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OBJECTIVES: To describe the frequency of hospitalizations of infants under 1 year of age with bronchiolitis in Puerto Madryn, Argentina, and to study the spatial distribution of cases throughout the city in relation to socioeconomic indicators. To visualize and better understand the underlying processes behind the local manifestation of the disease by creating a vulnerability map of the city. METHODS: We performed a cross-sectional study of all patients discharged for bronchiolitis from the local public Hospital in 2017, considering length of hospital stay, readmission rate, patient age, home address and socioeconomic indicators (household overcrowding). To understand the local spatial distribution of the disease and its relationship to overcrowding, we used GIS and Moran's global and local spatial autocorrelation indices. RESULTS: The spatial distribution of bronchiolitis cases was not random, but significantly aggregated. Of the 120 hospitalized children, 100 infants (83.33%) live in areas identified as having at least one unsatisfied basic need (UBN). We found a positive and statistically significant relationship between frequency of cases and percentage of overcrowded housing by census radius. CONCLUSIONS: A clear association was found between bronchiolitis and neighborhoods with UBNs, and overcrowding is likely to be a particularly important explanatory factor in this association. By combining GIS tools, spatial statistics, geo-referenced epidemiological data, and population-level information, vulnerability maps can be created to facilitate visualization of priority areas for development and implementation of more effective health interventions. Incorporating the spatial and syndemic perspective into health studies makes important contributions to the understanding of local health-disease processes.

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Several aspects of past culture, including historical trends, are inferred from time-based patterns observed in archaeological artifacts belonging to different periods. The presence and variation of these objects provides important clues about the Neolithic revolution and given their relative abundance in most archaeological sites, ceramic potteries are significantly helpful in this purpose. Nonetheless, most available pottery is fragmented, leading to missing morphological information. Currently, the reassembly of fragmented objects from a collection of thousands of mixed fragments is a daunting and time-consuming task done almost exclusively by hand, which requires the physical manipulation of the fragments. To overcome the challenges of manual reconstruction and improve the quality of reconstructed samples, we present IberianGAN, a customized Generative Adversarial Network (GAN) tested on an extensive database with complete and fragmented references. We trained the model with 1072 samples corresponding to Iberian wheel-made pottery profiles belonging to archaeological sites located in the upper valley of the Guadalquivir River (Spain). Furthermore, we provide quantitative and qualitative assessments to measure the quality of the reconstructed samples, along with domain expert evaluation with archaeologists. The resulting framework is a possible way to facilitate pottery reconstruction from partial fragments of an original piece.

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Preeclampsia is a multi-organ complication of pregnancy characterized by sudden hypertension and proteinuria that is among the leading causes of preterm delivery and maternal morbidity and mortality worldwide. The heterogeneity of preeclampsia poses a challenge for understanding its etiology and molecular basis. Intriguingly, risk for the condition increases in high-altitude regions such as the Peruvian Andes. To investigate the genetic basis of preeclampsia in a population living at high altitude, we characterized genome-wide variation in a cohort of preeclamptic and healthy Andean families (n = 883) from Puno, Peru, a city located above 3,800 meters of altitude. Our study collected genomic DNA and medical records from case-control trios and duos in local hospital settings. We generated genotype data for 439,314 SNPs, determined global ancestry patterns, and mapped associations between genetic variants and preeclampsia phenotypes. A transmission disequilibrium test (TDT) revealed variants near genes of biological importance for placental and blood vessel function. The top candidate region was found on chromosome 13 of the fetal genome and contains clotting factor genes PROZ, F7, and F10. These findings provide supporting evidence that common genetic variants within coagulation genes play an important role in preeclampsia. A selection scan revealed a potential adaptive signal around the ADAM12 locus on chromosome 10, implicated in pregnancy disorders. Our discovery of an association in a functional pathway relevant to pregnancy physiology in an understudied population of Native American origin demonstrates the increased power of family-based study design and underscores the importance of conducting genetic research in diverse populations.

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Introduction: Cannabis plant uses are widespread across human cultures. The current tendency is to classify Cannabis varieties into chemovars upon their chemical fingerprint, mainly cannabinoids and terpenoids content. The identification of chemovars has important medical implications; however, their pharmacological characterization is costly and time consuming. The goal of this study was to assess whether achene shape variation could be related to Cannabis varieties with contrasting cannabinoid concentrations, as a first approach to chemovar identification. Methods: We used two-dimensional geometric morphometrics (GM) of the achenes and multivariate statistical analysis. We used achenes from five varieties, two from Type II chemotype (expressing both tetrahydrocannabinol [THC] and cannabidiol [CBD]), two Type I (THC-only), and one Type III (CBD-only). Results: The achenes from the different chemotypes were clearly distinguishable. No significant differences between varieties from the same chemotype were observed. The varieties with high THC concentration (Type I) were rounded and bigger, whereas achene from varieties containing only CBD (Type III) had a slender shape with smaller size. Conclusion: Achene shape variation is a potential biomarker of cannabinoid content in the plant flowers. Further studies are needed to confirm the suitability of GM methods for high-throughput screening of Cannabis cultivars, including larger diversity of varieties, and taking into account growth conditions, which can also influence plant chemical fingerprint.

