Results 91 to 100 of about 330,544 (344)

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

Untreated patient of Pentalogy of Cantrell surviving into the sixth decade: A unique case report

IHJ Cardiovascular Case Reports, 2018
Pentalogy of Cantrell is a rare syndrome consisting of a constellation of congenital anomalies including omphalocoele, lower sternal defect, sdiaphragmatic defect, diaphragmatic pericardial defect and congenital heart disease.
Neha Nischal, Sakshi Arya, Sunil Kumar Puri, Vijay Kumar Trehan   +3 more
doaj   +1 more source

Early diagnosis of cardiovascular diseases in workers: role of standard and advanced echocardiography [PDF]

, 2018
Cardiovascular disease (CVD) still remains the main cause of morbidity and mortality and consequently early diagnosis is of paramount importance. Working conditions can be regarded as an additional risk factor for CVD. Since different aspects of the job
Capotosto, Lidia, DE SIO, Simone, Massoni, Francesco, Ricci, Serafino, Vitarelli, Antonio   +4 more
core   +3 more sources

Congenital Heart Defects [PDF]

Circulation Research, 2000
More children die from congenital heart disease (CHD) each year than are diagnosed with cancer. Although CHD is the most common human birth defect, the etiology of the vast majority of CHDs remains unknown. The difficulty in elucidating the molecular and genetic bases for CHD reflects the complex nature of this and other birth defects.
openaire   +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

Left Ventricle Diverticulum with Partial Cantrell's Syndrome

Case Reports in Cardiology, 2012
Cantrell syndrome is a very rare congenital disease associating five features: a midline, upper abdominal wall disorder, lower sternal abnormality, anterior diaphragmatic defect, diaphragmatic pericardial abnormality, and congenital abnormalities of the ...
Mustapha El Kouache, S. Labib, A. El Madi, A. Babakhoya, S. Atmani, Y. Abouabdilah, M. Harandou   +6 more
doaj   +1 more source

Cardiac Biomarkers in Adult Congenital Heart Disease [PDF]

, 2015
__Abstract__ Congenital heart disease (ConHD) is the most common congenital abnormality in newborns, with a birth prevalence of 9 per 1000 live births.2 ConHD comprises a number of cardiac abnormalities with varying aetiology which can be divided ...
Eindhoven, J.A. (Jannet)
core   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

3D Hydrogel Cell Cultures and Their Biomedical Applications

Advanced NanoBiomed Research, EarlyView.
The review highlights the advantages of hydrogel‐based 3D cell cultures over traditional 2D models. These hydrogels closely mimic natural cellular environments, improving research in tissue engineering, drug discovery, cancer studies, and neuroscience.
Tri Lan Thai, Arushi Manchanda, Sarah L. Higginbottom, Estrella Sanz Rodriguez, Richard Wilson, Eva Tomaskovic‐Crook, Jeremy M. Crook, Brett Paull   +7 more
wiley   +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