Caso Clínico: Meningohidroencefalocele Gigante / Case Report: Giant Meningohydroencephalocele

INTRODUCCIÓN: Los encefaloceles son una anomalía congénita rara, que afecta a 1 de cada 5 000 nacidos vivos. Un meningohidroencefalocele es la herniación de meninges, ventrículos y parte del encéfalo a través de un defecto congénito en el cráneo. El pronóstico de los recién nacidos con encefalocele depende de varios factores. La corta edad y las anomalías congénitas asociadas en estos pacientes plantean desafíos en el diagnóstico y manejo. CASO CLÍNICO: Recién nacido masculino, nacido a las 37 semanas de gestación, por cesárea de emergencia por parto en fase latente, presentado una masa de gran tamaño, sobre la región parieto-occipital, de bordes lobulados, irregulares, cubierta en parte por cuero cabelludo, y en otras zonas de un tono rojo violáceo. El neonato fue poco reactivo, con tono disminuido, llanto ausente. EVOLUCIÓN: Tras valoración del caso por especialistas, debido al importante defecto de la calota craneal y las anomalías estructurales cerebrales, el paciente no fue candidato para tratamiento quirúrgico. Neonato fue dado de alta con expectativa de vida reducida, para recibir cuidados en el hogar. CONCLUSIÓN: El meningohidroencefalocele gigante es un defecto del tubo neural poco frecuente. El manejo de las encefaloceles puede ser complicado y debe ser individualizado y dependerá de las estructuras anatómicas comprometidas. Si bien en este caso el pronóstico fue malo, siempre es necesario el trabajo multidisciplinario para un adecuado manejo.

BACKGROUND: Encephaloceles are a rare congenital anomaly, affecting 1 in 5 000 live births.A meningohydroencephalocele is the herniation of the meninges, ventricles, and part of the brain through a congenital defect in the skull. The prognosis of newborns depends on several factors. The young age and the associated congenital anomalies in these patients contribute to the diagnostic and treatment challenge. CASE REPORT: Male newborn, born at 37 weeks of gestation, by emergency C-section due to latent labor, presenting a large mass over the parieto-occipital region, with lobed, irregular edges, partially covered by the scalp, and in other areas a purplish red tone. The newborn was no very reactive, had decreased tone, absent crying. EVOLUTION: After specialist's evaluation, due to the significant defect in the cranial shell and the structural brain abnormalities, the patient was not a candidate for surgical treatment. The newborn was discharged with a reduced life expectancy, to receive care at home. CONCLUSION: giant meningohydroencephalocele is a rare neural tube defect. The management of encephaloceles can be complicated and must be individualized, and will depend on the anatomical structures involved. Although in this case the prognosis was bad, multidisciplinary work is always necessary for proper management.

Prevalence of fetal and neonatal mortality due to congenital anomalies in the state of Maranhão, Brazil, from 2001-2016

Introduction: The infant mortality rate (IMR) is an important health indicator directly associated with living conditions, prenatal care coverage, social development conditions, and parental education, among others. Worldwide, the infant mortality rate was 29/1000 live births in 2017. Therefore, this study aimed to evaluate the fetal and infant mortality rates due to congenital anomalies (CA) in Maranhão from 2001 to 2016. Methods: Data were obtained from the SINASC, and SIM databases. We used simple linear regression, Poisson distribution, and ANOVA (Bonferroni's post hoc test). We analyzed the public data (2001­2016) of 1934858 births and determined the fetal, neonatal, perinatal, and post-neonatal mortality rates associated with CA by mesoregions. Results: The IMR in Maranhão was 17.01/1000 live births (95%CI, 13.30-20.72) and CA was the cause of death in 13.3% of these deaths. Mortality due to CA (per 1000 live births) was 0.76 (95%CI, 0.74­0.85) for fetal mortality rate and 2.27 (95%CI, 1.45-3.10) for infant mortality rate. Geographic and temporal variations were observed with a slight increase in recent years for deaths attributable to CA, and in the northern part of Maranhão. Conclusions: Mortality rates due to CA in Maranhão increased over the period 2001­2016 possibly as a result of improved maternal-infant health conditions eliminating other causes of death. Therefore, efforts to improve early diagnosis and better treatment of congenital anomalies should be considered to reduce its impact on child mortality. (AU)

Mortalidad infantil en la Cuenca Matanza Riachuelo. Comparación con la Ciudad de Buenos Aires, la provincia de Buenos Aires y la Argentina (de 2010 a 2017)Infant mortality in the Matanza-Riachuelo / River Basin. Comparison with the Autonomous City of Buenos Aires, the province of Buenos Aires, and Argentina (2010-2017)

