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diaphragmatic hernia

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https://www.readbyqxmd.com/read/29341044/antenatal-medical-therapies-to-improve-lung-development-in-congenital-diaphragmatic-hernia
#1
Aidan Kashyap, Philip DeKoninck, Kelly Crossley, Marta Thio, Graeme Polglase, Francesca Maria Russo, Jan Deprest, Stuart Hooper, Ryan Hodges
Congenital diaphragmatic hernia (CDH) is a birth defect characterized by failed closure of the diaphragm, allowing abdominal viscera to herniate into the thoracic cavity and subsequently impair pulmonary and vascular development. Despite improving standardized postnatal management, there remains a population of severe CDH for whom postnatal care falls short. In these severe cases, antenatal surgical intervention (fetoscopic endoluminal tracheal occlusion [FETO]) may improve survival; however, FETO increases the risk of preterm delivery, is not widely offered, and still fails in half of cases...
January 16, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29340828/hiatal-hernia-recurrence-following-magnetic-sphincter-augmentation-and-posterior-cruroplasty-intermediate-term-outcomes
#2
Kais A Rona, James M Tatum, Joerg Zehetner, Katrin Schwameis, Carol Chow, Kamran Samakar, Adrian Dobrowolsky, Caitlin C Houghton, Nikolai Bildzukewicz, John C Lipham
BACKGROUND: We have previously reported short-term outcomes after hiatal hernia repair (HHR) at the time of magnetic sphincter augmentation (MSA) for gastroesophageal reflux disease (GERD). Here we report intermediate-term outcomes and hernia recurrence rate after concomitant MSA and HHR. METHODS: This is a retrospective cohort study of patients who underwent repair of a hiatal hernia 3 cm or larger at the time of MSA implantation between May 2009 and December 2015...
January 16, 2018: Surgical Endoscopy
https://www.readbyqxmd.com/read/29338874/extracorporeal-membrane-oxygenation-in-infants-with-congenital-diaphragmatic-hernia
#3
REVIEW
Theresa R Grover, Natalie E Rintoul, Holly L Hedrick
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly which impairs normal pulmonary development leading to acute and chronic respiratory failure, pulmonary hypoplasia, pulmonary hypertension, and mortality. CDH is the most common non-cardiac indication for neonatal ECMO. Prenatal and postnatal predictors of CDH severity aid in patient selection. Centers vary in preferred mode of ECMO and timing of CDH repair. Survivors of severe CDH with ECMO are at risk for long-term sequelae including neurodevelopmental delays...
January 12, 2018: Seminars in Perinatology
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#4
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29330547/recessive-loss-of-function-pign-alleles-including-an-intragenic-deletion-with-founder-effect-in-la-r%C3%A3-union-island-in-patients-with-fryns-syndrome
#5
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29329576/spontaneous-prematurity-in-fetuses-with-congenital-diaphragmatic-hernia-a-retrospective-cohort-study-about-prenatal-predictive-factors
#6
Bruna Maria Lopes Barbosa, Agatha S Rodrigues, Mario Henrique Burlacchini Carvalho, Roberto Eduardo Bittar, Rossana Pulcineli Vieira Francisco, Lisandra Stein Bernardes
BACKGROUND: To evaluate possible predictive factors of spontaneous prematurity in fetuses with congenital diaphragmatic hernia (CDH). METHODS: A retrospective cohort study was performed. Inclusion criteria were presence of CDH; absence of fetoscopy; absence of karyotype abnormality; maximum of one major malformation associated with diaphragmatic hernia; ultrasound monitoring at the Obstetrics Clinic of Clinicas Hospital at the University of São Paulo School of Medicine, from January 2001 to October 2014...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#7
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29319634/hyperoxia-and-hypocapnia-during-pediatric-extracorporeal-membrane-oxygenation-associations-with-complications-mortality-and-functional-status-among-survivors
#8
Katherine Cashen, Ron Reeder, Heidi J Dalton, Robert A Berg, Thomas P Shanley, Christopher J L Newth, Murray M Pollack, David Wessel, Joseph Carcillo, Rick Harrison, J Michael Dean, Robert Tamburro, Kathleen L Meert
OBJECTIVES: To determine the frequency of hyperoxia and hypocapnia during pediatric extracorporeal membrane oxygenation and their relationships to complications, mortality, and functional status among survivors. DESIGN: Secondary analysis of data collected prospectively by the Collaborative Pediatric Critical Care Research Network. SETTING: Eight Collaborative Pediatric Critical Care Research Network-affiliated hospitals. PATIENTS: Age less than 19 years and treated with extracorporeal membrane oxygenation...
