Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases.

Genome-wide association studies (GWAS) have mapped over 90% of disease- and quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory DNA (e.g., promoters and enhancers) and RNA (e.g., 5' and 3' UTRs and splice sites) are essential in regulating temporal and tissue-specific gene expressions. Non-coding variants can potentially impact the phenotype of an organism by altering the molecular recognition of the cis-regulatory elements, leading to gene dysregulation. However, determining causality between non-coding variants, gene regulation, and human disease has remained challenging. Experimental and computational methods have been developed to understand the molecular mechanism involved in non-coding variant interference at the transcriptional and post-transcriptional levels. This review discusses recent approaches to evaluating disease-associated single-nucleotide variants (SNVs) and determines their impact on transcription factor (TF) binding, gene expression, chromatin conformation, post-transcriptional regulation, and translation.

Resilience, Self-Efficacy, and Symptoms of Anxiety and Depression in Older Adults during COVID-19 Confinement.

OBJECTIVE: This study examined the relationship between resilience, self-efficacy, anxiety, and depression to test whether self-efficacy affected anxiety and depression and compared how the participants in different age groups experienced anxiety, as well as the differences in anxiety between employed and unemployed participants. METHOD: A cross sectional web-based survey study that included adults aged 60 years or older living in Puerto Rico was performed during April and May 2020. RESULTS: A total of 299 older adults completed the online questionnaire (14% men, 83.6% women). Of the total sample, 25.4% reported having moderate to severe symptoms of anxiety, while 20.8% reported having moderate to severe symptoms of depression. Our path analysis model suggested that while self-efficacy did not directly affect anxiety, it had an impact on resilience, thereby reducing anxiety symptoms. The participants who were 71 years old or older had lower anxiety levels than their younger counterparts did. We also confirmed that work might serve as a protective factor against anxiety. CONCLUSION: Our findings underscore the importance of resilience, self-efficacy, and working later in life to promote well-being and successful aging.

Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach.

Cardiovascular diseases (CVDs) are the leading cause of death worldwide and are heavily influenced by genetic factors. Genome-wide association studies have mapped >90% of CVD-associated variants within the noncoding genome, which can alter the function of regulatory proteins, such as transcription factors (TFs). However, due to the overwhelming number of single-nucleotide polymorphisms (SNPs) (>500,000) in genome-wide association studies, prioritizing variants for in vitro analysis remains challenging. In this work, we implemented a computational approach that considers support vector machine (SVM)-based TF binding site classification and cardiac expression quantitative trait loci (eQTL) analysis to identify and prioritize potential CVD-causing SNPs. We identified 1535 CVD-associated SNPs within TF footprints and putative cardiac enhancers plus 14,218 variants in linkage disequilibrium with genotype-dependent gene expression in cardiac tissues. Using ChIP-seq data from two cardiac TFs (NKX2-5 and TBX5) in human-induced pluripotent stem cell-derived cardiomyocytes, we trained a large-scale gapped k-mer SVM model to identify CVD-associated SNPs that altered NKX2-5 and TBX5 binding. The model was tested by scoring human heart TF genomic footprints within putative enhancers and measuring in vitro binding through electrophoretic mobility shift assay. Five variants predicted to alter NKX2-5 (rs59310144, rs6715570, and rs61872084) and TBX5 (rs7612445 and rs7790964) binding were prioritized for in vitro validation based on the magnitude of the predicted change in binding and are in cardiac tissue eQTLs. All five variants altered NKX2-5 and TBX5 DNA binding. We present a bioinformatic approach that considers tissue-specific eQTL analysis and SVM-based TF binding site classification to prioritize CVD-associated variants for in vitro analysis.

CREPE: a Shiny app for transcription factor cataloguing.

Summary: Transcription factors (TFs) are proteins that directly interpret the genome to regulate gene expression and determine cellular phenotypes. TF identification is a common first step in unraveling gene regulatory networks. We present CREPE, an R Shiny app to catalogue and annotate TFs. CREPE was benchmarked against curated human TF datasets. Next, we use CREPE to explore the TF repertoires of Heliconius erato and Heliconius melpomene butterflies. Availability and implementation: CREPE is available as a Shiny app package available at GitHub (github.com/dirostri/CREPE). Supplementary information: Supplementary data are available at Bioinformatics Advances online.

