Height and body mass index distribution in children and adolescents with and without spina bifida

Abstract Objective Children with spina bifida (SB) are at risk for stunting and overweight. However, height and Body Mass Index (BMI) z-score distribution in children and adolescents with SB are unclear. The aim of this study was to examine height and BMI z-score distribution in Brazilian children and adolescents with and without SB. This study further aimed to examine whether height and BMI z-scores differ between individuals with and without SB. Method This study included 101 participants (SB: n= 18; non-SB: n= 83, aged 7-16 years). The World Health Organization (WHO) AnthroPlus software was used to calculate height and BMI z-scores. AnthroPlus z-score distribution graphs were used to examine individual z-scores based on the 2007 WHO normal distribution curve. Effects of the group (SB vs non-SB) on height and BMI z-scores were examined with sequential regression. Results In the WHO distribution graph analysis, height z-scores of participants with SB were slightly left-shifted compared to the WHO normal distribution curve. In the regression analysis, group (SB vs non-SB) was a significant predictor of height z-scores after controlling for sex and age (ΔR2= 0.064, p= 0.010). BMI z-scores of participants with SB were right-shifted compared to the WHO normal curve. However, there was no contribution of the group to BMI z-scores (ΔR2= 0.011, p= 0.301). Conclusions These findings suggest that Brazilian children and adolescents with SB may be at risk for reduced height and increased BMI.

Nutrition transition in Brazilian children under 5 years old from 2006 to 2019 / Transição nutricional em crianças brasileiras menores de 5 anos de idade entre 2006 e 2019 / Transición nutricional en niños brasileños menores de 5 años de edad entre 2006 y 2019

Abstract: This manuscript aims to report the nutrition transition in Brazilian children under 5 years old from 2006 to 2019. Microdata from the Brazilian National Survey on Demography and Health of Women and Children (PNDS 2006) and the Brazilian National Survey on Child Nutrition (ENANI-2019) were analyzed. The indicators considered were: micronutrient status (anemia and vitamin A deficiency), anthropometric status (stunting and excessive weight), and breastfeeding practice (exclusive breastfeeding among children < 6 months and continued breastfeeding among children 12-23 months). We also analyzed minimum dietary diversity (MDD), consumption of ultra-processed foods, consumption of meat or eggs, and not consuming fruits or vegetables in children 6-59 months of age only for ENANI-2019. Equiplot charts were generated according to geographic region, maternal schooling level, and maternal race/skin color. From 2006 to 2019, the prevalence rates of anemia and vitamin A deficiency decreased from 20.5% to 10.1% and 17.2% to 6%, respectively. The prevalence of stunting remained at 7%, and excessive weight rates increased from 6% to 10.1%. The prevalence of exclusive breastfeeding among children < 6 months increased from 38.6% to 45.8%, and of continued breastfeeding among children 12-23 months from 34.6% to 43.6%. In 2019, 61.5% of children achieved the MDD, 88.8% consumed ultra-processed foods, 83.1% consumed meat or egg, and 25.7% did not consume fruits or vegetables the day before the survey. Trends of decreased micronutrient deficiencies, increased breastfeeding, and excessive weight rates, as well as reductions in disparities related to geographic region, maternal schooling level, and maternal race/skin color, were observed for most of the indicators.

Resumo: Buscamos reportar a transição nutricional em crianças brasileiras menores de 5 anos de idade entre 2006 e 2019. Foram analisados microdados da Pesquisa Nacional de Demografia e Saúde da Criança e da Mulher (PNDS 2006) e do Estudo Nacional de Alimentação e Nutrição Infantil (ENANI-2019). Foram considerados os seguintes indicadores: status de micronutrientes (anemia e deficiência de vitamina A), estado nutricional antropométrico (excesso de peso e baixa estatura) e a prática de aleitamento materno (aleitamento materno exclusivo entre crianças < 6 meses e aleitamento materno continuado entre crianças de 12-23 meses). Analisamos a diversidade alimentar mínima (DAM), o consumo de alimentos ultraprocessados, de carne ou ovos e o não consumo de frutas ou hortaliças apenas para o ENANI-2019 em crianças de 6-59 meses de idade. Equiplots foram gerados de acordo com a região geográfica, escolaridade e raça/cor da pele maternas. Entre 2006 e 2019, as prevalências de anemia e deficiência de vitamina A diminuíram de 20,5% para 10,1% e de 17,2% para 6%, respectivamente. A prevalência de déficit de estatura manteve-se em 7% e a de excesso de peso aumentou de 6% para 10,1%. A prevalência de aleitamento materno exclusivo entre crianças < 6 meses aumentou de 38,6% para 45,8% e a de aleitamento materno continuado entre crianças de 12-23 meses aumentou de 34,6% para 43,6%. Em 2019, 61,5% das crianças atingiram a DAM, 88,8% consumiram alimentos ultraprocessados, 83,1% consumiram carne ou ovos e 25,7% não consumiram frutas ou hortaliças no dia anterior à pesquisa. Observamos tendências de diminuição das deficiências de micronutrientes, aumento do aleitamento materno e excesso de peso e reduções em disparidades regional, de escolaridade e de raça/cor da pele maternas para a maioria dos indicadores.

