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https://www.readbyqxmd.com/read/29188610/-genetic-analysis-of-two-pediatric-patients-with-beckwith-wiedemann-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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-in-congenital-diaphragmatic-hernia-and-abdominal-wall-defects-does-not-reduce-the-risk-of-future-volvulus
#9
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...
September 5, 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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28904658/prenatal-diagnosis-of-caudal-regression-syndrome-and-omphalocele-in-a-fetus-of-a-diabetic-mother
#13
Haifa Bouchahda, Houda El Mhabrech, Hechmi Ben Hamouda, Sobhi Ghanmi, Rim Bouchahda, Habib Soua
The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28892921/a-rare-case-of-genital-malformation-with-omphalocele-exstrophy-of-bladder-imperforate-anus-and-spinal-defect-complex-autopsy-findings
#14
K Mamatha, B R Yelikar, Varsha R Deshpande, B S Disha
Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4(th) week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28890277/-prenatal-diagnosis-of-abdominal-wall-defects
#15
H El Mhabrech, H Ben Hmida, H Charfi, A Zrig, C Hafsa
Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects...
October 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28879321/perioperative-airway-management-of-a-patient-with-beckwith-wiedemann-syndrome
#16
Masanori Tsukamoto, Takashi Hitosugi, Takeshi Yokoyama
Airway obstruction in pediatric patients always poses a challenge for anesthesiologists. Beckwith-Wiedemann syndrome causes various abnormalities such as macroglossia and omphalocele. Patients with these abnormalities often need corrective surgeries. Management of difficult airway caused by conditions such as macroglossia in patients with this syndrome could be challenging. We encountered a case of difficult airway in an infant with Beckwith-Wiedemann syndrome. It was predicted that macroglossia might cause difficult ventilation, intubation, and extubation...
December 2016: Journal of Dental Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/28876575/neonatal-surgery-a-study-of-two-years-at-nelson-mandela-academic-hospital-mthatha-eastern-cape
#17
A Delgado, A Cejas, D Bangasa
BACKGROUND: Advances in diagnostic techniques and perioperative care have greatly improved the outcome of neonatal surgery. Despite this, disparity still exists in the outcome of neonatal surgery between developed and developing countries. METHOD: We performed a prospective study of neonates admitted and treated due to surgical congenital diseases and other conditions in our hospital from April 2015 to April 2017. RESULTS: There were 19 (28,7%) females and 47 (70,3%) males in this group...
September 2017: South African Journal of Surgery. Suid-Afrikaanse Tydskrif Vir Chirurgie
https://www.readbyqxmd.com/read/28864023/clinicoplacental-correlates-of-amniocyte-vacuolization-in-association-with-gastroschisis
#18
Monique E De Paepe, Quanfu Mao, Sharon Chu, Yuqi Zhang, François I Luks
INTRODUCTION/OBJECTIVES: Gastroschisis has been associated with a characteristic type of amniocyte vacuolization. In this study, we determined the frequency and clinicoplacental correlates of this apparently unique alteration of the amniotic epithelium. METHODS: We performed a retrospective clinicopathologic analysis of 74 consecutive cases of isolated gastroschisis. Placental membrane sections were reviewed for presence and extent of amniocyte vacuolization, and immunostained for adipophilin, a lipid droplet-associated protein...
September 2017: Placenta
https://www.readbyqxmd.com/read/28810634/misdiagnosis-of-a-cloacal-exstrophy-variant-as-urorectal-septum-malformation-in-a-fetus-by-ultrasound-a-case-report
#19
Yang-Qing Xu, Xiao-Hong Yang, Xin-Lin Chen, Xiu-Qiin Ji, Sheng Zhao
Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28794915/occurrence-of-synpolydactyly-and-omphalocele-in-a-fetus-with-a-hoxd13-mutation
#20
Periyasamy Radhakrishnan, Shalini S Nayak, Muralidhar V Pai, Anju Shukla, Katta M Girisha
Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13 . It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. The mother has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele in addition to SPD that is an association not reported to date...
September 2017: Journal of Pediatric Genetics
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