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Congenital diaphragmatic hernia

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https://www.readbyqxmd.com/read/28331629/congenital-diaphragmatic-hernia-a-review
#1
REVIEW
Praveen Kumar Chandrasekharan, Munmun Rawat, Rajeshwari Madappa, David H Rothstein, Satyan Lakshminrusimha
Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28325581/prenatal-prediction-of-pulmonary-hypoplasia
#2
REVIEW
Jourdan E Triebwasser, Marjorie C Treadwell
Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management...
March 15, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28321802/sepsis-risk-factors-in-infants-with-congenital-diaphragmatic-hernia
#3
Michaël Levy, Nolwenn Le Sache, Mostafa Mokhtari, Guy Fagherazzi, Gaelle Cuzon, Benjamin Bueno, Virginie Fouquet, Alexandra Benachi, Sergio Eleni Dit Trolli, Pierre Tissieres
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly and remains among the most challenging ICU-managed disease. Beside severe pulmonary hypertension, lung hypoplasia and major abdominal surgery, infective complications remain major determinants of outcome. However, the specific incidence of sepsis as well as associated risk factors is unknown. METHODS: This prospective, 4-year observational study took place in the pediatric intensive care and neonatal medicine department of the Paris South University Hospitals (Le Kremlin-Bicêtre, France), CDH national referral center and involved 62 neonates with CDH...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28319942/right-congenital-diaphragmatic-hernias-is-there-a-correlation-between-prenatal-lung-volume-and-postnatal-survival-as-in-isolated-left-diaphragmatic-hernias
#4
Teresa Victoria, Enrico Danzer, Edward R Oliver, J Christopher Edgar, Suzanne Iyoob, Emily A Partridge, Ann M Johnson, William H Peranteau, Beverly G Coleman, Alan W Flake, Mark P Johnson, Holly H Hedrick, N Scott Adzick
OBJECTIVES: Whereas left-sided congenital diaphragmatic hernias (L-CDH) have been extensively studied and their prognostic parameters delineated, right-sided hernias (R-CDH) have not. Published results remain inconclusive. The aim of this study is to evaluate if proven prognostic indicators of postnatal survival in the fetus with L-CDH apply to the fetus with R-CDH. METHODS: Retrospective single-center study of R-CDH fetuses with available prenatal studies assessed for fetal lung volume by means of ultrasound-measured observed versus expected (O/E) lung area to head circumference (LHR) and magnetic resonance-calculated O/E total lung volume (TLV) in a 12-year time period...
March 21, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#5
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28301893/congenital-diaphragmatic-hernia-the-side-of-diaphragmatic-defect-and-associated-nondiaphragmatic-malformations
#6
Ruža Grizelj, Katarina Bojanić, Jurica Vuković, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
Background Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Methods Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28295742/prognosis-of-isolated-congenital-diaphragmatic-hernia-using-lung-to-head-circumference-ratio-variability-across-centers-in-a-national-perinatal-network
#7
Marie-Victoire Senat, Hanane Bouchghoul, Julien Stirnemann, Pascal Vaast, Julia Boubnova, Laetitia Begue, Elizabeth Carricaburu, Agnes Sartor, Jacques Jani, Alexandra Benachi, Jean Bouyer
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly. The observed to expected lung area-to-head circumference ratio (o/e-LHR) has been shown to provide a useful prediction of subsequent survival in fetuses with CDH in reference centers with expertise and a large caseload. However, the accuracy of o/e-LHR measurements in unselected fetal medicine units or in centers with less expertise is not well known. OBJECTIVE: To evaluate o/e-LHR measurement in prognostic evaluation of postnatal survival when the measurement is performed in fetal medicine units with different levels of expertise...
March 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28289880/pediatric-morgagni-diaphragmatic-hernia-a-descriptive-study
#8
Jamie Golden, Wesley E Barry, Gene Jang, Nam Nguyen, David Bliss
INTRODUCTION: The Morgagni hernia (MH) accounts for 3-4% of congenital diaphragmatic hernias. There is a paucity of data regarding this rare defect. The purpose of this study is to describe the characteristics of children with MH, surgical approaches for repair, and patient outcomes. METHODS: Pediatric patients (ages 0-18) with a MH from 2002 to 2014 at a single, freestanding pediatric hospital were retrospectively reviewed. Patient presentation, demographics, operative methods and findings, and outcomes were evaluated...
