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The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1) deficiency of abdominal muscles, (2) bilateral cryptorchidism, and (3) urinary tract abnormalities. The abdomen of an infant with PBS has a typical appearance, similar to the aspect of a prune, which gives it its name. Although the etiology of this disorder is still unknown, numerous theories, mutations, and genetic disturbances have been proposed to explain the origin of PBS. Prognosis can differ a lot from one patient to another, since this condition has a wide spectrum of clinical presentation. Despite being a rare condition, the importance of PBS should not be underestimated, in the light of the potential of the disorder to lead to chronic kidney disease and other severe complications. In that regard, this review gathers the most up-to-date knowledge about the etiopathogenesis, clinical features, diagnosis, management and prognosis of PBS.

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Abstract Objective To characterize and compare the outcomes of omphalocele and gastroschisis from birth to 2 years of follow-up in a recent cohort at a tertiary center. Methods This is a retrospective clinical record review of all patients with gastroschisis and omphalocele admitted to the Neonatal Intensive Care Unit between January 2009 and December 2019. Results There were 38 patients, 13 of whom had omphalocele, and 25 of whom had gastroschisis. Associated anomalies were present in 6 patients (46.2%) with omphalocele and in 10 (41.7%) patients with gastroschisis. Compared with patients with omphalocele, those with gastroschisis had younger mothers (24.7 versus 29.6 years; p=0.033), were born earlier (36 versus 37 weeks, p=0.006), had lower birth weight (2365±430.4 versus 2944.2±571.9 g; p=0.001), and had a longer hospital stay (24 versus 9 days, p=0.001). The neonatal survival rate was 92.3% for omphalocele and 91.7% for gastroschisis. Thirty-four patients were followed-up over a median of 24 months; 13 patients with gastroschisis (59.1%) and 8 patients with omphalocele (66.7%) had at least one adverse event, mainly umbilical hernia (27.3% vs 41.7%), intestinal obstruction (31.8% vs 8.3%), or additional surgical interventions (27.3% vs 33.3%). Conclusion Despite the high proportion of prematurity, low birth weight, and protracted recovery, gastroschisis and omphalocele (without chromosomal abnormalities) may achieve very high survival rates; on the other hand, complications may develop in the first years of life. Thus, a very positive perspective in terms of survival should be transmitted to future parents, but they should also be informed that substantial morbidity may occur in the medium term.

Resumo Objetivo Caracterizar e comparar os desfechos do onfalocelo e gastrosquisis desde o nascimento até aos 2 anos de seguimento numa coorte recente de um centro terciário. Métodos Este é um estudo retrospectivo em que foi feita uma revisão dos registos clínicos de todos os pacientes com gastrosquisis e onfalocelo que foram internados na unidade de cuidados intensivos neonatais, entre janeiro de 2009 e dezembro de 2019. Resultados Identificamos 38 pacientes, 13 dos quais tinham onfalocelo e 25 dos quais tinham gastrosquisis. Anomalias associadas estavam presentes em 6 pacientes (46.2%) com onfalocelo e 10 (41.7%) com gastrosquisis. Comparativamente com os pacientes com onfalocelo, os pacientes com gastrosquisis tinham mães mais jovens (24.7 versus 29.6 anos; p=0.033), nasceram mais precocemente (36 versus 37 semanas, p=0.006), com menor peso ao nascimento (2,365±430.4 versus 2,944.2±571.9 g; p=0.001), e o internamento teve uma duração mais longa (24 versus 9 dias, p=0.001). A taxa de sobrevivência neonatal foi de 92.3% para o onfalocelo e 91.7% para a gastrosquisis. Trinta e quatro pacientes foram seguidos durante umtempo mediano de seguimento de 24meses: 13 com gastrosquisis (59.1%) e 8 com onfalocelo (66.7%) apresentaram pelo menos um evento adverso, sobretudo hérnia umbilical (27.3% vs 41.7%), obstrução intestinal (31.8% vs 8.3%) ou intervenções cirúrgicas adicionais (27.3% vs 33.3%). Conclusão Apesar da alta proporção de prematuridade, de baixo peso e de recuperação lenta, os gastrosquisis, assim como os onfalocelos (sem anomalias cromossómicas), podem ter uma taxa de sobrevivência muito alta; por outro lado, nos primeiros anos de vida, podem surgir complicações não desprezíveis. Assim, aos futuros pais pode ser transmitida uma perspectiva muito positiva em termos de sobrevivência, embora eles também devam ser informados de que pode ocorrermorbidade substancial no médio prazo.

