Peso al nacer en el noroeste argentino. Comparación con una referencia nacional y un estándar internacional / Birth weight in the Northwest region of Argentina. Comparison with a national reference and an international standard

Introducción. El tamaño al nacer se encuentra sujeto a influencias genéticas y ambientales; la altura geográfica es muy influyente. El peso al nacer (PN) es el indicador más utilizado para evaluarlo; existen diferentes estándares y referencias. Debido a la variabilidad de la distribución del PN en relación con la altura en la provincia de Jujuy (Argentina), este trabajo analiza la distribución percentilar del PN para tierras altas (TA) y tierras bajas (TB) jujeñas según edad gestacional (EG) y sexo, y su comparación con una referencia nacional y el estándar internacional INTERGROWTH-21st (IG-21). Población y métodos. Se analizaron los registros de 78 524 nacidos vivos en Jujuy en el período 20092014. Utilizando el método LMS, se estimaron los percentiles 3, 10, 50, 90 y 97 de PN/EG por sexo, para TA (≥2000 msnm), TB (<2000 msnm) y el total provincial, y se compararon gráficamente con la referencia poblacional argentina de Urquía y el estándar IG-21. La significación estadística se determinó mediante la prueba de Wilcoxon. Resultados. El PN en Jujuy presentó distribución heterogénea, con diferencias estadísticamente significativas (p <0,05) entre TB y TA. Al comparar con la referencia nacional y el estándar IG-21, se observaron diferencias por altitud, principalmente en los percentiles 90 y 97 para ambas regiones, y en los percentiles 3 y 10 en TA comparados con el estándar. Conclusiones. Se observó variabilidad de la distribución del PN asociada a la altura geográfica, por lo que, para evaluar el crecimiento intrauterino, resulta fundamental incluir la EG y el contexto donde transcurre la gestación.

Introduction. Size at birth is subject to genetic and environmental influences; altitude is highly influential. Birth weight (BW) is the most widely used indicator to assess size at birth; different standards and references are available. Due to the variability in BW distribution in relation to altitude in the province of Jujuy (Argentina), the purpose of this study is to analyze the percentile distribution of BW in the highlands (HL) and the lowlands (LL) of Jujuy based on gestational age (GA) and sex and compare it with a national reference and the INTERGROWTH-21 st (IG-21) international standard. Population and methods. The records of 78 524 live births in Jujuy in the 2009­2014 period were analyzed. Using the LMS method, the 3 rd, 10 th, 50 th, 90 th, and 97 th percentiles of BW/GA by sex were estimated for the HL (≥ 2000 MASL), the LL (< 2000 MASL), and the total for Jujuy, and compared with the Argentine population reference by Urquía and the IG-21 standard using growth charts. The statistical significance was established using the Wilcoxon test. Results. BW in Jujuy showed a heterogeneous distribution, with statistically significant differences (p < 0.05) between the LL and the HL. When compared with the national reference and the IG-21 standard, differences in terms of altitude were observed, mainly in the 90 th and 97 th percentiles for both regions and the 3 rd and 10 th percentiles in the HL compared with the international standard. Conclusions. BW distribution varied in association with altitude; therefore, to assess intrauterine growth, it is critical to include GA and the environment in which the pregnancy takes place.

Nutritional status of schoolchildren before and after confinement by COVID-19 (2019-2021) in Jujuy, Argentina.

An increase in the prevalence of obesity due to lockdown and confinement linked to COVID-19 is observed. Variations in the nutritional status of schoolchildren from Jujuy are analyzed in relation to confinement due to COVID-19 (2019-2021) and its relationship with socio-demographic variables and the school environment. This is an observational, descriptive study. Data from 56,695 schoolchildren aged 6-18 years old is analyzed based on two temporary cuts (2019 pre-confinement and 2021 post-confinement). The nutritional status of schoolchildren (underweight, overweight, and obese) was established using the IOTF (International Obesity Task Force) criterion. The prevalence of each nutritional phenotype was estimated by sex and age group, considering the following independent variables: setting (rural/urban), school management system (public/private), geographic altitude, and percentage of households with unmet basic needs (UBN) in the place where they attend school. Multiple proportions contrast was performed using Fisher's test, a transition matrix ws produced and a statistical model of proportional odds was fitted. It was observed that between 2019 and 2021, the prevalence of underweight decreased and the prevalence of overweight and obesity increased significantly. In 2021, 67% of schoolchildren maintained the same nutritional category that they had in 2019, 21% gained weight and 12% lost weight. The model explains about 52% of the total variability observed. The factors that are significantly correlated in the model are school cycle, age, geographic altitude, school setting, and % of households with UBN. The results indicate that during the COVID-19 pandemic, there was a shift to the right in the distribution of the nutritional status categories of the schoolchildren population in Jujuy, with a decrease in the prevalence of underweight and an increase in the prevalence of overweight and obesity with variations related to age, school location, geographic altitude, and socioeconomic characteristics of the households in the place where the children attended school.

