Results 51 to 60 of about 149 (144)

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 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

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

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Expert Perspectives on a Clinical Challenge: Hematologic Malignancies and Vasculitis

Arthritis &Rheumatology, Accepted Article.
Systemic vasculitis describes a collection of rare diseases each caused by inflammation of blood vessel walls that can cause severe systemic complications [[3, 4]](#ref‐0003). The pattern of vascular inflammation and resultant damage is frequently variable and may be mimicked, or directly triggered, by infection or malignancy.
Michelle L. Robinette, Hetty E. Carraway
wiley   +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

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Three‐dimensional assessment of subchondral arc and hip joint coverage angles in the asymptomatic young adult hip

Clinical Anatomy, EarlyView.
Abstract The primary objective of this study was to develop a custom algorithm to assess three‐dimensional (3D) acetabular coverage of the femoral head based on surface models generated from computed tomography (CT) imaging. The secondary objective was to apply this algorithm to asymptomatic young adult hip joints to assess the regional 3D acetabular ...
Holly D. Aitken, Jessica E. Goetz, Wyatt M. Sailer, Dominic J. L. Rivas, Christine L. Farnsworth, Vidyadhar V. Upasani, Joshua B. Holt   +6 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source