Disease-associated non-coding variants alter NKX2-5 DNA-binding affinity.

Genome-wide association studies (GWAS) have mapped over 90 % of disease- or trait-associated variants within the non-coding genome, like cis-regulatory elements (CREs). Non-coding single nucleotide polymorphisms (SNPs) are genomic variants that can change how DNA-binding regulatory proteins, like transcription factors (TFs), interact with the genome and regulate gene expression. NKX2-5 is a TF essential for proper heart development, and mutations affecting its function have been associated with congenital heart diseases (CHDs). However, establishing a causal mechanism between non-coding genomic variants and human disease remains challenging. To address this challenge, we identified 8475 SNPs predicted to alter NKX2-5 DNA-binding using a position weight matrix (PWM)-based predictive model. Five variants were prioritized for in vitro validation; four of them are associated with traits and diseases that impact cardiovascular health. The impact of these variants on NKX2-5 binding was evaluated with electrophoretic mobility shift assay (EMSA) using purified recombinant NKX2-5 homeodomain. Binding curves were constructed to determine changes in binding between variant and reference alleles. Variants rs7350789, rs7719885, rs747334, and rs3892630 increased binding affinity, whereas rs61216514 decreased binding by NKX2-5 when compared to the reference genome. Our findings suggest that differential TF-DNA binding affinity can be key in establishing a causal mechanism of pathogenic variants.

Analysis of the solubility of phosphate rock from Aipe (Colombia) via formation of 2Na-EDTA complex.

Phosphate rock (PR) is the main source of phosphorous used in fertilizers for Colombian soils. In many regions of Colombia, PR is applied directly to the soil, which affects eutrophication problems and phosphorus losses due to runoff, because to the low solubility of phosphorus in this georesource. In this article, phosphate rock samples from Colombia were treated with ethylenediamine tetra-acetic acid disodium salt dihydrate (2Na-EDTA) at different concentrations. PR obtained from the Media Luna Mine, located in Aipe, Huila (Colombia), was characterized using Infrared Spectroscopy, X-ray Diffraction and Scanning Electron Microscopy. Carbonate fluorapatite Ca9.74(PO4)5.45F2.05(CO3)0.53 (0.5%-61.5 %), hydroxyapatite - Ca5(PO4)3OH (26.6 %-84.0 %) and quartz- SiO2 (13.2 %) were the minerals found in the largest composition in the two samples of PR. The PR was crushed to powder (~125 µm) and it was treated with disodium EDTA dihydrate solutions at different concentrations [0.0025-0.1000 M]. Water-soluble phosphate was determined by UV-Vis spectrophotometry based on the ASTM -4500P method. The modified absolute solubility index (ASI*) was calculated for each EDTA treatment used in the phosphate rock, considering the total phosphorus solubilized in H2SO4 (40 % v/v) at 30 °C. The statistical analysis showed that there were significant differences between the treatments used, where (16.87 %) was presented highest ASI* for the treatment with 2Na-EDTA (0.353 M).

Estimation of the number of preventable COVID-19 deaths in relation to the restrictive measures adopted in Europe.

INTRODUCTION: In December 2019, a new coronavirus emerged in Wuhan, China, which has become a global health problem. OBJECTIVES: To estimate how many daily COVID-19 deaths per 100,000 population could have been avoided if each one of five restrictive measures had been implemented at the time the first case was diagnosed, and to estimate a multiple linear regression model predictive of the number of deaths per 100,000 population. METHODS: A simple linear regression was performed between the days elapsed since the first COVID-19 diagnosed case, implementation of each one of the five restrictive measures carried out by the 39 European studied countries, the number of hospital beds per 1,000 population (independent variables) and the number of COVID-19 deaths per 100,000 population. RESULTS: For each day elapsed from the first COVID-19 reported case to the adoption of restrictive measures, between 0.611 (p = 0.004) and 1.863 (p = 0.000) patients died per 100,000 population, depending on the implemented measure. CONCLUSIONS: Restrictive measures and social distancing, as well as promptness of their implementation, are necessary for achieving a decrease in COVID-19 infections and mortality.

