Results 61 to 70 of about 148,895 (244)

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

A Path to Implement Precision Child Health Cardiovascular Medicine. [PDF]

, 2017
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is
Brian Reemtsen, J. Paul Finn, Juan Alejos, Marlin Touma, Marlin Touma, Nancy Halnon, Stanley F. Nelson, Yibin Wang, Yibin Wang   +8 more
core   +2 more sources

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

Neighborhood social deprivation and healthcare utilization, disability, and comorbidities among young adults with congenital heart defects: Congenital heart survey to recognize outcomes, needs, and well-being 2016-2019. [PDF]

Birth Defects Res, 2023
Judge A, Kramer M, Downing KF, Andrews J, Oster ME, Benavides A, Nembhard WN, Farr SL.   +7 more
europepmc   +1 more source

Exposure to pseudoephedrine during pregnancy and major congenital malformations: Findings from a large population‐based cohort of pregnancies

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims The aim of this study was to assess the risk of major congenital malformations following first‐trimester pseudoephedrine (PSE) exposure. Methods A population‐based observational cohort study was conducted on pregnancies of women aged 15–49 years, insured by Clalit Health Services in southern Israel, who gave birth or had elective ...
Saar Dor, Tal Michael, Yael Levi, Gali Pariente, Eitan Lunenfeld, Amalia Levy, Shira Birenstock‐Cohen, Sharon Daniel   +7 more
wiley   +1 more source

Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being 2016-2019. [PDF]

J Am Heart Assoc, 2021
Downing KF, Oster ME, Klewer SE, Rose CE, Nembhard WN, Andrews JG, Farr SL.   +6 more
europepmc   +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

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

An open‐label, single‐arm, multicenter, phase II trial of bireociclib as monotherapy for heavily pretreated HR‐positive, HER2‐negative advanced breast cancer patients: BRIGHT‐1 trial

Cancer Communications, EarlyView.
Abstract Background Bireociclib (XZP‐3287) is a novel selective cyclin‐dependent kinase 4 and 6 (CDK4/6) inhibitor, with a favorable safety profile demonstrated in preclinical and phase I studies. BRIGHT‐1 aimed to further explore the efficacy and safety of bireociclib monotherapy in patients with locally advanced, recurrent or metastatic, hormone ...
Jiayu Wang, Qingyuan Zhang, Tao Sun, Huiping Li, Ying Cheng, Zhongsheng Tong, Huihui Li, Wei Li, Jingfen Wang, Yuee Teng, Xinhong Wu, Jing Cheng, Zhendong Chen, Zhengqiu Zhu, Li Wang, Mingming Liu, Xianghui Duan, Lingmei Xu, Binghe Xu   +18 more
wiley   +1 more source