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Abstract Introduction As 30 to 50% of deep venous thrombosis (DVT) cases remain idiopathic, an increased focus on hematologic variables may therefore reveal novel correlates of DVT. Very few studies have investigated the association of hematological parameters with DVT and the causal relationship between them is still to be elucidated. Therefore, we aimed to investigate the association between serial values of hematologic variables and DVT. Methods Complete blood count parameters were serially measured at baseline and then at approximately 3-month intervals for 12 months in 152 adults with the first episode of DVT and 152 age- and sex-matched controls. The odds ratio (OR) with the 95% confidence interval (95%CI) was calculated as a measure of association between hematological parameters and DVT. Results The red cell distribution width (RDW) was the only hematologic variable which showed an independent and consistent association with DVT at all time points (multivariable-adjusted OR [95%CI] 3.38 [1.28 - 8.91] at baseline, 2.24 [0.85 - 5.92] at 3 months and 2.12 [0.81 - 5.55] at 12 months for RDW > 14.0%). This association was higher for provoked DVT than unprovoked DVT and for DVT plus pulmonary embolism than DVT alone. No significant correlation was found between the high RDW and classical thrombotic risk factors, except malignancy. Conclusions We demonstrated an independent and consistent association of the high RDW with the first episode of DVT in adult patients. The study was probably underpowered to evaluate the association between the high RDW and recurrent DVT. Further large studies with long follow-up are needed to confirm this association.
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Background Two new SNPs have been recently associated to Alzheimer's disease in African American populations: FCGRIIB rs1050501 C/T, and PILRA rs1859788 A/G. The risk of Alzheimer's disease in FCGRIIB C and PILRA A allele carriers is three times higher than in non-carriers. However, the association between these and other single nucleotide polymorphisms (SNPs) has not been assessed. Methods Linkage disequilibrium analysis, with r= 0.8 as a threshold value, was used to impute new candidate SNPs, on genomic data from both genes in 26 populations worldwide (n= 2504) from the 1000Genomes database. Results Four SNPs (rs13376485, rs3767640, rs3767639 and rs3767641) were linked to rs1050501 and one (rs2405442) to rs1859788 in the whole sample. Conclusions Five novel SNPs could be associated with Alzheimer's disease susceptibility and play a causal role, even if none of them are exon variants since their potential roles in the regulation of gene expression.
Antecedentes Recientemente se han asociado dos nuevos polimorfismos de un solo nucleótido (SNP) a la enfermedad de Alzheimer en poblaciones afroamericanas: FCGRIIB rs1050501 C/T, y PILRA rs1859788 A/G. El riesgo de enfermedad de Alzheimer en los portadores de los alelos FCGRIIB C y PILRA A es tres veces mayor que en los no portadores. Sin embargo, no se ha evaluado la asociación entre estos y otros SNP. Métodos Se utilizó el análisis de desequilibrio de ligamiento, con r2= 0,8 como valor umbral, para imputar nuevos SNPs candidatos, sobre datos genómicos de ambos genes en 26 poblaciones de todo el mundo (n= 2504) de la base de datos 1000Genomes. Resultados Cuatro SNPs (rs13376485, rs3767640, rs3767639 y rs3767641) se vincularon al rs1050501 y uno (rs2405442) al rs1859788 en toda la muestra. Conclusiones Cinco nuevos SNP podrían estar asociados con la susceptibilidad a la enfermedad de Alzheimer y desempeñar un papel causal, aunque ninguno de ellos sea una variante de exón, dado su papel potencial en la regulación de la expresión génica.
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Abstract The incidences of periodontitis and osteoporosis are rising worldwide. Observational studies have shown that periodontitis is associated with increased risk of osteoporosis. We performed a Mendelian randomization (MR) study to genetically investigate the causality of periodontitis on osteoporosis. We explored the causal effect of periodontitis on osteoporosis by MR analysis. A total of 9 single nucleotide polymorphisms (SNP) were related to periodontitis. The primary approach in this MR analysis was the inverse variance-weighted (IVW) method. Simple median, weighted median, and penalized weighted median were used to analyze sensitivity. The fixed-effect IVW model and random-effect IVW model showed no significant causal effect of genetically predicted periodontitis on the risk of osteoporosis (OR=1.032; 95%CI: 0.923-1.153; P=0.574; OR=1.032; 95%CI: 0.920-1.158; P=0.588, respectively). Similar results were observed in simple mode (OR=1.031; 95%CI: 0.780-1.361, P=0.835), weighted mode (OR=1.120; 95%CI: 0.944-1.328, P=0.229), simple median (OR=1.003; 95%CI: 0.839-1.197, P=0.977), weighted median (OR=1.078; 95%CI: 0.921-1.262, P=0.346), penalized weight median (OR 1.078; 95%CI: 0.919-1.264, P=0.351), and MR-Egger method (OR=1.360; 95%CI: 0.998-1.853, P=0.092). There was no heterogeneity in the IVW and MR-Egger analyses (Q=7.454, P=0.489 and Q=3.901, P=0.791, respectively). MR-Egger regression revealed no evidence of a pleiotropic influence through genetic variants (intercept: -0.004; P=0.101). The leave-one-out sensitivity analysis indicated no driven influence of any individual SNP on the association between periodontitis and osteoporosis. The Mendelian randomization analysis did not show a significant detrimental effect of periodontitis on the risk of osteoporosis.
