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Congenital diaphragmatic hernia

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https://www.readbyqxmd.com/read/29161443/fragile-x-syndrome-with-congenital-diaphragmatic-hernia
#1
Archana Kadam, Anand Pandit, Sanjay Patole
The authors present a case of Fragile X syndrome (FXS) in siblings from an Indian family with no developmental delay in previous generations. The boy presented with developmental delay, autistic features and defiant behaviours that raised clinical suspicion. He also had congenital diaphragmatic hernia (CDH). Social anxiety and difficulty in making friends were the subtle features in his sister with dull normal intelligence. FXS was confirmed by clinical features and DNA testing. Intervention was initiated for both the siblings...
November 17, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29160640/thoracoscopic-repair-of-congenital-diaphragmatic-hernia-review-of-the-results
#2
Catarina Barroso, Jorge Correia-Pinto
Congenital diaphragmatic hernia (CDH) remains one of the major challenges in neonatal surgery. Survival rate has increased in the last decades mainly due to perinatal care and surgical technique improvements. Classically, a laparotomy has been performed after cardiovascular and respiratory stabilization. Introduction of thoracoscopy in the repair of CDH brought the known advantages of reduced postoperative pain and better cosmesis. However, its safety and effectiveness have been questioned in the last few years...
November 21, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/29149098/early-versus-late-surgical-correction-in-congenital-diaphragmatic-hernia
#3
Alexandra Yunes, Matías Luco, Juan Carlos Pattillo
INTRODUCTION: The timing of surgical repair in patients with congenital diaphragmatic hernia has been a controversial topic over the years, and there is still no agreement as to whether immediate repair or late surgery with preoperative stabilization is preferable. METHODS: To answer this question we used Epistemonikos, the largest database of systematic reviews in health, which is maintained by screening multiple information sources, including MEDLINE, EMBASE, Cochrane, among others...
November 15, 2017: Medwave
https://www.readbyqxmd.com/read/29144241/shifting-risks-and-conflicting-outcomes-ecmo-for-neonates-with-congenital-diaphragmatic-hernia-in-the-modern-era
#4
Joseph W Turek, Joseph R Nellis, Brenton G Sherwood, Meera Kotagal, Andrew L Mesher, Ravi R Thiagarajan, Sonali S Patel, Jeffrey R Avansino, Peter T Rycus, D Michael McMullan, Thomas V Brogan
OBJECTIVES: To update previously described trends for neonates with congenital diaphragmatic hernia (CDH) receiving ECMO with changes in recommendations for care, and to determine how recent advancements in respiratory care have affected this patient population. STUDY DESIGN: This study is a retrospective review of more than 2500 neonates with CDH who received ECMO listed in the Extracorporeal Life Support Organization (ELSO) registry. Cochran-Armitage and multivariate regression analyses were used to analyze changes in the patient population over time and in mortality-related risk factors...
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#5
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29138242/role-of-ecmo-in-congenital-diaphragmatic-hernia
#6
REVIEW
Merrill McHoney, Philip Hammond
Congenital diaphragmatic hernia (CDH) is typified morphologically by failure of diaphragmatic development with accompanying lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Patients who have labile physiology and low preductal saturations despite optimal ventilatory and inotropic support may be considered for extracorporeal membrane oxygenation (ECMO). Systematic reviews into the benefits of ECMO in CDH concluded that any benefit is unclear. Few randomised trials exist to demonstrate clear benefit and guide management...
November 14, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29137806/a-novel-multimodal-computational-system-using-near-infrared-spectroscopy-predicts-the-need-for-ecmo-initiation-in-neonates-with-congenital-diaphragmatic-hernia
#7
Stephanie M Cruz, Patricio E Lau, Craig G Rusin, Candace C Style, Darrell L Cass, Caraciolo J Fernandes, Timothy C Lee, Christopher J Rhee, Sundeep Keswani, Rodrigo Ruano, Stephen E Welty, Oluyinka O Olutoye
BACKGROUND/PURPOSE: The purpose of this study was to develop a computational algorithm that would predict the need for ECMO in neonates with congenital diaphragmatic hernia (CDH). METHODS: CDH patients from August 2010 to 2016 were enrolled in a study to continuously measure cerebral tissue oxygen saturation (cStO2) of left and right cerebral hemispheres. NIRS devices utilized were FORE-SIGHT, CASMED and INVOS 5100, Somanetics. Using MATLAB©, a data randomization function was used to deidentify and blindly group patient's data files as follows: 12 for the computational model development phase (6 ECMO and 6 non-ECMO) and the remaining patients for the validation phase...
