Anthropometric and dietary assessment of patients with glycogenosis type i / Avaliação antropométrica e dietética de pacientes com glicogenose tipo i

ABSTRACT Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the classification of glycogenosis (type Ia=5 and type Ib=6), aged between 4 and 20 years. The analyzed anthropometric variables were weight, height, body mass index, and measures of lean and fat body mass, which were compared with reference values. For dietary assessment, a food frequency questionnaire was used to calculate energy and macronutrients intake as well as the amount of raw cornstarch consumed. Mann-Whitney U test and Fisher's exact test were performed, considering a significance level of 5%. Results: Patients ingested raw cornstarch in the amount of 0.49 to 1.34 g/kg/dose at a frequency of six times a day, which is lower than recommended (1.75-2.50 g/kg/dose, four times a day). The amount of energy intake was, on average, 50% higher than energy requirements; however, carbohydrate intake was below the adequacy percentage in 5/11 patients. Short stature was found in 4/10 patients; obesity, in 3/11; and muscle mass deficit, in 7/11. There were no statistical differences between the subgroups. Conclusions: In patients with glycogenosis type I, there was deficit in growth and muscle mass, but no differences were found between the subgroups (Ia and Ib). Although the diet did not exceed the adequacy of carbohydrates, about 1/3 of the patients presented obesity, probably due to higher energy intake.

RESUMO Objetivo: Realizar avaliação antropométrica e dietética de pacientes com glicogenose tipos Ia e Ib. Métodos: Estudo transversal composto de uma amostra de 11 pacientes com glicogenose divididos em dois subgrupos de acordo com a classificação da glicogenose (tipo Ia=5; tipo Ib=6), com idades entre 4 e 20 anos. As variáveis antropométricas analisadas foram peso, estatura, índice de massa corporal e medidas de massa magra e gorda, que foram comparadas com valores de referência. Para avaliação dietética, foi utilizado um questionário de frequência alimentar para cálculo de ingestão de energia e macronutrientes, além da quantidade de amido cru ingerida. Realizaram-se testes U de Mann-Whitney e exato de Fisher, com nível de significância de 5%. Resultados: Os pacientes ingeriram amido cru na quantidade de 0,49 a 1,34 g/kg/dose na frequência de seis vezes ao dia, inferior à dosagem preconizada (1,75-2,50 g/kg/dose quatro vezes ao dia). A quantidade de energia consumida foi, em média, 50% a mais que as necessidades, contudo o consumo de carboidratos foi abaixo da porcentagem de adequação em 5/11 pacientes. Baixa estatura ocorreu em 4/10 pacientes, obesidade em 3/11 e déficit de massa muscular em 7/11. Não houve diferença estatística entre os subgrupos. Conclusões: Em pacientes com glicogenose tipo I, houve déficit de crescimento e de massa muscular, mas não diferença significante entre os subgrupos (Ia e Ib). Embora a dieta não tenha ultrapassado a adequação de carboidratos, 1/3 dos pacientes apresentou obesidade, provavelmente pela maior ingestão de energia.

Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population / Aspectos Clínicos asociados a Fisuras Orofaciales en una población Colombiana

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

Objetivos: Presentar la epidemiología descriptiva en torno a las Fisuras Orofaciales y determinar asociaciones entre Fisuras Orofaciales sindromica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades en una población Colombiana. Métodos: Se planteó un estudio de serie de casos anidado estratificado. Se calcularon frecuencias en relación al tipo de fisura desde el punto de vista anatómico, anomalías congénitas paralelas, morbilidades y forma clínica. Se analizó la distribución de las Fisuras Orofaciales de acuerdo al género y lateralidad. Se determinaron razones de disparidad entre la forma sindrómica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades. Se evaluaron trecientos once pacientes que asistieron a la consulta de genética clinica durante un año. Resultados: La Fisura Labio-palatina fue el tipo más frecuente en la muestra evaluada y la más frecuente en hombres. La Fisura Palatina fué la más frecuente en mujeres, la forma clínica más común fue la no sindrómica. En la población sindrómica el Síndrome de Aarskog-Scott mostró la frecuencia más alta. Los trastornos Hipertensivos de Embarazo, la Displasia del Desarrollo de la Cadera, las enfermedades respiratorias y del sistema nervioso central mostraron una asociación estadísticamente significativa con la forma sindrómica. (p <0.05). Conclusiones: Estos datos ofrecen una referencia epidemiológica descriptiva de las Fisuras Orofaciales en Colombia. Las asociaciones encontradas entre los aspectos clínicos estudiados y la forma sindrómica, deben ser investigadas en próximos estudios con el fin de determinar relaciones de causalidad.

