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e report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value

Ethics. Human subjects: All cohort participants gave written informed consent and consent to publish. Ethical approvals were provided for the Rotterdam Study according to the Population Study Act Rotterdam Study (Wet Bevolkingsonderzoek ERGO) executed by the Ministry of Health, Welfare and Sports of the Netherlands, for the TwinsUK study by the St. Thomas’ Hospital Local Research Ethics Committee, for the QIMR study by the Queensland Institute of Medical Research Human Research Ethics Committee, and...

Biodentine (BD) is a bioactive material with many indications in endodontic therapy. The purpose of this study was to compile and review the outcomes of in vitro and in vivo studies of BD in terms of antimicrobial effectiveness. An electronic search was carried out in PubMed, from January 2009-April 2021 using the keywords: (Biodentine or dentine substitute or "Ca

Dental caries is the major biofilm-mediated oral disease in the world. The main treatment to restore caries lesions consists of the use of adhesive resin composites due to their good properties. However, the progressive degradation of the adhesive in the medium term makes possible the proliferation of cariogenic bacteria allowing secondary caries to emerge. In this study, a dental adhesive incorporating a drug delivery system based on L-arginine-containing mesoporous silica nanoparticles (MSNs) was used to release this essential amino acid as a source of basicity to neutralize the harmful acidic conditions that mediate the development of dental secondary caries. The in vitro and bacterial culture experiments proved that L-arginine was released in a sustained way from MSNs and diffused out from the dental adhesive, effectively contributing to the reduction of the bacterial strains Streptococcus mutans and Lactobacillus casei. Furthermore, the mechanical and bonding properties of the dental adhesive did not change significantly after the incorporation of L-arginine-containing MSNs. These results are yielding glimmers of promise for the cost-effective prevention of secondary caries. Graphical Abstract

There is a need to explore new alternatives for root canal disinfection in regenerative endodontics, since the current strategies are far from ideal. Currently, the potential use of diclofenac (DC) is being investigated for controlling root canal infections. The objective was to evaluate the antimicrobial efficacy of novel DC-based hydrogels (DCHs) against polymicrobial biofilms grown in radicular dentine and root canals and to compare results with triantibiotic (TAH) and diantibiotic (DAH) hydrogels, and calcium hydroxide (Ca[OH]The in vitro antimicrobial activity of intracanal medicaments was evaluated against 3-week-old polymicrobial root canal biofilms grown on human radicular dentine. Dentine samples were obtained and randomly divided into the study groups (n = 4/group): (1) 1 mg/ml TAH; (2) 1 mg/ml DAH; (3) 5% diclofenac (DCH); (4) 2.5% DCH; (5) 1.25% DCH; (6) 1 mg/ml DAH + 5% DCH; (7) Ca(OH)Confocal scanning laser microscopy analysis indicated that the greatest effectiveness was obtained with 5% DCH, showing significant differences with respect to the other groups (p .001). In root canals, the highest LogSodium DC hydrogels demonstrate antimicrobial efficacy against endodontic biofilms.

Dental caries is the major biofilm-mediated oral disease in the world. The main treatment to restore the caries lesions consist of the use of adhesive resin composites due to their good properties. However, the progressive degradation of the adhesive in the medium term makes possible the proliferation of cariogenic bacteria allowing secondary caries to emerge. In this study, a dental adhesive incorporating a drug delivery system based on L-arginine-containing mesoporous silica nanoparticles (MSNs) was used to release this essential amino acid as a source of basicity to neutralise the harmful acidic conditions that mediate in the development of dental secondary caries. The in vitro and bacteria culture experiments proved that L-arginine was released in a sustained way from MSNs and diffused out from the dental adhesive, and effectively contributing to the reduction of the bacterial strains Streptococcus mutans and Lactobacillus casei. Furthermore, the mechanical and bonding properties of the dental adhesive did not change significantly after the incorporation of L-arginine-containing MSNs. These results are yielding glimmers of promise for the cost-effective prevention of secondary caries.

Dental size variation in modern humans has been assessed from regional to worldwide scales, especially under microevolutionary and forensic contexts. Despite this, populations of mixed continental ancestry such as contemporary Latin Americans remain unexplored. In the present study we investigated a large Latin American sample from Colombia (N = 804) and obtained buccolingual and mesiodistal diameters and three indices for maxillary and mandibular teeth (except third molars). We evaluated the correlation between 28 dental measurements (and three indices) with age, sex and genomic ancestry (estimated using genome-wide SNP data). In addition, we explored correlation patterns between dental measurements and the biological affinities, based on these measurements, between two Latin American samples (Colombians and Mexicans) and three putative parental populations: Central and South Native Americans, western Europeans and western Africans through PCA and DFA. Our results indicate that Latin Americans have high dental size diversity, overlapping the variation exhibited by the parental populations. Several dental dimensions and indices have significant correlations with sex and age. Western Europeans presented closer biological affinities with Colombians, and the European genomic ancestry exhibited the highest correlations with tooth size. Correlations between tooth measurements reveal distinct dental modules, as well as a higher integration of postcanine dentition. The effects on dental size of age, sex and genomic ancestry is of relevance for forensic, biohistorical and microevolutionary studies in Latin Americans.

Background: Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) in non-Europeans. - Objectives: To conduct a GWAS for facial skin ageing and mole count in adults

BackgroundA strong association between the proportion of Native American ancestry and the risk of gallbladder cancer (GBC) has been reported in observational studies. Chileans show the highest incidence of GBC worldwide, and the Mapuche are the largest Native American people in Chile. We set out to investigate the causal association between Native American Mapuche ancestry and GBC risk, and the possible mediating effects of gallstone disease and body mass index (BMI) on this association.MethodsMarkers of Mapuche ancestry were selected based on the informativeness for assignment measure and then used as instrumental variables in two-sample mendelian randomization (MR) analyses and complementary sensitivity analyses.ResultWe found evidence of a causal effect of Mapuche ancestry on GBC risk (inverse variance-weighted (IVW) risk increase of 0.8% for every 1% increase in Mapuche ancestry proportion, 95% CI 0.4% to 1.2%, p = 6.6×10-5). Mapuche ancestry was also causally linked to gallstone disease (IVW risk increase of 3.6% per 1% increase in Mapuche proportion, 95% CI 3.1% to 4.0%, p = 1.0×10-59), suggesting a mediating effect of gallstones in the relationship between Mapuche ancestry and GBC. In contrast, the proportion of Mapuche ancestry showed a negative causal effect on BMI (IVW estimate -0.006 kg/m2 per 1% increase in Mapuche proportion, 95% CI -0.009 to -0.003, p = 4.4×10-5).ConclusionsThe results presented here may have significant implications for GBC prevention and are important for future admixture mapping studies. Given that the association between Mapuche ancestry and GBC risk previously noted in observational studies appears to be causal, primary and secondary prevention strategies that take into account the individual proportion of Mapuche ancestry could be particularly efficient.

