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https://www.readbyqxmd.com/read/29450693/the-effect-of-assisted-reproductive-technology-on-the-incidence-of-birth-defects-among-livebirths
#1
Gil Shechter-Maor, Nicholas Czuzoj-Shulman, Andrea R Spence, Haim Arie Abenhaim
PURPOSE: Our study objective is to examine the association between births conceived with assisted reproductive technology (ART) and birth defects using a large database from the United States. METHODS: Using the Centers for Disease Control and Prevention's Period-linked birth-infant death data files and fetal death database for 2011-2013, we conducted a retrospective cohort study comprised of live births that occurred in the USA during that time. Multivariate logistic regression was used to estimate the association between ART and birth defects, both overall and by specific defects...
February 15, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29416290/omphalocele-exstrophy-of-cloaca-imperforate-anus-and-spinal-defect-complex-multiple-major-reconstructive-surgeries-needed
#2
Nada Neel, Mohmoud Salem Tarabay
OEIS complex is a rare combination of serious birth defects including omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects. The aim of managements has shifted from merely providing survival to improve patient outcomes and quality of life with higher level of physical and social independence. Multiple complicated reconstructive surgeries always needed for achieving the goals of treatment. In this case report, we aimed to present our surgical approach for this rare abnormality to achieve functionally and socially acceptable outcome...
January 2018: Urology Annals
https://www.readbyqxmd.com/read/29400311/patent-omphalomesenteric-duct-with-protruding-bowels-through-a-ruptured-omphalocele
#3
Emil Mammadov
No abstract text is available yet for this article.
January 20, 2018: Balkan Medical Journal
https://www.readbyqxmd.com/read/29379239/a-rare-case-of-oeis-complex-newer-approach-to-diagnosis-of-exstrophy-bladder-by-color-doppler-and-its-differentiation-from-simple-omphalocele
#4
Kavita Aneja
The objective of this article is to present a new approach to diagnose and differentiate similar ventral masses by color Doppler. Two cases of ventral masses, a rare case of OEIS complex (Omphalocele-exstrophy-imperforate anus-spinal defects) with unusual presentation of exstrophy bladder and another of simple omphalocele, were studied by color Doppler for diagnosis and differentiation between the nature of similar masses. Ventral mass with absent bladder, normal kidneys, and normal amniotic fluid index raised the suspicion of exstrophy bladder...
October 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29348997/diagnosis-and-management-of-a-fatal-case-of-sepsis-caused-by-candida-parapsilosis-sensu-stricto-in-a-neonate-with-omphalocele
#5
Simone Santana, Tania Salci, Patricia Andriato, Patricia Bonfim-Mendonça, Silvana Caparroz-Assef, Melyssa Negri, Terezinha Svidzinski
We present a fatal case of persistent neonatal candidemia by Candida parapsilosis following omphalocele, without other anomalies. Despite an encouraging initial prognosis, after surgical correction and closure of the abdominal wall the case became difficult to treat, as in addition to the exposure of the patient to multiple risk factors for candidemia, antifungal therapy apparently was not adequate.
June 2018: Medical Mycology Case Reports
https://www.readbyqxmd.com/read/29244787/loss-of-podocalyxin-causes-a-novel-syndromic-type-of-congenital-nephrotic-syndrome
#6
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent...
December 15, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29240237/non-isolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#7
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis. METHOD: Retrospective review of three cases of SGBS type I in a single tertiary care centre...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29225990/cholecystectomy-of-an-intrahepatic-gallbladder-in-an-ectopic-pelvic-liver-a-case-report-and-review-of-the-literature
#8
Rachel Mathis, Joshua Stodghill, Timothy Shaver, George Younan
Introduction: Ectopic pelvic liver is an exceedingly rare condition usually resulting after repair of congenital abdominal wall defects. Intrahepatic gallbladder is another rare condition predisposing patients to cholelithiasis and its sequelae. We describe a cholecystectomy in a patient with an intrahepatic gallbladder in a pelvic ectopic liver. Presentation of Case: A 33-year-old woman with a history of omphalocele repair as an infant presented with signs and symptoms of symptomatic cholelithiasis and chronic cholecystitis, however, in an unusual location...
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/29188610/-genetic-analysis-of-two-pediatric-patients-with-beckwith-wiedemann-syndrome
#9
Xiaoying Li, Yuqiang Lyu, Min Gao, Xiuli Yan, Chen Meng, Kaihui Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE: To explore the genetic cause for two children with omphalocele. METHODS: The patients were examined, and the medical history of their families was collected. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to detect potential mutation in the patients. RESULTS: Loss of methylation of imprinting center 2 (IC2) at the 11p15.5 region of the maternal chromosome was detected in both children...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29160639/predictors-of-mortality-in-neonates-with-giant-omphaloceles
#10
Amulya K Saxena, Maja Raicevic
INTRODUCTION: This analysis was performed a review of giant-omphaloceles to determine the predictors of mortality. EVIDENCE ACQUISITION: Pubmed® and KoBson databases were searched for terms "giant" "omphalocele" and "mortality". Primary end points included mortality correlation with gestational age (GA), birth weight (BW), eviscerated organs, associated anomalies and management. To calculate mean and median values IBM SPSS version 23.0 was used. EVIDENCE SYNTHESIS: After de-duplication and review search revealed 42 articles of which 23 met our inclusion criteria with 396 giant-omphaloceles for this analysis...
