Publications by authors named "Emma Alfaro"

32 Publications

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

BMC Public Health 2021 01 22;21(1):196. Epub 2021 Jan 22.

Centro de Investigaciones en Nutrición Humana, Escuela de Nutrición, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Boulevard de la Reforma s/n, CP 5000, Córdoba, 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.
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http://dx.doi.org/10.1186/s12889-021-10239-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821675PMC
January 2021

Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina.

PLoS One 2020 16;15(7):e0233808. Epub 2020 Jul 16.

Departamento de Ecología, Genética y Evolución, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina.

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.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233808PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7365470PMC
September 2020

Proportionality indices, geographic altitude, and gestational age in newborns from Jujuy, Argentina.

Am J Hum Biol 2021 01 27;33(1):e23454. Epub 2020 Jun 27.

Instituto de Ecorregiones Andinas, Consejo Nacional de Investigaciones Científicas y Técnicas, Universidad Nacional de Jujuy, Jujuy, Argentina.

Background: There are several different proportionality indices (PRIs) to evaluate size at birth by gestational age (GA). Yet, the explanatory power of alternative PRIs has not been evaluated in highland (HL) populations.

Aim: Evaluate the relative utility of three PRIs, weight to length ratio (W/L), body mass index (BMI), and ponderal index (PI), for assessing nutritional status in newborns (NBs) from highland (HL ≥ 2000 m) and lowland (LL < 2000 m) regions of the Jujuy Province of Argentina.

Subjects And Methods: Births were registered by the Ministry of Health (Jujuy, 2009-2014). Data were grouped according to HL and LL altitude groups based on of maternal residence. The main outcome measures were the PRIs W/L ratio, BMI, and PI. Percentiles were generated by the LMS method and compared with references. ANOVAs and Pearson correlations were used to examine the relationship between outcome measures with weight and length by altitude, sex, and GA.

Results: In both altitude zones, W/L and BMI increased with GA, while PI stabilized between 37th and 42th weeks. The LL sample had significantly higher values for all the PRIs from the 37th week of GA. In the HL sample, the 50th percentiles for all three PRIs were lower than the reference. Regardless of GA and altitude level, BMI showed the lowest correlation with length and the higher with the weight.

Conclusion: The HL sample of term NBs had lower values for all PRIs compared to their LL counterparts. In both altitude zones, the BMI is the preferred PRI to evaluate the nutritional status.
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http://dx.doi.org/10.1002/ajhb.23454DOI Listing
January 2021

Dyslipidemia in schoolchildren with excess weight from Jujuy assessed by the program of school health

Rev Fac Cien Med Univ Nac Cordoba 2019 08 29;76(3):159-163. Epub 2019 Aug 29.

Instituto de Ecorregiones Andinas - CONICET-UNJu - Argentina Instituto de Biología de la Altura - Universidad Nacional de Jujuy - Argentina.

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.
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http://dx.doi.org/10.31053/1853.0605.v76.n3.23817DOI Listing
August 2019

Reference percentiles for mid-upper arm circumference, upper arm muscle and fat areas in the Argentine child and adolescent population (4-14 years old).

Arch Argent Pediatr 2019 08;117(4):e347-e355

Instituto de Ecorregiones Andinas (INECOA), Universidad Nacional de Jujuy (UNJu)-CONICET.

Introduction: Mid-upper arm circumference (MUAC) is widely recognized as an adequate indicator of nutritional status.

Objective: To estimate the reference percentiles for MUAC, upper arm muscle area (UAMA), and upper arm fat area (UAFA) in the Argentine child and adolescent population using the LMS method (lambda, mu, sigma).

Materials And Methods: The sample was made up of schoolchildren aged 4.0-13.9 years living in Jujuy, Catamarca, Misiones, Buenos Aires, Mendoza, and Chubut. MUAC and tricipital skinfold anthropometric measurements were obtained between 2003 and 2008 as per standardized protocols. UAMA and UAFA were calculated, and percentiles by age and sex were estimated and compared using an analysis of variance.

Results: A total of 22 736 schoolchildren (11 397 boys and 11 339 girls) were included. The 50th percentile was higher for the MUAC and UAFA among girls and for the UAMA among boys. The MUAC curves showed sharper increases as of 7 years old in all percentiles among both boys and girls. A similar pattern was observed for the UAMA, with higher values among boys. Lastly, the UAFA showed a constant increase among girls and a stabilization among boys as of 11 years old. Differences for age were observed.

Conclusions: The tabulated and plotted percentiles and the MUAC, UAMA, and UAFA may be used as local references for epidemiological and anthropological studies.
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http://dx.doi.org/10.5546/aap.2019.eng.e347DOI Listing
August 2019

Epidemiology of sudden unexpected death in infancy in Argentina: secular trend and spatial variation.