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OBJECTIVE: To identify prenatal and neonatal predictors of short bowel syndrome-related intestinal failure (SBS-IF) in gastroschisis. STUDY DESIGN: This retrospective study included all patients with gastroschisis born between 2000 and 2017 who were enrolled in our home parenteral nutrition program, and all patients with gastroschisis born in our institution who survived 2 weeks, during the same time period. Prenatal ultrasound features, neonatal status, anatomic features, oral feeding, and parenteral nutrition dependency were analyzed. RESULTS: Among 180 patients, 35 required long-term parenteral nutrition (SBS-IF group) and 145 acquired full oral feeding within 6 months (oral feeding group). The mean follow-up was 7.9 years (IQR, 1.6-17.5 years) and 5.0 years (IQR, 0.1-18.2 years), respectively. Both bowel matting (OR, 14.23; 1.07-16.7; P = .039) and secondarily diagnosed atresia or stenosis (OR, 17.78; 3.13-100.98; P = .001) were independent postnatal predictors of SBS-IF. Eighteen children (51% of the SBS-IF group) were still dependent on artificial nutrition at the last follow-up. patients with SBS-IF who achieved full oral feeding had a median residual small-bowel length of 74 cm (IQR, 51-160 cm) vs 44 cm (IQR, 10-105 cm) for those still dependent on artificial nutrition (P = .02). An initial residual small bowel length of more than 50 cm was the best predictive cut-off for nutritional autonomy, with a sensitivity of 67% and a specificity of 100%. CONCLUSIONS: Bowel matting, complex gastroschisis, and secondary intestinal obstruction were associated with SBS-IF in gastroschisis. For patients with SBS-IF, a small bowel length of more than 50 cm was predictive of secondary nutritional autonomy.

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INTRODUCCIÓN: La gastrosquisis es una anomalía que expone los órganos abdominales hacia el exterior. La prevalencia media global es de 1.36 por cada 10 000 nacidos vivos. En el Ecuador, según el Instituto Nacional de Estadísticas y Censos (INEC), se evidencia un aumento en el número de casos de egreso hospitalario alcanzando los 52 pacientes en el año 2010, los 85 en el 2012 y los 112 pacientes en el 2015. El objetivo del presente caso es realizar una descripción de esta patología y dar a conocer la importancia que tiene su diagnóstico prenatal con el fin de planificar su resolución quirúrgica para la atención inmediata al recién nacido luego del nacimiento. CASO CLÍNICO: recién nacido de madre primigesta de 16 años, sin más antecedentes prenatales, se realizó cuatro ultrasonidos durante el embarazo en casa de salud particular, los cuales no reportaron alteraciones. A las 37.4 semanas nace por parto eutócico, evidenciándose gastrosquisis. Se realizó laparotomía más peritoneostomía a las 24 horas de vida, y se programó cierre diferido. EVOLUCIÓN: recibió manejo integral en cuidados intensivos neonatales. Se realizó cierre definitivo a los 8 días. Permaneció hospitalizado por 22 días, recibió nutrición parenteral y se inició alimentación trófica a los 15 días de vida; se inició antibioticoterapia de primera línea, sin embargo por evolución tórpida, requirió rotación a antibiótico de amplio espectro. CONCLUSIÓN: la gastrosquisis se puede ser detectada por ecografía desde la semana doce de gestación con el objetivo de minimizar las complicaciones y planificar su resolución quirúrgica inmediatamente luego de su nacimiento.(au)

