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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
#1
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/28464537/abdominal-wall-defects-in-greenland-1989-2015
#2
Merete Bugge, Gitte Drachmann, Peder Kern, Esben Budtz-Jørgensen, Hans Eiberg, Britta Olsen, Niels Tommerup, Inge-Merete Nielsen
BACKGROUND: In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). The occurrence of abdominal wall defects has never been investigated in Greenland. METHODS: The present study is based on data retrieved from three nationwide and two local registries in the Greenlandic health care system over 27 years (1989-2015)...
May 2, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28410786/the-use-of-ecmo-for-gastroschisis-and-omphalocele-two-decades-of-experience
#3
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/28398666/association-between-a-maternal-history-of-miscarriages-and-birth-defects
#4
Hebe Campaña, Monica Rittler, Juan A Gili, Fernando A Poletta, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López Camelo
BACKGROUND: Some studies, mainly in the older literature, observed a significant association between miscarriages and birth defects (BDs) occurring in the same sibship. However, few studies examined the BD/miscarriage relationship in depth. In addition nothing has been added to the underlying mechanisms possibly linking both events. The purpose of this work was to identify specific BDs associated with maternal miscarriages. In particular, it examined whether the risk depended on the number of losses, and to suggest the existence of specific factors for each BD/miscarriage association observed...
March 1, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397950/staged-closure-of-a-giant-omphalocele-with-amnion-preservation-modified-technique
#5
Akram H Aljahdali, Hussah M Al-Buainain, Erik D Skarsgard
Closure of a giant omphalocele can be challenging. Preservation of the amnion in staged closure is not commonly practiced. Here, we describe 2 cases of giant omphalocele treated with a modified amnion preservation, staged closure technique. This paper demonstrates the feasibility and safety of this technique, and the versatility of amnion to adapt to an escharization strategy if closure is not achievable.
April 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28397377/yield-of-a-12-13-week-scan-for-the-early-diagnosis-of-fetal-congenital-anomalies-in-the-cell-free-dna-era
#6
M J A Kenkhuis, M Bakker, F Bardi, F Fontanella, M K Bakker, H Fleurke-Rozema, C M Bilardo
OBJECTIVE: Aim of the study was to assess the percentage and type of anomalies (structural and chromosomal) that can be detected at an early scan performed at 12-13 weeks' gestation, as opposed to the present screening policy (20 -week scan). METHODS: Sonographers accredited for the nuchal translucency (NT) measurement were asked, after additional training, to participate into the study. The early scans were performed according to a protocol, in six ultrasound practices and 2 referral centers in the Northeast of the Netherlands...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28352500/delayed-closure-of-giant-omphaloceles-in-west-africa-report-of-five-cases
#7
Oumama El Ezzi, Raymond Bossou, Olivier Reinberg, Sabine Vasseur Maurer, Anthony de Buys Roessingh
Giant omphalocele (GO) management is controversial and not easy. Conservative management at birth and delayed surgical closure is usually mandatory. Postponed surgery may be challenging and carry the risk of intensive care treatment. We report on five children who were treated in our department for GO between 2000 and 2010. Initially, the patients were managed conservatively in West Africa. Delayed closure of the ventral hernia was performed in Switzerland after patient transfer through a nongovernmental organization...
January 2017: European Journal of Pediatric Surgery Reports
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/28271155/not-gastroschisis-or-omphalocele-or-anything-in-between-a-novel-congenital-abdominal-wall-defect
#9
Maija Cheung, Nasser Kakembo, Arlene Muzira, John Sekabira, Doruk Ozgediz
Congenital abdominal wall defects occur when normal embryonic development is interrupted and most commonly results in gastroschisis or omphalocele. Other entities, such as ruptured omphalocele, vanishing gastroschisis, and patent omphalomesenteric ducts with prolapse, have also been described and can create a confusing picture. This case of a newborn with a midline abdominal defect and a mass that was intestine-like and arose from the bowel cannot be classified, and no similar reports were found. This suggests a previously undescribed abdominal wall defect with an aberrant colonic appendage...
