ. Tuberöse-Sklerose-Komplex [Tuberous sclerosis complex]. Radiologie (Heidelb). 2022 Dec;62(12):1058-1066. German.Epub 2022 Aug 9. PMID: 35945379. doi.org/10.1007/s00117-022-01053-z
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. PMID: 36274155; PMCID: PMC9589836. doi.org/10.1186/s13023-022-02547-8
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. PMID: 36055214; PMCID: PMC9502063. doi.org/10.1016/j.ajhg.2022.07.007
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2022 Jul 20:awac252. Epub ahead of print. PMID: 35857854. doi.org/10.1093/brain/awac252
Ghait M, Husain RA, Duduskar SN, Haack TB, Rooney M, Göhrig B, Bauer M, Rubio I, Deshmukh SD. The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activation. Eur J Immunol. 2022 Jun;52(6):907-923. Epub 2022 Apr 7. PMID: 35334124. doi.org/10.1002/eji.202149612
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome. Genet Med. 2022 Jun;24(6):1283-1296. Epub 2022 Mar 26. PMID: 35346573. doi.org/10.1016/j.gim.2022.02.014
Warncke K, Eckert A, Kapellen T, Kummer S, Raile K, Dunstheimer D, Grulich-Henn J, Woelfle J, Wenzel S, Hofer SE, Dost A, Holl RW. Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria. Pediatr Diabetes. 2022 Nov;23(7):999-1008.Epub 2022 Jul 23. PMID: 35822653. doi.org/10.1111/pedi.13390
Seltene Enzephalopathien
Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P. Mutations in TAF8 cause a neurodegenerative disorder. Brain. 2022 Jun 27:awac154. Epub ahead of print. PMID: 35759269. doi.org/10.1093/brain/awac154
Krupp L, Banwell B, Chitnis T, Deiva K, Gaertner J, Ghezzi A, Huppke P, Waubant E, DeLasHeras V, Azmon A, Karan R. Effect of fingolimod on health-related quality of life in paediatric patients with multiple slerosis: results from the phase 3 PARADIGMS Study. BMJ Neurol Open. 2022 Feb 24;4(1):e000215. PMID: 35308898; PMCID: PMC8883212. doi.org/10.1136/bmjno-2021-000215
Chung HY, Wickel J, Oswald M, Dargvainiene J, Rupp J, Rohde G, Witzenrath M, Leypoldt F, König R, Pletz MW, Geis C; CAPNETZ Study Group. Neurofilament light chain levels predict encephalopathy and outcome in community-acquired pneumonia. Ann Clin Transl Neurol. 2022 Dec 8. Epub ahead of print. PMID: 36479924. doi.org/10.1002/acn3.51711
Tröscher AR, Mair KM, de Juan LV, Köck U, Steinmaurer A, Baier H, Becker A, Blümcke I, Finzel M, Geis C, Höftberger R, Mawrin C, von Oertzen TJ, Pitsch J, Surges R, Voges B, Weis S, Winklehner M, Woermann F, Bauer J, Bien CG. Temporal lobe epilepsy with GAD antibodies: neurons killed by T cells not by complement membrane attack complex. Brain. 2022 Oct 31:awac404. Epub ahead of print. PMID: 36314080. doi.org/10.1093/brain/awac404
Kaaden T, Madlener M, Angstwurm K, Bien CG, Bogarin Y, Doppler K, Finke A, Gerner ST, Reimann G, Häusler M, Handreka R, Hellwig K, Kaufmann M, Kellinghaus C, Koertvelyessy P, Kraft A, Lewerenz J, Menge T, Paliantonis A, von Podewils F, Prüss H, Rauer S, Ringelstein M, Rostásy K, Schirotzek I, Schwabe J, Sokolowski P, Suesse M, Sühs KW, Surges R, Tauber SC, Thaler F, Bergh FT, Urbanek C, Wandinger KP, Wildemann B, Mues S, Zettl U, Leypoldt F, Melzer N, Geis C, Malter M, Kunze A; and the Generate study group. Seizure Semiology in Antibody-Associated Autoimmune Encephalitis. Neurol Neuroimmunol Neuroinflamm. 2022 Oct 20;9(6):e200034. PMID: 36266054; PMCID: PMC9621609. doi.org/10.1212/NXI.0000000000200034
Jarius S, Bräuninger S, Chung HY, Geis C, Haas J, Komorowski L, Wildemann B, Roth C. Inositol 1,4,5-trisphosphate receptor type 1 autoantibody (ITPR1-IgG/anti-Sj)-associated autoimmune cerebellar ataxia, encephalitis and peripheral neuropathy: review of the literature. J Neuroinflammation. 2022 Jul 30;19(1):196. PMID: 35907972; PMCID: PMC9338677. doi.org/10.1186/s12974-022-02545-4
Gövert F, Abrante L, Becktepe J, Balint B, Ganos C, Hofstadt-van Oy U, Krogias C, Varley J, Irani SR, Paneva S, Titulaer MJ, de Vries JM, Boon AJW, Schreurs MWJ, Joubert B, Honnorat J, Vogrig A, Ariño H, Sabater L, Dalmau J, Scotton S, Jacob S, Melzer N, Bien CG, Geis C, Lewerenz J, Prüss H, Wandinger KP, Deuschl G, Leypoldt F. Distinct movement disorders in contactin-associated-protein-like-2 antibody associated autoimmune encephalitis. Brain. 2022 Jul 25:awac276. Epub ahead of print. PMID: 35875984. doi.org/10.1093/brain/awac276
