ABSTRACT
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.
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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.
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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.
Subject(s)
Communicable Diseases , Pulmonary Alveolar Proteinosis , Child , DNA, Complementary , Humans , Infant , Interferon Regulatory Factors/genetics , Male , Monocytes , Pulmonary Alveolar Proteinosis/diagnosis , Pulmonary Alveolar Proteinosis/geneticsABSTRACT
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.
Subject(s)
Birth Weight , Infant, Newborn , Infant , Pregnancy , Male , Female , Humans , Chile , Reference Values , Cross-Sectional Studies , Gestational AgeABSTRACT
INTRODUCTION: Waist circumference (WC) constitutes an indirect measurement of central obesity in children and adolescents. OBJECTIVE: To provide percentiles of WC for Hispanic-American children and adolescents, and compare them with other international references. MATERIALS AND METHODS: The sample comprised 13 289 healthy children between 6 and 18 years coming from public schools of middle and low socioeconomic levels in different parts of Argentina, Cuba, Spain, Mexico, and Venezuela. The LMS method to calculate WC percentiles was applied. Sex and age differences were assessed using Student's t test and ANOVA (SPSS v.21.0). Comparisons were established with references from the United States, Colombia, India, China, Australia, Kuwait, Germany, Tunisia, Greece, and Portugal. RESULTS: WC increases with age in both sexes. Boys show higher WC in P3, P50, and P97. Comparison of 50th and 90th percentiles among populations from diverse sociocultural and geographical contexts shows high variability, not all justified by the measurement method. DISCUSSION AND CONCLUSIONS: Specific WC percentiles for sex and age, and P90 cut-off points are provided; these values are potentially useful to assess central obesity in Hispanic-American adolescent children.
Subject(s)
Socioeconomic Factors , Waist Circumference , Adolescent , Age Factors , Argentina , Child , Cuba , Female , Humans , Male , Mexico , Sex Factors , Social Class , Spain , VenezuelaABSTRACT
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.
Subject(s)
Overweight , Thinness , Argentina/epidemiology , Body Mass Index , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Male , Overweight/epidemiology , Prevalence , Thinness/epidemiologyABSTRACT
Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task. Surnames can be compared to a genetic system with multiple neutral alleles and allow some approximation of population structure. Here, surname analysis of more than 37 million people was combined with health and socio-demographic indicators covering all 1794 municipalities of the nine states of the region. The data distribution showed a heterogeneous spatial pattern (Global Moran Index, GMI = 0.58; p < 0.001), with higher isonymy rates in the east of the region and the highest rates in the Quilombo dos Palmares region - the largest conglomerate of escaped slaves in Latin America. A positive correlation was found between the isonymy index and the frequency of live births with congenital anomalies (r = 0.268; p < 0.001), and the two indicators were spatially correlated (GMI = 0.50; p < 0.001). With this approach, quantitative information on the genetic structure of the Brazilian Northeast population was obtained, which may represent an economical and useful tool for decision-making in the medical field.
Subject(s)
Genetics, Medical/statistics & numerical data , Genetics, Population/statistics & numerical data , Names , Adolescent , Adult , Aged , Brazil , Female , Humans , Male , Middle Aged , Population Dynamics , Young AdultABSTRACT
In human populations various flexible, labile and interdependent structures (genetic, demographic, socioeconomic) co-exist, each of which can be organized in an hierarchical order corresponding to administrative entities. The relationship between consanguinity, as estimated by random isonymy (F ST), and socioeconomic conditions was analysed at different levels of political and administrative organization in Argentina. From the surnames of 22,666,139 voters from the 2001 electoral roll, F ST was estimated for 510 Argentinian departments. Using a principal component analysis, a Socio-Demographic and Economic Indicator (SDEI), summarizing the effect of 22 socioeconomic and demographic variables at the departmental level, was computed. The relationship between departmental F ST and SDEI values was analysed for the whole nation and within regions using multiple regression analysis. The F ST presented a clinal distribution with the highest values in the north and west of the country, while SDEI expressed the opposite behaviour. A negative and significant correlation was observed between F ST and SDEI, accounting for 46% of the variation in consanguinity in Argentina. The strongest correlations of F ST with SDEI were observed in the Central, Patagonia and Cuyo regions, i.e. those with the highest values of SDEI and lowest values of F ST.