We report a genome-wide association study for facial features in > 6,000 Latin Americans. We placed 106 landmarks on 2D frontal photographs using the cloud service platform Face++. After Procrustes superposition, genome-wide association testing was performed for 301 inter-landmark distances. We detected nominally significant association (P-value − 8) for 42 genome regions. Of these, 9 regions have been previously reported in GWAS of facial features. In follow-up analyses, we replicated 26 of the 33 novel regions (in East Asians or Europeans). The replicated regions include 1q32.3, 3q21.1, 8p11.21, 10p11.1, and 22q12.1, all comprising strong candidate genes involved in craniofacial development. Furthermore, the 1q32.3 region shows evidence of introgression from archaic humans. These results provide novel biological insights into facial variation and establish that automatic landmarking of standard 2D photographs is a simple and informative approach for the genetic analysis of facial variation, suitable for the rapid analysis of large population samples.

To evaluate in a laboratory setting the antibiofilm activity of several irrigating protocols including conventional irrigation, ultrasonic activation and XP-endo Finisher, with a mixture of sodium hypochlorite and etidronic acid in infected isthmuses and root canals of extracted human mandibular molar teeth.Fifty-six mesial roots of mandibular molars, half of them with a continuous isthmus from the cervical to the apical third between the two root canals (type 1), and the other half with a continuous isthmus from the cervical to the middle third and one canal in the apical third (type 2), were included. The root canals were contaminated for 7 days with an Enterococcus faecalis suspension. There were three experimental groups plus a control group (n = 7 per type of root canal anatomy). All the root canals, except for the control group that was not treated, were chemomechanically prepared and then assigned to one of the experimental groups according to the final adjunctive procedure: conventional irrigation, ultrasonic activation or XP-endo Finisher activation. The irrigating solution used was a combination of 2.5% sodium hypochlorite and 9% etidronic acid, and the final protocols were applied for three cycles of 30 s with a 3 mL volume. The antibiofilm activity was evaluated at each location (root canal and isthmus) and third (cervical, middle and apical) using confocal laser scanning microscopy and the live/dead technique. Statistical analysis was performed using SPSS (descriptive statistics) and SUDAAN (P-value calculations).Root canals had significantly lower biovolume values than the isthmuses (P 0.05). The biovolume in the root canals was significantly reduced in all the experimental groups in all the thirds except for conventional irrigation in the apical third (P 0.05). In the cervical and middle thirds, ultrasonic activation was associated with the lowest biovolumes (P 0.05), followed by XP-endo Finisher. In the isthmus, disinfection was similar in all the thirds for all the protocols. Conventional irrigation was associated with intermediate values with no significant differences from the control group or from the activated protocols (P 0.05), although the latter were significantly different from the control group (P 0.05). No differences were found between ultrasonic activation and XP-endo Finisher in the middle and apical thirds (P 0.05) in the isthmuses.In this laboratory study on extracted teeth, the isthmus was more difficult to disinfect than root canals. In the root canals, ultrasonic activation and XP-endo Finisher had a greater effectiveness than conventional irrigation. In the isthmuses, no differences were observed between the two activation techniques and conventional irrigation.

Long noncoding RNAs (lncRNAs) play key roles in cell processes and are good candidates for cancer risk prediction. Few studies have investigated the association between individual genotypes and lncRNA expression. Here we integrate three separate datasets with information on lncRNA expression only, both lncRNA expression and genotype, and genotype information only to identify circulating lncRNAs associated with the risk of gallbladder cancer (GBC) using robust linear and logistic regression techniques. In the first dataset, we preselect lncRNAs based on expression changes along the sequence “gallstones → dysplasia → GBC”. In the second dataset, we validate associations between genetic variants and serum expression levels of the preselected lncRNAs (cis-lncRNA-eQTLs) and build lncRNA expression prediction models. In the third dataset, we predict serum lncRNA expression based on individual genotypes and assess the association between genotype-based expression and GBC risk. AC084082.3 and LINC00662 showed increasing expression levels (p-value = 0.009), while C22orf34 expression decreased in the sequence from gallstones to GBC (p-value = 0.04). We identified and validated two cis-LINC00662-eQTLs (r2 = 0.26) and three cis-C22orf34-eQTLs (r2 = 0.24). Only LINC00662 showed a genotyped-based serum expression associated with GBC risk (OR = 1.25 per log2 expression unit, 95% CI 1.04–1.52, p-value = 0.02). Our results suggest that preselection of lncRNAs based on tissue samples and exploitation of cis-lncRNA-eQTLs may facilitate the identification of circulating noncoding RNAs linked to cancer risk.

En las últimas décadas se ha sugerido una asociación entre la esplenectomía y el desarrollo de estados protrombóticos. Estos pacientes pueden tener un mayor riesgo de episodios tromboembólicos venosos, incluida la embolia pulmonar. La mayoría de los casos notificados son de pacientes con afecciones hematológicas que pueden ser factores de confusión debido al aumento del riesgo protrombótico. Además, la cirugía después de una lesión abdominal traumática puede ser un factor relevante en el tromboembolismo como complicación médica temprana. Se presenta el caso de un hombre de 48 años con antecedente de esplenectomía traumática hace 22 años, que acudió al servicio de urgencias con un cuadro de un año de disnea durante el ejercicio, fatiga y presíncope. Durante los últimos dos meses experimentó empeoramiento de la disnea y la tos. La tomografía computarizada con contraste mostró una embolia pulmonar aguda extensa y la ecocardiografía transesofágica mostró un ventrículo derecho dilatado con alta probabilidad de hipertensión arterial pulmonar. Fue dado de alta con warfarina y oxigenoterapia. A los cuatro meses el ecocardiograma mostró persistencia de signos indirectos de hipertensión pulmonar. La gammagrafía de perfusión demostró persistencia de embolia pulmonar en el segmento apical posterior del lóbulo superior izquierdo y segmento apical del lóbulo superior derecho. Fue sometido a cateterismo cardíaco derecho que mostró hipertensión pulmonar tromboembólica crónica. En el seguimiento presentó mejoría de los síntomas. La anticoagulación se continuó indefinidamente. Los pacientes esplenectomizados tienen una mayor incidencia de eventos trombóticos venosos y potencialmente podrían tener un mayor riesgo de desarrollar hipertensión pulmonar tromboembólica crónica.

Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.

Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable anthropometric variability, ancestry proportions, and high burden of growth stunting and overweight/obesity. To address this knowledge gap, we analyzed densely imputed genetic data in a sample of Hispanic/Latino adults to identify and fine-map genetic variants associated with body mass index (BMI), height, and BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted a GWAS of 18 studies/consortia as part of the Hispanic/Latino Anthropometry (HISLA) Consortium (stage 1, n = 59,771) and generalized our findings in 9 additional studies (stage 2, n = 10,538). We conducted a trans-ancestral GWAS with summary statistics from HISLA stage 1 and existing consortia of European and African ancestries. In our HISLA stage 1 + 2 analyses, we discovered one BMI locus, as well as two BMI signals and another height signal each within established anthropometric loci. In our trans-ancestral meta-analysis, we discovered three BMI loci, one height locus, and one WHRadjBMI locus. We also identified 3 secondary signals for BMI, 28 for height, and 2 for WHRadjBMI in established loci. We show that 336 known BMI, 1,177 known height, and 143 known WHRadjBMI (combined) SNPs demonstrated suggestive transferability (nominal significance and effect estimate directional consistency) in Hispanic/Latino adults. Of these, 36 BMI, 124 height, and 11 WHRadjBMI SNPs were significant after trait-specific Bonferroni correction. Trans-ancestral meta-analysis of the three ancestries showed a small-to-moderate impact of uncorrected population stratification on the resulting effect size estimates. Our findings demonstrate that future studies may also benefit from leveraging diverse ancestries and differences in linkage disequilibrium patterns to discover novel loci and additional signals with less residual population stratification.

