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Congenital diaphragmatic hernia

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https://www.readbyqxmd.com/read/28529538/emergency-surgery-due-to-diaphragmatic-hernia-case-series-and-review
#1
REVIEW
Mario Testini, Antonia Girardi, Roberta Maria Isernia, Angela De Palma, Giovanni Catalano, Angela Pezzolla, Angela Gurrado
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a congenital abnormality, rare in adults with a frequency of 0.17-6%. Diaphragmatic rupture is an infrequent consequence of trauma, occurring in about 5% of severe closed thoraco-abdominal injuries. Clinical presentation ranges from asymptomatic cases to serious respiratory or gastrointestinal symptoms. Diagnosis depends on anamnesis, clinical signs and radiological investigations. METHODS: From May 2013 to June 2016, six cases (four females, two males; mean age 58 years) of diaphragmatic hernia were admitted to our Academic Department of General Surgery with respiratory and abdominal symptoms...
2017: World Journal of Emergency Surgery: WJES
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#2
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527042/parenting-stress-among-parents-of-children-with-congenital-diaphragmatic-hernia
#3
Elin Öst, Margret Nisell, Björn Frenckner, Carmen Mesas Burgos, Maria Öjmyr-Joelsson
PURPOSE: The aim of this study was to examine parental stress among parents of children with congenital diaphragmatic hernia (CDH). METHODS: Between 2005 and 2009, a total of 51 children with CDH were treated at Astrid Lindgren Children's Hospital. The survival rate at discharge was 86% and long-term survival rate 80%. One parent each of the long-term survivors (41 children) was included in the present study, and 34 parents (83%) agreed to participate. Participants received the Swedish Parenthood Stress Questionnaire (SPSQ)...
May 19, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28512408/cytoreductive-surgery-followed-by-hyperthermic-intraperitoneal-chemotherapy-for-recurrent-ovarian-cancer-with-incidental-bochdalek-hernia-and-postoperative-bilateral-thalamic-infarct-a-case-report
#4
Ilker Kahramanoglu, Hasan Turan, Ece Yamak Altinpulluk, Zahid Mammadov, Tugan Bese, Macit Arvas, Fuat Demirkiran
Congenital Bochdalek hernia is a defect of the diaphragm and very rare in adults. Only around 100 cases have been reported in the literature. Herein, we present a case with a recurrent ovarian cancer who underwent secondary cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. An oval defect with dimensions of 3 × 4 cm was seen in the left posterolateral site of the diaphragm during surgical exploration. In addition, a 6 × 3 cm iatrogenic right-sided diaphragmatic defect was found and repaired...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28500579/robotic-repair-of-a-right-sided-bochdalek-hernia-a-case-report-and-literature-review
#5
Amani Jambhekar, Shawn Robinson, Brian Housman, James Nguyen, Kevin Gu, Vadim Nakhamiyayev
BACKGROUND: Bochdalek hernias (BHs) are usually diagnosed in the neonatal period, occurring in 1/2200-1/12,500 live births. There are few reported cases of BHs in adults. Robotic repair has not been described in current literature as opposed to the laparoscopic approach. Here we present a case of an adult with clinical signs of bowel obstruction secondary to a BH which was repaired using a robotic approach. CASE REPORT: A 74-year-old gentleman with past medical history of benign prostatic hyperplasia presented to the emergency department with a 1-week history of nausea, vomiting, diarrhea, and decline in appetite...
