Publications by authors named "M Y Henein"
Background: Primary ciliopathies are a heterogeneous group of rare disorders predominantly caused by autosomal-recessive genetic variants that disrupt non-motile ciliary function. They often manifest as a syndromic phenotype, frequently involving the kidney. Biallelic pathogenic variants in C2CD3 disrupt ciliogenesis and Sonic Hedgehog (SHH) signaling, resulting in a severe ciliopathy (Orofaciodigital syndrome XIV, OMIM 615948).
View Article and Find Full Text PDFBackground And Aim: Cardiovascular disease progresses after menopause. Conventional risk factors, particularly diabetes, for atherosclerosis are well-established predictors of phenotypic arterial disease. The aim of this study is to assess the predictors of subclinical atherosclerosis in asymptomatic non-diabetic postmenopausal women.
View Article and Find Full Text PDFDoppler echocardiography is the corner-stone of non-invasive investigation of patients with a clinical diagnosis of heart failure. It provides an accurate and quantitative assessment of cardiac structure and function. Furthermore, spectral Doppler measurement is an invaluable technique for estimating intracardiac pressures with their crucial value in the optimum management of heart failure patients, irrespective of ejection fraction.
View Article and Find Full Text PDFEchocardiographic red flags of ATTR cardiomyopathy a single centre validation.
Eur Heart J Imaging Methods Pract
July 2024
Aims: Echocardiography plays an important role in suspecting the presence of transthyretin cardiomyopathy (ATTR-CM) in patients with heart failure, based on parameters proposed as 'red flags' for the diagnosis of ATTR-CM. We aimed to validate those measurements in a group of patients with ATTR-CM including ATTRv and ATTRwt.
Methods And Results: We tested a number of echocardiographic red flags in 118 patients with confirmed diagnosis of ATTR-CM.
Article Synopsis
- The study focuses on missense variants in the PKHD1 gene, which are linked to varying severity of autosomal recessive polycystic kidney disease (ARPKD), highlighting how different genetic expressions can lead to diverse health outcomes in individuals.
- It presents a case of two adult siblings who share biallelic missense variants but exhibit significantly different health experiences: one suffers from severe kidney complications and requires transplants, while the other maintains nearly normal kidney function into middle age.
- The findings emphasize that specific genetic compositions, particularly those involving hypomorphic variants, may contribute to the inconsistent presentation of symptoms, or "phenotypic discordance," even among siblings.