New study refines cancer risk assessment for Li-Fraumeni syndrome
People with the rare Li-Fraumeni syndrome (LFS) have a high risk of developing cancer. Almost all those affected will develop ...
Medical News Today19d
What to know about chronic fatigue syndrome
Chronic fatigue syndrome — also known as myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) OR systemic exertional intolerance disease (SEID)— is a serious, chronic illness that can ...
ahajournals.org19d
Growth Rate Assessed by Vascular Deformation Mapping Predicts Type B Aortic Dissection in Marfan Syndrome
Patients with Marfan syndrome (MFS) are at a high risk of type B aortic dissection (TBAD). Aortic growth and elongation have been suggested as risk factors for TBAD. Vascular deformation mapping is an ...
Medical Xpress20d
How the same mutations give rise to very different types of leukemia
Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment. However, even among patients with the same mutation, disease progression and ...
Indiatimes21d
What is the difference between registration and mutation of property?
Mutation is the process wherein the name of the property owner is changed in the government’s land revenue records. This ensures that the land records correctly reflect the name of the existing owner ...
Medscape23d
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T; Collod-Beroud G; Akiyama T; Abifadel M; Harada N; Morisaki T; Allard D; Varret M; Claustres M; Morisaki H; Ihara M; Kinoshita A; Yoshiura K; Junien C ...
The New York Times26d
Scientists Describe Rare Syndrome Following Covid Vaccinations
In a small study, patients with the syndrome were more likely to experience reactivation of Epstein-Barr virus and high levels of a coronavirus protein. By Apoorva Mandavilli The Covid-19 vaccines ...
Nature27d
Molecular glue unexpectedly mimics the effect of cancer mutations
These findings set the stage for the current studies, which provide the first molecular pictures of KBTBD4 targeting the CoREST complex through interactions induced by both cancer mutations and a ...
Frontiers2y
Unmasking of Brugada syndrome by lamotrigine in a patient with pre-existing epilepsy: A case report with review of the literature
Brugada syndrome is an inherited cardiac channelopathy arising from mutations in voltage-gated cardiac sodium channels. Idiopathic epilepsy portrays a coalescent underlying pathophysiological ...
Frontiers3y
Reversed Apico-Basal Myocardial Relaxation Sequence During Exercise in Long QT Syndrome Mutations Carriers With History of Previous Cardiac Events
Background: Recent echocardiography studies in inherited long QT syndrome (LQTS) have shown left ventricular ... sequence during exercise and their relationship to symptoms in LQTS mutation carriers.
Kilkenny People12y
Kilmacow and Mooncoin helping those with Marfan’s Syndrome
It was set up by family and friends of the McGrath family from Kilmacow who are directly affected by Marfan Syndrome. The Marfan’s Research Foundation was set up to raise funds for research on the ...