Results 91 to 100 of about 421,652 (362)

Peri-operative Anesthetic Innovations During Pediatric Cardiac Surgery [PDF]

open access: yes, 2011
Congenital heart disease (CHD) refers to a series of birth defects that aff ect the heart and thoracic vessels, aff ecting 6 to 8 out of 1,000 babies being born.
Scohy, T.V. (Thierry)
core   +1 more source

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit. [PDF]

open access: yes, 2017
ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of ...
Allen, D   +20 more
core   +2 more sources

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Changes in waiting time, need for mechanical circulatory support and outcomes in paediatric heart transplant recipients

open access: yesESC Heart Failure
Aims Heart transplantation is a well‐established treatment for end‐stage heart failure in paediatric patients, demonstrating excellent long‐term outcomes. Methods This retrospective study analyses 35 years of data on 244 paediatric recipients (
Lisa‐Maria Rosenthal   +8 more
doaj   +1 more source

Successful heart transplantation in a patient with Ivemark syndrome combined with situs inversus, single atrium and ventricle after total cavo-pulmonary connection [PDF]

open access: yes, 2017
Heart transplantation represents a valuable therapeutical option for patients with congenital heart disease and end-stage heart failure. We report the case of a young adult patient with a situs inversus and additional complex congenital malformations of ...
Althaus, Ulrich   +3 more
core  

Detection rates of congenital heart disease in Guatemala [PDF]

open access: yes, 2010
ObjectivesIn developing countries, congenital heart disease is often unrecognised, leading to serious morbidity and mortality. Guatemala is one of the few developing countries where expert paediatric cardiac treatment is available and affordable, and ...
Barnoya, Joaquin   +4 more
core   +2 more sources

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Age- and Lesion-Related Comorbidity Burden Among US Adults With Congenital Heart Disease: A Population-Based Study. [PDF]

open access: yes, 2019
Background As patients with congenital heart disease (CHD) are living longer, understanding the comorbidities they develop as they age is increasingly important.
Agarwal, Anushree   +9 more
core   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips   +8 more
wiley   +1 more source

The views of parents concerning the planning of services for rehabilitation of families of children with congenital cardiac disease [PDF]

open access: yes, 2003
Background and purpose: Although much previous research has focused on the medical aspects of congenital cardiac disease, there is a growing body of research which suggests that families may need help and support with the wider issues associated with the
Kendall, L   +3 more
core   +1 more source

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