High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.

OBJECTIVE: To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study in Minas Gerais, Brazil. METHODS: A prospective cohort study was conducted from September 2007 to June 2008 with heel-prick blood samples collected on filter paper for the purpose of newborn screening. A qualitative colorimetric test was used as the primary screening method. Colorimetric-positive cases were further tested with a serum confirmatory assay. Gene sequencing was performed for eight children suspected with biotinidase deficiency and for some of their parents. Positive cases were daily supplemented with oral biotin and were followed up for approximately six years. RESULTS: Out of 182,891 newborns screened, 129 were suspected of having biotinidase deficiency. Partial deficiency was confirmed in seven children (one was homozygous for p.D543E) and profound deficiency in one child (homozygous p.H485Q). Thus the incidence was one in 22,861 live births (95% confidence interval 1:13,503 to 1:74,454) for profound and partial biotinidase deficiency combined. Two novel mutations were detected: p.A281V and p.E177K. In silico analysis and estimation of the enzyme activity in the children and their parents showed that p.A281V is pathogenic and p.E177K behaves like p.D444H. CONCLUSION: The incidence of biotinidase deficiency in newborn screening in Minas Gerais was higher than several international studies. The sample size should be larger for final conclusions. Oral daily biotin apparently precluded clinical symptoms, but it may have been unnecessary in some newborns.

Metabolic syndrome in children and adolescents with phenylketonuria / Síndrome metabólica em crianças e adolescentes com fenilcetonúria

OBJECTIVE: This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). METHODS: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed. RESULTS: No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. CONCLUSION: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk. .

OBJETIVO: Determinar marcadores bioquímicos da síndrome metabólica em pacientes com PKU. MÉTODOS: Foram avaliados dois grupos de pacientes com PKU, de quatro a 15 anos, com excesso de peso (29) e eutróficos (29). As variáveis bioquímicas avaliadas foram fenilalanina (phe), colesterol total, HDL-c, triglicérides, glicose e insulina basal. Foi determinado o Homa e mensurada a circunferência da cintura. RESULTADOS: As concentrações de phe, de colesterol total e de glicose foram equivalentes entre os grupos. Os pacientes com excesso de peso apresentaram maiores concentrações de triglicérides, de insulina basal, maiores valores da determinação do Homa, menores concentrações de HDL colesterol e valores mais elevados da relação do colesterol total/HDL-c. Houve correlação positiva entre a dosagem de insulina basal e do Homa com a circunferência da cintura nos pacientes do grupo com excesso de peso. CONCLUSÕES: Os resultados deste estudo sugerem que pacientes com PKU e excesso de peso são potencialmente vulneráveis ao desenvolvimento da síndrome metabólica. Há, portanto, necessidade de acompanhamento clínico-laboratorial que previna as alterações metabólicas, o ganho excessivo de peso e as suas consequências, em especial o risco cardiovascular. .

Metabolic syndrome in children and adolescents with phenylketonuria.

OBJECTIVE: This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). METHODS: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed. RESULTS: No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. CONCLUSION: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

Pre and perinatal aspects of congenital cystic adenomatoid malformation of the lung.

OBJECTIVE: To identify the incidence of congenital cystic adenomatoid malformation of the lung (CCAM) at birth; to evaluate prenatal and perinatal history, association with clinical and sociodemographic variables and concordance between CT scan results and anatomopathology studies. METHOD: Descriptive study based on the registry of malformed newborns, deliveries and patients records between August 1990 and November 2010. Ultrasonic, clinical, imaging and anatomopathologic information were studied. Association studies were made using chi-square test. Kappa was used to correlate CT scan to anatomopathology results. RESULTS: The incidence was 1:1980 (25/49 503). The mean gestational age for detection by ultrasonography was 24 ± 3.7 weeks. There were progression of the lesions in 11 cases (44%), stability in 6 (24%) and regression in 8 (32%). Three cases of CCAM followed due to polyhydramnios/hydrops died. There were neither familial cases nor association with sex, weight, age or maternal parity (p > 0.15). Radiographic abnormalities were found in 22/23 studied patients. The correspondence between CT scan and anatomopathologic was 0.77 (Kappa). CONCLUSIONS: The incidence was higher than the one described in the literature, probably, because it is a reference center in fetal medicine. The prenatal lesion involution rate was 32%, an intermediate proportion. There was good concordance between CT scan and anatomopathologic results. The polyhydramnios/hydrops were predictive of worst prognosis.

Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil.

OBJECTIVE: To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. METHODS: The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture. The second phase of the study was performed after, at least, 90 days of use of the supplementation. Selenium nutritional status was assessed through the analysis of biochemical parameters: serum free thyroxin and selenium and glutathione peroxidase in erythrocytes. Selenium dietary intake was evaluated by the administration of the Food Frequency Questionnaire. RESULTS: Mean age of the children was of 7.0±1.8 years, and 35.2% were female. Mean time of supplementation of selenium, on special formula, was 122.2±25.1 days. The selenium-supplemented amino acid mixture represented 72.9% of the daily supply of the mineral. Upon supplementation, mean concentrations of serum selenium and glutathione peroxidase in erythrocytes increased significantly (p < 0.05). The average daily intake of selenium increased significantly (p < 0.001), reaching the levels recommended by the Dietary Reference Intakes. The concentration of free thyroxin, in serum, presented significant reduction (p < 0.001) in all patients during the second phase of the study, and returned to normal limits in those who had changed levels. CONCLUSIONS: Selenium supplementation through protein replacement is effective to improve and adapt the nutritional status of selenium in patients with phenylketonuria.

Estado nutricional e ingestão de selênio em crianças com fenilcetonúria em Minas Gerais, Brasil / Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil

OBJETIVO: Avaliar a ingestão alimentar e o estado nutricional em selênio em pacientes com fenilcetonúria. MÉTODOS: Foram avaliados prospectivamente 54 crianças com fenilcetonúria, entre 4 e 10 anos de idade. O estudo foi realizado antes e após o uso de mistura de aminoácidos complementada com selênio. A segunda fase do estudo foi realizada com, no mínimo, 90 dias de utilização da mistura complementada. O estado nutricional em selênio foi avaliado por meio da análise de parâmetros bioquímicos: dosagens séricas de selênio e tiroxina livre e dosagem de glutationa peroxidase no eritrócito. A ingestão alimentar de selênio foi avaliada por aplicação de Questionário de Frequência Alimentar Quantitativo. RESULTADOS: A idade média das crianças foi de 7,0±1,8 anos, e 35,2% eram do sexo feminino. O tempo médio de complementação de selênio, em fórmula especial, foi de 122,2±25,1 dias. A mistura de aminoácidos complementada com o mineral representou 72,9% da oferta diária de selênio. Após a complementação, as concentrações médias de selênio sérico e de glutationa peroxidase no eritrócito apresentaram aumento significativo (p < 0,05). A ingestão média diária de selênio aumentou significativamente (p < 0,001), alcançando o recomendado pela Ingestão Dietética de Referência. A concentração de tiroxina livre, no soro, apresentou redução significativa (p < 0,001) em todos os pacientes na segunda fase do estudo, tendo retornado aos limites da normalidade naqueles em que estava alterada. CONCLUSÃO: A complementação de selênio por meio de substituto proteico é eficaz para melhorar e adequar o estado nutricional de selênio em pacientes com fenilcetonúria.

OBJECTIVE: To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. METHODS: The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture. The second phase of the study was performed after, at least, 90 days of use of the supplementation. Selenium nutritional status was assessed through the analysis of biochemical parameters: serum free thyroxin and selenium and glutathione peroxidase in erythrocytes. Selenium dietary intake was evaluated by the administration of the Food Frequency Questionnaire. RESULTS: Mean age of the children was of 7.0±1.8 years, and 35.2% were female. Mean time of supplementation of selenium, on special formula, was 122.2±25.1 days. The selenium-supplemented amino acid mixture represented 72.9% of the daily supply of the mineral. Upon supplementation, mean concentrations of serum selenium and glutathione peroxidase in erythrocytes increased significantly (p < 0.05). The average daily intake of selenium increased significantly (p < 0.001), reaching the levels recommended by the Dietary Reference Intakes. The concentration of free thyroxin, in serum, presented significant reduction (p < 0.001) in all patients during the second phase of the study, and returned to normal limits in those who had changed levels. CONCLUSION: Selenium supplementation through protein replacement is effective to improve and adapt the nutritional status of selenium in patients with phenylketonuria.

Inbreeding and PKU allele frequency: Estimating by microsatellite approaches.

