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Condition: Rare Diseases
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Total 294 results found since Jan 2013.
Hereditary thrombotic thrombocytopenic purpura and COVID-19: Impacts of vaccination and infection in this rare disease
DISCUSSION: The risk of an acute episode triggered by COVID-19 seems higher than following vaccination in hTTP patients, who can be safely vaccinated against SARS-CoV-2.PMID:36284639 | PMC:PMC9585384 | DOI:10.1002/rth2.12814
Source: Thrombosis and Haemostasis - October 26, 2022 Category: Hematology Authors: Erika Tarasco Anne Sophie von Krogh Radomira Hrdlickova Thomas R Braschler Teresa Iwaniec Paul N Kn öbl Eriko Hamada Oleg Pikovsky Stefan Farese Odit Gutwein Petr Kessler Nina H Schultz Charis von Auer Jerzy Windyga Kenneth Friedman Ingrid Hrachovinova J Source Type: research
Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia
Vascular malformations in hereditary hemorrhagic telangiectasia (HHT) lead to chronic recurrent bleeding, hemorrhage, stroke, heart failure, and liver disease. There is great interest in identifying novel ther...
Source: Orphanet Journal of Rare Diseases - November 7, 2022 Category: Internal Medicine Authors: K. P. Thompson, J. Sykes, P. Chandakkar, P. Marambaud, N. T. Vozoris, D. A. Marchuk and M. E. Faughnan Tags: Research Source Type: research
What It ’s Like to Live With Stiff Person Syndrome
twIn an emotional social-media video posted Dec. 8, singer Celine Dion informed fans that she has been diagnosed with a rare neurological disease called stiff person syndrome. A diagnosis wasn’t easy or straightforward. “I’ve been dealing with problems with my health for a long time…we now know this is what’s been causing all of the spasms that I’ve been having,” said Dion, who is 54.
Here’s what to know about the condition and what it feels like.
What is stiff person syndrome?
According to the National Institute of Neurological Disorders and Stroke, stiff person syndrome has...
Source: TIME: Health - December 9, 2022 Category: Consumer Health News Authors: Alice Park Tags: Uncategorized Disease healthscienceclimate Source Type: news
A view of care pathways approved by Italian Regions, to face the challenge of the community-based healthcare: a quali-quantitative analysis of the Pdta Net database.
CONCLUSIONS: The high number of CPs approved in Italy confirms an increasing interest of the healthcare institutions. The collected CPs show an extreme variety of titles, text structures and disease choices. Given the absence of an institutional observatory and of devotees of shared and harmonized CPs, annually Pdta Net makes available an updated and complete overview of these governance tools, which are essential for the upcoming changes of the Italian national health service.PMID:36573531 | DOI:10.1701/3939.39228
Source: Cancer Control - December 27, 2022 Category: Cancer & Oncology Authors: Irene Dell'Anno Silvia Calabria Letizia Dondi Giulia Ronconi Leonardo Dondi Alice Addesi Antonella Pedrini Immacolata Esposito Aldo Pietro Maggioni Nello Martini Carlo Piccinni Source Type: research
Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
J Clin Neurol. 2023 Jan;19(1):12-27. doi: 10.3988/jcn.2023.19.1.12.ABSTRACTCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic disorder of the cerebral small blood vessels. It is caused by mutations in the NOTCH3 gene on chromosome 19, and more than 280 distinct pathogenic mutations have been reported to date. CADASIL was once considered a very rare disease with an estimated prevalence of 1.3-4.1 per 100,000 adults. However, recent large-scale genomic studies have revealed a high prevalence of pathogenic NOTCH3 variants among the general populati...
Source: Journal of Clinical Neurology - January 6, 2023 Category: Neurology Authors: Yumi Yamamoto Yi-Chu Liao Yi-Chung Lee Masafumi Ihara Jay Chol Choi Source Type: research
Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy
J Clin Med Res. 2023 Feb;15(2):76-83. doi: 10.14740/jocmr4843. Epub 2023 Feb 28.ABSTRACTClassical homocystinuria is a hereditary defect of the enzyme cystathionine beta synthase, which is produced in the liver. If this enzyme fails, the synthesis pathway of cysteine from methionine is interrupted, leading to the accumulation of homocysteine in the blood plasma and homocysteine in the urine. After birth, the children are unremarkable except for the characteristic laboratory findings. Symptoms rarely appear before the second year of life. The most common symptom is a prolapse of the crystalline lens. This finding is seen in ...
Source: Clin Med Res - March 10, 2023 Category: Research Authors: Stefan Bittmann Gloria Villalon Elena Moschuring-Alieva Elisabeth Luchter Lara Bittmann Source Type: research