Subject(s)
Consanguinity , Names , Population Dynamics , Socioeconomic Factors , Argentina , Demography , Family Characteristics , Female , Humans , Male , Principal Component Analysis , Regression AnalysisABSTRACT
When migrating, people carry their cultural and genetic history, changing both the transmitting and the receiving populations. This phenomenon changes the structure of the population of a country. The question is how to analyze the impact on the border region. A demographic and geopolitical analysis of borders requires an interdisciplinary approach. An isonymic analysis can be a useful tool. Surnames are part of cultural history, sociocultural features transmitted from ancestors to their descendants through a vertical mechanism similar to that of genetic inheritance. The analysis of surname distribution can give quantitative information about the genetic structure of populations. The isonymic relations between border communities in southern Bolivia and northern Argentina were analyzed from electoral registers for 89 sections included in four major administrative divisions, two from each country, that include the international frontier. The Euclidean and geographic distance matrices where estimated for all possible pairwise comparisons between sections. The average isonymic distance was lower between Argentine than between Bolivian populations. Argentine sections formed three clusters, of which only one included a Bolivian section. The remaining clusters were exclusively formed by sections from Bolivia. The isonymic distance was greater along the border. Regardless of the intense human mobility in the past as in the present, and the presence of three major transborder conurbations, the Bolivian-Argentine international boundary functions as a geographical and administrative barrier that differentially affects the distribution and frequency of surnames. The observed pattern could possibly be a continuity of pre-Columbian regional organization.
Subject(s)
Human Migration , Names , Adult , Anthropology, Cultural , Argentina , Bolivia , Cluster Analysis , Genetic Heterogeneity , Genetics, Population , Humans , Phylogeny , Population DynamicsABSTRACT
BACKGROUND: Highland child populations show low growth rates. AIM: To evaluate the variation of size, mass and body surface area of Jujenean infants (1-4 years) as a function of geographic altitude. SUBJECTS AND METHODS: Nutritional status of 8059 healthy infants was determined based on weight and height data; body mass index, ponderal index, body surface area, body surface area/mass and ectomorphy were calculated. Variables were standardized with a provincial mean and WHO references. Data were grouped by age, sex and geographic altitude: Highlands (≥2500 masl) and Lowlands (<2500 masl). Chi-square, correlation and t-tests were applied. RESULTS: Highlands infants had higher prevalence of stunting, reduced height, weight, body surface area and ectomorphy; also higher body mass index, ponderal index and body surface area/mass. The population average z-score for height, weight and body surface area was positive in Lowlands and negative in Highlands. The opposite happened with body mass index, ponderal index and body surface area/mass. In Highlands and Lowlands the average z-score reference was negative for weight and height and positive for body mass index. Correlations between indices were high and significant, higher in Highlands. CONCLUSION: Jujenean children differ in size, mass and body surface area based on the geographical altitude and adverse nutritional and socioeconomic factors.
Subject(s)
Adaptation, Physiological/physiology , Altitude , Body Size/physiology , Growth and Development/physiology , Nutritional Status/physiology , Argentina/epidemiology , Body Mass Index , Body Surface Area , Child, Preschool , Female , Geography , Growth Disorders/epidemiology , Humans , Infant , Male , Socioeconomic FactorsABSTRACT
OBJECTIVE: To analyze the spatial and temporal distribution (1997-2011) of infant mortality resulting from congenital malformations (CM) in Chile. METHODS: Data on births and deaths among infants aged less than one year using ICD-10 coding were obtained from the National Statistics Institute. The percentage of deaths from CM (PD-CM) and the infant mortality rate from CM (IMR-CM) during three different periods (1997-2001, 2002-2009, 2007-2011) were estimated for Chile's administrative and natural regions (Norte Grande, Norte Chico, Central, Austral, and Sur), broken down by systems (nervous, cardiovascular, digestive, genitourinary, musculoskeletal, and chromosomal abnormalities) and by 28 specific malformations. The secular trend and the variation in the risk of death were estimated using a Poisson regression model. RESULTS: For the whole of Chile, the secular trend for the IMR-CM was negative, and the secular trend for the PD-CM was positive (P < 0,01). The IMR-CM and the PD-CM both showed mild spatial heterogeneity in all administrative and natural regions. The Central region was the natural region that came closest to showing the pattern observed nationwide. The IMR-CM involving the nervous and cardiovascular systems and specific types of CM (anencephaly, spina bifida, and atrial and ventricular septal defects) showed a negative secular trend. For Chile as a whole, the pattern of infant mortality from CM is marked by a drop in the IMR-CM and by an increase in the PD-CM over the period from 1997 to 2011. CONCLUSION: The findings suggest that Chile is in the latter stages of the epidemiological transition with respect to the causes of infant mortality. However, these indicators show disparities between regions, more pronounced in the south of the country.