Resumen: Buscamos informar sobre la transición nutricional en niños brasileños menores de 5 años entre 2006 y 2019. Se analizaron microdatos de la Encuesta Nacional de Demografía y Salud del Niño y de la Mujer (PNDS 2006) y del Encuesta Nacional de Alimentación Nutrición Infantil (ENANI-2019). Se consideraron los siguientes indicadores: estado de micronutrientes (anemia y deficiencia de vitamina A), estado nuricional antropométrico (sobrepeso y baja estatura) y la práctica de la lactancia materna (lactancia materna exclusiva en niños < 6 meses y lactancia materna continua entre niños de 12-23 meses) como indicadores. Analizamos la diversidad dietética mínima (DDM), el consumo de alimentos ultraprocesados, carne o huevos, y el no consumo de frutas o verduras solo para ENANI-2019 en niños de 6-59 meses de edad. Se generaron equiplots en función de la región geográfica, la educación y raza/color de la piel de la madre. Entre 2006 y 2019, las prevalencias de anemia y deficiencia de vitamina A disminuyeron del 20,5% al 10,1% y del 17,2% al 6%, respectivamente. La prevalencia del déficit de estatura se mantuvo en el 7 % y la de sobrepeso aumentó del 6% al 10,1%. La prevalencia de lactancia materna exclusiva en niños < 6 aumentó del 38,6% al 45,8% y la de lactancia materna continua entre niños de 12-23 meses aumentó del 34,6% al 43,6%. En 2019, el 61,5% de los niños alcanzaron DDM, el 88,8% consumieron alimentos utraprocesados, el 83,1% consumieron carne o huevos y el 25,7% no consumieron frutas o verduras el día anterior a la encuesta. Observamos tendencias de disminución de las deficiencias de micronutrientes, un aumento de la lactancia materna y sobrepeso y reducciones en las disparidades regionales, de escolaridad y de raza/color de la piel de la madre para la mayoría de los indicadores.

Malnutrition in mother-child dyads in the Brazilian National Survey on Child Nutrition (ENANI-2019) / Má nutrição em díades mãe-filho no Estudo Nacional de Alimentação e Nutrição Infantil (ENANI-2019) / Malnutrición en díadas madre-hijo en el Estudio Nacional de Alimentación y Nutrición Infantil (ENANI-2019)

Abstract: Malnutrition affects billions of individuals worldwide and represents a global health challenge. This study aimed to determine the prevalence of malnutrition (undernutrition or overweight) among mother-child dyads in children under 5 years old in Brazil in 2019 and to estimate changes in this prevalence from 2006 to 2019. Individual-level data from the Brazilian National Survey on Child Nutrition (ENANI-2019) and the Brazilian National Survey of Demography and Health of Women and Children carried out in 2006 (PNDS 2006) were analyzed. Malnutrition outcomes in mother-child dyads included overweight mother and child, undernourished mother and child, and the double burden of malnutrition, i.e., overweight mother and child having any form of undernourishment (stunting, wasting, or underweight). Prevalence and 95% confidence intervals (95%CI) were estimated. Most women (58.2%) and 9.7% of the children were overweight, 6.9% were stunted, and 3.1% of mothers and 2.9% of the children were underweight. The prevalence of overweight in the mother-child dyad was 7.8% and was statistically higher in Southern Brazil (9.7%; 95%CI: 7.5; 11.9) than in the Central-West (5.4%; 95%CI: 4.3; 6.6). The prevalence of overweight mother and stunted child was 3.5%, with statistically significant difference between the extremes of the mother's education [0-7 vs. ≥ 12 years, 4.8% (95%CI: 3.2; 6.5) and 2.1%, (95%CI: 1.2; 3.0), respectively]. Overweight in the dyad increased from 5.2% to 7.8%, and the double burden of malnutrition increased from 2.7% to 5.2% since 2006. Malnutrition in Brazilian mother-child dyads seems to be a growing problem, and dyads with lower formal education, higher maternal age, and from the South Region of Brazil were more vulnerable.

Resumo: A má nutrição afeta bilhões de indivíduos em todo o mundo e representa um desafio de saúde global. Este estudo teve como objetivo determinar a prevalência de má nutrição (desnutrição ou excesso de peso) entre díades mãe-filho em crianças menores de cinco anos no Brasil em 2019 e estimar as mudanças nessa prevalência de 2006 a 2019. Foram analisados dados individuais do Estudo Nacional de Alimentação e Nutrição Infantil (ENANI-2019) e da Pesquisa Nacional de Demografia e Saúde da Criança e da Mulher realizada em 2006 (PNDS 2006). Os desfechos de má nutrição incluíram mãe e filho com excesso de peso, mãe e filho desnutridos e a dupla carga de má nutrição, ou seja, mãe com excesso de peso e filho com qualquer forma de desnutrição (défict de crescimento, magreza ou baixo peso). Foram estimadas a prevalência e os intervalos de 95% de confiança (IC95%). A maioria das mulheres (58,2%) e 9,7% das crianças estavam acima do peso, 6,9% apresentaram déficit de crescimento e 3,1% das mães e 2,9% das crianças estavam abaixo do peso. A prevalência de excesso de peso na díade mãe-filho foi de 7,8% e foi estatisticamente maior no Sul do Brasil (9,7%; IC95%: 7,5; 11,9) do que no Centro-oeste (5,4%; IC95%: 4,3; 6,6). A prevalência de mãe com sobrepeso e filho com déficit de crescimento foi de 3,5%, com uma diferença estatisticamente significante entre os extremos de escolaridade materna [(0-7 vs. ≥ 12 anos de estudo), 4,8% (IC95%: 3,2; 6,5) and 2,1% (IC95%: 1,2; 3,0), respectivamente]. O excesso de peso na díade aumentou de 5,2% para 7,8% e a dupla carga de má nutrição aumentou de 2,7% para 5,2% desde 2006. A má nutrição nas díades mãe-filho brasileiras parece ser um problema crescente, sendo as mais vulneráveis aquelas com menor escolaridade e maior idade materna e residentes na Região Sul do Brasil.