INTRODUCCIÓN: En diciembre de 2019 surgió un nuevo coronavirus en Wuhan, China, que se ha convertido en un problema de salud global. OBJETIVO: Estimar cuántos fallecimientos diarios atribuibles a COVID-19 por cada 100 000 habitantes se podrían haber evitado si se hubiese llevado a cabo cada una de las cinco medidas restrictivas al momento del diagnóstico del primer caso, así como estimar un modelo de regresión lineal múltiple predictivo del número de fallecimientos por cada 100 000 habitantes. MÉTODOS: Se realizó un modelo de regresión lineal simple entre los días transcurridos desde el primer caso diagnosticado de COVID-19, la implantación de cada una de las cinco medidas llevadas a cabo por los 39 países europeos estudiados, el número de camas hospitalarias por 1000 habitantes (variables independientes) y el número de fallecimientos por COVID-19 por 100 000 habitantes. RESULTADOS: Por cada día transcurrido desde el primer caso notificado de COVID-19 hasta la adopción de las medidas restrictivas, fallecieron entre 0.611 (p = 0.004) y 1.863 (p = 0.000) pacientes por cada 100 000 habitantes, dependiendo de la medida implementada. CONCLUSIONES: Las medidas restrictivas y el distanciamiento social, así como la celeridad de su instauración, son necesarios para lograr el descenso del número de contagios de COVID-19 y su mortalidad.

Estimation of the number of preventable COVID-19 deaths in relation to the restrictive measures adopted in America.

INTRODUCTION: In America, the United States was particularly affected by the COVID-19 pandemic. OBJECTIVES: To estimate how many daily COVID-19 deaths per 100,000 population would have been avoided if each one of five restrictive measures had been implemented at the time of diagnosis and to estimate a multiple linear regression model predictive of the number of deaths per 100,000 population based on the measures adopted by the countries. METHODS: A simple linear regression was performed between the days elapsed since the first COVID-19 diagnosed case and the implementation of each one of the five restrictive measures by the 27 American countries studied and the number of COVID-19 deaths per 100,000 population. RESULTS: For each day between the first COVID-19 reported case and the adoption of restrictive measures, between 0.250 (p = 0.021) and 0.600 (p = 0.001) patients per 100,000 population died, depending on the measure in question. CONCLUSIONS: Adoption of restrictive measures and social distancing are necessary for reducing the number of people infected with COVID-19 and their mortality. In addition, promptness of their establishment is essential in order to reduce the number of deaths.

INTRODUCCIÓN: En América, Estados Unidos se vio particularmente afectado por la pandemia de COVID-19. OBJETIVOS: Estimar cuántas muertes diarias por COVID-19 por 100 000 habitantes se hubiesen evitado si cada una de las cinco medidas restrictivas se hubiera implementado en el momento del diagnóstico, así como estimar un modelo de regresión lineal múltiple predictivo del número de muertes por 100 000 habitantes basado en las medidas adoptadas por los países. MÉTODOS: Se realizó una regresión lineal simple entre los días transcurridos desde el primer caso diagnosticado de COVID-19 y la implantación de cada una de las cinco medidas restrictivas llevadas a cabo por los 27 países americanos estudiados y el número de muertes por COVID-19 por cada 100 000 habitantes. RESULTADOS: Por cada día entre el primer caso reportado de COVID-19 y la adopción de medidas restrictivas, fallecieron entre 0.250 (p = 0.021) y 0.600 (p = 0.001) pacientes por cada 100 000 habitantes, dependiendo de la medida en cuestión. CONCLUSIONES: La adopción de medidas restrictivas y la distancia social son necesarias para reducir el número de personas infectadas con COVID-19 y su mortalidad; además, la velocidad de su establecimiento es esencial para reducir el número de muertes.