Strippel C, Herrera-Rivero M, Wendorff M, Tietz AK, Degenhardt F, Witten A, Schroeter C, Nelke C, Golombeck KS, Madlener M, Rüber T, Ernst L, Racz A, Baumgartner T, Widman G, Doppler K, Thaler F, Siebenbrodt K, Dik A, Kerin C, Räuber S, Gallus M, Kovac S, Grauer OM, Grimm A, Prüss H, Wickel J, Geis C, Lewerenz J, Goebels N, Ringelstein M, Menge T, Tackenberg B, Kellinghaus C, Bien CG, Kraft A, Zettl U, Ismail FS, Ayzenberg I, Urbanek C, Sühs KW, Tauber SC, Mues S, Körtvélyessy P, Markewitz R, Paliantonis A, Elger CE, Surges R, Sommer C, Kümpfel T, Gross CC, Lerche H, Wellmer J, Quesada CM, Then Bergh F, Wandinger KP, Becker AJ, Kunz WS, Meyer Zu Hörste G, Malter MP, Rosenow F, Wiendl H, Kuhlenbäumer G, Leypoldt F, Lieb W, Franke A, Meuth SG, Stoll M, Melzer N; German Network for Research on Autoimmune Encephalitis (GENERATE). A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies. Brain. 2022 Mar 28:awac119. Epub ahead of print. PMID: 35348614. doi.org/10.1093/brain/awac119
Ding M, Qing X, Zhang G, Baade-Büttner C, Gruber R, Lu H, Ferguson DO, Geis C, Wang ZQ, Zhou ZW. The Essential DNA Damage Response Complex MRN Is Dispensable for the Survival and Function of Purkinje Neurons. Front Aging Neurosci. 2022 Jan 28;13:786199. PMID: 35153719; PMCID: PMC8831373. doi.org/10.3389/fnagi.2021.786199
Seltene periphere Nervenerkrankungen
Volk GF, Döhler M, Klinger CM, Weiss T, Guntinas-Lichius O. Sensory function in the faces of patients with facial palsy: A prospective observational study using quantitative sensory testing. Front Pain Res (Lausanne). 2022 Dec 19;3:1041905. PMID: 36600906; PMCID: PMC9806347. doi.org/10.3389/fpain.2022.1041905
Strobelt L, Kuttenreich AM, Volk GF, Beurskens C, Lehmann T, Schüler IM. Oral health and oral health-related quality of life in patients with chronic peripheral facial nerve palsy with synkineses-A case-control-study. PLoS One. 2022 Nov 17;17(11):e0276152. PMID: 36395343; PMCID: PMC9671450. doi.org/10.1371/journal.pone.0276152
Büchner T, Sickert S, Volk GF, Guntinas-Lichius O, Denzler J. Automatic Objective Severity Grading of Peripheral Facial Palsy Using 3D Radial Curves Extracted from Point Clouds. Stud Health Technol Inform. 2022 May 25;294:179-183. PMID: 35612052. doi.org/10.3233/SHTI220433
Kuttenreich AM, Volk GF, Guntinas-Lichius O, von Piekartz H, Heim S. Facial Emotion Recognition in Patients with Post-Paralytic Facial Synkinesis-A Present Competence. Diagnostics (Basel). 2022 May 4;12(5):1138. PMID: 35626294; PMCID: PMC9139660. doi.org/10.3390/diagnostics12051138
Schmidt F, Bradley K, Volk GF. Osteoradionecrosis of the Temporal Bone as a Rare Cause of Facial Nerve Palsy. Diagnostics (Basel). 2022 Apr 19;12(5):1021. PMID: 35626177; PMCID: PMC9140046. doi.org/10.3390/diagnostics12051021
Kurz A, Volk GF, Arnold D, Schneider-Stickler B, Mayr W, Guntinas-Lichius O. Selective Electrical Surface Stimulation to Support Functional Recovery in the Early Phase After Unilateral Acute Facial Nerve or Vocal Fold Paralysis. Front Neurol. 2022 Apr 4;13:869900. PMID: 35444611; PMCID: PMC9013944. doi.org/10.3389/fneur.2022.869900
Steinhäuser J, Volk GF, Thielker J, Geitner M, Kuttenreich AM, Klingner CM, Dobel C, Guntinas-Lichius O. Multidisciplinary Care of Patients with Facial Palsy: Treatment of 1220 Patients in a German Facial Nerve Center. J Clin Med. 2022 Jan 14;11(2):427. PMID: 35054119; PMCID: PMC8778429. doi.org/10.3390/jcm11020427
Rüschenschmidt H, Volk GF, Anders C, Guntinas-Lichius O. Electromyography of Extrinsic and Intrinsic Ear Muscles in Healthy Probands and Patients with Unilateral Postparalytic Facial Synkinesis. Diagnostics (Basel). 2022 Jan 5;12(1):121. PMID: 35054288; PMCID: PMC8775077. doi.org/10.3390/diagnostics12010121
Seltene Herz- und Lungenkrankheiten
Heiss J, Grün K, Tempel L, Matasci M, Schrepper A, Schwarzer M, Bauer R, Förster M, Berndt A, Jung C, Schulze PC, Neri D, Franz M. Targeted Interleukin-9 delivery in pulmonary hypertension: Comparison of immunocytokine formats and effector cell study. Eur J Clin Invest. 2022 Nov 15:e13907. Epub ahead of print. PMID: 36377348. doi.org/10.1111/eci.13907
Berndt A, Gaßler N, Franz M. Invasion-Associated Reorganization of Laminin 332 in Oral Squamous Cell Carcinomas: The Role of the Laminin γ2 Chain in Tumor Biology, Diagnosis, and Therapy. Cancers (Basel). 2022 Oct 7;14(19):4903. PMID: 36230826; PMCID: PMC9564360. doi.org/10.3390/cancers14194903
Boxhammer E, Gharibeh SX, Wernly B, Kelm M, Franz M, Kretzschmar D, Hoppe UC, Lauten A, Lichtenauer M. Conundrum of Classifying Subtypes of Pulmonary Hypertension-Introducing a Novel Approach to Classify "Borderline" Patients in a Population with Severe Aortic Stenosis Undergoing TAVI. J Cardiovasc Dev Dis. 2022 Sep 4;9(9):294. PMID: 36135439; PMCID: PMC9505198. doi.org/10.3390/jcdd9090294