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ABSTRACT Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. Methods: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease. Ophthalmic examination, fundus imaging, and next-generation sequencing were performed to evaluate pathogenic variants related to the phenotypes. Results: Patients presented macular atrophy and pigmentary changes suggesting Stargardt disease. The phenotypes of the two patients were associated with autosomal dominant inheritance pattern genes (RIMS1 and CRX) and in the other two patients were associated with recessive dominant inheritance pattern genes (CRB1 and RDH12) with variants predicted to be pathogenic. Conclusion: Macular dystrophies may have phenotypic similarities to Stargardt-like phenotype associated with other genes besides the classic ones.
RESUMO Objetivo: Fenótipos Stargardt-like já foram asso-ciados a variantes patogênicas no gene ABCA4. O propósito desse estudo é descrever quatro pacientes com achados retinianos semelhantes a doença de Stargardt com resultados moleculares diferentes do esperado. Métodos: Esse relato fez a revisão de prontuários médicos de quatro pacientes com distrofia macular e achados clínicos sugestivos de doença de Stargardt. Foram realizados avaliação oftalmológica, exames de imagens e testes usando next generation sequencing para avaliar variantes patogênicas associadas aos fenótipos dos pacientes. Resultados: Os pacientes apresentavam atrofia macular e alterações pigmentares sugerindo achados clínicos de doença de Stargardt. Dois pacientes foram associados a genes com herança autossômica dominante (RIMS1 e CRX) e dois pacientes foram associados a genes com herança autossômica recessiva (CRB1 e RDH12) com variantes preditoras de serem patogênicas. Conclusão: Distrofias maculares podem ter similaridades fenotípicas com fenótipo de Stargardt-like associados a outros genes além dos classicamente já descritos.
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ObjectivesTo understand the prevalence of hyperhomocysteinemia （HHcy） in the Tibetan population in Northwest Xizang， and its association with lipids and blood uric acid， and to explore the prevention and treatment strategies for chronic diseases such as HHcy in Northwest Xizang. MethodsIn this survey， questionnaires， physical examinations， and biochemical tests were conducted on 3432 Tibetan residents aged 18 years and older who had resided in Northwest Xizang （Ngari Prefecture， Nagqu City） for more than 6 months using a multistage stratified whole cluster random sampling method. ResultsThe prevalence of HHcy among Tibetan residents in Northwest Xizang was 75.7%， much higher than that of the average population in China （37.2%）. Blood uric acid、high-density lipoprotein cholesterol and low-density lipoprotein cholesterol were risk factors for HHcy. ConclusionThe prevalence of HHcy is higher in the Tibetan population in northwest Xizang. Therefore， the local governments should urge people to establish a healthy lifestyle and enhance early intervention for HHcy by improving diet and lifestyle， thereby reducing the risk of cardiovascular， cerebrovascular and other related diseases.
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Eggplant is an important horticultural crop and one of the most widely grown vegetables in the Solanaceae family. Eggplant fruit-related agronomic traits are complex quantitative traits with low efficiency and long cycle time for traditional breeding selection. With the rapid development of high-throughput sequencing technology and bioinformatics tools, genome-wide association study (GWAS) has shown great application potential in analyzing the genetic rules of complex agronomic traits related to eggplant fruits. This paper first reviews the progress of genome-wide association analysis in eggplant fruit shape, fruit color and other fruit-related agronomic traits. Subsequently, aiming at the problem of missing heritability, which is common in the genetic studies of eggplant quantitative traits, this paper puts forward the development strategies of eggplant GWAS in the future based on the hot spots of application of four GWAS strategies in the research of agronomics traits related to eggplant fruits. Lastly, the application of GWAS strategy in the field of eggplant molecular breeding is expected to provide a theoretical basis and reference for the future use of GWAS to analyze the genetic basis of various eggplant fruit-related traits and to select fruit materials that meet consumer needs.