Estimación del número de fallecimientos evitables por COVID-19 en relación con las medidas restrictivas adoptadas en Europa / Estimation of the number of preventable COVID-19 deaths in relation to the restrictive measures adopted in Europe

Resumen Introducción: En diciembre de 2019 surgió un nuevo coronavirus en Wuhan, China, que se ha convertido en un problema de salud global. Objetivo: Estimar cuántos fallecimientos diarios atribuibles a COVID-19 por cada 100 000 habitantes se podrían haber evitado si se hubiese llevado a cabo cada una de las cinco medidas restrictivas al momento del diagnóstico del primer caso, así como estimar un modelo de regresión lineal múltiple predictivo del número de fallecimientos por cada 100 000 habitantes. Métodos: Se realizó un modelo de regresión lineal simple entre los días transcurridos desde el primer caso diagnosticado de COVID-19, la implantación de cada una de las cinco medidas llevadas a cabo por los 39 países europeos estudiados, el número de camas hospitalarias por 1000 habitantes (variables independientes) y el número de fallecimientos por COVID-19 por 100 000 habitantes. Resultados: Por cada día transcurrido desde el primer caso notificado de COVID-19 hasta la adopción de las medidas restrictivas, fallecieron entre 0.611 (p = 0.004) y 1.863 (p = 0.000) pacientes por cada 100 000 habitantes, dependiendo de la medida implementada. Conclusiones: Las medidas restrictivas y el distanciamiento social, así como la celeridad de su instauración, son necesarios para lograr el descenso del número de contagios de COVID-19 y su mortalidad.

Abstract Introduction: In December 2019, a new coronavirus emerged in Wuhan, China, which has become a global health problem. Objectives: To estimate how many daily COVID-19 deaths per 100,000 population could have been avoided if each one of five restrictive measures had been implemented at the time the first case was diagnosed, and to estimate a multiple linear regression model predictive of the number of deaths per 100,000 population. Methods: A simple linear regression was performed between the days elapsed since the first COVID-19 diagnosed case, implementation of each one of the five restrictive measures carried out by the 39 European studied countries, the number of hospital beds per 1,000 population (independent variables) and the number of COVID-19 deaths per 100,000 population. Results: For each day elapsed from the first COVID-19 reported case to the adoption of restrictive measures, between 0.611 (p = 0.004) and 1.863 (p = 0.000) patients died per 100,000 population, depending on the implemented measure. Conclusions: Restrictive measures and social distancing, as well as promptness of their implementation, are necessary for achieving a decrease in COVID-19 infections and mortality.

Internet Study about Risk Factors Associated with HIV among Heterosexuals in Puerto Rico.

OBJECTIVE: Heterosexual intercourse is the main mode of HIV transmission among heterosexual women in Puerto Rico and the third for men. We conducted an Internetbased study of heterosexual young adults in Puerto Rico to explore their sexual practices, beliefs and decision-making skills for HIV prevention. Data presented in this study will help to understand the factors that contribute to the sexual transmission of HIV among heterosexuals within the Puerto Rican context. METHODS: We administered an online-based survey to a sample of 618 young adult heterosexual men and women. Data were collected using Perseus Survey Solutions software. RESULTS: Overall, most participants expressed they had the same sexual partner in the previous six months, never or almost never used male condoms with their main partner and did not perceive themselves at-risk of contracting HIV (have a low HIV risk perception). Men reported using male condoms more frequently than women (e.g. male condom on their male partner) during vaginal sex, in particular single and younger men. Women expressed more positive attitudes toward male condoms than men. CONCLUSION: Results confirm the need to implement interventions that increases the sense of vulnerability among heterosexuals, as well as skills and use of male condoms. This study contributes additional data on sexual practices and attitudes to encourage the identification of new or current changes in HIV protective or risk factors, specifically for an understudied population of Heterosexuals in Puerto Rico.

Mid-term follow-up of balloon pulmonary angioplasty for inoperable chronic thromboembolic pulmonary hypertension: An experience in Latin America.