March 7, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28248727/interleukin-il-1-4-6-7-8-10-appearance-in-congenital-intra-abdominal-adhesions-in-children-under-1-year-of-age
#10
Anna Junga, Māra Pilmane, Zane Ābola, Olafs Volrāts
Several cytokines have been studied for their potential role in adhesion formation. Regulatory role between the cytokine pathways has not yet to be defined. This study was designed to investigate the relation between proinflammatory and anti-inflammatory cytokines in congenital intra-abdominal adhesions. Tissue samples used for research were obtained from abdominal surgery due to obstructive gut malrotation and several additional pathologies (rectal atresia without perforation, omphalocele). All tissue specimens were stained with hematoxylin and eosin and by immunohistochemistry for interleukin-1 (IL-1), IL-4, IL-6, IL-7, IL-8, and IL-10...
February 28, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28208595/congenital-malformations-in-river-buffalo-bubalus-bubalis
#11
REVIEW
Sara Albarella, Francesca Ciotola, Emanuele D'Anza, Angelo Coletta, Luigi Zicarelli, Vincenzo Peretti
The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival...
February 10, 2017: Animals: An Open Access Journal From MDPI
https://www.readbyqxmd.com/read/28203309/a-recurrent-case-of-pentalogy-of-cantrell-a-rare-case-with-sonological-findings-and-review-of-literature
#12
Srinivas M Naren Satya, Kamala Retnam Mayilvaganan, Ivvala Sai Prathyusha, Munnangi Satya Gautam, Deepthi Raidu, V N Amogh
BACKGROUND: Pentalogy of Cantrell (POC) is an extremely rare and complex congenital anomaly. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool and is indispensible in the diagnosis of POC. Despite the rarity of POC, it is imperative for a radiologist to be aware of its wide spectrum of presentation on ultrasound in first trimester of gestation. Most reported cases in literature till now have been sporadic. In this paper, we aimed to report for the first time in literature, a recurrent case of POC detected in the first trimester in a mother whose previous pregnancy also was terminated in the second trimester medically due to the ultrasound diagnosis of POC...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28196368/pericardio-amniotic-shunting-for-incomplete-pentalogy-of-cantrell
#13
Alexander C Engels, Anne Debeer, Francesca M Russo, Michael Aertsen, Katleen Aerts, Marc Miserez, Jan Deprest, Liesbeth Lewi, Roland Devlieger
A 27-year-old woman, gravida 2, para 0, presented with an incomplete Pentalogy of Cantrell with an omphalocele, diaphragmatic hernia, and a pericardial defect at 32 weeks' gestation. A large pericardial effusion compressed the lungs and had led to a reduced lung growth with an observed-to-expected total lung volume of 28% as measured by MRI. The effusion disappeared completely after the insertion of a pericardio-amniotic shunt at 33 weeks. After birth, the newborn showed no signs of pulmonary hypoplasia and underwent a surgical correction of the defect...
2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28164002/giant-omphalocele-complicated-by-postoperative-duodenal-obstruction
#14
Sunita Ojha, Shobha Parashar, Dharmil Doshi, Rajiv Kumar Bansal
Omphalocele is a congenital defect in the abdominal wall, usually treated at birth or within 1-2 years of life depending on condition of patient and size and contents of the defect. We repaired a giant omphalocele without mesh in a 9-year-old girl. She developed duodenal obstruction in the postoperative period requiring another laparotomy and duodeno-jejunostomy to bypass obstruction.
