Ectopia cordis associated with pentalogy of cantrell-a case report / Ectopia cordis associada à pentalogia de cantrell-relato de caso

Abstract Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by changes in the mesodermal median structures and congenital heart disease, often with a poor prognosis. In 1958, Cantrell et al2 defined the full spectrum of the syndrome with the following anomalies: defects of the anterior diaphragm, of the lower part of the sternum, of the supraumbilical region and the abdominal wall, of the diaphragmatic pericardium, and various intracardiac congenital abnormalities. The present report describes a case of ectopia cordis associated with PC and the importance of the participation of a multidisciplinary team in the treatment of this condition.

Resumo A pentalogia de Cantrell (PC) é uma rara anomalia congênita caracterizada por alterações nas estruturas medianas mesodérmicas e doenças cardíacas congênitas, cursando muitas vezes com um mau prognóstico. Em 1958, Cantrell et al2 definiram o espectro completo da síndrome com as seguintes anomalias: defeitos do diafragma anterior, da parte inferior do esterno, da região supraumbilical e parede abdominal, do pericárdio diafragmático, e várias anormalidades congênitas intracardíacas. O presente relato relaciona-se a um caso de ectopia cordis associado à PC e à importância da participação de uma equipe multidisciplinar no acompanhamento da doença.

Diagnóstico de factores de riesgo asociados a defectos de pared abdominal a mujeres con descendencia afectada. Provincia Matanzas, enero 2013-enero 2016 / Diagnosis of risk factors associated to abdominal wall defects in women with affected descendants. Province of Matanzas, January 2013-January 2016

Introducción: los defectos de pared abdominal constituyen un espectro de malformaciones anatómicas estructurales de etiología diversa, con severidad y pronóstico variable. Los factores de riesgo son disímiles, muchos modificables. Objetivo: identificar los factores de riesgo asociados a defectos de pared abdominal diagnosticados prenatalmente en la provincia de Matanzas. Materiales y métodos: se realizó una investigación de corte transversal sobre los factores de riesgo en las mujeres con diagnóstico de defectos de pared abdominal en la provincia Matanzas, de enero 2013 a enero 2016, a través de una encuesta, previa prueba piloto para cálculo de confiabilidad (alfa de Cronbach) y validez (regresión lineal). Resultados: el valor de ambos coeficientes fue superior a 0.7, por lo que la encuesta fue confiable y válida. Los factores de riesgo para estos defectos más frecuentes fueron la combinación de factores ambientales, no suplementación periconcepcional de ácido fólico y exposición a sustancias químicas. La necesidad de recibir información preconcepcional de las mujeres fue alta. Conclusiones: los factores de riesgo más frecuentes fueron la combinación de factores ambientales y la no suplementación periconcepcional de ácido fólico (AU).

Introduction: the defects of the abdominal wall are a spectrum of structural anatomic malformations of diverse etiology, with variable severity and prognosis. The risk factors are dissimilar, many of them modifiable. Objective: to identify the risk factors associated to abdominal wall defects diagnosed before birth in the province of Matanzas. Materials and methods: a cross-sectional research was carried out on the risk factors in women with diagnose of defects of the abdominal wall in the province of Matanzas, from January 2013 to January 2016, through an inquiry, after a pilot test to calculate reliability (Crombach alpha), and validity (lineal regression). Results: the value of both coefficients was higher than 0.7, so the inquiry was reliable and valid. The risk factors for these more frequent defects were the combination of environmental factors, the lack of peri conceptional supplementation of folic acid and exposition to chemical substances. The necessity of receiving pre-conceptional information from the part of the women was high. Conclusions: the more frequent risk factors were the combination of environmental factors and the lack of peri conceptional supplementation of folic acid (AU).