OBJECTIVES: To describe the characteristics of patients who undergo balloon pulmonary angioplasty (BPA) for inoperable chronic thromboembolic pulmonary hypertension (CTEPH) and report the mid-term outcomes. BACKGROUND: BPA has been recently introduced in Latin America. Mid-term results have not been published. METHODS: Prospective Chilean Registry of inoperable CTEPH patients who underwent BPA. Clinical variables were analyzed at baseline, after each procedure and at follow-up. Hemodynamic variables were recorded before and after the last BPA. RESULTS: Between August 2016 and September 2019, 22 patients (17 women), 59 ± 12.7 years, underwent 81 BPA and were followed for as long as 33.1 months (mean 17.3 ± 7.5). Mean pulmonary artery pressure decreased by 17.4% (51.1 ± 12 vs. 42.2 ± 13 mmHg, p = .001), pulmonary vascular resistance by 23.9% (766.7 ± 351 vs. 583 ± 346 dynes/s/cm-5 , p = .001), cardiac index increased by 8% (2.3 ± 0.54 vs. 2.5 ± 0.54 L/min/m2 , p = .012), N-terminal pro-B-type natriuretic peptide decreased by 73.8% (1,685 ± 1,045 vs. 441.8 ± 276 pg/dl, p = .006), and 6-min walk distance improved by 135 m (316.7 ± 94 vs. 451.1 ± 113 m, p = .001). One patient (4.5%) developed lung reperfusion injury and four patients (18.2%) had minor bleeding (hemoptysis), after the procedure. There was no mortality associated with BPA. CONCLUSIONS: Our results confirm that BPA for inoperable CTEPH is a relatively safe procedure that improves clinical and hemodynamic parameters in the mid-term. This therapy should be considered as an alternative, mainly in places where access to PAH therapy or surgery is restricted.

Playful Educational Intervention for Improvement of Oral Health in Children with Hearing Impairment.

Dental care to vulnerable population is a pending issue in health policies due to the lack of appropriate and specialized strategies. Children with sensory deficits represent a challenge to professionals in prevention of oral diseases fundamentally due to communication problems. AIMS AND OBJECTIVES: This study was conducted to compare the simplified oral hygiene index (OHI-S) before and after a playful learning intervention in children with hearing impairment between 6 years and 11 years. STUDY DESIGN: Educational strategies were adopted for children with hearing impairment in Mexican Sign Language. The intervention consisted of three meetings explaining topics and activities of preventive content on health and oral hygiene for the children and their tutors. Simplified oral hygiene index was determinate before and after intervention. RESULTS: The mean of OHI-S score was 12% good status before the intervention and 64% after the application of the educational strategy. CONCLUSION: Teachers and dentists can enhance oral health promotion actions to children with hearing impairment in elementary institution using playful learning interventions. HOW TO CITE THIS ARTICLE: Ávila-Curiel BX, Solórzano-Mata CJ, Avendaño-Martínez JA, et al. Playful Educational Intervention for Improvement of Oral Health in Children with Hearing Impairment. Int J Clin Pediatr Dent 2019;12(6):491-493.

Burkholderia species associated with legumes of Chiapas, Mexico, exhibit stress tolerance and growth in aromatic compounds / Especies de Burkholderia asociadas a leguminosas de Chiapas, México exhiben tolerancia a estrés y crecimiento en compuestos aromáticos

Leguminous plants have received special interest for the diversity of β-proteobacteria in their nodules and are promising candidates for biotechnological applications. In this study, 15 bacterial strains were isolated from the nodules of the following legumes: Indigofera thibaudiana, Mimosa diplotricha, Mimosa albida, Mimosa pigra, and Mimosa pudica, collected in 9 areas of Chiapas, Mexico. The strains were grouped into four profiles of genomic fingerprints through BOX-PCR and identified based on their morphology, API 20NE biochemical tests, sequencing of the 16S rRNA, nifH and nodC genes as bacteria of the Burkholderia genus, genetically related to Burkholderia phenoliruptrix, Burkholderia phymatum, Burkholderia sabiae, and Burkholderia tuberum. The Burkholderia strains were grown under stress conditions with 4% NaCl, 45°C, and benzene presence at 0.1% as the sole carbon source. This is the first report on the isolation of these nodulating species of the Burkholderia genus in legumes in Mexico.