Introducción. La tasa de mortalidad infantil (TMI) es un indicador de salud y de condiciones socioeconómicas, ambientales y sanitarias. Basurales a cielo abierto y desechos cloacales e industriales hacen de la Cuenca Matanza Riachuelo (CMR) la más contaminada de Argentina.Objetivo. Analizar la mortalidad infantil (MI) en la CMR en comparación con Argentina, provincia de Buenos Aires (PBA) y Ciudad Autónoma de Buenos Aires (CABA), y la evolución entre los años 2010 y 2017.Población y métodos. Estudio descriptivo a partir de datos del Ministerio de Salud de la Nación.Resultados. En 2017, la TMI en la CMR fue del 9,4 ‰; en Argentina, del 9,3 ‰; en PBA, del 9,4 ‰, y, en CABA, del 6,9 ‰. Entre 2010 y 2017, se observó una disminución de la TMI en la CMR del 20,6 %, similar a PBA y Argentina. En CABA, no hubo descenso.En las 4 jurisdicciones, las afecciones perinatales representaron la primera causa de muerte, seguidas por las malformaciones congénitas y las enfermedades respiratorias. Solo para enfermedad respiratoria, en la CMR, el riesgo fue 4 veces mayor que en CABA (riesgo relativo: 3,9; intervalo de confianza del 95 %: 1,4-10,7).Conclusión. La estructura de causas, la evolución y el riesgo de MI en la CMR, Argentina y PBA fueron similares entre 2010 y 2017. CABA presentó una TMI menor que CMR, pero no mostró descensos. El riesgo de MI en la CMR fue mayor que en CABA a expensas del mayor riesgo por enfermedad respiratori

Introduction. Infant mortality rate (IMR) is an indicator of health and socioeconomic, environmental, and health care conditions. Open dumps and sewage and industrial waste make the Matanza-Riachuelo River Basin the most polluted in Argentina.Objective. To analyze infant mortality (IM) in the Matanza-Riachuelo River Basin compared to Argentina, the province of Buenos Aires (PBA), and the Autonomous City of Buenos Aires (CABA), and its evolution between 2010 and 2017.Population and methods. Descriptive study based on data from Argentina's Ministry of Health.Results. In 2017, the IMR was 9.4 ‰ in the Matanza-Riachuelo River Basin; 9.3 ‰ in Argentina; 9.4 ‰ in PBA; and 6.9 ‰ in CABA. Between 2010 and 2017, the IMR in the Matanza-Riachuelo River Basin decreased by 20.6 %, similar to PBA and Argentina. No reduction was observed in CABA.In the 4 jurisdictions, perinatal conditions were the leading cause of death, followed by congenital malformations and respiratory diseases. For respiratory diseases only, the risk in the Matanza-Riachuelo River Basin was 4 times higher than in CABA (relative risk: 3.9; 95 % confidence interval: 1.4-10.7).Conclusion. The structure of causes, evolution, and risk of IM in the Matanza-Riachuelo River Basin, Argentina, and PBA was similar between 2010 and 2017. IMR was lower in CABA than in the Matanza-Riachuelo River Basin, but no reduction was observed in the former. The risk of IM was higher in the Matanza-Riachuelo River Basin than in CABA, at the expense of the increased risk of respiratory disease

Comportamiento de la mortalidad en el hospital infantil Dr. Robert Reid Cabral, Santo Domingo, República Dominicana, período 2013- 2017 / Mortality behavior at Dr. Robert Reid Cabral Children's Hospital. Santo Domingo, Dominican Republic, 2013-2017

Introducción: el análisis de la mortalidad hospitalaria permite evaluar la calidad de la asistencia médica. Las últimas publicaciones sobre mortalidad en el Hospital Infantil Dr. Robert Reid Cabral datan de 1997 Objetivo: conocer el comportamiento de la mortalidad en el Hospital Infantil Dr. Robert Reid Cabral durante el periodo 2013­2017 Métodos: estudio descriptivo. Se revisaron los libros de registro y actas de defunciones de los pacientes fallecidos en el Hospital Dr. Robert Reid Cabral durante el periodo 2013­2017. Resultados: 3,800 pacientes fallecieron, en promedio 760 fallecidos por año (margen 679-868). 79.9 % con menos de 5 años de edad; las muertes en menores de 1 año de edad representaron el 61.3 % y en el periodo neonatal el 26.1 %. La Sepsis/Shock Séptico (43.4 %) y la Hemorragia Pulmonar (15.4 %) fueron los dos principales diagnósticos de defunción; el 34 % de los fallecidos presentaban una morbilidad asociada al diagnóstico de defunción y en el 40 % la morbilidad asociada era una malformación congénita. El 69.5 % fallecieron en la Unidad de Cuidados Intensivos Pediátricos o Neonatal y 40 % de los pacientes fallecieron antes de las 48 horas de su ingreso al hospital. Conclusión: el grupo etario de mayor mortalidad son los menores de 1 año de edad, se evidencia un alto porcentaje de muertes con enfermedad crónica y malformaciones congénitas asociadas. El hecho de que el 40 % de los pacientes fallecieran antes de las 48 horas de su ingreso, indica la condición de gravedad en que estos pacientes llegan al hospital