Facial morphology, the most conspicuous feature of human appearance, is highly heritable. Previous studies on the genetic basis of facial morphology were mainly performed in European populations. Applying a proven data-driven phenotyping and multivariate genome-wide scanning protocol to the largest collection of 3D facial images of an East Asian population to date, we identified 244 leading variants associated with normal-range facial variation, of which 130 are novel. A newly proposed polygenic shape analysis indicates that the effects of the variants on East Asian facial shape can be generalized into the European population. Based on this analysis, we further identified 13 variants mainly related to differences between European and East Asian facial shape. Natural selection analyses suggest that the difference in European and East Asian nose shape is caused by a directional selection, mainly due to a local adaptation in Europeans. Our results expand the knowledge of human facial genetics and illustrates for the first time the underlying genetic basis for facial differences across populations.

OBJECTIVES The objectives of this study are to investigate, over time, the antimicrobial activity against polymicrobial biofilms and ability to inhibit biofilm formation, of Biodentine (BD) alone and with 5% and 10% sodium diclofenac (DC). MATERIAL AND METHODS The antimicrobial activity of BD alone and modified with 5% and 10% DC against polymicrobial biofilm growth in dentin was determined by a modified direct contact test. The study groups were (1) BD; (2) BD + 5% DC; and (3) BD + 10% DC. The viability of microorganisms after 1 and 4 weeks was quantified by means of an ATP assay and flow cytometry. The antibiofilm efficacy of the materials, preventing polymicrobial biofilm formation over time, was assessed by confocal laser scanning microscopy (CLSM). RESULTS The results obtained with both the ATP test and flow cytometry showed that BD alone and with 5% and 10% DC exerted antibiofilm activity with respect to the control, in the two evaluated times (p

Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite notable anthropometric variability with ancestry proportions, and a high burden of growth stunting and overweight/obesity in Hispanic/Latino populations. This address this knowledge gap, we analyzed densely-imputed genetic data in a sample of Hispanic/Latino adults, to identify and fine-map common genetic variants associated with body mass index (BMI), height, and BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted a GWAS of 18 studies/consortia as part of the Hispanic/Latino Anthropometry (HISLA) Consortium (Stage 1, n=59,769) and validated our findings in 9 additional studies (HISLA Stage 2, n=9,336). We conducted a trans-ethnic GWAS with summary statistics from HISLA Stage 1 and existing consortia of European and African ancestries. In our HISLA Stage 1+2 analyses, we discovered one novel BMI locus, as well two novel BMI signals and another novel height signal, each within established anthropometric loci. In our trans-ethnic meta- analysis, we identified three additional novel BMI loci, one novel height locus, and one novel WHRadjBMI locus. We also identified three secondary signals for BMI, 28 for height, and two for WHRadjBMI. We replicated >60 established anthropometric loci in Hispanic/Latino populations at genome-wide significance—representing up to 30% of previously-reported index SNP anthropometric associations. Trans-ethnic meta-analysis of the three ancestries showed a small-to-moderate impact of uncorrected population stratification on the resulting effect size estimates. Our novel findings demonstrate that future studies may also benefit from leveraging differences in linkage disequilibrium patterns to discover novel loci and additional signals with less residual population stratification.

Antecedentes: Helicobacter pylori (H. pylori) afecta a 50% de la humanidad. Los tratamientos usuales han disminuido su eficacia por aumento de la resistencia a los antibióticos, excepto: amoxicilina, tetraciclina, furazolidona y bismuto. Recientemente hay un nuevo interés en la terapia dual con altas dosis de inhibidores de bomba de protones (IBP) y amoxicilina como terapia inicial y como rescate. En nuestro medio no hay estudios al respecto. Objetivo: determinar la eficacia de la terapia dual con altas dosis de IBP y amoxicilina para erradicar H. pylori. Material y métodos: estudio cuasiexperimental realizado entre diciembre de 2019 y julio de 2020 en mayores de 18 años, con H. pylori identificado histológicamente. Todos recibieron esomeprazol 40 mg media hora antes de desayuno, almuerzo y cena mas amoxicilina 1 gramo oral cada 8 horas por 14 días. La erradicación se determinó con antígenos fecales (OnSiteTM H. pylori Biotech Inc) después de cuatro semanas del tratamiento. Resultados: se incluyeron 108 pacientes, con edad promedio de 67 años, 70% mujeres. La erradicación por protocolo (PP) e intención de tratar (ITT) fue de 86% (IC95% 79.4-92.5%) para ambos. En los pacientes con tratamiento previo (26%) la eficacia fue de 85.7% (IC95% 71.8-99.5%). Los eventos adversos fueron leves en 31%, especialmente náuseas (16%) y distensión abdominal (14%). En ninguno se suspendió el tratamiento. Conclusión: la terapia dual es eficaz, fácil de administrar y con pocos efectos adversos. Sería una buena opción en nuestro medio como terapia inicial y como rescate. Se requieren estudios más grandes para verificar nuestros resultados.

In a previous work, we found linkage and association of type 1 diabetes (T1D) to a 12 known gene region at chromosome 2p25 in Colombian families. Here, we present further work on this candidate region. Seventeen SNPs located on the 12 candidate genes, in 100 familial trios set, were tested by ARMS–tetraprimer–PCR or PCR–RFLP. Five extra SNPs in the vicinity of rs10186193 were typed. A replica phase included 97 novel familial trios, in whom diabetes-related auto-antibodies (AABs) were tested in sera of the patients. In addition to transmission disequilibrium tests, haplotype analyses were carried out using the unphased software. SNP rs10186193 (at RNASEH1 gene) showed association with T1D (P = 0.005). The additional five SNPs revealed that rs7607888 (P = 2.03 × 10−7), rs55981318 (P = 0.018), and rs1136545 (P = 1.93 × 10−9) were also associated with T1D. Haplotype analysis showed association for rs55981318–rs10186193 (P = 0.0005), rs7563960–rs7607888 (P = 0.0007), rs7607888–rs1136545 (P = 9.21 × 10−10), and rs1136545–rs11538545 (P = 6.67 × 10−8). In contrast, the new set of 97 familial trios tested for SNPs rs55981318, rs10186193, and rs7607888 did not support the previous finding; however, by combining the sample (197 trios), evidence of association of T1D with rs55981318 and rs7607888 was conclusive. In addition, a two-loci haplotype analysis of the combined sample showed significant association of RNASEH1 with T1D (P = 3.1 × 10−5). In conclusion, our analyses suggest that RNASEH1 gene variants associate with susceptibility/protection to T1D in Colombia.

