Results 81 to 90 of about 6,519,330 (307)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Home-based interval training increases endurance capacity in adults with complex congenital heart disease

, 2017
Objective: The beneficial effects of exercise training in acquired heart failure and coronary artery disease are well known and have been implemented in current treatment guidelines.
Öhrn, Amanda, Sandberg, C., Anders Ahnfelt, Sandberg, Camilla,, Wadell, K., Bengt Johansson, Johansson, B., Hedström, Magnus,, Magnus Hedström, Wadell, Karin,, Johansson, Bengt,, Ahnfelt, Anders, Hedstrom, M., Ahnfelt, Anders,, Mikael Dellborg, Zetterström, Anna-Klara, Karin Wadell, Amanda Öhrn, Dellborg, Mikael, Ohrn, A., Zetterstrom, A. K., Camilla Sandberg, Dellborg, Mikael,, Anna-Klara Zetterström   +23 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

Descending aorta to right atrial fistula: Transcatheter embolization of a very rare anomaly with coils

Clinical Case Reports
Key Clinical Message Descending aorta to right atrial (RA) fistula is a rare and distinct clinical entity mimicking patent ductus arteriosus (PDA) and it may lead to rapid development of pulmonary vascular disease.
Stefanos Despotopoulos, Sotiria Apostolopoulou, George Vagenakis, Meletios Kanakis, George Samanidis, Panagiotis Zachos, Anastasios Chatziantoniou, John Papagiannis, Spyridon Rammos, Alexandros Tsoutsinos   +9 more
doaj   +1 more source

Life Experiences and Coping Strategies in Adults with Congenital Heart Disease

La Pediatria Medica e Chirurgica, 2013
Many adults with congenital heart disease (ACHD) have to face considerable psychosocial difficulties. The aim of this study was to explore the life experiences of ACHD patients, from when they become aware of having a condition, till after the open heart
E. Callus, E. Quadri, A. Compare, A. Tovo, A. Giamberti, M. Chessa   +5 more
doaj   +1 more source

Style of Coping and its Determinants in Adults with Congenital Heart Disease in a Developing Country

, 2014
Objective The objective of this study is to compare coping strategies between adults with and without congenital heart disease and to scrutinize the associations between different available resources (e.g., social support) and adoption of certain coping ...
Soares, Joaquim J. F.,, Macassa, Gloria,, Eslami, Bahareh,, Soares, Joaquim,, Khankeh, HR,, Khankeh, Hamid Reza,, Sundin, Örjan,   +6 more
core   +1 more source

Knowledge-based 3D reconstruction of the right ventricle : comparison with cardiac magnetic resonance in adults with congenital heart disease [PDF]

, 2015
AIM: Assessment of right ventricular (RV) function is a challenge, especially in patients with congenital heart disease (CHD). The aim of the present study is to assess whether knowledge-based RV reconstruction, used in the everyday practice of an echo ...
Sieswerda, Gertjan Tj,, Meijboom, Folkert, Meijboom, Folkert,, Wallby, Lars, Driessen, Mieke, Sieswerda, Gertjan Tj, Swahn, Eva,, Driessen, Mieke,, Trzebiatowska-Krzynska, Aleksandra, Sieswerda, GT, Swahn, Eva, Wallby, Lars,, Trzebiatowska-Krzynska, Aleksandra,   +12 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Accuracy of pulse oximetry screening for detecting critical congenital heart disease in the newborns in rural hospital of Central India [PDF]

, 2013
Congenital cardiovascular malformations are the most common category of birth defects and responsible for mortality in the first twelve months of life.
Taksande, Amar M., Suwarnakar, K., Gadekar, A., Japzape, T., Lakhkar, Bhawna   +4 more
core  

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