Subject(s)
Infant Mortality , Anencephaly , Chile , Humans , Infant , International Classification of Diseases , Spatial AnalysisABSTRACT
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.
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BACKGROUND: Various anthropometric parameters have been proposed for defining overweight in adolescence, but few studies have evaluated their diagnostic accuracy in comparative terms, using samples from different regions. AIM: To compare the performance of anthropometric parameters in determining the excess of adiposity in Argentinian and Spanish adolescents. SUBJECTS AND METHODS: The sample is composed of 1781 Argentinian and 1350 Spanish subjects, aged 12-17 years. Excess adiposity was defined as percentage BF in the 90th percentile or higher. ROC curves established the validity of parameters to define excess adiposity. RESULTS: Descriptive statistics showed differences between the Argentinian and Spanish samples. ROC curves indicate that all the parameters analysed had, in the Spanish and Argentinian samples, a positive and elevated association with excess of adiposity. The waist-to-height ratio had the highest value of the area under ROC curve (AUC), while conicity index and waist-to-hip ratio had the lowest. CONCLUSIONS: Differences exist with respect to size and body composition between the Argentinian and Spanish samples. ROC curves reflect a general pattern of variation. Waist-to-hip ratio and conicity index are less desirable in the diagnosis of excess adiposity and the most desirable is waist-to-height ratio.
Subject(s)
Adiposity , Anthropometry/methods , Body Composition , Body Size , ROC Curve , Adipose Tissue/metabolism , Adolescent , Argentina , Female , Geography , Humans , Male , Sex Characteristics , SpainABSTRACT
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.
Subject(s)
Premature Birth , Argentina/epidemiology , Birth Weight , Body Mass Index , Female , Gestational Age , Humans , Infant, Newborn , Infant, Small for Gestational Age , Parturition , Pregnancy , Premature Birth/epidemiology , Risk FactorsABSTRACT
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.
Subject(s)
Chromosomes, Human, Y , Genetics, Population , Chromosomes, Human, Y/genetics , Genomics , Haplotypes , Humans , PhylogenyABSTRACT
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.
Subject(s)
Infant Death , Argentina/epidemiology , Humans , InfantABSTRACT
Similarly to other populations across the Americas, Argentinean populations trace back their genetic ancestry into African, European and Native American ancestors, reflecting a complex demographic history with multiple migration and admixture events in pre- and post-colonial times. However, little is known about the sub-continental origins of these three main ancestries. We present new high-throughput genotyping data for 87 admixed individuals across Argentina. This data was combined to previously published data for admixed individuals in the region and then compared to different reference panels specifically built to perform population structure analyses at a sub-continental level. Concerning the Native American ancestry, we could identify four Native American components segregating in modern Argentinean populations. Three of them are also found in modern South American populations and are specifically represented in Central Andes, Central Chile/Patagonia, and Subtropical and Tropical Forests geographic areas. The fourth component might be specific to the Central Western region of Argentina, and it is not well represented in any genomic data from the literature. As for the European and African ancestries, we confirmed previous results about origins from Southern Europe, Western and Central Western Africa, and we provide evidences for the presence of Northern European and Eastern African ancestries.
Subject(s)
Black People/genetics , Genome, Human , Indians, South American/genetics , Marriage , Pedigree , White People/genetics , Argentina , Black People/ethnology , Colonialism , DNA/genetics , Enslavement , Genetic Markers , Genetic Variation , Genetics, Population , Genotype , Human Migration , Humans , Indians, South American/ethnology , Models, Genetic , White People/ethnologyABSTRACT
Background: Excess weight (EW) and alterations in lipid metabolism constitute risk factors for cardiovascular disease in adults and children. Prevalence of dyslipidemia in schoolchildren from Jujuy with EW is analyzed in this study. Methods: Cross-sectional descriptive study of 891 schoolchildren 10-14 years old (367 girls; 524 boys) from the province of Jujuy (Northwestern Argentina). Prevalence of dyslipidemia for Overweight (OW) and Obesity (OB) were calculated, according to the International Obesity Task Force cut-off points. Prevalence of lipid alterations were analyzed and 7 dyslipidemic profiles were established. Comparisons and associations between variables were analyzed by Chi-square test. Crude and adjusted odds ratio were estimated from a logistic regressions. Results: Regardless of sex and nutritional status, 13.7%, 21.8%, and 16.5% of schoolchildren showed high values of total cholesterol, triglycerides, and LDL cholesterol, respectively, and 20.3% had low HDL cholesterol. Significantly higher values of HDL cholesterol were found in OW, and of triglycerides in OB. A significant association was recorded between OB and high triglycerides. Schoolchildren with OB have a 54% more chances of showing at least one lipid alteration. Conclusion: EW, and especially OB, constitutes an important risk factor in the development of dyslipidemia in schoolchildren from Jujuy.