The purpose of this study was to test the antimicrobial activity and the smear layer removal of different irrigation protocols-sodium hypochlorite (NaOCl), NaOCl followed by ethylenediaminetetraacetic acid (EDTA), and NaOCl combined with etidronic acid (HEBP)-against infected dentine tubules during root canal preparation. Single rooted premolars contaminated with Enterococcus faecalis were chemomechanically prepared. Depending on the irrigation protocols, the roots were divided into the following groups: (1) distilled water during and after instrumentation; (2) 2.5% NaOCl during and after instrumentation; (3) 2.5% NaOCl/9% HEBP during and after instrumentation; and (4) 2.5% NaOCl during instrumentation followed by 17% EDTA after instrumentation. The percentage of dead cells and the biovolume in infected dentine tubules were measured using confocal laser scanning microscopy and the live/dead technique. Smear layer removal on root canal wall surfaces was observed by means of scanning electron microscopy. Results were compared through parametric tests (p .05). The groups NaOCl, NaOCl/HEBP, and NaOCl+EDTA exerted the highest antimicrobial activity (p .05), followed by the group irrigated with water. All the irrigation protocols-including water-significantly reduced the bacteria biovolume. No dentine tubules free of smear layer were found in the positive control or the 2.5% NaOCl group. With NaOCl/HEBP and NaOCl+EDTA, respectively, 90.41% ± 7.33 and 76.54% ± 15.30 of dentine tubules were free of smear layer (p = .01). NaOCl/HEBP and NaOCl+EDTA exerted an important antimicrobial activity against bacteria inside dentine tubules, lowering the bacteria biovolume and eliminating a high amount of the smear layer, particularly in the NaOCl/HEBP group.

We report an evaluation of prediction accuracy for eye, hair and skin pigmentation based on genomic and phenotypic data for over 6,500 admixed Latin Americans (the CANDELA dataset). We examined the impact on prediction accuracy of three main factors: (i) The methods of prediction, including classical statistical methods and machine learning approaches, (ii) The inclusion of non-genetic predictors, continental genetic ancestry and pigmentation SNPs in the prediction models, and (iii) Compared two sets of pigmentation SNPs: the commonly-used HIrisPlex-S set (developed in Europeans) and novel SNP sets we defined here based on genome-wide association results in the CANDELA sample. We find that Random Forest or regression are globally the best performing methods. Although continental genetic ancestry has substantial power for prediction of pigmentation in Latin Americans, the inclusion of pigmentation SNPs increases prediction accuracy considerably, particularly for skin color. For hair and eye color, HIrisPlex-S has a similar performance to the CANDELA-specific prediction SNP sets. However, for skin pigmentation the performance of HIrisPlex-S is markedly lower than the SNP set defined here, including predictions in an independent dataset of Native American data. These results reflect the relatively high variation in hair and eye color among Europeans for whom HIrisPlex-S was developed, whereas their variation in skin pigmentation is comparatively lower. Furthermore, we show that the dataset used in the training of prediction models strongly impacts on the portability of these models across Europeans and Native Americans.

Introduction The aim of this study was to compare the antibiofilm effects of a triple antibiotic solution (TAS); a double antibiotic solution (DAS); and 5%, 2.5%, and 1.25% diclofenac solutions (DCSs) against Enteroccocus faecalis biofilm. Methods Eighty-four sterile radicular dentin blocks were used as biofilm substrate for 3 weeks. The study groups were as follows: (1) 1 mg/mL TAS (minocycline, metronidazole, and ciprofloxacin), (2) 1 mg/mL DAS (metronidazole and ciprofloxacin), (3) 5% DCS, (4) 2.5% DCS, (5) 1.25% DCS, and (6) 0.9% saline solution. The antimicrobial activity was evaluated by bacterial count determinations and confocal laser scanning microscopy. The contact time for the antimicrobial tests was 5 minutes. Bacterial counts were expressed as the reduction percentage of colony-forming units; for the confocal laser scanning microscopic evaluation, the log10 total biovolume and percentage of green population (live cells) were calculated. Results The colony-forming unit reduction percentage ranged between 62.98 and 98.62, respectively, for TAS and 5% DCS. The DCS showed a concentration-dependent effect.For the confocal laser scanning microscopy, the log10 total biovolume in all groups was very similar and showed a scarce (1.39–1.02) but significant reduction with respect to the control; 5% and 2.5% DCSs gave the lowest viable cell percentage. The TAS and DAS groups showed intermediate values without significant differences between them. Conclusions DCSs at 5% and 2.5% have greater antimicrobial effects than TAS and DAS and may be considered a valid alternative for controlling the infection of teeth with apical periodontitis.

AIM To determine the free available chlorine of 2.5% sodium hypochlorite (NaOCl) alone and combined with 9% etidronic acid (HEDP) in the presence of inhibitors, organic tissue and organic tissue plus dentine debris; to evaluate the influence of dentine debris on the tissue-dissolving capacity of both NaOCl solutions; and to determine the antimicrobial action of these solutions when in contact with organic tissue and organic tissue plus dentine debris. METHODOLOGY The available chlorine of the solutions over time in the absence and presence of the inhibitors was measured using a titration method. The organic tissue dissolution by the solutions alone and in the presence of dentine powder was evaluated by weighing bovine tissue specimens before and after exposure to the solutions for 3 and 10 min. For the antimicrobial activity, biofilms of Enterococcus faecalis were exposed to the solutions for 3 min in the absence and presence of organic tissue and organic tissue + dentine debris. The biovolume and percentage of damaged membrane cells of the biofilm were measured by means of confocal microscopy and the live/dead technique. Nonparametric tests were used to determine statistical differences (P

Introduction The aim of this study was to determine the antimicrobial activity of mixed alkaline tetrasodium EDTA (EDTANa4)/sodium hypochlorite (NaOCl) solutions with and without the addition of cetrimide (CTR) against Enterococcus faecalis biofilms. Methods The antimicrobial solutions were evaluated on a 3-week biofilm of E. faecalis grown on radicular dentin blocks. The irrigating solutions were 2.5% NaOCl group, 20% EDTANa4 group, 10% EDTANa4 group, 2.5% NaOCl/10% EDTANa4 group, 2.5% NaOCl/5% EDTANa4 group, 2.5% NaOCl/10% EDTANa4/0.2% CTR group, 2.5% NaOCl/5% EDTANa4/0.2% CTR group, and 0.9% saline solution group. Cell viability was determined by adenosine triphosphate assay, and culture techniques were used to determine colony-forming unit (CFU) counts. In groups with positive growth, the Pearson linear correlation coefficient r (−1 ≤ r ≤ 1) between relative light units (RLUs) and log10 (CFUs + 1) was calculated. The results of the bioluminescence adenosine triphosphate assay and CFUs of the groups were analyzed by means of analysis of variance and the Duncan test. Results There was Pearson correlation between RLUs and log10 (CFUs + 1). A similar reduction of RLUs in all NaOCl groups was seen, giving statistical differences with respect to the control. In the NaOCl groups there was no bacterial growth. The lowest antimicrobial efficacy was found for the EDTANa4 groups. Conclusions Mixed alkaline EDTANa4/NaOCl solutions with and without the addition of CTR do not interfere with the antimicrobial activity of NaOCl.