Arch Argent Pediatr 2019 06;117(3):164-170

Instituto de Ecorregiones Andinas (INECOA)-UNJu-Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET)-Instituto de Biología de la Altura (INBIAL), San Salvador de Jujuy.

Introduction: Infant mortality comprises deaths among infants younger than one year old. The proportion of sudden unexpected death in infancy (SUDI) varies by country and based on the cause of death.

Objective: To describe the spatial and temporal variation of SUDI in Argentina between 1991 and 2014 according to the International Classification of Diseases, tenth revision.

Materials And Methods: Based on infant death data (provided by the Health Statistics and Information Department), we estimated the percentage of SUDI over the total number of infant deaths and the frequency of causes of death at a provincial, regional, and national level. The risk for death and the secular trend were estimated using a Poisson regression. The SaTScan software, v9.1.1, was used to detect clusters of districts where the percentage of SUDI was significantly different from the national percentage.

Results: In Argentina, between 1991 and 2014, 267 552 infants younger than 1 year died; 7 % corresponded to SUDI; the secular trend of causes was negative and statistically significant; the risk for SUDI was 0.86, and a great spatial heterogeneity was observed. At a national level, the most common cause was sudden infant death syndrome, with inter-regional differences. In nine district clusters, the risk for SUDI ranged between 4.36 and 1.24, which is significantly different from the rest of the country.

Conclusions: The proportion of SUDI and its causes show inter-regional heterogeneity; codes related to inaccurate diagnoses predominated in more unfavorable regions, while sudden infant death syndrome was prevalent in the more developed regions.
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http://dx.doi.org/10.5546/aap.2019.eng.164DOI Listing
June 2019

Comparative study of mid-upper arm circumference, arm muscle area and arm fat area percentiles in Argentinean and US children aged 4-14 years.

Nutr Hosp 2019 Jul;36(3):552-562

Instituto de Ecorregiones Andinas (INECOA). UNJu-CONICET.

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.
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http://dx.doi.org/10.20960/nh.02426DOI Listing
July 2019

Geographic altitude and prevalence of underweight, stunting and wasting in newborns with the INTERGROWTH-21st standard.

J Pediatr (Rio J) 2019 May - Jun;95(3):366-373. Epub 2018 May 31.

Consejo Nacional de Investigaciones Científicas y Técnicas (Conicet), Instituto de Ecorregiones Andinas (Inecoa), Jujuy, Argentina; Universidad Nacional de Jujuy, Instituto de Biología de la Altura, Jujuy, Argentina.

Objective: To assess the prevalence and risks of underweight, stunting and wasting by gestational age in newborns of the Jujuy Province, Argentina at different altitude levels.

Methods: Live newborns (n=48,656) born from 2009-2014 in public facilities with a gestational age between 24 to 42 weeks. Phenotypes of underweight (
Results: The prevalence of underweight, stunting and wasting were 1.27%, 3.39% and 4.68%, respectively, and significantly higher at >2.000m.a.s.l. Maternal age, body mass index >35kg/m, hypertension, congenital malformations, and prematurity were more strongly associated with underweight rather than stunting or wasting at ≥2.000m.a.s.l.

Conclusions: Underweight, stunting, and wasting risks were higher at a higher altitude, and were associated with recognized maternal and fetal conditions. The use of those three phenotypes will help prioritize preventive interventions and focus the management of fetal undernutrition.
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http://dx.doi.org/10.1016/j.jped.2018.03.007DOI Listing
October 2019

Population structure in Argentina.

PLoS One 2018 1;13(5):e0196325. Epub 2018 May 1.

Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, United States.

We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence and migrations. We identified proportions and patterns of European, African and Native American ancestry and found a correlation between distance to Buenos Aires and proportion of Native American ancestry, where the highest proportion corresponds to the Northernmost populations, which is also the furthest from the Argentinian capital. Most of the European sources are from a South European origin, matching historical records, and we see two different Native American components, one that spreads all over Argentina and another specifically Andean. The highest percentages of African ancestry were in the Center West of Argentina, where the old trade routes took the slaves from Buenos Aires to Chile and Peru. Subcontinentaly, sources of this African component are represented by both West Africa and groups influenced by the Bantu expansion, the second slightly higher than the first, unlike North America and the Caribbean, where the main source is West Africa. This is reasonable, considering that a large proportion of the ships arriving at the Southern Hemisphere came from Mozambique, Loango and Angola.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0196325PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5929549PMC
August 2018

Prevalence of underweight and small for gestational age in Argentina: Comparison between the INTERGROWTH-21st standard and an Argentine reference

Arch Argent Pediatr 2017 12;115(6):547-555

Instituto de Ecorregiones Andinas (INECOA), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Universidad Nacional de Jujuy (UNJu), Instituto de Biología de la Altura (INBIAL), San Salvador de Jujuy.