Las plantas leguminosas han recibido especial interés por la diversidad de β-proteobacteria que albergan en sus nodulos; algunas de estas bacterias son candidatas prometedoras para aplicaciones biotecnológicas. En el presente trabajo se aislaron 15 cepas bacterianas de los nodulos de las leguminosas Indigofera thibaudiana, Mimosa diplotricha, Mimosa albida, Mimosa pigra y Mimosa púdica, colectadas en 9 áreas de Chiapas, México. Las cepas fueron agrupadas en 4 perfiles de huellas genómicas por BOX-PCR e identificadas sobre la base de su morfología, pruebas bioquímicas API 20NE y secuenciación de los genes 16S ARNr, nifH y nodC como bacterias del género Burkholderia relacionadas genéticamente con Burkholderia phenoliruptrix, Burkholderia phymatum, Burkholderia sabiae y Burkholderia tuberum. Las cepas de Burkholderia crecieron en condiciones de estrés con NaCl al 4%, a una temperatura de 45°C y en presencia de benceno al 0,1% como única fuente de carbono. Este es el primer reporte del aislamiento de especies de Burkholderia nodulantes en leguminosas en México.

Burkholderia species associated with legumes of Chiapas, Mexico, exhibit stress tolerance and growth in aromatic compounds.

Leguminous plants have received special interest for the diversity of ß-proteobacteria in their nodules and are promising candidates for biotechnological applications. In this study, 15 bacterial strains were isolated from the nodules of the following legumes: Indigofera thibaudiana, Mimosa diplotricha, Mimosa albida, Mimosa pigra, and Mimosa pudica, collected in 9 areas of Chiapas, Mexico. The strains were grouped into four profiles of genomic fingerprints through BOX-PCR and identified based on their morphology, API 20NE biochemical tests, sequencing of the 16S rRNA, nifH and nodC genes as bacteria of the Burkholderia genus, genetically related to Burkholderia phenoliruptrix, Burkholderia phymatum, Burkholderia sabiae, and Burkholderia tuberum. The Burkholderia strains were grown under stress conditions with 4% NaCl, 45°C, and benzene presence at 0.1% as the sole carbon source. This is the first report on the isolation of these nodulating species of the Burkholderia genus in legumes in Mexico.

Gene Expression during BTEX Biodegradation by a Microbial Consortium Acclimatized to Unleaded Gasoline and a Pseudomonas putida Strain (HM346961) Isolated from It.

Pseudomonas putida strain (HM346961) was isolated from a consortium of bacteria acclimatized to unleaded gasoline-contaminated water. The consortium can efficiently remove benzene, toluene, ethylbenzene and xylene (BTEX) isomers, and a similar capability was observed with the P. putida strain. Proteome of this strain showed certain similarities with that of other strains exposed to the hydrocarbon compounds. Furthermore, the toluene di-oxygenase (tod) gene was up-regulated in P. putida strain when exposed to toluene, ethylbenzene, xylene, and BTEX. In contrast, the tod gene of P. putida F1 (ATCC 700007) was up-regulated only in the presence of toluene and BTEX. Several differences in the nucleotide and protein sequences of these two tod genes were observed. This suggests that tod up-regulation in P. putida strain may partially explain their great capacity to remove aromatic compounds, relative to P. putida F1. Therefore, new tod and P. putida strain are promising for various environmental applications.

¿Son el examen clínico, la mamografía y la ecografía métodos confiables para la valoración del tumor residual posterior a neoadyuvancia? / Are the Physical Examination, Ultrasonography and Mammography reliable methods for the assessment of residual tumor following neoadjuvant chemotherapy?