BACKGROUND: Gastroschisis is an anomaly in which abdominal organs are exposed outside the abdominal wall. The global average prevalence is 1.36 for each 10 000 newborns. In Ecuador, according to the National Institute of Statistics and Censuses (INEC), there is evidence of an increase in the number of hospital discharges with this diagnosis, reaching 52 in 2010, 85 in 2012, and 112 patients in 2015. The aim of this publication is to describe this pathology and expose the importance of prenatal diagnosis to plan prompt surgical intervention for the newborn after birth. CASE REPORT: newborn from a 16-year-old primigravid mother, with no other prenatal history, four ultrasounds were performed during pregnancy in a private health facility, which reported no alterations. At 37.4 weeks of pregnancy, the newborn was delivered by eutocic birth, showing gastroschisis. The patient underwent laparotomy and peritoneostomy at 24 hours of age, delayed closure was scheduled. EVOLUTION: the newborn received comprehensive care in the neonatal intensive care unit. Delayed closure was performed eight days later. He remained hospitalized for 22 days, he received parenteral nutrition and started trophic feeding at 15 days of age; first-line antibiotic therapy was initiated, however due to torpid evolution, he required a change to a broad-spectrum antibiotic. CONCLUSION: gastroschisis can be detected in ultrasound from the twelve week of pregnancy to minimize complications and program the surgical procedure immediately after birth.(au)

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Introduction: Fetuses with trisomy 18 will occasionally also have ectopia cordis. Case report: A routine ultrasound scan at 12 weeks' gestation revealed a large fetal anterior thoraco-abdominal wall defect with an extrathoracic heart and a liver-containing omphalocele. Chorionic villus sampling revealed a 47,XY,+18 karyotype. Additional anomalies detected after termination of the pregnancy included a cleft lip and palate and left radial agenesis. Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell.

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We investigated whether likely pathogenic variants co-segregating with gastroschisis through a family-based approach using bioinformatic analyses were implicated in body wall closure. Gene Ontology (GO)/Panther functional enrichment and protein-protein interaction analysis by String identified several biological networks of highly connected genes in UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10, AOX1, NOTCH1, HIST1H2BB, RPS3, THBS1, ADCY9, and FGFR4. SVS-PhoRank identified a dominant model in OR10G4 (also as heterozygous de novo), ITIH3, PLEKHG4B, SLC9A3, ITGA2, AOX1, and ALPP, including a recessive model in UGT1A7, UGT1A6, PER2, PTPRD, and UGT1A3. A heterozygous compound model was observed in CDYL, KDM5A, RASGRP1, MYBPC2, PDE4DIP, F5, OBSCN, and UGT1A. These genes were implicated in pathogenetic pathways involving the following GO related categories: xenobiotic, regulation of metabolic process, regulation of cell adhesion, regulation of gene expression, inflammatory response, regulation of vascular development, keratinization, left-right symmetry, epigenetic, ubiquitination, and regulation of protein synthesis. Multiple background modifiers interacting with disease-relevant pathways may regulate gastroschisis susceptibility. Based in our findings and considering the plausibility of the biological pattern of mechanisms and gene network modeling, we suggest that the gastroschisis developmental process may be the consequence of several well-orchestrated biological and molecular mechanisms which could be interacting with gastroschisis predispositions within the first ten weeks of development.