De la embriogénesis a la prevención de cardiopatías congénitas, defectos del tubo neural y de pared abdominal / From embryogenesis to the prevention of congenital cardiopathies, defects of the neural tube and the abdominal wall

Introducción: Los defectos congénitos constituyen una causa importante de mortalidad infantil y discapacidad. Las cardiopatías y los defectos del tubo neural y de la pared abdominal son de los más frecuentes. Objetivo: sistematizar los referentes teóricos sobre la embriogénesis y la epidemiología de estas anomalías del desarrollo, que contribuyan a la capacitación de médicos y estudiantes como promotores de salud. Materiales y Métodos: se realizó la revisión de 32 artículos científicos, búsqueda en la Biblioteca Virtual de Salud de Infomed, en las bases de datos Medline Complete, Pubmed Central, Clinical Key, Scielo regional y Scielo Cuba. La búsqueda se realizó entre los meses de octubre de 2014 y febrero de 2015, y quedó limitada a los últimos 8 años. Resultados: los defectos cardiacos se producen por fallas en la embriogénesis, entre la quinta y décima semanas de embarazo; los del tubo neural en la tercera y cuarta semana de embarazo y los de pared anterior entre la cuarta y la duodécima semana de embarazo. La etiología obedece a factores genéticos, ambientales y multifactoriales, y el riesgo de recurrencia depende de la causa. Existen tres niveles de prevención: preconcepcional, prenatal y postnatal. Conclusiones: el más importante es el preconcepcional, pues es el más eficaz, humano y económico.

Background: congenital defects are an important cause of infantile mortality and disability. Cardiopathies and defects of the neural tube and the abdominal wall are among the most frequent ones. Aim: systematizing theoretical referents on embryogenesis and epidemiology of these developmental anomalies, to contribute to physicians’ and students´ training as health promoters. Materials and methods: 32 scientific articles were reviewed, searching in the Health Virtual Library of Infomed, in the databases Medline Complete, Pubmed Central, Clinical Key, regional Scielo and Scielo Cuba. The search was made from October 2014 to February 2015, and was restricted to the last 8 years. Outcomes: heart defects are produced by failures in embryogenesis, between the fifth and the seventh weeks of pregnancy; the neural tube ones, between the third and fourth weeks of pregnancy, and the ones of the front wall, between the fourth and the twelfth weeks of pregnancy. Etiology is due to genetic, environmental and multifactorable reasons; the recurrence risk depends on the cause. There are three prevention levels: pre-conceptional, prenatal and postnatal. Conclusions: the most important level is the pre-conceptional one, because it is the most efficacious, human and economic.

Diagnóstico prenatal de onfalocele mediante ultrasonografía / Prenatal ultrasound diagnosis of omphalocele

El onfalocele es un defecto de la pared abdominal a nivel de la línea media caracterizado por la herniación de contenido abdominal y recubierto por peritoneo y amnios. El objetivo de esta comunicación es presentar un caso de onfalocele con edad gestacional de 23 sem y su diagnóstico prenatal por ultrasonografía. Mediante diagnóstico ecográfico en una pesquisa realizada a una paciente de 40 años de edad en el segundo trimestre (edad gestacional de 23 semanas), mostró a nivel de la pared anterior fetal imagen ecogénica que protruye a través de la pared abdominal y a continuación se localiza el cordón umbilical. Se observó estómago desplazado y pérdida de la anatomía normal de la circunferencia abdominal. Se realizó asesoramiento genético en el Centro Municipal de Genética de Manzanillo. Anatomopatológicamente el feto presentó cuello corto y ancho, orejas de implantación baja, defecto del cierre del conducto onfalomesentérico, saco herniario ocupado por el lóbulo cuadrado del hígado y lecho vesicular, corazón con base ancha que muestra a la disección cava-cava, ausencia de tabique interventricular, estenosis de la válvula pulmonar y dilatación supravalvular de la arteria pulmonar, defecto amplio del tabique intraventicular y aorta cabalgada, lo que habla a favor de una cardiopatía troncoconal del tipo trilogía de Fallop, más el onfalocele. El diagnóstico prenatal por ultrasonografía es un método eficaz y fiable para el diagnóstico prenatal de onfalocele.

Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient pesquiza made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Anatomopatolágicamente the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele.

