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This page shows you the latest news and research items in this category.

Anterolateral congenital diaphragmatic hernia with omphalocele: A case report and literature review
We report on a female newborn with this combination that had not been diagnosed prenatally. The patient suffered respiratory failure that persisted despite intensive care support, suggesting severe secondary pulmonary hypoplasia. Autopsy revealed the combination of an anterolateral CDH and omphalocele in the absence of other anomalies. We believe this to be the first such case to be reported in the literature. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 7, 2013 Category: Genetics & Stem Cells Authors: Michael D. Scahill, Petruska Maak, Christian Kunder, Louis P. Halamek Tags: Clinical Report Source Type: research

[Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment].
CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment. PMID: 23318894 [PubMed - in process] (Source: Salud Publica de Mexico)
Source: Salud Publica de Mexico - December 1, 2012 Category: Epidemiology Authors: Arteaga-Vázquez J, Luna-Muñoz L, Mutchinick OM Tags: Salud Publica Mex Source Type: research

Breastfeeding success in infants with giant omphalocele.
Abstract Infants born with a giant omphalocele often require multiple surgeries requiring a lengthy hospital stay. These vulnerable infants may experience a long period of being NPO (nothing by mouth), followed by slowly advancing to enteral feeds. Human milk is the ideal method of nutrition for all infants and should be used to initiate enteral feeds in infants recovering from omphalocele closure surgeries. Human milk provides immunological, nutritional, and developmental benefits for high-risk infants and may play a critical role in preventing associated morbidities often associated with infants born with giant o...
Source: Advances in Neonatal Care - December 1, 2012 Category: Nursing Authors: Spatz DL, Schmidt KJ Tags: Adv Neonatal Care Source Type: research

A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
We report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter and son had newly recognized findings of the BWS including sensorineural hearing loss and supernumerary flexion creases of the fingers. A novel mutation in CDKN1C (c.579delT; p.A193AfsX46) was found in all affected individuals and their mother. This mutation is located in the central highly polymorphic hexanucleotide repeat encodi...
Source: American Journal of Medical Genetics Part A - November 29, 2012 Category: Genetics & Stem Cells Authors: Piranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, Valeria Romanelli, Jair Tenorio, Pablo Lapunzina Tags: Clinical Report Source Type: research

Focal Dermal Hypoplasia Due to a Novel Mutation in a Boy with Klinefelter Syndrome
Abstract A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, syndactyly, right hand ectrodactyly, hypoplastic nails, omphalocele, bladder exstrophy, renal dilatation, and splayed symphysis pubis. The skin was also abnormal, with atrophic skin plaques and areas of telangiectasia along the lines of Blaschko. The karyotype was 47,XXY (Klinefelter syndrome). He was found to have a heterozygous mutation in the PORCN gene. He exhibited the classical features of focal dermal hypoplasia. Fewer than 15% of reported cases are male when it is thought to be due to postzygotic mutation and ...
Source: Pediatric Dermatology - November 7, 2012 Category: Dermatology Authors: Said Alkindi, Malcolm Battin, Salim Aftimos, Diana Purvis Tags: Case Report Source Type: research

Disturbance of SHH signalling pathway during early embryogenesis in the cadmium-induced omphalocele chick model
Conclusion Disturbance of the SHH signalling pathway as evidenced by SHH, PTCH and SMO downregulation during the narrow window of early embryogenesis may result in somite maldevelopment, contributing to the omphalocele phenotype in the Cd chick model. Content Type Journal ArticleCategory Original ArticlePages 1-6DOI 10.1007/s00383-012-3193-4Authors Naho Fujiwara, The National Children’s Research Centre, Our Lady’s Children Hospital, Dublin 12, IrelandJohannes Duess, The National Children’s Research Centre, Our Lady’s Children Hospital, Dublin 12, IrelandPrem Puri, The National Children’s Re...
Source: Pediatric Surgery International - November 3, 2012 Category: Surgery Tags: Pediatric Surgery International Source Type: research