March 13, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28286461/psychomotor-retardation-with-a-1q42-11-q42-12-deletion
#9
Jialing He, Yingjun Xie, Shu Kong, Wenjun Qiu, Xiaoman Wang, Ding Wang, Xiaofang Sun, Deming Sun
A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found a de novo 1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation. A 1.9 Mb deletion located within 1q42.11-q42.12 was validated at the molecular cytogenetic level. This is the first report of a 1q42.11-q42.12 deletion in a patient with onlypsychomotor retardation. The precise break points could facilitate the discovery of potential causative genes, such as LBR, EPHX1, etc...
2017: Hereditas
https://www.readbyqxmd.com/read/28277913/observed-to-expected-mri-fetal-lung-volume-can-predict-long-term-lung-morbidity-in-infants-with-congenital-diaphragmatic-hernia
#10
Hiroyuki Tsuda, Tomomi Kotani, Mayo Miura, Yumiko Ito, Shima Hirako, Tomoko Nakano, Kenji Imai, Fumitaka Kikkawa
OBJECTIVE: Congenital diaphragmatic hernia (CDH) causes pulmonary hypoplasia and pulmonary hypertension, which are associated with long-term respiratory problems in infants. The aim of this study was to establish a marker for predicting lung function at 1 year of age in infants with CDH. MATERIAL AND METHODS: Infants with isolated CDH who were delivered after 35 weeks of gestation from April 2008 to June 2016 at Nagoya University Hospital were registered. Regarding alive infants with CDH, only those who underwent follow-up for at least 1 year were registered...
February 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#11
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28270239/-late-presentation-of-congenital-diaphragmatic-hernia
#12
N S Planting, A K E Hoffman-Haringsma
Congenital diaphragmatic hernia (CDH) is a rare congenital defect. Most cases are currently diagnosed either prenatally by ultrasound or shortly after birth. Late presentation of CDH is uncommon, and symptoms vary greatly. Here we describe two cases. The first concerns a 9-year-old boy with abdominal pain. The symptoms were interpreted as constipation and he was admitted for a high enema. After a few hours he developed severe respiratory distress; chest X-ray revealed a tension gastrothorax, and thoracostomy resulted in immediate respiratory improvement...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28267443/balloon-removal-after-fetoscopic-endoluminal-tracheal-occlusion-for-congenital-diaphragmatic-hernia
#13
Julio A Jiménez, Elisenda Eixarch, Philip Dekoninck, João R Bennini, Roland Devlieger, Cleisson F Peralta, Eduard Gratacos, Jan Deprest
BACKGROUND: Isolated congenital diaphragmatic hernia (CDH) defect allows viscera to herniate into the chest, competing for space with the developing lungs. At birth, pulmonary hypoplasia leads to respiratory insufficiency and persistent pulmonary hypertension that is lethal in up to 30% of patients. Antenatal measurement of lung size and liver herniation can predict survival after birth. Prenatal intervention aims at stimulating lung development, clinically achieved by percutaneous fetal endoscopic tracheal occlusion (FETO) under local anesthesia...
March 3, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28260541/aortic-arch-advancement-for-type-a-interrupted-aortic-arch-with-persistent-fifth-aortic-arch-type-b
#14
Ziyad M Binsalamah, Peter Chen, Emmett D McKenzie
Persistence of the fifth aortic arch is a very rare anomaly, but is clinically relevant when it is associated with coarctation. We report a case of a neonate with type A interrupted aortic arch and severe coarctation of a persistent fifth aortic arch, which was discovered after repair of a left congenital diaphragmatic hernia. The combination of anomalies was discovered intra-operatively following left thoracotomy, and was treated with aortic arch advancement. The postoperative course was uneventful.
March 6, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28242965/role-of-ultrasound-based-prenatal-prediction-of-pulmonary-function-in-congenital-diaphragmatic-hernia-does-it-have-prognostic-significance-postnatally
#15
Nupur Shah, Sujit Chowdhary, Anita Kaul
BACKGROUND AND OBJECTIVES: The incidence of congenital diaphragmatic hernia (CDH) in India is 1 in 1000. About 60 % of these are isolated, and the survival prognosis in them depends upon the quantum of contralateral functional lung. Out of the various pulmonary and extrapulmonary sonological predictors, observed to expected lung-head ratio (O/E LHR) is an efficient gestation-independent predictor of pulmonary function. This study was carried out to see the correlation of this prenatal predictor with the postnatal outcome depending on the pulmonary function...
