RESUMEN
Most infants born with very low birth weight (VLBW, birth weight < 1500 g) show spontaneous catch-up growth in postnatal life. The reasons for the absence of catch-up growth are not entirely understood. We performed a comprehensive investigation of 52 children born with VLBW. Ten children had a history of an external cause that explained the VLBW and five refused genetic evaluation. Twenty-three cases were initially evaluated by a candidate gene approach. Patients with a negative result in the candidate gene approach (n = 14) or without clinical suspicion (n = 14) were assessed by chromosome microarray analysis (CMA) and/or whole-exome sequencing (WES). A genetic condition was identified in 19 of 37 (51.4%) patients without an external cause, nine by candidate gene approach, and 10 by a genomic approach (CMA/WES). Silver-Russell syndrome was the most frequent diagnosis (n = 5) and the remaining patients were diagnosed with other rare monogenic conditions. Almost all patients with a positive genetic diagnosis exhibited syndromic features (94.4%). However, microcephaly, neurodevelopmental disorders, major malformation, or facial dysmorphism were also frequently observed in children with an external cause. In conclusion, a significant proportion of children born with VLBW with persistent short stature have a genetic/epigenetic condition.
Asunto(s)
Enanismo , Peso al Nacer , Niño , Enanismo/diagnóstico , Enanismo/epidemiología , Enanismo/genética , Epigénesis Genética , Trastornos del Crecimiento/genética , Humanos , Lactante , Recién Nacido , Recién Nacido de muy Bajo Peso , Secuenciación del ExomaRESUMEN
OBJECTIVE: To systematically describe the short stature of patients with Diamond-Blackfan anemia and to explore factors affecting the height development of patients with Diamond-Blackfan anemia. STUDY DESIGN: This cross-sectional study was conducted at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, and the height, weight, and clinical data of 129 patients with Diamond-Blackfan anemia were collected from June 2020 to September 2020. RESULTS: The median height-age-z score (HAZ) of children affected by Diamond-Blackfan anemia was -1.54 (-6.36-1.96). Short stature was found in 37.98% of the patients. Specific Diamond-Blackfan anemia growth curves were developed for weight, height, and body mass index, separately for male and female patients. Multivariable logistic regression models showed that female sex (aOR 4.92; 95% CI 1.29-18.71; P = .0195), underweight (aOR 10.41, 95% CI 1.41-76.98, P = .0217), cardiovascular malformations (aOR 216.65; 95% CI 3.29-14279.79; P = .0118), and RPL11(aOR 29.14; 95% CI 1.18-719.10; P = .0392) or RPS26 (aOR 53.49; 95% CI 1.40-2044.30; P = .0323) mutations were independent risk factors for short stature. In the subgroup of patients who were steroid-dependent, patients with a duration of steroid therapy over 2 years (OR 2.95; 95% CI 1.00-8.66; P = .0494) or maintenance dose of prednisone >0.1 mg/kg per day (OR 3.30; 95% CI 1.02-10.72; P = .0470) had a higher incidence of short stature. CONCLUSIONS: Patients with Diamond-Blackfan anemia had a high prevalence of short stature. The risk of short stature increased with age and was associated with sex, underweight, congenital malformations, and RPL11 or RPS26 mutations. The duration of steroid therapy and maintenance dose of steroid was significantly associated with the incidence of short stature in steroid-dependent patients with Diamond-Blackfan anemia.
Asunto(s)
Anemia de Diamond-Blackfan/epidemiología , Enanismo/epidemiología , Anomalías Múltiples/epidemiología , Adolescente , Factores de Edad , Anemia de Diamond-Blackfan/tratamiento farmacológico , Anemia de Diamond-Blackfan/genética , Niño , Preescolar , China , Estudios Transversales , Enanismo/etiología , Femenino , Glucocorticoides/administración & dosificación , Glucocorticoides/efectos adversos , Humanos , Lactante , Masculino , Mutación , Prednisona/administración & dosificación , Prednisona/efectos adversos , Proteínas Ribosómicas , Factores SexualesRESUMEN
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.
Asunto(s)
Antropometría/métodos , Dieta/estadística & datos numéricos , Ingestión de Energía/fisiología , Enfermedad del Almacenamiento de Glucógeno Tipo I/diagnóstico , Evaluación Nutricional , Adolescente , Animales , Composición Corporal , Estatura/fisiología , Índice de Masa Corporal , Peso Corporal/fisiología , Niño , Preescolar , Estudios Transversales , Dieta/tendencias , Enanismo/epidemiología , Cuerpo Adiposo/fisiología , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo I/epidemiología , Enfermedad del Almacenamiento de Glucógeno Tipo I/genética , Enfermedad del Almacenamiento de Glucógeno Tipo I/metabolismo , Humanos , Masculino , Desarrollo de Músculos/fisiología , Necesidades Nutricionales , Obesidad/epidemiología , Encuestas y Cuestionarios/normas , Delgadez , Adulto JovenRESUMEN
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.
