Results 71 to 80 of about 18,119 (214)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

Esophageal lung resection and prosthesis placement in a preterm neonate

Journal of Indian Association of Pediatric Surgeons, 2015
This report describes a successful outcome in a preterm baby with an esophageal atresia and tracheo-esophageal fistula, who initially underwent a primary esophageal repair; but a persistent nonexpanding lung on the side of surgery led to further ...
Lalit Parida, Kamalesh Pal, Hussah A Buainain, Khalid U Al-Umran   +3 more
doaj   +1 more source

THE PREVALENCE OF BIRTH DEFECTS AMONG NON-HISPANIC ASIANS AND AMERICAN INDIANS/ALASKA NATIVES IN TEXAS, 1999-2015 [PDF]

, 2019
Background: Birth defects are disproportionately higher among certain race/ethnic groups. We examined how birth defects prevalence differs among the less studied non-Hispanic (NH) Asian and any American Indian/Alaska Native (AI/AN) populations, relative ...
LE, VAN
core   +1 more source

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]

, 2019
This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S, Borrelli M, Caffarelli C, Corsello G., Di Pinto R, Gaeta V, Iovane B, Mastrorilli C, Petraroli M, Santamaria F, Santoro A   +10 more
core   +2 more sources

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

The morphopathological particuliarities of intrinsic innervation of the esophagus in newborns with esophageal atresia and inferior tracheoesophageal fistula

Хірургія дитячого віку, 2019
The authors present the results of a morphological study of the biological samples from patients treated with the inferior esophageal atresia with tracheoesophageal fistula, which included immunohistochemical examination of neuronal changes in the ...
S. Babuci, V. Petrovici, S. Gladun, D. Haidarli, A. Pisarenco, L. Sinițina, D. David   +6 more
doaj   +1 more source

3D transparent technology displays the developmental patterns of ductus arteriosus morphology in chicken embryos before and after birth

Journal of Anatomy, EarlyView.
At the eighth week of human embryonic development, 3D transparent imaging enables clear visualization of the outflow tract's morphological features, revealing its anatomical components in detail. Abstract The ductus arteriosus (DA) is a critical fetal vascular structure that shunts blood from the pulmonary artery to the aorta, bypassing the non ...
Conghong Xu, Lidi Li, Xiu Wu, Yanli Zhang, Chuanye Wu, Juan Chen, Haihua Gao, Zhenglai Ma   +7 more
wiley   +1 more source

An unusual case of esophageal and laryngotracheal atresia

The Turkish Journal of Pediatrics, 2002
Esophageal atresia with or without tracheoesophageal fistula is a relatively common congenital anomaly. However, esophageal atresia with associated laryngotracheal atresia, double tracheoesophageal fistula and cardiac malformations is an extremely
Ayşe Korkmaz, Beril Talim, Gülsevin Tekinalp, Didem Aliefendioğlu, Atilla Senayli, Safiye Gögüş   +5 more
doaj  

Clinico-Radiological Diagnosis of Isolated Congenital Esophageal Stenosis in a Preterm Neonate

European Journal of Pediatric Surgery Reports, 2013
A 2-day-old preterm female neonate weighing 1.6 kg and having excessive frothing from mouth was investigated for suspected esophageal atresia and tracheoesophageal fistula.
Minakshi Sham
doaj   +1 more source