October 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29135495/prenatal-microrna-mir-200b-therapy-improves-nitrofen-induced-pulmonary-hypoplasia-associated-with-congenital-diaphragmatic-hernia
#8
Naghmeh Khoshgoo, Ramin Kholdebarin, Patricia Pereira-Terra, Thomas H Mahood, Landon Falk, Chelsea A Day, Barbara M Iwasiow, Fuqin Zhu, Drew Mulhall, Carly Fraser, Jorge Correia-Pinto, Richard Keijzer
OBJECTIVE: We aimed to evaluate the use of miR-200b as a prenatal transplacental therapy in the nitrofen rat model of abnormal lung development and congenital diaphragmatic hernia (CDH). BACKGROUND: Pulmonary hypoplasia (PH) and pulmonary hypertension determine mortality and morbidity in CDH babies. There is no safe medical prenatal treatment available. We previously discovered that higher miR-200b is associated with better survival in CDH babies. Here, we investigate the role of miR-200b in the nitrofen rat model of PH and CDH and evaluate its use as an in vivo prenatal therapy...
November 13, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/29127959/congenital-diaphragmatic-hernia-and-diaphragmatic-eventration
#9
REVIEW
Matthew S Clifton, Mark L Wulkan
Congenital diaphragmatic hernia can be approached successfully using minimally invasive techniques. Although there are may be a suggestion of higher recurrence rates with thoracoscopic repair, this may be due to the learning curve. However, open repair is associated with additional morbidity, most notably an increased rate of small bowel obstruction. Appropriate patients who have congenital diaphragmatic hernia should be offered the benefits of minimally invasive repair.
December 2017: Clinics in Perinatology
https://www.readbyqxmd.com/read/29122292/right-versus-left-congenital-diaphragmatic-hernia-what-s-the-difference
#10
Carmen Mesas Burgos, Björn Frenckner, Matias Luco, Matthew T Harting, Pamela A Lally, Kevin P Lally
BACKGROUND: Right-sided congenital diaphragmatic hernias (CDH) and bigger defect sizes have been associated with poorer outcomes. AIM: The aim of this study was to evaluate right- and left-sided CDH in terms of size, survival, associated anomalies, and morbidity. MATERIAL AND METHODS: We used information from a multicenter, multinational database including patients with CDH born between 2007 and 2015. All infants with data on defect side were included for this analysis...
October 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29117038/development-and-validation-of-extracorporeal-membrane-oxygenation-mortality-risk-models-for-congenital-diaphragmatic-hernia
#11
Yigit S Guner, Danh V Nguyen, Lishi Zhang, Yanjun Chen, Matthew T Harting, Peter Rycus, Ryan Barbaro, Matteo Di Nardo, Thomas V Brogan, John P Cleary, Peter T Yu
The purpose of our study was to develop and validate extracorporeal membrane oxygenation (ECMO)-specific mortality risk models for congenital diaphragmatic hernia (CDH). We utilized the data from the Extracorporeal Life Support Organization Registry (2000-2015). Prediction models were developed using multivariable logistic regression. We identified 4,374 neonates with CDH with an overall mortality of 52%. Predictive discrimination (C statistic) for pre-ECMO mortality model was C = 0.65 (95% confidence interval, 0...
November 7, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/29115963/changes-in-vasoactive-pathways-in-congenital-diaphragmatic-hernia-associated-pulmonary-hypertension-explain-unresponsiveness-to-pharmacotherapy
#12
Daphne S Mous, Marjon J Buscop-van Kempen, Rene M H Wijnen, Dick Tibboel, Robbert J Rottier
BACKGROUND: Patients with congenital diaphragmatic hernia (CDH) have structural and functional different pulmonary vessels, leading to pulmonary hypertension. They often fail to respond to standard vasodilator therapy targeting the major vasoactive pathways, causing a high morbidity and mortality. We analyzed whether the expression of crucial members of these vasoactive pathways could explain the lack of responsiveness to therapy in CDH patients. METHODS: The expression of direct targets of current vasodilator therapy in the endothelin and prostacyclin pathway was analyzed in human lung specimens of control and CDH patients...
November 7, 2017: Respiratory Research
https://www.readbyqxmd.com/read/29110826/long-term-morbidity-of-congenital-diaphragmatic-hernia-a-plea-for-standardization
#13
Francesco Morini, Laura Valfrè, Pietro Bagolan
Congenital diaphragmatic hernia (CDH) survivors present long-term morbidities in several systems, including the neurodevelopmental, gastrointestinal, pulmonary, and musculoskeletal ones, and CDH long-term sequelae are increasingly being recognized. Due to high co-morbidity, health related quality of life in a significant proportion of CDH patients might be compromised. As a consequence of consciousness on the long-term sequelae of CDH survivors, and their consequences for life, several follow-up programs were brought to life worldwide...
October 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/29106923/impact-of-objective-echocardiographic-criteria-for-timing-of-congenital-diaphragmatic-hernia-repair
#14
Scott Deeney, Lisa W Howley, Maggie Hodges, Kenneth W Liechty, Ahmed I Marwan, Jason Gien, John P Kinsella, Timothy M Crombleholme
OBJECTIVE: To assess the impact of specific echocardiographic criteria for timing of congenital diaphragmatic hernia repair on the incidence of acute postoperative clinical decompensation from pulmonary hypertensive crisis and/or acute respiratory decompensation, with secondary outcomes including survival to discharge, duration of ventilator support, and length of hospitalization. STUDY DESIGN: The multidisciplinary congenital diaphragmatic hernia management team instituted a protocol in 2012 requiring the specific criterion of echocardiogram-estimated pulmonary artery pressure ≤80% systemic blood pressure before repairing congenital diaphragmatic hernias...