ROCK inhibitor (Y-27632) disrupts somitogenesis in chick embryos
Conclusion Our study provides evidence that ROCK inhibitor results in the disruption of normal somitogenesis in chick embryos which may contribute to the failure of fusion of the anterior abdominal wall causing VBWD. Content Type Journal ArticleCategory Original ArticlePages 1-6DOI 10.1007/s00383-012-3202-7Authors Johannes W. Duess, National Children’s Research Centre, Our Lady’s Children’s Hospital, Dublin, IrelandNaho Fujiwara, National Children’s Research Centre, Our Lady’s Children’s Hospital, Dublin, IrelandNicolae Corcionivoschi, National Children’s Research Centre, Our Lady’s C...
Source: Pediatric Surgery International - November 2, 2012 Category: Surgery Tags: Pediatric Surgery International Source Type: research

Assessment of early pulmonary function abnormalities in giant omphalocele survivors
Conclusions: Abnormalities of pulmonary function in GO survivors include lung volume restriction without airway obstruction, an increased likelihood of airway hyperresponsivness, and reduced respiratory system specific compliance. Early recognition of pulmonary functional impairment in GO survivors could help to develop targeted treatment strategies to reduce the risk of subsequent pulmonary morbidity. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - October 1, 2012 Category: Surgery Authors: Enrico Danzer, Holly L. Hedrick, Natalie E. Rintoul, Jennifer Siegle, N. Scott Adzick, Howard B. Panitch Tags: Original Articles Source Type: research

Muscle Patterning in Mouse and Human Abdominal Wall Development and Omphalocele Specimens of Humans
Abstract Human omphalocele is a congenital defect of the abdominal wall in which the secondary abdominal wall structures (muscle and connective tissue) in an area centered around the umbilicus are replaced by a translucent membranous layer of tissue. Histological examination of omphalocele development and moreover the staging of normal human abdominal wall development has never been described. We hypothesized that omphalocele is the result of an arrest in the secondary abdominal wall development and predicted that we would observe delays in myoblast maturation and an arrest in secondary abdominal wall development. To look ...
Source: The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology - September 14, 2012 Category: Molecular Biology Authors: Peter F. Nichol, Robert F. Corliss, Shigehito Yamada, Kohei Shiota, Yukio Saijoh Tags: Full Length Article Source Type: research

Muscle Patterning in Mouse and Human Abdominal Wall Development and Omphalocele Specimens of Humans.
Abstract Human omphalocele is a congenital defect of the abdominal wall in which the secondary abdominal wall structures (muscle and connective tissue) in an area centered around the umbilicus are replaced by a translucent membranous layer of tissue. Histological examination of omphalocele development and moreover the staging of normal human abdominal wall development has never been described. We hypothesized that omphalocele is the result of an arrest in the secondary abdominal wall development and predicted that we would observe delays in myoblast maturation and an arrest in secondary abdominal wall development. ...
Source: Anatomical Record - September 14, 2012 Category: Anatomy Authors: Nichol PF, Corliss RF, Yamada S, Shiota K, Saijoh Y Tags: Anat Rec (Hoboken) Source Type: research

Prenatal findings of omphalocele–exstrophy of the bladder–imperforate anus–spinal defects (OEIS) complex
We report two cases of OEIS complex diagnosed prenatally by ultrasound and magnetic resonance imaging (MRI). In both cases, OEIS complex was suspected by conventional sonography in the second trimester, and fetal MRI was performed at 27 and 32 weeks of gestation. Conventional sonography revealed low abdominal wall mass, spina bifida, absent bladder and ambiguous genitalia, but those findings were inconclusive. Using fetal MRI, we were able to detect omphalocele, imfraumbilical mass connected to gut tract, absent bladder, ambiguous external genitalia and spinal defect. Our findings suggest that fetal MRI is a useful tool fo...
Source: Congenital Anomalies - August 27, 2012 Category: Genetics & Stem Cells Authors: Shinobu Goto, Nobuhiro Suzumori, Shintaro Obayashi, Eita Mizutani, Yuko Hayashi, Mayumi Sugiura‐Ogasawara Tags: Case Report Source Type: research