Introduction: the analysis of hospital mortality allows to evaluate the quality of medical care. The latest publications on mortality at Dr. Robert Reid Cabral Children's Hospital date from 1997. Objective: to know the behavior of mortality in the Dr. Robert Reid Cabral Children's Hospital during the period 2013-2017. Methods: descriptive study. Registration books and death certificates of deceased patients at Dr. Robert Reid Cabral Hospital during 2013-2017 were reviewed. Results: 3,800 patients died, on average 760 deaths per year (margin 679-868). 79.9 % with less than 5 years of age; deaths in children under 1 year of age represented 61.3 % and in the neonatal period 26.1 %. Sepsis / Septic Shock (43.4 %) and Pulmonary Hemorrhage (15.4 %) were the two main diagnoses of death; 34 % of the deceased had a morbidity associated with the diagnosis of death and in 40 % the associated morbidity was a congenital malformation. 69.5 % died in the Pediatric or Neonatal Intensive Care Unit and 40 % of the patients died within 48 hours of admission to the hospital. Conclusion: the age group with the highest mortality are those under 1 year of age, a high percentage of deaths with chronic disease and associated congenital malformations are evident. The fact that 40 % of patients died before 48 hours of admission indicates the serious condition in which these patients arrive at the hospital.

Tendências recentes dos óbitos fetais por malformações congênitas: um estudo descritivo / Recent trends in fetal death due to congenital malformations: a descriptive study / Tendencias recientes de los óbitos de fetos por malformaciones congénitas: un estudio descriptivo

Este artigo se baseia em um estudo de série temporal sobre os óbitos fetais por malformações congênitas no estado do Maranhão relativo ao período de 2006 a 2016. Foram construídos indicadores epidemiológicos para estimar o risco de morte fetal e sua tendência ao longo da série estudada. Os dados são provenientes do Departamento de Informática do SUS e sua análise realizada por modelos de regressão linear. Foram registrados 17.843 óbitos fetais no período abordado pelo estudo, 528 dos quais decorrentes de malformações congênitas (2,96%). Observou-se uma tendência significativa de aumento do coeficiente de mortalidade fetal geral, correspondente a 6,99% (ß1=0,17; p=0,004) e do específico por malformações congênitas, equivalente a 5,13% (ß1=0,01; p=0,04). Os resultados deste estudo corroboram a tendência histórica dos serviços de saúde negligenciarem os óbitos fetais. É importante destacar que parte destes óbitos são preveníveis e potencialmente evitáveis. Desse modo, a implementação dos comitês de investigação de óbitos fetais e infantis e a sua vigilância adequada poderiam melhorar a assistência prestada tanto no pré-natal quanto no parto.

This article bases on a time series study about fetal deaths due to congenital malformations in the state of Maranhão, Brazil, occurred from 2006 to 2016. Epidemiological indicators were constructed to estimate the risk of fetal death and its trend throughout the series studied. The data were obtained in the Department of Informatics of SUS and analyzed by linear regression models. There were 17,843 fetal deaths during the analysed period, from which 528 were a direct result of congenital malformations (2.96%). A significant tendency towards an increase in the coefficient of general fetal mortality corresponding to 6.99% (ß1=0.17; p=0.004) and in the coefficient of specific fetal mortality due to congenital malformations equivalent to 5.13% (ß1=0.01; p=0.04) were observed. The end results of this study corroborate the historical trend toward negligence in Brazilian health centres with regard to fetal deaths. It is important to remark that some of these deaths can be presumed and potentially preventable. Thus, the implementation of the fetal and infant death investigation committees and their adequate surveillance could improve care during prenatal and delivery.

Este artículo se basa en un estudio de serie temporal acerca de muertes de fetos por malformaciones congénitas en el estado de Maranhão, Brasil, concerniente al periodo de 2006 a 2016. Se construyeron indicadores epidemiológicos para estimar el riesgo de la muerte fetal y su tendencia a lo largo de la serie estudiada. Los datos son provenientes del Departamento de Informática del SUS y fueron analizados por modelos de regresión lineal. Se registraron 17.843 muertes de fetos en el período estudiado, de los cuales 528 fueron resultado de malformaciones congénitas (2,96%). Se observó una tendencia significativa al aumento del coeficiente de mortalidad fetal general correspondiente a 6.99% (ß1=0,17; p=0,004) y del específico, por malformaciones congénitas, equivalente a 5,13% (ß1=0,01; p=0,04). Los resultados del estudio corroboran la tendencia histórica a la negligencia de los centros de salud brasileños con respecto a las muertes de los fetos. Por su importancia debemos destacar que parte de esas muertes son presumibles y pueden ser evitadas. De ese modo, la implementación de los comités de investigación de muertes de fetos y infantiles y su vigilancia adecuada podrían mejorar la asistencia prestada en el prenatal y en el parto.