May 12, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/28497001/klinefelter-syndrome-in-association-with-tetralogy-of-fallot-and-congenital-diaphragmatic-hernia
#6
Sethuraman Swaminathan, Sudheer R Gorla, Deborah S Barbouth
Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications other than the additional X-chromosome, to account for the additional abnormalities in this infant. To the authors' knowledge, this is the first such report of major cardiac and diaphragm anomaly occurring together, in an infant with KS...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496996/anterior-abdominal-wall-defects-diaphragmatic-hernia-and-other-major-congenital-malformations-of-the-musculoskeletal-system-in-barbados-1993-2012
#7
Keerti Singh, Alok Kumar
This study describes the prevalence and patterns of major congenital malformations of the musculoskeletal system and the resulting morbidity and mortality. It is a retrospective population-based study over the period 1993 to 2012. The overall prevalence of major congenital malformations of the musculoskeletal system was 9.02/10,000 live births. The prevalences of omphalocele, gastroschisis, and diaphragmatic hernia were 2.53, 2.22, and 1.42 per 10,000 live births, respectively. The case fatality ratio for the omphalocele, gastroschisis, and diaphragmatic hernia was 12...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28492159/iloprost-instillation-in-two-neonates-with-pulmonary-hypertension
#8
Sezin Unal, Selma Aktas, Meltem Aksu, Ibrahim M Hirfanoglu, Yildiz Atalay, Canan Turkyilmaz
Pulmonary hypertension may coexist with certain diseases in neonates. Iloprost inhalation is one of the treatments which cause selective pulmonary vasodilatation. Inhalation is not an easy way of drug administration in mechanically ventilated infants; as some exhibit desaturations during inhalation. Moreover, inhalation of drug requires cessation of mechanical ventilation, if patient is on high frequency oscillatory ventilation. We presented two patients with pulmonary hypertension; term baby with congenital diaphragmatic hernia and preterm baby with respiratory distress syndrome; who had iloprost instillation during mechanical ventilation treatment...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28489671/closer-look-at-the-nutritional-outcomes-of-patients-after-primary-repair-of-congenital-diaphragmatic-hernia
#9
Lan T Vu, Carrie McFarland, Barbara Bratton, Hanmin Lee
OBJECTIVES: We hypothesize that the patients after primary repair of congenital diaphragmatic hernia (CDH) can have poor nutritional outcomes and plan to identify risk factors to further stratify these patients. METHODS: Retrospective cohort of patients who had primary repair of CDH between 2000 and 2014 and had follow-up at our institution. Z-scores (weight for age and weight for length) were calculated using the WHO and CDC growth standards. RESULTS: For the 67 patients in the cohort, the median age at the time of repair was 3 days (IQR 2-5) and at the time of discharge was 20...
May 9, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28489314/unclassifiable-pattern-of-hypopigmentation-in-a-patient-with-mosaic-partial-12p-tetrasomy-without-pallister-killian-syndrome
#10
Viola Alesi, Maria L Dentici, Fabrizia Restaldi, Valeria Orlando, Maria T Liambo, Chiara Calacci, Rossella Capolino, Maria C Digilio, May El Hachem, Antonio Novelli, Andrea Diociaiuti, Bruno Dallapiccola
Pallister-Killian syndrome (PKS-#OMIM601803) is a multisystem developmental disorder typically due to the presence of an aneuploidy cell line, consisting of a supernumerary tetrasomic chromosomal marker (SCM) arisen from the short arm of chromosome 12 (12p isochromosome). The clinical phenotype, which is strictly related to the percentage and tissue distribution of aneuploid cells, is characterized by craniofacial dysmorphisms, pigmentary skin anomalies, limb shortening, congenital heart defects, diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28481127/fetal-cardiac-impairment-in-nitrofen-induced-congenital-diaphragmatic-hernia-postmortem-microcomputed-tomography-imaging-study
#11
Gloria Pelizzo, Valeria Calcaterra, Claudio Lombardi, Rossana Bussani, Vanessa Zambelli, Annalisa De Silvestri, Ana Custrin, Manuel Belgrano, Floriana Zennaro
INTRODUCTION: We assessed the post-mortem micro-CT utility to evaluate fetal cardiac impairment in nitrofen-induced congenital diaphragmatic hernia (CDH). METHODS: At 9.5d postconception (dpc), pregnant rats were exposed to nitrofen. At +18 and +21dpc, fetuses were harvested by cesarean section. Postmortem micro-CT and autopsy were performed. Fetuses were assigned to three experimental groups: Control group (C), Nitrofen group (N, exposition to nitrofen without CDH), CDH group...
