Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA / 中华儿科杂志

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.

BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene / 中华预防医学杂志

This study aims to analyze the clinical characteristics and genetic variations of two cases with developmental delay and lactic acidosis in a family, and to explore the relationship between genetic variations and clinical features. A retrospective analysis was conducted on the clinical characteristics of two siblings with developmental delay and lactic acidosis who were treated at the Neonatal Department of Children's Hospital of Chongqing Medical University in May 2019 and December 2021, respectively. Whole-exome sequencing was used to detect genetic variations in the affected children. Homology modeling of the BCS1L protein was performed to analyze the structural and functional changes of the protein. The correlation between genetic variations and clinical phenotypes was analyzed. The results showed that the main clinical features of the two affected children in this family were manifestations of mitochondrial respiratory chain complex Ⅲ deficiency, including prematurity, developmental delay, respiratory failure, lactic acidosis, cholestasis, liver dysfunction, renal tubular lesions, coagulation dysfunction, anemia, hypoglycemia, hypotonia, and early death. Whole-exome sequencing revealed a novel deletion mutation c.486_488delGGA (p.E163del) and a novel missense mutation c.992C>T (p.T331I) in the BCS1L gene. Structural analysis of the homology modeling showed that the compound heterozygous mutation had a significant impact on protein function. In conclusion, the novel mutation site c.992C>T (p.T331I) in the BCS1L gene is a "likely pathogenic" mutation, and the compound heterozygous mutation is closely related to the phenotype of mitochondrial respiratory chain complex Ⅲ deficiency.

Nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease / 中国当代儿科杂志

OBJECTIVES@#To investigate the nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease (IBD).@*METHODS@#A retrospective analysis was conducted on the clinical data of children who were diagnosed with IBD for the first time in Hunan Children's Hospital from January 2015 to December 2021. Diagnostic delay was defined as the time from the symptom onset to IBD diagnosis being in the upper quartile (P76-P100) of all IBD children in the study. Multivariate logistic regression analysis was used to explore the risk factors for emaciation and growth retardation.@*RESULTS@#A total of 125 children with newly diagnosed IBD were included, with Crohn's disease being the main type (91.2%). The rates of emaciation and growth retardation were 42.4% (53 cases) and 7.2% (9 cases), respectively, and the rate of anemia was 77.6% (97 cases). Diagnostic delay was noted in 31 children (24.8%), with the time from the symptom onset to IBD diagnosis of 366 to 7 211 days. Multivariate logistic regression analysis showed that diagnostic delay was a risk factor for emaciation and growth retardation (OR=2.73 and OR=4.42, respectively; P<0.05) and that age was positively associated with emaciation (OR=1.30, P<0.05).@*CONCLUSIONS@#Children with newly diagnosed IBD have poor nutritional status, and the rates of anemia, emaciation, and growth retardation are high. Diagnostic delay is associated with malnutrition in children with IBD.

Analysis of clinical phenotypes and genetic variants in two children with sporadic cleidocranial dysplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotypes and genetic diagnosis of 2 sporadic cases for cleidocranial dysplasia.@*METHODS@#The clinical data of two cases of CCD admitted to the Third Affiliated Hospital of Zhengzhou University on December 16, 2021 and December 9, 2021 were analyzed retrospectively, and the whole exome sequencing (WES), chromosome microarray analysis and copy number variation sequencing were performed.@*RESULTS@#The main ultrasonographic findings of the fetus had included poorly calcified skull bones, budging of parieto-occipital area, compression and deformation of skull, and loss of nasal bone. The infant's clinical phenotypes included delayed closure of anterior fontanelle, recurrent respiratory tract infection, growth retardation, and clavicular hypoplasia. By WES analysis, the fetus was found to harbor a heterozygous c.911_914delinsTTT variant of the RUNX2 gene, whilst the infant was found to harbor a heterozygous c.1008delT variant of the RUNX2 gene. Both variants were verified by Sanger sequencing to have occurred de novo.@*CONCLUSION@#For sporadic cases featuring cleidocranial dysplasia, prenatal ultrasonography is particularly important. Hypoplastic clavicle, skull calcification and nasal bone absence are the main features. Diagnosis should also be suspected for infants featuring growth retardation, recurrent respiratory tract infections and clavicular dysplasia. The identification of the c.911_914delinsTTT and c.1008delT variants of the RUNX2 gene has facilitated genetic counseling and prenatal diagnosis, and also expanded the mutational spectrum of the RUNX2 gene.