Prevalence and outcomes of birth defects in newborns of South Wollo and Oromia zones of Amhara regional state: a retrospective study

Background: Congenital malformations (CMs) are structural and functional anomalies that have a significant but under-recognized cause of mortality and morbidity among infants and children under 5 years of age. CMs are not only life threatening, but also result in long-term disabilities that negatively affect individuals, families, health care systems and societies. Objectives: The purpose of this study was to describe the prevalence and outcomes of birth defects in newborns of South Wollo and Oromia zones of Amhara regional state. Methods: A retrospective cross-sectional study was done in three hospitals of South Wollo and Oromia zones, where 22,624 infants were born between January 2015 and December 2017. The presence and type of birth defects in the infants, as well as their outcomes, were identified by reviewing the medical records of their mothers. Medical records with incomplete information were excluded from the study. The data were collected using a pre-tested checklist for data collection. Results: A total of 22,624 infants were born during the study period. Three hundred and twenty-four (1.43%) newborns were delivered with birth defects. Anomalies of the central nervous system (CNS) were the most frequent type of birth defect (43.2%), followed by defects of the musculoskeletal system (19.7%), orofacial malformations (11.0%) and gastrointestinal system anomalies (6.1%). Most of the malformed infants were born from mothers with a history of alcohol intake (55.8%), lack of iron and folic acid supplementation (58.4%), family history of birth defects (58.7%) and history of diseases during pregnancy (53.5%). The outcomes of newborns with birth defects were significantly affected by the type of birth defect, gestational age, weight of the newborn and presence of twin pregnancy (p-value ≤0.05). Conclusions: The prevalence of CNS anomalies was the highest, followed by musculoskeletal system anomalies. The type of birth defect, gestational age, weight of newborn and twin pregnancy significantly affected outcomes of the newborns with congenital anomalies. Therefore, in order to reduce the prevalence of CMs, the identification and management of risk factors should be the focus of stakeholders

Malformations congénitales visibles à la maternité des Cliniques Universitaires de Kinshasa

Introduction: L'importance des malformations congénitales dans la morbidité et la mortalité périnatales est telle que, cette pathologie constitue un problème de santé publique. Cette étude vise à établir la cartographie des malformations congénitales visibles à la Maternité des Cliniques Universitaires de Kinshasa.Méthodologie:Etude transversaledescriptive, réalisée à la Maternité des Cliniques Universitaires de Kinshasa a été conduitede Janvier 2009 à Décembre 2011, à partir de 1513 dossiers des accouchées. Nous avons analysé les paramètres concernant les nouveau-nés portant des malformations congénitales visibles ainsi que leurs mères. Résultats: 5,1% des nouveau-nésavaient desmalformations congénitales visibles. Les malformations congénitales visibles étaient plus rencontrées chez les nouveau-nés des mères d'âges extrêmes. Le sexe masculin est plus représenté (60,8%). L'hydrocéphalie (24,1%), suivie de l'imperforation anale (17,7%), l'Omphalocele (15,2%) et le Spina bifida (8,9%) sont les malformations les plus rencontrées dans cette série. Conclusion: Cette étude montre que les malformations congénitales visiblessont un fléau à la Maternité des Cliniques Universitaires de Kinshasa et pousse donc àmener d'autres études pour en rechercher les causes

Estudo de base populacional sobre mortalidade infantil / Population-based study on infant mortality

Resumo Embora o Brasil tenha diminuído na última década as disparidades sociais, econômicas e de indicadores de saúde, as diferenças intra e inter-regionais das taxas de mortalidade infantil (TMI) persistem em regiões como a capital do estado de Mato Grosso. Estudo de base populacional que objetivou investigar fatores associados à mortalidade infantil em cinco coortes de nascidos vivos (NV) de mães residentes em Cuiabá (MT), Brasil, 2006-2010, através de linkage probabilístico em 47.018NV. Utilizou-se regressão logística, por meio de análise hierarquizada. Dos 617 óbitos infantis, 48% ocorreram no período neonatal precoce. A TMI variou de 14,6 a 12,0 óbitos por mil NV. Permaneceram independentemente associados ao óbito: mães sem companheiro (OR = 1,32); baixo número de consultas de pré-natal (OR = 1,65); baixo peso ao nascer (OR = 4,83); prematuridade (OR = 3,05); Apgar ≤ 7 no 1º minuto (OR = 3,19); Apgar ≤ 7 no 5º minuto (OR = 4,95); malformação congênita (OR = 14,91) e sexo masculino (OR = 1,26). Houve redução da mortalidade infantil em Cuiabá, porém, há necessidade de direcionamento de políticas públicas de saúde de assistência no período pré-natal e perinatal para alcançar a diminuição da mortalidade neonatal precoce e novos estudos para identificar quais as causas de óbitos evitáveis.

