Results 61 to 70 of about 1,413,284 (292)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Pediatric Lupus Presenting as Pulmonary Hypertension, Myocarditis, and Massive Pericardial Effusion in an 11-Year-Old Girl: A Case Report and Literature Review

Frontiers in Pediatrics, 2022
Systemic lupus erythematosus (SLE) is an autoimmune disease that may cause vital organ damage. Although not rare for child-onset SLE to have cardiovascular or pulmonary involvement, myocarditis, and pulmonary hypertension are infrequent features and can ...
Yu-Jhen Chen, Ying-Jui Lin, Mindy Ming-Huey Guo   +2 more
doaj   +1 more source

Medical Therapy for Pediatric Pulmonary Arterial Hypertension [PDF]

The Journal of Pediatrics, 2010
Pulmonary arterial hypertension (PAH) is a life-threatening disease, the prognosis of which has changed dramatically in the past decade since the introduction of new therapeutic agents and the off-label application of adult pulmonary hypertension (PH)-specific therapies to children.1–3 However, PAH still has no cure, and the aim of treatment is to ...
Tissot, Cecile, Ivy, David Dunbar, Beghetti, Maurice   +2 more
openaire   +3 more sources

Tadalafil in patients with chronic obstructive pulmonary disease:a randomised, double-blind, parallel-group, placebo-controlled trial [PDF]

, 2014
Background: Phosphodiesterase-5 (PDE5) inhibitors improve exercise capacity and quality of life in patients with idiopathic pulmonary arterial hypertension.
Lipworth, Brian J., Hopkinson, Pippa J, Struthers, Allan D., Goudie, Andrew R, Hopkinson, Pippa J., Lipworth, Brian J, Goudie, Andrew R., Wei, Li, Struthers, Allan D   +8 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

PULMONARY HYPERTENSION IN PEDIATRIC PRACTICE

Кубанский научный медицинский вестник, 2018
Aim. The study was designed to review the Russian and foreign literature of recent years on modern methods of diagnosis and management of children with pulmonary hypertension.Materials and methods.
V. E. Tril, A. V. Burlutsky
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

The Role of Early Child Nutrition in Pulmonary Hypertension—A Narrative Review

Children
Pulmonary hypertension is a complex condition that has distinct characteristics in pediatric populations. This review explores the important role of early childhood nutrition in the growth, progression, and management of pediatric pulmonary hypertension.
Alina-Costina Luca, Cristina Stoica, Cosmin Diaconescu, Elena Țarcă, Solange Tamara Roșu, Lăcrămioara Ionela Butnariu, Bogdan Aurelian Stana, Bogdan Gafton, Antoanela Curici, Eduard Vasile Roșu, Dana Elena Mîndru   +10 more
doaj   +1 more source