October 26, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29096166/lung-and-liver-growth-and-retinoic-acid-status-in-human-fetuses-with-congenital-diaphragmatic-hernia
#15
Christine K C Loo, Michael A Pearen, Tamara N Pereira, Joanna Perry-Keene, Diane Payton, Grant A Ramm
BACKGROUND: Abnormal retinoic acid (RA) signalling is considered a major cause of congenital diaphragmatic hernia (CDH). Pulmonary hypoplasia and pulmonary hypertension are the major causes of morbidity and mortality in infants born with CDH. Experimental studies in animals have found that RA signalling is involved in lung and liver development, but animal models of CDH do not directly correlate with CDH in human fetuses. This study investigated if RA status is also linked to lung and liver growth in human fetuses with CDH...
October 30, 2017: Early Human Development
https://www.readbyqxmd.com/read/29095781/congenital-diaphragmatic-hernia-in-a-child-with-abdominal-pain-and-respiratory-distress
#16
William Sanh, Jacob C Langer, Savithiri Ratnapalan
We report a case of late presentation of congenital diaphragmatic hernia in a child who presented to the emergency department with abdominal pain and respiratory distress. The usual and unusual presentations of congenital diaphragmatic hernia in older children and their possible complications are discussed.
November 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29080897/congenital-diaphragmatic-hernia-10-year-evaluation-of-survival-extracorporeal-membrane-oxygenation-and-foetoscopic-endotracheal-occlusion-in-four-high-volume-centres
#17
Kitty G Snoek, Anne Greenough, Joost van Rosmalen, Irma Capolupo, Thomas Schaible, Kamal Ali, René M Wijnen, Dick Tibboel
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly with significant mortality. OBJECTIVES: The aim of this study was to determine if there were trends in survival over the last decade and to compare patient populations, treatment options, and survival rates between 4 high-volume centres, and hence determine which factors were associated with survival. METHODS: In 4 high-volume CDH centres from the CDH EURO Consortium, data from all CDH patients born between 2004 and 2013 were analysed...
October 28, 2017: Neonatology
https://www.readbyqxmd.com/read/29079903/anti-oxidants-correct-disturbance-of-redox-enzymes-in-the-hearts-of-rat-fetuses-with-congenital-diaphragmatic-hernia
#18
Rosa Aras-López, L Almeida, V Andreu-Fernández, J Tovar, L Martínez
AIM: To evaluate if the redox system is unbalanced in the hearts of nitrofen-induced congenital diaphragmatic hernia  (CDH) animals and to study the possible preventive effects of two anti-oxidant treatments, apocynin and epigallocatechin-3-gallate (EGCG). METHODS: Adult rats were divided into four groups. Group 1: rats received only vehicle on day E9.5. Group 2: rats received 100 mg nitrofen on day E9.5. Group 3: 1 month before mating rats received apocynin 1...
October 27, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29079316/growth-trajectory-and-neurodevelopmental-outcome-in-infants-with-congenital-diaphragmatic-hernia
#19
Ryan M Antiel, Nan Lin, Daniel J Licht, Casey Hoffman, Lindsay Waqar, Rui Xiao, Stylianos Monos, Jo Ann D'Agostino, Judy Bernbaum, Lisa M Herkert, Natalie E Rintoul, William H Peranteau, Alan W Flake, N Scott Adzick, Holly L Hedrick
PURPOSE: The purpose of this study was to evaluate the impact of impaired growth on short-term neurodevelopmental (ND) outcomes in CDH survivors. METHODS: Between 9/2005-12/2014, 84 of 215 (39%) CDH survivors underwent ND assessment at 12months of age using the BSID-III. RESULTS: Mean cognitive, language, and motor scores were 92.6±13.5, 87.1±11.6, and 87.0±14.4, respectively (normal 100±15). 51% of patients scored 1 SD below the population mean in at least one domain, and 13% scored 2 SD below the population mean...
September 28, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29078158/iatrogenic-gastric-perforation-in-a-misdiagnosed-case-of-late-presenting-congenital-diaphragmatic-hernia-report-of-an-avoidable-complication
#20
Pradeep Kajal, Namita Bhutani, Mohit Goyal, Poonam Kamboj
INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a defect in diaphragm which usually presents with severe respiratory distress in neonatal period. PRESENTATION OF CASE: We present a case of congenital diaphragmatic hernia presenting at an age of 2.5 years in a male child. It was misdiagnosed as a case of pyothorax for which chest tube was attempted on left side resulting in iatrogenic gastric perforation. The patient was managed by early and prompt surgery...
October 12, 2017: International Journal of Surgery Case Reports
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