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Results 141 to 150 of about 436,052 (294)

Pathogenic PF4/Polyanion ELISA‐Negative Antibodies in HIT

American Journal of Hematology, EarlyView.
ABSTRACT Background Platelet factor 4‐polyanion enzyme‐linked immunosorbent assays (ELISAs) are considered highly sensitive for diagnosing heparin‐induced thrombocytopenia (HIT), such that current practice guidelines recommend use of ELISA‐negative results to exclude HIT.
Adam J. Kanack +25 more
wiley +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source

Case Report: Multimodality evaluation and clinical management of a single coronary artery. [PDF]

Front Cardiovasc Med, 2023
McAlpin P +4 more
europepmc +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source

A Single Coronary Artery From the Left Coronary Sinus: The Continuing Conundrum. [PDF]

Cureus, 2023
Mahanta D, Parhi DK, Gadade SV, Das D.
europepmc +1 more source

Harmonizing the paradigm with the data in stable coronary artery disease: A review and viewpoint [PDF]

, 2017
Brown, David L, Mitchell, Joshua D
core +2 more sources

Are There Causal Associations Between Obsessive‐Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi‐Directional Mendelian Randomization Study

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source

Quantitative proteomics identifies clusterin as a novel biomarker for atherosclerosis

Animal Models and Experimental Medicine, EarlyView.
This schematic illustrates the proposed mechanism. In advanced atherosclerotic lesions, upregulated CLU on the cell surface activates low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1). This interaction triggers the phosphorylation and activation of AKT.
Dengfeng Ding +10 more
wiley +1 more source

humans
coronary vessel anomalies
coronary angiography

male
3. good health
female

middle aged
coronary vessels
coronary artery disease