Haertel F, Lenk K, Fritzenwanger M, Pfeifer R, Franz M, Memisevic N, Otto S, Lauer B, Weingärtner O, Kretzschmar D, Dannberg G, Westphal J, Baez L, Bogoviku J, Schulze PC, Moebius-Winkler S. Rationale and Design of JenaMACS-Acute Hemodynamic Impact of Ventricular Unloading Using the Impella CP Assist Device in Patients with Cardiogenic Shock. J Clin Med. 2022 Aug 8;11(15):4623. PMID: 35956238; PMCID: PMC9369529. doi.org/10.3390/jcm11154623
Mietz S, Diab M, Bäz L, Schulze PC, Möbius-Winkler S, Franz M. Successful Transcatheter Aortic Valve in JenaValve in Homograft Implantation in a 33-Year-Old Heart Failure Patient After Aortic and Mitral Valve Replacement Due to Severe Endocarditis 18 Years Ago. Cardiovasc Revasc Med. 2022 Jul;40S:322-324. Epub 2022 Jan 11. PMID: 35027289. doi.org/10.1016/j.carrev.2022.01.002
Diab M, Lehmann T, Bothe W, Akhyari P, Platzer S, Wendt D, Deppe AC, Strauch J, Hagel S, Günther A, Faerber G, Sponholz C, Franz M, Scherag A, Velichkov I, Silaschi M, Fassl J, Hofmann B, Lehmann S, Schramm R, Fritz G, Szabo G, Wahlers T, Matschke K, Lichtenberg A, Pletz MW, Gummert JF, Beyersdorf F, Hagl C, Borger MA, Bauer M, Brunkhorst FM, Doenst T; REMOVE Trial Investigators*. Cytokine Hemoadsorption During Cardiac Surgery Versus Standard Surgical Care for Infective Endocarditis (REMOVE): Results From a Multicenter Randomized Controlled Trial. Circulation. 2022 Mar 29;145(13):959-968. Epub 2022 Feb 25. PMID: 35213213. doi.org/10.1161/CIRCULATIONAHA.121.056940
Boxhammer E, Mirna M, Bäz L, Alushi B, Franz M, Kretzschmar D, Hoppe UC, Lauten A, Lichtenauer M. Comparison of PCWP and LVEDP Measurements in Patients with Severe Aortic Stenosis Undergoing TAVI-Same Same but Different? J Clin Med. 2022 May 25;11(11):2978. PMID: 35683367; PMCID: PMC9181042. doi.org/10.3390/jcm11112978
Topf A, Mirna M, Paar V, Motloch LJ, Bacher N, Franz M, Hoppe UC, Kretzschmar D, Lichtenauer M. Differential Diagnosis between Takotsubo Syndrome and Acute Coronary Syndrome-A Prospective Analysis of Novel Cardiovascular Biomarkers for a More Selective Triage. J Clin Med. 2022 May 25;11(11):2974. PMID: 35683362; PMCID: PMC9180967. doi.org/10.3390/jcm11112974
Hoffmann T, Oelzner P, Franz M, Teichgräber U, Renz D, Förster M, Böttcher J, Kroegel C, Schulze PC, Wolf G, Pfeil A. Assessing the diagnostic value of a potential screening tool for detecting early interstitial lung disease at the onset of inflammatory rheumatic diseases. Arthritis Res Ther. 2022 May 12;24(1):107. PMID: 35551650; PMCID: PMC9097403. doi.org/10.1186/s13075-022-02786-x
Boxhammer E, Mirna M, Bäz L, Bacher N, Topf A, Sipos B, Franz M, Kretzschmar D, Hoppe UC, Lauten A, Lichtenauer M. Soluble ST2 as a Potential Biomarker for Risk Assessment of Pulmonary Hypertension in Patients Undergoing TAVR? Life (Basel). 2022 Mar 8;12(3):389. PMID: 35330140; PMCID: PMC8954652. doi.org/10.3390/life12030389
Glutig K, Krüger PC, Oberreuther T, Teichgräber U, Lorenz M, Mentzel HJ, Krämer M. A novel free-breathing abdominal RAVE T2/T1 hybrid MRI sequence in patients with cystic fibrosis: Preliminary results. Eur J Radiol. 2022 Sep;154:110454. Epub 2022 Jul 27. PMID: 35917758. doi.org/10.1016/j.ejrad.2022.110454
Glutig K, Krüger PC, Oberreuther T, Nickel MD, Teichgräber U, Lorenz M, Mentzel HJ, Krämer M. Preliminary results of abdominal simultaneous multi-slice accelerated diffusion-weighted imaging with motion-correction in patients with cystic fibrosis and impaired compliance. Abdom Radiol (NY). 2022 May 21. Epub ahead of print. PMID: 35596778. doi.org/10.1007/s00261-022-03549-7
Jaudszus A, Pavlova M, Rasche M, Baier M, Moeser A, Lorenz M. One year monitoring of SARS-CoV-2 prevalence in a German cohort of patients with cystic fibrosis. BMC Pulm Med. 2022 Mar 24;22(1):101. PMID: 35331203; PMCID: PMC8943512. doi.org/10.1186/s12890-022-01900-8
Seltene Bindegewebskrankheiten
Hoffmann T, Gassler N, Teichgräber U, Sandhaus T, Oelzner P, Wolf G, Pfeil A. Clinical Images: Severe interstitial lung disease in Sjögren disease - What happens in the lungs? Inflammation or fibrosis? ACR Open Rheumatol. 2022 Dec 15. Epub ahead of print. PMID: 36519426. doi.org/10.1002/acr2.11516
Vo Chieu VD, Vo Chieu V, Dressler F, Kornemann N, Pfeil A, Böttcher J, Streitparth F, Berthold LD, Dohna M, Renz DM, Hellms S. Juvenile idiopathic arthritis of the knee: is contrast needed to score disease activity when using an augmented MRI protocol comprising PD-weighted sequences? Eur Radiol. 2022 Dec 6. Epub ahead of print. PMID: 36472701. doi.org/10.1007/s00330-022-09292-3
