Comparison of liver MRI R2(FerriScan ®) VS liver MRI T2* as a measure of body iron load in a cohort of beta thalassaemia major patients

To compare the similarity of the non-patented T2* and the high cost patented R2 (Ferriscan ®) MRI techniques in the measurement of liver iron concentration (LIC) in heavily transfused patients with thalassaemia...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research

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CONCLUSIONS: The clinical features and angiographic type of TA in Iran are different from most Asian countries. Differences in angiographic and clinical features may lead to delayed diagnosis. The issue of delay in diagnosis should create awareness among health care providers that TA is not a very rare disease in Iranians and failure to pay attention to warning symptoms may delay the diagnosis. PMID: 32093440 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Publication date: March 2020Source: The Lancet Haematology, Volume 7, Issue 3Author(s): The Lancet Haematology
Source: The Lancet Haematology - Category: Hematology Source Type: research
In this free webinar, the featured speaker, Dr. William C Maier, Chief Scientific Officer and Head of Rare Disease Research, Commercialisation and Outcomes Services at ICON, will provide an overview...(PRWeb February 27, 2020)Read the full story at https://www.prweb.com/releases/using_historical_controls_in_rare_disease_clinical_trials_challenges_and_opportunities_upcoming_webinar_hosted_by_xtalks/prweb16940136.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news
ConclusionsAlthough uncommon, these urological infections are associated with significant morbidity and mortality and awareness in all healthcare settings is now an essential requirement.
Source: World Journal of Urology - Category: Urology & Nephrology Source Type: research
Publication date: Available online 26 February 2020Source: Urology Case ReportsAuthor(s): Erdem Aktas, Murat Ucar, Bahar Akkaya, Erol Guntekin, Orkun Batmaz
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
(University of Barcelona) A research team has described five new cases of a rare disease -- known as KAT6A syndrome -- of which there are only eighty dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine acetyltransferase 6A gene (KAT6A), involves intellectual disability, language impairment, low muscle tone, cardiovascular malformation and eye defects, among other affectations.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
In this free webinar, Medpace’s global regulatory experts will discuss some of the key considerations for accelerating development in rare disease clinical research.(PRWeb February 26, 2020)Read the full story at https://www.prweb.com/releases/part_2_rare_disease_clinical_research_a_deep_dive_into_regulatory_strategies_considerations_upcoming_webinar_hosted_by_xtalks/prweb16936161.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news
Calcific Uremic Arteriolopathy (CUA) is a rare disease, causing painful skin ulcers in patients with end stage renal disease. Recommendations for CUA management and treatment are lacking.
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Research article Source Type: research
Department of Health and Social Care -This paper contains a summary of the strategy's progress and actions for the government and partner organisations for 2020. It covers five main areas: empowering those affected by rare diseases; identifying and preventing rare diseases; diagnosis and early intervention; coordination of care; and the role of research.Policy paperDepartment of Health and Social Care - publications
Source: Health Management Specialist Library - Category: UK Health Authors: Tags: Local authorities, public health and health inequalities Source Type: blogs
Promise made in 2018 in strategy for rare diseases, thought to affect 3.5 million people in UK Related items fromOnMedica Type 2 diabetes in 10 times more young people than realised 100,000 people in NI wait over a year for hospital treatment 40% of hospital patients receive no visitors It ’s time to let young people customise healthcare! Hospital transport service fails kidney patients
Source: OnMedica Latest News - Category: UK Health Source Type: news
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