Introducción: El exceso de peso (EP) y las alteraciones del metabolismo lipídico constituyen factores de riesgo de enfermedad cardiovascular en adultos y en niños. En este estudio se analiza la prevalencia de dislipemias en escolares jujeños con EP. Población y métodos: Estudio descriptivo, de corte transversal de 891 escolares entre 10-14 años (367 mujeres; 524 varones) de la provincia de Jujuy (Noroeste de Argentina). Se calcularon las prevalencias de dislipemias para Sobrepeso (SP) y Obesidad (OB), determinados según puntos de corte de la International Obesity Task Force. Se analizaron las prevalencias de alteraciones lipídicas y se establecieron 7 perfiles dislipemicos. Las comparaciones y asociaciones entre variables se analizaron con Chi cuadrado. Se estimaron odds ratio crudos y ajustados a partir de una regresión logística. Resultados: Independientemente del sexo y del estado nutricional el 13.7%, 21.8% y 16.5% de los escolares presentaron colesterol total, triglicéridos y colesterol LDL alto, respectivamente y el 20.3% colesterol HDL bajo. Se observaron valores significativamente más elevados de colesterol HDL en SP y de triglicéridos en OB. Se registró asociación significativa entre OB y triglicéridos altos. Los escolares con OB exhiben 54% más de chances de presentar al menos una alteración lipídica.. Conclusión: El EP, y sobre todo la OB, constituye un factor de riesgo importante para el desarrollo de dislipemias en escolares jujeños
Subject(s)
Dyslipidemias/blood , Dyslipidemias/etiology , Overweight/complications , Adolescent , Argentina/epidemiology , Cardiovascular Diseases/blood , Cardiovascular Diseases/etiology , Child , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Cross-Sectional Studies , Dyslipidemias/epidemiology , Female , Humans , Male , Obesity/complications , Overweight/epidemiology , Prevalence , Schools , Triglycerides/bloodABSTRACT
Introduction: We present temporal and spatial variation of deaths from microcephaly in children under 1 year of age is analyzed at regional, state, and municipal level in the pre-Zika period in Brazil. Materials and Methods: Data on births and deaths of infants with microcephaly was obtained from DATASUS from 1996 to 2013. Infant mortality rate from microcephaly (IMR-M) was estimated at Region, Federative Unit (UF), and Municipality level. Secular trend (ST) and risk of death variation were estimated using a Poisson regression model. Satscan software was used to obtain a statistic spatial scan for the Poisson model. Results: IMR-M shows a non-significant negative ST in the Southeast, South and Central West Regions of Brazil. A greater IMR-M risk of death variation is found in the North and Northeast Regions. Most UFs in the Southeast, South and Central West Regions showed a negative ST, in contrast to what occurs in the UFs of the North and Northeast Regions showed a positive ST. Six high risk significant clusters were found: 3 in the North-Northeast and 3 in the South-SouthWest-Center-West. Conclusions: The North and Northeast Regions showed positive ST for IRM-M and higher death risk, which was not observed in the other regions. Cluster distribution for higher IMR-M and risk resembles the distribution of the microcephaly and Zika cases in the outbreak period.