Keymling M, Schlemmer HP, Kratz C, Pfeil A, Bickelhaupt S, Alsady TM, Renz DM. Li-Fraumeni-Syndrom [Li-Fraumeni syndrome]. Radiologie (Heidelb). 2022 Dec;62(12):1026-1032. German. Epub 2022 Sep 27. PMID: 36166074. doi.org/10.1007/s00117-022-01071-x
Malich L, Gühne F, Hoffmann T, Malich A, Weise T, Oelzner P, Wolf G, Freesmeyer M, Pfeil A. Distribution patterns of arterial affection and the influence of glucocorticoids on 18F-fluorodeoxyglucose positron emission tomography/CT in patients with giant cell arteritis. RMD Open. 2022 Aug;8(2):e002464. PMID: 35953239; PMCID: PMC9379531. doi.org/10.1136/rmdopen-2022-002464
Hoffmann T, Oelzner P, Franz M, Teichgräber U, Renz D, Förster M, Böttcher J, Kroegel C, Schulze PC, Wolf G, Pfeil A. Assessing the diagnostic value of a potential screening tool for detecting early interstitial lung disease at the onset of inflammatory rheumatic diseases. Arthritis Res Ther. 2022 May 12;24(1):107. PMID: 35551650; PMCID: PMC9097403. doi.org/10.1186/s13075-022-02786-x
Seltene (angeborene) Fehlbildungen
Glutig K, Husain R, Renz D, John-Kroegel U, Mentzel HJ. Tuberöse-Sklerose-Komplex [Tuberous sclerosis complex]. Radiologie (Heidelb). 2022 Dec;62(12):1058-1066. German. Epub 2022 Aug 9. PMID: 35945379. doi.org/10.1007/s00117-022-01053-z
Glutig K, Krüger PC, Oberreuther T, Teichgräber U, Lorenz M, Mentzel HJ, Krämer M. A novel free-breathing abdominal RAVE T2/T1 hybrid MRI sequence in patients with cystic fibrosis: Preliminary results. Eur J Radiol. 2022 Sep;154:110454. Epub 2022 Jul 27. PMID: 35917758. doi.org/10.1016/j.ejrad.2022.110454
Stafrace S, Lobo L, Augdal TA, Avni FE, Bruno C, Damasio MB, Darge K, Franchi-Abella S, Herrmann J, Ibe D, Kljucevsek D, Mentzel HJ, Napolitano M, Ntoulia A, Ording-Müller LS, Perucca G, Petit P, Smets AM, Toso S, Woźniak MM, Riccabona M. Imaging of anorectal malformations: where are we now? Abdominal imaging task force of the European Society of Paediatric Radiology. Pediatr Radiol. 2022 Jun 1. Epub ahead of print. PMID: 35648164. doi.org/10.1007/s00247-022-05395-7
Glutig K, Krüger PC, Oberreuther T, Nickel MD, Teichgräber U, Lorenz M, Mentzel HJ, Krämer M. Preliminary results of abdominal simultaneous multi-slice accelerated diffusion-weighted imaging with motion-correction in patients with cystic fibrosis and impaired compliance. Abdom Radiol (NY). 2022 May 21. Epub ahead of print. PMID: 35596778. doi.org/10.1007/s00261-022-03549-7
van der Beek JN, Watson TA, Nievelstein RAJ, Brisse HJ, Morosi C, Lederman HM, Coma A, Gavra MM, Vult von Steyern K, Lakatos K, Breysem L, Varga E, Ducou Le Pointe H, Lequin MH, Schäfer JF, Mentzel HJ, Hötker AM, Calareso G, Swinson S, Kyncl M, Granata C, Aertsen M, Di Paolo PL, de Krijger RR, Graf N, Olsen ØE, Schenk JP, van den Heuvel-Eibrink MM, Littooij AS. MRI Characteristics of Pediatric Renal Tumors: A SIOP-RTSG Radiology Panel Delphi Study. J Magn Reson Imaging. 2022 Feb;55(2):543-552. PMID: 34363274. doi.org/10.1002/jmri.27878
Castellanos Gutierrez AS, Figueras F, Morales-Prieto DM, Schleußner E, Espinosa G, Baños N. Placental damage in pregnancies with systemic lupus erythematosus: A narrative review. Front Immunol. 2022 Aug 17;13:941586. PMID: 36059466; PMCID: PMC9428442. doi.org/10.3389/fimmu.2022.941586
2021
A-Zentrum
Franzka P, Henze H, Jung MJ, Schüler SC, Mittag S, Biskup K, Liebmann L, Kentache T, Morales J, Martínez B, Katona I, Herrmann T, Huebner AK, Hennings JC, Groth S, Gresing L, Horstkorte R, Marquardt T, Weis J, Kaether C, Mutchinick OM, Ori A, Huber O, Blanchard V, von Maltzahn J, Hübner CA. GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation. J Clin Invest. 2021 May 3;131(9):e139076. PMID: 33755596; PMCID: PMC8087212. doi.org/10.1172/JCI139076
Khundadze M, Ribaudo F, Hussain A, Stahlberg H, Brocke-Ahmadinejad N, Franzka P, Varga RE, Zarkovic M, Pungsrinont T, Kokal M, Ganley IG, Beetz C, Sylvester M, Hübner CA. Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. Autophagy. 2021 Nov;17(11):3690-3706. Epub 2021 Mar 9. PMID: 33618608; PMCID: PMC8632344. doi.org/10.1080/15548627.2021.1891848
Seltene Infektionen
Thieme L, Briggs S, Duffy E, Makarewicz O, Pletz MW. In Vitro Synergism of Penicillin and Ceftriaxone against Enterococcus faecalis. Microorganisms. 2021 Oct 14;9(10):2150. PMID: 34683470; PMCID: PMC8541343. doi.org/10.3390/microorganisms9102150