Asunto(s)
Humanos , Animales , Masculino , Femenino , Preescolar , Niño , Adolescente , Adulto Joven , Ingestión de Energía/fisiología , Enfermedad del Almacenamiento de Glucógeno Tipo I/diagnóstico , Evaluación Nutricional , Antropometría/métodos , Dieta/estadística & datos numéricos , Delgadez , Composición Corporal , Estatura/fisiología , Peso Corporal/fisiología , Cuerpo Adiposo/fisiología , Enfermedad del Almacenamiento de Glucógeno Tipo I/genética , Enfermedad del Almacenamiento de Glucógeno Tipo I/mortalidad , Enfermedad del Almacenamiento de Glucógeno Tipo I/epidemiología , Índice de Masa Corporal , Estudios Transversales , Encuestas y Cuestionarios/normas , Desarrollo de Músculos/fisiología , Dieta/tendencias , Enanismo/epidemiología , Necesidades Nutricionales , Obesidad/epidemiologíaAsunto(s)
Anomalías Craneofaciales/genética , Enanismo/genética , Genética Médica/historia , Deformidades Congénitas de las Extremidades/genética , Anomalías Urogenitales/genética , Anomalías Craneofaciales/epidemiología , Enanismo/epidemiología , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Deformidades Congénitas de las Extremidades/epidemiología , Anomalías Urogenitales/epidemiologíaRESUMEN
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.
Asunto(s)
Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Distribución por Edad , Colombia/epidemiología , Enanismo/epidemiología , Cara/anomalías , Enfermedades Genéticas Ligadas al Cromosoma X/epidemiología , Genitales Masculinos/anomalías , Deformidades Congénitas de la Mano/epidemiología , Cardiopatías Congénitas/epidemiología , Distribución por Sexo , SíndromeRESUMEN
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.
Asunto(s)
Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Adolescente , Adulto , Distribución por Edad , Niño , Preescolar , Colombia/epidemiología , Enanismo/epidemiología , Cara/anomalías , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/epidemiología , Genitales Masculinos/anomalías , Deformidades Congénitas de la Mano/epidemiología , Cardiopatías Congénitas/epidemiología , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Distribución por Sexo , SíndromeRESUMEN
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.
Asunto(s)
Indicadores de Salud , Yodo/orina , Encuestas Nutricionales , Estado Nutricional , Obesidad/epidemiología , Cloruro de Sodio Dietético/administración & dosificación , Niño , Estudios Transversales , Enanismo/epidemiología , Femenino , Humanos , Yodo/administración & dosificación , Yodo/análisis , Masculino , México/epidemiología , Obesidad/etiología , Prevalencia , Factores Socioeconómicos , Cloruro de Sodio Dietético/análisisRESUMEN
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.
Asunto(s)
Niño , Femenino , Humanos , Masculino , Indicadores de Salud , Yodo/orina , Encuestas Nutricionales , Estado Nutricional , Obesidad/epidemiología , Cloruro de Sodio Dietético/administración & dosificación , Estudios Transversales , Enanismo/epidemiología , Yodo/administración & dosificación , Yodo/análisis , México/epidemiología , Obesidad/etiología , Prevalencia , Factores Socioeconómicos , Cloruro de Sodio Dietético/análisisRESUMEN
The objective of the study was to estimate the prevalence of extreme anthropometric measurements in children indicative of their nutritional status. A cross-sectional study was conducted in a random sample of 1,386 children under five in the state of Alagoas, northeastern Brazil. The prevalence of deficits (z <-2; WHO-2006 standard) for weight-for-age (underweight), weight-for-height (wasting) and height-for-age (stunting) were 2.9% (n = 40), 1.2% (n = 17), and 10.3% (n = 144), respectively. Excess of weight-for-height (overweight) was seen in 135 children (9.7%). In conclusion, the prevalences of underweight and wasting are epidemiologically irrelevant and stunting and overweight have a similar prevalence.
