Mosaic trisomy 22 in a 4 ‐year‐old boy with congenital heart disease and general hypotrophy: A case report

Journal of Clinical Laboratory Analysis, EarlyView.
Source: Journal of Clinical Laboratory Analysis - Category: Laboratory Medicine Authors: Source Type: research

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Publication date: Available online 21 May 2019Source: Molecular Genetics and MetabolismAuthor(s): Alina Kurolap, Mireia del Toro, Ronen Spiegel, Ariel Gutstein, Gideon Shafir, Ian J. Cohen, José A. Barrabés, Hagit Baris FeldmanAbstractGaucher disease (GD) is the most prevalent lysosomal disorder caused by GBA mutations and abnormal glucocerebrosidase function, leading to glucocerebrosideaccumulation mainly in the liver, spleen, bone marrow, lungs, and occasionally in the central nervous system. Gaucher disease type 3c (GD3c) is a rare subtype of the subacute/chronic neuronopathic GD3, caused by homozygosity f...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Condition:   Ischemic Heart Disease Chronic Intervention:   Behavioral: Virtual Communities of practice Sponsor:   Gerencia de Atención Primaria, Madrid Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
This study aimed to assess the value of CGM in diagnosing CAD in patients with suspected stable ischemic heart disease (SIHD).This was a systematic review and meta-analysis conducted on available literature until May 2018. Studies considered coronary angiography as the reference standard for CAD diagnosis and reported CGM diagnostic value parameters were included. No language and time restrictions for enrolling the studies were considered. Statistical analysis was performed using Meta-DiSc software.The findings of the 10 studies published in 9 articles were enrolled in the meta-analysis. Overall pooled sensitivity was 71.7...
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research
Authors: Ren X, Li F, Wang C, Hou Z, Gao Y, Yin W, Lu B Abstract Bicuspid aortic valve (BAV) is the most common congenital heart disease. Different distribution of valve dysfunction was found in patients with BAV in different age and sex groups, but related difference was not well established. The aim of our study is to investigate age- and sex-related clinical characteristics differences in patients with BAV.Six hundred twenty patients with BAV who had moderate or severe aortic valve dysfunction were included in the study. Basic clinical data and image data were recorded. Patients were classified into four differe...
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research
HOW TO get rid of visceral fat: A diet high in sugar and fat can lead to a build-up of visceral fat, increasing the risk of serious health problems such as type 2 diabetes and heart disease. But there are certain other foods you can be eating instead to reduce this type of body fat.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
PARIS, May 22, 2019 -- (Healthcare Sales &Marketing Network) -- Edwards Lifesciences Corporation (NYSE: EW), the global leader in patient-focused innovations for structural heart disease and critical care monitoring, announced strategic clinical and regu... Devices, Cardiology, Interventional Edwards Lifesciences, PASCAL , transcatheter valve
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
Publication date: July 2019Source: American Heart Journal, Volume 213Author(s): Paul A. Decker, Nicholas B. Larson, Elizabeth J. Bell, James S. Pankow, Naomi Q. Hanson, Christina L. Wassel, Michael Y. Tsai, Suzette J. BielinskiHepatocyte growth factor (HGF) is associated with subclinical and clinical atherosclerosis. However, the significance of change in HGF and development of atherosclerotic disease is unknown. In a large and diverse population-based cohort, we report that change in the biomarker HGF is an independent predictor of incident CHD.
Source: American Heart Journal - Category: Cardiology Source Type: research
Publication date: Available online 22 May 2019Source: American Heart JournalAuthor(s): Alexander R. Opotowsky, Matthew Carazo, Michael N. Singh, Konstantinos Dimopoulos, David A. Cardona-Estrada, Ahmed Elantably, Sushrut S. Waikar, Finnian R. Mc Causland, Gruschen Veldtman, Jasmine Grewal, Catherine Gray, Brittani N. Loukas, Saurabh RajpalAbstractBackgroundGlomerular filtration rate is a key physiologic variable with a central role in clinical decision-making and a strong association with prognosis in diverse populations. Reduced estimated glomerular filtration rate (eGFR) is common among adults with congenital heart disea...
Source: American Heart Journal - Category: Cardiology Source Type: research
As the number of American adults dying of cancer continues to decline, the number who are dying of heart disease is on the rise, according to a new report.
Source: CNN.com - Health - Category: Consumer Health News Source Type: news
  So you kiss all things wheat and grains goodbye. And you’ve come to learn that gluten-free foods made with replacement flours like cornstarch, tapioca starch, potato flour, and rice starch are incredibly unhealthy, since they make visceral fat grow, send blood sugar through the roof, and contribute to diabetes, hypertension, heart disease, cancer, and dementia. But perhaps you’d sure like a few muffins or cookies once in a while . . . without paying the health price that follows wheat and grain consumption such as high blood sugar, insulin resistance, type 2 diabetes, autoimmune conditions, acid reflux,...
Source: Wheat Belly Blog - Category: Cardiology Authors: Tags: News & Updates gluten-free grain-free low-carb wheat belly Source Type: blogs
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