Ankert J, Frosinski J, Weis S, Boden K, Pletz MW. Incidence of chronic Q fever and chronic fatigue syndrome: A 6 year follow-up of a large Q fever outbreak. Transbound Emerg Dis. 2021 Jul 9. Epub ahead of print. PMID: 34240822. doi.org/10.1111/tbed.14224
Kimmig A, Hagel S, Weis S, Bahrs C, Löffler B, Pletz MW. Management of Staphylococcus aureus Bloodstream Infections. Front Med (Lausanne). 2021 Mar 5;7:616524. PMID: 33748151; PMCID: PMC7973019. doi.org/10.3389/fmed.2020.616524
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. 2021 Jun 7:S0091-6749(21)00891-5. Epub ahead of print. PMID: 34111452. doi.org/10.1016/j.jaci.2021.04.039
Reinsch S, Stallmach A, Grunert PC. The COVID-19 Pandemic: Fears and Overprotection in Pediatric Patients with Inflammatory Bowel Disease and Their Families. Pediatr Gastroenterol Hepatol Nutr. 2021 Jan;24(1):65-74. Epub 2021 Jan 8. PMID: 33505895; PMCID: PMC7813565. doi.org/10.5223/pghn.2021.24.1.65
Seltene hämatologische/hämostaseologische Erkrankungen
Seltene (neuro-)metabolische Erkrankungen
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain R, Hahn A. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease. Neuropediatrics. 2021 Dec 1. Epub ahead of print. PMID: 34852371. doi.org/10.1055/s-0041-1735250
Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA. Expanded phenotype of AARS1-related white matter disease. Genet Med. 2021 Dec;23(12):2352-2359. Epub 2021 Aug 27. PMID: 34446925. doi.org/10.1038/s41436-021-01286-8
Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. Lancet Child Adolesc Health. 2021 Oct 28:S2352-4642(21)00287-X. Epub ahead of print. PMID: 34756190. doi.org/10.1016/S2352-4642(21)00287-X
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. PMCID: PMC8546233. PMID: 34626583. doi.org/10.1016/j.ajhg.2021.08.003
Seltene Enzephalopathien
Gizak A, Diegmann S, Dreha-Kulaczewski S, Wiśniewski J, Duda P, Ohlenbusch A, Huppke B, Henneke M, Höhne W, Altmüller J, Thiele H, Nürnberg P, Rakus D, Gärtner J, Huppke P. A novel remitting leukodystrophy associated with a variant in FBP2. Brain Commun. 2021 Mar 11;3(2):fcab036. PMCID: PMC8097510. PMID: 33977262. doi.org/10.1093/braincomms/fcab036
Alroughani R, Huppke P, Mazurkiewicz-Beldzinska M, Blaschek A, Valis M, Aaen G, Pultz J, Peng X, Beynon V. Delayed-Release Dimethyl Fumarate Safety and Efficacy in Pediatric Patients With Relapsing-Remitting Multiple Sclerosis. Front Neurol. 2021 Jan 4;11:606418. PMID: 33473248; PMCID: PMC7812971. doi.org/10.3389/fneur.2020.606418
Meier K, Gärtner J, Huppke P. Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy. Neurol Neuroimmunol Neuroinflamm. 2020 Nov 23;8(1):e922. Erratum in: Neurol Neuroimmunol Neuroinflamm. 2021 Feb 2;8(2): PMID: 33229454; PMCID: PMC7713719. doi.org/10.1212/NXI.0000000000000922
Chitnis T, Banwell B, Krupp L, Arnold DL, Bar-Or A, Brück W, Giovannoni G, Greenberg B, Ghezzi A, Waubant E, Rostasy K, Deiva K, Huppke P, Wolinsky JS, Zhang Y, Azmon A, K-Laflamme A, Karan R, Gärtner J. Temporal profile of lymphocyte counts and relationship with infections with fingolimod therapy in paediatric patients with multiple sclerosis: Results from the PARADIGMS study. Mult Scler. 2021 May;27(6):922-932. Epub 2020 Jul 7. PMID: 32633694. doi.org/10.1177/1352458520936934
Sell J, Haselmann H, Hallermann S, Hust M, Geis C. Autoimmune encephalitis: novel therapeutic targets at the preclinical level. Expert Opin Ther Targets. 2021 Jan;25(1):37-47. Epub 2020 Dec 31. PMID: 33233983. doi.org/10.1080/14728222.2021.1856370
Gaig C, Compta Y, Heidbreder A, Marti MJ, Titulaer MJ, Crijnen Y, Högl B, Lewerenz J, Erro ME, Garcia-Monco JC, Nigro P, Tambasco N, Patalong-Ogiewa M, Erdler M, Macher S, Berger-Sieczkowski E, Höftberger R, Geis C, Hutterer M, Milán-Tomás A, Martin-Bastida A, Manzanares LL, Quintas S, Höglinger GU, Möhn N, Schoeberl F, Thaler FS, Asioli GM, Provini F, Plazzi G, Berganzo K, Blaabjerg M, Brüggemann N, Farias T, Ng CF, Giordana C, Herrero-San Martín A, Huebra L, Kotschet K, Liendl H, Montojo T, Morata C, Perez JP, Puertas I, Seifert-Held T, Seitz C, Simabukuro MM, Tellez N, Villacieros-Álvarez J, Willekens B, Sabater L, Iranzo A, Cano JS, Dalmau J, Graus F. Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease. Neurology. 2021 Aug 11;97(14):e1367–81. PMID: 34380749; PMCID: PMC8520389. Epub ahead of print. doi.org/10.1212/WNL.0000000000012639