Iodine nutrition in elementary state schools of Queretaro, Mexico: correlations between urinary iodine concentration with global nutrition status and social gap index / Consumo de iodo em escolas de ensino fundamental de Querétaro, México: correlação entre a concentração urinária de iodo, o estado nutricional geral e o índice de desigualdade social

OBJECTIVE AND METHODS: To estimate median urinary iodine concentration (UIC), and to correlate it with global nutrition indicators and social gap index (SGI) in 50 elementary state schools from 10 municipalities in the State of Queretaro, Mexico. RESULTS: 1,544 students were enrolled and an above of requirements of iodine intake was found (median UIC of 297 µg/L). Iodine status was found as deficient, adequate, more than adequate and excessive in 2, 4, 19 and 25 schools, respectively. Seventy seven percent of table salt samples showed adequate iodine content (20-40 ppm), while 9.6% of the samples had low iodine content (< 15 ppm). Medians of UIC per school were positively correlated with medians of body mass index (BMI) by using the standard deviation score (SDS) (r = 0.47; p < 0.005), height SDS (r = 0.41; p < 0.05), and overweight and obesity prevalence (r = 0.41; p < 0.05). Medians of UIC per school were negatively correlated with stunting prevalence (r = -0.39; p = 005) and social gap index (r = -0.36; p < 0.05). Best multiple regression models showed that BMI SDS and height were significantly related with UIC (p < 0.05). CONCLUSIONS: There is coexistence between the two extremes of iodine intake (insufficient and excessive). To our knowledge, the observed positive correlation between UIC and overweight and obesity has not been described before, and could be explained by the availability and consumption of snack food rich in energy and iodized salt.

OBJETIVO E MÉTODOS: Estimar a concentração de iodo urinário (CIU) mediana e correlacioná-la com os indicadores de nutrição geral e com o índice de desigualdade social (IDS) de 50 escolas estaduais de ensino fundamental de 10 municípios do estado de Querétaro, no México. RESULTADOS: Utilizou-se um total de 1.544 crianças e encontrou-se uma ingestão acima das necessidades de iodo (CIU mediana de 297 µg/L). O nível de iodo determinado foi deficiente, adequado, mais do que adequado e excessivo em 2, 4, 19 e 25 escolas, respectivamente. Setenta e sete por cento de amostras de sal de mesa mostraram uma quantidade de iodo adequada (20-40 ppm), enquanto 9,6% das amostras tinham um teor de iodo baixo (< 15 ppm). As medianas de CIU por escola foram correlacionadas positivamente com as medianas do índice de massa corporal (IMC) usando o desvio-padrão da contagem (DP) (r = 0,47; p < 0.005), o DP da altura (r = 0,41; p < 0.05) e a prevalência de sobrepeso e de obesidade (r = 0,41; p < 0,05). As medianas de CUI por escola foram correlacionadas negativamente com a prevalência de desnutrição (r = -0.39; p = 005) e com o índice de desigualdade social (r = -0.36; p < 0,05). Os melhores modelos de regressão múltipla mostraram que a DP do IMC e a altura foram relacionados significativamente com a CIU (p < 0,05). CONCLUSÃO: Existe uma convivência entre os dois extremos de ingestão de iodo (insuficiente e excessiva). Em nosso conhecimento, a correlação positiva entre a CIU, o excesso de peso e a obesidade não foi descrita anteriormente e poderia ser explicada pela disponibilidade e consumo de alimentos ou refeições ricos(as) em energia e sal iodado.

Short stature and an interesting association.

Untreated hypothyroidism in children usually results in delayed puberty, but juvenile hypothyroidism causes isosexual precocious puberty in a rare syndrome called Van Wyk Grumbach syndrome, with a complete reversal to the pre pubertal state following thyroid hormone replacement therapy. We report here, a 7-year-old girl who presented with short stature, constipation and isosexual precocious puberty due to the long standing untreated severe hypothyroidism with this syndrome.

Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis.

We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.

Síndrome de Hallermann*Streiff*Francois: a propósito de 7 casos

En el servicio de Oftalmología del Complejo Hospitalario `Daniel Alcides Carrión' del Callao, entre los años 1981 y 1983 han sido estudiados 7 casos portadores del síndrome Hallerman-Streiff-Francois. Este síndrome está caracterizado por discefalia con cara de pájaro, anomalías dentales, nanismo proporcionado, hipotricosis, atrofia de piel, microftalmía y catarata congénita bilateral. De ellos, 2 casos asistieron espontáneamente al servicio, 4 proceden del Centro de Educación Especial ` San Francisco de Asís', 1 procedente del centro de Educación Especial `Santa Lucía'. Estos dos últimos centros educativos están dedicados a la enseñanza de niños con ceguera y visión subnormal. En todos ellos se ha practicado examen clínico general y estudio oftalmológico, prestando especial atención a los antecedentes personales y familiares