January 9, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29318024/congenital-cranial-ventral-abdominal-hernia-peritoneopericardial-diaphragmatic-hernia-and-sternal-cleft-in-a-4-year-old-multiparous-pregnant-queen
#9
Camille Bismuth, Claire Deroy
Case summary: Cranial ventral midline hernias, most often congenital, can be associated with other congenital abnormalities, such as sternal, diaphragmatic or cardiac malformations. A 4-year-old multiparous queen with a substernal hernia was admitted for evaluation of a mammary mass. During CT examination, a bifid sternum, the abdominal hernia containing the intestines, spleen, omentum, three fetuses, a mammary mass and an incidental peritoneopericardial diaphragmatic hernia were identified...
July 2017: JFMS Open Reports
https://www.readbyqxmd.com/read/29316358/continuous-intravenous-sildenafil-as-an-early-treatment-in-neonates-with-congenital-diaphragmatic-hernia
#10
Florian Kipfmueller, Lukas Schroeder, Christoph Berg, Katrin Heindel, Peter Bartmann, Andreas Mueller
BACKGROUND: Pulmonary hypertension (PH) is an important contributor of morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). Treatment options are limited, but sildenafil might improve oxygenation and PH in neonates with CDH. OBJECTIVE: Aim of this study is to assess effects of intravenous sildenafil on oxygenation and PH in neonates with CDH. METHODS: A retrospective chart review was performed in all neonates with CDH born in our institution between September 2012 and December 2014...
January 5, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29310117/stats-in-lung-development-distinct-early-and-late-expression-growth-modulation-and-signaling-dysregulation-in-congenital-diaphragmatic-hernia
#11
Paulina Piairo, Rute S Moura, Maria João Baptista, Jorge Correia-Pinto, Cristina Nogueira-Silva
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a life-threatening developmental anomaly, intrinsically combining severe pulmonary hypoplasia and hypertension. During development, signal transducers and activators of transcription (STAT) are utilized to elicit cell growth, differentiation, and survival. METHODS: We used the nitrofen-induced CDH rat model. At selected gestational time points, lungs were divided into two experimental groups, i.e., control or CDH...
December 22, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29305406/early-population-based-outcomes-of-infants-born-with-congenital-diaphragmatic-hernia
#12
Anna-May Long, Kathryn J Bunch, Marian Knight, Jennifer J Kurinczuk, Paul D Losty
PURPOSE: This study aims to describe short-term outcomes of live-born infants with congenital diaphragmatic hernia (CDH) and to identify prognostic factors associated with early mortality. DESIGN: A prospective population cohort study was undertaken between April 2009 and September 2010, collecting data on live-born infants with CDH from all 28 paediatric surgical centres in the UK and Ireland using an established surgical surveillance system. Management and outcomes are described...
January 4, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29304545/prenatal-diagnosis-of-congenital-diaphragmatic-hernia-does-laterality-predict-perinatal-outcomes
#13
Jeffrey D Sperling, Teresa N Sparks, Victoria K Berger, Jody A Farrell, Kristen Gosnell, Roberta L Keller, Mary E Norton, Juan M Gonzalez
OBJECTIVE:  The objective of this study was to examine laterality as a predictor of outcomes among fetuses with prenatally diagnosed congenital diaphragmatic hernia (CDH). METHODS:  This is a retrospective cohort study of pregnancies with CDH evaluated at our center from 2008 to 2016 compared cases with right-sided CDH (RCDH) versus left-sided CDH (LCDH). The primary outcome was survival to discharge. Secondary outcomes included ultrasound predictors of poor prognosis (liver herniation, stomach herniation, lung area-to-head circumference ratio [LHR]), concurrent anomalies, hydrops, stillbirth, preterm birth, mode of delivery, small for gestational age, use of extracorporeal membrane oxygenation, and length of stay...
January 5, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29303891/short-term-neurodevelopmental-outcome-in-congenital-diaphragmatic-hernia-the-impact-of-extracorporeal-membrane-oxygenation-and-timing-of-repair
#14
Enrico Danzer, Casey Hoffman, Jo Ann D'Agostino, James T Connelly, Lindsay N Waqar, Marsha Gerdes, Judy Bernbaum, Natalie E Rintoul, Lisa M Herkert, William H Peranteau, Alan W Flake, N Scott Adzick, Holly L Hedrick
OBJECTIVES: The purpose of this study was to assess the need and timing of extracorporeal membrane oxygenation in relation to congenital diaphragmatic hernia repair as modifiers of short-term neurodevelopmental outcomes. DESIGN: Retrospective study. SETTING: A specialized tertiary care center. PATIENTS: Between June 2004 and February 2016, a total of 212 congenital diaphragmatic hernia survivors enrolled in our follow-up program...
