Results 131 to 140 of about 345,553 (334)

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

Metabolic alterations in human pulmonary artery smooth muscle cells treated with PDGF‐BB

Animal Models and Experimental Medicine, EarlyView.
Metabolic abnormalities are considered to play a key regulatory role in vascular remodeling of pulmonary arterial hypertension. We analyzed the metabolome in the culture supernatants of human pulmonary artery smooth muscle cells (PASMC) during the malignant proliferation phenotype transition via a targeted metabolomics method. Significant and extensive
Meng‐Jie Zhang, Jie‐Jian Kou, Hong‐Da Zhang, Xin‐Mei Xie, Yun‐Feng Zhou, Ping Yuan, Xiao‐Bin Pang, Lu‐Ling Zhao, Jing Qiu, Yang‐Yang He   +9 more
wiley   +1 more source

Procollagen IIA Deficient Mice [PDF]

, 2010
This invention relates to the production of dual models of Congenital Heart Defects and Hypertrophic Cardiomyopathy with the use of mice which are genetically modified by transgenic (gene-knockout) techniques. The present invention produces knockout mice

core  

Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

Seminars in Perinatology, 2015
In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely.
R. Olney, E. Ailes, M. Sontag
semanticscholar   +1 more source

The tacrolimus concentration‐to‐dose ratio is associated with kidney function in heart transplant recipients

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Heart transplantation (HT) is frequently complicated by chronic kidney disease, of which tacrolimus‐related nephrotoxicity is an important cause. In kidney and liver transplant recipients, fast tacrolimus metabolism (defined as a low concentration‐to‐dose [C0/D] ratio), negatively affects kidney function.
Maaike R. Schagen, Teun B. Petersen, Boris C. A. Seijkens, Jasper J. Brugts, Kadir Caliskan, Alina A. Constantinescu, Brenda C. M. de Winter, Isabella Kardys, Dennis A. Hesselink, Olivier Manintveld   +9 more
wiley   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
core  

Prenatal Alcohol Exposure and Congenital Heart Defects: A Meta-Analysis

PLoS ONE, 2015
Background There are still inconsistent conclusions about the association of prenatal alcohol drinking with congenital heart defects (CHDs). We conducted this meta-analysis to investigate the association between prenatal alcohol exposure and the risk of ...
Jiaomei Yang, Hui-qi Qiu, P. Qu, Ruo Zhang, L. Zeng, Hong Yan   +5 more
semanticscholar   +1 more source