Introduction: The term “low birth weight” (< 2500 g) encompasses preterm newborns and term newborns small for gestational age (SGA) (< P10). The World Health Organization de nes underweight as a birth weight < P3 of weight/ age. There is no consensus at an international level about which standards and/or references related to birth weight for gestational age (GA) should be used to assess SGA and underweight among preterm newborns. Underweight and SGA prevalence was determined using the INTERGROWTH-21st standard and Urquía’s reference for the Argentine population, and agreement between the prevalence observed with both tools was analyzed.

Population And Methods: Observational, analytical, and retrospective study based on all births occurred in 2013 as reported by the Argentine National Ministry of Health. Exclusion criteria were GA < 24+0 - > 42+6 weeks, twin pregnancy, and missing data on weight, GA, and sex. Prevalence was estimated by sex, region, and prematurity category for underweight and SGA according to the standard and the reference. Agreement was assessed using the Kappa index.

Results: The prevalence of underweight and SGA was higher according to the standard among preterm newborns; the contrary was observed among full-term newborns. Statistical signi cance varied based on GA category, sex, and region. A higher prevalence was observed in the northern regions of Argentina, and agreement among prevalence values ranged from weak to very good.

Conclusions: Prevalence agreement of underweight and SGA observed according to the standard and the reference among preterm and full-term newborn infants was moderate, with interregional variability. Results propose new auxological perspectives in the epidemiological assessment of intrauterine growth restriction in Argentina.
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http://dx.doi.org/10.5546/aap.2017.eng.547DOI Listing
December 2017

Relationship between infant mortality and altitude in the Northwest region of Argentina.

Arch Argent Pediatr 2017 Oct;115(5):462-469

Área de Genética Médica y Poblacional, Hospital Ramos Mejía, Ciudad de Buenos Aires.

Introduction: Given its location on the Andes, the Northwest region of Argentina is geographically, socioeconomically, culturally, and biologically heterogeneous, and this is reflected on an infant mortality rate (IMR) that is higher than in any other Argentine region.

Objetive: To estimate IMR, neonatal mortality rate (NMR), and post-neonatal mortality rate (PNMR), and to analyze their spatial and temporal variations using secular trends and the relative risk based on altitudinal zones.

Population And Method: This was a retrospective, descriptive, correlational study based on birth and death data recorded in the Northwest region of Argentina (1998-2010); IMR, NMR, PNMR, secular trends, and the relative risk of death were calculated by district and altitudinal zone (districts at < 2000 meters above sea level, lowlands; at > 2000 meters above sea level, highlands) by means of a cluster analysis.

Results And Conclusions: Rates were higher in the highlands; IMR was 29.8%o (versus 15.6%o in the lowlands); PNMR was 17.7% in the highlands (versus 5.2% in the lowlands). In the highlands, there was an annual average reduction of 3.9% in IMR and of 4.1% in PNMR; in the lowlands, such reduction was of 7.0% in IMR and of 9.3% in PNMR. The relative risk of IMR and PNMR was significantly higher at high-altitude zones. NMR, its secular trend, and the relative risk did not show statistically significant differences between both altitudinal zones.
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http://dx.doi.org/10.5546/aap.2017.eng.462DOI Listing
October 2017

CONSANGUINITY BY RANDOM ISONYMY AND SOCIOECONOMIC DEVELOPMENT IN ARGENTINA: A POPULATION STUDY.

J Biosoc Sci 2017 05 11;49(3):322-333. Epub 2016 Oct 11.

*Instituto de Ecorregiones Andinas (INECOA),Universidad Nacional de Jujuy,San Salvador de Jujuy,Argentina.

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.
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http://dx.doi.org/10.1017/S0021932016000444DOI Listing
May 2017

SUBSCAPULAR AND TRICEPS SKINFOLDS REFERENCE VALUES OF HISPANIC AMERICAN CHILDREN AND ADOLESCENTS AND THEIR COMPARISON WITH THE REFERENCE OF CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC).

Nutr Hosp 2015 Dec 1;32(6):2862-73. Epub 2015 Dec 1.

Instituto de Biología de la Altura. Universidad Nacional de Jujuy, Argentina..

Introduction: the assessment of the skinfold thickness is an objective measure of adiposity. Therefore, it is a useful tool for nutritional diagnosis and prevention of metabolic risk associated with excess fat in chilhood and adolescence.

Objective: to provide percentiles of subscapular and triceps skinfolds for Hispanic American schoolchildren and compare them with those published by the Centers for Disease Control and Prevention (CDC) from United States, that it have been commonly used as a reference in most of these countries.

Methods: subscapular and triceps skinfolds were measured in 9.973 schoolchildren 4-19 aged from Spain, Argentina, Cuba, Venezuela and Mexico with Holtain caliper with 0.2 mm accuracy. Percentiles were obtained with the LMS statistical method and were presented in tables divided in stages of 6 months and in curves graphics. The difference between Hispanic American and CDC mean values were provided for P3, P50 and P97 in mm and also were graphically represented.

