Results 21 to 30 of about 2,361 (168)

A proposed method to visualize the ductus arteriosus on transesophageal echocardiography

Annals of Cardiac Anaesthesia, 2014
The ductus arteriosus occupies a uniquely privileged position in the management of heart disease; it initiated not only the surgical management of congenital lesions but also the percutaneous management of this subset.
Raviraj Gogia, Bhupesh Kumar, Aveek Jayant   +2 more
doaj   +1 more source

Patent ductus arteriosus: peculiarities of early neonatal, postnatal diagnostics, clinical manifestations, treatment and prognosis

Zdorovʹe Rebenka, 2017
The article presents the published data on the prevalence, the main clinical manifestations, and modern methods of early neonatal and postnatal diagnosis, treatment and prognosis of patent ductus arteriosus — the congenital malformation of cardiovascular
K.A. Kalashnikova, N.O. Nikitina
doaj   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

DEVICE CLOSURE OF LARGE PDA WITHOUT ARTERIAL PUNCTURE IN 40 DAYS OLD INFANT FAILING TO THRIVE

Pakistan Armed Forces Medical Journal, 2021
Patent ductus arteriosus (PDA) is one of the common cardiac lesion present at birth. This communication is essential in fetal life and closes at birth with few exceptions which result in.
Amjad Mahmood, Khurram Akhtar, Hina Waheed, Nadeem Sadiq, Mahmood Sultan, Andaleeb Ara, Hajira Akbar, Sana Imtiaz   +7 more
doaj   +2 more sources

Pericardial cyst in a one-year-old boy with ventricular septal defect and patent ductus arteriosus

The Egyptian Heart Journal, 2022
Background Pericardial cysts are rare, with the most common etiology being congenital. Ventricular septal defect is the most common congenital heart disease in children.
Nirmal Panthee, Sidhartha Pradhan, Raamesh Koirala, Anil Dev Pant, Bishow Pokhrel, Subhash Chandra Shah, Rabindra Bhakta Timala   +6 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Different transcatheter strategies for aortic coarctation associated with patent ductus arteriosus

Indian Heart Journal, 2012
Background: Older patients with combination of aortic coarctation and large patent ductus arteriosus can be managed with transcatheter interventions. The strategies depend on anatomy of coarctation and size of ductus arteriosus. Methods: We present three
Anil Kumar Singhi, Kothandam Sivakumar
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

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

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