Prenatal counseling for cloaca and cloacal exstrophy—challenges faced by pediatric surgeons
Conclusion The continuous technologic innovations in prenatal imaging make it possible to prenatally diagnose more complex anomalies including cloaca and cloacal exstrophy with increased levels of confidence and enhance the benefit of prenatal counseling. Together, these allow the parents to be better prepared for the condition and the care team to provide the best possible initial management in order to improve the outcomes of these challenging patients. Content Type Journal ArticleCategory Original ArticlePages 781-788DOI 10.1007/s00383-012-3133-3Authors Andrea Bischoff, Colorectal Center for Chi...
Source: Pediatric Surgery International - August 9, 2012 Category: Surgery Tags: Pediatric Surgery International Source Type: research

Three- and four-dimensional HDlive rendering images of normal and abnormal fetuses: pictorial essay
Conclusion 3D/4D HDlive rendering images seem to be more readily discernible than those obtained by conventional 3D/4D sonography. 3D/4D HDlive may be an important modality in future embryonic research, fetal neurobehavioral assessment, and the evaluation of fetal anomalies. Content Type Journal ArticleCategory Maternal-Fetal MedicinePages 1-5DOI 10.1007/s00404-012-2505-1Authors Toshiyuki Hata, Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, Kagawa 761-0793, JapanUiko Hanaoka, Department of Perinatology and Gynecology, Kagawa University School o...
Source: Archives of Gynecology and Obstetrics - August 7, 2012 Category: OBGYN Tags: Archives of Gynecology and Obstetrics Source Type: research

Delayed primary repair of giant omphalocele: anesthesia challenges.
PMID: 22834470 [PubMed - in process] (Source: Paediatric Anaesthesia)
Source: Paediatric Anaesthesia - August 5, 2012 Category: Anesthesiology Authors: Mhamane R, Dave N, Garasia M Tags: Paediatr Anaesth Source Type: research

Chest mass in a 13-year-old boy
A previously healthy 13-year-old boy was referred to the pulmonary clinic for evaluation for persistent cough and opacity on chest x-ray after treatment with three different antibiotics. The physical examination was unremarkable and chest x-ray showed opacity (figure 1A) with homogeneous density and sharp margins. Lateral view (figure 1B) suggested that it was anterior to the heart. Chest CT (figure 1C) confirmed anterior position with well-defined margins and no involvement of lung parenchyma. Coronal reverse image (figure 1D) showed a defect in the diaphragm from which abdominal omental fat was seen herniating into the t...
Source: Archives of Disease in Childhood - August 1, 2012 Category: Pediatrics Authors: Guglani, L., Broyles, J., Gaines, B. A., Finder, J. D. Tags: Miscellanea Source Type: research

Delayed primary repair of giant omphalocele: anesthesia challenges
(Source: Pediatric Anesthesia)
Source: Pediatric Anesthesia - July 27, 2012 Category: Anesthesiology Authors: Rameshwar Mhamane, Nandini Dave, Madhu Garasia Tags: CORRESPONDENCE Source Type: research

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: Case report
DiscussionaCGH revealed an ~ 6 Mb deletion in 2q22.1 to 2q22.3 in an as-yet unique clinical caseassociated with intellectual disability, congenital malformations and autism spectrumdisorder. Interestingly, the deletion is co-localized with a fragile site (FRA2K), which couldbe involved in the formation of this chromosomal aberration. Further studies are needed todetermine if deletions of 2q22.1 to 2q22.3 define a new microdeletion syndrome. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 11, 2012 Category: Molecular Biology Authors: Milene Vianna MulatinhoCassio Luiz de Carvalho SeraoFernanda ScalcoDavid HardekopfSona PekovaKristin MrasekThomas LiehrAnja WeiseNagesh RaoJuan Clinton Llerena Source Type: research

Eya1 and Eya2 gene expression is down-regulated during somitic myogenesis in the cadmium-induced omphalocele chick model
Conclusion: Down-regulation of Eya genes during the critical period of early embryogenesis may contribute to omphalocele phenotype in the Cd chick model, interfering with migration of embryonic body wall ventrally. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - June 1, 2012 Category: Surgery Authors: Takashi Doi, Prem Puri, John Bannigan, Jennifer Thompson Tags: AAP Papers Source Type: research