Objectives: This article aims to assess the contribution of genomic ancestry and socioeconomic status to obesity in a sample of admixed Latin Americans. Methods: The study comprised 6776 adult volunteers from Brazil, Chile, Colombia, Mexico, and Peru. Each volunteer completed a questionnaire about socioeconomic variables. Anthropometric variables such as weight, height, waist, and hip circumference were measured to calculate body indices: body mass index, waist-to-hip ratio and waist-to-height ratio (WHtR). Genetic data were extracted from blood samples, and ancestry was estimated using chip genotypes. Multiple linear regression was used to evaluate the relationship between the indices and ancestry, educational level, and economic well-being. The body indices were dichotomized to obesity indices by using appropriate thresholds. Odds ratios were calculated for each obesity index. Results: The sample showed high percentages of obesity by all measurements. However, indices did not overlap consistently when classifying obesity. WHtR resulted in the highest prevalence of obesity. Overall, women with low education level and men with high economic wellness were more likely to be obese. American ancestry was statistically associated with obesity indices, although to a lesser extent than socioeconomic variables. Conclusions: The proportion of obesity was heavily dependent on the index and the population. Genomic ancestry has a significant influence on the anthropometric measurements, especially on central adiposity. As a whole, we detected a large interpopulation variation that suggests that better approaches to overweight and obesity phenotypes are needed in order to obtain more precise reference values. Fil: Ruderman, Anahí. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Perez, Luis Orlando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido. Open University; Reino Unido Fil: Navarro, Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia Fil: Bortolini, María Cátira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología E Historia; México Fil: Canizales Quinteros, Samuel. Instituto Nacional de Medicina Genómica; México Fil: Rothhammer, Francisco. Universidad de Chile; Chile Fil: Ruiz-Linares, Andres. Colegio Universitario de Londres; Reino Unido. Fudan University; China Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina

The Naive Bayes approximation (NBA) and associated classifier are widely used and offer robust performance across a large spectrum of problem domains. As it depends on a very strong assumption--independence among features--this has been somewhat puzzling. Various hypotheses have been put forward to explain its success and many generalizations have been proposed. In this paper we propose a set of "local" error measures--associated with the likelihood functions for subsets of attributes and for each class--and show explicitly how these local errors combine to give a "global" error associated to the full attribute set. By so doing we formulate a framework within which the phenomenon of error cancelation, or augmentation, can be quantified and its impact on classifier performance estimated and predicted a priori. These diagnostics allow us to develop a deeper and more quantitative understanding of why the NBA is so robust and under what circumstances one expects it to break down. We show how these diagnostics can be used to select which features to combine and use them in a simple generalization of the NBA, applying the resulting classifier to a set of real world data sets.

Accurate gathering of phenotypic information is a key aspect in several subject matters, including biometrics, biomedical analysis, forensics, and many other. Automatic identification of anatomical structures of biometric interest, such as fingerprints, iris patterns, or facial traits, are extensively used in applications like access control and anthropological research, all having in common the drawback of requiring intrusive means for acquiring the required information. In this regard, the ear structure has multiple advantages. Not only the ear´s biometric markers can be easily captured from the distance with non intrusive methods, but also they experiment almost no changes over time, and are not influenced by facial expressions. Here we present a new method based on Geometric Morphometrics and Deep Learning for automatic ear detection and feature extraction in the form of landmarks. A convolutional neural network was trained with a set of manually landmarked examples. The network is able to provide morphometric landmarks on ears´ images automatically, with a performance that matches human landmarking. The feasibility of using ear landmarks as feature vectors opens a novel spectrum of biometrics applications. Fil: Cintas, Celia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: Quinto Sanchez, Mirsha Emmanuel. Universidad Nacional Autónoma de México; México. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Acuña,Victor. University College London; Estados Unidos Fil: Paschetta, Carolina Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: Silva de Cerqueira, Caio Cesar. Estado de São Paulo. Superintendência da Polícia Técnico-Científica; Brasil Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; México Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia Fil: Ruiz Linares, Andres. Fudan University; China. Aix Marseille Université; Francia Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: Delrieux, Claudio Augusto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Bahía Blanca. Instituto Argentino de Oceanografía. Universidad Nacional del Sur. Instituto Argentino de Oceanografía; Argentina. Universidad Nacional del Sur; Argentina

The sealers' antibacterial and antibiofilm activities against Enterococcus faecalis were evaluated by direct contact test (DCT) and confocal laser scanning microscopy (CLSM), respectively, after 1 day, and 1 and 4 weeks of aging. Cell viability was determined by adenosin triphosphate (ATP) assay after DCT. The parameters evaluated for the antibiofilm property were total biovolume and percentage of green cells in E.faecalis biofilms. The data from the bioluminescence ATP assay as well as the total biovolume and green percentage were analyzed by non-parametric tests, Kruskal-Wallis for global comparison and Kolmogorov-Smirnov for each two variables. Results of the DCT and CLSM for all parameters evaluated show that the antimicrobial activity of AH Plus decreased over time, whereas GuttaFlow Bioseal had an opposite property, increasing its antibacterial activity as the material aged.

Most population isolates examined to date were founded from a single ancestral population. Consequently, there is limited knowledge about the demographic history of admixed population isolates. Here we investigate genomic diversity of recently admixed population isolates from Costa Rica and Colombia and compare their diversity to a benchmark population isolate, the Finnish. These Latin American isolates originated during the 16th century from admixture between a few hundred European males and Amerindian females, with a limited contribution from African founders. We examine whole-genome sequence data from 449 individuals, ascertained as families to build mutigenerational pedigrees, with a mean sequencing depth of coverage of approximately 36×. We find that Latin American isolates have increased genetic diversity relative to the Finnish. However, there is an increase in the amount of identity by descent (IBD) segments in the Latin American isolates relative to the Finnish. The increase in IBD segments is likely a consequence of a very recent and severe population bottleneck during the founding of the admixed population isolates. Furthermore, the proportion of the genome that falls within a long run of homozygosity (ROH) in Costa Rican and Colombian individuals is significantly greater than that in the Finnish, suggesting more recent consanguinity in the Latin American isolates relative to that seen in the Finnish. Lastly, we find that recent consanguinity increased the number of deleterious variants found in the homozygous state, which is relevant if deleterious variants are recessive. Our study suggests that there is no single genetic signature of a population isolate.