Abstract Although Brazil has reduced social, economic and health indicators disparities in the last decade, intra- and inter-regional differences in child mortality rates (CMR) persist in regions such as the state capital of Mato Grosso. This population-based study aimed to investigate factors associated with child mortality in five cohorts of live births (LB) of mothers living in Cuiabá (MT), Brazil, 2006-2010, through probabilistic linkage in 47,018 LB. We used hierarchical logistic regression analysis. Of the 617 child deaths, 48% occurred in the early neonatal period. CMR ranged from 14.6 to 12.0 deaths per thousand LB. The following remained independently associated with death: mothers without companion (OR = 1.32); low number of prenatal consultations (OR = 1.65); low birthweight (OR = 4.83); prematurity (OR = 3.05); Apgar ≤ 7 at the first minute (OR = 3.19); Apgar ≤ 7 at the fifth minute (OR = 4.95); congenital malformations (OR = 14.91) and male gender (OR = 1.26). CMR has declined in Cuiabá, however, there is need to guide public healthcare policies in the prenatal and perinatal period to reduce early neonatal mortality and further studies to identify the causes of preventable deaths.

Análisis de los factores de riesgo de muerte neonatal en Chile, 2010-2014 / Analysis of risk factors for neonatal death in Chile, 2010-2014

Introducción: Los indicadores de salud materno-infantil son un reflejo del nivel de salud alcanzado, nivel de vida y el estado de desarrollo de un país. El período de mayor riesgo de muerte durante el primer año de vida es la etapa neonatal. Objetivo: Analizar los factores sociodemográficos y fisiopatológicos maternos y del recién nacido asociados a la mortalidad neonatal en un hospital terciario de Chile. Pacientes y Método: Estudio retrospectivo de los casos (muerte neonatal) y controles (nacidos vivos) nacidos en el periodo 2010-2014. Se realizó un pareamiento en una proporción 1:2 por año, mes de nacimiento y sexo. Mediante la revisión de fichas clínicas y bases de datos existentes se analizaron las variables sociodemográficas y fisiopatológicas de la madre y del recién nacido. Resultados: Durante el período de estudio ocurrieron 81 muertes neonatales, con una tasa estimada de 5,8 por mil nacidos vivos. Se accedió a 65 casos que se compararon con 130 controles. Las principales causas de muerte correspondieron a la prematurez y malformaciones congénitas. Se encontró que la presencia de parto prematuro (OR: 3; IC95% 1,1-8,7), recién nacido pequeño para la edad gestacional (OR: 4; IC95% 1,7-12,1), puntaje Apgar al minuto entre 4-7 (OR: 4; IC95% 1,8-10,5), actividad materna fuera del hogar (OR: 4; IC95% 2,3-8,7), y parto por cesárea (OR: 3; IC95% 1,5-5,6) fueron los factores de riesgo más prevalentes. Conclusión: La mortalidad neonatal se asocia a prematurez. Es necesario seguir dirigiendo los esfuerzos a la prevención del parto prematuro.

Aim: To analyze socio-demographic as maternal and newborn factors associated with neonatal mortality in a tertiary hospital in Chile. Patients and Method: A retrospective analysis of case (neonatal death) and control (live births) was performed. A match 1:2 proportion considering year, month of birth and gender was made. By reviewing medical records and existing databases, we analyzed sociodemographic and pathophysiological variables of the mother and their newborn in a period between 2010 and 2014. Results: During the period of study 81 neonatal deaths occurred in the hospital, with an estimated rate of 5.8 per thousand live births. Sixty-five cases were recruted, who were compared with 130 controls. The main causes of death were prematurity and congenital malformations. It was found that the presence of preterm birth (OR: 3; 95% CI 1.1-8.7), newborn small for gestational age (OR: 4; 95% CI 1.7-12.1) Apgar score at minute 4-7 (OR: 4; 95% CI 1.8-10.5), maternal activity outside the household (OR: 4; 95% CI 2.3-8.7), and cesarean delivery (OR: 3; 95% CI 1.5-5.6) were the most prevalent risk factors. Conclusion: Neonatal mortality is associated with prematurity. Therefore it is of relevance to continue promoting efforts to prevent preterm birth.

Epidemiology of congenital abnormalities in West Africa: results of a descriptive study in teaching hospitals in Abidjan: Cote d'Ivoire

Background: Congenital abnormalities constitute one of the major causes of infant mortality; particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d'Ivoire. Materials and Methods: It was a multicentric study of three academic hospitals and the Heart Institute of Abidjan over 10 years. The epidemiologic Data concerned the Parturients; the annual frequency of congenital abnormalities. Distribution of the congenital abnormalities according to the organs; overall mortality and lethality of congenital abnormalities were evaluated. Results: Over 10 years; 1.632 newborns with 1.725 congenital anomalies were recorded. Frequency was 172.5 congenital anomalies per annum. Parturients were less than 35 years in 33% of cases; multigravida in 20%; multiparous in 18% and had a low socio economic status in 96% of cases. Prenatal diagnosis of congenital anomalies was performed in 1.5%. Congenital anomalies were orthopedic in 34%; neurological in 17%; gastrointestinal in 15%; facial in 11.5%; parietal in 13%; urogenital in 9% and cardiac in 0.5% of cases. The overall mortality rate of congenital anomalies was 52% and gastroschisis was the most lethal disease with 100% mortality. Conclusion: This descriptive study reveals the low socio economic status of Parturients with congenital anomalies and their poor prenatal diagnosis. These factors explain the very high mortality of congenital anomalies due to a delay management in our country in which medical expenses were borne by parents and where technical platforms remain obsoletes for good resuscitation and neonatal surgery