Volga German surnames and Alzheimer's disease in Argentina: an epidemiological perspective.

The N141I variant (PSEN1 gene) is associated with familial forms of early-onset Alzheimer's disease (AD) in descendants of Volga Germans, whose migration to Argentina is well documented. As a proxy for geographic origin, surnames can be a valuable tool in population studies. The 2015 Argentine Electoral Registry provided geographic data for 30,530,194 individuals, including 326,922 with Volga German surnames. Between 2005 and 2017, the Ministry of Health recorded 4,115,216 deaths, of which 17,226 were attributed to AD and related causes. The study used both diachronic and synchronic data to identify patterns of territorial distribution and co-spatiality, using Moran's I and generalised linear model statistics. The frequency of surnames of Volga German origin accounts for 43.53% of the variation in deaths from AD and three clusters of high non-random frequency were found. Almost 150 years later, people descending from the Volga migration remain highly concentrated and may have a different risk of developing AD. The identification of spatial patterns provides reliable guidance for medical research and highlights the importance of specific health policies for particular populations.

Apolipoprotein E Polymorphisms in Andean Population of Jujuy, Argentina.

The pleiotropic nature of the apolipoprotein E (APOE) gene is associated with complex diseases in different populations. We analyzed APOE polymorphisms in 76 individuals from Jujuy - Argentina using NGS technology. The observed genotypes align with the expected Hardy-Weinberg equilibrium. APOE3 was the most common allele, followed by APOE4 and APOE2. The allele distribution pattern is consistent with findings in previously studied populations of Native Americans and Asians. The E4 allele's low frequency, always observed in a heterozygous state, raises questions regarding its relevance in explaining dementia and longevity associated with this marker in the Central Andes.

Birth weight in the Northwest region of Argentina. Comparison with a national reference and an international standard. / Peso al nacer en el noroeste argentino. Comparación conuna referencia nacional y un estándar internacional.

Introduction. Size at birth is subject to genetic and environmental influences; altitude is highly influential. Birth weight (BW) is the most widely used indicator to assess size at birth; different standards and references are available. Due to the variability in BW distribution in relation to altitude in the province of Jujuy (Argentina), the purpose of this study is to analyze the percentile distribution of BW in the highlands (HL) and the lowlands (LL) of Jujuy based on gestational age (GA) and sex and compare it with a national reference and the INTERGROWTH-21st (IG-21) international standard. Population and methods. The records of 78 524 live births in Jujuy in the 2009-2014 period were analyzed. Using the LMS method, the 3rd, 10th, 50th, 90th, and 97th percentiles of BW/GA by sex were estimated for the HL (≥ 2000 MASL), the LL (< 2000 MASL), and the total for Jujuy, and compared with the Argentine population reference by Urquía and the IG-21 standard using growth charts. The statistical significance was established using the Wilcoxon test. Results. BW in Jujuy showed a heterogeneous distribution, with statistically significant differences (p < 0.05) between the LL and the HL. When compared with the national reference and the IG-21 standard, differences in terms of altitude were observed, mainly in the 90th and 97th percentiles for both regions and the 3rd and 10th percentiles in the HL compared with the international standard. Conclusions. BW distribution varied in association with altitude; therefore, to assess intrauterine growth, it is critical to include GA and the environment in which the pregnancy takes place.

Introducción. El tamaño al nacer se encuentra sujeto a influencias genéticas y ambientales; la altura geográfica es muy influyente. El peso al nacer (PN) es el indicador más utilizado para evaluarlo; existen diferentes estándares y referencias. Debido a la variabilidad de la distribución del PN en relación con la altura en la provincia de Jujuy (Argentina), este trabajo analiza la distribución percentilar del PN para tierras altas (TA) y tierras bajas (TB) jujeñas según edad gestacional (EG) y sexo, y su comparación con una referencia nacional y el estándar internacional INTERGROWTH-21st (IG-21). Población y métodos. Se analizaron los registros de 78 524 nacidos vivos en Jujuy en el período 2009-2014. Utilizando el método LMS, se estimaron los percentiles 3, 10, 50, 90 y 97 de PN/EG por sexo, para TA (≥2000 msnm), TB (<2000 msnm) y el total provincial, y se compararon gráficamente con la referencia poblacional argentina de Urquía y el estándar IG-21. La significación estadística se determinó mediante la prueba de Wilcoxon. Resultados. El PN en Jujuy presentó distribución heterogénea, con diferencias estadísticamente significativas (p <0,05) entre TB y TA. Al comparar con la referencia nacional y el estándar IG-21, se observaron diferencias por altitud, principalmente en los percentiles 90 y 97 para ambas regiones, y en los percentiles 3 y 10 en TA comparados con el estándar. Conclusiones. Se observó variabilidad de la distribución del PN asociada a la altura geográfica, por lo que, para evaluar el crecimiento intrauterino, resulta fundamental incluir la EG y el contexto donde transcurre la gestación.