Results: skinfolds measurements obviously increased with age in both sexes but, in boys, this increase is much more marked in highest percentiles between 8 and 13 years; this maximum is reached earlier than what occurs in CDC reference. In both sexes, all percentiles analized in Hispanic American schoolchildren were higher than the CDC reference except P97 up to 10 or 13 years that was notably smaller.

Conclusions: the skinfolds percentiles of Hispanic American children and adolescents differ from CDC that are usually used as reference. The values of subscapular and triceps skinfolds provided in this study, could be applied to populations of a similar ethnic background, especially in comparative studies of body composition.
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http://dx.doi.org/10.3305/nh.2015.32.6.9775DOI Listing
December 2015

Primary prevention of neural tube defects in Brazil: insights into anencephaly.

J Community Genet 2016 Jan 18;7(1):97-105. Epub 2015 Aug 18.

Departamento de Genetica, Universidade Federal do Rio Grande do Sul, Av. Bento Gonçalves 9500, Porto Alegre, Brazil.

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http://dx.doi.org/10.1007/s12687-015-0249-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715810PMC
January 2016

Geographical altitude, size, mass and body surface area in children (1-4 years) in the Province of Jujuy (Argentina).

Ann Hum Biol 2015 2;42(5):431-8. Epub 2014 Dec 2.

a Instituto de Biología de la Altura, Universidad Nacional de Jujuy (UNJu), San Salvador de Jujuy , Jujuy , Argentina .

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.
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http://dx.doi.org/10.3109/03014460.2014.959998DOI Listing
August 2016

Weight and height percentiles calculated by the LMS method in Argentinean schoolchildren. A comparative references study.

Ann Hum Biol 2015 30;42(5):439-46. Epub 2014 Oct 30.

f Grupo de Investigación en Epidemiología Nutricional, Departamento de Zoología y Antropología Física, Facultad de Ciencias Biológicas , Universidad Complutense de Madrid , Madrid , España .

Background: The Argentinean population is characterized by ethnic, cultural and socio-economic diversity.

Aim: To calculate the percentiles of weight-for-age (W/A) and height-for-age (H/A) of schoolchildren from Argentina employing the LMS method; and to compare the obtained percentiles with those of the international and national references.

Subjects And Methods: Anthropometric data of 18 698 students (8672 girls and 10 026 boys) of 3-13 years old were collected (2003-2008) from Buenos Aires, Catamarca, Chubut, Jujuy, La Pampa and Mendoza. Percentiles of W/A and H/A were obtained with the LMS method. Statistical and graphical comparisons were established with the WHO (international reference) and with that published by the Argentinean Paediatric Society (national reference).

Results: Differences in W/A and H/A, regarding the references, were negative and greater at the highest percentiles and in most of the age groups. On average, the differences were greater for boys than girls and for national than international references.

Conclusion: The distribution of weight and height of schoolchildren, coming from most regions of the country, differs from those of national and international references. It should be advisable to establish a new national reference based on internationally recognized methodological criteria that adequately reflect the biological and cultural diversity of the Argentinean populations.
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http://dx.doi.org/10.3109/03014460.2014.968207DOI Listing
August 2016

Surnames, geographic altitude, and digital dermatoglyphics in a male population from the province of Jujuy (Argentina).

Homo 2014 Jun 11;65(3):256-66. Epub 2014 Mar 11.

Departamento de Ciencias de la Vida, Facultad de Biología, Ciencias Ambientales y Química, Universidad de Alcalá, 28871 Alcalá de Henares, España; Instituto Universitario de Investigación en Ciencias Policiales, Universidad de Alcalá, 28802 Alcalá de Henares, Spain.

The possible association between finger dermatoglyphic patterns and altitude and surname distribution was analyzed in a sample of adult males from the province of Jujuy, Argentina. We also investigated the biological affinity of this population with other South American natives and admixed populations. Fingerprints were obtained from 996 healthy men, aged 18-20 years, from the highlands (HL: 2500m, Puna and Quebrada) and lowlands (LL: Valle and Selvas). Surnames were classified into native/autochthonous (A) or foreign (F), resulting in three surname classes: FF, when both paternal and maternal surnames were of foreign origin; FA, when one surname was foreign and the other was native; and AA, when both surnames were native. Frequencies of finger dermatoglyphic patterns - arches (A), radial loops (RL), ulnar loops (UL), and whorls (W) - were determined for each digit in relation to geographic location, altitude, and surname origin, resulting in the following categories: HL-FF, HL-FA, HL-AA, LL-FF, LL-FA, and LL-AA. The statistical analyses showed that UL and RL were more common in individuals of HL origin, whereas W and A were more frequent in the LL males (p<0.05). Significant associations were observed between finger dermatoglyphic patterns and surname origin when geographic altitude was considered. In the HL group, UL was associated with AA and FA; in the LL group, the presence of A was associated with FF and FA. The distribution of dermatoglyphic patterns shows that the population of Jujuy belongs to the Andean gene pool and that it has undergone differential levels of admixture related to altitude.
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http://dx.doi.org/10.1016/j.jchb.2014.01.001DOI Listing
June 2014

Random inbreeding, isonymy, and population isolates in Argentina.