Morbilidad y mortalidad por malformaciones congénitas del sistema nervioso central en menores de un año / Morbidity and mortality caused by congenital malformations of the central nervous system in children under a year

Se realizó un estudio descriptivo, transversal y retrospectivo durante 2012 de 46 pacientes con malformaciones congénitas del sistema nervioso central, pertenecientes a la provincia de Santiago de Cuba, con vistas a caracterizar aspectos relacionados con la morbilidad y la mortalidad por esta causa. El municipio Santiago de Cuba fue el de mayor incidencia y la hidrocefalia la anomalía más frecuente; asimismo, la mortalidad fetal e infantil por estos defectos presentó tasas de 0,3 y 0,1, respectivamente. Se demostró que dichas malformaciones tienen baja incidencia en estos indicadores, lo cual confirma la importancia del diagnóstico prenatal.

A descriptive, cross-sectional and retrospective study was carried out during 2012 in 46 patients with congenital malformations of the central nervous system, belonging to Santiago de Cuba province, with the aim of characterizing aspects related to the morbidity and the mortality for this cause. Santiago de Cuba municipality was that of higher incidence, and hydrocephaly the most frequent anomaly; also, the fetal and child mortality obtained for these defects showed rates of 0.3 and 0.1, respectively. It was demonstrated that this malformations have low incidence in these indicators, which confirms the importance of the prenatal diagnosis.

Mortalidad infantil por defectos congénitos en Costa Rica, 1981-2010 / Infant mortality from birth defects in Costa Rica, 1981-2010

OBJETIVO: Identificar las tendencias y el impacto de los diferentes tipos de defectos congénitos (DC) en la tasa de mortalidad infantil (TMI) y neonatal (TMN) en Costa Rica para el período 1981-2010. MÉTODOS: Se analizaron datos del Centro Centroamericano de Población, que utiliza las versiones 9 y 10 de la Clasificación Internacional de Enfermedades para clasificar las causas de defunción. Se analizaron tendencias de mortalidad infantil, neonatal y residual. Para cada grupo de DC se construyó un modelo de regresión Poisson Log Lineal. Se obtuvieron las TMI y las TMN y los riesgos relativos correspondientes a las tres décadas 1981-1990, 1991-2000 y 2001-2010, con sus intervalos de confianza de 95% (IC95%). Los estimados se compararon mediante chi cuadrado de Wald. RESULTADOS: Al comparar la década de 1980 con la del 2000, la TMN y la TMI por DC presentó una disminución significativa de 2,37 (IC95%: 2,26-2,48) a 2,13 (2,03-2,23) y de 4,13 (3,99-4,27) a 3,18 (3,05-3,31), respectivamente. Los grupos de DC que registraron una reducción significativa en la TMI fueron: sistema nervioso, digestivo y circulatorio. Con excepción del sistema circulatorio, estos grupos experimentaron una caída significativa en la TMN. En el resto de los grupos se registró un aumento significativo o no hubo cambio. CONCLUSIONES: Se ha producido una disminución de la TMI y la TMN por DC, aunque proporcionalmente estas tasas han crecido debido a un mayor descenso de las otras causas. Esta reducción es mucho menor en la mortalidad neonatal. Se debe fortalecer la prevención primaria y la atención neonatal de los DC.

OBJECTIVE: Identify trends for different types of birth defects and their impact on infant (IMR) and neonatal (NMR) mortality rates in Costa Rica from 1981 to 2010. METHODS: Infant, neonatal, and postneonatal mortality trends were analyzed, using data from the Central American Population Center, which uses the International Classification of Diseases, versions 9 and 10, to classify causes of death. For each group of birth defects, a Poisson log-linear regression model was constructed. IMR and NMR, relative risk, and 95% confidence intervals (95%CI) were calculated for the three decades (1981-1990, 1991-2000, and 2001-2010). Estimates were compared using Wald chi square. RESULTS: Comparison of the 1980s and the 2000s found a significant decrease in NMR and IMR from birth defects in these decades, from 2.37 (95%CI: 2.26-2.48) to 2.13 (2.03-2.23) and from 4.13 (3.99-4.27) to 3.18 (3.05-3.31), respectively. Reduction in IMR was significant for birth defect groups for nervous, digestive, and circulatory systems. There was also a significant drop in NMR for nervous and digestive system groups. All other groups experienced a significant increase or no change. CONCLUSIONS: IMR and NMR from birth defects have decreased, although these rates have increased proportionately due to a greater decline in other causes. This reduction is much smaller for neonatal mortality. Primary prevention and neonatal care of birth defects should be strengthened.