UNLABELLED: Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q(2)). However, these estimates can be strongly biased due to inbreeding in the population. OBJECTIVES: The purpose of this study was to gain a better understanding of how inbreeding in the Minas Gerais State population affects phenylketonuria (PKU) incidence in the state and to determine the inbreeding coefficient based on microsatellites. METHODS: Inbreeding coefficients of samples of 104 controls and 76 patients with PKU were estimated through a microsatellite approach. Besides, the amount and distribution of genetic variation within and among patients with PKU and control samples were characterized. RESULTS: No genetic differentiation was observed between the samples. However, the Fis value found for samples of patients with PKU (0.042) was almost 15 times higher than that found among controls (0.003). When corrected by the inbreeding coefficient found among the controls, the PKU allele frequency decreased to 0.0057. CONCLUSIONS: The results enables us to infer that at least 35% of the PKU recessive homozygotes from the Minas Gerais population could be due to consanguineous marriages and suggest that microsatellites can be an useful approach to estimate inbreeding coefficients.

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

Melnick-Needles syndrome (MNS) (OMIM 309350) is a rare, X-linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the syndrome presents with bone dysplasia and characteristic facial changes. Affected males may show two different phenotypes. One is similar to the female phenotype and is seen in children born to unaffected mothers and suggesting new mutations. Alternatively, males born to affected mothers have an embryonic or perinatally lethal disorder. It has been claimed that MNS constitutes part of a spectrum including frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1) and otopalatodigital syndrome type 2 (OPD2). These conditions are produced by different mutations in the filamin A gene (FLNA). MNS is caused by three different mutations in FLNA exon 22, to date detected only in females. We describe the clinical manifestations and present the results of FLNA exon 22 mutations screening in two boys with the perinatally lethal form of MNS and their affected mothers. In order to obtain DNA amplification from paraffin-embedded tissues, we designed a new method based on hemi-nested PCR. One of the children (and his mother) had a previously undescribed mutation produced by a double SNP in the positions 3776 and 3777 of the gene and leading to an amino acid substitution (NP_001447:p.[Gly1176Asp]). The second child (and his mother) had an already known mutation (NP_001447.2:p[.Ser1199Leu]). This is the first report confirming the presence FLNA mutations in boys with the perinatally lethal phenotype of MNS. (

Apresentação das cardiopatias congênitas diagnosticadas ao nascimento: análise de 29,770 recém-nascidos / Presentation of congenital heart disease diagnosed at birth: analysis of 29.770 newborn infants

OBJETIVO: Estimar a prevalência e estudar apresentações clínicas e fatores associados às cardiopatias congênitas, diagnosticadas ao nascimento, entre agosto de 1990 e dezembro de 2003, na Maternidade do Hospital das Clínicas da Universidade Federal de Minas Gerais. MÉTODOS: Estudo retrospectivo, baseado no banco de dados, vinculado ao Estudo Colaborativo Latino-Americano de Malformações Congênitas. Foram identificados os recém-nascidos vivos (RNV) e natimortos (NM) com cardiopatias congênitas, diagnosticadas pelo ecocardiograma pós-natal ou necropsia. Entre os RNV, foram estudadas associações com peso ao nascer, gênero, idade e paridade materna. Para análise estatística, utilizou-se o teste do qui-quadrado de Pearson e regressão logística multinomial. RESULTADOS: No período, ocorreram 29.770 nascimentos (28.915 RNV e 855 NM). Entre os RNV, a prevalência das cardiopatias foi de 9,58:1.000 (277/28.915) e, entre NM, de 87,72:1.000 (75/855). A cardiopatia isolada ocorreu em 37,2 por cento dos casos entre RNV e 18,7 por cento entre NM; associada a anomalias de outros órgãos e sistemas sem diagnóstico sindrômico em 31,4 por cento entre RNV e 48,0 por cento entre NM; era componente de síndromes em 23,1 por cento dos RNV e 32,0 por cento dos NM. A análise multivariada mostrou associação entre cardiopatia e peso ao nascer £ 2.500 g em todas as formas de apresentações clínicas, entre idade materna ³ 35 anos nas cardiopatias componentes de síndromes e entre o gênero feminino nas cardiopatias isoladas. CONCLUSÕES: A prevalência encontrada foi alta, alertando para a importância médica das cardiopatias. Houve associação com peso ao nascer £ 2.500 g em todas as apresentações, com idade materna elevada nas cardiopatias sindrômicas e com o gênero feminino nas isoladas.