A quasi -experimental study on the effects of a breastfeeding reminder system on breastfeeding in two tertiary medical centers / The Health Sciences Journal

INTRODUCTION@#In the face of unchanging high rates of stunting among 12-23 months old Filipino babies, sustaining exclusive breastfeeding up to 6 months old remains a challenge. This study determined the effect of a breastfeeding reminder system on breastfeeding.@*METHODS@#This is a quasi-experimental study. Mothers were regularly given breastfeeding reminders by SMS and phone call. The weight, body length, episodes of upper respiratory tract infection and diarrhea were compared between the babies who were given exclusive breastfeeding and those whose exclusive breastfeeding was not sustained. Pearson Chi – square test and t-test at p=0.05 determined significance of differences of variables.@*RESULTS@#From March- October 2020, there were 450 babies included in the study. Of these babies, 44.8% were given exclusive breastfeeding up to 6 months. Timely initiation of breastfeeding was practiced by 91.95% of the mothers in the study. Babies who did not receive exclusive breastfeeding were shorter than those who received exclusive breastfeeding at 1 year old (70.11cm +2.78 vs.75.47cm +1.41, p<0.001) and at 2 years old (80.89 cm +2.30 vs. 87.29cm +1.47, p<0.001). At 2 years old, babies who received exclusive breastfeeding had no episodes of diarrhea and minimal (2%, p<0.001) episodes of acute respiratory infections.@*CONCLUSION@#Due to the implementation of the reminder system, the percentage of babies exclusively breastfed up to 6 months of age increased to 44%. This is a significant improvement compared to a previous study where only 29% of the babies were exclusively breastfed.At one and two years old, babies who were not exclusively breastfed had stunting, weighed less and had more infections (diarrhea and URTI).

Prevalence and determinants of stunting among preschool and school-going children in the flood-affected areas of Pakistan / Prevalência e determinantes da baixa estatura entre crianças em idade pré-escolar e em idade escolar nas áreas afetadas pelas enchentes do Paquistão

Stunting is a significant public health problem in low- and middle-income countries. This study assessed the prevalence of stunting and associated risk factors of stunting among preschool and school-going children in flood-affected areas of Pakistan. A cross-sectional study was conducted by visiting 656 households through multi-stage sampling. Respondent's anthropometric measurements, socio-demographic information and sanitation facilities were explored. A logistic regression model was used to determine determinants of stunting, controlling for all possible confounders. The overall prevalence of stunting in children was 40.5%, among children 36.1% boys and 46.3% of girls were stunted. The prevalence of stunting in under-five children was 50.7%. Female children (OR=1.35, 95% CI:0.94-2.0), children aged 13-24 months (OR=6.5, 95% CI: 3.0-13.9), mothers aged 15-24 years (OR=4.4, 95% CI: 2.6-7.2), joint family (OR=2.1, 95% CI: 1.4-3.0) did not have access to improved drinking water (OR=3.3, 95% CI: 1.9-5.9), and the toilet facility (OR=2.8, 95% CI, 1.9-4.3), while the children from district Nowshera (OR=1.7, 95% CI: 0.9-3.2) were significantly (P<0.05) associated in univariate analysis. The regression model revealed that child age, maternal age, family type, quality of water, and toilet facility, were the significant (P<0.05) factors contributing to child stunting in the flood-hit areas. Identification of key factors might be helpful for policymakers in designing comprehensive community-based programs for the reduction of stunting in flood-affected areas. In disasters such as flood, the detrimental consequences of the stunting problem could be even more on children. Evidence-based education and care must be provided to the families in the flood-affected regions to reduce the stunting problem. The determinants of stunting should be targeted by making comprehensive policies regarding proper nutrition, livelihood, clean water, and sanitation facilities in flood-hit regions.