"Prevalence and secular trend of neural tube defects in fetal deaths in Argentina, 1994-2019".

BACKGROUND: Fetal deaths are a major source of information on the epidemiology of neural tube defects (NTDs; anencephaly and myelomeningocele). We analyzed NTDs prevalence and secular trend using fetal death records between 1994 and 2019 in Argentina. MATERIALS AND METHODS: Data were obtained from the Department of Statistics and Information of the Ministry of Health (DEIS). Using the number of fetal deaths due to anencephaly and myelomeningocele, we estimated the proportion of all fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) during pre- and post-fortification period in Argentina. We also estimated the ratio of fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) to 10,000 live births. Secular trend in the outcomes was analyzed using a Poisson model and Joinpoint regression analysis. RESULTS: In the entire period analyzed, the NTD proportion on fetal deaths was 1.32. In 1994, NTDs accounted for 34.7% of congenital malformations fetal deaths (CM) and 1.7% of all fetal deaths, whereas in 2019, these percentages were 9.4% and 0.5%, respectively. NTDs present a negative secular trend (p < .05). The risk of fetal death due to anencephaly and myelomeningocele decreases between 2005 and 2019 by 67% and 51% respectively (p < .05) in comparison to the period between 1994 and 2004 before the effective fortification of wheat flour used in the food industry destined for the domestic market. DISCUSSION AND CONCLUSION: We found a significant decrease in the risk of all fetal deaths due to NTDs, particularly anencephaly, in Argentina over the study period, with most reduction observed during the mandatory flour fortification era (introduced in Argentina in 2002). The inclusion of fetal deaths in NTD surveillance, coupled or uncoupled with other pregnancy outcomes, is essential for monitoring preventive supplementation measures.

Distribución espacial y tendencia secular (1991-2014) de nacidos pequeños para la edad gestacional en Jujuy / Spatial distribution and secular trend (1991­2014) of small for gestational age infants born in Jujuy

Introducción. El feto que no alcanza el potencial de crecimiento esperado en el útero se considera pequeño para la edad gestacional (PEG). Esta restricción depende de factores genéticos y/o ambientales; la altura geográfica es uno muy relevante. Este trabajo analiza la distribución espacial de las prevalencias de PEG y su tendencia secular en Jujuy (1991-2014). Materiales y métodos. Se analizaron los registros de 308 469 nacidos vivos de Jujuy (Dirección de Estadísticas e Información de Salud). Se estimaron prevalencias de PEG (peso/edad gestacional

Introduction. A fetus that does not reach the expected growth potential in utero is considered small for gestational age (SGA). Such restriction depends on genetic and/or environmental factors, being altitude a very relevant factor. This study analyzes the spatial distribution of the prevalence of SGA and its secular trend in Jujuy (1991­2014). Materials and methods. The records of 308 469 live births in Jujuy (Health Statistics and Information Department) were analyzed. The prevalence of SGA (weight/gestational age < P10 and < P3) was estimated for sex according to the INTERGROWTH-21 st standard in the ecoregions of Jujuy (Valle and Ramal ­less than 2000 MASL­, Puna, and Quebrada) across 3 periods (1991­2000, 2001­2009, 2010­2014) and proportions were compared. The secular trend was assessed using the Joinpoint regression analysis. Results. The overall prevalence of SGA was 2.3% (< P3) and 7% (< P10). Significantly higher values were observed in Puna and Quebrada in both SGA categories and across all periods. Only in Valle, significant differences were observed between sexes across all periods. The prevalence of SGA showed a significant downward secular trend at a provincial and regional level, and this was greater in Quebrada (5.2% < P3 and 3.5% < P10). Conclusions. A consistent and significant decrease in the prevalence of SGA has been observed since the 1990s in Jujuy, where altitude is itself a determining factor of size at birth, since the Puna and Quebrada regions showed the highest prevalence of SGA during the entire period.

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.

Somatotype altitudinal variation and its relationship with the nutritional status of children in the Jujuy province, Argentina.