Advances in Surgery for Abdominal Wall Defects: Gastroschisis and Omphalocele
Abdominal wall defects (AWDs) are a common congenital surgical problem in fetuses and neonates. The incidence of these defects has steadily increased over the past few decades due to rising numbers of gastroschisis. Most of these anomalies are diagnosed prenatally and then managed at a center with available pediatric surgical, neonatology, and high-risk obstetric support. Omphaloceles and gastroschisis are distinct anomalies that have different management and outcomes. There have been a number of recent advances in the care of patients with AWDs, both in the fetus and the newborn, which will be discussed in this article. (...
Source: Clinics in Perinatology - June 1, 2012 Category: Perinatology & Neonatology Authors: Saleem Islam Source Type: research

Newborn with an omphalocele and ventricular septal defect.
PMID: 22694231 [PubMed - in process] (Source: Pediatric Annals)
Source: Pediatric Annals - June 1, 2012 Category: Pediatrics Authors: Listernick R Tags: Pediatr Ann Source Type: research

Congenital abdominal wall defects and reconstruction in pediatric surgery: gastroschisis and omphalocele.
Abstract The embryology, epidemiology, associated anomalies, prenatal course and the neonatal and surgical care of newborns with gastroschisis and omphalocele are reviewed. For gastroschisis temporary intestinal coverage is often done before a more definitive operative closure that may be immediate or delayed. Outcomes in gastroschisis are determined by associated bowel injury. For omphalocele small defects are closed primarily while large defects are treated topically to allow initial skin coverage before a later definitive closure. Outcomes for omphalocele are determined mainly by the presence of associated anoma...
Source: The Surgical Clinics of North America - June 1, 2012 Category: Surgery Authors: Ledbetter DJ Tags: Surg Clin North Am Source Type: research

High-Technology Gastroenterology Disorders in Children
This article will include a review of gastrointestinal tubes and their complications and presurgical and postsurgical considerations for gastroschisis, omphalocele, and Hirschsprung disease. In addition, with increasing pediatric survival from organ transplantation, pretransplantation and posttransplantation issues will be discussed, specifically for liver and small bowel transplantation. Pediatric patients with short bowel syndrome are being encountered more frequently and use multiple high technical adjuncts to aid in their survival. These adjuncts, as well as a review of short bowel syndrome, will be discussed. (Source:...
Source: Clinical Pediatric Emergency Medicine - June 1, 2012 Category: Emergency Medicine Authors: Amanda L. Bogie, Cecilia Guthrie Source Type: research

Staged Repair of Pentalogy of Cantrell with Ectopia Cordis and Ventricular Septal Defect
We present a successful staged complete repair of an omphalocele, a ventricular septal defect and a sternal defect in a case of pentalogy of Cantrell. (J Card Surg 2012;27:390‐392) (Source: Journal of Cardiac Surgery)
Source: Journal of Cardiac Surgery - May 23, 2012 Category: Cardiovascular & Thoracic Surgery Authors: Yoshie Sakasai, Bui Quoc Thang, Shinya Kanemoto, Miho Takahashi‐Igari, Shinji Togashi, Hideyuki Kato, Yuji Hiramatsu Tags: C R Source Type: research

Analysis of Readability and Quality of Web Pages Addressing both Common and Uncommon Topics in Pediatric Surgery
Conclusions Websites devoted to pediatric surgical topics have higher readability and quality information for disease diagnosis and natural history. Otherwise, the quality of pediatric surgical information on the Internet is high for CT and UT. A high reading level is required to use these resources.[...]Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals:Table of contents | Abstract | Full text (Source: European Journal of Pediatric Surgery)
Source: European Journal of Pediatric Surgery - May 10, 2012 Category: Surgery Authors: Adorisio, OttavioSilveri, MassimilianoRivosecchi, MassimoTozzi, Alberto EugenioScottoni, FedericoBuonuomo, Paola Sabrina Tags: Original Article Source Type: research

