Results 51 to 60 of about 11,580,920 (364)

RareBERT: Transformer Architecture for Rare Disease Patient Identification using Administrative Claims

AAAI Conference on Artificial Intelligence, 2021
A rare disease is any disease that affects a very small percentage (1 in 1,500) of population. It is estimated that there are nearly 7,000 rare disease affecting 30 million patients in the U. S. alone.
P. K. Prakash, S. Chilukuri, N. Ranade, S. Viswanathan   +3 more
semanticscholar   +1 more source

Measuring health-related quality of life in patients with rare disease

Journal of Patient-Reported Outcomes, 2021
Background There has been a growing emphasis on health-related quality of life (HRQoL) as an important outcome in rare disease drug development, although its assessment may be useful outside the drug development context, including in clinical ...
W. Lenderking, M. Anatchkova, R. Pokrzywinski, A. Skalicky, Mona L. Martin, H. Gelhorn   +5 more
semanticscholar   +1 more source

A mouse anti-myostatin antibody increases muscle mass and improves muscle strength and contractility in the mdx mouse model of Duchenne muscular dystrophy and its humanized equivalent, domagrozumab (PF-06252616), increases muscle volume in cynomolgus monkeys

Skeletal Muscle, 2017
Background The treatments currently approved for Duchenne muscular dystrophy (DMD), a progressive skeletal muscle wasting disease, address the needs of only a small proportion of patients resulting in an urgent need for therapies that benefit all ...
Michael St. Andre, Mark Johnson, Prashant N. Bansal, Jeremy Wellen, Andrew Robertson, Alan Opsahl, Peter M. Burch, Peter Bialek, Carl Morris, Jane Owens   +9 more
doaj   +1 more source

Clinically important change for the FACIT-Fatigue scale in paroxysmal nocturnal hemoglobinuria: a derivation from international PNH registry patient data

Journal of Patient-Reported Outcomes, 2023
Background Fatigue is the most common symptom associated with paroxysmal nocturnal hemoglobinuria (PNH). The objective of this analysis was to estimate values that would suggest a clinically important change (CIC) for the functional assessment of chronic
David Cella, Peter Johansson, Yasutaka Ueda, Ioannis Tomazos, Philippe Gustovic, Alice Wang, Ami S. Patel, Hubert Schrezenmeier   +7 more
doaj   +1 more source

Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths

Disease Models & Mechanisms, 2021
Although nearly 10% of Americans suffer from a rare disease, clinical progress in individual rare diseases is severely compromised by lack of attention and research resources compared to common diseases.
Peter A. Kropp, R. Bauer, Isabella Zafra, C. Graham, A. Golden   +4 more
semanticscholar   +1 more source

Risk factors for pregnancy-related clinical outcome in myasthenia gravis: a systemic review and meta-analysis

Orphanet Journal of Rare Diseases, 2022
Objective Myasthenia gravis (MG) is an autoimmune disorder that frequently affects females at reproductive age. Herein, we aimed to assess the associations of clinical factors with pregnancy-related outcome in MG.
Manqiqige Su, Xiaoqing Liu, Liang Wang, Jie Song, Zhirui Zhou, Sushan Luo, Chongbo Zhao   +6 more
doaj   +1 more source

Expert Consensus on Rare Disease Pharmaceutical Care in Hospitals (2025)

Xiehe Yixue Zazhi
In recent years, with strong support from the national government, the diagnosis and treatment of rare diseases in China have achieved significant progress.
Rare Disease Drug Committee of the Chinese Pharmaceutical Association
doaj   +1 more source

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

Orphanet Journal of Rare Diseases, 2021
Background Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements for approval of drugs.
W. Gahl, D. Wong-Rieger, V. Hivert, Rachel Yang, Galliano Zanello, S. Groft   +5 more
semanticscholar   +1 more source

Identifying Rare Events in Rare Diseases [PDF]

Clinical Cancer Research, 2015
Abstract Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer
Edward F. Attiyeh, John M. Maris
openaire   +3 more sources

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

罕见病研究
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases.
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee   +2 more
doaj   +1 more source