Congenital Nervous System Malformations Research Articles

Neurogenic Bladder in Patients with Mylomeningocele in Pediatric Age

Myelomeningocele (MMC) is congenital nervous system malformation caused by neurulation process failure during pregnancy. The prevalence varies by the continent, region, race, ethnicity and the time when assessed and patients present abnormalities of different organs. One of the most severe complications is renal failure. Aim: Clinical evaluation of patients with MMC in Iraq and answering the question whether our treatment methods lead to renal function preservation. Material and methods: Medical records of 28 patients in the period 2014.2019were evaluated retrospectively. The data included: age, sex, BMI Z-score WHO, place of residence, perinatal history, social situation, physical activity, urodynamic diagnosis, renal function, hydrocephalus diagnosis, and functioning of shunting procedures. Results: They were no statistically significant differences in most studied parameters between boys and girls. Keywords: Meningomyelocele, Epidemiological study, Neurogenic bladder, Renal function

Análise espacial e espaço-temporal das anomalias congênitas do sistema nervoso no Estado da Paraíba entre os anos de 2010 a 2016

Introdução: No Brasil, a anomalia congênita do sistema nervoso tem sido a mais frequente dentre as anomalias. O conhecimento da sua distribuição geográfica, tanto no espaço quanto ao longo do tempo, pode auxiliar os gestores públicos no processo de tomada decisão sobre as áreas que devem ser priorizadas no monitoramento dessa doença. Objetivo: Detectar aglomerados espaciais e espaço-temporais das anomalias congênitas do sistema nervoso. Método: Estudo ecológico a partir de dados secundários do Sistema de Informações sobre Nascidos Vivos no período de 2010 a 2016 no estado da Paraíba. Foram estimadas as Razões de Incidências Espacial e aplicada a estatística Scan circular e Scan espaço-temporal para a detecção dos aglomerados das anomalias citadas anteriormente. Resultados: O padrão espacial foi diferente ao longo dos anos da ocorrência destas anomalias, uma vez que os aglomerados espaciais foram detectados em diferentes regiões do estado, exceto nos anos 2013 e 2015 que foi verificada uma maior concentração nas regiões do centro-oeste e noroeste do estado. Conslusão: Os achados indicaram as áreas que devem serpriorizadas para o monitoramento de anomalias congênitas do sistema nervoso no estado da Paraíba, tanto no tempo quanto no espaço.

The prevalence and pattern of neural tube defects and other major congenital malformations of nervous system detected at birth in Barbados

IntroductionNeural tube defects are the commonest major congenital malformation of nervous system. There is paucity of published data on the public health burden of major congenital malformations from the English Caribbean. The objective of this study was to describe the prevalence and pattern of major congenital malformations of the nervous system seen at birth. We also describe the burden of neonatal morbidity and mortality from the neural defects. Material and methodsThis was a retrospective clinical audit of all babies born with major congenital malformations of the nervous system in Barbados. The period of reporting was from 1993 to 2012. Relevant data on the babies with major congenital malformations of the nervous system were obtained from the birth register in the labor ward and the admissions register at the NICU. ResultThe prevalence rate for neural tube defects, congenital hydrocephalus, and other Major Congenital Malformations of the Nervous System was 3.76, 2.66, and 1.25 per 10,000 live births, respectively. Major congenital malformations of nervous system accounted for 10 (1.6%; 95% CI=0.8%–3.1%) deaths. The prevalence rate of neural tube defects is lower than those reported from most of the countries around the world.

Clinical characteristics of patients with neurogenic bladder due to myelomeningocele – Eighteen-year retrospective study; University Children's Hospital, Bialystok, Poland

IntroductionMyelomeningocele (MMC) is congenital nervous system malformation caused by neurulation process failure during pregnancy. The prevalence varies by the continent, region, race, ethnicity and the time when assessed and patients present abnormalities of different organs. One of the most severe complications is renal failure. AimClinical evaluation of patients with MMC in North-East Poland and answering the question whether our treatment methods lead to renal function preservation. Material and methodsMedical records of 112 patients in the period 1995–2013 were evaluated retrospectively.The data included: age, sex, BMI Z-score WHO, place of residence, perinatal history, social situation, physical activity, urodynamic diagnosis, renal function, hydrocephalus diagnosis, and functioning of shunting procedures. ResultsThey were no statistically significant differences in most studied parameters between boys and girls. We observed statistically significant differences among MMC patients divided into 4 groups according to the physical activity. They differed in birth weight and length, Apgar scale, hydrocephalus diagnosed and the need for ventriculoperitoneal shunt. We did not find differences in urodynamic diagnosis among 4 studied groups. Conclusions1.Data of MMC children from Poland are similar to the other countries.2.In our opinion, early diagnostic and treatment procedure especially with early catheterization of MMC children prevent renal failure development.3.Assessment of very early markers in renal function deterioration in neurogenic bladder patients from widespread multicenters’ research is indicated.

A review of the first 12 months of the S.A. pilot survey of material serum alphafoetoprotein screening for foetal neural tube defects

Neural tube defects represent the most common congenital nervous system malformation. In September 1977, a pilot survey of the measurement of material serum afoetoprotein (AFP) at 16–20 wk gestation, for the prenatal diagnosis of open neural tube defects was introduced. This survey was preceded by the accumulation of sufficient data for the calculation of reference percentile values for the relevant gestational ages. All assays were performed using the Behring Werke R.I.A. G-nost kit. The present test protocol will be discussed together with future modifications subsequent to the data generated from the first 12 months of the S.A. Pilot Survey. With approximately 3000 tests having been performed, 4 anencephalic foetuses and 1 spina bifida have been detected. Even though complete individual case records of all patients after delivery are not yet available, it does appear that maternal serum AFP screening is effective in reducing the number of severe birth defects.