Introducción: Presentamos la variación temporal y espacial de las muertes por microcefalia en niños menores de 1 año de edad que se analizan a nivel regional, estatal y municipal en el período pre-Zika en Brasil. Materiales y métodos: Los datos sobre nacimientos y muertes de niños con microcefalia se obtuvieron de DATASUS de 1996 a 2013. La tasa de mortalidad infantil por microcefalia (TMI-M) se estimó a nivel de Región, Unidad de Federativa (UF) y Municipio. La tendencia secular (TS) y la variación del riesgo de muerte se estimaron utilizando un modelo de regresión de Poisson. El análisis estadístico espacial fue realizado por un modelo de Poisson utilizando el software Satscan. Resultados: La TMI-M muestra un TS negativo no significativo en las regiones sudeste, sur y centro-oeste de Brasil. Una mayor variación de riesgo de muerte se encuentra en las regiones Norte y Noreste. La mayoría de las UF en las regiones Sureste, Sur y Centro-Oeste mostraron un TS negativa, en contraste con lo que ocurre en las UF de las Regiones Norte y Noreste mostraron una TS positiva. Se encontraron seis agrupamientos significativos de alto riesgo: 3 en el Norte-Noreste y 3 en el Sur-Sur-Oeste-Centro-Oeste. Conclusiones Las regiones Norte y Noreste mostraron una TS positiva para la TMI-M y un mayor riesgo de muerte, que no se observó en las otras regiones. La distribución de los agrupamientos de mayor TMI-M y riesgo se asemeja a la distribución de los casos de microcefalia y Zika en el período del brote. Conclusiones: Las regiones Norte y Noreste mostraron una TS positiva para la TMI-M y un mayor riesgo de muerte, que no se observó en las otras regiones. La distribución de los agrupamientos de mayor TMI-M y riesgo se asemeja a la distribución de los casos de microcefalia y Zika en el período del brote.
Subject(s)
Infant Mortality , Microcephaly/mortality , Microcephaly/virology , Zika Virus Infection/epidemiology , Zika Virus Infection/mortality , Brazil/epidemiology , Disease Outbreaks , Humans , Infant , Infant, Newborn , Spatio-Temporal AnalysisABSTRACT
INTRODUCTION: Background: mid-upper arm circumference (MUAC), subcutaneous fat and muscle measurements are an alternative method to diagnose overweight and evaluate growth as well as protein and energy reserves. Aim: to compare MUAC, arm muscle area (AMA) and arm fat area (AFA) measurements of Argentinean boys and girls (Sa) with reference curves for US boys and girls (R). Subjects and methods: data from 22,736 school-children aged 4-14 years from six Argentinean provinces were collected. MUAC and triceps skinfold thickness were measured and the derived AMA and AFA measures were calculated. Analyses were performed with GAMLSS using the R software. Differences in mean values of Sa and R were compared in percentiles 3, 50 and 97. Results: mean values of MUAC and AMA in boys and girls were higher in R than in Sa at all ages; conversely, AFA values were lower. Conclusions: our results confirm differences in upper arm anthropometry of Argentinean school-children with respect to the US reference. The higher adipose tissue and lower skeletal muscle mass observed in Argentinean children could be partly associated with the different ethnic origin of both populations. However, differences should be interpreted in the context of an obesogenic environment, which has favored a calorie-protein imbalance.
INTRODUCCIÓN: Antecedentes: la medición de la circunferencia del brazo (MUAC), así como la estimación de la grasa subcutánea y muscular constituyen un método alternativo para diagnosticar el sobrepeso y evaluar el crecimiento y las reservas proteicas y energéticas. Objetivo: comparar las mediciones de MUAC, área muscular (AMA) y área grasa (AFA) del brazo de niños y niñas argentinos (Sa) con curvas de referencia para niños y niñas de Estados Unidos (R). Sujetos y métodos: se recopilaron datos de 22,736 escolares de 4 a 14 años de edad de seis provincias argentinas. Se obtuvieron medidas de MUAC y pliegue subcutáneo tricipital y se calcularon AMA y AFA. Los análisis se realizaron con GAMLSS utilizando el software R. Las diferencias en los valores medios de Sa y R se compararon para los percentiles 3, 50 y 97. Resultados: a todas las edades los valores medios de MUAC y AMA en niños y niñas fueron más altos en R que en Sa; por el contrario, los valores de AFA fueron más bajos. Conclusiones: nuestros resultados confirman la existencia de diferencias en la antropometría mesobraquial de los niños argentinos con respecto a los de la referencia. La mayor cantidad de tejido adiposo y menor de tejido muscular observada en los niños argentinos de ambos sexos puede ser parcialmente asociada con el diferente origen étnico de ambas poblaciones. Sin embargo, las diferencias podrían interpretarse en el contexto de un ambiente obesogénico, el cual habría favorecido el desbalance proteico-calórico.