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omphalocele

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https://www.readbyqxmd.com/read/28966009/preemptive-ladd-in-congenital-diaphragmatic-hernia-and-abdominal-wall-defects-does-not-reduce-the-risk-of-future-volvulus
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
September 7, 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
#8
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: J Dent Anesth Pain Med
https://www.readbyqxmd.com/read/28876575/neonatal-surgery-a-study-of-two-years-at-nelson-mandela-academic-hospital-mthatha-eastern-cape
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28792430/component-separation-technique-for-repair-of-massive-abdominal-wall-defects-at-a-pediatric-hospital
#13
James D Vargo, Michael T Larsen, Gregory D Pearson
BACKGROUND: Massive defects of the abdominal wall are commonly repaired with the component separation technique (CST) when insufficient tissue exists to close the defect primarily. Although the utility of CST has been documented in cases of large ventral hernias in adults, its application to congenital and acquired defects in pediatric patients has been largely unreported. This study is a retrospective case series discussing the success of CST at a large pediatric hospital. METHODS: Seven patients with massive abdominal wall defects, including ventral hernia and omphalocele, repaired with CST at a pediatric hospital were identified as candidates...
November 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28790097/rare-combination-of-left-sided-congenital-diaphragmatic-hernia-and-omphalocele
#14
Yuet Yee Chee, Siu Chun Mabel Wong, Ming Sum Rosanna Wong
We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension. As the combination of CDH and omphalocele is rare and with the abdominal content herniating into the omphalocele instead of the thorax, antenatal diagnosis of such condition can be difficult...
August 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#15
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#16
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28704835/high-prevalence-of-pulmonary-hypertension-complicates-the-care-of-infants-with-omphalocele
#17
Shandee Hutson, Joanne Baerg, Douglas Deming, Shawn D St Peter, Andrew Hopper, Donna A Goff
BACKGROUND: Omphalocele is one of the most common abdominal wall defects. Many newborn infants born with omphalocele present with significant respiratory distress at birth, requiring mechanical ventilatory support, and have clinical evidence of pulmonary hypertension. Little information exists on the prevalence of and risk factors associated with pulmonary hypertension in this cohort of infants. OBJECTIVES: To describe the prevalence of and risk factors associated with pulmonary hypertension among infants with omphalocele...
2017: Neonatology
https://www.readbyqxmd.com/read/28688895/differential-requirement-of-sufu-in-tissue-development-discovered-in-a-hypomorphic-mouse-model
#18
Maria A Hoelzl, Karin Heby-Henricson, Marco Gerling, José M Dias, Raoul V Kuiper, Cornelius Trünkle, Åsa Bergström, Johan Ericson, Rune Toftgård, Stephan Teglund
Suppressor of Fused (SUFU) is an essential negative regulator of the Hedgehog (HH) pathway and involved in GLI transcription factor regulation. Due to early embryonic lethality of Sufu(-/-) mice, investigations of SUFU's role later in development are limited to conditional, tissue-specific knockout models. In this study we developed a mouse model (Sufu(Ex456(fl)/Ex456(fl))) with hypomorphic features where embryos were viable up to E18.5, although with a spectrum of developmental defects of varying severity, including polydactyly, exencephaly and omphalocele...
September 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28686315/pentalogy-of-cantrell-in-a-monozygotic-twin-with-a-giant-omphalocele-firmly-attached-to-the-amniotic-membrane-successful-prenatal-diagnosis-and-cesarean-delivery
#19
Tomonobu Kanasugi, Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama
No abstract text is available yet for this article.
July 7, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28652674/evolution-of-ventricular-outpouching-through-the-fetal-and-postnatal-periods-unabating-dilemma-of-serial-observation-or-surgical-correction
#20
REVIEW
Niraj Kumar Dipak, Sumitra Venkatesh, Shakuntala Prabhu, Sudha Rao
Ventricular outpouching is a rare finding in prenatal sonography and the main differential diagnoses are diverticulum, aneurysm, and pseudoaneurysm in addition to congenital cysts and clefts. The various modes of fetal presentation of congenital ventricular outpouching include an abnormal four-chamber view on fetal two-dimensional echocardiogram, fetal arrhythmia, fetal hydrops, and pericardial effusion. Left ventricular aneurysm (LVA)/nonapical diverticula are usually isolated defects. Apical diverticula are always associated with midline thoracoabdominal defects (epigastric pulsating diverticulum or large omphalocele) and other structural malformations of the heart...
July 2017: Journal of the Saudi Heart Association
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