Defectos de la pared abdominal. Estudio comparativo entre onfalocele y gastrosquisis / Abdominal wall defects. A Comparative investigation between omphalocele and gastroschisis

Introducción: Onfalocele y gastrosquisis son los defectos de la pared abdominal (DPA) más frecuentes, que por su importancia y las diferencias entre ellos merecen ser estudiados en forma especial. Objetivos: Establecer las tasas de prevalencia de onfalocele y gastroaquisis al nacimiento. Verificar variaciones de ellas en distintos períodos. Estudiar la morbimortalidad asociada y su sobrevida. Pacientes y Método: Se revisó la base de datos ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congênitas) para el período 1996-2010. Resultados: Se pesquizarón 33 recién nacidos (RN) con DPA. (11,6 por 10.000 nacimientos). De ellos 19 fueron onfalocele (6,7 por 10.000) y 14 (4,9 por 10.000) gastrosquisis. Los niños con onfalocele tenían significativamente mayor asociación con otras malformaciones, su frecuencia en el sexo masculino fue mayor y mostró mayor letalidad que la gastrosquisis. Todos los niños con gastrosquisis nacieron vivos, con predominio del sexo femenino, sus madres eran significativamente más jóvenes. Conclusión: Onfalocele y gastros-quisis presentaron una prevalencia al nacimiento mayor que lo publicado, probablemente por ser el HCUCH un Centro de Referencia. Ambas anomalías mostraron un aumento significativo en sus tasas de prevalencia al nacimiento al compararlas con las obtenidas anteriormente por nosotros en el mismo hospital. Se demostró diferencias significativas entre estas dos entidades: Onfalocele tiene mayor mortinatalidad, mortalidad y letalidad, mayor frecuencia de malformaciones asociadas y mayor promedio de edad materna.

Introduction: Omphalocele and Gastroschisis are the two most common congenital abdominal wall (AWD) defects. Objectives: To determine birth prevalence of Omphalocele and Gastroaquisis; to verify variations in different periods and to study the associated morbidity, mortality and survival. Patients and Method: The database of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) was searched between the years 1996 and 2010. Results: 33 newborns (NB) with AWD were investigated (11.6 per 10,000 births). 19 of the cases corresponded to omphalocele (6.7 per 10,000 births) and 14 to gastroschisis (4.9 per 10,000 births). Children with omphalocele had significantly greater association with other malformations and the frequency in males was higher and showed higher mortality rates than gastroschisis. All children with gas-troschisis were born alive; they were predominantly female infants whose mothers were significantly younger. Conclusion: Birth omphalocele and gastroschisis prevalence were higher than published information, perhaps due to the fact that the HCUCH (Clinical Hospital of Universidad de Chile) is a reference center. Both anomalies showed a significant increase in their birth prevalence rates when compared with those previously obtained by us in the same hospital. Significant differences between these two entities were described. Omphalocele presented higher stillbirth, mortality and fatality rates; higher frequency of associated malformations and higher average maternal age.

Single-stage repair of infected or contaminated abdominal wall defects and abdominal hernias with biological meshes / 国际外科学杂志

ObjectiveTo evaluate the safety and efficacy of biological meshes (human aceUular dermal matrix mesh) in single-stage repair of infected or contaminated abdominal abdominal wall defects and abdominal hernias. MethodsSeventeen patients with abdominal wall defects or abdominal hernias were enrolled. The wounds of all these patients were infected or contaminated due to the existence of enterocutaneous fistula or stoma, wound infection and synchronous colonic resection. The diagnosis included enterocutaeneous fistula 8 cases, incisional hernia 6 cases, incarcerated inguinal hernia 1 case and cylindrical abdominoperineal resection for rectal cancer for 2 cases. The sizes of abdominal defects ranged from 3 cm × 2 cm to 6 cm × 17 cm, and all the cases were repaired with human acellular dermal matrix mesh(RENOV(R)). Most of the patients were repaired with intraperitoneal onlay mesh technique( IPOM, for 12 cases), and other methods included Lichtenstein operation for 1 case, inlay repair for 2 cases and sublay for 2 cases. Results All the 17 patients recovered uneventfully. For 12 patients, the wounds were sutured at operation and only one case of delayed healing occurred due to fat liquefaction. For the other 5 patients, the wounds were left open and healed after vacuum assisted closure (VAC) therapy or wet- to- dry dressing changes. On follow up for 8.3 ±4.5 months ( 1 to 15 months), no occurrence of incisional hernia or recurrence was found. laxity of abdominal wall occurred in one case. A patient complained intermittent pain of the site of suture for mesh fixing two months after operation and the pain resolved spontaneously one month later. ConclusionsThe biological mesh, acellular dermal matrix mesh, could be used in single- stage repair of infected or contaminated abdominal wall defects safely and effectively, although the long-term outcome still needs further evaluation.

