Results 151 to 160 of about 5,456,377 (265)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

The Global Burden of Hepatitis B From 1990 to 2021: Trends, Socioeconomic Inequalities, and Predictions to 2035

International Journal of Clinical Practice
Miaoqing Ye, Xinzhu Guan, Panyue Yan, Yujie Guan, Minying Li, Yilin Yang, Jinyu He, Wenping Liu, Dong Deng   +8 more
doaj   +1 more source

Joint Relationship of Cardiovascular-kidney-metabolic Syndrome and Psoriasis with All-cause and Cause-specific Mortality in Adults: A Population-based Analysis. [PDF]

Acta Derm Venereol
Zhou J, Ge H, Huang B, Wang Y, Xiang H.
europepmc   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Mistaken Identity: Superior Mesenteric Vein Syndrome Presenting as Superior Mesenteric Artery Syndrome. [PDF]

ACG Case Rep J
Patel P, Vinall A, Patel S, Kuwelker S, Katabathina V, Echavarria J.   +5 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. [PDF]

J Bone Miner Res
Webb RF, McCurry H, Girod A, Hughes M, Wilcox E, Patel M, Broeren EC, Tshering KC, DiStefano M, Botto LD, Burrage LC, Cormier-Daire V, Dong J, Ehmke N, Krakow D, Moosa S, Mortier G, Nagamani S, Pena L, Sanchez-Lara PA, Superti-Furga A, Unger S, Velasco D, Warman ML, Brown K, D'Cunha Burkardt D, Ferreira CR, ClinGen Skeletal Disorders Gene Curation Expert Panel.   +27 more
europepmc   +1 more source

Anti‐CD19 CAR T Cells in Autoimmune Encephalitis: Inflammation Controlled, Neurodegeneration Unchecked?

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos, Marwa Al‐Dubai, Denise Walther, Dominic Borie, Jan D. Lünemann, Marc Pawlitzki, Sven G. Meuth, Solveig Henneicke, Stefan Vielhaber, Stefanie Schreiber   +9 more
wiley   +1 more source

A Rare Case of Seminoma in an Elderly Patient With Suspected Lynch Syndrome. [PDF]

Clin Case Rep
Kamandi M, Boozari M, Soltani E, Soltani S.   +3 more
europepmc   +1 more source

Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS).

Human Reproduction, 2004
B. Fauser
semanticscholar   +1 more source