EphB2/B3 gene expression is down-regulated during early embryogenesis in the cadmium-induced omphalocele chick model
Conclusion: Downregulation of EphB2/B3 during the narrow window of early embryogenesis may interfere with normal somitogenesis, preventing migration of embryonic body wall ventrally and thus causing omphalocele. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - May 1, 2012 Category: Surgery Authors: Takashi Doi, Prem Puri, John Bannigan, Jennifer Thompson Tags: CAPS Papers Source Type: research

Evaluation of Surgisis for patch repair of abdominal wall defects in children
Conclusion: Our data suggest that Surgisis is moderately successful in the repair of pediatric abdominal wall defects. We noted a trend toward a higher recurrence rate in infants. Further studies investigating timing of repair and alternative biosynthetic materials are warranted. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - May 1, 2012 Category: Surgery Authors: Alana Beres, Emily R. Christison-Lagay, Rodrigo L.P. Romao, Jacob C. Langer Tags: CAPS Papers Source Type: research

Treatment of Graves' Disease with Antithyroid Drugs in the First Trimester of Pregnancy and the Prevalence of Congenital Malformation.
Conclusions:In utero exposure to MMI during the first trimester of pregnancy increased the rate of congenital malformations, and it significantly increased the rate of aplasia cutis congenita, omphalocele, and a symptomatic omphalomesenteric duct anomaly. PMID: 22547422 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 30, 2012 Category: Endocrinology Authors: Yoshihara A, Noh J, Yamaguchi T, Ohye H, Sato S, Sekiya K, Kosuga Y, Suzuki M, Matsumoto M, Kunii Y, Watanabe N, Mukasa K, Ito K, Ito K Tags: J Clin Endocrinol Metab Source Type: research

Fetal MRI-Calculated Total Lung Volumes in the Prediction of Short-Term Outcome in Giant Omphalocele: Preliminary Findings
Fetal Diagn Ther (DOI:10.1159/000334284) (Source: Karger Publishers)
Source: Karger Publishers - April 26, 2012 Category: Cancer & Oncology Source Type: research

Congenital Abdominal Wall Defects and Reconstruction in Pediatric Surgery: Gastroschisis and Omphalocele
The embryology, epidemiology, associated anomalies, prenatal course and the neonatal and surgical care of newborns with gastroschisis and omphalocele are reviewed. For gastroschisis temporary intestinal coverage is often done before a more definitive operative closure that may be immediate or delayed. Outcomes in gastroschisis are determined by associated bowel injury. For omphalocele small defects are closed primarily while large defects are treated topically to allow initial skin coverage before a later definitive closure. Outcomes for omphalocele are determined mainly by the presence of associated anomalies. (Source: Su...
Source: Surgical Clinics of North America - April 19, 2012 Category: Surgery Authors: Daniel J. Ledbetter Source Type: research

Pharmacologic treatment of hyperthyroidism during pregnancy
AbstractClinical hyperthyroidism has been associated with an increased risk of maternal, fetal, and neonatal complications. The available antithyroid drugs are methimazole/carbimazole and propylthiouracil. Several case reports and some epidemiologic studies suggest that methimazole/carbimazole exposure during the first trimester of pregnancy is associated with an increased risk of congenital malformations, including ectodermal anomalies, choanal atresia, esophageal atresia, and omphalocele. However, the absolute risk appears to be very small, and it remains unclear whether the association is driven by the maternal disease,...
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - April 18, 2012 Category: Perinatology & Neonatology Authors: Matteo Cassina, Marta Donà, Elena Di Gianantonio, Maurizio Clementi Tags: Review Article Source Type: research

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
Conclusions The present study suggests that development of an omphalocele in this family is controlled by overexpression of one or more genes in the duplicated region. To the authors' knowledge, this is the first reported association of an inherited omphalocele condition with a chromosomal rearrangement. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - April 12, 2012 Category: Genetics & Stem Cells Authors: Radhakrishna, U., Nath, S. K., McElreavey, K., Ratnamala, U., Sun, C., Maiti, A. K., Gagnebin, M., Bena, F., Newkirk, H. L., Sharp, A. J., Everman, D. B., Murray, J. C., Schwartz, C. E., Antonarakis, S. E., Butler, M. G. Tags: Clinical genetics, Genetic screening / counselling Copy-number variation Source Type: research