A baixa estatura é um problema significativo de saúde pública em países de baixa e média renda. Este estudo avaliou a prevalência de nanismo e os fatores de risco associados de nanismo entre crianças em idade pré-escolar e em idade escolar em áreas afetadas por inundações do Paquistão. Foi realizado um estudo transversal visitando 656 domicílios por meio de amostragem em múltiplos estágios. As medidas antropométricas do entrevistado, informações sociodemográficas e instalações de saneamento foram exploradas. Um modelo de regressão logística foi usado para determinar os determinantes do nanismo, controlando todos os possíveis fatores de confusão. A prevalência geral de baixa estatura em crianças foi de 40,5%, entre as crianças 36,1% dos meninos e 46,3% das meninas com baixa estatura. A prevalência de baixa estatura em crianças menores de 5 anos foi de 50,7%. Crianças do sexo feminino (OR = 1,35, IC de 95%: 0,94-2,0), crianças de 13-24 meses (OR = 6,5, IC de 95%: 3,0-13,9), mães de 15-24 anos (OR = 4,4, IC de 95%: 2,6-7,2), família conjunta (OR = 2,1, IC 95%: 1,4-3,0) não tiveram acesso a água potável de qualidade (OR = 3,3, IC 95%: 1,9-5,9) e a banheiro (OR = 2,8, IC de 95%, 1,9-4,3), enquanto as crianças do distrito de Nowshera (OR = 1,7, IC de 95%: 0,9-3,2) foram significativamente (P < 0,05) associadas na análise univariada. O modelo de regressão revelou que a idade da criança, idade materna, tipo de família, qualidade da água e banheiro foram os fatores significativos (P < 0,05) que contribuíram para a baixa estatura infantil nas áreas afetadas pelas enchentes. A identificação de fatores-chave pode ser útil para os formuladores de políticas no planejamento de programas comunitários abrangentes para a redução da baixa estatura em áreas afetadas pelas enchentes. Em desastres como enchentes, as consequências prejudiciais do problema de baixa estatura podem ser ainda maiores para as crianças. Educação baseada em evidências e cuidados deve ser fornecida às famílias nas regiões afetadas pelas enchentes para reduzir o problema de nanismo. Os determinantes do retardo de crescimento devem ser almejados pela formulação de políticas abrangentes sobre nutrição adequada, meios de subsistência, água potável e instalações de saneamento nas regiões afetadas pelas enchentes.

Eficácia e segurança de Somatropina para o tratamento de crianças nascidas pequenas para a idade gestacional: revisão rápida de evidências / Efficacy and safety of Somatropine for the treatment of children born small for gestational age: a rapid response review of evidence

Tecnologia: Somatropina. Indicação: Transtorno de crescimento em crianças nascidas pequenas para a idade gestacional (PIG). Pergunta: A somatropina é eficaz e segura para promover aumento da curva de crescimento em crianças nascidas PIG? Métodos: Levantamento bibliográfico foi realizado na base de dados PUBMED, seguindo estratégias de buscas predefinidas. Foi feita avaliação da qualidade metodológica das revisões sistemáticas com a ferramenta AMSTAR-2 (A MeaSurement Tool to Assess systematic Reviews version 2). Resultados: Foi selecionada uma revisão sistemática que atendeu aos critérios de inclusão. Conclusão: evidências de moderada certeza indicam que somatropina é eficaz e segura para tratamento de crianças nascidas PIG, pois promove recuperação do crescimento e não há relatos de eventos adversos graves na literatura científica

Technology: Somatropin. Indication: Growth disorder in children born small for gestational age (SGA). Question: Is somatropin effective, safe and cost effective for promoting height gain in children born SGA? Methods: A bibliographic search was done in PUBMED database, following predefined search strategies. The methodological quality of systematic reviews was evaluated using the AMSTAR-2 tool (A MeaSurement Tool to Assess systematic Reviews version 2). Results: Only a systematic review met the inclusion criteria and was selected. Conclusion: Evidence of moderate certainty indicates that somatropin is effective and safe for the treatment of children born SGA, because the treatment improve the growth and there are no reports of serious adverse events in the scientific literature

Fatores associados ao estado nutricional de crianças menores de cinco anos da Paraíba, Brasil / Factors associated with nutritional status of children under five years old from Paraíba, Brazil