May 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28475684/the-use-of-extracorporeal-membrane-oxygenation-in-neonates-with-severe-congenital-diaphragmatic-hernia-a-26-year-experience-from-a-tertiary-centre%C3%A2
#12
Ricky Vaja, Ahmed Bakr, Annabel Sharkey, Vijay Joshi, Gail Faulkner, Claire Westrope, Chris Harvey
OBJECTIVES: Neonates with severe congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation (ECMO) have a high rate of mortality. There is controversy regarding optimal time of surgical intervention. We present our data over a 26-year period. METHODS: We analysed data from our Extracorporeal Life Support Organization registry forms between 1989 and 2015, in order to determine the factors affecting survival outcome for repair of congenital diaphragmatic hernia with ECMO as a bridge to surgery and/or recovery...
May 5, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28461805/repair-of-intrapericardial-diaphragmatic-hernia-during-aortic-surgery-in-a-78-year-old-woman
#13
Konstantinos Spiliotopoulos, Kim I de la Cruz, Georgios Gkotsis, Ourania Preventza, Joseph S Coselli
Intrapericardial diaphragmatic hernias are reported very rarely. Those of congenital origin are most often diagnosed in neonates, and those caused by indirect blunt trauma occur chiefly in adults. The latter type can be asymptomatic; however, the results of a computed tomographic scan can yield a definitive diagnosis. Once discovered, these hernias should be corrected to avoid severe sequelae such as bowel strangulation and necrosis, peritonitis, mediastinitis, and cardiac tamponade. We report the case of a 78-year-old woman who presented for elective ascending aortic aneurysm repair...
April 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28453882/the-validity-of-the-observed-to-expected-lung-to-head-ratio-in-congenital-diaphragmatic-hernia-in-an-era-of-standardized-neonatal-treatment-a-multicenter-study
#14
Kitty G Snoek, Nina C J Peters, Joost van Rosmalen, Arno F J van Heijst, Alex J Eggink, Esther Sikkel, René M Wijnen, Hanneke IJsselstijn, Titia E Cohen-Overbeek, Dick Tibboel
OBJECTIVE: To assess the predictive value of observed-to-expected lung-to-head ratio (O/E LHR) for survival and chronic lung disease (CLD) in survivors of left-sided congenital diaphragmatic hernia (CDH) in an era of standardized neonatal treatment, and to evaluate the predictive value of the O/E LHR trajectory for survival. METHODS: This retrospective cohort study was performed in two high-volume CDH centers in the Netherlands in prenatally detected, isolated left-sided CDH patients born between 2008-2014...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453870/clinically-relevant-discordances-identified-after-tertiary-reassessment-of-fetuses-with-isolated-congenital-diaphragmatic-hernia
#15
Elisa Done, Leonardo Gucciardo, Tim Van Mieghem, Koen Devriendt, Karel Allegaert, Paul Brady, Roland Devlieger, Luc De Catte, Liesbeth Lewi, Jan Deprest
OBJECTIVE: Fetoscopic Endoluminal Tracheal Occlusion (FETO) may improve outcome of severe isolated Congenital Diaphragmatic Hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following counseling for fetal surgery. DESIGN: Single centre retrospective study on patients with presumed iCDH either referred for assessment and counseling or referred for fetal surgery...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28444651/-mri-based-ratio-of-fetal-lung-to-body-volume-as-new-prognostic-marker-for-chronic-lung-disease-in-patients-with-congenital-diaphragmatic-hernia
#16
Melissa M Winkler, Meike Weis, Claudia Henzler, Christel Weiß, Sven Kehl, Stefan O Schoenberg, Wolfgang Neff, Thomas Schaible
Background Our aim was to evaluate the prognostic value of magnetic resonance imaging (MRI)-based ratio of fetal lung volume (FLV) to fetal body volume (FBV) as a marker for development of chronic lung disease (CLD) in fetuses with congenital diaphragmatic hernia (CDH). Patients and Methods FLV and FBV were measured and the individual FLV/FBV ratio was calculated in 132 fetuses. Diagnosis of CLD was established following prespecified criteria and graded into mild/moderate/severe if present. Logistic regression analysis was used to calculate the probability of postnatal development of CLD in dependence of the FLV/FBV ratio...