OBJECTIVES: To study the somatotype variations adjusted by altitude, age, sex, and BMI categories, and to assess the health status of the children population. METHODS: A sample of 460 children aged 8-13 years was assessed in a cross-sectional study conducted on anthropometric measurements between 2011 and 2015. Data were categorized into two age groups: Group 8-10, Group 11-13 and two altitudes: Highland (>2000 masl), lowland (<2000 masl). The somatotypic profile was determined by the Heath and Carter's study method and the Body Mass Index was used to assess children nutritional status. Generalized linear latent variable models (GLLVM) were performed to test the association between somatotype and geographic altitude. Individual age-sex specific somatotypes were plotted in a two-dimension somatochart, and group dispersion was displayed by the somatotype attitudinal mean. RESULTS: The sample has an overall endomorph-mesomorph body type, exhibiting different patterns when altitude and sex were considered. The GLLVM showed that the whole somatotype was different by altitude. Highland children occupied central to endomorphic-mesomorphic places in the somatochart with lower variation. In both altitudes, girls exhibited higher endomorphy than boys. Several discrepancies between the BMI categorization and the somatotype were observed. CONCLUSIONS: Jujenean children show differential body patterns across geographic altitude which exhibit age and sex variations. Children have a differential tendency to a fat mass gain. The BMI showed some inconsistencies with somatotype, leading to a misclassification of the child nutritional status, this highlights the importance of not to treat the BMI in isolation but with other determinants of the health status.

OBJETIVOS: Analizar las variaciones del somatotipo ajustadas por altitud, edad, sexo y categorías de IMC y evaluar el estado de salud de la población infantil. MÉTODOS: Se evaluó una muestra de 460 niños de 8 a 13 años en un estudio transversal realizado con mediciones antropométricas entre 2011-2015. Los datos se clasificaron en dos grupos de edad: Grupo8-10, Grupo11-13 y dos altitudes: Tierras Altas (>2000 msnm), Tierras Bajas (<2000 msnm). El perfil somatotípico se determinó mediante el método Heath & Carter y el Índice de Masa Corporal se utilizó para evaluar el estado nutricional de los niños. Se usaron Modelos Lineales Generalizados de Variables Latentes (GLLVM) para probar la asociación entre el somatotipo y la altitud geográfica. Los somatotipos individuales específicos por edad y sexo se graficaron en una somatocarta de dos dimensiones, y la dispersión del grupo se visualizó mediante la Media Somatotípica Actitudinal. RESULTADOS: La muestra presentó un tipo corporal general endomorfo-mesomorfo, que muestra diferentes patrones cuando se consideran la altitud y el sexo. El GLLVM mostró que todo el somatotipo era diferente según la altitud. Los niños de Tierras Altas ocuparon lugares centrales a endomorfo-mesomorfos en la somatocarta y mostraron menor variación. En ambas altitudes, las niñas mostraron mayor endomorfia que los niños. Se observaron varias discrepancias entre la categorización del IMC y el somatotipo. CONCLUSIONES: Los niños jujeños muestran patrones corporales diferenciales en función de la altitud geográfica con variaciones en función de la edad y el sexo. Los niños presentan una tendencia diferencial al aumento de masa grasa. El IMC mostró algunas incoherencias con el somatotipo, lo que condujo a una clasificación errónea del estado nutricional de los niños, lo que subraya la importancia de no tratar el IMC de forma aislada, sino con otros determinantes del estado de salud.

Spatial distribution and secular trend (1991-2014) of small for gestational age infants born in Jujuy. / Distribución espacial y tendencia secular (1991-2014) de nacidos pequeños para la edad gestacional en Jujuy.

Introduction. A fetus that does not reach the expected growth potential in utero is considered small for gestational age (SGA). Such restriction depends on genetic and/or environmental factors, being altitude a very relevant factor. This study analyzes the spatial distribution of the prevalence of SGA and its secular trend in Jujuy (1991-2014). Materials and methods. The records of 308 469 live births in Jujuy (Health Statistics and Information Department) were analyzed. The prevalence of SGA (weight/gestational age < P10 and < P3) was estimated for sex according to the INTERGROWTH-21st standard in the ecoregions of Jujuy (Valle and Ramal -less than 2000 MASL-, Puna, and Quebrada) across 3 periods (1991-2000, 2001-2009, 2010-2014) and proportions were compared. The secular trend was assessed using the Joinpoint regression analysis. Results. The overall prevalence of SGA was 2.3% (< P3) and 7% (< P10). Significantly higher values were observed in Puna and Quebrada in both SGA categories and across all periods. Only in Valle, significant differences were observed between sexes across all periods. The prevalence of SGA showed a significant downward secular trend at a provincial and regional level, and this was greater in Quebrada (5.2% < P3 and 3.5% < P10). Conclusions. A consistent and significant decrease in the prevalence of SGA has been observed since the 1990s in Jujuy, where altitude is itself a determining factor of size at birth, since the Puna and Quebrada regions showed the highest prevalence of SGA during the entire period.

