Results 251 to 260 of about 7,998,845 (308)

Rare disease clinical trials in Italy (2022-May 2026): current trends, future challenges, and the evolving role as reporting member state. [PDF]

Front Pharmacol
De Paola E, Galliccia F, Maione R, Verrelli NM, Dri DA.   +4 more
europepmc   +1 more source

Real‐World Safety and Effectiveness of JAK Inhibitors in Systemic Sclerosis: A Propensity‐Matched Study From the EUSTAR Cohort

Arthritis Care &Research, EarlyView.
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato, Marie‐Elise Truchetet, Marco Minerba, Oliver Distler, Juan José Alegre Sancho, Yolanda Braun‐Moscovici, Christina Bergmann, Petros Sfikakis, Jeska K. de Vries‐Bouwstra, Murray Baron, Silvia Bellando‐Randone, Lorenzo Dagna, Christopher P. Denton, Madelon C. Vonk, Vanessa Smith, Ivan Castellvi, Gabriela Riemekasten, Andra Balanescu, Masataka Kuwana, Maria De Santis, Kamal Solanki, Anastas Batalov, Vahan Mukuchyan, Marco Matucci‐Cerinic, Yannick Allanore, Francesco Del Galdo, Michael Hughes, EUSTAR Collaborators   +27 more
wiley   +1 more source

An agentic system for rare disease diagnosis with traceable reasoning. [PDF]

Nature
Zhao W, Wu C, Fan Y, Qiu P, Zhang X, Sun Y, Zhou X, Zhang S, Peng Y, Wang Y, Sun X, Zhang Y, Yu Y, Sun K, Xie W.   +14 more
europepmc   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Haemophilus influenzae Epiglottitis: A Rare Disease Not to Be Forgotten. [PDF]

Cureus
Ferreira M, Condessa L, Roquette M, Antão R, Cardoso C, Chaves M.   +5 more
europepmc   +1 more source

Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references. [PDF]

Eur J Hum Genet
Folland C, Monahan G, Breen J, Johari M, Patel HR, Ravenscroft G.   +5 more
europepmc   +1 more source

Opportunities and challenges in automated coding of electronic health records: a pilot study for rare disease registries. [PDF]

Front Digit Health
Paoli D, Lanza M, Banchelli F, Boarini M, Borghi S, Sangiorgi L, Mordenti M.   +6 more
europepmc   +1 more source

Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in Sweden. [PDF]

J Community Genet
Soller MJ, Luckhaus JL, Juran S, Malmgren CI.   +3 more
europepmc   +1 more source