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

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

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

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

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

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

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

Continental Origin for Q Haplogroup Patrilineages in Argentina and Paraguay.

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

Newborn anthropometry, maternal capital, and altitude in the highland population from the province of Jujuy, Argentina.

OBJECTIVE: To analyze variability in newborn (NB) anthropometry among Jujenean NBs as a function of geographic altitude (500 m to ≈4000 masl), maternal anthropometry and other maternal characteristics within the maternal capital framework. MATERIALS AND METHODS: Data obtained from 41,371 mother/child pairs recorded in the Jujuy Perinatal Information System (SIP) between 2009 and 2014, including: NB and maternal weight, length/height and BMI; gestational age (corrected); maternal age, educational level, nutritional status, and marital status; birth interval; and planned pregnancy. Based on the declared place of residence, the prevalence of unsatisfied basic needs (% UBN) was determined and the data was split into two altitudinal groups: highlands (HL, >2500 masl) and lowlands (LL, <2500 masl). ANOVA, Chi-squared and Pearson tests were applied as needed. Statistical associations between the response variables-NB weight, length and BMI-and maternal and environmental variables were tested using a Generalized Additive Mixed Model (GAMM). RESULTS: All NB and maternal anthropometric variables were lower in HL compared to LL; they also presented negative correlations with altitude, except NB length. Apart from gestational age and birth interval, HL and LL presented statistically significant differences in all study variables. GAMM results showed that maternal anthropometry was the main influence on NB weight and length. DISCUSSION: Of all the maternal capital features examined, only maternal anthropometric variables were found to protect offspring against the negative impact of HL environments.

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

Paternal heritage in Jujuy province (Northwest Argentina): Evidence for sex-biased gene flow and genetic drift effects.

OBJECTIVES: This study aimed to explore the diversity of paternal lineages in Jujuy province (Argentina) by analyzing Y chromosome markers. Furthermore, we examined among-population genetic variability based both on paternally (NRY haplotypes) and maternally (mtDNA haplogroups) inherited markers. We sought to evaluate the impact of sex-biased gene flow on genetic background in Jujuy, and contribute data on the microevolutionary forces acting in this zone. METHODS: DNA from 149 males from five Jujuy regions were analyzed for 12 non-recombining Y (NRY) markers. Genetic heterogeneity among Jujuy regions was evaluated through population differentiation tests. To identify potential genetic boundaries in Jujuy, analysis of molecular variance (AMOVA) and the Monmonier's algorithm implemented in the Barrier v2.2 software were employed. RESULTS: A clear divergence between Jujuy highlands and lowlands for NRY haplotypes was found. A marked discrepancy between genetic structuring for paternal lineages and the lack of geographical pattern for mitogenomes was confirmed by all statistical analyses. CONCLUSIONS: Genetic structuring of paternal lineages is most likely caused by admixture processes that have occurred since colonial times in the Jujuy lowlands. Immigrants were predominantly male that settled in the lower altitude zones, due to the steep orography of the region. Input of allochthonous male lineages because of gene flow toward the lowlands would have increased diversity of NRY markers, thus compensating for drift effects. Likewise, limited input of allochthonous mitogenomes would have promoted genetic drift, a key factor in the shaping of diversity of maternal lineages across Jujuy subpopulations, irrespective of altitude.

Study of fingerprints in Argentina population for application in personal identification.

The fingerprints of the Buenos Aires and Chubut provinces in Argentina have been studied, with the aim of knowing and quantifying the variability of these features, which are used in the identification process. The data studied for this research was obtained from 330 individuals, of both sexes, from two Argentinian population samples (170 individuals from Buenos Aires and 160 from Chubut), which amounts to a total of 3300 fingerprints. The different types of minutiae were located, identified, and visually quantified in four areas on the fingerprint. Two perpendicular axes were drawn whose intersection was located in the center of fingerprint. In addition, a circle was defined on these quadrants whose radius cut fifteen ridges. This method divides the fingerprints into four quadrants with two sectors apiece. The results obtained for both populations were compared statistically with those published previously for an Argentinian population sample, which had been collected using the same methodology. Therefore, Argentina becomes the country with the most information in this matter. For both populations, the highest frequencies were of ridge endings, followed by bifurcations and convergences. In this study of minutiae, statistically significant differences were found between the area of the fingerprint (inside and outside the circle), males and females, and types of main pattern for both samples. However, although the results show common patterns in the distribution of minutiae, there are also significant differences between populations. This reveals a significant ancestral and frequency effect of the minutiae, which would indicate that the minutiae are more genetically dependent than has been suspected so far. Furthermore, the non-equiprobability found for the frequency of the types of minutiae indicates that the weight provided by these characteristics is not the same when applied in identification processes, whether used quantitatively (numerical standard) or qualitatively (holistic method).

STR Markers Unveil Microgeographic Differentiation over the Steep Mountainous Landscape of Jujuy Province, Northwest Argentina.