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study
Conclusions: The results of this study show that 2.8% of babies admitted to a Newborn Special Care Unit in a teaching hospital in Enugu had congenital abnormalities and that the commonest forms seen were mainly surgical birth defects and includes cleft lip/cleft palate and neural tube defects. (Source: BMC Research Notes)
Source: BMC Research Notes - April 3, 2012 Category: Research Authors: Herbert ObuJosephat ChinawaNwachinemere UleanyaGilbert AdimoraIkechukwu Obi Source Type: research

Prenatal ablation of nicotinic receptor alpha7 cell lineages produces lumbosacral spina bifida the severity of which is modified by choline and nicotine exposure
AbstractLumbosacral spina bifida is a common debilitating birth defect whose multiple causes are poorly understood. Here, we provide the first genetic delineation of cholinergic nicotinic receptor alpha7 (Chrna7) expression and link the ablation of the Chrna7 cell lineage to this condition in the mouse. Using homologous recombination, an IRES‐Cre bi‐cistronic cassette was introduced into the 3′ noncoding region of Chrna7 (Chrna7:Cre) for identifying cell lineages expressing this gene. This lineage first appears at embryonic day E9.0 in rhombomeres 3 and 5 of the neural tube and extends to cell subsets in most tissues...
Source: American Journal of Medical Genetics Part A - March 30, 2012 Category: Genetics & Stem Cells Authors: Scott W. RogersPetr TvrdikMario R. CapecchiLorise C. Gahring Tags: Research Article Source Type: research

Delayed management of giant omphalocele using silver sulfadiazine cream: an 18-year experience
Conclusions: Initial topical coverage with SSD is associated with excellent outcomes for infants with giant omphalocele who cannot undergo immediate closure. (Source: Journal of Pediatric Surgery)
Source: Journal of Pediatric Surgery - March 1, 2012 Category: Surgery Authors: Sigmund H. Ein, Jacob C. Langer Tags: Original Articles Source Type: research

Is maternal parity an independent risk factor for birth defects?
CONCLUSIONSNulliparity was associated with an increased risk of specific phenotypes of birth defects. Most of the phenotypes associated with nulliparity in this study were consistent with those identified by previous studies. Research into biologic or environmental factors that are associated with nulliparity may be helpful in explaining some or all of these associations. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 28, 2012 Category: Perinatology & Neonatology Authors: Hao T. Duong, Adrienne T. Hoyt, Suzan L. Carmichael, Suzanne M. Gilboa, Mark A. Canfield, Amy Case, Melanie L. McNeese, Dorothy Kim Waller, Tags: Original Article Source Type: research

Spectrum of congenital anomalies in pregnancies with pregestational diabetes
CONCLUSIONSThe increased risk of congenital anomalies in pregnancies with pregestational diabetes is related to specific non‐chromosomal congenital anomalies and multiple congenital anomalies and not a general increased risk. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 28, 2012 Category: Perinatology & Neonatology Authors: Ester GarneMaria LoaneHelen DolkIngeborg BarisicMarie‐Claude AddorLarraitz ArriolaMarian BakkerElisa CalzolariCarlos Matias DiasBerenice DorayMiriam GattKari Klyungsoyr MelveVera NelenMary O'MahonyAnna PieriniHanitra Randrianaivo‐RanjatoelinaJudith Ra Tags: Original Article Source Type: research

Clinical Image: A Severe Form of Gastroschisis
This article has been peer reviewed. Article Submitted on: 14th January 2012 Article Accepted on: 9th February 2012 Funding Sources: None Declared Correspondence to: Aruyaru Stanley Mwenda Address: Consolata Hospital, Nyeri, Kenya Email: arumwesta@gmail.com Clinical Image BRIEF HISTORY: A 25-year-old pregnant Kenyan woman of African descent presented to our hospital at 26 weeks of gestation with complaints of lower abdominal pain and reduced fetal movements for one day. This was her second pregnancy, with first being unremarkable. She had attended antenatal clinic once during which her antenatal profile was unremarkable. A...
Source: Journal of Pakistan Medical Students - February 27, 2012 Category: Universities & Medical Training Authors: JPMS Source Type: research