Dürr M, Nissen G, Sühs KW, Schwenkenbecher P, Geis C, Ringelstein M, Hartung HP, Friese MA, Kaufmann M, Malter MP, Madlener M, Thaler FS, Kümpfel T, Senel M, Häusler MG, Schneider H, Bergh FT, Kellinghaus C, Zettl UK, Wandinger KP, Melzer N, Gross CC, Lange P, Dreyhaupt J, Tumani H, Leypoldt F, Lewerenz J; German Network for Research on Autoimmune Encephalitis. CSF Findings in Acute NMDAR and LGI1 Antibody-Associated Autoimmune Encephalitis. Neurol Neuroimmunol Neuroinflamm. 2021 Oct 25;8(6):e1086. PMID: 34697224; PMCID: PMC8546742. doi.org/10.1212/NXI.0000000000001086
Seltene periphere Nervenerkrankungen
Thielker J, Kuttenreich AM, Volk GF, Guntinas-Lichius O. Idiopathische Fazialisparese (Bell-Parese): Aktueller Stand in Diagnostik und Therapie [Diagnostics and Therapy of Idiopathic Facial Palsy (Bell's Palsy)]. Laryngorhinootologie. 2021 Dec;100(12):1004-1018. German. Epub 2021 Nov 26. PMID: 34826861. doi.org/10.1055/a-1529-3582
Ziadat R, Volk GF, Thielker J, Guntinas-Lichius O. Unwillkürliche Bewegungen der Ohrmuschel mit neuralgischen Schmerzen nach einer Tympanotomie [Unilateral auricle twitching with refractory neuralgic pain after a tympanotomy]. Laryngorhinootologie. 2021 Jun 16. German. Epub ahead of print. PMID: 34134170. doi.org/10.1055/a-1518-8386
Osthues M, Kuttenreich AM, Volk GF, Dobel C, Strauss B, Altmann U, Guntinas-Lichius O. Continual rehabilitation motivation of patients with postparalytic facial nerve syndrome. Eur Arch Otorhinolaryngol. 2022 Jan;279(1):481-491. Epub 2021 May 24. PMID: 34027598; PMCID: PMC8141409. doi.org/10.1007/s00405-021-06895-2
Volk GF, Kuttenreich AM, Geitner M, Guntinas-Lichius O. Eine akute Fazialisparese als mögliche Impfkomplikation bei einer Impfung gegen SARS-CoV-2 [Acute facial paresis as a possible complication of vaccination against SARS-CoV-2]. Laryngorhinootologie. 2021 Jul;100(7):526-528. German. Epub 2021 May 11. PMID: 33975372. doi.org/10.1055/a-1501-0470
Arnold D, Thielker J, Klingner CM, Puls WC, Misikire W, Guntinas-Lichius O, Volk GF. Selective Surface Electrostimulation of the Denervated Zygomaticus Muscle. Diagnostics (Basel). 2021 Jan 28;11(2):188. PMID: 33525522; PMCID: PMC7912406. doi.org/10.3390/diagnostics11020188
Geißler K, Urban E, Volk GF, Klingner CM, Witte OW, Guntinas-Lichius O. Non-idiopathic peripheral facial palsy: prognostic factors for outcome. Eur Arch Otorhinolaryngol. 2021 Sep;278(9):3227-3235. Epub 2020 Oct 6. PMID: 33025045; PMCID: PMC8328849. doi.org/10.1007/s00405-020-06398-6
Volk GF, Hesse S, Geißler K, Kuttenreich AM, Thielker J, Dobel C, Guntinas-Lichius O. Role of Body Dysmorphic Disorder in Patients With Postparalytic Facial Synkinesis. Laryngoscope. 2021 Sep;131(9):E2518-E2524. Epub 2021 Mar 17. PMID: 33729598. doi.org/10.1002/lary.29526
Obermann M, Nägel S, Ose C, Sonuc N, Scherag A, Storch P, Gaul C, Böger A, Kraya T, Jansen JP, Straube A, Freilinger T, Kaube H, Jürgens TP, Diener HC, Katsarava Z, Kleinschnitz C, Holle D. Safety and efficacy of prednisone versus placebo in short-term
prevention of episodic cluster headache: a multicentre, double-blind, randomised controlled trial. Lancet Neurol. 2021 Jan;20(1):29-37. Epub 2020 Nov 24. PMID: 33245858. doi.org/10.1016/S1474-4422(20)30363-X
Seltene Herz- und Lungenkrankheiten
Zechel M, Franz M, Baier M, Hagel S, Schleenvoigt BT. Pericarditis as a cardiac manifestation of acute leptospirosis. Infection. 2021 Apr;49(2):349-353. Epub 2020 Aug 10. PMID: 32779123; PMCID: PMC7990837. doi.org/10.1007/s15010-020-01496-3
Schwarz C, Töre Y, Hoesker V, Ameling S, Grün K, Völker U, Schulze PC, Franz M, Faber C, Schaumburg F, Niemann S, Hoerr V. Host-pathogen interactions of clinical S. aureus isolates to induce infective endocarditis. Virulence. 2021 Dec;12(1):2073-2087. PMID: 34490828; PMCID: PMC8425731. doi.org/10.1080/21505594.2021.1960107
Gouyou B, Grün K, Kerschenmeyer A, Villa A, Matasci M, Schrepper A, Pfeil A, Bäz L, Jung C, Schulze PC, Neri D, Franz M. Therapeutic Evaluation of Antibody-Based Targeted Delivery of Interleukin 9 in Experimental Pulmonary Hypertension. Int J Mol Sci. 2021 Mar 27;22(7):3460. PMID: 33801620; PMCID: PMC8037792. doi.org/10.3390/ijms22073460
Bäz L, Roßberg M, Grün K, Kretzschmar D, Berndt A, Schulze PC, Jung C, Franz M. Serum Liberation of Fetal Fibronectin Variants in Patients with Pulmonary Hypertension: ED-A+ Fn as Promising Novel Biomarker of Pulmonary Vascular and Right Ventricular Myocardial Remodeling. J Clin Med. 2021 Jun 9;10(12):2559. PMID: 34207881; PMCID: PMC8229629. doi.org/10.3390/jcm10122559
Diab M, Lehmann T, Weber C, Petrov G, Luehr M, Akhyari P, Tugtekin SM, Schulze PC, Franz M, Misfeld M, Borger MA, Matschke K, Wahlers T, Lichtenberg A, Hagl C, Doenst T. Role of Concomitant Coronary Artery Bypass Grafting in Valve Surgery for Infective Endocarditis. J Clin Med. 2021 Jun 28;10(13):2867. PMID: 34203358; PMCID: PMC8267636. doi.org/10.3390/jcm10132867