Tratamiento de los defectos de la pared abdominal (gastrosquisis y onfalocele) en el Hospital Universitario San Vicente de Paúl, Medellín, 1998-2006 / Management of abdominal wall defects (gastroschisis and omphalocele) at Hospital Universitario San Vicente de Paúl, in Medellín, Colombia, 1998-2006

Introducción: la gastrosquisis y el onfalocele son malformaciones de la pared abdominal en neonatos que, a pesar de sus grandes diferencias, tienen en común el hecho de ser enfermedades graves caracterizadas por la herniación de las vísceras intrabdominales a través de un defecto de la pared abdominal. Los niños con estas enfermedades se presentan como emergencias quirúrgicas que plantean un reto difícil para el cirujano tratante. Tienen una tasa de mortalidad que oscila entre 20- 40%, aun con el tratamiento apropiado y se asocian a un amplio rango de malformaciones, principalmente en los niños con onfalocele. Objetivo: el objetivo de la presente revisión retrospectiva es describir el tratamiento de los pacientes con gastrosquisis y onfalocele, y los resultados con él obtenidos, entre 1998 y 2006, en la Sección de Cirugía Pediátrica del Hospital Universitario San Vicente de Paúl (HUSVP), de Medellín. Pacientes y métodos: se evaluaron todos los pacientes que ingresaron al Servicio de Cirugía Pediátrica del HUSVP con diagnóstico de gastrosquisis u onfalocele, entre el 1 de enero de 1998 y el 31 de diciembre de 2006. Se definió el tipo de tratamiento llevado a cabo y, de acuerdo con este, se revisaron los resultados: las complicaciones posquirúrgicas, tales como infección del sitio operatorio, evisceración, sepsis, íleo e hipertensión intrabdominal; el tiempo de inicio de la vía oral y de la nutrición parenteral total (NPT); la permanencia en la unidad de cuidados intensivos (UCI) y la duración de la estancia hospitalaria Resultados: se identificaron 55 pacientes, 32 con gastrosquisis y 23 con onfalocele; en todos se hizo tratamiento quirúrgico. En 31 pacientes (56,4%) se hizo cierre primario y en 24 (43,6%), cierre por etapas; en esta última modalidad el procedimiento más utilizado fue el silo (12 niños; 50%). En 42 pacientes (76,4%) se presentaron complicaciones la más frecuente de las cuales fue la sepsis. La frecuencia de complicaciones asociadas...

Introduction: Gastroschisis and omphalocele are neonatal malformations of the abdominal wall. Despite thei r great di f ferences , both are severe di seases characterized by herniation of viscera through the defect in the abdominal wall. Children with these defects present as surgical emergencies that pose a difficult challenge to the attending surgeon. Even with appropriate management, the mortality rate is between 20-40%.Omphalocele and, to a lesser degree gastroschisis, are associated with a wide range of malformations. Objective: The aim of this retrospective review was to describe the management of children with gastroschisis or omphalocele, and the results obtained with it, at the Pediatric Surgery Section, Hospital Universitario San Vicente de Paúl, in Medellin, Colombia.Patients and methods: We evaluated the charts of all patients admitted to the Pediatric Surgery Section, between January 1, 1998 and December 31, 2006, with a diagnosis of gastroschisis or omphalocele. The type of treatment was defined as either primary closure or closure by stages; accordingly, we reviewed the results of the operation, the surgical complications (surgical site infection, evisceration, sepsis, ileus and intraabdominal hypertension), the time of onset of oral and total parenteral nutrition (TPN), and the duration of hospital and UCI stay Results: 55 patients were identified, 32 with gastroschisis and 23 with omphalocele, all of whom were surgically treated. In 31 patients (56.4%) primary closure was carried out, while in 24 (43.6%) the closure was done by stages; in the latter modality silo was most frequently used (12 cases). Complications, mostly sepsis, occurred in 42 patients (76.4%). The frequency of complications associated...

