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Father who lived with rare disease for 40 years finally diagnosed after doctor see him tie his shoelaces

Butcher Ian Redfern was with his daughter Evie at The Children’s Hospital in Sheffield, for treatment for her condition Ehlers Danlos Syndrome, when he was diagnosed.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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This article guides usage of the MME for rare disease gene discovery. © 2017 by John Wiley &Sons, Inc. PMID: 29044468 [PubMed - in process]
Source: Current Protocols in Human Genetics - Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research
This study was conducted with qualitative methods and a participatory approach, engaging five participants with AD. Under seven weeks the participants photographed their everyday life and participated in weekly group-discussions. Preliminary results show that everyday life with AD can be more complex than previously thought and that extended information and self-management education about the disease and everyday life is perceived as important to maintain wellbeing. Also, participants perceived that health care could play a bigger role regarding health promotion and preventive actions through extended pharmacological and n...
Source: The European Journal of Public Health - Category: General Medicine Source Type: research
Source: The Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Source Type: research
Rare diseases (incidence
Source: The European Journal of Public Health - Category: General Medicine Source Type: research
Summary A disease risk index (DRI) has been defined for stratifying heterogeneous cohorts of patients undergoing allogeneic haematopoietic stem cell transplantation (HSCT). This index defines 4 distinct groups with different outcomes, dividing patients by disease type and status and considering cytogenetics for acute myeloid leukaemia and myelodysplastic syndromes (MDS). Recently, the DRI has been refined to include rare diseases and improve MDS stratification by blast percentage and response to prior therapy. Previous reports on DRI include only a small number of UCBT recipients. The current study aims to determine the ap...
Source: British Journal of Haematology - Category: Hematology Authors: Tags: Research Paper Source Type: research
Conclusions: This study represents an example of integration of registries operating in the field of rare diseases. Providing the accurate prevalence of rare CAs is a key point to improving surveillance, supporting public health policies, and planning healthcare.Public Health Genomics
Source: Public Health Genomics - Category: Genetics & Stem Cells Source Type: research
Cambridge, MA – September 25, 2017 -- Acer Therapeutics Inc., (Nasdaq: ACER), a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and ultra-rare diseases with critical unmet medical...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associat...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
More News: Children | Ehlers-Danlos Syndrome | Health | Hospitals | Rare Diseases