Resumen: La malnutrición afecta a muchas personas en todo el mundo y representa un desafío para la salud mundial. Este estudio tuvo como objetivo determinar la prevalencia de malnutrición (desnutrición o sobrepeso) entre díadas madre-hijo en niños menores de cinco años en Brasil en 2019 y estimar cambios en esta prevalencia de 2006 a 2019. Se analizaron datos individuales del Estudio Nacional de Alimentación y Nutrición Infantil (ENANI-2019) y de la Encuesta Nacional de Demografía y Salud del Niño y de la Mujer de 2006 (PNDS 2006). Los resultados de la malnutrición incluyeron a madre e hijo con sobrepeso, madre e hijo desnutridos y la doble carga de mala nutrición, es decir, madre con sobrepeso e hijo con cualquier forma de desnutrición (retardo en el crecimiento, emaciación o bajo peso). Se calcularon prevalencias y los intervalos de 95% de confianza (IC95%). La mayoría de las mujeres (58,2%) y el 9,7% de los niños tenían sobrepeso, el 6,9% de los niños presentaban retraso en el crecimiento, y el 3,1% de las madres y el 2,9% de los niños, bajo peso. La prevalencia de sobrepeso en la díada madre-hijo fue del 7,8%, estadísticamente mayor en el Sur de Brasil (9,7%; IC95%: 7,5; 11,9) que en el Centro-Oeste (5,4%; IC95%: 4,3; 6,6). La prevalencia de madres con sobrepeso y de niños con retraso del crecimiento fue del 3,5%, con una diferencia estadísticamente significativa entre los extremos de nivel educativo de la madre [(0-7 vs. ≥ 12 años de nivel educativo), 4,8% (IC95%: 3,2; 6,5) y 2,1% (IC95%: 1,2; 3,0), respectivamente]. El sobrepeso en la díada tuvo un aumento del 5,2% al 7,8%, y la doble carga de mala nutrición aumentó del 2,7% al 5,2% desde 2006. La malnutrición en la díada madre-hijo brasileña resulta ser un problema creciente, siendo las más vulnerables aquellas con menor escolaridad y mayor edad materna y residentes en la Región Sur de Brasil.

Dynamic Self-Determination of Self-Care and Positive Deviance Model for Stunting Prevention in Indonesia

ABSTRACT Objective: To describe the dynamic self-determination of self-care (DSDoSC) and positive deviance (PD) models in changing stunting prevention behavior. Material and Methods: This research is a quasi-experimental study with a sample of 90 mothers taken by purposive sampling. Thirty mothers were given the DSDoSC intervention, 30 were given the PD intervention, and another 30 were in the control group. This research was conducted in July - October 2019. The variables studied were feeding behavior, nurturing behavior, personal hygiene behavior, environmental cleanliness and air sanitation, and behavior seeking health services. To analyze the difference in mother behaviour before and after test, we used Paired t-test. Analysis of Variance (MANOVA) was used to analyze the difference of mother behaviour among groups. The level of significance was p<0.05. Results: The PWD group showed that eating behavior, parenting behavior, personal hygiene behavior, environmental hygiene and water sanitation, and behavior seeking health services had significant numbers. In the DSDoSC group, eating behavior, parenting behavior, environmental hygiene, water sanitation and health service-seeking behavior were significantly (p<0.05). The results of the Manova test showed that there was an effect of PD and DSDoSC on stunting prevention behavior. Conclusion: Self-dynamic for self-care model and the positive deviance model both can change a mother's behavior for the better in feeding, parenting, environmental hygiene, and water sanitation, seeking health services, but not changing behavior about personal hygiene behavior.

Age‑Appropriate Feeding Practices and Nutritional Status of Slum‑Dwelling Young Children in Kolkata during COVID‑19 Pandemic: A Cross‑Sectional Study

Introduction: COVID‑19 pandemic was postulated to affect the infant and young child feeding (IYCF) practices and their nutritional status. This study was planned to assess IYCF practices and nutritional status of infant and young children residing in slum areas and their association with selected background characteristics. Materials and Methods: Acommunity‑based, cross‑sectional study was conducted in slums of Kolkata Municipal Corporation among 161 mother–child dyads from October to December 2020. After obtaining informed consent, mothers were interviewed to collect information about their socioeconomic status, hardship faced during pandemic, and IYCF practices of their children using indicators proposed by the World Health Organization and Government of India. Weight and height were measured using the standard operating protocol. The proportion was used to express descriptive statistics. Binary logistic regression models were used for calculating the adjusted odds ratio (AOR) using PSPP (v 1.20). Results: Only 64 (39.8%) children received age‑appropriate feeding; 73 (45.3%) had single/multiple anthropometric failure(s). Reduction of family income was reported by 142 (88.2%) respondents. Children aged 6–8 months (AOR = 17.08, 6.43–45.42) were more likely to not have appropriate feeding. Association of female gender (AOR = 2.00, 1.01–4.00), maternal education less than middle class (AOR = 2.58, 1.22–5.46), and lack of appropriate feeding (AOR = 2.57, 1.08–6.12) were statistically significant with the presence of anthropometric failure. Conclusions: The study revealed a dismal scenario of child feeding and nutritional status of young children in the urban slums of Kolkata. Pandemic and imposed restrictions hit the families hard by reducing income and increasing food‑related costs.

Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

Abstract A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.

Dietary patterns in Mexican preschool children are associated with stunting and overweight

ABSTRACT OBJECTIVE To evaluate the association between dietary patterns, stunting, and overweight among Mexican preschoolers. METHODS This study was conducted with anthropometric (weight, height/length), sociodemographic (age, gender, education level of household head, socioeconomic status, country region and area, ethnicity, and beneficiary of social programs), and dietary data (Semiquantitative-food frequency questionnaire) on children aged from 1 to 4 years collected from the Mexican National Health and Nutrition Survey-2012. Dietary patterns were derived by principal components analysis. The association between dietary patterns, stunting, and overweight was assessed by prevalence ratios (PR), estimated by Poisson regression. RESULTS In total, 1,112 preschoolers (mean age 3.06 years, SD = 1.08 years; 48.8% females) were included in the study; 11.9% of whom presented stunting, and 6.7% overweight. We identified four dietary patterns: Fruits and Vegetables [F&V], Western [W], Traditional [T], and Milk and Liquids [M&L]. Considering the lowest tertile of each dietary pattern as reference, the prevalence of stunting was 2.04 times higher [95%CI: 1.17-3.56] among children in the highest tertile of the "F&V" pattern. The prevalence of stunting was lower among children in the highest tertile of the "W" pattern [PR = 0.48; 95%CI: 0.27-0.85]. Overweight was negatively associated with the "F&V" dietary pattern [PR = 0.37; 95%CI: 0.16-0.85 for its highest tertile], and children whose consumption was mostly equivalent to the "T" pattern showed higher prevalence of stunting [PR = 1.74; 95%CI: 1.01-3.00]. CONCLUSIONS The prevalence of stunting and overweight in a nationwide sample of Mexican preschoolers was associated with dietary patterns.