Emergency treatment of a ruptured huge omphalocele by simple suture of its membrane
Conclusions: In case of rupture of huge omphalocele in absence of prosthesis, it is better to suture the membrane, and continue the treatment according to the Grob's method; the residual disembowelment can be repaired later. (Source: BioMed Central)
Source: BioMed Central - February 12, 2012 Category: Journals (General) Authors: Gamedzi Komlatse Akakpo-NumadoKomla GnassingbeMissoki Azanledji BoumeKodjo Abossisso SakiyeKomlan Mihluedo-AgbolanKomla AttipouHubert Tekou Source Type: research

[Liver torsion leading to death in a 16-month-old infant treated neonatally for an omphalocele.]
We report the case of an infant who underwent surgery on the first day of life for a giant omphalocele. At the age of 16 months, he presented an acute abdominal syndrome and died a few hours later. Autopsy revealed a twisted left liver lobe (LL) including a suprahepatic vein. To our knowledge, this is the first case of giant omphalocele complicated by twisted liver lobe and fatal outcome. PMID: 22305089 [PubMed - as supplied by publisher] (Source: Archives de Pediatrie)
Source: Archives de Pediatrie - February 2, 2012 Category: Pediatrics Authors: Ammouche C, Moog R, Lacreuse I, Gomes C, Kauffmann I, Becmeur F Tags: Arch Pediatr Source Type: research

Maternal Asthma Medication Use and the Risk of Selected Birth Defects
CONCLUSIONS: Positive associations were observed for anorectal atresia, esophageal atresia, and omphalocele and maternal periconceptional asthma medication use, but not for other defects studied. It is possible that observed associations may be chance findings or may be a result of maternal asthma severity and related hypoxia rather than medication use. (Source: PEDIATRICS)
Source: PEDIATRICS - February 1, 2012 Category: Pediatrics Authors: Lin, S., Munsie, J. P. W., Herdt-Losavio, M. L., Druschel, C. M., Campbell, K., Browne, M. L., Romitti, P. A., Olney, R. S., Bell, E. M., the National Birth Defects Prevention Study Tags: Developmental/Behavior Article Source Type: research

Is maternal parity an independent risk factor for birth defects?
CONCLUSIONSNulliparity was associated with an increased risk of specific phenotypes of birth defects. Most of the phenotypes associated with nulliparity in this study were consistent with those identified by previous studies. Research into biologic or environmental factors that are associated with nulliparity may be helpful in explaining some or all of these associations. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 1, 2012 Category: Perinatology & Neonatology Authors: Hao T. DuongAdrienne T. HoytSuzan L. CarmichaelSuzanne M. GilboaMark A. CanfieldAmy CaseMelanie L. McNeeseDorothy Kim Waller Tags: Original Article Source Type: research

First‐trimester detection of structural abnormalities and the role of aneuploidy markers
ConclusionAbout half of major structural abnormalities can be diagnosed in the first trimester. Increased nuchal translucency or abnormal ductus venosus blood flow appear to be associated with cardiac and skeletal defects and may facilitate early detection. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. (Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - January 27, 2012 Category: Radiology Authors: M. GrandeM. ArigitaV. BorobioJ. M. JimenezS. FernandezA. Borrell Tags: Original Paper Source Type: research

Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome
We report a case of Donnai-Barrow syndrome in a 2-year-old boy who presented with exotropia and prominent eyes since birth. Ocular findings included high myopia, persistent pupillary membrane, and optic nerve hypoplasia. Facial manifestations included broad nasal bridge, hypertelorism, and downward-slanting of palpebral fissures. The patient had associated omphalocele, sensorineural hearing loss, and developmental delay. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported association of persistent pupillary membrane, strabismus, and optic nerve hypoplasia in a p...
Source: Journal of AAPOS - December 1, 2011 Category: Opthalmology Authors: Supriya Chinta, Amit Gupta, Virender Sachdeva, Ramesh Kekunnaya Tags: Short Reports Source Type: research