OBJECTIVE: To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil. METHODS: A retrospective, database driven study, part of the Latin-American collaborative study of congenital malformations. Records were reviewed on all live born (LB) and stillborn (SB) infants with congenital heart diseases diagnosed by postnatal echocardiogram or by autopsy. Data on birth weight, sex, age and parity were collected for the LB and studied for associations. The statistical analysis employed Pearson's chi-square test and multinomial logistic regression. RESULTS: During the period studied there were 29,770 births (28,915 LB and 855 SB). The prevalence of heart disease among the LB was 9.58:1,000 (277/28,915) while among SB the rate was 87.72:1,000 (75/855). Heart disease occurred isolated in 37.2 percent of LB cases and 18.7 percent of SB cases; was associated with anomalies of other organs and systems, but without a syndromic diagnosis in 31.4 percent of LB cases and 48.0 percent of SB cases; and in 23.1 percent of the LB cases and 32.0 percent of the SB cases the heart disease was a feature of a syndrome. Multivariate analysis demonstrated an association between heart disease and birth weight £ 2,500 g in all types of clinical presentation, between maternal age ³ 35 years and heart disease in syndromic heart disease and between female sex and isolated heart disease. CONCLUSIONS: It was found a high prevalence, which is an alert to the medical significance of heart disease. There was association between birth weight £ 2,500 g and all forms of presentation, between increased maternal age and syndromic heart disease besides between female sex and isolated congenital heart disease.

Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants.

OBJECTIVE: To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil. METHODS: A retrospective, database driven study, part of the Latin-American collaborative study of congenital malformations. Records were reviewed on all live born (LB) and stillborn (SB) infants with congenital heart diseases diagnosed by postnatal echocardiogram or by autopsy. Data on birth weight, sex, age and parity were collected for the LB and studied for associations. The statistical analysis employed Pearson's chi-square test and multinomial logistic regression. RESULTS: During the period studied there were 29,770 births (28,915 LB and 855 SB). The prevalence of heart disease among the LB was 9.58:1,000 (277/28,915) while among SB the rate was 87.72:1,000 (75/855). Heart disease occurred isolated in 37.2% of LB cases and 18.7% of SB cases; was associated with anomalies of other organs and systems, but without a syndromic diagnosis in 31.4% of LB cases and 48.0% of SB cases; and in 23.1% of the LB cases and 32.0% of the SB cases the heart disease was a feature of a syndrome. Multivariate analysis demonstrated an association between heart disease and birth weight or= 35 years and heart disease in syndromic heart disease and between female sex and isolated heart disease. CONCLUSIONS: It was found a high prevalence, which is an alert to the medical significance of heart disease. There was association between birth weight

O aleitamento materno no tratamento de crianças com fenilcetonúria / Breastfeeding in the treatment of children with phenylketonuria

OBJETIVO: Avaliar o efeito do leite materno como fonte de fenilalanina (phe) nos níveis sangüíneos desse aminoácido e no crescimento de fenilcetonúricos. MÉTODOS: Foram estudados 35 fenilcetonúricos que mantiveram leite materno, e os resultados foram comparados com os de 35 lactentes que usaram fórmula láctea comercial. Os grupos foram pareados por sexo e por idade à suspensão do aleitamento materno. Os dados foram analisados até a suspensão do leite materno ou durante 12 meses de acompanhamento. O grupo amamentado recebeu "fórmula especial" isenta em phe, em mamadeira a cada 3 horas, e leite materno em livre demanda nos intervalos. Os níveis sangüíneos de phe, coletados semanalmente até 6 meses e quinzenalmente até 1 ano de idade, foram analisados durante a amamentação. Foram comparados o tempo necessário para adequação dos níveis sangüíneos de phe, após o início do tratamento, utilizando o teste de Wilcoxon e os dados antropométricos, pelo teste t de Student pareado, utilizando o escore z. As dosagens de phe foram analisadas durante a amamentação. RESULTADOS: O tempo mediano para adequação dos níveis de phe no sangue foi de 8 dias para o grupo amamentado e de 7 dias para o grupo controle. As dosagens de phe estavam adequadas em 87 por cento das vezes para o grupo amamentado e em 74,4 por cento para o grupo controle. Na avaliação antropométrica, a maioria das crianças, de ambos os grupos, apresentou escore z > -2. CONCLUSÃO: A manutenção do aleitamento materno, durante o tratamento, mostrou-se adequada no controle metabólico e no crescimento das crianças fenilcetonúricas.

