Results 181 to 190 of about 2,414,789 (346)

A Real-World Study of Mepolizumab in Patients with EGPA and HES: Insights in Rare Eosinophilic Disease [PDF]

Thanai Pongdee, Jared Silver, Hannah Barman, Unice Yoo, Safak Simsek, Prerna Singh, Jeremiah Hwee, Waseem Ahmed, Tyler D. Wagner, A. Edgecomb   +9 more
openalex   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Quantifying coding integrity and reliability of ICD-11 MMS for rare disease registration: a case study of the Chinese rare disease catalogue. [PDF]

BMC Med Inform Decis Mak
Bai X, Guo J, Zhang M, Wang Y, Li N.
europepmc   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

P084: High efficacy on low-dose empagliflozin efficacy in glycogen storage disease-1b sibling pair

Genetics in Medicine Open
Jennifer Russell, Nidhi Gupta, Nina Mickle, Emily Way, Niccole Piguet, Debra Regier   +5 more
doaj   +1 more source

Implementing electronic informed consent in rare disease genomics. [PDF]

Sci Rep
Ekholm K, Augustinsson A, Sundström J, Johansen C, Storgärds M, Ljöstad L, Taylan F, Ekblom E, Juran S, Ek M, Malmgren CI, Soller MJ, Friedman M, Thunström S, Lovmar L, Nordgren A, Ehrencrona H, Lindstrand A.   +17 more
europepmc   +1 more source

PO:26:095 | Educational online webinars of European Reference Network on rare and complex connective tissue and musculoskeletal diseases for patients, caregivers and healthcare professionals: six years' experience

Società Italiana Di Reumatologia
openalex   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

Clinical management and therapeutic development for the rare disease rhabdomyosarcoma. [PDF]

J Cancer
Ke TL, Chen L.
europepmc   +1 more source

Diabetic myonecrosis of the gastro-soleus: A rare complication of a common disease

Rebecca John, Padmavathi Thirumkudlu Narsipura Govindachari, Kripa Elizabeth Cherian   +2 more
openalex   +1 more source