Prevention of preeclampsia recurrence with low dose aspirin during pregnancy / 中国基层医药

Objective:To investigate the clinical efficacy of low-dose aspirin in the prevention of preeclampsia recurrence during pregnancy.Methods:Thirty-six women in the first trimester of pregnancy who received examination in Hangzhou Women's Hospital from January 2018 to June 2019 were included in this study. All included women had a history of preeclampsia or severe preeclampsia and met the indications of oral aspirin. They were randomly divided into A ( n = 14) and B ( n = 22) groups. An additional 51 pregnant women who had no history of preeclampsia or severe preeclampsia were included in the control group. The A group was given oral aspirin 50-100 mg/d starting from the second trimester of pregnancy. The other two groups were not given oral aspirin at the same time. Pregnancy outcomes (including delivery weeks, cesarean delivery, placental abruption, preeclampsia, postpartum hemorrhage and gestational hypertension) and urine protein were compared between groups. Neonatal outcomes in different groups were analyzed. Results:The incidence of eclampsia in B group was [40.91% (9/22)], which was significantly higher than [7.14% (1/14)] in A group and [0.00% (0/51)] in control group ( χ2 = 9.872, 12.031, both P < 0.05). The cesarean delivery rate in B group was [22.73% (5/22)], which was significantly higher than 7.14% (1/14) in A group and 5.88% (3/51) in control group ( χ2 = 8.072, 10.810, both P < 0.05). Delivery weeks in A and control groups were (42.78 ± 1.32) weeks and (43.14 ± 1.17) weeks, respectively, which were significantly longer than (35.08 ± 2.03) weeks in group B ( F = 13.765, P < 0.05). The amount of blood loss in A and control groups was (217.62 ± 19.85) mL and (211.37 ± 18.56) mL, respectively, which was significantly less than (233.05 ± 22.37) mL in B group ( F = 18.873, P < 0.05). The Apgar score of newborns in B group was (6.03 ± 0.54) points, which was significantly lower than (9.58 ± 0.86) points in A group and (9.73 ± 0.85) points in control group ( F = 9.037, P < 0.05). The incidence of intrauterine growth restriction [7.14% (1/14), 5.88% (3/51)] and the incidence of preterm birth [7.14% (1/14), 5.88% (3/51)] in A and control groups were significantly lower than those in B group [22.73% (1/22), 15.00% (3/22), χ2 = 10.651, 14.040, 11.715, 13.602, all P < 0.05]. There were no significant differences in the incidence of neonatal death and hemorrhagic diseases among the three groups ( χ2 = 2.020, 3.606, both P > 0.05). Conclusion:Aspirin enteric coated tablets 50-100 mg/d per day for management of pregnant women at a high risk for preeclampsia at 12 weeks of gestation can decrease the incidence of preeclampsia to a certain extent, which is worthy of clinical application.

Recomendaciones para el uso de la hormona de crecimiento humana recombinante en pacientes pediátricos de talla baja en Colombia / Recommendations for treatment with recombinant human growth hormone in pediatric patients in Colombia

resumen está disponible en el texto completo

Abstract In Colombia there are no guidelines for diagnosis and management of patients with short stature and for the use of recombinant human growth hormone, mainly caused by the diversity of training centers in pediatric endocrinology. In response to this situation, the Asociación Colegio Colombiana de Endocrinología Pediátrica leds the first colombian short stature expert committee in order to standardize the use of human recombinant growth hormone. This work had the participation and endorsement of a consortium of clinical experts representing the Sociedad Colombiana de Pediatría, Secretaría Distrital de Salud de Bogotá- Subred Integrada de Servicios de Salud Suroccidente, Fundación Universitaria Sanitas, Universidad de los Andes and some public and private health institutions in the country, in addition to the participation of methodological experts from the Instituto Global de Excelencia Clínica Keralty. By reviewing the literature and with the best available evidence, we proposed to unify definitions, a diagnostic algorithm, biochemical and dynamic tests with their reference parameters, a description of the considerations about growth hormone use among the indications approved by regulatory agency for medications and food in Colombia and finally a proposal for an informed consent and a medication fact sheet available for parents and patients.

Talla baja en niños con defectos cardíacos congénitos sometidos a cirugía cardíaca / Short stature among children undergoing cardiac surgery for congenital heart defects

Introducción. Los niños con cardiopatías congénitas (CC) presentan malnutrición por déficit; una posible consecuencia a largo plazo es la talla baja. Objetivo. Describir la presencia de talla baja en niños con CC al momento de su cardiocirugía. Población y métodos. Estudio retrospectivo. Se incluyeron niños sometidos a cardiocirugía con circulación extracorpórea en 2009-2013. Se excluyeron prematuros, con síndromes genéticos u otra enfermedad con compromiso nutricional. Se estudiaron variables demográficas, diagnóstico cardiológico, cirugía de ingreso y evaluación antropométrica según estándares de la Organización Mundial de la Salud; se definió talla baja como ZT/E < -2 desvíos estándar, según sexo. Resultados. Se estudiaron 640niños; 361 varones (el 56,4 %); mediana de edad: 8 meses (RIC: 1,9; 34,6); 66 niños tuvieron > 1 cirugía; 27 de ellos (el 40,9 %), con hipoplasia del ventrículo izquierdo. Fueron CC cianóticas 358 (el 55,9 %), con fisiología univentricular 196 (el 30,6 %). La mediana de ZT/E fue -0,9 (RIC: -1,9; -0,1); presentaron talla baja 135 (el 21,1 %), el 11 % en neonatos y el 24,1 % en mayores de un mes. Se encontró mayor frecuencia de talla baja en reparación completa de canal atrioventricular en 4/6 niños, reparación de tetralogía de Fallot en 15/39, Glenn en hipoplasia del ventrículo izquierdo en 8/25, cierre de comunicación interventricular en 34/103. No se encontró asociación ni diferencia con significación estadística entre talla baja y cianosis ni según fisiología univentricular. Conclusiones. Existe una alta frecuencia de talla baja en niños con CC, con diferencias según el diagnóstico cardiológico y la cardiocirugía realizada.