PURPOSE: To describe the clinical signs of gelatinous drop-like corneal dystrophy (GDLD) in a consanguineous Colombian family and determine the underlying genetic cause. METHODS: We performed ocular examination of available family members and bidirectionally Sanger sequenced the GDLD-associated gene, TACSTD2. In one individual, the presence of subepithelial amyloid was confirmed with biopsy. RESULTS: The parents were consanguineous and 5 of their 10 children had GDLD. Typical mulberry subepithelial deposits with subepithelial vascularization were present in 3 individuals; 2 individuals only had mild polymorphic anterior stromal opacity. We identified a homozygous TACSTD2 missense mutation, c.551A>G, p.(Tyr184Cys), in the affected family members. Both parents were heterozygous for the mutation, and unaffected siblings were either heterozygous or homozygous wild-type for this allele. In the Colombian population, this mutation has a minor allele frequency of 0.53%. CONCLUSION: The clinical presentation of GDLD in this family was variable and does not solely support an age-dependent progression of the phenotype, suggesting that environmental or other genetic factors can modify phenotypic expression. The relatively high prevalence of this mutation in the Colombian population suggests that other individuals may have undiagnosed subclinical disease.

Introduction The purpose of this study was to determine the influence of dentin powder on the concentration, pH, and antimicrobial activity of sodium hypochlorite (NaOCl) alone and combined with etidronic acid (HEBP). Methods Biofilms of Enterococcus faecalis were grown on the surface of dentin blocks for 5 days and then exposed to 1% and 2.5% NaOCl alone or combined with 9% HEBP for 3 minutes in the absence and presence of dentin powder. The biovolumes of the biofilm were measured using confocal microscopy and the live/dead technique. The available chlorine and pH of the solutions were also measured. Nonparametric tests were used to determine statistical differences ( P Results The presence of dentin powder resulted in a reduction of the free available chlorine and pH in all the irrigating solutions; 1% NaOCl lost its antimicrobial activity completely in the presence of dentin powder. The antimicrobial activity was significantly reduced in the 2.5% NaOCl and 1% NaOCl/HEBP groups, and it was not affected in the 2.5% NaOCl/HEBP group. Conclusions The presence of dentin powder significantly decreased the available chlorine and antimicrobial activity of 1% NaOCl, 2.5% NaOCl, and 1% NaOCl/HEBP irrigating solutions. The antimicrobial activity of 2.5% NaOCl/HEBP was not affected by the dentin powder after a 3-minute contact time against E. faecalis biofilms.

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. Fil: Boekstegers, Felix. Ruprecht Karls Universitat Heidelberg; Alemania Fil: Marcelain, Katherine. Universidad de Chile; Chile Fil: Barahona Ponce, Carol. Ruprecht Karls Universitat Heidelberg; Alemania. Universidad de Chile; Chile Fil: Baez Benavides, Pablo F.. Universidad de Chile; Chile Fil: Müller, Bettina. Instituto Nacional del Cáncer, Chile; Chile Fil: de Toro, Gonzalo. Hospital Puerto Montt; Chile Fil: Retamales, Javier. Instituto Nacional del Cáncer, Chile; Chile Fil: Barajas, Olga. Hospital Clinico de la Universidad de Chile; Chile. Universidad de Chile; Chile Fil: Ahumada, Monica. Hospital Clínico de la Universidad de Chile; Chile. Universidad de Chile; Chile Fil: Morales, Erik. Regional Hospital; Chile Fil: Rojas, Armando. Universidad Catolica de Maule; Chile Fil: Sanhueza, Verónica. Hospital Padre Hurtado; Chile Fil: Loader, Denisse. Hospital Padre Hurtado; Chile Fil: Rivera, María Teresa. Hospital del Salvador; Chile Fil: Gutiérrez, Lorena. Hospital San Juan de Dios, Santiago de Chile; Chile Fil: Bernal, Giuliano. Universidad Católica del Norte; Chile Fil: Ortega, Alejandro. Hospital Regional, Arica; Chile Fil: Montalvo, Domingo. Hospital Regional de Arica Doctor Juan Noé Crevani; Chile Fil: Portiño, Sergio. Hospital Clinico de la Universidad de Chile; Chile Fil: Bertrán, Maria Enriqueta. Ministerio de Salud, Valdivia; Chile Fil: Gabler, Fernando. Universidad de Santiago de Chile. Hospital Clinico San Borja Arriaran; Chile Fil: Spencer, Loreto. Hospital Regional de Concepción - Dr. Guillermo Grant Benavente; Chile Fil: Olloquequi, Jordi. Universidad Autónoma de Chile; Chile Fil: González Silos, Rosa. Ruprecht Karls Universitat Heidelberg; Alemania Fil: Fischer, Christine. Ruprecht Karls Universitat Heidelberg; Alemania Fil: Scherer, Dominique. Ruprecht Karls Universitat Heidelberg; Alemania Fil: Jenab, Mazda. International Agency for Research on Cancer; Francia Fil: Aleksandrova, Krasimira. Universitat Potsdam; Alemania Fil: Katzke, Verena. German Cancer Research Center; Alemania Fil: Gonzalez-jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Weiderpass, Elisabete. International Agency for Research on Cancer; Francia Fil: Moradi, Tahereh. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Fischer, Krista. University of Tartu; Estonia Fil: Bossers, Willem. Lifelines Cohort Study; Países Bajos Fil: Brenner, Hermann. German Cancer Research Center; Alemania Fil: Hveem, Kristian. Norges Teknisk naturvitenskapelige Universitet; Noruega Fil: Eklund, Niina. National Institute For Health And Welfare; Finlandia Fil: Völker, Uwe. Universitätsmedizin Greifswald; Alemania Fil: Waldenberger, Melanie. Helmholtz Center Munich German Research Center For Environmental Health; Alemania Fil: Fuentes Guajardo, Macarena. Universidad de Tarapaca.; Chile Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia Fil: Bortolini, Maria C.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales, Samuel. Universidad Nacional Autónoma de México; México Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Ruiz Linares, Andres. Fudan University; China Fil: Rothhammer, Francisco. Universidad de Tarapaca.; Chile Fil: Lorenzo Bermejo, Justo. Ruprecht Karls Universitat Heidelberg; Alemania

The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci, among which 17 were previously unpublished. A multi-ethnic replication study in 7,917 individuals confirmed 13 loci including 8 unpublished ones. Allele frequencies at the face-associated loci were significantly more differentiated among populations than genome background, supporting a role of nature selection in shaping genetic differentiation underlying facial variation. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities at INTU, PAX3, RPGRIP1L. Knocking-out two face-associated genes TBX15 and PAX1 in mice resulted in craniofacial dysmorphology. These results substantially advance our understanding of the genetic and functional basis of human facial variation.

