Results 61 to 70 of about 80,449 (358)

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

ARRHYTHMOGENIC CARDIOMYOPATHY OF THE RIGHT VENTRICLE COMORBID WITH HEMODYNAMICALLY SIGNIFICANT SECONDARY INTERATRIAL SEPTAL DEFECT

Российский кардиологический журнал, 2014
Congenital atrial septal defect (ASD) is a common heart defect. The subjects for differential diagnosis of atrial septal defect, also leading to morpho-functional disturbances in the right parts of the heart, must be either inherited or acquired diseases.
A. N. Shapieva, E. V. Zaklyazminskaya, Yu. V. Frolova, M. A. Nechaenko, A. G. Shestak, S. L. Dzemeshkevich   +5 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

The detailed profile of congenital heart diseases in 254 children with Down syndrome in Saudi Arabia

The Cardiothoracic Surgeon
Background Down syndrome is the most common chromosomal abnormality in humans. It is associated with several congenital anomalies, including a spectrum of congenital heart diseases.
Naif Alkhushi
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Heart sound diagnosis using nonlinear arx model / Noraishah Shamsuddin [PDF]

, 2012
This thesis presents a research work on a diagnosis system for heart sound based on nonlinear ARX (NARX) model. The system uses neural network for model estimation and classification of several heart diseases.
Shamsuddin, Noraishah
core  

Glucocorticoids for treating paediatric pulmonary hypertension: A novel use for a common medication [PDF]

, 2017
Laboratory investigations have shown the role of inflammation in the pathogenesis of pulmonary hypertension and improvement after anti-inflammatory drugs.
Aggarwal, Manish, Grady, Ronald M
core   +2 more sources

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Building Disease Detection Algorithms with Very Small Numbers of Positive Samples

, 2018
Although deep learning can provide promising results in medical image analysis, the lack of very large annotated datasets confines its full potential.
DJ Penny, HC Shin, L Fei-Fei, O Ronneberger, SM O’Leary, T Geva   +5 more
core   +1 more source

Early Neonatal and Postnatal Diagnostics, Clinical Manifestations, Treatment and Prognosis by Atrial Septal Defect

Zdorovʹe Rebenka, 2016
The article presents the published data on the pre­valence, the main clinical manifestations, modern methods of early neonatal and postnatal diagnosis, treatment and prognosis by atrial septal defect — the congenital malformation of cardiovascular system.
K.A. Kalashnikova, N.O. Nikitina
doaj   +1 more source