Publikationen
2024
Bertrand A, Sha G, Pedersen BS, Schulz A, Weise A, Liehr T, Huppke P, Quinlan AR, Haack TB, Husain RA. De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome. Mol Syndromol 2024 1–9. https://doi.org/10.1159/000538918
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