Birth defects in India: Hidden truth, need for urgent attention.

Birth defects (structural, functional and metabolic disorder present from birth, may be diagnosed later) rising up as an important cause of infant mortality even in developing countries where infant mortality has been reduced to much extent. Seventy percent of birth defects are preventable through the application of various cost effective community genetic services. Indian people are living in the midst of risk factors for birth defects, e.g., universality of marriage, high fertility, large number of unplanned pregnancies, poor coverage of antenatal care, poor maternal nutritional status, high consanguineous marriages rate, and high carrier rate for hemoglobinopathies. India being the second most populous country with a large number infant born annually with birth defects should focus its attention on strategies for control of birth defects. Many population based strategies such as iodization, double fortification of salt, flour fortification with multivitamins, folic acid supplementation, periconceptional care, carrier screening and prenatal screening are some of proven strategies for control of birth defects. Strategies such as iodization of salt in spite of being initiated for a long time in the past do have a very little impact on its consumption (only 50% were using iodized salt). Community genetic services for control of birth defects can be easily flourished and integrated with primary health care in India because of its well established infrastructure and personnel in the field of maternal and child health care. As there is wide variation for infant mortality rate (IMR) in different states in India, so there is a need of deferential approach to implement community genetic services in states those had already achieved national goal of IMR. On the other hand, states those have not achieved the national goal on IMR priority should be given to management of other causes of infant mortality.

Anomalías nefrourológicas congénitas en niños hospitalizados / Nephrourological congenital anomalies in children hospitalized

Introducción : las anomalías congénitas nefrourológicas se encuentran en segundo lugar en frecuencia entre las malformaciones detectadas por ecografía prenatal. La importancia del diagnóstico precoz radica en la posibilidad de prevenir infecciones urinarias, corregir la obstrucción urinaria y evitar o enlentecer el deterioro de la función renal. En nuestro país, el 30,4% de los menores de 15 años en diálisis crónica tiene una insuficiencia renal por nefrouropatía malformativa. Los objetivos fueron conocer la tasa de hospitalización, describir las características clínicas y evolutivas de los niños hospitalizados con diagnóstico ecográfico pre y postnatal de malformación nefrourológica. Material y métodos: estudio descriptivo, prospectivo. Se incluyeron los niños con ecografía del aparatourinario patológica hospitalizados en el sector de cuidados moderados del HP-CHPR entre 01/07/2012 y el 30/6/2013, se excluyeron aquellos con disfunción vesical o glomerulopatía crónica. Se valoró: edad, sexo, hallazgo ecográfico, diagnóstico nosológico, manifestaciones clínicas, evolución y tratamiento. Resultados: se incluyeron 44 niños, la tasa de hospitalización fue 3.9‰, relación masculino/femenino 1,9/1; la mediana de edad 23 meses (percentil 75: 91 meses). Se realizó ecografía prenatal en 36/44, de las cuales 18 fueron patológicas. Se controlaron ecográficamente luego del nacimiento 11/18. En los 26 pacientes restantes, el diagnóstico ecográfico se realizó en la etapa postnatal previo a la internación en 15 y durante la hospitalización en 11. El número de malformaciones halladas fue 66; 22 fueron bilaterales. Predominaron el reflujo vésicoureteral(n=19), las obstrucciones (n=15), y la agenesia/displasia renal (n=18). Requirieron tratamiento quirúrgico 21, endoscópico seis.(...)

Introduction: congenital abnormalities of urinary tract andkidneys rank second in frequency of structuralabnormalities on antenatal ultrasound. Early diagnosisallows to prevent urinary tract infections, to treat urinarytract obstruction and to avoid or slow the decline in renalfunction. In our country 30,4% of patients younger than 15years old on chronic dialysis have a kidney failurebecause of a congenital abnormality.The aims of this study were to know the hospitalizationrate and to describe clinic and evolutionary characteristicsof hospitalized children with a congenital abnormality ofurinary tract and kidneys diagnosed by antenatal/postnatal ultrasound.Patients and methods: a descriptive and prospectivestudy was performed. Hospitalized children in HP-CHPR,between 01/07/2012 and 30/06/2013, with pathologicultrasound of kidneys or urinary tract, were included.Children with bladder dysfunction or glomerulopathy wereexcluded. We considered age, gender, ultrasoundfindings, definitive diagnosis, clinic manifestations,treatment and outcome.Results: we included 44 children. Hospitalization rate was3.9 0/00, the relation male/female was 1.9/1 and themedian age 23 months (75th percentile: 91 months).Antenatal ultrasound was performed in 36/44 patients; 18of them were pathologic; among these last ones, 11/18underwent postnatal ultrasound to control findings. In theother 26 patients, the diagnosis of pathologic ultrasoundwas made after birth: in 15 of them before thehospitalization and in 11 during the hospitalization. Wefound 66 affected kidneys; 22 were bilateral. The mostfrequent diagnosis were: vesicoureteric reflux (n=19),obstruction (n=15) and renal dysplasia/ agenesis (n=18).Twenty one patients underwent surgical treatment and 6underwent endoscopic treatment; 8 patients receivedmore than one invasive treatment...