Introducción. El feto que no alcanza el potencial de crecimiento esperado en el útero se considera pequeño para la edad gestacional (PEG). Esta restricción depende de factores genéticos y/o ambientales; la altura geográfica es uno muy relevante. Este trabajo analiza la distribución espacial de las prevalencias de PEG y su tendencia secular en Jujuy (1991-2014). Materiales y métodos. Se analizaron los registros de 308 469 nacidos vivos de Jujuy (Dirección de Estadísticas e Información de Salud). Se estimaron prevalencias de PEG (peso/edad gestacional

Chilean reference of length at birth.

BACKGROUND: To generate a reference of length at birth (LB) according to sex and gestational age (GA) of the Chilean population. METHODS: This cross-sectional observational study used public pooled Chilean newborn (NB) population data registered by the Civil Registry and Identification Service in Chile from 2000 to 2016. Multiple births, entries without information for LB, GA, and sex, and birth lengths <-4SD and > 4SD, were excluded. After applying the selection and randomization criteria, the final sample was made up of 5 010 963 NB (2 560 310 boys; 2 450 653 girls). Length at birth centiles by sex and GA (24-42 weeks) were calculated using the GAMLSS method and then compared with the INTERGROWTH-21st standard. RESULTS: Girls had a lower LB than boys. For most GA and in both sexes, the absolute and percentage differences of percentiles as compared with INTERGROWTH-21st were lower than 1 cm and 1%, respectively. CONCLUSIONS: We present a reference for LB by sex and GA in the Chilean population, developed following updated methodological criteria for neonatal anthropometry, which is acceptably consistent with the INTERGROWTH-21st standard. The reference we propose may be used in clinical and epidemiological studies to identify either Chilean individuals or populations, respectively, at higher risk of perinatal and infant adverse events related to LB.

Human Y chromosome sequences from Q Haplogroup reveal a South American settlement pre-18,000 years ago and a profound genomic impact during the Younger Dryas.

The settlement of the Americas has been the focus of incessant debate for more than 100 years, and open questions regarding the timing and spatial patterns of colonization still remain today. Phylogenetic studies with complete human Y chromosome sequences are used as a highly informative tool to investigate the history of human populations in a given time frame. To study the phylogenetic relationships of Native American lineages and infer the settlement history of the Americas, we analyzed Y chromosome Q Haplogroup, which is a Pan-American haplogroup and represents practically all Native American lineages in Mesoamerica and South America. We built a phylogenetic tree for Q Haplogroup based on 102 whole Y chromosome sequences, of which 13 new Argentine sequences were provided by our group. Moreover, 1,072 new single nucleotide polymorphisms (SNPs) that contribute to its resolution and diversity were identified. Q-M848 is known to be the most frequent autochthonous sub-haplogroup of the Americas. The present is the first genomic study of Q Haplogroup in which current knowledge on Q-M848 sub-lineages is contrasted with the historical, archaeological and linguistic data available. The divergence times, spatial structure and the SNPs found here as novel for Q-Z780, a less frequent sub-haplogroup autochthonous of the Americas, provide genetic support for a South American settlement before 18,000 years ago. We analyzed how environmental events that occurred during the Younger Dryas period may have affected Native American lineages, and found that this event may have caused a substantial loss of lineages. This could explain the current low frequency of Q-Z780 (also perhaps of Q-F4674, a third possible sub-haplogroup autochthonous of the Americas). These environmental events could have acted as a driving force for expansion and diversification of the Q-M848 sub-lineages, which show a spatial structure that developed during the Younger Dryas period.

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

BACKGROUND: Autosomal recessive (AR) complete IRF8 deficiency is a rare severe inborn error of immunity underlying an absence of blood myeloid mononuclear cells, intracerebral calcifications, and multiple infections. Only three unrelated patients have been reported. MATERIALS AND METHODS: We studied an Argentinian child with multiple infectious diseases and severe pulmonary alveolar proteinosis (PAP). We performed whole-exome sequencing (WES) and characterized his condition by genetic, immunological, and clinical means. RESULTS: The patient was born and lived in Argentina. He had a history of viral pulmonary diseases, disseminated disease due to bacillus Calmette-Guérin (BCG), PAP, and cerebral calcifications. He died at the age of 10 months from refractory PAP. WES identified two compound heterozygous variants in IRF8: c.55del and p.R111*. In an overexpression system, the p.R111* cDNA was loss-of-expression, whereas the c.55del cDNA yielded a protein with a slightly lower molecular weight than the wild-type protein. The mutagenesis of methionine residues downstream from c.55del revealed a re-initiation of translation. However, both variants were loss-of-function in a luciferase assay, suggesting that the patient had AR complete IRF8 deficiency. The patient had no blood monocytes or dendritic cells, associated with neutrophilia, and normal counts of NK and other lymphoid cell subsets. CONCLUSION: We describe the fourth patient with AR complete IRF8 deficiency. This diagnosis should be considered in children with PAP, which is probably due to the defective development or function of alveolar macrophages.