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Vertebral morphology has profound biomechanical implications and plays an important role in adaptation to different habitats and foraging strategies for cetaceans. Extant porpoise species (Phocoenidae) display analogous evolutionary patterns in both hemispheres associated with convergent evolution to coastal versus oceanic environments. We employed 3D geometric morphometrics to study vertebral morphology in five porpoise species with contrasting habitats: the coastal Indo-Pacific finless porpoise (Neophocaena phocaenoides); the mostly coastal harbor porpoise (Phocoena phocoena) and Burmeister's porpoise (Phocoena spinipinnis); and the oceanic spectacled porpoise (Phocoena dioptrica) and Dall's porpoise (Phocoenoides dalli). We evaluated the radiation of vertebral morphology, both in size and shape, using multivariate statistics. We supplemented data with samples of an early-radiating delphinoid species, the narwhal (Monodon monoceros); and an early-radiating delphinid species, the white-beaked dolphin (Lagenorhynchus albirostris). Principal component analyses were used to map shape variation onto phylogenies, and phylogenetic constraints were investigated through permutation tests. We established links between vertebral morphology and movement patterns through biomechanical inferences from morphological presentations. We evidenced divergence in size between species with contrasting habitats, with coastal species tending to decrease in size from their estimated ancestral state, and oceanic species tending to increase in size. Regarding vertebral shape, coastal species had longer centra and shorter neural processes, but longer transverse processes, while oceanic species tended to have disk-shaped vertebrae with longer neural processes. Within Phocoenidae, the absence of phylogenetic constraints in vertebral morphology suggests a high level of evolutionary lability. Overall, our results are in accordance with the hypothesis of speciation within the family from a coastal ancestor, through adaptation to particular habitats. Variation in vertebral morphology in this group of small odontocetes highlights the importance of environmental complexity and particular selective pressures for the speciation process through the development of adaptations that minimize energetic costs during locomotion and prey capture.

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Self-perception of ethnicity is a complex social trait shaped by both, biological and non-biological factors. We developed a comprehensive analysis of ethnic self-perception (ESP) on a large sample of Latin American mestizos from five countries, differing in age, socio-economic and education context, external phenotypic attributes and genetic background. We measured the correlation of ESP against genomic ancestry, and the influence of physical appearance, socio-economic context, and education on the distortion observed between both. Here we show that genomic ancestry is correlated to aspects of physical appearance, which in turn affect the individual ethnic self-perceived ancestry. Also, we observe that, besides the significant correlation among genomic ancestry and ESP, specific physical or socio-economic attributes have a strong impact on self-perception. In addition, the distortion among ESP and genomic ancestry differs across age ranks/countries, probably suggesting the underlying effect of past public policies regarding identity. Our results indicate that individuals' own ideas about its origins should be taken with caution, especially in aspects of modern life, including access to work, social policies, and public health key decisions such as drug administration, therapy design, and clinical trials, among others.

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BACKGROUND AND AIMS: Gallbladder cancer (GBC) is a neglected disease with substantial geographical variability: Chile shows the highest incidence worldwide, while GBC is relatively rare in Europe. Here, we investigate the causal effects of risk factors considered in current GBC prevention programs as well as C-reactive protein (CRP) level as a marker of chronic inflammation. APPROACH AND RESULTS: We applied two-sample Mendelian randomization (MR) using publicly available data and our own data from a retrospective Chilean and a prospective European study. Causality was assessed by inverse variance weighted (IVW), MR-Egger regression, and weighted median estimates complemented with sensitivity analyses on potential heterogeneity and pleiotropy, two-step MR, and mediation analysis. We found evidence for a causal effect of gallstone disease on GBC risk in Chileans (P = 9 × 10-5 ) and Europeans (P = 9 × 10-5 ). A genetically elevated body mass index (BMI) increased GBC risk in Chileans (P = 0.03), while higher CRP concentrations increased GBC risk in Europeans (P = 4.1 × 10-6 ). European results suggest causal effects of BMI on gallstone disease (P = 0.008); public Chilean data were not, however, available to enable assessment of the mediation effects among causal GBC risk factors. CONCLUSIONS: Two risk factors considered in the current Chilean program for GBC prevention are causally linked to GBC risk: gallstones and BMI. For Europeans, BMI showed a causal effect on gallstone risk, which was itself causally linked to GBC risk.

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Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10-6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10-10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.

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BACKGROUND: The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence. METHODS: This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication. RESULTS: Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low. CONCLUSION: Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.

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OBJECTIVES: The diagnosis and treatment of obesity are usually based on traditional anthropometric variables including weight, height, and several body perimeters. Here we present a three-dimensional (3D) image-based computational approach aimed to capture the distribution of abdominal adipose tissue as an aspect of shape rather than a relationship among classical anthropometric measures. METHODS: A morphometric approach based on landmarks and semilandmarks placed upon the 3D torso surface was performed in order to quantify abdominal adiposity shape variation and its relation to classical indices. Specifically, we analyzed sets of body cross-sectional circumferences, collectively defining each, along with anthropometric data taken on 112 volunteers. Principal Component Analysis (PCA) was performed on 250 circumferences located along the abdominal region of each volunteer. An analysis of covariance model was used to compare shape variables (PCs) against anthropometric data (weight, height, and waist and hip circumferences). RESULTS: The observed shape patterns were mainly related to nutritional status, followed by sexual dimorphism. PC1 (12.5%) and PC2 (7.5%) represented 20% of the total variation. In PCAs calculated independently by sex, linear regression analyses provide statistically significant associations between PC1 and the three classical indexes: body mass index, waist-to-height ratio, and waist-hip ratio. CONCLUSION: Shape indicators predict well the behavior of classical markers, but also evaluate 3D and geometric features with more accuracy as related to the body shape under study. This approach also facilitates diagnosis and follow-up of therapies by using accessible 3D technology.

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