Descriptive Cases Sudy of Care; Surveillance and Prevention of Birth Defects in Rwandan Children

"""According to the World Health Statistics 2008; about 260 000 neonatal deaths worldwide are caused by Congenital anomalies. This fiure represents about 7 of all neonatal deaths"". In our study; birth accounted Defects for 14.9 out of 581 recruited infants with birth defects (87 cases). In this series; 52.9 were Female whereas 47.1 were male.13.8 were premature babies (=37weeks); 74.7 aged 5 months and 11.5 were infants aged between 5 and 12 months. Polymalformative conditions were the most common Cause of death identifid in 21 cases (24); gastrointestinal birth defects caused death in 15 cases (17); nervous system in 14 (16); Cardio-vascular birth defects in 10 cases (12); Chromosomal abnormalities In 10 cases (12); musculoskeletal defects in 10 cases (12); congenital mass in 2 cases (2); oral defects in 2 cases (2); congenital skin defect in 1 case(1); whereas congenital respiratory defect and genitourinary malformations in 1 case each (1).Over 50 patients died in referral hospitals and 77 died after 24 hours of life"

Holoprosencefalia: a proposito de un caso / Holoprosencephaly: report a case

Se reporta el caso de una mujer de 22 años de edad, sin antecedentes de importancia. Fue admitida en el hospital, enpródromos de trabajo de parto, gestación de 40 semanas y malformación cerebral: holoprosencefalia semilobar, hipotelorismo, hidronefrosis derecha leve (diagnóstico ecográfico). Es intervenida mediante la operación cesáreaobteniéndose un recién nacido con características de holoprosencefalia siendo lo resaltante el hipotelorismo y laarrinencefalia. No presenta llanto al nacimiento, por lo que se le realiza maniobras de reanimación cardio pulmonar, continùaen mal estado general con periodos de apnea, baja saturación, expansibilidad torácica disminuida, se procede a colocaciónde tubo endotraqueal, administración de adrenalina, es llevada al servicio de unidad de cuidados intensivos pediátricos,presentando en el trayecto dos episodios de paro cardiaco, el menor luego es colocado en ventilador mecánico, no teniendouna buena evolución ,fallece el día siguiente de nacido.

It is reported the case of a woman, 22 years of age, without important background information. She was admitted to the hospital, in premonitory signs of 40 weeks and cerebral malformation: semilbar holoprosencephaly, hipotelorismo, mild right hydronephrosis (sonographic diagnosis). She is operated by the cesarean section obtaining a newborn with characteristics of holoprosencephaly remains what the striking hipotelorismo and arrinencefalia. There is no crying at birth, by what is realized maneuvers cardio pulmonary resuscitation, continues un poor condition general, with periods of apnea, low saturation, chest diminished expansibility, so proceeded to endotracheal tube placement, placement of adrenaline, is taken to the pediatric intensive care units, presenting in the journey two episodes of cardiac arrest, the minor then is placed on mechanical ventilator, not taking a good evolution, dies the net day of birth.

El aborto eugenésico podría explicar la menor mortalidad infantil existente en Cuba comparada con la de Chile / Eugenic abortion could explain the lower infant mortality in Cuba compared to that in Chile

Background: Cuba and Chile have the lower infant mortality rates of Latin America. Infant mortality rate in Cuba is similar to that of developed countries. Chilean infant mortality rate is slightly higher than that of Cuba. Aim: To investigate if the lower infant mortality rate in Cuba, compared to Chile, could be explained by eugenic abortion, considering that abortion is legal in Cuba but not in Chile. Material and Methods: We compared total and congenital abnormalities related infant mortality in Cuba and Chile during 2008, based on vital statistics of both countries. Results: In 2008, infant mortality rates in Chile were significantly higher than those of Cuba (7.8 vs. 4.7per 1,000 live born respectively, odds ratio (OR) 1.67; 95% confidence intervals (Cl) 1.52-1.83). Congenital abnormalities accounted for 33.8 and 19.2% of infant deaths in Chile and Cuba, respectively. Discarding infant deaths related to congenital abnormalities, infant mortality rate continued to be higher in Chile than in Cuba (5.19 vs. 3.82 per 1000 live born respectively, OR 1.36; 95%CI 1.221.52). Conclusions: Considering that antenatal diagnosis is widely available in both countries, but abortion is legal in Cuba but not in Chile, we conclude that eugenic abortion may partially explain the lower infant mortality rate observed in Cuba compared to that observed in Chile.