OBJECTIVE: To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants. METHODS: The study recruited 35 breastfed phenylketonuric infants and compared their results with those of 35 infants fed on commercial, milk-based formula. The groups were paired for sex and age at weaning from breastfeeding. Data were analyzed up until cessation of breastmilk or for 12 months' follow-up. The breastfed group were given a "special formula" free of phe, by bottle every 3 hours, and breastmilk at will during the intervals. Levels of phe in the blood, collected weekly up to 6 months and fortnightly up to 1 year de age, were analyzed while breastfeeding continued. The two groups were compared in terms of the time taken for the levels of phe in blood to return to normal after treatment was started, using the Wilcoxon test. Anthropometric data were compared with Student's t paired test in the form of z scores. The phe assays were analyzed throughout breastfeeding. RESULTS: The median time taken for phe levels to return to normal was 8 days for the breastfed group and 7 days for the control group. The phe assay results were normal in 87 percent of tests for the breastfed group and in 74.4 percent for the control group. The majority of children in both groups exhibited a z score > -2 on anthropometric examination. CONCLUSIONS: Continuation of breastfeeding, during the treatment, proved adequate for metabolic control and growth in children with phenylketonuria.

Breastfeeding in the treatment of children with phenylketonuria.

OBJECTIVE: To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants. METHODS: The study recruited 35 breastfed phenylketonuric infants and compared their results with those of 35 infants fed on commercial, milk-based formula. The groups were paired for sex and age at weaning from breastfeeding. Data were analyzed up until cessation of breastmilk or for 12 months' follow-up. The breastfed group were given a "special formula" free of phe, by bottle every 3 hours, and breastmilk at will during the intervals. Levels of phe in the blood, collected weekly up to 6 months and fortnightly up to 1 year de age, were analyzed while breastfeeding continued. The two groups were compared in terms of the time taken for the levels of phe in blood to return to normal after treatment was started, using the Wilcoxon test. Anthropometric data were compared with Student's t paired test in the form of z scores. The phe assays were analyzed throughout breastfeeding. RESULTS: The median time taken for phe levels to return to normal was 8 days for the breastfed group and 7 days for the control group. The phe assay results were normal in 87% of tests for the breastfed group and in 74.4% for the control group. The majority of children in both groups exhibited a z score > -2 on anthropometric examination. CONCLUSIONS: Continuation of breastfeeding, during the treatment, proved adequate for metabolic control and growth in children with phenylketonuria.

Emprego do carvão ativado para a remoção de fenilalanina de leite em pó / Utilization of activated carbon for the removal of phenylalanine from skim milk powder

Visando o desenvolvimento de formulações dietéticas especiais para fenilcetonúricos foram preparados cinco hidrolisados enzimáticos de leite em pó desnatado com papaína (PA) e pesina (PE), isoladamente ou em associação com a protease do Aspergillus oryzar (AO). O carvão ativado foi utiliado para remover a fenilalanina (Phe) dos hidrolisados, sendo testados os tratamentos em béquer e em coluna. O tratamento em coluna por corrida direta em seringa de 20mL, utilizando o carvão hidratado na quantaidade de 90 g/g de caseína, foi a condição escolhida para a remoção de Phe dos hidrolisados enzimáticos de leite em pó desnatado. A ação isolada da PA e PE, e a associação de PA com AO resultaram nos maiores percentuais de remoção de Phe (97 por cento a 98 por cento). A espectrofotometria derivada de segunda ordem permitiu avaliar a eficiência da remoção de fenilalanina.

[Neural tube defects and associated factors in liveborn and stillborn infants]. / Defeitos de fechamento do tubo neural e fatores associados em recém-nascidos vivos e natimortos.