Referencias de índice de masa corporal. Precisión diagnóstica con área grasa braquial en escolares argentinos / Body mass index references. Diagnostic accuracy with the upper-arm fat area in Argentine schoolchildren

El índice de masa corporal (IMC) es una eficaz herramienta para detectar la sobrecarga ponderal en niños y adolescentes, asociado a la adiposidad corporal. Objetivo. Analizar la concordancia, sensibilidad y especificidad de tres referencias internacionales de IMC/edad (OMS, IOTF y CDC) para diagnosticar el exceso ponderal y conocer su precisión diagnóstica para identificar el exceso de adiposidad con relación al área grasa braquial (AGB) en población infanto juvenil de Argentina. Materiales y métodos. Se realizó un estudio multicéntrico, descriptivo-comparativo y transversal entre 2003 y 2008, en 22.658 niños y adolescentes argentinos de 4 a 13 años de edad. A partir del peso, talla, circunferencia del brazo y pliegue tricipital, se calcularon IMC y AGB. Se analizó la concordancia, sensibilidad y especificidad de referencias de IMC/edad (OMS, CDC, IOTF) y la precisión diagnóstica (curvas ROC) para identificar exceso de adiposidad, a partir del AGB, así como el punto de corte óptimo (PCO). Resultados. Las tres referencias tuvieron buena concordancia. La mayor sensibilidad correspondió a OMS y la mayor especificidad a IOTF. El área bajo la curva (ABC) fue mayor en Z-IMC/IOTF en varones y en Z-IMC/OMS en mujeres. Los PCO mostraron discrepancias, siendo mayores con OMS. Conclusión. Las tres referencias muestran similar precisión diagnóstica para detectar alta reserva calórica, con puntos de corte óptimo para las puntuaciones Z-IMC menores a 2 Z scores. Esto resulta relevante para la identificación de exceso de adiposidad en poblaciones, en relación con la implementación de políticas públicas de prevención de enfermedades crónicas no transmisibles(AU)

The body mass index (BMI) is an effective tool to detect weight overload in children and adolescents, associated with body adiposity. Objective. To analyze the concordance, sensitivity and specificity of three international BMI/age references (WHO, IOTF and CDC) to diagnose excess weight and to know their diagnostic accuracy to identify excess adiposity in relation to the brachial fat area (BFA) in Argentine child-youth population. Materials and methods. A multicenter, descriptive- comparative and cross-sectional study was carried out between 2003 and 2008 in 22.658 Argentine children and adolescents between aged 4 to 13 years. From the weight, height, arm circumference and tricipital fold, BMI and BFA were calculated. The concordance, sensitivity, and specificity of BMI / age references (WHO, IOTF, CDC,) were analyzed and the diagnostic precision (ROC curves) to identify excess adiposity, from the BFA, as well as the optimal cut-off point (OCP). Results. The three references had good agreement, the highest sensitivity corresponded to WHO and the highest specificity to IOTF. The area under the curve (AUC) was greater in Z-BMI/IOTF in men and in Z-BMI/WHO in women. The OCPs showed discrepancies, being higher with WHO. Conclusion. The three references show similar diagnostic accuracy to detect high caloric reserve, but with cut-off points for Z-BMI scores less than 2 Z scores. This is relevant for the identification of excess adiposity in populations in relation to the implementation of public policies for the prevention of chronic non-communicable diseases(AU)

Neonatal anthropometry of malformed newborns: A large South American population-based study.

