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Olivier Boucherat, Kim Landry-Truchon, Rifdat Aoidi, Nicolas Houde, Valérie Nadeau, Jean Charron, Lucie Jeannotte
BACKGROUND: Reciprocal epithelial-mesenchymal communications are critical throughout lung development, dictating branching morphogenesis and cell specification. Numerous signaling molecules are involved in these interactions but how epithelial-mesenchymal crosstalk is coordinated remains unclear. The ERK/MAPK pathway transduces several important signals in lung formation. Epithelial inactivation of both Mek genes, encoding ERK/MAPK kinases, causes lung agenesis and death. Conversely, Mek mutation in mesenchyme results in lung hypoplasia, trachea cartilage malformations, kyphosis, omphalocele and death...
October 17, 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
Ricardo P J Budde, Nanko de Graaf, Rene M Wijnen, Ingrid M van Beynum
No abstract text is available yet for this article.
September 27, 2016: Journal of Cardiovascular Computed Tomography
Carmen C Tong, Kelly A Duffy, David I Chu, Dana A Weiss, Arun K Srinivasan, Douglas A Canning, Jennifer M Kalish
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder with various congenital anomalies. Although the most classic constellation includes macrosomia, macroglossia, and omphalocele, nephrourological findings are commonly associated with BWS. Clinical presentation is highly variable because of its complex molecular heterogeneity, which involves changes in DNA methylation and disruption of growth regulatory genes. We report 3 pediatric patients, ages 13 months to 3 years old, who presented with clinical features consistent with BWS...
September 7, 2016: Urology
Usha D Nagaraj, Karin S Bierbrauer, Jose L Peiro, Beth M Kline-Fath
OBJECTIVE: The purpose of this study is to identify differences in findings between open and closed spinal dysraphisms seen on fetal MR images. MATERIALS AND METHODS: A single-institution retrospective analysis of fetal MR images for spinal dysraphism was performed. Postnatal images and clinical and operative reports were reviewed. RESULTS: Sixteen fetuses with postnatally confirmed closed spinal dysraphisms were included. Of these, 25% (4/16) had posterior fossa anomalies, 12...
September 9, 2016: AJR. American Journal of Roentgenology
Brent Bauman, Daniel Stephens, Hannah Gershone, Connie Bongiorno, Erin Osterholm, Robert Acton, Donavon Hess, Daniel Saltzman, Bradley Segura
PURPOSE: Despite the numerous methods of closure for giant omphaloceles, uncertainty persists regarding the most effective option. Our purpose was to review the literature to clarify the current methods being used and to determine superiority of either staged surgical procedures or nonoperative delayed closure in order to recommend a standard of care for the management of the giant omphalocele. METHODS: Our initial database search resulted in 378 articles. After de-duplification and review, we requested 32 articles relevant to our topic that partially met our inclusion criteria...
October 2016: Journal of Pediatric Surgery
A Binet, E Supply, S De Napoli Cocci, M De Cornulier, H Lardy, A Le Touze
OBJECTIVE: According to major difficulty for the giant omphalocele management in the visceral reintegration and the parietal closure, many teams use currently conservative treatment by topical application. These techniques are suppliers of a covered eventration and a scar sequela requiring a complementary treatment. We report the place of the tissue expansion as complementary treatment. PATIENTS AND METHODS: Two patients with a giant omphalocele benefited from a protocol of cutaneous expansion for the correction of their abdominal scar±of their residual eventration...
August 25, 2016: Annales de Chirurgie Plastique et Esthétique
Heron Werner, Carolina Mocarzel, Renato Augusto Sá, Gabriele Tonni, Victoria Arruga Novoa Y Novoa, Elyzabeth Avvad-Portari, Paola Bonasoni, Edward Araujo Júnior
We describe the first case of prenatally detected teratoma of the fetal abdomen wall using ultrasound and fetal magnetic resonance imaging (MRI). A heterogeneous mass, partly solid and cystic, originating from the anterior abdominal wall of the fetus close to an omphalocele sac was detected by means of 2D/3D ultrasound and MRI. Amniodrainage was performed and due to sign of impending fetal risk, an emergency Cesarean section was performed. A bulky, crumbly and bleeding tumoral mass was confirmed at delivery...
August 25, 2016: Fetal and Pediatric Pathology
Sonali Malhotra, Shilpa Kumta, Alok Bhutada, Elka Jacobson-Dickman, Roja Motaghedi
INTRODUCTION: Neonatal thyrotoxicosis is a life-threatening condition with potentially irreversible neurologic sequelae. Most cases are seen in neonates born to mothers with Graves' disease. Topical iodine-induced hypothyroidism has been reported in neonates, but iodine-induced neonatal hyperthyroidism has not been described; albeit a familiar entity in adults. CASE DESCRIPTION: Herein we present a unique case of a neonate, born with a giant omphalocele, who was treated with topical povidone-iodine dressings to promote escharification, in preparation for delayed surgical closure...
April 2016: American Journal of Perinatology Reports
Boris Groisman, Juan Gili, Lucas Giménez, Fernando Poletta, María Paz Bidondo, Pablo Barbero, Rosa Liascovich, Jorge López-Camelo
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence...
August 19, 2016: Journal of Community Genetics
S Bremer, W Kiess, U Thome, M Knüpfer, U Bühligen, M Vogel, A Friedrich, U Janisch, A Rißmann
No abstract text is available yet for this article.