February 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28232645/iatrogenic-diaphragmatic-hernia-following-laparoscopic-left-colectomy-for-splenic-flexure-cancer-an-unusual-complication
#16
Paolo Dell'Abate, Elisa Bertocchi, Raffaele Dalla Valle, Lorenzo Viani, Paolo Del Rio, Mario Sianesi
Iatrogenic diaphragmatic hernia following laparoscopic left colectomy for splenic flexure cancer. An unusual complication Diaphragmatic hernias are a migration of abdominal structures into the thorax via a diaphragmatic defect; they may be classified as congenital or acquired and acquired hernias can be hiatal, traumatic or iatrogenic, generally complications of thoracic or abdominal surgery. We report a case of iatrogenic diaphragmatic hernia after a laparoscopic left colectomy for splenic flexure tumor; to our knowledge, in literature this case is the first reported...
November 3, 2016: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28230834/risk-stratification-for-congenital-diaphragmatic-hernia-by-factors-within-24%C3%A2-h-after-birth
#17
K Terui, K Nagata, Y Kanamori, S Takahashi, M Hayakawa, H Okuyama, N Inamura, H Yoshida, T Taguchi, N Usui
OBJECTIVE: To establish a simple risk stratification system for patients with congenital diaphragmatic hernia (CDH) based on postnatal information within 24 h after birth. STUDY DESIGN: A multi-institutional retrospective cohort study was conducted including 348 neonates who had isolated CDH born between 2006 and 2010. Based on the two most powerful variables for 90-day survival selected by multivariate analyses, a risk stratification system was established. RESULTS: Multiple logistic regression analysis identified two adverse prognostic factors: an Apgar score at 1 min (Ap1) of 0-4 (odds ratio (OR) 3...
February 23, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28223011/extracorporeal-membrane-oxygenation-support-in-neonates-a-single-medical-center-experience-in-taiwan
#18
Chi-Man Kuok, Po-Nien Tsao, Chien-Yi Chen, Hung-Chieh Chou, Wu-Shiun Hsieh, Shu-Chien Huang, Yih-Sharng Chen, En-Ting Wu
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) was used in neonates with severe cardiopulmonary failure who failed to respond to conventional therapy. We started to apply neck venoarterial ECMO (VA-ECMO) in neonatal patients from 2000. In this study, we have focused on neonates who received ECMO support and described the current status of ECMO in neonates for both cardiac and pulmonary support and the risk factors associated with their outcomes. METHODS: Data were retrieved from our ECMO database for the neonates (age < 28 days) who received neck VA-ECMO support from January 2005 to June 2015...
January 17, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28211131/congenital-diaphragmatic-hernia-outcomes-of-neonates-treated-at-mayo-clinic-with-and-without-extracorporeal-membrane-oxygenation
#19
Katarina Bojanić, Jason M Woodbury, Alexandre N Cavalcante, Ruža Grizelj, Garth F Asay, Christopher E Colby, William A Carey, Gregory J Schears, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare anomaly with high mortality and long-term comorbid conditions. AIMS: Our aim was to describe the presenting characteristics, treatment, and outcomes of consecutive patients with CDH treated at our institution. METHODS: We performed a retrospective cohort study and identified consecutive neonates treated for CDH from 2001 to 2015 at our institution. For all patients identified, we reviewed hospital and postdischarge data for neonatal, disease, and treatment characteristics...
March 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28203431/pulmonary-sequestration-mimicking-a-pancreas-herniation-in-a-case-of-recurrent-bochdalek-hernia
#20
Gaëtan-Romain Joliat, Jean Yannis Perentes, Hans-Beat Ris, Nermin Halkic
In the reported scenario, the patient known for a history of operated Bochdalek hernia or congenital diaphragmatic hernia (CDH) presented with new abdominal pain. The CT-scan suspected the presence of pancreas herniation through a recurrent CDH. Intraoperatively, the patient was found to have a recurrent CDH containing greater omentum concomitantly with a pulmonary sequestration (PS). This case report highlights the fact that intraoperative findings can be different from preoperative radiological diagnosis...
January 2017: Journal of Thoracic Disease
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