J Community Genet 2014 Jul 6;5(3):241-8. Epub 2014 Feb 6.

Instituto de Biología de la Altura, Universidad Nacional de Jujuy, Avda. Bolivia 1661, 4600, San Salvador de Jujuy, Argentina,

Population isolates are an important tool in identifying and mapping genes of Mendelian diseases and complex traits. The geographical identification of isolates represents a priority from a genetic and health care standpoint. The purpose of this study is to analyze the spatial distribution of consanguinity by random isonymy (F ST) in Argentina and its relationship with the isolates previously identified in the country. F ST was estimated from the surname distribution of 22.6 million electors registered for the year 2001 in the 24 provinces, 5 geographical regions, and 510 departments of the country. Statistically significant spatial clustering of F ST was determined using the SaTScan V5.1 software. F ST exhibited a marked regional and departamental variation, showing the highest values towards the North and West of Argentina. The clusters of high consanguinity by random isonymy followed the same distribution. Recognized Argentinean genetic isolates are mainly localized at the north of the country, in clusters of high inbreeding. Given the availability of listings of surnames in high-capacity storage devices for different countries, estimating F ST from them can provide information on inbreeding for all levels of administrative subdivisions, to be used as a demographic variable for the identification of isolates within the country for public health purposes.
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http://dx.doi.org/10.1007/s12687-013-0181-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059845PMC
July 2014

Spatial and temporal analysis of infant mortality from congenital malformations in Brazil (1996-2010).

J Community Genet 2014 Jul 1;5(3):269-82. Epub 2013 Oct 1.

Área de Genética Médica y Poblacional, Servicio de Neonatología, Hospital General de Agudos Dr. José María Ramos Mejía, Buenos Aires, Argentina, General Urquiza 609 (1332),

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http://dx.doi.org/10.1007/s12687-013-0170-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059847PMC
July 2014

[Effect of high altitude on birth weight and adverse perinatal outcomes in two Argentine populations].

Rev Fac Cien Med Univ Nac Cordoba 2013 ;70(2):55-62

Introduction: Depending on the geographical altitude the purpose of this work was to analyze in two argentine populations the variation of birth weight (BW) and adverse perinatal outcomes, adjusting for maternal and obstetric factors.

Material And Methods: Data from 4000 births in the provinces of Jujuy and 4000 in Buenos Aires (Sarda Maternity Hospital) (1996-2000) recruited and randomized from the Perinatal Information System was used. The data were grouped according to an altitudinal gradient composed by Sarda Maternity (20 masl) and the geographic regions of Jujuy province: Ramal (500 masl), Valle (1200 masl), Quebrada (2500 masl) and Puna (3500 masl). Outcome variables were BW > 3000 g, BW <2500 g, ponderal index (PI), prematurity, small for gestational age (SGA) and intrauterine growth restriction (FGR), while potentially confounding variables were: age, type of partner, education, overweight, obesity, smoking, hypertension, preeclampsia, urinary infection, growth restriction and cesarean section.

Results: An increasing altitudinal gradient for adolescent mothers (<19 years) and decreasing for the rest of the maternal obstetric variables was observed. The BW, BW>3000 g, BW<2500 g and PI were negatively associated with altitude (p <0.001). Prematurity, SGA and FGR showed an opposite trend (p <0.001). Adjusted for confounding variables BW <3000 g, SGA, FGR<0.90 and PI <2.53 showed an increased risk with geographical altitude (p <0.05).

Conclusions: Altitude was independently associated with BW restriction and adverse perinatal outcomes. Given the impact of BW reduction in the risk of chronic no communicable diseases this relationship in other populations, regardless of their location altitude, should be assess.
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February 2014

Mitochondrial DNA control region data reveal high prevalence of Native American lineages in Jujuy province, NW Argentina.

Forensic Sci Int Genet 2013 May 20;7(3):e52-5. Epub 2013 Feb 20.

BIOMICs Research Group, Centro de Investigación Lascaray Ikergunea, Universidad del País Vasco (UPV/EHU), Vitoria-Gasteiz, Spain.