Resumo Objetivou-se analisar se o estado nutricional de crianças menores de cinco anos de idade está relacionado às condições biológicas de suas mães, ao acesso a serviços de saúde, ao benefício de programas sociais e às condições socioeconômicas. Trata-se de um estudo transversal realizado no contexto da Estratégia Saúde da Família, em sete municípios do interior do estado da Paraíba. A metodologia incluiu o diagnóstico do déficit de estatura e do excesso de peso (sobrepeso e obesidade) das crianças, cujos determinantes foram analisados por meio de árvore de decisão. Como resultado, foram avaliadas 469 crianças, das quais 7,9% apresentaram déficit de estatura e 12,8% excesso de peso. Encontrou-se associação desses desfechos com o estado nutricional materno. A baixa estatura também teve como exposições relevantes a idade da criança inferior a dois anos (p = 0,018) e a insegurança alimentar e nutricional moderada/grave (p = 0,008). Para o excesso de peso, não ser beneficiário do Programa Bolsa Família (p = 0,049) e a pior situação socioeconômica (p = 0,006) também representaram fatores associados ao desfecho. Como conclusão do presente estudo, podemos afirmar que existe uma associação entre o estado nutricional materno e o da criança.

Abstract This paper aimed to analyze whether the nutritional status of children under 5 years of age is related to the biological conditions of their mothers, access to health services, the benefit of social programs, and socioeconomic conditions. This is a cross-sectional study carried out in the context of the Family Health Strategy in seven municipalities in inland Paraíba State. The methodology included the diagnosis of stunting and excess weight (overweight and obesity) in children, which determinants were analyzed through the Decision Tree. As a result, 469 children were evaluated, of which 7.9% had stunting and 12.8% had excess weight. An association of these outcomes was found with maternal nutritional status. Also, the relevant exposures of stunting were the age of the child of less than 2 years (p = 0.018) and the moderate/severe food and nutritional insecurity (p = 0.008). For excess weight, not being a beneficiary of the Programa Bolsa Família (p = 0.049) and the worst socioeconomic situation (p = 0.006) were also factors associated with the outcome. As a conclusion of the present study, we can affirm that there is an association between the maternal and child nutritional status.

Prevalence and predictor stunting, wasting and underweight in Timor Leste children under five years: An analysis of DHS data in 2016

Stunting, wasting, and being underweight are indicators of malnutrition in a country. The high status reflects the poor nutritional and health status of children under five. We analyzed data from the Demographic and Health Survey conducted in Timor Leste from 2009 to 2016 to identify the prevalence and predictor stunting, wasting, and underweight. The variables analyzed were the mother's education, mother's age, mother BMI, mother's height, number of ANC visits, birth weight, sex of a child, sex of head household, type of residence, wealth index, toilet facility, source of drinking water and province. The sample in this study was 3,723 toddlers. Prevalence of stunting (44.4%), underweight (37.5%) and wasting (25.3%). In the bivariate analysis, the variables statistically significantly associated with stunting, underweight, and wasting was mother's education, sex of a child, type of residence, wealth index, and province. Improving the nutritional status of children in Timor Leste requires various nutrition and health interventions

Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome / 中华儿科杂志

Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.

Growth retardation of children and its influencing factors in the Nutrition Improvement Program for Rural Compulsory Education Students in 2019 / 中华流行病学杂志