Jaudszus A, Pfeifer E, Lorenz M, Beiersdorf N, Hipler UC, Zagoya C, Mainz JG. Abdominal Symptoms Assessed with the CFAbd-Score are Associated with Intestinal Inflammation in Patients with Cystic Fibrosis. J Pediatr Gastroenterol Nutr. 2021 Nov 16. Epub ahead of print. PMID: 34789668. doi.org/10.1097/MPG.0000000000003357
Seltene Bindegewebskrankheiten
Gouyou B, Grün K, Kerschenmeyer A, Villa A, Matasci M, Schrepper A, Pfeil A, Bäz L, Jung C, Schulze PC, Neri D, Franz M. Therapeutic Evaluation of Antibody-Based Targeted Delivery of Interleukin 9 in Experimental Pulmonary Hypertension. Int J Mol Sci. 2021 Mar 27;22(7):3460. PMID: 33801620; PMCID: PMC8037792. doi.org/10.3390/ijms22073460
Pfeil A. Calcium pyrophosphate crystal deposition in Gitelman syndrome: which joint is affected? Rheumatology (Oxford). 2021 Sep 23:keab705. Epub ahead of print. PMID: 34554234. doi.org/10.1093/rheumatology/keab705
Hoffmann T, Oelzner P, Busch M, Franz M, Teichgräber U, Kroegel C, Schulze PC, Wolf G, Pfeil A. Organ Manifestation and Systematic Organ Screening at the Onset of Inflammatory Rheumatic Diseases. Diagnostics (Basel). 2021 Dec 29;12(1):67. PMID: 35054234; PMCID: PMC8774450. doi.org/10.3390/diagnostics12010067
Regierer AC, Hasseli R, Schäfer M, Hoyer BF, Krause A, Lorenz HM, Pfeil A, Richter J, Schmeiser T, Schulze-Koops H, Strangfeld A, Voll RE, Specker C, Mueller-Ladner U. TNFi is associated with positive outcome, but JAKi and rituximab are associated with negative outcome of SARS-CoV-2 infection in patients with RMD. RMD Open. 2021 Oct;7(3):e001896. PMID: 34670840; PMCID: PMC8529615. doi.org/10.1136/rmdopen-2021-001896
Hoffmann T, Mawrin C, Oelzner P, Wolf G, Pfeil A. Musculoskeletal Ultrasound Can Aid in Diagnosis and Follow-up of a Patient With Eosinophilic Fasciitis. J Clin Rheumatol. 2021 Dec 1;27(8S):S784-S785. PMID: 32976198. doi.org/10.1097/RHU.0000000000001477
Hasseli R, Mueller-Ladner U, Hoyer BF, Krause A, Lorenz HM, Pfeil A, Richter J, Schäfer M, Schmeiser T, Strangfeld A, Schulze-Koops H, Voll RE, Specker C, Regierer AC. Older age, comorbidity, glucocorticoid use and disease activity are risk factors for COVID-19 hospitalisation in patients with inflammatory rheumatic and musculoskeletal diseases. RMD Open. 2021 Jan;7(1):e001464. PMID: 33479021; PMCID: PMC7823432. doi.org/10.1136/rmdopen-2020-001464
Izadi Z, Brenner EJ, Mahil SK, Dand N, Yiu ZZN, Yates M, Ungaro RC, Zhang X, Agrawal M, Colombel JF, Gianfrancesco MA, Hyrich KL, Strangfeld A, Carmona L, Mateus EF, Lawson-Tovey S, Klingberg E, Cuomo G, Caprioli M, Cruz-Machado AR, Mazeda Pereira AC, Hasseli R, Pfeil A, Lorenz HM, Hoyer BF, Trupin L, Rush S, Katz P, Schmajuk G, Jacobsohn L, Seet AM, Al Emadi S, Wise L, Gilbert EL, Duarte-García A, Valenzuela-Almada MO, Isnardi CA, Quintana R, Soriano ER, Hsu TY, D'Silva KM, Sparks JA, Patel NJ, Xavier RM, Marques CDL, Kakehasi AM, Flipo RM, Claudepierre P, Cantagrel A, Goupille P, Wallace ZS, Bhana S, Costello W, Grainger R, Hausmann JS, Liew JW, Sirotich E, Sufka P, Robinson PC, Machado PM, Griffiths CEM, Barker JN, Smith CH, Yazdany J, Kappelman MD. Psoriasis Patient Registry for Outcomes, Therapy and Epidemiology of COVID-19 Infection (PsoProtect); the
Secure Epidemiology of Coronavirus Under Research Exclusion for Inflammatory Bowel Disease (SECURE-IBD); and the COVID-19 Global Rheumatology Allianc; Psoriasis Patient Registry for Outcomes, Therapy and Epidemiology of COVID-19 Infection (PsoProtect); the Secure Epidemiology of Coronavirus Under Research Exclusion for Inflammatory Bowel Disease (SECURE-IBD); and the COVID-19 Global Rheumatology Alliance (GRA). Association Between Tumor Necrosis Factor Inhibitors and the Risk of Hospitalization or Death Among Patients With Immune-Mediated Inflammatory Disease and COVID-19. JAMA Netw
Open. 2021 Oct 1;4(10):e2129639. doi: 10.1001/jamanetworkopen.2021.29639. PMID: 34661663; PMCID: PMC8524310. doi.org/10.1001/jamanetworkopen.2021.29639
Seltene (angeborene) Fehlbildungen
Oppelt P, Binder H, Birraux J, Brucker S, Dingeldein I, Draths R, Eckoldt F, Füllers U, Hiort O, Hoffmann D, Hoopmann M, Hucke J, Korell M, Kühnert M, Ludwikowski B, Mentzel HJ, Mon OʼDey D, Rall K, Riccabona M, Rimbach S, Schäffeler N, Shavit S, Stein R, Utsch B, Wenzl R, Wieacker P, Zeino M. Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019). Geburtshilfe Frauenheilkd. 2021 Dec 8;81(12):1307-1328. PMID: 34899045; PMCID: PMC8654513. doi.org/10.1055/a-1471-4781