BACKGROUND: Population-based anthropometric evaluation of malformed newborns is scarce. OBJECTIVES: To evaluate malformed newborns' foetal growth using the ICD 10 malformations' classification. METHODS: A study including 33,769 newborns (14,857 malformed and 18,912 nonmalformed), selected from 678,840 births from nine South American countries, period 2010-2018, was conducted. Prevalence of severe small and small for gestational age was calculated for malformed and nonmalformed newborns classified by preterm birth categories. Prevalence and relative risk (RR) with its 95% confidence interval (CI) were calculated. The associations between anthropometric phenotypes and congenital malformations were evaluated with generalized linear models. RESULTS: Prevalence of preterm and term severe small and small for gestational age newborns was higher in malformed than that in nonmalformed neonates. For grouped ICD 10 malformations categories, the RR for severe small for gestational age was 2.88 (95% CI 2.51, 3.30) and 2.10 (95% CI 1.92, 2.30) for small for gestational age. For at-term and preterm malformed newborns, the RR for severe small for gestational age was 2.21 (95% CI 1.87, 2.61) and 3.21 (95% CI 2.52, 4.10), respectively; for small for gestational age, the RR was 2.31 (95% CI 2.11, 2.53) for at-term newborns and 2.58 (95% CI 2.16, 3.08) for preterm ones. CONCLUSIONS: Prevalence and relative risk of severe small and small for gestational age vary according to the group of malformations and gestational age; they increase in congenital malformations of the nervous, respiratory and digestive systems, and in chromosomal abnormalities and are lower for malformations of eye, ear, face and neck and cleft lip and palate. Foetal growth considered together with malformed newborns' gestational age would allow for inferring different risks of morbidity and mortality.

Birth Size and Maternal, Social, and Environmental Factors in the Province of Jujuy, Argentina.

INTRODUCTION: birth size is affected by diverse maternal, environmental, social, and economic factors. AIM: analyze the relationships between birth size-shown by the indicators small for gestational age (SGA) and large for gestational age (LGA)-and maternal, social, and environmental factors in the Argentine province of Jujuy, located in the Andean foothills. METHODS: data was obtained from 49,185 mother-newborn pairs recorded in the Jujuy Perinatal Information System (SIP) between 2009 and 2014, including the following: newborn and maternal weight, length/height, and body mass index (BMI); gestational age and maternal age; mother's educational level, nutritional status, marital status and birth interval; planned pregnancy; geographic-linguistic origin of surnames; altitudinal place of birth; and unsatisfied basic needs (UBN). The dataset was split into two groups, SGA and LGA, and compared with adequate for gestational age (AGA). Bivariate analysis (ANOVA) and general lineal modeling (GLM) with multinomial distribution were employed. RESULTS: for SGA newborns, risk factors were altitude (1.43 [1.12-1.82]), preterm birth (5.33 [4.17-6.82]), older maternal age (1.59 [1.24-2.05]), and primiparous mothers (1.88 [1.06-3.34]). For LGA newborns, the risk factors were female sex (2.72 [5.51-2.95]), overweight (1.33 [1.22-2.46]) and obesity (1.85 [1.66-2.07]). CONCLUSIONS: the distribution of birth size and the factors related to its variability in Jujuy are found to be strongly conditioned by provincial terrain and the clinal variation due to its Andean location.

Surnames and population structure in the Doctrine of Belén, Altos de Arica, Viceroyalty of Peru (1750-1813).

The analysis of multiple population structures (biodemographic, genetic and socio-cultural) and their inter-relations contribute to a deeper understanding of population structure and population dynamics. Genetically, the population structure corresponds to the deviation of random mating conditioned by a limited number of ancestors, by restricted migration in the social or geographic space, or by preference for certain consanguineous unions. Through the isonymic method, surname frequency and distribution across the population can supply quantitative information on the structure of a human population, as they constitute universal socio-cultural variables. Using documentary sources to undertake the Doctrine of Belén's (Altos de Arica, Chile) historical demography reconstruction between 1763 and 1820, this study identified an indigenous population with stable patronymics. The availability of complete marriage, baptism and death records, low rates of migration and the significant percentage of individuals registered and constantly present in this population favoured the application of the isonymic method. The aim of this work was to use given names and surnames recorded in these documentary sources to reconstruct the population structure and migration pattern of the Doctrine of Belén between 1750 and 1813 through the isonymic method. The results of the study were consistent with the ethno-historical data of this ethnic space, where social cohesion was, in multiple ways, related to the regulation of daily life in colonial Andean societies.

Secular trend in infant deaths by congenital malformations in Argentina (1980-2018). / [Tendencia secular (1980-2018) de las muertes infantiles por malformaciones congenitas en Argentina.]