August 17, 2016: Das Gesundheitswesen
Jennifer M Kalish, Matthew A Deardorff
Beckwith-Wiedemann syndrome (BWS) is the most common imprinting disorder and consequently, one of the most common cancer predisposition disorders. Over the past 20 years, our understanding of the genetics and epigenetics leading to BWS has evolved and genotype/phenotype correlations have become readily apparent. Clinical management of these patients is focused on omphaloceles, hypoglycemia, macroglossia, hemihypertrophy, and tumor screening. Until recently, the need for tumor screening has been thought to be largely uniform across all genetic and epigenetic causes of BWS...
September 2016: American Journal of Medical Genetics. Part A
Carol Louik, Stephen Kerr, Carla M Van Bennekom, Christina Chambers, Kenneth L Jones, Michael Schatz, Allen A Mitchell
BACKGROUND: Pregnant women have higher risks of influenza complications, but vaccine coverage is incomplete. Because concern about fetal harm limits uptake, we investigated risks for preterm delivery (PTD) and specific birth defects following vaccination in the 2011-12 through 2013-14 influenza seasons. METHODS: We used data from the Slone Epidemiology Center's Birth Defects Study. For PTD, propensity score-adjusted time-varying hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated for exposure anytime in pregnancy and for each trimester...
August 17, 2016: Vaccine
R Allman, J Sousa, M W Walker, M M Laughon, A R Spitzer, R H Clark
OBJECTIVE: The purpose of this study is to evaluate recent trends in prevalence of gastroschisis among infants admitted for neonatal intensive care in the United States. STUDY DESIGN: Retrospective review of a de-identified patient data. The current study extends our observations through the end of 2007 to 2015. RESULTS: During the study period (1 January 1997 to 12 December 2015), there were 1 158 755 total discharges; 6023 (5.2/1000) had gastroschisis and 1885 (1...
October 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
Juin Yee Kong, Kee Thai Yeo, Mohamed E Abdel-Latif, Barbara Bajuk, Andrew J A Holland, Susan Adams, Ashish Jiwane, Sandra Heck, Michael Yeong, Kei Lui, Ju Lee Oei
BACKGROUND/PURPOSE: Infants with abdominal wall defects (AWD) are at risk of poor outcomes including prolonged hospitalization, infections and mortality. Our objective was to describe and compare the outcomes of infants admitted with gastroschisis and omphalocele over 18years. METHODS: Population-based study of clinical data and outcomes of live-born infants with AWD admitted to all tertiary-level neonatal intensive care units in New South Wales and Australian Capital Territory from 1992 to 2009...
October 2016: Journal of Pediatric Surgery
April L Dawson, Sarah C Tinker, Denise J Jamieson, Charlotte A Hobbs, R J Berry, Sonja A Rasmussen, Marlene Anderka, Kim M Keppler-Noreuil, Angela E Lin, Jennita Reefhuis
BACKGROUND: Twinning has been associated with many types of birth defects, although previous studies have had inconsistent findings. Many studies lack information about potential confounders, particularly use of fertility treatment. Our objective was to assess the association between twinning and birth defects in the National Birth Defects Prevention Study (NBDPS). METHODS: We used data from the NBDPS, a population-based, case-control study of major birth defects in the USA, to evaluate associations between twinning and birth defects...
June 20, 2016: Journal of Epidemiology and Community Health
Y J Blumenfeld, K E Milan, E Rubesova, K G Sylvester, A S Davis, V Y Chock, S R Hintz
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
L Jayyosi, N Boudaoud, O Okiemy, N Correia, E Alanio-Detton, J P Bory, A Liné, M L Poli-Merol, S Mazouz Dorval, C Francois
The umbilicus is our first scar. It is the last remain of our life in utero. Besides the umbilical hernia, a common pathology during the first three years of life that rarely requires surgery, there are some rare congenital abnormalities such as gastroschisis and omphalocele, which occur in about 1-5/10,000 births. Gastroschisis is a birth defect of the anterior abdominal wall, through which the fetal intestines freely protrude and are not covered by any membranes. During the 13th week prenatal ultrasound, the umbilical cord can be seen to be properly attached while the intestines float freely in the amniotic fluid...
June 8, 2016: Annales de Chirurgie Plastique et Esthétique
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Mark Robinson, Sarah Keene, Matthew T Santore, Sarah J Hill, Binita Patel, Bahig 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...
June 6, 2016: Pediatric and Developmental Pathology
Julia Kolarova, Susanne Bens, Ole Ammerpohl, Alina C Hilger, Rong Zhang, Heiko Reutter, Reiner Siebert
BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) is characterized by a spectrum of genitourinary malformations. Both classical bladder exstrophy and the most severe phenotype, exstrophy of the cloaca, display omphaloceles, a cardinal anomaly of some disorders caused by altered imprinting. Therefore, we hypothesized that BEEC in some patients could occur on the basis of an undiagnosed imprinting disorder. Such altered imprinting is associated with changes in the parent-of-origin-specific DNA methylation...
August 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
W K Lim, M C Leong, H Samion
A 1.7 kg infant with obstructed supracardiac total anomalous pulmonary venous drainage (TAPVD) presented with severe pulmonary hypertension secondary to vertical vein obstruction. The child, in addition, had a large omphalocele that was being managed conservatively. The combination of low weight, unoperated omphalocele, and severe pulmonary hypertension made corrective cardiac surgery very high-risk. Therefore, transcatheter stenting of the stenotic vertical vein, as a bridge to corrective surgery was carried out...
May 2016: Annals of Pediatric Cardiology
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