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

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

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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.

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

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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.

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

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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.

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RESUMEN Introducción: Las enfermedades cardiovasculares son la principal causa de discapacidad y muerte a nivel global. El riesgo cardiovascular (RC) total es la probabilidad de tener un evento cardiovascular en un período definido y está determinado por el efecto combinado de los factores de riesgo. Objetivos: Estimar el RC y describir su distribución en la Argentina en 2018. Materiales y métodos: Se analizaron 11 450 individuos mayores de 30 años provenientes de la 4° ENFR. Se realizó la estimación y calibración del RC global bajo las ecuaciones del estudio Framingham y se clasificó a los individuos en los siguientes tres grupos: RC óptimo (<5,9%), RC moderado (6 a 19,9%) y RC alto (>20%). Se estimaron prevalencias e intervalos de credibilidad bayesianos (ICB) bajo distribución beta prior no informativa. Resultados: A nivel nacional, el 60,6% de los individuos presentaron RC moderado/alto. El RC moderado por región se distribuyó de manera homogénea. Al analizar los RC extremos, las regiones metropolitana (47,6%) y pampeana (28,6%) presentaron las prevalencias más elevadas de RC alto. La mayor prevalencia del RC óptimo se encontró en la región Patagonia, seguido del Noroeste, Noreste y Cuyo, todas estas fueron superiores al 40%. Por provincia, las prevalencias más elevadas de RC alto se presentaron en Buenos Aires (49,9%) y CABA (45,7%). En todos los niveles, las prevalencias de RC moderado/alto son muy superiores en varones, con excepción de la región metropolitana. Conclusiones: Las diferencias geográficas posicionan a la región metropolitana como la de mayor RC debido a la alta prevalencia de RC alto y moderado. Los hombres presentaron una prevalencia de RC alto hasta 4 veces superior a la registrada en mujeres.

ABSTRACT Background: Cardiovascular diseases are the main cause of disability and death globally. Total cardiovascular risk (CR) is the probability of having a cardiovascular event in a defined period and is determined by the combined effect of risk factors. Objectives: The aim of this study was to estimate CR and describe its distribution in Argentina in 2018. Methods: Cardiovascular risk was analyzed in 11,450 individuals over 30 years of age from the 4th National Risk Factor Survey (NRFS). The Framingham risk equations used to estimate and calibrate global CR classified the individuals into the following three groups: optimum CR (<5.9%), moderate CR (6 to 19.9%) and high CR (>20%). Bayesian prevalence and credibility intervals (BCI) were estimated under the non-informative beta prior distribution. Results: Nationally, 60.6% of the individuals presented moderate/high CR. Moderate CR by region was distributed homogeneously. When analyzing extreme CRs, the metropolitan (47.6%) and Pampean (28.6%) regions presented the greatest incidence of high CR. The highest prevalence of optimum CR was found in the Patagonian region, followed by the Northwest, Northeast and Cuyo, all above 40%. The analysis by province showed that the greatest incidence of high CR was found in Buenos Aires (49.9%) and CABA (45.7%). At all levels, the prevalence of moderate/high CR is much higher in men, with the exception of the metropolitan region. Conclusions: Geographical differences position the metropolitan region as the one with maximum CR due to the great incidence of high and moderate CR. Prevalence of high CR in men is almost 4 times greater than that registered in women.

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BACKGROUND: Epidemiological studies have suggested an inverse association between circulating levels of vitamin D and cardiovascular disease risk biomarkers, including an atherogenic lipid profile. OBJECTIVE: To compare the prevalence and the distribution of lipid levels among vitamin D supplemented Argentinean indigenous San Antonio de los Cobres (SAC) children with a nonsupplemented Buenos Aires (BA) mixed population group. METHODS: A group of indigenous children from SAC with hypovitaminosis D supplemented with vitamin D; and a nonsupplemented group from a BA mixed population were compared via a cross sectional study. Anthropometric measures, glucose, lipids, vitamin D, and insulin were measured. RESULTS: The mean ages were 10.3 + 2.3 in SAC and 8.7 ± 1.8 years in BA children. There was a lower prevalence of overweight 7.9%(15/192) vs 17.8% (23/129); and of obesity 1.6% (3/192) vs 30.2% (39/129) in SAC vs. BA respectively. Approximately half of the SAC children versus 30% from BA had optimal vitamin D levels (≥30ng/mL). There was a significantly higher prevalence of high triglycerides (TG) (27.6%vs 4.6%) and low HDL-C (21.3% vs 5.4%) in SAC vs BA children, respectively. In separate linear regression models, we found that despite effective vitamin D repletion, SAC children had higher TG and TG/HDL-C values, whereas HDL-C levels were lower than those of BA children adjusted for age, gender, BMI, and insulin levels. CONCLUSION: Indigenous Argentinean children have a higher risk for dyslipidemia in comparison with BA children, even after vitamin D treatment, suggesting that dyslipidemia could be related to diet or ethnic backgrounds.

