Results 51 to 60 of about 6,723 (177)
Recanalization of Thrombosed Atrial Flow Regulator in Failing Fontan: A Bridge to Transplant
ABSTRACT We report the case of a 10‐year‐old boy (41 kg, 133 cm) with hypoplastic left heart syndrome (mitral and aortic atresia), who underwent staged palliation: Norwood‐Sano at 6 days, Glenn at 7 months, and Fontan completion at 3 years using a 16 mm non‐fenestrated extracardiac Gore‐Tex conduit.
Raymond N. Haddad +3 more
wiley +1 more source
Objectives: To evaluate the safety of using the stiff end of a coronary wire to perforate an atretic pulmonary valve (PV) in patients with pulmonary atresia with intact ventricular septum (PAIVS).
Sahar El Shedoudy, Eman El-Doklah
doaj +1 more source
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau +10 more
wiley +1 more source
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
Transposisi Arteri Besar: Anatomi, Klinik, Kelainan Penyerta, dan Tipe
Latar belakang. Transposisi arteri besar (TAB) merupakan salah satu penyakit jantung bawaan (PJB) tipe sianotik yang bermanifestasi pada periode bayi baru lahir.
Sri Endah Rahayuningsih
doaj +1 more source
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang +3 more
wiley +1 more source
Oitenta e quatro pacientes foram submetidos a operação tipo Fontan, no Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, entre 1979 e 1989; as idades variaram entre 5 meses e 31 anos.
Miguel Barbero-Marcial +7 more
doaj
Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu +7 more
wiley +1 more source
Twin pregnancy complicated by total placenta previa in a Fontan-palliated patient: A case report
We present a case of a twin pregnancy in a Fontan-palliated woman that was complicated by total placenta previa. The patient was diagnosed with tricuspid atresia type II, and underwent the Fontan operation at 11 years of age.
Aoi Morita +5 more
doaj +1 more source
Prognostic value of fetal growth and prenatal functional echocardiography in tetralogy of FALLOT
First demonstration that fetal growth and pulmonary peak velocity at third trimester are independent predictors of postnatal outcome in Tetralogy of Fallot. This may enhance the accuracy of prenatal counseling and facilitate more individualized planning for delivery and neonatal care. Abstract Introduction Tetralogy of Fallot (ToF) shows variability in
Laura Nogué +17 more
wiley +1 more source