Introduction. Children with congenital heart diseases (CHDs) suffer from malnutrition because of nutritional deficiencies, being short stature the possible long-term consequence. Objective. To describe the presence of short stature among children undergoing cardiac surgery for CHDs. Population and methods. Retrospective study. Children undergoing cardiac surgery with cardiopulmonary bypass pump between 2009 and 2013 were included. Preterm infants, carriers of genetic syndromes or other disease with nutritional compromise were excluded. Demographic data, type of CHD, admission surgery and anthropometric assessment using the WHO standards were studied. Short stature was defined as lenght/height for age Z score < -2 standard deviations, by sex. Results. A total of 640 children were studied; 361 (56.4 %) were boys; median age: 8 months (IQR: 1.9; 34.6); 66 children underwent > 1 surgery; 27 of them (40.9 %) had hypoplasia of the left ventricle. There were 358 (55.9 %) infants with cyanotic CHDs, 196 (30.6 %) with univentricular physiology. The median HAZ was -0.9 (IQR: -1.9; -0.1); 135 (21.1 %) had a short stature, 11 % of newborn infants and 24.1 % of older than one month old. A higher frequency of short stature was observed in 4 out of 6 children who underwent complete repair of the atrioventricular canal, in 15 out of 39 infants with repair of tetralogy of Fallot, in 8 out of 25 infants with hypoplasia of the left ventricle subjected to Glenn procedure, and in 34 out of 103 with closure of the ventricular septal defect. No association or statistically significant difference was found between short stature and cyanosis or univentricular physiology. Conclusions. There is a high frequency of short stature among children with CHDs, with differences according to the type of CHD and cardiac surgery performed.

Repercussions of inborn errors of immunity on growth / Repercussões dos erros inatos da imunidade sobre o crescimento

Abstract Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of growth disorders in patients with inborn errors of immunity, which can help in their treatment. Data sources: Non-systematic review of the literature, searching articles since 2000 in PubMed with the terms "growth", "growth disorders", "failure to thrive", or "short stature" AND "immunologic deficiency syndromes", "immune deficiency disease", or "immune deficiency" NOT HIV. The Online Mendelian Inheritance in Man (OMIN) database was searched for immunodeficiencies and short stature or failure to thrive. Data summary: Inborn errors of immunity can affect growth in different ways, and some of them can change growth through multiple simultaneous mechanisms: genetic syndromes; disorders of the osteoarticular system; disorders of the endocrine system; reduction in caloric intake; catabolic processes; loss of nutrients; and inflammatory and/or infectious conditions. Conclusions: The type of inborn errors of immunity allows anticipating what type of growth disorder can be expected. The type of growth disorder can help in the diagnosis of clinical conditions related to inborn errors of immunity. In many inborn errors of immunity, the causes of poor growth are mixed, involving more than one factor. In many cases, impaired growth can be adjusted with proper inborn errors of immunity treatment or proper approach to the mechanism of growth impairment.

Resumo Objetivos: Revisão da literatura sobre as repercussões dos diferentes erros inatos da imunidade sobre o crescimento, chamar a atenção para o diagnóstico desse grupo de doenças em pacientes que apresentem desordens do crescimento, assim como permitir que se identifiquem as diferentes causas de alterações do crescimento em pacientes com erros inatos da imunidade, o que pode auxiliar em seu manejo. Fonte dos dados: Revisão não sistemática da literatura, com busca de artigos desde 2000 no Pubmed com os termos "growth" ou "growth disorders" ou "failure to thrive" ou "short stature" AND "immunologic deficiency syndromes" ou "immune deficiency disease" ou "imune deficiency" NOT HIV. E buscas na base OMIN (Online Mendelian Inheritance in Man) por imunodeficiências e baixa estatura ou falha no crescimento ("failure to thrive"). Síntese dos dados: Há diferentes modos pelos quais os erros inatos da imunidade podem afetar o crescimento e alguns deles podem alterar o crescimento por múltiplos mecanismos simultâneos: síndromes genéticas; afecções do aparelho osteoarticular; afecções do sistema endócrino; redução de aporte calórico; processos catabólicos: perda de nutrientes, assim como afecções inflamatórias e/ou infecciosas. Conclusões: O tipo de erros inatos da imunidade permite prever que tipo de alteração no crescimento devemos esperar. O tipo de alteração no crescimento pode auxiliar no diagnóstico de condições clínicas associadas aos erros inatos da imunidade. Em muitos erros inatos da imunidade, as causas do crescimento deficiente são mistas, envolvem mais de um fator. Em muitos casos, o prejuízo do crescimento pode ser corrigido com o adequado tratamento dos erros inatos da imunidade ou adequada abordagem do mecanismo que causa o prejuízo do crescimento.