Fatores prognósticos para óbito em recém-nascidos com gastrosquise

Gastroschisis remains associated with an adverse outcome in developing countries and the factors associated with neonatal death are not known. The aim of this study was to determine the factors associated with neonatal death in cases of gastroschisis managed in a tertiary hospital in Brazil. It was included 49 cases of gastroschisis managed at IMIP, Recife - Brazil, between 1995 and 2001. The dependent variable was neonatal death and the independent variables were: prenatal diagnosis, route and site of delivery, gestational age, birthweight, birth-to-admission interval, birth-to-surgery interval, primary or staged-silo repair, need of mechanical ventilation and postoperative infection. Prevalence ratio (PR) and its 95% confidence interval of neonatal death was determined. Logistic regression analysis was performed to determine adjusted relative risk of neonatal death. Overall mortality was 53% (26 cases) and infection was the main cause of death (92%). Prenatal diagnosis was associated with significant reduction of 74% in the risk of death. This risk was significantly increased ( > twice) among newborns with gestational age below 37 weeks, birthweight below 2.5Kg and outborn babies. A significantly greater risk of neonatal death was observed for birth-to-admission interval of 2h or more and birth-to-surgery interval of 4h or more (2.5 and 3.4 times, respectively). Need of mechanical ventilation was associated with an increased risk of death (2.6 times). In multivariate analysis, variables that persisted strongly associated to neonatal death were gestational age below 37 weeks and birth-to-surgery interval greater than 4h. A high mortality was observed among babies of gastroschisis which is explained by factors like absence of prenatal diagnosis, prematurity, low birthweight, delivery outside the tertiary center, longer birth-to-surgery intervals and need of mechanical ventilation.

O prognóstico de gastrosquise permanece adverso nos países em desenvolvimento e os fatores associados a óbito não são conhecidos. O estudo objetivou avaliar os fatores associados com morte neonatal em casos de gastrosquise atendidos no IMIP. Foram incluídos 49 casos de gastrosquise atendidos no IMIP, Recife-Brasil, entre 1995 e 2001. A variável dependente foi morte neonatal e as independentes foram: diagnóstico pré-natal, local e tipo de parto, idade gestacional, peso ao nascer, intervalo entre parto e admissão e parto-cirurgia, correção cirúrgica primária ou em estágios, necessidade de ventilação mecânica e infecção pós-operatória. Calculou-se a razão de prevalência (RP) de morte neonatal com intervalo de confiança a 95%, realizando-se análise de regressão logística para determinar o risco ajustado de óbito. A mortalidade foi de 53% (26 casos), sendo infecção a principal causa de óbito (92%). O diagnóstico pré-natal associou-se com significante redução (74%) do risco de morte. Esse risco foi significantemente aumentado ( > 2 vezes) para RNs, com peso menor que 2,5Kg e provenientes de outros hospitais. Também verificou-se aumento significante do risco para o intervalo entre parto-admissão e parto-cirurgia maior que duas e quatro horas (respectivamente, 2,5 e 3,4). O risco de morte foi 2,6 vezes maior nos casos com ventilação mecânica. Na análise multivariada, persistiram associadas ao óbito a prematuridade e o intervalo entre parto e cirurgia maior que 4h. Observou-se uma elevada mortalidade entre recém-nascidos com gastrosquise, que pode ser explicada por fatores como ausência de pré-natal, prematuridade, baixo peso, parto fora dos centros terciários, longos intervalos entre parto e cirurgia e necessidade de ventilação mecânica.

The Value of Ultrasound in Diagnosing Fetal Congenital Digestive Tract Abnormalities and Abdominal Wall Defects / 实用放射学杂志

Objective To evaluate the value of ultrasound in diagnosing congenital digestive tract abnormalities and abdominal wall defects.Methods The OB ultrasound examinations of 136 cases with digestive tract abnormalities and 41 cases of abdominal wall defects were analyzed , those cases came from Alta Bates Perinatal Diagnostic center , Oakland, California USA during 5 years recently.Results In 136 cases of digestive tract abnormalities, 9 cases were esophageal atresia, 19 cases were duodenal atresia, 12 cases were jejunal atresia, 68 cases were echogenic bowel, 19 cases were meconium peritonitis, 9 cases were diaphragmatic hernia. In 41 cases of abdominal wall defects, 11 cases were gastroschisis, 18 cases were omphalocele, 12 cases were amniotic band syndrome. Each type had its special image feature,which is correlated to errors in embryonic developments. Conclusion Many digestive tract abnormalities and abdominal wall defects can be readily detected and diagnosed by ultrasound . Ultrasound is valuable in diagnosing fetal congenital digestive tract abnormalities and abdominal wall defects.