Results 71 to 80 of about 13,095,395 (361)
The challenges of clinical trials in rare diseases
British Journal of Dermatology, 2022 Undertaking any clinical trial can be laden with obstacles and challenges. Both commercial trials and academically sponsored studies share questions around trial design, recruitment targets, mitigating dropout and, ultimately, challenges of regulatory ...
J. Mellerio
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The Progression and Problems in Diagnosis and Treatment of Rare Neurological Diseases [PDF]
, 2022 Rare neurological diseases contain of a great variety of different disease and difficult to diagnose and cure. In the past years, many drugs are approved for treatment of the rare diseases, bringing hope to patients. However, these drugs are usually very
CUI Liying, LIU Mingsheng
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Genome Sequencing for Diagnosing Rare Diseases
New England Journal of MedicineBACKGROUND Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains poorly defined.
M. Wojcik +88 more
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Orphanet Journal of Rare Diseases, 2022 Background Challenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by disease-specific complexities, such as a prolonged diagnostic process, an uncertain prognosis, and the absence ...
Rosanne M. Smits +7 more
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The Diagnosis and Treatment of Rare Diseases in Children: Now and Future [PDF]
, 2022 Rare diseases refer to a group of diseases having very low incident rates in the population without unified definition up till now. Approximately 50% to 75% of rare diseases occur at birth or in childhood, incurring huge psychological and economic burden
NI Xin, HAO Chanjuan
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Health and Quality of Life Outcomes, 2020 Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new ...
Nathalie M. Vandevelde +20 more
doaj +1 more source
Expert Guidelines for the Diagnosis, Treatment, and Management of Mycosis Fungoides in China
罕见病研究, 2023 Mycosis fungoides (MF) is a cutaneous lymphoma originating from memory helper T cells. The lesion caused by classical type of MF is characterized by the progression from patches at early stages, advancing to more infiltrated plaques and eventually to ...
Rare Skin Disease Committee of China Alliance for Rare Diseases +2 more
doaj +1 more source
Lipedema, a Rare Disease [PDF]
Annals of Rehabilitation Medicine, 2011 Lipedema is a chronic disease of lipid metabolism that results in the symmetrical impairment of fatty tissue distribution and storage combined with the hyperplasia of individual fat cells. Lipedema occurs almost exclusively in women and is usually associated with a family history and characteristic features.
Shin, Bae Wook +3 more
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Research and development of oligonucleotide therapeutics in Japan for rare diseases
Future Rare Diseases, 2022 Inherited gene mutations, insertions, deletions of single genes cause most of the rare diseases. Oligonucleotide therapeutics represent one of the most flexible platforms for developing drugs for rare diseases.
Junetsu Igarashi +2 more
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