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OBJECTIVE: To determine whether vitamin D supplementation improves non-traditional cardiovascular risk factors such as Apo B levels among indigenous children. METHODS: A prospective two-year study evaluated a treated cohort of 190 children (104 males) aged 9.4+ 2.2 years. Children were divided into group A (n=104; 54.7%) and group B (n=86; 45.3%). Both groups received vitamin D supplementation with 100,000 u/year; group B was treated in 2013 and group A in 2014. All subjects were evaluated at the end of each treatment and anthropometric measures, lipids and vitamin D levels between the two groups were compared. RESULTS: Changes in vitamin D levels were significantly higher in Group A, which was supplied in 2014, than in group B, which was not supplied in 2014 (6.8 vs 0.96 ng/dL; respectively). Levels of LDL-C and Apo B were improved in group A versus B: LDL-C (-5.7 vs 6.9 mg/dL respectively) and Apo B (-0.9 vs 11. mg/dL respectively). Several multiple regression linear analyses showed that changes in vitamin D were significantly associated with lower LDL-C levels (Beta- 0.41, p<0.01; R2 0.07); and with lower Apo B levels (Beta-0.37, p<0.01; R2 0.17). CONCLUSION: Vitamin D supplementation among indigenous children could improve Apo B levels.

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Presentación del caso de un paciente masculino que ingresa al servicio de guardia presentando hernia diafragmática izquierda, con cuadro clínico compatible con oclusión intestinal y antecedente de lesión por proyectil de arma de fuego en hemitórax izquierdo hace 8 años. Al cual se le realizan como procedimientos terapéuticos en forma sucesiva, colostomía transversa en asa, luego toracotomía / reparación del defecto herniario y por ultimo cierre de colostomía.(AU)

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Presentación del caso de un paciente masculino que ingresa al servicio de guardia presentando hernia diafragmática izquierda, con cuadro clínico compatible con oclusión intestinal y antecedente de lesión por proyectil de arma de fuego en hemitórax izquierdo hace 8 años. Al cual se le realizan como procedimientos terapéuticos en forma sucesiva, colostomía transversa en asa, luego toracotomía / reparación del defecto herniario y por ultimo cierre de colostomía.

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La telemonitorización (home monitoring) establece un puente entre el clínico y el paciente por medio de nuevas tecnologías de comunicación. Las aplicaciones actuales de las telemonitorizaciones cardiológicas son: seguimiento continuo de pacientes en insuficiencia cardíaca (medición de frecuencia cardíaca, oximetría, presiones intracardíacas e impedancia pulmonar para diagnosticar edema), monitorización del funcionamiento de marcapasos y desfibriladores, monitorización de tratamientos farmacológicos de la hipertensión pulmonar, seguimiento de pacientes con apnea del sueño, prevención de la muerte súbita infantil y monitorización de pacientes portadores de prótesis valvulares cardíacas. La monitorización telefónica o a través de Internet es simple y no requiere ningún equipo excepcional en los hogares. Nuestro grupo investiga la aplicación de las tecnologías de RADAR en la monitorización cardiológica. La home monitoring tiene el potencial para ser aplicada en grandes poblaciones de pacientes y ser integrada en los sistemas actuales de asistencia médica. El objetivo final es mejorar los resultados de los tratamientos actuales y disminuir los gastos de salud.

Telemonitoring (home monitoring) builds bridges between clinicians and patients with communication technology. Telemonitoring in Cardiology is currently applied in the following situations: follow-up of patients with heart failure (by measuring heart rate, pulse oximetry, intracardiac pressures and pulmonary impedance for diagnosis of pulmonary edema), assessment of pacemaker and implantable cardiodefibrillator function, monitoring of patients with pulmonary hypertension who are receiving long-term treatment with new drugs, follow-up of patients with sleep apnea, prevention of sudden infant death syndrome, and monitoring of patients with heart valve prosthesis. Trans-telephonic or Internet Monitoring are simple approaches which do not need any extraordinary devices at home. Our team is currently investigating the use of RADAR technology for telemonitoring in Cardiology. Home monitoring has the potential for widespread implementation as it can be easily applied to large patient populations and integrated into the current medical care systems. The final objective is to improve the outcomes of current treatments and to reduce the costs of health care.