Results 31 to 40 of about 28,697 (231)

Survival prediction of high-risk outborn neonates with congenital diaphragmatic hernia from capillary blood gases [PDF]

, 2016
BACKGROUND: The extent of lung hypoplasia in neonates with congenital diaphragmatic hernia (CDH) can be assessed from gas exchange. We examined the role of preductal capillary blood gases in prognosticating outcome in patients with CDH ...
Bojanić, Katarina, Grizelj, Ruža, Luetić, Tomislav, Pritišanac, Ena, Schroeder, Darrell R., Sprung, Juraj, Vuković, Jurica, Weingarten, Toby N.   +7 more
core   +1 more source

Congenital diaphragmatic hernia

, 2021
Congenital diaphragmatic hernia occurs in 1–5/10,000 live births. It is characterized by a defect in the separation of the thoracic cavity from the abdominal cavity due to incomplete development of the diaphragm. It follows the herniation of abdominal viscera at the thoracic level with hypoplasia of the lung ipsilateral to the hernia.
Boonthai, Ampaipan, Losty, Paul D
openaire   +3 more sources

Gastrointestinal malrotation and chronic intestinal pseudo‐obstruction in two pediatric patients with Baraitser‐Winter cerebrofrontofacial syndrome

JPGN Reports, EarlyView.
Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee, Vikram Raghu, Jeffrey Rudolph, Feras Alissa, Vibha Sood   +4 more
wiley   +1 more source

Concurrent congenital peritoneopericardial diaphragmatic hernia and bochdalek hernia in a neonate [PDF]

, 2014
We present the first report of a neonate with, concurrent left sided Bochdalek hernia and peritoneopericardial diaphragmatic ...
Chad A Kort, Jayant Radhakrishnan, Jonathan F Bean   +2 more
core   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

Congenital diaphragmatic hernia: To repair on or off extracorporeal membrane oxygenation? [PDF]

, 2012
Background: Congenital diaphragmatic hernia (CDH) can be repaired on or off extracorporeal membrane oxygenation (ECMO). In many centers, operating off ECMO is advocated to prevent bleeding complications.
Bax, N.M.A. (Klaas), Houmes, R.J.M. (Robert Jan), Jongste-van den Hout, L. (Lieke) de, Keijzer, R. (Richard), Rycus, P. (Peter), Sluijter, I. (Ilona), Tibboel, D. (Dick), Ven, K. (Kees) van de, Wilschut, D.E. (Dorien)   +8 more
core   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

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

Unique tracheal fluid microRNA signature predicts response to FETO in patients with congenital diaphragmatic hernia [PDF]

, 2015
"Epub ahead of print 2015 Jan 5"OBJECTIVE AND BACKGROUND: Our objective was to determine the fetal in vivo microRNA signature in hypoplastic lungs of human fetuses with severe isolated congenital diaphragmatic hernia (CDH) and changes in tracheal and ...
DeKoninck, Philip, Deprest, Jan A., Iwasiow, Barbara M., Keijzer, Richard, Kholdebarin, Ramin, Khoshgoo, Naghmeh, Munck, Anne A. Boerema-De, Pinto, Jorge Correia, Post, Martin, Rottier, Robbert J., Terra, Patrícia Daniela Pereira, Tibboel, Dick, Wang, Jinxia, Zhu, Fuqin   +13 more
core   +1 more source

CONGENITAL DIAPHRAGMATIC HERNIA AND ESOPHAGEAL ATRESIA: THE IMPORTANCE OF RESPIRATORY FOLLOW-UP IN CONGENITAL THORACIC MALFORMATION [PDF]

, 2013
Esophageal atresia, congenital diaphragmatic hernia, pulmonary function test, respiratory morbidity, Long-term follow ...
CORSELLO, Giovanni, GIUFFRE, Mario, Matina, F, PICCIONE, Maria, PIRO, Ettore, Zicari, C   +5 more
core