Objective: To understand the growth retardation among primary and secondary school students in areas covered by the Nutrition Improvement Program for Rural Compulsory Education Students and its influencing factors to provide evidence for improving the nutrition status of rural students in China. Methods: The multi-stage cluster random sampling method selected 1 550 969 primary and secondary school students aged 6-15 years from China's central and western regions. The ratio of male and female students was balanced. The height was measured, and the growth retardation of students was determined according to the Screening Criteria for School-age Children and Adolescents malnutrition (WS/T 456-2014), from the school and county questionnaire survey related factors. The number of cases and percentages described the growth retardation of students, and the χ2 test was used for comparison between groups. Binary logistic regression was used to analyze students' growth retardation factors. Results: In 2019, the growth retardation rate of primary and secondary school students in areas covered by the Nutrition Improvement Program for Rural Compulsory Education Students was 5.7% (88 631/1 550 969), the growth retardation rate in the western part (7.1%, 66 167/927 954) was higher than that in the central part (3.7%,19 511/533 973) with difference statistically significant (P<0.001). The growth retardation rate of the boys (6.3%,50 665/803 851) were higher than that of girls (5.1%, 37 966/747 118), the difference was statistically significant (P<0.001). The growth retardation rate of primary school students in central China was 3.9%(14 914/380 598), higher than that of junior middle school students (3.0%,4 597/153 375, P<0.001). In contrast, the growth retardation rate of the western junior high school students (7.2%, 21 494/297 217) were higher than that of elementary school students (7.1%, 44 673/630 737), with a difference statistically significant (all P=0.009). Multi-factor logistic regression results showed that, in high income area (OR=0.829, 95%CI: 0.816-0.842, P<0.001), parents providing part of the meal cost (OR=0.948, 95%CI: 0.931-0.965, P<0.001), enterprises providing meals (OR=0.845, 95%CI: 0.805-0.887, P<0.001), schools providing milk (OR=0.780, 95%CI: 0.767-0.793, P<0.001), health education courses (OR=0.702, 95%CI: 0.682-0.723, P<0.001) and other local nutrition improvement efforts (OR=0.739, 95%CI: 0.720-0.758, P<0.001) were negatively correlated with the occurrence of growth retardation, The growth retardation rate of the students was lower. Conclusions: There appeared significant regional, gender, and age differences in the growth retardation rate of primary and middle school students in areas covered by the Nutrition Improvement Program for Rural Compulsory Education Students. Appropriate food supply in schools, health education courses, and parental participation in nutritional improvement was related to children's lower growth retardation rate.

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.

Estado nutricional e fatores associados ao déficit estatural em crianças menores de cinco anos de comunidades remanescentes de quilombos do Nordeste brasileiro / Nutritional status and factors associated with stunting in children under five years of age in maroon communities in Northeast Brazil / Estado nutricional y factores asociados al déficit de estatura en niños menores de cinco años originarios de comunidades reminiscentes de quilombos en el Nordeste Brasileño

Resumo: Os quilombolas constituem parte das minorias étnico-raciais do país que apresentam iniquidades em saúde, reflexo de um processo histórico de grandes desvantagens socioeconômicas. O objetivo foi avaliar o estado nutricional e fatores associados ao déficit estatural em crianças quilombolas menores de cinco anos residentes em comunidades quilombolas tituladas na Região Nordeste do Brasil. Utilizaram-se dados secundários provenientes da Pesquisa de Avaliação da Situação de Segurança Alimentar e Nutricional em Comunidades Quilombolas Tituladas (2011). Os desfechos de interesse foram o déficit estatural (estatura-para-idade < -2z), excesso de peso (peso-para-estatura > 2z) e o déficit ponderal (peso-para-idade < -2z). Foi empregado o teste qui-quadrado para avaliar a significância das diferenças entre as prevalências. A análise multivariada considerou um modelo conceitual hierárquico sobre o déficit estatural. As prevalências de excesso de peso e déficit ponderal foram 2,8% e 6,1%, respectivamente. O déficit estatural foi diagnosticado em 14,1% da amostra. O modelo hierárquico de déficit estatural evidenciou maiores prevalências do agravo entre crianças que não tinham acesso à atenção básica (RP = 1,63; IC95%: 1,11; 2,41), à água tratada (RP = 2,09; IC95%: 1,42; 3,08) e que nasceram com baixo peso (RP = 2,19; IC95%: 1,33; 3,61). A elevada prevalência de déficit estatural mostra que a população quilombola no Nordeste apresenta condições de saúde desfavoráveis, sendo reflexo da falta de acesso à atenção básica e das precárias condições de saneamento.

Abstract: Quilombolas, or members of maroon communities in Brazil, are part of the country's ethnic/racial minorities exposed to health inequities, reflecting a historical process of harsh socioeconomic disadvantages. The study aimed to assess nutritional status and factors associated with stunting in quilombola children under five years of age living in land-deeded quilombola communities in Northeast Brazil. The study used secondary data from the Survey on Food and Nutritional Security in Land-Deeded Quilombola Communities (2011). The target outcomes were stunting (height-for-age < -2z), excess weight (weight-for-height > 2z), and underweight (weight-for-age < -2z). Chi-square test was used to assess the significance of differences between prevalence rates. Multivariate analysis used a hierarchical conceptual model on stunting. Prevalence rates for excess weight and underweight were 2.8% and 6,1%, respectively. Stunting was diagnosed in 14.1% of the sample. The hierarchical model for stunting evidenced higher prevalence rates among children without access to primary healthcare (PR = 1.63; 95%CI: 1.11; 2.41) and safe water (PR = 2.09; 95%CI: 1.42; 3.08) and those with a history of low birthweight (PR = 2.19; 95%CI: 1.33; 3.61). The high prevalence of stunting showed that the quilombola' population in the Northeast experiences unfavorable health condition, reflecting lack of access to primary healthcare and precarious sanitation.

