The Epidemiology, Genetics and Future Management of Syndactyly

Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance

Babies with brain damage who can not swallow: surgical management

BACKGROUND: Neonates with severe neurological impairment are often unable to swallow, necessitating gastrostomy for feeding. Because of the risk of developing severe reflux, this procedure is often associated with fundoplication. OBJECTIVE: To assess the safety and efficacy of gastrostomy and Nissen fundoplication in 22 neonates with swallowing difficulties due to serious neurological impairment. METHOD: All children underwent an initial period of nasogastric feeding and after informed consent underwent gastrostomy and Nissen fundoplication. RESULTS: There were no significant intraoperative complications. There were two cases of postoperative periostomy leakage. Of the 22 neonates 16 were alive four months after surgery. Six neonates died of complications due to underlying disease. CONCLUSION: We concluded that gastrostomy and Nissen fundoplication are safe procedures and help parents give a better care to these children.INTRODUÇÃO: Neonatos com dano neurológico são freqüentemente incapazes de deglutir necessitando de gastrostomia para alimentação. Devido ao risco de refluxo grave, esse procedimento é associado à fundoplicatura. OBJETIVO: Avaliar a segurança e eficácia da gastrostomia com fundoplicatura Nissen em 22 neonatos com dificuldades de deglutição devido à lesão neurológica grave. MÉTODO: Todos os neonatos foram submetidos a um período inicial de alimentação por sonda nasogástrica e, após consentimento informado, foram submetidos a gastrostomia com fundoplicatura Nissen. RESULTADOS: Não houve complicações intra-operatórias significativas. Houve dois casos de vazamento pós-operatório da ostomia. Dos 22 neonatos, 16 estavam vivos 4 meses após a cirurgia. Seis neonatos morreram por complicações devido à doença de base. CONCLUSÃO: A gastrostomia com fundoplicatura Nissen é procedimento seguro e ajuda os pais a darem melhor cuidado a crianças com lesão neurológica

Prenatal diagnosis and management of the fetus with an abdominal wall defect

Prenatal ultrasound has advanced our understanding of congenital abdominal wall defects. In addition to providing insights into the divergent embryological origins and natural history of abdominal wall defects, ultrasound has had an important impact on the management of these anomalies. For fetuses with gastroschisis, the changes in appearance of the bowel may suggest expeditious delivery. In cases of omphalocele, the presence of additional anomalies is significantly associated with the ultimate prognosis for these fetuses. Giant omphalocele may preclude vaginal delivery secondary to dystocia. Exstrophies of the cloaca and bladder are rare congenital abnormalities that often present complex management issues, including gender reassignment in cases of cloacal exstrophy, for those couples wishing to continue the pregnancy. We believe that the optimal management of a fetus diagnosed with an abdominal wall defect requires a coordinated effort among specialists from maternal fetal medicine, pediatric surgery, and pediatrics

Prenatal diagnosis and management of gastrointestinal anomalies

The increased use of prenatal sonography has led to earlier and more frequent diagnosis of a wide range of gastrointestinal anomalies. Many of these anomalies are associated with other severe cardiac, renal, and genetic abnormalities that may impact on decisions regarding timing and site of delivery. The majority of these patients should be referred to a center that provides perinatal, neonatal, and pediatric surgical expertise. After a complete prenatal evaluation, a decision regarding the site of delivery and the need for subspecialty referral can be made. Prenatal diagnosis of the conditions discussed in this article does not influence the mode of delivery, but subsequent management of the newborn is improved by delivery in a tertiary care center

Expression of human collagenase-3 (MMP-13) by fetal skin fibroblasts is induced by transforming growth factor beta via p38 mitogen-activated protein kinase.