Introducción La quimioterapia neoadyuvante es un tratamiento válido en Estadios II y III de cáncer de mama, con la ventaja de que permite evaluar in vivo la respuesta y realizar mayor número de cirugías conservadoras. Para la decisión terapéutica es muy importante la valoración del tumor residual por clínica y/o por imágenes. Objetivo Determinar la capacidad del examen físico, la mamografía y la ecografía en la valoración del tumor residual y de la respuesta patológica completa. Material y método Examen retrospectivo de 24 pacientes tratadas con neoadyuvancia en el período 2010-2015, evaluadas con los tres métodos diagnósticos previamente al tratamiento quirúrgico. Resultados El tamaño tumoral estimado por cualquiera de los tres métodos tuvo una pobre correlación con el tamaño de la anatomía patológica (Índice kappa < 0,4 para los tres), con una exactitud en ± 0,5 cm del 33,3% para el examen físico, del 22,2% para la mamografía y del 18,2% para la ecografía. La valoración clínica preoperatoria de la axila presentó una sensibilidad del 53,8% y una especificidad del 81,8%. Conclusiones En nuestra experiencia, el examen físico, la mamografía y la ecografía presentan una pobre correlación con el tumor residual, lo que nos lleva a ahondar esfuerzos para mejorar la calidad de los mismos.

Introduction Neoadjuvant chemotherapy is a valid treatment in Stage II and III breast cancer, with the advantage that allows evaluation in vivo response and performs more conservative surgery. For therapeutic decision, it is very important the assessment of residual tumor by clinical examination and/or images. Objective Determine the capacity of physical examination, mammography and ultrasound in the assessment of residual tumor and pathological complete response. Materials and method Retrospective review of 24 patients treated with neoadjuvant chemotherapy between 2010-2015, evaluated with the three diagnostic methods prior to surgical treatment. Results Estimated by any of the three methods, tumor size had a poor correlation with the size of the Pathology (kappa index <0.4 for all three) with an accuracy of ± 0.5 cm 33.3% for physical examination, 22,2% for mammography and 18.2% for ultrasound. Clinical preoperatory assessment of the axilla had a sensitivity of 53.8% and a specificity of 81.8%. Conclusions In our experience, physical examination, mammography and ultrasound have a poor correlation with the residual tumor, leading us to deepen efforts to improve the quality of them.

Species Identity Supersedes the Dilution Effect Concerning Hantavirus Prevalence at Sites across Texas and México.

Recent models suggest a relationship exists between community diversity and pathogen prevalence, the proportion of individuals in a population that are infected by a pathogen, with most inferences tied to assemblage structure. Two contrasting outcomes of this relationship have been proposed: the "dilution effect" and the "amplification effect." Small mammal assemblage structure in disturbed habitats often differs from assemblages in sylvan environments, and hantavirus prevalence is often negatively correlated with habitats containing high species diversity via dilution effect dynamics. As species richness increases, prevalence of infection often is decreased. However, anthropogenic changes to sylvan landscapes have been shown to decrease species richness and/or increase phylogenetic similarities within assemblages. Between January 2011 and January 2016, we captured and tested 2406 individual small mammals for hantavirus antibodies at 20 sites across Texas and México and compared differences in hantavirus seroprevalence, species composition, and assemblage structure between sylvan and disturbed habitats. We found 313 small mammals positive for antibodies against hantaviruses, evincing an overall prevalence of 9.7% across all sites. In total, 40 species of small mammals were identified comprising 2 taxonomic orders (Rodentia and Eulipotyphla). By sampling both habitat types concurrently, we were able to make real-world inferences into the efficacy of dilution effect theory in terms of hantavirus ecology. Our hypothesis predicting greater species richness higher in sylvan habitats compared to disturbed areas was not supported, suggesting the characteristics of assemblage structure do not adhere to current conceptions of species richness negatively influencing prevalence via a dilution effect.

Alteraciones de la diferenciación sexual en pacientes de las regiones Capital y centro occidental de Venezuela / Disorders of sexual differentiation in patiens from the capital and west Center Regions of Venezuela

