Results 101 to 110 of about 64,129 (312)

Unusual echocardiographic finding leading to diagnosis of pulmonary sequestration [PDF]

open access: yes, 2008
Pulmonary sequestration is an embryonic mass of non- functioning lung tissue that does not communicate with the tracheobronchial tree and has a reported incidence of 0.15%-6.4% of all the pulmonary malformations.
Arora, R.   +3 more
core  

Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]

open access: yes, 2016
Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F   +9 more
core   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell   +3 more
wiley   +1 more source

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

open access: yesAnnals of Pediatric Cardiology, 2014
We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure.
Lalita Nemani   +5 more
doaj   +1 more source

Open-heart surgery in atrial septal defect.

open access: yesSouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998
Click on the link to view.
openaire   +2 more sources

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Holt-Oram Syndrome: A Rare Variant

open access: yesIranian Journal of Medical Sciences, 2017
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects.
Binoy Shankar   +4 more
doaj  

Presentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report

open access: yesJournal of Medical Case Reports
Background Cleft in the mitral valve leaflet is a primary cause of congenital mitral regurgitation, stemming from developmental anomalies in the mitral valve and frequently associated with other congenital heart defects.
Azin Alizadehasl   +6 more
doaj   +1 more source

Mono‐dimensional, two‐dimensional and Doppler echocardiographic measurements in healthy Standardbred neonatal foals in the first 5 days of life

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Bodyweight, age and breed influence the echocardiographic assessment of foals. There are no echocardiographic studies in Standardbred neonatal foals. Objectives To describe echocardiographic values for selected variables, evaluate intra‐ and inter‐observer variability and assess cardiac changes in the first 5 days of life in healthy
Fernanda Timbó D'el Rey Dantas   +8 more
wiley   +1 more source

Real-time three-dimensional ultrasound : a valuable new tool in preoperative assessment of complex congenital cardiac disease [PDF]

open access: yes, 2003
Evaluating complex cardiac defects in small children preoperatively requires multiple diagnostic procedures including echocardiography, and also invasive methods such as cardiac catheterisation, computer-tomography and magnetic resonance imaging.
Dalla Pozza, Robert   +3 more
core  

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