November 21, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/29148196/umbilicus-and-its-extensive-clinical-repertoire
#11
Spencer W Beasley
The umbilicus is involved in a wide range of abnormalities in infants and children. The most severe are evident at birth and include exomphalos (omphalocele) and gastroschisis, both of which can be life-threatening but are easy to diagnose. Exomphalos is often associated with other congenital abnormalities, whereas the associated problems in gastroschisis are largely confined to the gut. Infection of the umbilicus in the neonate presents as omphalitis. The causes of a moist umbilicus following separation of the umbilical stump are multiple, from the relatively minor umbilical granuloma or ectopic bowel mucosa to the more significant patent urachus that leaks urine...
November 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29047350/sequence-variants-identification-at-the-kcnq1ot1-tss-differentially-methylated-region-in-isolated-omphalocele-cases
#12
Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo
BACKGROUND: Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated...
October 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29039168/-maternal-serum-alpha-fetoprotein-and-free-%C3%AE-hcg-of-second-trimester-for-screening-of-fetal-gastroschisis-and-omphalocele
#13
Yiming Chen, Wen Zhang, Sha Lu, Jin Mei, Hao Wang, Shan Wang, Linyuan Gu, Lidan Zhang, Xuelian Chu
OBJECTIVE: To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. METHODS: Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29038776/torsion-of-an-accessory-hepatic-lobe-with-embedded-gallbladder-in-an-11-month-old-boy
#14
Chiman Lal Thakral, Ganji Shivalingam, Faizan Manzoor Dar, Nimish Thakral
An accessory lobe of the liver is a rare entity in clinical practice which is diagnosed incidentally. Infrequently, it may present as torsion with a clinical picture of an acute abdomen, a palpable mass, and may be associated with liver function abnormalities. Many of these patients have a history of previous surgery for congenital abdominal wall defects such as omphalocele. We present an extremely rare case of torsion of an accessory hepatic lobe in an 11-month-old male patient who presented in a state of shock...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/29037343/the-prevalence-of-selected-major-birth-defects-in-the-united-states
#15
REVIEW
Russell S Kirby
Although collectively they are fairly common, birth defects receive limited attention as a group of outcomes either clinically or from a public health perspective. This article provides an overview of the prevalence, trends and selected socio-demographic risk factors for several major birth defects, including neural tube defects, cranio-facial anomalies, congenital heart defects, trisomies 13, 18, and 21, and gastroschisis and omphalocele. Attention should focus on strengthening existing registries, creating birth defects surveillance programs in states that do not have them, and standardizing registry methods so that broadly national data to monitor these trends are available...
October 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/29030926/sternal-malformations-and-anesthetic-management
#16
REVIEW
John H Nichols, Viviane G Nasr
Shamberger and Welch classify sternal malformations into four types: thoracic ectopia cordis, cervical ectopia cordis, thoraco-abdominal ectopia cordis, and cleft sternum. Cleft sternum is the most common subset, with a reported incidence of 1 in 50,000 to 100,000 live births, representing 0.15% of all anterior chest wall malformations. Acostello et al further classify cleft sternum into complete or partial (superior, medium, inferior) with a simple superior partial cleft sternum being by far the most common with an orthotopic heart, intact pericardium, and normal skin coverage...
November 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28966009/preemptive-ladd-procedure-in-congenital-diaphragmatic-hernia-and-abdominal-wall-defects-does-not-reduce-the-risk-of-future-volvulus
#17
Erin P Ward, Andrew Wang, Hari Thangarajah, David Lazar, Stephen Bickler, Timothy Fairbanks, Karen M Kling
INTRODUCTION: Patients with congenital diaphragmatic hernia (CDH), gastroschisis, and omphalocele are prone to abnormalities of intestinal rotation and thus future midgut volvulus. Controversy exists whether routine preemptive Ladd procedure in this subgroup of asymptomatic patients is of value to reduce future volvulus. METHODS: The Pediatric Health Information System (PHIS) database was queried for neonates with CDH, gastroschisis, and omphalocele between January 2009 and September 2015...
December 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28934221/stage-specific-requirement-of-platelet-derived-growth-factor-receptor-%C3%AE-in-embryonic-development
#18
Chen Qian, Carol Wing Yan Wong, Zhongluan Wu, Qiuming He, Huimin Xia, Paul Kwong Hang Tam, Kenneth Kak Yuen Wong, Vincent Chi Hang Lui
BACKGROUND: Platelet-derived growth factor receptor alpha (PDGFRα) is a cell-surface receptor tyrosine kinase for platelet-derived growth factors. Correct timing and level of Pdgfra expression is crucial for embryo development, and deletion of Pdgfra caused developmental defects of multiple endoderm and mesoderm derived structures, resulting in a complex phenotypes including orofacial cleft, spina bifida, rib deformities, and omphalocele in mice. However, it is not clear if deletion of Pdgfra at different embryonic stages differentially affects these structures...
2017: PloS One
https://www.readbyqxmd.com/read/28928917/does-omphalocele-major-undergo-spontaneous-closure
#19
Ekerete A Ekot, Victor C Emordi, David O Osifo
The early surgical management of omphalocele major in Africa predisposes neonates to surgical complications which are often worsened by the presence of associated anomalies. Conservative management using available escharotics results in early skin cover by secondary wound healing. This delays the need for fascial closure and avoids neonatal surgical risks thus improving survival. We present a case of omphalocele major that underwent spontaneous closure during conservative management with honey dressing without surgical intervention...
August 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28905502/prevalence-trends-of-selected-major-birth-defects-a-multi-state-population-based-retrospective-study-united-states-1999-to-2007
#20
Amanda M St Louis, Keewan Kim, Marilyn L Browne, Gang Liu, Rebecca F Liberman, Wendy N Nembhard, Mark A Canfield, Glenn Copeland, Jane Fornoff, Russell S Kirby
BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect...
September 14, 2017: Birth Defects Research
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