Effects of parathyroid hormone - related peptide receptor in tibial growth plate on tibial extension in chronic renal insufficiency rats / 中华肾脏病杂志

Objective To observe the expression of parathyroid hormone - related peptide (PTHrp) receptor in tibial growth plate and its effects on tibial extension in chronic renal insufficiency rats. Methods Two-week-old male Sprague-Dawley rats were randomly divided into sham group, model group and enalapril group, each with 20 rats. In model group and enalapril group rats had chronic renal insufficiency induced by left ureteral obstruction, and rats were respectively given saline and enalapril by gavage after the operation. In sham group, left ureter was only exposed without ligation, and rats were given saline. The urine was collected 4 weeks after the operation and the total protein content was measured. Then all rats were killed. The concentrations of PTHrp, creatinine and urea nitrogen in intracardiac blood were detected. HE staining and Masson staining were performed on the left kidney to observe pathological changes of glomeruli and renal tubules. The total length of bilateral tibia was measured. The number of columnar cells in the growth plate proliferative zone was measured by safranin O staining and the expression of PTHrp receptor in the growth plate was detected by immunohistochemistry. Results The 24 h urine total protein, creatinine and urea nitrogen in model group were higher than those in sham group (all P＜0.05), while these 3 renal functional parameters in enalapril group were lower than those in model group (all P＜0.05). In model group and enalapril group rats had higher blood concentrations of PTHrp than that in sham group (all P＜0.05), but blood PTHrp in enalapril group was lower than that in model group (P＜0.05). HE staining and Masson staining showed that in the model group rats had severe tubular dilation, inflammatory cell infiltration and the tissue fibrosis, while in enalapril group renal tubules slightly dilated and had a few inflammatory cell infiltration and tissue fibrosis. Compared with those in the sham group, in model group the tibia length, the chondrocyte number of column structure in the growth plate proliferative zone and the PTHrp receptor decreased (all P＜0.05). But in enalapril group those indexes increased than model group (all P＜0.05). Conclusions Chronic renal insufficiency rats had increased PTHrp concentration in the blood but decreased PTHrp receptors expression in tibial growth plate, which lead to their limited tibial extension.

Early growth and development of extremely / very low birth weight infants after discharge / 中华围产医学杂志

Objective To investigate the early growth and development of extremely low birth weight infants (ELBWI) and very low birth weight infants (VLBWI) through a follow-up study from hospital discharge until 18 months of corrected age.Methods ELBWI and VLBWI who were hospitalized and discharged alive from the Neonatal Intensive Care Unit of Hunan Children's Hospital from January 2013 to June 2014 were recruited.Follow-ups were performed at the corrected age of 40 weeks,as well as at one,three,six,12 and 18 months of corrected age.Several parameters indicating the growth and development of those infants were monitored and assessed.Extrauterine growth retardation (EUGR) was defined as head circumference (HC) or weight ≤ 10th percentile for gestational age at discharge.T-,rank-sum,or Chi-square (or Fisher's exact) test was performed for statistical analysis.Results (1) A total of 285 ELBWI and VLBWI were recruited.Among them,145 (50.9％) were alive at last follow-up,37 (13.0％) died,and 103 (36.1％) were lost.No significant differences in clinical data were observed between the infants who completed the follow-up and those who did not (all P＞0.05).(2) Based on HC and weight,the incidences of EUGR in the 145 infants reached the peak at the corrected age of three months [42.8％ (62/145) and 40.0％ (58/145)],and then declined with increasing age.At 18 months of corrected age,the incidences of EUGR dropped to 31.7％ (46/145) and 14.5％ (21/145),respectively.(3) There were no significant differences in gender,gestational age,birth weight,length of hospital stay,duration of oxygen therapy,and incidences of complications between the infants with and without EUGR (allP＞0.05).(4) The rate of pulmonary surfactant therapy in neonates with EUGR was lower than in those without [27.8％ (15/54) vs 53.8％ (49/91),x2=9.340,P＜0.05].There were no significant differences in mental development index and psycho-motor development index at 12 and 18 months of corrected age between the neonates with and without EUGR (all P＞0.05).Neither HC nor weight at the corrected age of 18 months showed significant differences between the two groups (both P＞0.05).(5) At 18 months of corrected age,31.7％ (46/145) of the infants had their HC ≤ 10th percentile,and 14.5％ (21/145) had their weight ≤ 10th percentile.Infants with HC ≤ 10th percentile were at higher risk of abnormal neurodevelopment than those with HC ＞10th percentile [67.4％ (31/45) vs 40.4％ (40/99),X=9.154].Infants with either HC or weight ≤ 10th percentile had higher risk of abnormal neurodevelopment that those with both HC and weight ＞10th percentile [65.5％ (36/55) vs 38.9％ (35/90),x2=9.641] (both P＞0.05).Conclusions ELBWI/VLBWI are at high risk of growth retardation.Incidence of growth restriction declines with age.

Clinical-grade gene curation strategy in the development of short stature related gene panel by next generation sequencing / 中华检验医学杂志

Objective Design short stature panel with gene curration strategy.Methods The gene curation process was introduced in detail.The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence.This process in short stature panel design and its effect on gene selection was further demonstrated.Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705.The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients.The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate.Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.

Short stature, primary care approach and diagnosis / Talla baja, enfoque de primer nivel y diagnóstico

RESUMEN El siguiente artículo tiene como objetivo principal dar un enfoque de primer nivel a uno de los motivos de consulta más frecuentes en pediatría y medicina general, la talla baja. El número de consultas por talla baja en la infancia es mucho mayor en niños que en niñas, pero la mayoría de las veces las niñas presentan mayor prevalencia de patologías orgánicas y desordenes del crecimiento que los niños. Cuando recibimos a un paciente que consulta por talla baja debemos hacer una serie de preguntas dirigidas y tomar ciertas medidas antropométricas para poder llegar a un diagnóstico correcto. El médico general de primer nivel debe entender el significado de cada una de estas medidas y clasificar al niño en talla baja variante normal o patológica. Luego de esto el niño debe volver a ser clasificado, si se determinó que era variante normal, en talla baja familiar o retardo constitucional del crecimiento y el desarrollo, que constituyen cerca del 80%. MÉD.UIS. 2016;29(3):73-8.

ABSTRACT The following review article main objective seeks to provide an approach from a health care first level institution, of one of the most frequent queries in pediatrics and general medicine, stunted growth. The relation of consults for short stature in children is higher in boys rather than girls, but most of the times girls have more prevalence of organic diseases and growth disturbances than boys. When we receive a patient who complains of short stature, we should ask a series of questions and take some anthropometric measures to classify the child and determine the diagnosis. The first level doctor has to understand the meaning of these measures and determine if the child's short stature is whether pathological or physiological. Then the child has to be classified again, if it is a physiological short stature, he needs to be group into genetic short stature or constitutional delay of growth and development, which constitutes by far the 80% of the cases. MÉD.UIS. 2016;29(3):73-8.