Oppelt P, Binder H, Birraux J, Brucker S, Dingeldein I, Draths R, Eckoldt F, Füllers U, Hiort O, Hoffmann D, Hoopmann M, Hucke J, Korell M, Kühnert M, Ludwikowski B, Mentzel HJ, Mon OʼDey D, Rall K, Riccabona M, Rimbach S, Schäffeler N, Shavit S, Stein R, Utsch B, Wenzl R, Wieacker P, Zeino M. Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019). Geburtshilfe Frauenheilkd. 2021 Dec 8;81(12):1329-1347. PMID: 34899046; PMCID: PMC8654518. doi.org/10.1055/a-1471-4988
Moschos E, Renz DM, Abubrig M, Mentzel HJ. Mikrokalkdetektion bei diffus sklerosierendem papillärem Schilddrüsenkarzinom einer 11-Jährigen. Laryngorhinootologie. 2021 Jan;100(1):57-59. German. doi: 10.1055/a-1307-3288. Epub 2021 Jan 5. PMID: 33401321. Mentzel HJ, Freesmeyer M, Eckoldt-Wolke F, Vilser C. Phäochromozytom im Kindesalter – Contrast-enhanced Ultrasound (CEUS) als mögliche Alternative zur kontrastverstärkten MRT in der Diagnostik von Nebennierentumoren. Rofo. 2021 Dec;193(12):1467-1469. German. Epub 2021 Jun 2. PMID: 34077978. doi.org/10.1055/a-1502-7499
Napolitano M, Franchi-Abella S, Damasio MB, Augdal TA, Avni FE, Bruno C, Darge K, Ključevšek D, Littooij AS, Lobo L, Mentzel HJ, Riccabona M, Stafrace S, Toso S, Woźniak MM, Di Leo G, Sardanelli F, Ording Müller LS, Petit P. Practical approach to imaging diagnosis of biliary atresia, Part 1: prenatal ultrasound and magnetic resonance imaging, and postnatal ultrasound. Pediatr Radiol. 2021 Feb;51(2):314-331. Epub 2020 Nov 17. Erratum in: Pediatr Radiol. 2020 Dec 24;: PMID: 33201318. doi.org/10.1007/s00247-020-04840-9
Napolitano M, Franchi-Abella S, Damasio BM, Augdal TA, Avni FE, Bruno C, Darge K, Ključevšek D, Littooij AS, Lobo L, Mentzel HJ, Riccabona M, Stafrace S, Toso S, Woźniak MM, Di Leo G, Sardanelli F, Ording Müller LS, Petit P. Practical approach for the diagnosis of biliary atresia on imaging, part 2: magnetic resonance cholecystopancreatography, hepatobiliary scintigraphy, percutaneous cholecysto-cholangiography, endoscopic retrograde cholangiopancreatography, percutaneous liver biopsy, risk scores and decisional flowchart. Pediatr Radiol. 2021 Jul;51(8):1545-1554. Epub 2021 May
11. PMID: 33974103. doi.org/10.1007/s00247-021-05034-7
Gruhn B, Brodt G, Mentzel HJ, Ernst J. Two Cases of Veno-occlusive Disease/Sinusoidal Obstruction Syndrome After Thioguanine Treatment for Acute Lymphoblastic Leukemia. J Pediatr Hematol Oncol. 2021 Apr 21. Epub ahead of print. PMID: 33885036. doi.org/10.1097/MPH.0000000000002172
Glutig K, Alhussami I, Krüger PC, Waginger M, Eckoldt F, Mentzel HJ. Case Report: Report of 2 Different Cases of Ovarian Teratoma Evaluated by Dynamic Contrast-Enhanced Ultrasound. Front Pediatr. 2021 Jun 11;9:681404. PMID: 34178898; PMCID: PMC8226026. doi.org/10.3389/fped.2021.681404
Hahn G, Mentzel HJ. Tumoren des Zentralnervensystems im Kindes- und Jugendalter [Tumors of the central nervous system in children and adolescents]. Radiologe. 2021 Jul;61(7):601-610. German. Epub 2021 Jun 30. PMID: 34191042. doi.org/10.1007/s00117-021-00860-0
Dargel S, Stenzel M, Stöver B, Schleußner E, Wittschieber D, Banaschak S, Mentzel HJ. Leitlinientreue und Qualitätssicherung in der bildgebenden Diagnostik bei Verdacht auf Kindesmisshandlung in Deutschland [Guideline adherence and quality assurance in radiological diagnostics in cases of suspected child abuse in Germany]. Radiologe. 2021 Oct;61(10):947-954. German. Epub 2021 Jul 2. PMID: 34213624; PMCID: PMC8481184. doi.org/10.1007/s00117-021-00872-w
Heidtmann F, Eckoldt F, Mentzel HJ, Alhussami I. Primary Segmental Small Bowel Volvulus in an Adolescent Female. European J Pediatr Surg Rep. 2021 Nov 24;9(1):e76-e79. PMCID: PMC8612868. PMID: 34849329. doi.org/10.1055/s-0041-1735808
Wittschieber D, Muggenthaler H, Mall G, Mentzel HJ. Brückenvenenverletzungen bei Schütteltrauma: Forensisch-radiologische Metaanalyse unter besonderer Berücksichtigung des „Tadpole“-Zeichens [Bridging vein injuries in shaken baby syndrome: Forensic-radiological meta-analysis with special focus on the tadpole sign]. Radiologe. 2021 Jan;61(1):71-79. German. PMID: 33289862; PMCID: PMC7810648. doi.org/10.1007/s00117-020-00780-5
Jurk SM, Kremer AE, Schleussner E. Intrahepatic Cholestasis of Pregnancy. Geburtshilfe Frauenheilkd. 2021 Aug;81(8):940-947. Epub 2021 Aug 9. PMID: 34393257; PMCID: PMC8354350. doi.org/10.1055/a-1522-5178
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