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La gastrosquisis es un defecto congénito de la pared abdominal que permite la exteriorización del contenido abdominal, cuyo pronóstico dependerá de las complicaciones intestinales asociadas. Es importante la detección prenatal de aquellos casos con riesgo de gastrosquisis compleja. Objetivo. Describir las características epidemiológicas de los recién nacidos con gastrosquisis atendidos en un hospital nacional. Diseño. Serie de casos. Institución. Hospital Nacional Daniel A. Carrión (HNDAC), Lima, Perú. Pacientes. Recién nacidos vivos. Metodología. Estudio de todos los recién nacidos vivos con el diagnóstico de gastrosquisis, en un periodo de 5 años. Se excluyó aquellos con nacimiento extrainstitucional o con datos insuficientes. Principales medidas de resultados. Características y manejo de los recién nacidos con gastrosquisis. Resultados. Se reportaron 17 casos. La incidencia fue 9,7/1 000 nacidos vivos y la mortalidad perinatal 14%; 64,3% nacieron de madres adolescentes, 78% primigestas. El nacimiento ocurrió principalmente por cesárea (71,4%). Existió un pobre registro de predictores ecográficos de complicaciones intestinales. Se realizó cierre primario en 28,6% de los casos. El primer caso de mortalidad ocurrió luego de manejo quirúrgico con silo, falleciendo por sepsis. El segundo caso presentó atresia intestinal requiriendo múltiples cirugías y falleció por atelectasia masiva. Conclusiones. Es necesario estandarizar la valoración y registro de los diversos marcadores pronósticos en gastrosquisis fetal. Es necesario establecer series más largas y mejor documentadas.

Gastroschisis is a congenital defect of the abdominal wall that allows externalization of the abdominal contents; prognosis depends on the associated intestinal complications. Prenatal detection of cases with risk of complex gastroschisis is important. Objective: To describe the epidemiological characteristics of newborns with gastroschisis occurring at a national hospital. Design: Case series. Institution: Hospital Nacional Daniel A. Carrion (HNDAC), Lima, Peru. Patients: Newborns with gastroschisis. Methodology: All live newborns with the diagnosis of gastroschisis in a period of 5 years were studied. Cases born in other institutions or with insufficient data were excluded. Main outcome measures: Characteristics of newborns with gastroschisis and their management. Results: 17 cases were reported with an incidence of 9.7/1 000 live newborns and with a perinatal mortality of 14%; 64.3% were born to an adolescent mother, of which 78% carried their first pregnancy. The main delivery mode was cesarean section (71.4%). There were poor records of ultrasonographic predictors of intestinal complications. Primary closure was performed in 28.6% of cases. The first case of death occurred after surgery with silo and died from sepsis. The second case had intestinal atresia requiring multiple surgeries and died due to massive atelectasis. Conclusions: It is necessary to standardize the assessment and registration of various prognostic markers in fetal gastroschisis. More and better documented series are necessary.

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BACKGROUND: US-born Mexican American women have greater rates of preterm birth and consequent overall infant mortality than their Mexico-born peers. However, the relation of Mexican American women's nativity to rates of congenital anomalies is poorly understood. Hispanic ethnicity and young maternal age are well-known risk factors for gastroschisis. OBJECTIVE: To determine the extent to which nativity of Mexican American women is associated with abdominal wall defects. METHODS: Stratified and multivariable logistic regression analyses were performed on the 2003-2004 National Center for Health Statistics linked live birth-infant death cohort. Only Mexican American infants were studied. Maternal variables examined included nativity, age, education, marital status, parity, and prenatal care usage. RESULTS: Infants with US-born Mexican American mothers (n=451,272) had an abdominal wall defect rate of 3.9/10,000 compared with 2.0/10,000 for those with Mexico-born mothers (n=786,878), RR=1.9 (1.5-2.4). Though a greater percentage of US-born (compared wtih Mexico-born) Mexican American mothers were teens, the nativity disparity was actually widest among women in their 20s. The adjusted (controlling for maternal age, education, marital status, parity, and prenatal care) odds ratio of abdominal wall defects among infants of US-born (compared with Mexico-born) Mexican American mothers was 1.6 (1.2-2.0). CONCLUSIONS: US-born Mexican American women have nearly a two-fold greater rate of delivering an infant with an abdominal wall defect than their Mexico-born counterparts. This phenomenon is only partially explained by traditional risk factors and highlights a detrimental impact of lifelong residence in the United States, or something closely related to it, on the pregnancy outcome of Mexican American women.