Resumen: Los quilombolas constituyen parte de las minorías étnico-raciales del país que presentan inequidades en salud, reflejo de un proceso histórico que implicó grandes desigualdades socioeconómicas. El objetivo del trabajo fue evaluar el estado nutricional y los factores asociados con el déficit de estatura en niños quilombolas, menores de 5 años, residentes en comunidades quilombolas, ubicadas en la Región Nordeste del Brasil. Se utilizaron datos secundarios provenientes de la Pesquisa de Avaliação da Situação de Segurança Alimentar e Nutricional em Comunidades Quilombolas Tituladas (2011). Los resultados de interés fueron: déficit de estatura (estatura-para-edad < -2z), exceso de peso (peso-para-estatura > 2z) y insuficiencia ponderal (peso-para-edad < -2z). Se empleó la prueba chi-cuadrado para evaluar la significancia de las diferencias entre las prevalencias. El análisis multivariado consideró un modelo conceptual jerárquico sobre la insuficiencia de estatura. Las prevalencias de exceso de peso y déficit ponderal fueron 2,8%, 6,1%, respectivamente. El déficit de estatura fue diagnosticado en un 14,1% de la muestra. El modelo jerárquico de déficit de estatura evidenció mayores prevalencias de enfermedades entre niños que no tenían acceso a la atención básica (RP = 1,63; IC95%: 1,11; 2,41), al agua tratada (RP = 2,09; IC95%: 1,42; 3,08) y que nacieron con bajo peso (RP = 2,19; IC95%: 1,33; 3,61). La elevada prevalencia de déficit de estatura muestra que la población quilombola en el Nordeste presenta condiciones de salud desfavorables, siendo reflejo de la falta de acceso a la atención básica en salud y de las precarias condiciones de saneamiento.

Mala nutrición a nivel municipal en población preescolar mexicana y cobertura del Programa Nacional México Sin Hambre / Municipal malnutrition in Mexican preschool children population and coverage of the Programa Nacional México Sin Hambre

Resumen: Objetivo: Estimar las prevalencias municipales de mala nutrición en población preescolar en México, y describir su variabilidad y su relación con la cobertura del Programa Nacional México Sin Hambre. Material y métodos: A partir de datos de la Encuesta Nacional de Salud y Nutrición de 2012, la desigualdad del ingreso y marginación municipal se aplicó un modelo normal generalizado para obtener las distribuciones municipales de los indicadores de nutrición y estimar las prevalencias de mala nutrición. Resultados: Las prevalencias de talla baja variaron de 7.8% (IC95%: 5.9-8.9) a 64.2% (49.2-72.5), las de bajo peso de 0.6% (0.005-1.7) a 22.2% (13.5-34.9) y de sobrepeso u obesidad de 2.6% (0.2-3.9) a 14.4% (11.9-27.7). De los 554 municipios con prevalencias de talla baja mayor que 25%, 275 fueron cubiertos por el programa México Sin Hambre. Conclusiones: La estimación de prevalencias municipales de mala nutrición evidenció grandes diferencias al interior del país, mismas que podrían asistir la política pública.

Abstract: Objective: To estimate malnutrition prevalence of preschool children at the level of municipality in Mexico, describe prevalence heterogeneity and its relationship with the Programa Nacional México Sin Hambre´s coverage. Materials and methods: Using the 2012 Mexican National Survey of Health and Nutrition, municipal income inequality and marginality, we applied a generalized normal model to obtain municipal distributions of nutrition status indicators from which we estimated malnutrition prevalence. Results: Stunting prevalence ranged from 7.8% (95%CI: 5.9-8.9) to 64.2% (49.2-72.5), low weight prevalence ranged from 0.6% (0.005-1.7) to 22.2% (13.5-34.9) and overweight-obesity prevalence ranged from 2.6% (0.2-3.9) to 14.4% (11.9-27.7). A total of 275 out of 554 municipalities with stunting prevalence above 25% were covered by the Programa Nacional México Sin Hambre. Conclusions: Municipal malnutrition prevalence estimation showed wide differences within Mexico; this knowledge could assist public policy.

