Results 51 to 60 of about 4,732,768 (313)
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 +2 more
doaj +1 more source
IntroducingRare Diseases [PDF]
Rare Diseases, 2013 We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing high-quality research that addresses the many aspects related to rare diseases. Rare Diseases will cover a range of topics including the studies of disease-related proteins, the analyses of rare disease mutations, gene expression studies, genotype-phenotype ...
Szajner, Patricia, Yusufzai, Timur
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Numerous international studies have reported declines in new cancer diagnoses, delayed diagnoses and disruptions in cancer treatment following the implementation of COVID‐19 pandemic public health measures, raising concerns that these effects may ultimately contribute to increased cancer mortality.
Friederike Erdmann +8 more
wiley +1 more source
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 +3 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko +5 more
wiley +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
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.
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The Challenge of Rare Diseases [PDF]
Chest, 2018 Rare diseases pose particular challenges to patients who are affected, to the clinicians who care for them, and to the investigators who study their conditions. Although individually uncommon, rare diseases are common in the aggregate, with approximately 7,000 described rare diseases affecting 25 to 30 million US adults.
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Graft‐versus‐host disease (GvHD) remains one of the most significant complications of hematopoietic stem cell transplantation (HSCT). Abatacept, a selective T‐cell costimulation modulator, is a relatively novel prophylactic agent, though pediatric data remain limited.
Matthijs D. Kruizinga +3 more
wiley +1 more source
Collecting rare diseases [PDF]
F1000Research, 2014 This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
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