Folate and vitamin B12-related genes and risk for omphalocele
Abstract Both taking folic acid-containing vitamins around conception and consuming food fortified with folic acid have been reported to reduce omphalocele rates. Genetic factors are etiologically important in omphalocele as well; our pilot study showed a relationship with the folate metabolic enzyme gene methylenetetrahydrofolate reductase (MTHFR). We studied 169 non-aneuploid omphalocele cases and 761 unaffected, matched controls from all New York State births occurring between 1998 and 2005 to look for associations with single nucleotide polymorphisms (SNPs) known to be important in folate, vitamin B12, o...
Source: Human Genetics - November 24, 2011 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: research

ATXN1 Protein Family and CIC Regulate Extracellular Matrix Remodeling and Lung Alveolarization.
Abstract Although expansion of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar ataxia type 1, the functions of ATXN1 and ATAXIN1-Like (ATXN1L) remain poorly understood. To investigate the function of these proteins, we generated and characterized Atxn1L(-/-) and Atxn1(-/-); Atxn1L(-/-) mice. Atxn1L(-/-) mice have hydrocephalus, omphalocele, and lung alveolarization defects. These phenotypes are more penetrant and severe in Atxn1(-/-); Atxn1L(-/-) mice, suggesting that ATXN1 and ATXN1L are functionally redundant. Upon pursuing the molecular mechanism, we discovered that several Matrix metalloproteinase (Mmp) ...
Source: Developmental Cell - October 18, 2011 Category: Cytology Authors: Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY Tags: Dev Cell Source Type: research

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research
AbstractCloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins. The defect has been described in infants with limb‐body wall, with trisomy 18, and in ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 14, 2011 Category: Genetics & Stem Cells Authors: Marcia L. FeldkampLorenzo D. BottoEmmanuelle AmarMarian K. BakkerEva Bermejo‐SánchezSebastiano BiancaMark A. CanfieldEduardo E. CastillaMaurizio ClementiMelinda Csaky‐SzunyoghEmanuele LeonciniZhu LiR. Brian LowryPierpaolo MastroiacovoPaul MerlobMarge Tags: Article Source Type: research

Prenatal findings of omphalocele‐extrophy of the bladder‐imperforate anus‐spinal defects (OEIS) complex
We describe two cases of OEIS complex diagnosed prenatally by ultrasounds and MRI findings. In both cases, OEIS complex was suspected by conventional sonography in 2nd trimester, and fetal magnetic resonance imaging (MRI) was performed at 27 and 32 weeks each. The conventional sonography revealed low abdominal wall mass, spina bifida, absent bladder and ambiguous genitalia, but those findings were inconclusive. By fetal MRI, we were able to detect the omphalocele, imfraumbilical mass connected to gut tract, absent bladder, ambiguous external genitalia and spinal defect. Our findings suggest that fetal MRI is a useful tool ...
Source: Congenital Anomalies - October 13, 2011 Category: Genetics & Stem Cells Authors: Shinobu GotoNobuhiro SuzumoriShintaro ObayashiEita MizutaniYuko HayashiMayumi Sugiura‐Ogasawara Source Type: research

Presenilin genes are downregulated during somitogenesis in the cadmium-induced omphalocele chick model
Conclusion We provide evidence, for the first time, that gene expression of presenilins is downregulated during the narrow window of very early embryogenesis in the Cd chick model. Decreased expression of presenilins may contribute to omphalocele phenotype in Cd chick model, by disrupting somite development. Content Type Journal ArticleCategory Original ArticlePages 1-5DOI 10.1007/s00383-011-2994-1Authors Takashi Doi, National Children’s Research Centre, Our Lady’s Children’s Hospital, Dublin 12, IrelandNaho Fujiwara, National Children’s Research Centre, Our Lady’s Children’s Hospital, D...
Source: Pediatric Surgery International - October 11, 2011 Category: Surgery Tags: Pediatric Surgery International Source Type: research