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome / Características clínicas e análise genética e de cofatores de dobramento da tubulinaem pacientes iranianos com síndrome de Sanjad-Sakati

Abstract Objective Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad-Sakati syndrome (also known as hypoparathyroidism—intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad-Sakati syndrome and to identify for the first time the genetic variations on Iranian patients with the same ethnic origin. Methods In this study, 29 cases from 23 unrelated Arab kindreds with permanent hypoparathyroidism and dysmorphism indicating Sanjad-Sakati syndrome were enrolled for 10 years in the southwest of Iran. The mutational analysis by direct sequencing of the tubulin folding cofactor E gene was performed for the patients and their families, as well as their fetuses using genomic DNA. Results Twenty-eight out of 29 cases had parental consanguinity. Twenty-seven cases presented with hypocalcemia seizure and two were referred because of poor weight gain and were found to have asymptomatic hypocalcemia. The dysmorphic features, hypocalcemia in the setting of low to normal parathyroid hormone levels and high phosphorus led to the diagnosis of these cases. Sequencing analysis of the tubulin folding cofactor E gene revealed a homozygous 12-bp deletion (c.155-166del) for all patients. Following that, prenatal diagnosis was performed for eight families, and two fetuses with a homozygous 12-bp deletion were identified. Conclusion These results make it much easier and faster to diagnose this syndrome from other similar dysmorphisms and also help to detect carriers, as well as prenatal diagnosis of Sanjad-Sakati syndrome in high-risk families in this population.

Resumo Objetivo O hipoparatireoidismo permanente pode estar presente como parte das doenças genéticas como na síndrome de Sanjad-Sakati (também chamada de síndrome de hipoparatireoidismo, retardo e dismorfismo), que é um distúrbio autossômico recessivo raro. Nosso objetivo foi confirmar o diagnóstico de um grupo de pacientes com dismorfismo, crescimento deficiente e hipoparatireoidismo clinicamente identificado como síndrome de Sanjad-Sakati e identificar as variações genéticas, pela primeira vez, em pacientes iranianos com a mesma origem étnica. Métodos Neste estudo, foram inscritos 29 casos de 23 famílias árabes sem parentesco com hipoparatireoidismo e dismorfismo indicando síndrome de Sanjad-Sakati, durante 10 anos no sudoeste do Irã. Foi feita a análise mutacional por sequenciamento direto do gene do cofator E de dobramento da tubulina dos pacientes e de suas famílias e também de seus fetos com o DNA genômico. Resultados Apresentaram consanguinidade parental 28 dos 29 casos. Desses, 27 casos apresentaram convulsão por hipocalcemia e dois foram encaminhados devido ao baixo ganho de peso, considerando diagnóstico de hipocalcemia assintomática. As características dismórficas, hipocalcemia na configuração de níveis de hormônio da paratireoide baixos a normais e alto nível de fósforo levaram ao diagnóstico dos casos. A análise de sequenciamento do gene do cofator E de dobramento da tubulina revelou deleção homozigótica de 12 pares de base (pb) (c.155-166del) em todos os pacientes. Após isso, foi feito o diagnóstico pré-natal em oito famílias e dois fetos foram identificados com deleção homozigótica de 12 pb. Conclusão Esses resultados tornam o diagnóstico dessa síndrome muito mais fácil e rápido do que outros dismorfismos semelhantes e também ajudam a detectar portadores, bem como o diagnóstico pré-natal da síndrome de Sanjad-Sakati em famílias de alto risco nessa população.