Mitochondrial control region (16024-576) sequences were generated from 180 individuals of four population nuclei from the province of Jujuy (NW Argentina), located at different altitudes above sea level. The frequency at which a randomly selected mtDNA profile would be expected to occur in the general population (random match probability) was estimated at 0.011, indicating a relatively high diversity. Analysis of the haplogroup distribution revealed that Native American lineages A2 (13.9%), B (56.7%), C1 (17.8%), D1 (8.9%) and D4h3a (1.1%) accounted for more than 98% of the total mtDNA haplogroup diversity in the sample examined. We detected a certain degree of genetic heterogeneity between two subpopulations located at different points along the altitudinal gradient (Valles and Puna), suggesting that altitude above sea level cannot be ruled out as a factor promoting divergences in mtDNA haplogroup frequencies, since altitude is closely associated with human living conditions, and consequently, with low demographic sizes and the occurrence of genetic drift processes in human communities. In all, mitochondrial DNA database obtained for Jujuy province strongly points to the need for creating local mtDNA databases, to avoid bias in forensic estimations caused by genetic substructuring of the populations.
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http://dx.doi.org/10.1016/j.fsigen.2013.01.007DOI Listing
May 2013

So close, so far away: analysis of surnames in a town of twins (Cândido Godói, Brazil).

Ann Hum Genet 2013 Mar 1;77(2):125-36. Epub 2013 Feb 1.

INAGEMP-Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil.

Cândido Godói is a small Brazilian town known for high rates of twin birth. In 2011, a genetic study showed that this localized high rate of twin births could be explained by a genetic founder effect. Here we used isonymic analysis and surname distribution to identify population subgroups within 5316 inhabitants and 665 different surnames. Four clusters were constructed based on different twin rates (P < 0.001; MRPP test). Fisher's α and consanguinity index showed low and high values, respectively, corresponding with observed values in isolated communities with high levels of genetic drift. Values of A and B estimators confirmed population isolation. Three boundaries were identified with Monmonier's maximum difference algorithm (P = 0.007). Inside the isolated sections, surnames of different geographic origins, language, and religion were represented. With an adequate statistical methodology, surname analyses provided a close approximation of historic and socioeconomic background at the moment of colony settlement. In this context, the maintenance of social and cultural practices had strong implications for the population's structure leading to drift processes in this small town, supporting the previous genetic study.
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http://dx.doi.org/10.1111/ahg.12001DOI Listing
March 2013

A study of the population of Paraguay through isonymy.

Ann Hum Genet 2011 Nov;75(6):678-87

Instituto de Biología de la Altura, Universidad Nacional de Jujuy, 4600 San Salvador De Jujuy, Argentina.

In order to describe the isonymic structure of Paraguay, the distribution of 4,843,868 surnames of 2,882,163 persons was studied in the 18 departments and 237 districts of the nation. The correlations between isonymic and geographic distances for departments were r = 0.713 ± 0.052 for Euclidean distance, 0.597 ± 0.074 for Nei's and 0.582 ± 0.076 for Lasker's, and for districts r = 0.320 ± 0.007, 0.235 ± 0.009 and 0.422 ± 0.008, respectively. Average α was 151 for the entire country, 140.6 ± 6.5 for departments and 108.2 ± 2.7 for districts. The geographical distribution of districts'α is compatible with the settlement of subsequent groups of migrants moving from South towards the Centre and North of Paraguay. The geographical analysis of the first three components of Lasker's isonymy distance matrix is in agreement with such a process. The prevalence of Spanish-Amerindian ethnic groups and the relative absence of indigenous surnames (absence due mainly to the forced surname change of 1848) is in agreement with the diffusion of Spanish speaking males over a low-density area populated by indigenous groups. The present distribution of Y-markers and mt-markers in the available studies in most Latin American populations is compatible with this process.
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http://dx.doi.org/10.1111/j.1469-1809.2011.00676.xDOI Listing
November 2011

[Anencephaly related infant mortality in Argentina: spatial and temporal analysis (1998-2007)].

Arch Argent Pediatr 2011 Apr;109(2):117-23

Área de Genética Médica y Poblacional, Servicio de Neonatología, Hospital General de Agudos Dr. José María Ramos Mejía, Ciudad de Buenos Aires.

Objective: Analyze the spatial and temporal distribution of infant mortality by anencephaly in Argentina in relation with folic acid fortification phases.

Population And Methods: Data came from certificates of live births and deaths in children under 1 year, for the 1998-2007 period (Argentine Ministry of Health). The infant mortality rate attributable to anencephaly for Argentina, geographical regions, provinces and departments were estimated according to the different phases of mandatory fortification with folic acid. Secular trend of infant mortality rate attributable to anencephaly and death risk due to anencephaly, spatial distribution by infant mortality rate attributable to anencephaly cluster and its correlation to latitude and longitude were also analyzed.

Results: Reduced risk of mortality due to anencephaly (53%) was observed at national level. The greatest decline occurred in Cuyo (69%) and lowest in the Northeast (35%) at regional level. Considerable infant mortality rate attributable to anencephaly heterogeneity was found at departmental level and less at provincial level. A cluster of 5.15/10 000 infant mortality rate attributable to anencephaly was identified in the northeast of Buenos Aires province, consisting of 29 departments, significantly different from the rest of the country.

