Results 51 to 60 of about 4,553,133 (313)

Recent Polices and Practice in Rare Diseases in China

, 2022
Rare disease (RD)is the general term for a class of diseases with very low prevalence.Due to the relatively small number of patients with rare diseases, the diagnosis and treatment, drug research and development, medical safeguard, and scientific ...
ZHANG Shuyang, ZHANG Xue
core   +1 more source

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

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin, Bérengère Koehl, Audrey Maudoux, Hanine Mansour, Marie‐Hélène Odievre, Nathalie Garrec, Emilie Georget, Cécile Arnaud, Slimane Allali, Lydia Doumdo, Marie Belloy, Corinne Guitton   +11 more
wiley   +1 more source

Comparison of statistical tests for association between rare variants and binary traits. [PDF]

, 2012
Genome-wide association studies have found thousands of common genetic variants associated with a wide variety of diseases and other complex traits. However, a large portion of the predicted genetic contribution to many traits remains unknown.
Nelson Matthew R., Nelson, Matthew R., John C Whittaker, John C. Whittaker (51412), Whittaker, John C., Silviu-Alin Bacanu (143389), Nelson, Matthew R, Whittaker, John C, Bacanu Silviu-Alin, Whittaker John C., Silviu-Alin Bacanu, Matthew R Nelson, Bacanu, Silviu-Alin, Matthew R. Nelson (143393)   +13 more
core   +2 more sources

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Scientific Reports, 2018
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights ...
James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Andy G. Lynch   +3 more
doaj   +1 more source

Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases

, 2020
A rare disease is generally defined as a condition which affects about 1 among 2000 people and currently, there are approximately 5000–8000 rare diseases (RDs) affecting over 400 million people world-wide.
Ishengoma, Deus, Maeda, Daniel, Mavura, Togolani, Mbwanji, Kenneth, David, Aneth, Mbarak, Sharifa, Alimohamed, Mohamed, Kaywanga, Frida, Nkya, Siana   +8 more
core   +1 more source

Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions

罕见病研究
Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj   +1 more source

Whipple's disease with constrictive pericarditis: A rare disease with a rare presentation [PDF]

Canadian Journal of Cardiology, 2009
Whipple's disease is a multisystem disease that can affect the heart with predominantly endocardial and pericardial involvement and, less often, myocardial inflammation. Previously diagnosed at autopsy, cardiac involvement in Whipple's disease is being recognized clinically more often. A 58-year-old man with Whipple's-related constrictive pericarditis,
T, Iqbal, A, Karovitch, J, Veinot, R, Saginur, L, Beauchesne   +4 more
openaire   +2 more sources

Infant Embryonal CNS Tumors: Molecular Insights and Treatment Considerations for Contemporary Pediatric Neuro‐Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan, Mariah Wright‐Nadkarni, Mohamed S. Abdelbaki, Girish Dhall   +3 more
wiley   +1 more source

A rare disease.

Critical care (London, England), 2007
Thrombocytopenia is a common finding in critically ill patients. Heparin-induced thrombocytopenia is an infrequent cause of a low platelet count. Intensivists should use the diagnostic classification system developed by the International Society on Thrombosis and Haemostasis to diagnose heparin-induced thrombocytopenia.
openaire   +2 more sources