Human collagenase-3 (MMP-13) is characterized by wide substrate specificity and limited tissue specific expression. We have previously noted that human collagenase-3 (MMP-13) is expressed by gingival fibroblasts in culture and during gingival wound repair characterized by minimal scarring. Here we show that human MMP-13 is expressed by dermal fibroblasts during early wound repair in fetal skin grafted on SCID mice. The expression of MMP-13 by fetal skin fibroblasts in monolayer culture was enhanced by transforming growth factor β 1 (TGF- β 1) and TGF- β 3, whereas MMP-13 expression was not detected in neonatal skin fibroblasts. Treatment of fetal skin fibroblasts with TGF- β 1 potently activated p38 mitogen-activated protein kinase (MAPK). Induction of MMP-13 expression by TGF- β 1 was blocked by p38 MAPK inhibitor SB203580, and by adenovirally delivered dominant negative form of p38 α . These observations demonstrate a remarkable difference in the regulation of collagenolytic capacity between fetal and neonatal skin fibroblasts, which suggests a role for MMP-13 in rapid turnover of collagenous matrix during repair of fetal cutaneous wounds, which heal without scar.</div

Improvement in hindbrain herniation demonstrated by serial fetal magnetic resonance imaging following fetal surgery for myelomeningocele.

CONTEXT: Hindbrain herniation occurs in a large percentage of children with myelomeningocele and is the leading cause of death in this population. The effect of early fetal closure of myelomeningocele on hindbrain herniation is unknown. OBJECTIVE: To determine whether early fetal closure of myelomeningocele affects hindbrain herniation. DESIGN: Case series of patients undergoing fetal myelomeningocele closure with serial measurements of hindbrain herniation and a mean follow-up of 182 days. SETTING: Tertiary care medical center. PARTICIPANTS: Ten patients undergoing fetal myelomeningocele closure at 22 to 25 weeks\u27 gestation between March 1998 and February 1999. MAIN OUTCOME MEASURES: Need for shunt placement; degree of hindbrain herniation (grades 0-3) found on magnetic resonance imaging (MRI) performed prior to surgery and 3 and 6 weeks after fetal surgery, as well as shortly after birth; gestational age at delivery. RESULTS: All initial fetal MRI scans performed at 19 to 24 weeks\u27 gestation showed significant (grade 3) cerebellar herniation and absence of spinal fluid spaces around the cerebellum. Six fetuses were delivered electively at 36 weeks\u27 gestation after lung maturity was established. The other 4 were delivered prematurely, at 25, 30, 30, and 31 weeks of gestation, and the 25-week gestation neonate died. All 9 surviving neonates showed improvement in the hindbrain hernia at the 3-week postoperative fetal scan (grade 2, n = 4; grade 1, n = 5). On the postnatal scan, all patients showed grade 1 hindbrain herniation. Only 1 patient required placement of a ventriculoperitoneal shunt. CONCLUSION: In this series of patients, fetal myelomeningocele closure resulted in improvement in hindbrain herniation as demonstrated by serial MRI scans

Placental gene transfer: transgene screening in mice for trophic effects on the placenta

Objective: We hypothesized that gene transfer of select growth factors to the placenta may enhance placental and fetal growth. Thus, we examined the effect of 8 growth factor transgenes on murine placenta. Study Design: Adenoviral-mediated site-specific intraplacental gene transfer of 8 different growth factor transgenes at embryonic day (e) 14 was performed. Transgenes included angiopoietin-1, angiopoietin-2 (Ang-2), basic fibroblast growth factor, hepatocyte growth factor, insulin-like growth factor-1 (IGF-1), placenta growth hormone, platelet-derived growth factor-B (PDGF-B), and vascular endothelial growth factor121. Fetuses and placentas were harvested at e17 and assessed for survival, gene transfer efficiency, placenta area, and fetal and placental weights. Results: Efficient gene transfer to the placenta was detected with minimal dissemination to the fetus. Overexpression of IGF-1, PDGF-B, and Ang-2 resulted in an increase in placenta cross-sectional area. Only Ang-2 gene transfer resulted in increased fetal weight, and only Ang-2 and basic fibroblast growth factor resulted in a change in placental weight. Conclusion: Site-specific placental gene transfer results in efficient gene transfer with minimal dissemination to the fetus. Adenoviral-mediated IGF-1, adenoviral-mediated PDGF-B, and adenoviral-mediated Ang-2 significantly increase placenta growth. © 2009 Mosby, Inc. All rights reserved