Facial asymmetries are usually measured and interpreted as proxies to developmental noise. However, analyses focused on its developmental and genetic architecture are scarce. To advance on this topic, studies based on a comprehensive and simultaneous analysis of modularity, morphological integration and facial asymmetries including both phenotypic and genomic information are needed. Here we explore several modularity hypotheses on a sample of Latin American mestizos, in order to test if modularity and integration patterns differ across several genomic ancestry backgrounds. To do so, 4104 individuals were analyzed using 3D photogrammetry reconstructions and a set of 34 facial landmarks placed on each individual. We found a pattern of modularity and integration that is conserved across sub-samples differing in their genomic ancestry background. Specifically, a signal of modularity based on functional demands and organization of the face is regularly observed across the whole sample. Our results shed more light on previous evidence obtained from Genome Wide Association Studies performed on the same samples, indicating the action of different genomic regions contributing to the expression of the nose and mouth facial phenotypes. Our results also indicate that large samples including phenotypic and genomic metadata enable a better understanding of the developmental and genetic architecture of craniofacial phenotypes. Fil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Muñoz-Muñoz, Francesc. Universidad Nacional Autónoma de México; México Fil: Gomez-Valdes, Jorge. Universitat Autònoma de Barcelona; España Fil: Cintas, Celia. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Navarro, Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Cerqueira, Caio Cesar Silva De. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Paschetta, Carolina Andrea. Equipe de Perícias Criminalísticas de Ourinhos; Fil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Acuña-Alonzo, Victor. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido Fil: Fuentes-Guajardo, MacArena. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Hünemeier, Tábita. Colegio Universitario de Londres; Reino Unido Fil: Everardo, Paola. Universidad de Tarapaca de Arica; Chile Fil: De Avila, Francisco. Colegio Universitario de Londres; Reino Unido Fil: Jaramillo, Claudia. Universidade de Sao Paulo; Brasil Fil: Arias, Williams. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Gallo, Carla. Universidad Nacional Autónoma de México; México Fil: Poletti, Giovani. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia Fil: Bortolini, Maria Catira. Universidad de Antioquia; Colombia Fil: Canizales-Quinteros, Samuel. Universidad Peruana Cayetano Heredia; Perú Fil: Rothhammer, Francisco. Universidad Peruana Cayetano Heredia; Perú Fil: Rosique, Javier. Universidad de Antioquia; Colombia Fil: Ruiz-Linares, Andres. Universidade Federal do Rio Grande do Sul; Brasil Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina

Omentin-1 is an adipocytokine with anti-inflammatory activity that has been associated with different metabolic disorders. The aim of this study is to investigate the serum profiles of omentin-1 throughout human and rat pregnancy. Serum omentin-1 levels were determined by ELISA in a prospective cohort study of healthy pregnant women (n=40) during the three trimesters of pregnancy and in twenty healthy non-pregnant women during the follicular and luteal phase of the menstrual cycle. In addition, serum omentin-1 levels were measured in rats during different periods of pregnancy (gestational days 8, 12, 16, 19, and 21) and in an age-matched control (virgin) group of rats (n=12rats/group). Finally, immunohistochemistry was used to demonstrate the presence of omentin-1 protein in human and rat placenta. Omentin-1 immunoreactivity was detected in cytotrophoblasts, syncytiotrophoblasts, sparse Hofbauer cells, and endothelial cells of the stem villi of human placenta. Additionally, it was detected in the labyrinthine trophoblast and yolk sac layer of the rat placenta. Human and rat serum omentin-1 levels were significantly lower in the late gestational period when compared with the non-pregnant women and virgin rats (p0.05). Serum omentin-1 changes were not significant throughout the gestation in both species (p0.05). Human serum omentin-1 levels have an inverse relationship with triglyceride levels during pregnancy. Our findings have not determined the exact role of omentin-1 during pregnancy, concerning the metabolic control of triglycerides and other energy sources. Whether omentin-1 decrease implies a regulatory function is still not clear. Further studies are needed to address this issue and determine the role of omentin-1 in metabolic adaptations during normal human and rat pregnancy.

Fluctuating and directional asymmetry are aspects of morphological variation widely used to infer environmental and genetic factors affecting facial phenotypes. However, the genetic basis and environmental determinants of both asymmetry types is far from being completely known. The analysis of facial asymmetries in admixed individuals can be of help to characterize the impact of a genome's heterozygosity on the developmental basis of both fluctuating and directional asymmetries. Here we characterize the association between genetic ancestry and individual asymmetry on a sample of Latin-American admixed populations. To do so, three-dimensional (3D) facial shape attributes were explored on a sample of 4,104 volunteers aged between 18 and 85 years. Individual ancestry and heterozygosity was estimated using more than 730,000 genome-wide markers. Multivariate techniques applied to geometric morphometric data were used to evaluate the magnitude and significance of directional and fluctuating asymmetry (FA), as well as correlations and multiple regressions aimed to estimate the relationship between facial FA scores and heterozygosity and a set of covariates. Results indicate that directional and FA are both significant, the former being the strongest expression of asymmetry in this sample. In addition, our analyses suggest that there are some specific patterns of facial asymmetries characterizing the different ancestry groups. Finally, we find that more heterozygous individuals exhibit lower levels of asymmetry. Our results highlight the importance of including ancestry-admixture estimators, especially when the analyses are aimed to compare levels of asymmetries on groups differing on socioeconomic levels, as a proxy to estimate developmental noise.

Aim To evaluate the antimicrobial effect of 2.5% sodium hypochlorite alone (NaOCl) and associated with 9% HEBP (NaOCl/HEBP), 2% peracetic acid (PAA) and 2% chlorhexidine (CHX), on the viability of Enterococcus faecalis biofilms attached to dentine. Methodology Biofilms of E. faecalis were grown on the surface of dentine blocks for 5 days and then exposed to the irrigating solutions for 3 min. Distilled water was used as the control. The total biovolume and the percentage of dead cells of the infected dentine were measured by means of confocal microscopy and the live/dead technique. Nonparametric tests were used to determine statistical differences (P

The aim of this study was to evaluate the antimicrobial activity of a 2.5% sodium hypochlorite (NaOCl)/9% etidronic acid (HEBP) irrigant solution on Enterococcus faecalis growing in biofilms and a dentinal tubule infection model.The antimicrobial activity of the solutions 2.5% NaOCl and 9% HEBP alone and associated was evaluated on E. faecalis biofilms grown in the Calgary biofilm model (minimum biofilm eradication concentration high-throughput device). For the dentinal tubule infection test, the percentage of dead cells in E. faecalis-infected dentinal tubules treated with the solutions for 10 minutes was measured using confocal laser scanning microscopy and the live/dead technique. Available chlorine and pH of the solutions were also measured. Distilled water was used as the control. Nonparametric tests were used to determine statistical differences.The highest viability was found in the distilled water group and the lowest in the NaOCl-treated dentin (P.05). Both NaOCl solutions killed 100% of the E. faecalis biofilms and showed the highest antimicrobial activity inside dentinal tubules, without statistical differences between the 2 (P.05). The HEBP isolated solution killed bacteria inside dentinal tubules but did not present any significant effect against E. faecalis biofilms. The incorporation of HEBP to NaOCl did not cause any loss of available chlorine within 60 minutes.HEBP did not interfere with the ability of NaOCl to kill E. faecalis grown in biofilms and inside dentinal tubules.