March 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28442844/a-rare-case-of-bilateral-morgagni-s-hernia-with-intestinal-obstruction-and-malrotation-of-the-gut-in-an-adult-patient-with-severe-osteogenesis-imperfecta-presenting-as-severe-respiratory-distress
#17
S Y Kulgod, Amit Shivashankar Ammanagi, Pradeep Vagarali, Ravi Patil
Osteogenesis imperfecta (OI) is associated with congenital inguinal hernia that can occur due to genetic mutation. Morgagni's hernia is a rare congenital diaphragmatic herniation and is usually diagnosed in childhood. We present a case of an 18-year-old male presenting with bilateral Morgagni's hernia with intestinal obstruction with osteogenesis imperfecta with malrotation of the gut.
April 2017: Indian Journal of Surgery
https://www.readbyqxmd.com/read/28410786/the-use-of-ecmo-for-gastroschisis-and-omphalocele-two-decades-of-experience
#18
Joanne E Baerg, Arul Thirumoorthi, Andrew O Hopper, Edward P Tagge
PURPOSE: The aim was to review the respiratory failure causes and outcomes of infants with omphalocele or gastroschisis receiving ECMO and reported to the Extracorporeal Life Support Organization (ELSO). METHODS: Gastroschisis and omphalocele infants supported with ECMO and reported to the ELSO Registry between 1992 and 2015 were retrospectively reviewed. Clinical variables, diagnosis of respiratory failure (pulmonary hypertension (PHN), congenital heart defects (CHD), congenital diaphragmatic hernia (CDH), and sepsis), and outcomes were recorded...
March 16, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28399114/lung-hypoplasia-in-newborn-rabbits-with-a-diaphragmatic-hernia-affects-pulmonary-ventilation-but-not-perfusion
#19
Andreas W Flemmer, Marta Thio, Megan J Wallace, Katie Lee, K Marcus J Kitchen, Lauren Kerr, Charles C Roehr, Andreas Fouras, Richard Carnibella, Jaccques J Jani, Philip DeKoninck, Arjan B tePas, James T Pearson, Stuart B Hooper
BACKGROUND: A congenital diaphragmatic hernia can result in severe lung hypoplasia that increases the risk of morbidity and mortality after birth, but little is known about the cardiorespiratory transition at birth. METHODS: Using phase contrast X-ray imaging and angiography, we examined the cardiorespiratory transition at birth in rabbit kittens with diaphragmatic hernias (DH). Surgery was performed on pregnant New Zealand white rabbits (n=18) at 25 days gestation to induce a left-sided DH...
April 11, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28398654/survival-disparities-associated-with-congenital-diaphragmatic-hernia
#20
Cynthia F Hinton, Csaba Siffel, Adolfo Correa, Stuart K Shapira
BACKGROUND: We assessed sociodemographic and clinical factors that are associated with survival among infants with congenital diaphragmatic hernia (CDH). METHODS: Using data from the Metropolitan Atlanta Congenital Defects Program, we ascertained 150 infants born with CDH between 1979 and 2003 and followed via linkage with state vital records and the National Death Index. Kaplan-Meier survival probabilities and adjusted hazard ratios (HRs) were calculated for socioeconomic and clinical characteristics...
April 10, 2017: Birth Defects Res
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