Endocrine and growth disorders in children with haemoglobin-ss

BACKGROUND Suboptimal growth and certain metabolic disorders are commonly presented by children with Sickle Cell Disease (SCD). SCD is an autosomal recessive genetic condition common in regions with intense malaria prevalence. The cycles of de-oxygenation and oxygenation of red blood cells producing repeated sickling and unsickling, leading to red cell damage is a concern. There was need to establish the cause of common triggers for Vaso-Occlusive crises which include dehydration, infections, extreme temperature and emotional stress. Recurrent painful episodes, several physical and biochemical disorders including suboptimal growth, low immunity, anemia and a variety of serious organ system complications that cause life-long disabilities and/or early death in HbSS patients was a challenge. The highest frequencies (3 to 4% of populations) of Homozygous Sickle Cell disease occur in Sub-Saharan Africa. METHODOLOGY Twenty eight children aged 4-10 years with Hemoglobin-SS (HbSS) and Vaso-Occlusive crisis attending Children Emergency Clinic at Ladoke Akintola University of Technology Teaching Hospital and another 30 healthy sex and age matched children with HbAA (controls) participated in this study. Plasma levels of Growth Hormone(GH), cortisol, prolactin, Total Thyroxin(TT4), Total Triiodotyronine(TT3), Thyroid Stimulating Hormone(TSH) and insulin were determined in all respondents using enzyme linked immunosorbent assay methods. RESULTS The weight, height and BMI decreased significantly (p<0.05) in HbSS children compared with the controls. Plasma levels of GH, cortisol, TT3 and TT4 increased significantly (p<0.05) in HbSS-children compared with controls. Plasma levels of prolactin, TSH and insulin did not show significant (p>0.05) changes in the HbSS children compared with the controls. There was a significant (r=0.46, p=0.04) positive correlation between cortisol and GH in the children with HbSS. A negative correlation (r=-0.45, p=0.045) existed between TT4 and weight of HbSSchildren. CONCLUSION The lower levels of height, weight and BMI despite increased plasma level of GH could suggest peripheral tissue resistance and/or GH-receptor deficiency in HbSS children. Elevated cortisol levels and the positive correlation between cortisol and GH could suggest a link between metabolic stress and GH secretion in HbSS Children

Risk factors for extrauterine growth retardation in very low birth weight infants: a multicenter study / 中华儿科杂志

To investigate the incidence and risk factors of extrauterine growth retardation (EUGR) in very low birth weight infants (VLBWI). This prospective, multicenter observational cohort study was conducted based on Shandong Neonatal Network (SNN). The clinical data of the VLBWI (=1 051), who were admitted to 27 neonatal intensive care units from January 1, 2018 to December 31, 2018, were collected and analyzed. According to the weight at discharge or 36 weeks of postmenstrual age, all the enrolled VLBWI were assigned into EUGR group and non-EUGR group. Univariate and multivariate logistic regression analyses were used to detect the risk factors for EUGR in preterm small for gestational age (SGA) and non-SGA infants. A total of 1 051 VLBWI were enrolled, with 51.7% (543/1 051) male. The incidence of EUGR in the whole group was 60.7% (638/1 051), and were 78.3% (90/115) and 46.9% (53/113) in extremely low birth weight infant (ELBWI) and extremely preterm infants (EPI), respectively. The incidence of EUGR in SGA and non-SGA infants were 87.6% (190/217) and 53.7% (448/834), respectively. Logistic regression analysis showed that, withholding feeds (1.531, 1.237, 95: 1.180-1.987, 1.132-1.353, both <0.01) and time to achieve full enteral feeding (1.090, 1.023, 95: 1.017-1.167, 1.002-1.045, 0.014, 0.034) were independent risk factors of EUGR in both SGA and non-SGA infants. For SGA infants, cesarean delivery was an independent risk factor for EUGR (8.147, 95: 2.127-31.212, 0.002); while for non-SGA infants, hypertensive disorders during pregnancy (2.572, 95: 1.496-4.421, 0.001) and the duration of invasive ventilation (1.050, 95: 1.009 - 1.092, 0.016) were independent risk factors of EUGR. Besides, moderate and severe bronchopulmonary dysplasia (2.241, 95: 1.173-4.281, 0.015), necrotizing enterocolitis (5.633, 95: 1.333-23.796, 0.019) and retinopathy of prematurity (2.219, 95: 1.268-3.885, 0.005) were associated with EUGR. The incidence of weight-defined EUGR is high in VLBWI, especially in preterm SGA infants. Avoiding delaying feeds after birth and achieving full enteral feeding early may reduce the incidence of EUGR.