Asunto(s)
Enanismo/epidemiología , Sobrepeso/epidemiología , Delgadez/epidemiología , Antropometría , Brasil/epidemiología , Distribución de Chi-Cuadrado , Preescolar , Estudios Transversales , Humanos , Lactante , Estado Nutricional/fisiología , PrevalenciaRESUMEN
Economic inequality has been hypothesized to be a determinant of population health, independent of poverty and household income. We examined the association between economic inequality and child malnutrition in Ecuador. Economic inequality was measured by the Gini coefficient of household per capita consumption, estimated from the 1990 Census. Childhood stunting, assessed from height-for-age z scores, was obtained from the 1998 Living Standards Measurement Survey (LSMS). We controlled for a range of individual and household covariates, including per capita food consumption, education, housing, ethnicity, fertility, access to health services, diarrhea morbidity, child care, mother's age and diet composition. Stunting still affects 26% of children under five in Ecuador, with higher prevalence in the rural Highlands and among indigenous peoples. Maternal education, basic housing conditions, access to health services, ethnicity, fertility, maternal age and diet composition were independently associated with stunting. However, after controlling for relevant covariates, economic inequality at the provincial scale had a statistically significant deleterious effect on stunting. At municipal or local levels, inequality was not associated with stunting.
Asunto(s)
Enanismo/economía , Abastecimiento de Alimentos/economía , Desnutrición Proteico-Calórica/economía , Condiciones Sociales/economía , Preescolar , Enanismo/epidemiología , Conducta Alimentaria , Femenino , Abastecimiento de Alimentos/normas , Accesibilidad a los Servicios de Salud/economía , Necesidades y Demandas de Servicios de Salud/economía , Necesidades y Demandas de Servicios de Salud/estadística & datos numéricos , Encuestas Epidemiológicas , Humanos , Lactante , Masculino , Encuestas Nutricionales , Grupos de Población/estadística & datos numéricos , Desnutrición Proteico-Calórica/epidemiología , Población Rural/estadística & datos numéricos , Factores Socioeconómicos , Población Urbana/estadística & datos numéricosRESUMEN
OBJECTIVE: The study is part of a project financed by the United Nations (FAO) and the Ministry of Education of Brazil (Fundação de Assistência ao Escolar) which intends to evaluate the nutritional status of public schools students in order to estimate, giving emphasis to geographical aspects, the magnitude and distribution of statural deficit of this population in the Paraíba State, Northeastern Brazil. METHODS: Schoolchildren, aged 6-9 years and enrolled in the first grade inall municipalities of Paraíba state went through a height survey. We consider as statural deficit values below -2 standard deviations according to the anthropometric pattern of National Center of Health Statistics. RESULTS: A frequency of 14. 5% of statural deficit was found in the whole state, as well as 18. 7% in the semidesertic region (sertão), 13.8% in Agreste area, 11. 9% in Borborema region and 10.9% in Mata zone. In rural area, the prevalence of statural deficit was higher (17.8%) than for those living in urban area (11.8%). CONCLUSIONS: The results reveal a process of inlanding of statural deficit, which contrasts with historical descriptions of the geographical distribution of this problem in the Northeastern region of Brazil
Asunto(s)
Estatura , Trastornos del Crecimiento/epidemiología , Encuestas Nutricionales , Brasil/epidemiología , Niño , Estudios Transversales , Enanismo/epidemiología , Femenino , Trastornos del Crecimiento/diagnóstico , Humanos , Masculino , Prevalencia , Características de la ResidenciaRESUMEN
INTRODUCTION: Recklinghausen's disease is considered to be the autosomal dominant disorder with the highest rate of mutation after achondroplasia. It is a neuroectodermal disorder with considerable clinical effects. PATIENTS AND METHODS: We present a study of 14 patients seen for café-au-lait spots in the Clinical Genetics Department of the Hospital Infantil Sur. A detailed questionnaire and physical examination was done to obtain a clinical outline. CONCLUSION: Suspicion of this condition, together with laboratory investigations led to the conclusion that the cases were neurofibromatosis.
Asunto(s)
Neurofibromatosis 1/diagnóstico , Adolescente , Adulto , Manchas Café con Leche/epidemiología , Manchas Café con Leche/etiología , Niño , Preescolar , Cuba/epidemiología , Diagnóstico por Imagen , Enanismo/epidemiología , Enanismo/etiología , Electroencefalografía , Femenino , Humanos , Lactante , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/etiología , Imagen por Resonancia Magnética , Masculino , Melanosis , Neurofibromatosis 1/epidemiología , Neurofibromatosis 1/patología , Escoliosis/epidemiología , Escoliosis/etiología , Tomografía Computarizada por Rayos XRESUMEN
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