This study explores potential signals of microdifferentiation in the gene pool of three high-altitude populations from Jujuy province in northwest Argentina using highly polymorphic markers. These human communities are characterized by extreme living conditions and very low population densities owing to considerable height above sea level and steep orography. A set of autosomal short tandem repeats (STRs) located at chromosome 6 (6p21.3) was typed in samples from Quebrada Baja (∼2,500 m), Quebrada Alta (∼3,300 m), and Puna (> 3,500 m). Genetic diversity was estimated through the observed and expected heterozygosities and the haplotype diversity. Analyses of the molecular variance (AMOVAs) and population differentiation tests based on allele and haplotype frequencies were performed to assess genetic heterogeneity among subgroups. No deviation from Hardy-Weinberg equilibrium was detected in any subpopulation, yet significant departures were detected in the analysis considering the whole area (D6S2792 and D6S105 loci). Overall, genetic diversity showed a decreasing trend as the altitude increased. Thus, allele and haplotype frequencies showed the most significant differences between Puna and Quebrada Baja, the populations sited at the edges of the altitude range. The trend toward reduction of heterozygosity with altitude is compatible with historical patterns of colonization, interregional migration trends, population density, and genetic admixture. The main consequence of the complex mountainous landscape of Jujuy would be an imbalance in the interplay of gene flow and genetic drift, favoring the latter. The combined effect of restricted gene flow and intense genetic drift would have promoted local genetic differentiation between the Jujuy highland subpopulations, leading to spatial patterning of the allele frequencies not entirely attributable to geographic distance. Our findings corroborate the effectiveness of STRs to identify microevolutionary changes.

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

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.

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

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

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

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

Young Alu insertions within the MHC class I region in native American populations: insights into the origin of the MHC-Alu repeats.

OBJECTIVES: Genetic heterogeneity of two Amerindian populations (Jujuy province, Argentina, and Waorani tribe, Ecuador) was characterized by analyzing data on polymorphic Alu insertions within the human major histocompatibility complex (MHC) class I region (6p21.31), which are completely nonexistent in Native Americans. We further evaluated the haplotype distribution and genetic diversity among continental ancestry groups and their potential implications for the dating of the origin of MHC-Alus. METHODS: Five MHC-Alu elements (AluMicB, AluTF, AluHJ, AluHG, and AluHF) were typed in samples from Jujuy (N = 108) and Waorani (N = 36). Allele and haplotype frequency data on worldwide populations were compiled to explore spatial structuring of the MHC-Alu diversity through AMOVA tests. We utilized the median-joining network approach to illustrate the continental distribution of the MHC-Alu haplotypes and their phylogenetic relationships. RESULTS: Allele and haplotype distributions differed significantly between Jujuy and Waorani. The Waorani featured a low average heterozygosity attributable to strong population isolation. Overall, Alu markers showed great genetic heterogeneity both within and among populations. The haplotype distribution was distinctive of each continental ancestry group. Contrary to expectations, Africans showed the lowest MHC-Alu diversity. CONCLUSIONS: Genetic drift mainly associated to population bottlenecks seems to be reflected in the low MHC-Alu diversity of the Amerindians, mainly in Waorani. Geographical structuring of the haplotype distribution supports the efficiency of the MHC-Alu loci as lineage (ancestry) markers. The markedly low Alu diversity of African populations relative to other continental clusters suggests that these MHC-Alus might have arisen after the anatomically modern humans expanded out of Africa.

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

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

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

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

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

[Infant mortality due to congenital malformations and socioeconomic status: the case of Argentina]. / Mortalidad infantil por malformaciones congénitas y condición socioeconómica: el caso de la Argentina.

OBJECTIVE: Compare the infant mortality rate due to congenital malformations ( IMRCM) and the percentage of deaths due to congenital malformations (%DCM) with sociodemographic and economic characteristics in Argentina. METHODS: The Argentine study population resided in 511 departments of 23 provinces, grouped into five geographic regions (Northwest, Northeast, Central, Cuyo, and Patagonia). The analyzed variables were the IMRCM and the %DCM calculated on the basis of births and deaths during 2002-2006 period. In addition, 21 variables were used from the 2001 Population and Housing Census (National Census and Statistics Institute of Argentina) to construct the Sociodemographic and Economic Indicator (SDEI) through the analysis of principal components. Comparison tests were carried out in order to assess the significant differences among the various regions and the correlations between indicators, and of these with the departmental latitudes and longitudes. RESULTS: There was no significant correlation between the IMRCM and the SDEI, nor with geographic coordinates. However, there was a significant positive correlation between the IMRCM and the SDEI (P < 0.05) at all levels of political organization. The SDEI explained 41% of the %DCM. CONCLUSIONS: The IMRCM was not significantly associated with the country's marked socioeconomic heterogeneity; the highest %DCM values, on the other hand, were observed in the populations of the central and southern areas of the country. Given the relationship between the %DCM and socioeconomic development of the population, use of this indicator as a proxy of well-being and quality of life is suggested.

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

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.

Geographic patterns of genome admixture in Latin American Mestizos.

The large and diverse population of Latin America is potentially a powerful resource for elucidating the genetic basis of complex traits through admixture mapping. However, no genome-wide characterization of admixture across Latin America has yet been attempted. Here, we report an analysis of admixture in thirteen Mestizo populations (i.e. in regions of mainly European and Native settlement) from seven countries in Latin America based on data for 678 autosomal and 29 X-chromosome microsatellites. We found extensive variation in Native American and European ancestry (and generally low levels of African ancestry) among populations and individuals, and evidence that admixture across Latin America has often involved predominantly European men and both Native and African women. An admixture analysis allowing for Native American population subdivision revealed a differentiation of the Native American ancestry amongst Mestizos. This observation is consistent with the genetic structure of pre-Columbian populations and with admixture having involved Natives from the area where the Mestizo examined are located. Our findings agree with available information on the demographic history of Latin America and have a number of implications for the design of association studies in population from the region.

[Prevalence of malnutrition in institutionalized intellectually disabled patients]. / Prevalencia de malnutricion en pacientes con discapacidad intelectual institucionalizados.

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.

Isonymy structure of Buenos Aires city.

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.