Results 231 to 240 of about 4,553,133 (313)

Stepwise Diagnostic Evaluation of Chinese Large Language Models: Comparative Study of Common and Rare Diseases. [PDF]

J Med Internet Res
Wang J, Yang J, Guo R.
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases. [PDF]

iScience
Pérez-García J, García-Criado F, Pazos F, Chagoyen M, Rojano E, Seoane P, Ranea JAG.   +6 more
europepmc   +1 more source

Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal, Gowtham Yerneni, Kim J. Griffin, Nicolas Thompson, Ken Uchino, Irene Katzan, Dolora Wisco, Abeer Farrag, Jayashree Sundarajan, Andrew Russman, M. Shazam Hussain   +10 more
wiley   +1 more source

Editorial for Special Issue on Gene Therapy of Rare Diseases. [PDF]

Cells
Brakebusch C.
europepmc   +1 more source

Prevalence of Systemic Lupus Erythematosus in Australia, 2010–2022: A Population‐Based Study Using Linked National Administrative Health Data

Arthritis Care &Research, EarlyView.
Objective Systemic lupus erythematosus (SLE) is a heterogenous inflammatory condition with widely varying global prevalence estimates. The frequency of SLE in the general population of Australia has been reported to be notably lower than contemporary estimates in countries such as the United States or United Kingdom, at 19 to 39 per 100,000 as opposed ...
Lucinda Roper, Rachel Black, Joanna Tieu, Winnie Chen, Matthew Parker, Catherine Hill, Natasha Nassar, Mandana Nikpour   +7 more
wiley   +1 more source

Pregnancies in women with rare diseases: Selected maternal and perinatal outcomes. [PDF]

Acta Obstet Gynecol Scand
Kosian P, Niederhöfer K, Jost E, Gembruch U, Bender T, Grigull L, Merz WM.   +6 more
europepmc   +1 more source

Using a lottery to resolve indeterminacy when allocating resources for drugs for rare diseases. [PDF]

J Med Ethics
Bond K, Sandman L, Gustavsson E.
europepmc   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among patients receiving long‐term HCQ with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain optical coherence tomography (SD‐OCT) for screening ...
Narsis Daftarian, Chloe Yue, Steve D Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source

Epidermolysis bullosa and global challenges in translational research for rare diseases. [PDF]

Einstein (Sao Paulo)
Martin PKM, Viana LKL, Sanfins MD.
europepmc   +1 more source