Conclusions: While there was a statistically significant negative secular trend of infant mortality rate attributable to anencephaly, spatial disparities persist. The geographical distribution of anencephaly would guide the search for environmental/ genetic risk factors and strengthen primary prevention strategies, through mandatory fortification, folate intake and folic acid supplementation.
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http://dx.doi.org/10.1590/S0325-00752011000200005DOI Listing
April 2011

Microevolutionary processes due to landscape features in the province of Jujuy (Argentina).

Am J Hum Biol 2011 Mar-Apr;23(2):177-84. Epub 2010 Nov 10.

Departamento de Genética y Antropología Física, Facultad de Ciencia y Tecnología, Universidad del País Vasco, Bilbao, Spain.

Objectives: We seek to evaluate the influence of a diverse and rugged physical environment on the genetic background of human populations.

Methods: We analyzed eight polymorphic Alu insertions in 226 individuals from Jujuy province (Argentina), which is composed of several regions with well-defined geographical features and marked contrasts between them associated with differences in altitude (range: 700-3300 m). This regional division was used to assess the spatial variation of the Alu diversity.

Results: Deviations from Hardy-Weinberg Equilibrium expectations resulting from heterozygous deficit were found for FXIIIB and PV92 in the highest subpopulations. Several Alu elements showed genetic heterogeneity between the highest region (La Puna) and the lowest regions (Valle and Selva). Similarly, a decreasing trend of the average heterozygosity according to altitude was found. Both the centroid method and the admixture analysis unveiled a gene flow above the average in lowland populations, indicating a higher proportion of foreign genes introduced by immigrants of European and African ancestry. Furthermore, several Alu frequency clines fitting the orientation of the altitude gradient were detected.

Conclusions: Our study reveals a spatial patterning of the Alu diversity in Jujuy, most likely determined by disparities in landscape and environmental features between the different subregions. Differences in the physical environment would have drastically reduced the homogenizing effects of the gene flow and would have promoted genetic drift episodes in the highest subpopulations. Microevolutionary processes detected in Jujuy have played an important role in the shaping of the gene pool of the populations from this sub-Andean zone from Argentina.
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http://dx.doi.org/10.1002/ajhb.21098DOI Listing
April 2011

[Prevalence of malnutrition in institutionalized intellectually disabled patients].

Medicina (B Aires) 2011 ;71(1):1-8

Servicio de Genética, Hospital Colonia Nacional Dr. Manuel Montes de Oca, Provincia de Buenos Aires.

As patients with intellectual and developmental disability (ID) may be more exposed to unfavorable factors, they are at higher risk of suffering nutritional alterations. Our objective was to determine prevalence of malnutrition in institutionalized patients with ID. An evaluation of the nutritional status through determination of transversal anthropometric parameters of weight (kg) and height (cm) was made on 614 individuals (352 men and 262 women) institutionalized at Colonia Nacional Montes de Oca, Buenos Aires Province, Argentina. Body mass index and prevalence of underweight, overweight and obesity cases by sex and ID type: mild, moderate and severe intellectual disability were determined. Regardless of sex, prevalence of underweight, overweight and obesity were of 2.9%, 30% and 27.7%, respectively. Regardless of degree of ID, greater prevalence of obesity (41.2%) was found amongst women, while overweight (34.7%) was more frequent amongst men. Taking the degree of ID and regardless of sex, greater prevalence of underweight was observed in severe ID, and overweight and obesity amongst mild ID. No any of the patients with mild ID presented underweight. Taking into account sex and ID, higher prevalence of underweight and overweight were observed amongst men with mild ID, (7% and 38.4%, respectively) and of obesity in women with moderate ID (44%). Results obtained would indicate the importance of caloric intake and energy consumption control in adults with ID, paying particular attention to life conditions and alimentary disorders in terms of the degree of ID and their multiple associated disabilities.
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November 2011

Isonymy structure of Buenos Aires city.

Hum Biol 2009 Aug;81(4):447-61

Area Genética Médica, Hospital General de Agudos Dr. J. M. Ramos Mejia, General Urquiza 609, 1221 Ciudad de Buenos Aires, Argentina.

The isonymy structure of Buenos Aires was studied based on its surname frequency. Information on 2,552,359 voters of the 28 Buenos Aires districts was used to estimate Lasker's coefficient of relationship by isonymy (R(i)), surname diversity according to Fisher's alpha, the coefficient of consanguinity resulting from random isonymy (F), and Nei's, Lasker's and the Euclidean isonymy distances. These distances were correlated with geographic distances, which were calculated by assigning an arbitrary point to each district and measuring distances on a map of the city. The R(i) x 10(5) and F x 10(4) averages of the districts located south of Rivadavia Avenue were higher (R(i) = 66.08; F = 3.4) than those situated north of that avenue (R(i) = 46.60; F = 2.4) (p < 0.001). Fisher's alpha showed the opposite behavior (north, alpha = 1,055.5; south, alpha = 757.2). There was a significant correlation (p < 0.001) between geographic distance and Nei's and the Euclidean distances (0.496 and 0.503, respectively), but the correlation was not significant for Lasker's distance (0.051). These results indicate isolation by distance in the city of Buenos Aires and reveal subdivision of the metropolitan population, with greater consanguinity and a lesser variety of surnames in the districts located in the southern section of the city. This structure agrees with the fragmentation and social, cultural, and economic differences observed among the districts of this Latin American metropolis.
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http://dx.doi.org/10.3378/027.081.0404DOI Listing
August 2009

Brief communication: Restricted geographic distribution for Y-Q* paragroup in South America.

