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https://www.readbyqxmd.com/read/28336004/-postnatal-diagnosis-of-gastric-volvulus-revealing-congenital-diaphragmatic-hernia
#1
A Aprahamian, V Nouyrigat, D Grévent, E Hervieux, G Chéron
Postnatally diagnosed congenital diaphragmatic hernias (CDH) are rare and have a better prognosis than those diagnosed prenatally. Postnatal symptoms can be respiratory, digestive, or mixed. Gastric volvulus can reveal CDH. Symptoms are pain, abdominal distension, and/or vomiting. Upper gastrointestinal barium X-ray radiography provides the diagnosis. Prognosis is related to early surgical management in complicated forms with intestinal occlusion or sub-occlusion. We report on an infant who presented with vomiting, which revealed gastric volvulus associated with a CDH...
March 20, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28331629/congenital-diaphragmatic-hernia-a-review
#2
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/28326219/a-case-of-spontaneous-transdiaphragmatic-intercostal-hernia-with-contralateral-injury-and-review-of-the-literature
#3
Alexander A Chapman, Steven B Duff
This case report discusses the diagnosis and management of a 67-year-old male presenting with a spontaneous transdiaphragmatic intercostal hernia with contralateral intercostal hernia. The patient had a history of chronic obstructive pulmonary disease (COPD) exacerbations requiring multiple prolonged courses of steroids. The patient was ultimately diagnosed with computed tomography (CT) and underwent surgical repair via thoracotomy with primary repair of the diaphragmatic defect. The patient's postoperative course was uncomplicated...
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/28325581/prenatal-prediction-of-pulmonary-hypoplasia
#4
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/28325075/acquired-transdiaphragmatic-hernia-an-unusual-cause-of-cardiac-tamponade
#5
Virginie D'Orio, Pierre Demondion, Guillaume Lebreton, Guillaume Coutance, Sheida Varnous, Pascal Leprince
Transdiaphragmatic peritoneopericardial hernia is a rare complication after peritoneopericardial window formation, coronary artery bypass grafting using the gastroepiploic artery, or subxiphoid epicardial pacemaker insertion. We describe two different clinical presentations of transdiaphragmatic peritoneopericardial hernia in patients who had undergone recent heart transplantation. One was an exceptional case of cardiac tamponade caused by small bowel strangulation through a diaphragmatic defect.
March 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28324716/postnatal-mri-for-cdh-a-pictorial-review-of-late-presenting-and-recurrent-diaphragmatic-defects
#6
REVIEW
Wendy Kim, Jesse Courtier, Cara Morin, Narendra Shet, Eric Strauch, Jane S Kim
Late-presenting or recurrent diaphragmatic defects can pose a diagnostic challenge due to varying clinical presentations. Current diagnostic approaches include plain film radiograph for initial assessment, with other imaging modalities such as fluoroscopy, ultrasound, CT and MRI mainly utilized for troubleshooting. As a radiation-free modality, MRI can provide a more definitive diagnosis in particular cases due to its ability to visualize discontinuity of the diaphragm, distinguishing it from eventration. MRI can also accurately characterize hernia contents, defect location and size...
March 8, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28321802/sepsis-risk-factors-in-infants-with-congenital-diaphragmatic-hernia
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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/28263952/de-novo-setd5-nonsense-mutation-associated-with-diaphragmatic-hernia-and-severe-cerebral-cortical-dysplasia
#18
Lettie E Rawlins, Karen L Stals, Julian D Eason, Peter D Turnpenny
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28260541/aortic-arch-advancement-for-type-a-interrupted-aortic-arch-with-persistent-fifth-aortic-arch-type-b
#19
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
#20
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
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