OBJECTIVES: To evaluate the prevalence and factors associated to neural tube defects in liveborn and stillborn infants delivered at the Hospital das Clínicas, UFMG, from January 8, 1999 to July 31, 2000. METHODS: This is a descriptive study, based on a database, according to the Latin-American Collaborative Study of Congenital Malformation (ECLAMC) rules. Reports on liveborn and stillborn infants with congenital anomalies were prepared including information about morphological description, necropsy results, complementary exams, family, social and pregnancy histories and other clinical data. Each malformed liveborn infant originated a control of the same sex, without malformations. The liveborn and stillborn infants with neural tube defects delivered during that period were classified according to their defect and the presence or absence of associated defects. The liveborn and stillborn infants with neural tube defects were compared to newborns without neural tube defects according to their weight and sex and their mother's age and parity. Epi-Info 6.0 Program was used for the statistical analysis of the results. RESULTS: The prevalence of neural tube defects was 4.73 to 1,000 deliveries (89:18,807); it was significantly higher among stillborn infants (23.7:1,000) than among liveborn infants (4.16:1,000), p < 0.001. Neural tube defects were more often found among low weight liveborn infants (< or = 2,500 g), p < 0.001 and less frequently among women who had had more than three gestations, p = 0.007. No association was found regarding newborn's sex or maternal age. There was no association with newborn's sex and weight, maternal parity or age among stillborn infants. The most common neural tube defects were myelomeningocele (47.2%), anencephaly (26.9%) and encephalocele (16.9%). The defects were found as isolated anomalies in 71.1% of the liveborn and 38.5% of the stillborn infants; they were part of a syndrome in 9.2% (liveborn) and 7.7% (stillborn). CONCLUSION: The neural tube defect prevalence found in this study was higher than the one described in international and Latin-American literature.

Defeitos de fechamento do tubo neural e fatores associados em rcém-nascidos vivos e natimortos / Neural tube defects and associated factors in liveborn and stillborn infants

Objetivos: avaliar a prevalência e fatores associados aos defeitos de fechamento do tubo neural em recém-nascidos vivos e natimortos, na maternidade do Hospital das Clínicas da UFMG, entre 01/08/1990 e 31/07/2000.Métodos: trata-se de trabalho descritivo, baseado em banco de dados, seguindo normas do Estudo Colaborativo Latino-Americano de Malformações Congênitas (ECLAMC). São confeccionadas fichas dos recém-nascidos vivos e natimortos com anomalias congênitas, com descrição morfológica, resultados de necropsia, exames complementares, história familiar, social, da gravidez, e outros dados clínicos. Cada recém-nascido vivo malformado dá origem a um controle, do mesmo sexo, sem malformações. Os recém-nascidos vivos e natimortos com defeitos de fechamento do tubo neural, no período, foram classificados de acordo com o defeito apresentado e com a presença ouausência de outros defeitos associados. Foram comparados sexo, peso, idade e paridade materna com os demais recém-nascidos vivos e natimortos do período. A análise estatística utilizou o programa Epi-Info 6.0.Resultados: a prevalência dos defeitos de fechamento do tubo neural foi de4, 73:1.000 partos (89: 18.807), tendo sido maior entre os natimortos(23, 7: 1.000) que entre os recém-nascidos vivos (4,16: 1.000), p<0,001. Os defeitos de fechamento do tubo neural foram mais freqüentes entre os recém-nascidos vivos de baixo peso ( 2.500g), p3 gestações), p=0,007. Não houve associação com sexo ou idade materna. Entre os natimortos não houve associação com sexo, peso, paridade ou idade materna. Os defeitos de fechamento do tubo neural mais freqüentes foram mielomeningocele (47 ,2por cento ), anencefalia (26,9por cento ) e encefaloceie (16,9por cento). Os defeitos se encontravam como anomalia isolada em 71,1por cento dos recém-nascidos vivos e 38,5por cento dos natimortos; faziam parte de uma síndrome em 9,2por cento dos recém-nascidos vivos e em 7,7 por cento dosnatimortos.Conclusão: a prevalência dos defeitos de fechamento do tubo neural foi maior...

Sindromys: a program for computer-assisted diagnosis of malformation syndromes

Desenvolvemos um banco de dados computadorizado, denominado "Sindromes", destinado a auxiliar o diagnóstico diferencial das síndromes disfórmicas mais frequentes. Trata-se de um sistema simples que näo exige do usuário conhecimentos em informática. Escrito em linguagem COBOL, contém um arquivo de Síndromes com as principais características clínicas, ordenadas hierarquicamente e com numeros de código que permitem sua rápida identificaçäo. A principal rotina de programa gera listas de Síndromes para o diagnóstico diferencial, a partir de características clínicas selecionadas dos pacientes. E também possível listar as características clínicas de síndromes escolhidas para comparaçäo com os pacientes. Rotinas de programa também permitem alterar cada um dos arquivos possibilitando a correçäo, atualizaçäo e ampliaçäo dos mesmos com a inclusäo de novas síndromes. O sistema pode ser utilizado em microcomputadores sob sistema operacional CP?M (Mínimno 64 kbytes) ou MS/DOS (Mínimo de 256 kbytes) e duas unidades de disquetes face dupla de 5 1/4" ou 3 1/2" double-face diskettes