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La pentalogía de Cantrell es una enfermedad poco frecuente que resulta de alteraciones embriológicas del mesodermo, caracterizada por defecto en la porción baja esternal, defecto de la pared abdominal supraumbilical, defecto diafragmático anterior, defecto del pericardio diafragmático y anomalía cardiaca. Caso clínico: Se presenta el caso de un neonato de sexo masculino con diagnóstico prenatal de defecto de la pared abdominal, en quien posteriormente se realizó el diagnóstico de Pentalogía de Cantrell. Al presentar este caso se destaca la posibilidad diagnóstica en la vida fetal, y el pobre pronóstico de estos pacientes cuando su presentación clínica se asocia a hipoplasia pulmonar severa.

Pentalogy of Cantrell is a rare disease that results from alterations in embryo development. It is characterized by defects of the lower sternum, midline supraumbilical abdominal wall defect, deficiency of the anterior diaphragm, defects in the diaphragmatic pericardium and cardiac anomaly. Case Report: The case of a male neonate with a prenatal diagnosis of abdominal wall defect is presented, who was subsequently diagnosed with Pentalogy of Cantrell. This study emphasizes the prenatal diagnosis possibilities and the poor prognosis for these patients when their clinical presentation is associated with severe lung hypoplasia.

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PURPOSE: The aim of the present study was compare the biocompatibility of a polypropylene mesh and a patch of porcine small intestinal submucosa (SIS) when used to repair a defect involving the entire anterior abdominal wall of rats. METHODS:Twenty Wistar rats were allocated in 2 groups of 10 animals each. In the group 1 the defect was repaired with SIS and in the group2 it was repaired with polypropylene mesh. On the 30th post-operative day the animals were sacrificed for macroscopic , histological and tensiometric evaluation. RESULTS: Adhesions were present in the animals of both group , but in the polypropylene mesh group the intestinal adhesions were more frequent than in the SID group. The maximum tensile strength was greater in the polypropylene group, however is we consider the thickness of the implants, the tensile strength of submucosa was significantly greater. The mesothelium coverage and the collagen deposition was greater in the SID group. The foreign body reaction and the chronic inflammatory process was higher in the SID group. The percentage of mature collagen was significantly greater in the SIS group. CONCLUSION: We concluded that SIS can be an alternative to synthetic meshes when used to repair the defects of abdominal wall.

OBJETIVO: Comparar a biocompatibilidade da tela de polipropileno e do enxerto de submucosa intestinal de suínos, quando usados para o reparo de defeito criado na parede anterior de abdomen de ratos, que envolveu toda a sua espessura e extensão. MÉTODO: Vinte ratos Wistar foram divididos em dois grupos de 10 animais. Um defeito quadrangular, com 3,5cm de lado foi criado cirurgicamente na parede abdominal anterior dos 20 ratos. No primeiro grupo(grupo 1) este defeito foi reparado com submucosa de intestino delgado (SID), e no segundo grupo(grupo 2) com tela de polipropileno. Após 30 dias, os animais foram sacrificados. Além da avaliação macroscópica dos enxertos, realizou-se um estudo tensiométrico e microscópico. RESULTADOS: Os animais de ambos os grupos apresentaram aderências entre o implante e as estruturas intra-abdominais, todavia no grupo com a tela de polipropileno observou-se maior número de aderências entre a tela e as alças intestinais. A força máxima de ruptura foi significantemente maior no grupo de animais com a tela de polipropileno, todavia se corrigida pela espessura do enxerto, a tensão máxima foi maior no enxerto de submucosa porcina que na tela de polipropileno. A mesotelisação foi significativamente mais intensa no grupo da submucosa, assim como a deposição de colágeno. As reações granulomatosas de corpo estranho e inflamação crônica também foram mais intensas no grupo 1. CONCLUSÃO: A SID monstrou ser uma alternativa ao enxerto sintético no reparo de grandes defeitos da parede abdominal em ratos, com melhor mesotelisação e deposição de colágeno, sem aumento no número de complicações. A submucosa apresentou maior resistência por mm², apesar de ter se mostrado menos resistente quando considerada a força maneira absoluta.