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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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Faster access to medicines for rare diseases across Europe will help reinforce European competitiveness in the global medicines marketplace, a rare disease patient organisation has said
Source: The Pharmaceutical Journal - Category: Drugs & Pharmacology Source Type: research
We report the case of a 4-year-old boy with Ehlers-Danlos syndrome undergoing single-ventricle palliation for an unbalanced atrioventricular canal defect. No reports of single-ventricle palliation in the setting of connective tissue disorders exist in the current literature. Unique findings on the patient's preoperative imaging included a disproportionately large neoaortic root and a regurgitant atrioventricular valve, which may foretell the need for future intervention. PMID: 29233360 [PubMed - in process]
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: Ann Thorac Surg Source Type: research
Conclusion: At FAF, longitudinal follow-up of PPACD showed progression of the paravascular atrophy of the pigment epithelium. Foveal cone photoreceptors can be reduced even in the presence of preserved visual acuity.
Source: Retinal Cases and Brief Reports - Category: Opthalmology Tags: Brief report Source Type: research
Conclusion: Vigilance regarding biopsy and intervention for penile nodules may lead to early diagnosis and improved clinical outcomes. PMID: 29230132 [PubMed]
Source: Ochsner Journal - Category: General Medicine Tags: Ochsner J Source Type: research
Conclusion: Long-acting somatostatin analogues are effective in glycemic control of patients with CHI. However, in 37% of all patients increased liver enzymes were observed. It is important to monitor liver function in all patients receiving long-acting somatostatin analogue therapy.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
Conclusion Assessment of HR-DB, BP-ST and ESC, that is, rapid and non-invasive could be helpful in combination as a first simple screening to differentiate MSA-P from PD.
Source: Neurophysiologie Clinique - Category: Neuroscience 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