Las alteraciones de la diferenciación sexual (ADS) son patologías originadas por trastornos en una de las tres etapas sucesivas de dicha diferenciación: cromosómica (XX, XY), gonadal (testículo, ovario) o fenotípica. El objetivo del trabajo fue dar a conocer la forma de presentación de las ADS en pacientes provenientes de las regiones Capital y Centro Occidental de Venezuela. Se incluyeron diecisiete pacientes y se elaboraron los árboles genealógicos, se realizó evaluación clínica, estudios hormonales, citogenéticos, imagenología y determinación de marcadores del gen SRY y microsatélites del cromosoma Y. En función de la evaluación clínica y los datos obtenidos de los exámenes practicados, se efectuaron los diagnósticos siguientes: a) Doce corresponden a ADS 46,XX , de los cuales siete pacientes tienen ADS por exceso de andrógenos, un caso con reversión sexual, un ADS ovotesticular, un caso con síndrome malformativo, uno con disgenesia gonadal y uno con hipogonadismo, b) Cuatro presentan ADS 46,XY (un paciente con síndrome de Smith-Lemli-Opitz II, uno con síndrome malformativo y dos casos con hipogonadísmo), c) Un caso de ADS por alteración cromosómica 46,XXY (síndrome de Klinefelter). En relación a la edad de la primera consulta, la mayor parte (47,1%) se realizó en menores de 5 años, referidos por ambigüedad sexual con necesidad de resolver la identificación del sexo; en la pubertad los pacientes consultan por alteraciones en los caracteres sexuales secundarios y amenorrea (adolescentes); en la adultez por infertilidad. Los resultados permitieron realizar un mejor asesoramiento genético y contribuir a mejorar la calidad de vida de los pacientes y sus grupos familiares.

Disorders of sexual differentiation (DSD) are pathologies characterized by an atypical development of chromosomal (XX, XY) gonadal (testis, ovary) or phenotypical sex. The objective of this work was to inform the presentation forms of SDS in patients from the Capital and West Center regions of Venezuela. Seventeen patients were included and the pedigrees, clinical evaluation, hormonal studies, cytogenetic, imaging and identification of SRY gene markers and Y chromosome microsatellites were made. Depending on the clinical evaluation and data from examinations carried out, the following diagnoses were made: a)Twelve patients correspond to DSD 46, XX, of which seven patients have DSD by androgen excess, a case with sex reversal a ovotesticular DSD, a case with malformation syndrome, one with gonadal dysgenesis and one hypogonadism; b) Four patients presented DSD 46, XY (a patient with Smith-Lemli-Opitz syndrome II, one malformation syndrome and two cases with hypogonadism) c) A case of ADSs by chromosomal abnormality 46,XXY (Klinefelter syndrome). In relation to age of first consultation, the majority (47.1%) was performed in children under 5 years, referred by sexual ambiguity with need to address sex identification. In puberty, the patients consult due to alterations in secondary sexual characteristics and amenorrhea in teenagers, in adulthood due to infertility. The results helped to make a better genetic counseling and to improve the quality of life of patients and their families.

Cryptosporidiosis: a neglected infection and its association with nutritional status in schoolchildren in northwestern Mexico.

INTRODUCTION: Undernutrition is a recognized public health problem in Mexican children and cryptosporidiosis is probably a factor contributing to this problem. However, it remains a neglected and poorly attended infection in Mexico. This study aimed to determine the prevalence of Cryptosporidium parvum and to establish its association with the nutritional status in schoolchildren of northwestern Mexico. METHODOLOGY: A total of 405 schoolchildren between 6 and 13 years of age were included in this study. Weight-for-age (W/A), height-for-age (H/A) and body mass index-for-age (BMI/A) Z scores were calculated. The Faust technique was used to detect intestinal parasites in stool samples and C. parvum coproantigen was detected by enzyme-linked immunosorbent assay (ELISA). RESULTS: The overall prevalence of C. parvum was 28.4%. Some of the study children were C. parvum free (n = 86) and some were C. parvum infected (n = 77). The prevalences of risk of undernutrition found in both groups of children for H/A, W/A, and BMI/A Z scores were 18%, 21% and 28%, respectively. Weight, ZW/A, and ZH/A were significantly higher in the C. parvum-free group compared to the C. parvum-infected group (p ≤ 0.05). The children with cryptosporidiosis were 2.7 times more likely to be at risk of undernutrition by W/A Z score and 2.9 times more likely to be at risk of undernutrition by ZH/A than were the C. parvum-free children. CONCLUSIONS: Cryptosporidiosis may be a contributing factor to childhood undernutrition in northwestern Mexico. The proper authorities must implement control and prevention measurements in Mexico and other developing countries.