January 2017: APSP Journal of Case Reports
https://www.readbyqxmd.com/read/28150314/the-upturned-superior-mesenteric-artery-sign-for-first-trimester-detection-of-congenital-diaphragmatic-hernia-and-omphalocele
#15
Ravi Selvaraj Lakshmy, Joy Agnees, Nity Rose
OBJECTIVES: The aim of this study was to follow the course of the superior mesenteric artery (SMA) in first-trimester fetuses to predict the location of the small bowel. Its abnormal course aids in early detection of congenital diaphragmatic hernia (CDH) and assessment of the contents of omphalocele. METHODS: The SMA can be easily identified in a sagittal section of the fetus by using color Doppler sonography at the 11- to 14-week scan, and normally, it has a downward course caudally to supply the intestines...
March 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28093117/the-biological-prosthesis-is-a-viable-option-for-abdominal-wall-reconstruction-in-pediatric-high-risk-defects
#16
Osnat Zmora, Shannon L Castle, Stephanie Papillon, James E Stein
BACKGROUND: Our aim was to explore the indications for and outcome of biological prostheses to repair high risk abdominal wall defects in children. METHODS: A retrospective chart review was performed of all cases of abdominal wall reconstruction in a single institution between 2007 and 2015. Demographic and clinical variables, technique and complications were described and compared between prosthesis types. RESULTS: A total of 23 patients underwent abdominal wall reconstruction using a biological prosthesis including 17 neonates...
January 6, 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/28079045/hernia-of-the-umbilical-cord-associated-with-a-patent-omphalomesenteric-duct
#17
M Raicevic, I Filipovic, S Sindjic-Antunovic
Congenital hernia of the cord is a different type of ventral abdominal wall defect in which the bowel usually herniates into the base of normally inserted umbilical cord through a patent umbilical ring. It is rare congenital anomaly with incidence of 1 in 5000. Although it was described as a distinct entity since 1920s it is often misdiagnosed as a small omphalocele. We present an unusal case of term male newborn with umbilical cord hernia associated with patent omphalomesenteric duct. The diagnose was made after birth despite antenatal ultrasound scans and it is managed successfully with uneventful recovery...
January 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28051055/thoracic-heteropagus-conjoined-twins-associated-to-an-omphalocele-report-of-a-case-and-complete-review-of-the-literature
#18
Kotti Ahmed, Ben Dhaou Mahdi, Zitouni Hayet, Louati Hamdi, Jallouli Mohamed, Mhiri Riadh
Heteropagus twins are an extremely rare event with an incidence of 1-2 million live births that represents, sometimes, a real challenge for paediatric surgeons. The majority of cases have complete or partial duplication of the pelvis and/or lower extremities. Thoracic heteropagus conjoined twins is a rare condition in which a grossly defective foetus (the parasite) is attached to the thorax of the main foetus (the autosite). We describe a case of a parasitic heteropagus attached at the chest wall with a rare presentation of giant exomphalos on the autosite...
October 2016: African Journal of Paediatric Surgery: AJPS
https://www.readbyqxmd.com/read/28050387/alobar-holoprosencephaly-associated-with-meningomyelocoele-and-omphalocoele-an-unusual-coexistence
#19
Tejaswini Priyadarshan Waghmare, Pragati Aditya Sathe, Naina Atul Goel, Bhuvaneshwari Mahendra Kandalkar
Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees. Depending on the degree of involvement, it is classified into 4 types: Alobar, Semilobar, Lobar and Middle interhemispheric fusion variant. A male child was born to 28-year-old female at 34 weeks of gestation. The mother on antenatal follow-up was detected to have a fetus with multiple congenital anomalies on Ultrasonography (USG) done at 34weeks of gestation...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28040136/clinical-findings-and-molecular-cytogenetic-study-of-de-novo-pure-chromosome-9p-deletion-pre-and-postnatal-diagnosis
#20
Qiao-Fang Hou, Dong Wu, Yan Chu, Shi-Xiu Liao
OBJECTIVE: The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases. MATERIALS AND METHODS: A 30-year-old woman was referred to a hospital at 19(+1) weeks of gestation because of omphalocele detected in the fetus. The conventional karyotyping analysis and array comparative genomic hybridization (aCGH) were utilized for the prenatal diagnosis and genetic counseling in the fetus...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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