Am J Phys Anthropol 2009 Nov;140(3):578-82

Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), CCT- CONICET-La Plata 1900, Argentina.

We analyzed 21 paragroup Q* Y chromosomes from South American aboriginal and urban populations. Our aims were to evaluate the phylogenetic status, geographic distribution, and genetic diversity in these groups of chromosomes and compare the degree of genetic variation in relation to Q1a3a haplotypes. All Q* chromosomes from our series and five samples from North American Q* presented the derivate state for M346, that is present upstream to M3, and determined Q1a3* paragroup. We found a restrictive geographic distribution and low frequency of Q1a3* in South America. We assumed that this low frequency could be reflecting extreme drift effects. However, several estimates of gene diversity do not support the existence of a severe bottleneck. The mean haplotype diversity expected was similar to that for South American Q1a3* and Q1a3a (0.478 and 0.501, respectively). The analysis of previous reports from other research groups and this study shows the highest frequencies of Q* for the West Corner and the Grand Chaco regions of South America. At present, there is no information on whether the phylogenetic status of Q* paragoup described in previous reports is similar to that of Q1a3* paragroup though our results support this possibility.
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http://dx.doi.org/10.1002/ajpa.21133DOI Listing
November 2009

[Analysis of infant mortality from congenital malformations in Argentina during the 2002-2006 period].

Arch Argent Pediatr 2009 Jun;107(3):203-11

Servicio de Neonatología, Area Genética Médica, Hospital Dr. José María Ramos Mejía, Buenos Aires.

Objective: To analyze the trend and spatial distribution of infant mortality from congenital malformations in Argentina between 2002 and 2006.

Materials And Methods: Data were provided by the Ministry of Public Health. Congenital malformations were classified according to the International Classification of Diseases, 10th revision. Early neonatal, late neonatal and postneonatal infant mortality components, congenital malformations subgroups and specific malformations were estimated by departments, provinces, and regions to determine: a) Congenital malformations- related death rate; b) infant mortality rate due to congenital malformations. Both indicators were correlated with the respective departmental latitude/longitude.

Results: Infant mortality rate due to congenital malformations was 3.33 per thousand and congenital malformations- related death rate 22.7%. Both indicators showed great spatial variability and did not correlate to latitude/longitude. The lowest infant mortality rate due to congenital malformations and congenital malformations-related death rates were found in Patagonia and the Argentine northeast, respectively. The early neonatal period showed the highest infant mortality rate due to congenital malformations and congenital malformations-related death rates was over 20% in the 3 periods. The Argentine northwest and Argentine northeast showed the lower congenital malformations rates-related death rates in the three components than Centro, Cuyo and Patagonia.

Conclusions: The pattern of infant mortality from congenital malformations in Argentina is similar to that of developed countries, characterized by a decrease of infant mortality rate due to congenital malformations and increase of congenital malformations-related death rates, with a prevailing contribution of heart and nervous system malformations.
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http://dx.doi.org/10.1590/S0325-00752009000300007DOI Listing
June 2009

Geographic altitude, surnames, and height variation of Jujuy (Argentina) conscripts.

Am J Phys Anthropol 2009 Feb;138(2):158-63

Instituto de Biología de la Altura, Universidad Nacional de Jujuy, San Salvador de Jujuy, Argentina.

The height records of 48,589 conscripts born in Jujuy between 1870 and 1960 were examined in order to study the variation in adult male height (AMH) in terms of geographical altitude and surnames. Data were clustered by origin of surnames (divided into native and foreign names), decades, and according to the four Jujenean geographical regions distributed along an altitudinal gradient (Puna, Quebrada, Valle, and Ramal). The variation of surnames, geographical altitude, and time on human height were examined by analysis of variance. Regardless of the drafting year, individuals in the four regions bearing foreign surnames proved significantly taller (P < 0.001) than those who had a native surname. Average height, regardless of ethnic group, presented a reverse relationship to geographical altitude. A higher AMH was found in individuals bearing foreign surnames in Jujuy and lower ones in the population located in the highlands and bearing native surnames. Interregional and intergroup AMH variations would be affected by the complex interaction between geographical altitude and factors associated to it and by the ethnic characteristics of these population as well.
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http://dx.doi.org/10.1002/ajpa.20915DOI Listing
February 2009