Introduction: Congenital malformations (CM) represent the second cause of infant death in Argentina. Objective: To analyze the secular trend (1980-2018) of infant deaths due to CM at the regional and provincial level. Material and methods: The data come from the DEIS (Ministry of Health) and include the absolute number of deaths and live births and deaths by CM coded according to ICD-10 (Codes Q00-Q99). Infant mortality rate due to CM (IMR-CM) (number of deaths due to congenital malformations / number of newborns) and the proportion of deaths from CM (PD-CM) (percentage of deaths from congenital malformations / deaths from all causes) were calculated by regions (Center, NOA, NEA, Cuyo and Patagonia) and provinces. The period was divided into 7 subgroups of five years and one of 4. Secular trend was analyzed using a Poisson model. A line and bar graph were used to represent graphically the differences in the IRM-CM and PD-CM at the regional level. Results: At the country level, there was a pattern characterized by the significant decrease and increase of the IMR-CM and PD-CM respectively. This pattern is repeated in the Central, Cuyo and Patagonia regions and in the provinces of Buenos Aires, Santa Fé, Entre Ríos, Neuquén, La Pampa, Mendoza and Santa Cruz. In the remaining regions and provinces, the IMR-CM exhibits a heterogeneous behavior. Conclusion: To analyze the secular trend (1980-2018) of infant deaths due to CM at the regional and provincial level.

Introducción: Las malformaciones congénitas (MC) representan la segunda causa de muertes infantiles en Argentina. Objetivo: Analizar la tendencia secular (1980-2018) de las muertes infantiles por MC a nivel regional y provincial. Material y métodos: Los datos proceden de la DEIS (Ministerio de Salud) y comprenden el número absoluto de fallecidos y de nacidos vivos y las defunciones por MC codificadas según CIE-10 (Códigos Q00-Q99). Se calculó por regiones (Centro, NOA, NEA, Cuyo y Patagonia) y provincias la tasa de MI por MC (TMI-MC) (número de muertos por malformaciones congénitas / número de recién nacidos) y la proporción de muertes infantiles por malformaciones congénitas (PM-MC) (porcentaje de muertes por malformaciones congénitas / muertes por todas las causas). El período se dividió en 7 subgrupos de cinco años y uno de 4. La tendencia secular se analizó mediante un modelo de Poisson. Para representar de manera gráfica las diferencias en la TMI-MC y PM-MC a nivel regional se utilizó un gráfico de líneas y barras. Resultados: A nivel país se registró un patrón caracterizado por el descenso y ascenso significativos de la TMI-MC y PM-MC respectivamente. Este patrón se repite en las regiones Centro, Cuyo y Patagonia y en las provincias de Buenos Aires, Santa Fé, Entre Ríos, Neuquén, La Pampa, Mendoza y Santa Cruz. En las restantes regiones y provincias la TMI-MC exhibe un comportamiento heterogéneo. Conclusión: La heterogeneidad regional y provincial de la tendencia de TMI-MC y PM-MC refleja las inequidades espaciales socioeconómicas del país en las últimas décadas.

Continental Origin for Q Haplogroup Patrilineages in Argentina and Paraguay.

Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.

Excess weight and thinness over two decades (1996-2015) and spatial distribution in children from Jujuy, Argentina.

BACKGROUND: The increase of excess weight around the world is progressive and sustained in children. This is the most prevalent form of malnutrition in this population and they represent the major public health problem in developed and developing countries. The aim of this study was to analyze the magnitude of change in thinness and excess weight prevalence in 4-7 years-old schoolchildren from Jujuy (Argentina), between 1996 and 2015 and to examine the association according to sex and school location. METHODS: Cross-sectional study. Data was obtained from databases of School Health programs and it is representative of the city school population. For the analysis, 31,014 schoolchildren between 4 and 7 years old were evaluated, 20,224 from the first period (1996-2001) and 10,790 from the second (2010-2015). The city was partitioned in three different areas determined by the rivers that cross it. Nutritional status was determined by BMI for age with the criteria suggested by the International Obesity Task Force. The percentage of malnutrition change between periods was calculated and a binomial regression model was adjusted. RESULTS: Between periods, a significant (p-value< 0.0001) increase in the prevalence of overweight from 15.1% (CI 14.6-15.6%) to 18.1% (CI 17.4-18.8%) and obesity from 5% (CI 4.7-5.3) to 10.7% (CI 10.1-11.3%), and a decrease of thinness prevalence from 6.3% (CI 6.0-6.7%) to 4.7% (CI 4.3-5.1%) were observed. The percentage of change in the prevalence of obesity was very high in all areas and in both sexes (103.5% girls; 125.6% in boys), being higher in the south for girls (122.4%) and in the north for boys (158.8%). Besides, being a boy was inversely associated with the presence of excess weight and, as the age increases, the presence of obesity does it too. By analyzing the effect of the school location, the south and north zones had an inverse association with the presence of obesity. The period has a direct association with the presence of excess weight. CONCLUSION: The study contributes with valuable information on the magnitude of the increase in obesity in schoolchildren and suggests a possible correlation with sex and spatial distribution in the capital city of Jujuy.