Results 61 to 70 of about 1,224,037 (184)

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

From multiple spleens to absence: Insights from two cases of heterotaxy syndromes

Radiology Case Reports
Heterotaxy syndrome is a rare congenital disorder characterized by abnormal arrangement of the thoracic and abdominal organs and is classified into polysplenia (left isomerism) and asplenia (right isomerism) syndromes.
Suman Paudel, MD, Rishi Ram Banjade, MBBS, Niraj Kumar Sharma, MD, Sharmila Ghimire, MD, Prerana Singh Rokaha, MBBS   +4 more
doaj   +1 more source

Structural Covariance Analysis of Altered Brain Development in Neonates With Congenital Heart Disease After Surgery

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Brain development is altered in neonates with congenital heart disease (CHD), with well‐characterised reductions in regional brain volumes and enlargement of CSF spaces. However, perioperative morphological changes remain incompletely understood. Purpose To identify brain regions showing spatial patterns of coordinated expansion and
Mirthe E. M. van der Meijden, Barat Gal‐Er, Benjamin Clayden, Siân Wilson, Daniel Cromb, Andrew T. M. Chew, Alexia Egloff, Kuberan Pushparajah, John Simpson, Joseph V. Hajnal, A. David Edwards, Mary Rutherford, Jonathan O'Muircheartaigh, Serena J. Counsell, Alexandra F. Bonthrone   +14 more
wiley   +1 more source

TRANSPOSITION OF GREAT ARTERIES: NEW INSIGHTS INTO THE PATHOGENESIS

Frontiers in Pediatrics, 2013
Transposition of great arteries (TGA) is one of the most common and severe congenital heart diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in phylogenetic and ontogenetic development, it does not represent an ...
Marta eUnolt, Carolina ePutotto, Lucia Martina Silvestri, Dario eMarino, Alessia eScarabotti, Valerio eMassaccesi, Angela eCaiaro, Paolo eVersacci, Bruno eMarino, Bruno eMarino   +9 more
doaj   +1 more source

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

Molecular Genetics & Genomic Medicine, 2020
Background Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco‐abdominal organs in the left‐right axis and is associated with cardiovascular malformations.
Amirpouyan Namavarian, Anas Eid, Elaine Suk‐Ying Goh, Varsha Thakur   +3 more
doaj   +1 more source

Quantitative Ultrasound Analysis of Muscle Reinnervation Following Anterior Interosseous Nerve‐To‐Ulnar Motor Branch Supercharged End‐To‐Side Transfer Surgery: A Preliminary Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Routine assessment of muscle reinnervation primarily relies on clinical and electromyographic evaluation. The aim of this preliminary study was to evaluate sensitivity of quantitative ultrasound analysis for monitoring intrinsic hand muscle recovery following anterior interosseous nerve (AIN)‐to‐ulnar motor branch ...
Rémy Liechti, Esther Vögelin
wiley   +1 more source

Improving results of the Fontan procedure in patients with heterotaxy syndrome

, 2006
BACKGROUND: The Fontan operation in patients with heterotaxy syndrome has been associated with a poor prognosis. We studied whether the outcome of those patients with heterotaxy syndrome improved compared with those who did not have the syndrome after an
Kim, Woong-Han, Kim, Soo-Jin, Lee, Jae Young, Lim, Hong Gook, Lee, Chang-Ha   +4 more
core   +1 more source

Beyond conventional anthropometry: Muscle‐related indicators and muscle strength in adults with congenital heart disease: A retrospective study with a comparison group

Nutrition in Clinical Practice, EarlyView.
Abstract Anthropometric characteristics and muscle strength remain insufficiently characterized in adults with congenital heart disease (CHD). The aim of the study was to characterize anthropometric indicators and muscle strength in hospitalized adults with CHD and examine differences according to cardiac lesion complexity. Exploratory comparisons with
Hyan Ribeiro Prudêncio de Sousa, Cláudia Porto Sabino Pinho   +1 more
wiley   +1 more source

A breviloquent description about the challenges involved and the management strategies for the complex cardiac abnormality — Ivemark syndrome

Journal of Rare Diseases
Ivemark syndrome, a classification of heterotaxy syndrome, is an extremely uncommon congenital condition. An aberrant configuration of the thoracoabdominal organs across the body’s left–right axis is known as heterotaxy, and it is always linked to either
Pooja C., Sankari A., Sashtipriyaa R., Mariyam Susan Joji, Sarumathy S.   +4 more
doaj   +1 more source

Molecular Genetic Analysis of \u3ci\u3eCRELD1\u3c/i\u3e in Patients with Heterotaxy Disorder [PDF]

, 2011
Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. Model organism studies have shown that functions of more than eighty genes are required for normal asymmetric left-right organ development.
Zhian, Samaneh
core   +1 more source