Concordancia en la talla para la edad entre referencias NCHS y OMS en indígenas colombianos / Correlation of size and age in Colombian indigenous children based on WHO and NCHS references

Objetivo Evaluar la concordancia en talla para la edad entre referencias antropométricas de crecimiento en niños indígenas colombianos estudiados en la Encuesta Nacional de la Situación Nutricional de Colombia 2010 -ENSIN 2010-. Métodos Análisis secundario de 2 598 datos de indígenas colombianos menores de cinco años evaluados en la ENSIN 2010. Las variables fueron talla para la edad, se-xo, altitud, lugar de residencia, departamento y estrato socioeconómico. La clasificación del déficit en talla con las referencias del Centro Nacional de Estadísticas en Salud de Estados Unidos (NCHS) y de la Organización Mundial de la Salud (OMS) se hizo mediante puntaje Z <-2 con el software Anthro. Se estimó el coeficiente kappa para evaluar concordancia entre las categorías antropométricas y se clasificó con la propuesta de Altman DG. Resultados Más de uno de cada cuatro menores presentó déficit de talla con ambas referencias antropométricas. La prevalencia de déficit de talla fue superior al usar el patrón de la OMS, aumentó con la edad y fue mayor en los niños y quienes residían en baja altitud (m.s.n.m.). La concordancia entre las dos referencias fue buena (kappa ≥0,688, p=0,000) en los niños de ambos sexos y en todas las edades. La excepción fue para los de 2 años, pues fue moderada (kappa 0,601, p=0,000). El mayor desacuerdo en la clasificación se observó en la categoría de altos. Conclusión Según la concordancia estadística encontrada entre las dos referencias antropométricas (OMS vs NCHS) podría usarse cualquiera en la evaluación de la talla para la edad.

Objective To evaluate the correlation of size, according to age, of the anthropometric growth references of Colombian indigenous children studied in Encuesta Nacional de la Situación Nutricional de Colombia 2010 -ENSIN 2010 (National Survey of Nutrition in Colombia - 2010). Method A secondary analysis of 2598 data of indigenous Colombian children under five years of age, evaluated by ENSIN in 2010, was performed. The considered variables were size according to age, gender, height, place of residence, department and socioeconomic position. The classification of the deficit in size, based on the references of the National Center for Health Statistics (NCHS) and the World Health Organization (WHO), was made by using the Z <-2 score and the Anthro software. The Kappa coefficient was estimated to assess the correlation between anthropometric categories and was classified taking into account the proposal of Altman DG. Results One in four children had a deficit in size in the light of both anthropometric references. The prevalence of the deficit was higher when using the WHO standard, increased with age and was higher in children who resided in low altitude (m). The correlation between the two references was good (kappa ≥0,688, p=0,000) for children of both genders and all ages; the exception corresponded to children of age two, since it was moderate (kappa=0,601, p=0,000). The greatest disagreement in the classification was observed in the category "tall". Conclusion According to the statistical correlation found between the two anthropometric references (WHO vs. NCHS), any reference could be used for assessment of size according to for age.

Estatura final en niños con talla baja idiopática tratados con hormona del crecimiento / Adult height of children with idiopathic short stature treated with growth hormone therapy

Introducción: La talla baja idiopática (TBI) se define como talla ≤ 2 desviaciones estándar (DE) sin causa precisada. El uso de la hormona de crecimiento (GH) en TBI es controvertido y no existen resultados de talla final (TF) en pacientes chilenos. El objetivo de este trabajo es comparar la TF de pacientes con TBI tratados con GH con la predicción de talla adulta al inicio de tratamiento. Pacientes y método: 18/47 pacientes con TBI tratados con GH y que alcanzaron su TF. Se definió TF con edad ósea (EO) ≥ 17 años en hombres y ≥ 15 años en mujeres. Para comparar se consideró la DE de la talla según curvas NCHS al inicio y final de tratamiento. El pronóstico de talla adulta (PTA) se calculó utilizando la EO mediante el método de Bayley-Pinneau. Resultados: La talla inicial fue 133,1 ± 6,8 cm (-2,1 ± 0,85 DE) y el PTA de -1,94 ± 0,86 DE. Los pacientes se trataron desde los 11,6 ± 1,2 años durante un tiempo de 1,56 ± 0,65 años. Al año de tratamiento su talla fue -1,64 ± 0,69 DE y la talla final fue -1,28 ± 0,62 DE (163,76 ± 7,22 cm). Se obtuvo un aumento en la TF de 2,67 ± 5,88 cm (equivalente a 0,67 ± 0,9 DE). Conclusión: Nuestros resultados demuestran que el tratamiento con GH fue eficaz para incrementar TF en pacientes con TBI, con una duración mayor a un año de tratamiento. Hasta donde sabemos este constituye el primer reporte de talla final en pacientes chilenos con TBI tratados con GH.

Introduction: Idiopathic short stature (ISS) is defined as a height of < - 2 standard deviations (SD) from the mean for age. The use of Growth Hormone (GH) in ISS is controversial, and there are not results for adult height (AH) in Chilean patients with ISS treated with GH. The objective of the study is to compare AH in patients treated with GH with the height prediction at beginning of treatment. Patients and Method: AH was considered with bone age ≥ 17 in males and ≥15 in females. The height SD according to the NCHS curves at beginning and ending of treatment were used for the comparison. Height prediction (HP) was calculated by Bayley-Pinneau method. Results: AH was reached by 18/47 patients with ISS treated with GH. Initial height -2.1 ± 0.85 SD (133.1 ± 6.8 cm) and HP -1.94 ± 0.86 SD, and were treated since 11.6 ±1.2 years old. After one year of treatment their height was -1.64 ±0.69 SD, and AH was -1.28 + -0.62 SD (163.76 +-7.22 cm). Conclusion: It is suggested that treatment with GH for ISS is effective to increase AH. Although with wide individual variability, a mean increase of 0.67 ± 0.9 SD (+2.67 cm) was obtained in the AH. This is the first report on Adult Height in Chilean patients.