January 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29302380/a-case-of-fatal-pulmonary-hypoplasia-with-congenital-diaphragmatic-hernia-thoracic-myelomeningocele-and-thoracic-dysplasia
#15
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29297742/the-flat-diaphragm-does-the-degree-of-curvature-of-the-diaphragm-on-postoperative-x-ray-predict-congenital-diaphragmatic-hernia-recurrence
#16
Heather L Short, Matthew S Clifton, Kelly Arps, Curtis Travers, Jonathan Loewen, Avraham Schlager
PURPOSE: The appearance of the diaphragmatic curvature and the rib insertion level of the diaphragm on postoperative chest X-ray (CXR) may predict recurrence. Our purpose was to examine the relationship between the curvature of the diaphragm on postoperative CXR and recurrence. METHODS: We performed a retrospective review of left-sided, Bochdalek congenital diaphragmatic hernia (CDH) surgical repairs from 2004 to 2015 at a single institution. We developed a tool to measure the flatness of the diaphragm on postoperative CXR, termed the diaphragmatic curvature index (τ)...
January 3, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29277671/early-and-long-term-results-of-tracheal-sleeve-pneumonectomy-for-lung-cancer-after-induction-therapy
#17
Domenico Galetta, Lorenzo Spaggiari
BACKGROUND: The role of induction therapy (IT) and its effects on morbidity and mortality of patients receiving tracheal sleeve pneumonectomy (TSP) are unclear. We evaluated early and long-term outcomes of patients who underwent TSP after IT. METHODS: From 1998 to 2015, 32 patients (26 men; median age, 63 years) underwent TSP. Twenty-two patients (69%) received IT (cisplatin based chemotherapy). TSPs were all right sided and included 3 completion pneumonectomies...
December 22, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29274787/expert-surgical-consensus-for-prenatal-counseling-using-the-delphi-method
#18
Loren Berman, Jordan Jackson, Kristen Miller, Rebecca Kowalski, Paul Kolm, Francois I Luks
BACKGROUND: Pediatric surgeons frequently offer prenatal consultation for congenital pulmonary airway malformation (CPAM) and congenital diaphragmatic hernia (CDH); however, there is no evidence-based consensus to guide prenatal decision making and counseling for these conditions. Eliciting feedback from experts is integral to defining best practice regarding prenatal counseling and intervention. METHODS: A Delphi consensus process was undertaken using a panel of pediatric surgeons identified as experts in fetal therapy to address current limitations...
November 28, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29266884/-morgagni-larrey-anterior-diaphragmatic-hernias-review-of-13-cases
#19
V Alonso Arroyo, J Morcillo Azcárate, S Pérez Bertólez, A Soares Medina, G Vivas Colmenares, M Requena Díaz, S Roldán Pérez, J A Matute de Cárdenas
OBJECTIVE: A review of anterior congenital diaphragmatic hernias (CDH) treated at our center, analysis of our experience and evolution in the surgical technique in pediatric patients over the last 15 years. MATERIAL AND METHODS: A retrospective descriptive study of patients of our center with anterior CDH (Morgagni, Larrey and Morgagni-Larrey) between 2000 and 2015, through a systematic review of clinical records. The studied variables were: age at diagnosis, age at treatment, diagnostic methods, symptoms, surgical technique, evolution, complications and relapses...
October 25, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29264588/diaphragmatic-herniation-following-donor-hepatectomy-for-living-donor-liver-transplantation-a-serious-complication-not-given-due-recognition
#20
Rajiv Lochan, Rehan Saif, Naveen Ganjoo, Mallikarjun Sakpal, Charles Panackal, Kaiser Raja, Jayanth Reddy, Sonal Asthana, Mathew Jacob
A clear appreciation of benefits and risks associated with living donor hepatectomy is important to facilitate counselling for the donor, family, and recipient in preparation for living donor liver transplant (LDLT). We report a life-threatening complication occurring in one of our live liver donors at 12 weeks following hemi-liver donation. We experienced five donor complications among our first 50 LDLT: Clavien Grade 1, n=1; Clavien grade 2, n=3; and Clavien grade 3B, n=1. The one with Clavien grade 3B had a life-threatening diaphragmatic hernia occurring 12 weeks following hepatectomy...
November 2017: Annals of Hepato-Biliary-Pancreatic Surgery
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