The antibacterial efficacy of intracanal medicaments for 2 and 7 days, in open apex root canals contaminated with Enterococcus faecalis biofilms was compared. One hundred and thirty-eight standardized uniradicular human roots were inoculated with E. faecalis. Colony forming units (CFU) were recorded before and after medication. Samples were divided in two (2/7 days), and subdivided (n=8/group): triple antibiotic paste (TAP); double antibiotic paste (DAP); dental base paste (DBP), consisting of calcium hydroxide, propylene glycol and calcium carbonate; DBP+0.2% chlorhexidine (CHX); DBP+0.2% cetrimide (CTR); DBP+0.2% CHX+0.2% CTR; 2.5% sodium hypochlorite (NaOCl); and distilled water. At both periods TAP, DAP, DBP+0.2% CHX, DBP+0.2% CTR and DBP+0.2% CHX+0.2% CTR exhibited no growth (NG) of E. faecalis. Distilled water and 2.5% NaOCl obtained the lowest CFU reduction. No growth with DBP was reached only at 7 days. CHX and/or CTR pastes were as effective as DAP and TAP. A 2-day period provided an effective disinfection.

The wide variation in severity displayed during Dengue Virus (DENV) infection may be influenced by host susceptibility. In several epidemiological approaches, differences in disease outcomes have been found between some ethnic groups, suggesting that human genetic background has an important role in disease severity. In the Caribbean, It has been reported that populations of African descent present considerable less frequency of severe forms compared with Mestizo and White self-reported groups. Admixed populations offer advantages for genetic epidemiology studies due to variation and distribution of alleles, such as those involved in disease susceptibility, as well to provide explanations of individual variability in clinical outcomes. The current study analysed three Colombian populations, which like most of Latin American populations, are made up of the product of complex admixture processes between European, Native American and African ancestors; having as a main goal to assess the effect of genetic ancestry, estimated with 30 Ancestry Informative Markers (AIMs), on DENV infection severity. We found that African ancestry has a protective effect against severe outcomes under several systems of clinical classification: Severe Dengue (OR: 0.963 for every 1% increase in African ancestry, 95% confidence interval (0.934-0.993), p-value: 0.016), Dengue Haemorrhagic Fever (OR: 0.969, 95% CI (0.947-0.991), p-value: 0.006), and occurrence of haemorrhages (OR: 0.971, 95% CI (0.952-0.989), p-value: 0.002). Conversely, decrease from 100% to 0% African ancestry significantly increases the chance of severe outcomes: OR is 44-fold for Severe Dengue, 24-fold for Dengue Haemorrhagic Fever, and 20-fold for occurrence of haemorrhages. Furthermore, several warning signs also showed statistically significant association given more evidences in specific stages of DENV infection. These results provide consistent evidence in order to infer statistical models providing a framework for future genetic epidemiology and clinical studies.

Introduction The use of root canal filling materials with antibacterial activity can be considered beneficial to reduce the remaining microorganisms in the root canal system, where Enterococcus faecalis is often found, and prevent recurrent infection. The aim of this study was to evaluate the antimicrobial activity and capacity for inhibiting E. faecalis biofilm formation of AH Plus, alone and mixed with chlorhexidine (CHX), cetrimide (CTR), and combinations of the two. Methods AH Plus alone and mixed with 1% and 2% CHX, 0.1%–0.5% CTR, and combinations of both were tested to assess antimicrobial activity by a modified direct contact test and determine inhibition of E. faecalis biofilm formation at 24 hours. The results were expressed as log 10 viable counts. Eradication and inhibition of biofilm formation were understood as no bacterial growth or log 10 reduction = 5 with respect to the control (AH Plus alone). Results AH Plus + CHX showed a low antimicrobial activity with respect to the control (at 2%, log 10 reduction = 1.30). None of the tested concentrations achieved eradication or inhibition of biofilm. AH Plus + CTR showed a direct relationship of concentration-antimicrobial effect, reaching a log 10 reduction of 2.92 at 0.5% and inhibition of biofilm formation at 0.2%. With the combination CHX + CTR, lower concentrations were needed for the same effect, and eradication and inhibition of biofilm were achieved. Conclusions The addition of CHX, CTR, or some combination of both to AH Plus confers it with bactericidal and anti-biofilm activity against E. faecalis .

The population structure of Native Mexicans The genetics of indigenous Mexicans exhibit substantial geographical structure, some as divergent from each other as are existing populations of Europeans and Asians. By performing genome-wide analyses on Native Mexicans from differing populations, Moreno-Estrada et al. successfully recapitulated the pre-Columbian substructure of Mexico. This ancestral structure is evident among cosmopolitan Mexicans and is correlated with subcontinental origins and medically relevant aspects of lung function. These findings exemplify the importance of understanding the genetic contributions of admixed individuals. Science , this issue p. 1280

Irisin is a recently discovered adipomyokine that regulates the differentiation and phenotype of adipose tissue.In this study, we investigated the levels of irisin over the three trimesters of gestation in healthy and preeclamptic women and during the follicular and luteal phase of the menstrual cycle in a cohort of healthy eumenoherric women.Serum irisin was measured by an ELISA in a longitudinal prospective cohort study in 40 healthy pregnant women, 10 mild preeclamptic women, and 20 healthy eumenoherric women during the menstrual cycle to assess irisin levels and correlations with other metabolic parameters. We identified the protein expression of fibronectin type III domain-containing protein 5, the irisin precursor, in human placenta using immunohistochemical approaches in humans.Serum irisin levels are higher in the luteal than in the follicular phase in eumenorrheic women. Fibronectin type III domain-containing protein 5, the irisin precursor, is expressed in human placenta, and its serum levels are higher during the entire pregnancy when compared with nonpregnant women. Serum irisin correlates positively with the homeostasis model assessment of estimated insulin resistance in the first trimester of normal pregnancy. Serum irisin levels do not change throughout gestation in preeclamptic women; however, there were lower irisin levels during the third trimester when compared with the normal pregnant group.Our results suggest that irisin may be involved in reproductive function and in the pregnancy-associated metabolic changes, and this condition may be an irisin-resistant state during gestation.

Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development. Fil: Fernandes Lima, Z.S.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Paixão-Côrtes, V.R.. Universidade Federal do Rio Grande do Sul; Brasil Fil: de Andrade, A.K.M.. Faculdade de Medicina; Brasil Fil: Fernandes, A.S.. Universidade Federal de Alagoas; Brasil Fil: Coronado, B.N.L.. Universidade Federal de Alagoas; Brasil Fil: Monte Filho, H.P.. Universidade Federal de Alagoas; Brasil Fil: Santos, M.J.. Universidade Federal de Alagoas; Brasil Fil: Omena Filho, R.L.. Universidade Federal de Alagoas; Brasil Fil: Biondi, Facundo Carmelo. Universidade Federal do Rio Grande do Sul; Brasil Fil: Ruiz Linares, A.. University College London; Estados Unidos Fil: Ramallo, Virginia. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Hunemeier, T.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Schuler Faccini, L.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Monlleo, I.L.. Universidade Federal de Alagoas; Brasil