Símdrome de Silver-Russell (hemihipertrofia) y cor triatriatum en un neonato / Silver-Russell syndrome (hemihypertrophy) and cor triatriatum in a newborn

Tanto el síndrome de hemihipertrofia como el cor triatriatum son patologías sumamente infrecuentes. La hemihipertrofia se define como el sobrecrecimiento completo o parcial de uno de los hemicuerpos. El cor triatriatum es una cardiopatía congénita caracterizada por una membrana que divide la aurícula izquierda en dos cámaras; si esta membrana tiene un orificio restrictivo, provoca obstrucción al pasaje sanguíneo desde las venas pulmonares hacia el ventrículo izquierdo, lo que genera hipertensión y edema pulmonar. En este contexto, el ductus arterioso permeable puede actuar como vía de descompresión del circuito pulmonar al permitir el pasaje sanguíneo desde la arteria pulmonar hacia la aorta. Presentamos a un paciente con diagnóstico de síndrome de Silver-Rusell (hemihipertrofia), cor triatriatum y ductus arterioso con flujo invertido. Hasta donde conocemos, esta asociación de patologías infrecuentes y forma de presentación no se han descrito anteriormente.

Hemihypertrophy syndrome and cor triatriatum are extremely rare pathologies. Hemihypertrophy is defined as complete or partial overgrowth of one of the hemibodies. Cor triatriatum is a congenital heart disease characterized by a membrane which separates the left atrium into two chambers; if that membrane has a restrictive hole, it causes obstruction to blood passage from the pulmonary veins into the left ventricle causing hypertension and pulmonary edema. In this context, the patent ductus arteriosus can act as a means of decompression of the pulmonary circuit, because it allows the blood passage from the pulmonary artery to the aorta. We report a patient with Silver-Rusell syndrome (hemihypertrophy), cor triatriatum and ductus arteriosus with reverse flow. To our knowledge, this association of rare pathologies and this clinical presentation have not been described previously.

Variações no número de cópias cromossômicas submicroscópicas como causa de baixa estatura de início pré-natal / Submicroscopic chromosomal copy number variants as a cause of prenatal onset short stature

A pesquisa de variações no número de cópias (CNVs; copy number variants) cromossômicas tem revelado o importante papel destas alterações genômicas na diversidade populacional e na etiologia de doenças humanas. O modelo de associação de CNVs a doenças envolve deleções e/ou duplicações individualmente raras, mas com segmentos cromossômicos de tamanhos relevantes. Os pacientes com baixa estatura de início pré-natal constituem um grupo heterogêneo com quadros clínicos complexos frequentemente resultantes de alterações genéticas, que, desde o período intrauterino, perturbam os mecanismos e vias de desenvolvimento e crescimento fetais. Assim sendo, aventamos a hipótese de que CNVs raras possam estar entre as causas genéticas de baixa estatura de início prénatal. Para tanto, nosso estudo visou avaliar a presença de deleções ou duplicações submicroscópicas em um grupo selecionado de pacientes nascidos pequenos para idade gestacional (PIG) com baixa estatura persistente sem causa definida. Foram avaliados 51 pacientes nascidos PIG com baixa estatura persistente após o 4º ano de vida que apresentavam dismorfismos, atraso de desenvolvimento neuropsicomotor (DNPM) ou deficiência intelectual, porém sem caracterizar síndromes conhecidas e com cariótipo normal. Amostras de DNA dos pacientes foram submetidas à hibridização genômica comparativa por microarray (aCGH; array comparative genomic hybridization) baseada em oligonucleotídeos na plataforma 60K. Os achados foram comparados com CNVs descritas em bancos de dados de controles normais. Foram identificadas 18 CNVs, ausentes em controles saudáveis, em 17 dos 51 pacientes (33%). As alterações foram avaliadas para classificação de sua patogenicidade de acordo com os seguintes critérios: 1) padrão de herança e segregação familiar; 2) sobreposição a coordenadas genômicas de síndromes conhecidas; 3) sobreposição a CNVs patogênicas descritas em banco de dados; 4) e conteúdo gênico. Quatro CNVs, encontradas em 3 pacientes, foram...

Analysis of chromosomic copy number variants (CNVs) have demonstrated the important role of these genomic imbalances in population diversity and human disease. The model of CNV disease association involves deletions and/or duplications that are individually rare but encompass chromosomal segments of relevant size. Prenatal onset short stature patients constitute a complex group characterized by clinical heterogeneity. The causes of prenatal growth impairment frequently involve genetic changes that disturb the mechanisms and the pathways of fetal growth and development. Thus, we hipothesized that rare CNVs might contribute to the genetic etiology of prenatal onset short stature. In order to evaluate this assumption, our study analyzed the presence of submicroscopic deletions and/or duplications in a selected group of patients born small for gestational age with persistent short stature but without a recognized cause. A total of 51 patients with prenatal and postnatal growth retardation associated with dysmorphic features, developmental delay and/or intellectual disability, but without criteria for known syndromes, were selected. All patients had normal G-banded karyotyping. Array-based comparative genomic hybridization (aCGH) in a whole-genome 60K platform was performed using DNA obtained from all patients. Detected CNVs were compared with CNV data from healthy controls individuals, excluding common copy number polymorphisms. In 17 of the 51 patients screened (33%), 18 rare CNVs were identified. The pathogenicity of CNVs was assessed by considering the following criteria: inheritance and familial segregation; overlap with genomic coordinates for a known genomic imbalance syndrome; overlap with CNVs previously identified in other patients with prenatal onset short stature; and gene content. Four distinct CNVs, found in three patients, were classified as pathogenic: 1) del 22q11.21; 2) dup 10q26.2-26.3 and del 10q26.3; and 3) del 4q28.2-q31.21. Five CNVs, found...

XYY syndrome: a 13-year-old boy with tall stature

When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.