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Solanum melongena/génétique , Fruit/génétique , Étude d'association pangénomique , Amélioration des plantes , Agriculture , LégumesRésumé
In recent years， the research method of Mendelian randomization based on genome-wide association studies has been widely used for etiological exploration in the medical field， which can effectively overcome the confounding biases and interference of reverse causalities in traditional observational researches with its unique advantages of the distributive randomness and timing priority of genetic variants. This article reviews the method of Mendelian randomization and its application in liver cancer， in order to provide new ideas for the research on causal association in liver cancer.
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Objective@#The American Heart Association released the Life s Essential 8 (LE 8) for the overall evaluation of cardiovascular health (CVH) on individual level. The present study aimed to describe the overall CVH in Chinese school aged children using LE 8 metrics.@*Methods@#Data of the present analysis came from a national representative multicentered cross sectional study conducted in 7 provinces of China in 2013. The original study used a multistage cluster sampling method. A total of 10 326 children aged 5 to 19 years with complete data of health behaviors and health outcomes were included in the study. Children s health behavior indicators included diet, physical activity, nicotine exposure and sleep health. Health outcome factors included body mass index, fast blood glucose, lipid profile and blood pressure.@*Results@#The median CVH score was 73.3 ( IQR =14.4) in boys and 73.4 ( IQR = 13.5) in girls. Compared to children aged ≤9 years, the health behavior scores were lowest in the 13-15 age group, with boys scoring 7.73 lower (95% CI =-8.35--7.12, P <0.01) and girls scoring 9.15 (95% CI =-9.83--8.48, P <0.01) lower. The ≥16 age group had the lowest health outcome scores, with boys scoring 7.85 (95% CI =-9.07--6.63, P <0.01) lower and girls scoring 6.11 (95% CI =-7.12--5.09, P <0.01) lower.@*Conclusions@#Chinese school aged children are generally at a moderate level of cardiovascular health. Specific LE 8 components vary substantially between groups and therefore require targeted intervention strategies.
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Objective@#To evaluate the bidirectional association between periodontitis and Sjögren's syndrome using the Mendelian randomization (MR) method.@*Methods@#Genome-wide association study (GWAS) data of periodontitis (N = 45 563) and Sjögren's syndrome (N = 214 435) were selected to meet the requirements of the same ethnicity and different regions. Inverse variance-weighted (IVW), MR-Egger, and weighted median (WM) tests were used to evaluate the causal effect. Cochran's Q statistics, MR-Egger intercept, MR-PRESSO and leave-one-out analysis were used as sensitivity analyses to assess the stability and reliability of the results.@*Results@#After screening, the GWAS data of Sjögren's syndrome were based on the Finnish region, and the periodontitis GWAS data were based on the UK region, both of which originated from European ancestry. Using IVW (OR = 1.017, 95% CI = 0.956-1.082), MR-Egger (OR = 0.985, 95% CI= 0.956-1.082), and WM (OR =1.021, 95% CI = 0.948-1.099), no causal effect of Sjögren's syndrome on periodontitis was found using any of the three methods. Conversely, no causal effect of periodontitis on Sjögren's syndrome was found (IVW, OR = 1.024, 95% CI = 0.852-1.230; MR-Egger, OR = 0.978, 95% CI = 0.789-1.212; WM, OR = 1.024, 95% CI = 0.846-1.260). The sensitivity analyses indicated that the results were stable and reliable. Cochran's Q test and MR-PRESSO revealed that there was no significant heterogeneity among the instrumental variables, which included single nucleotide polymorphisms (SNPs). The intercept of MR-Egger regression indicated no pleiotropy in the included SNPs. No individual SNP was found that significantly affected the results using the leave-one-out method.@*Conclusion@#This study does not support a bidirectional causal effect between periodontitis and Sjögren's syndrome.
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China Clinical Cases Library of Traditional Chinese Medicine is built to promote the establishment of a scientific and technological talent evaluation system oriented on innovative value， ability and contribution in the backgroud of breaking the four only and setting new standards required by the document jointly issued by several national administrations and commissions. In the process of the construction， in order to further consolidate the foundation and ensure the quality and authority of case reports， we need to fully understand the origin and development of Chinese medical cases. Therefore， we clarified the development situation of Chinese medical cases by combing the characteristics of ancient and modern case reports， comparing the differences between Chinese and western medical case reports in terms of content and writing requirements， finally formed the main points of systematic case report norms and quality evaluation system， aiming to fully explore the unique advantages of Chinese medical cases in the fields of discipline development， scientific research innovation， clinical practice and guidance， talent evaluation and training， so as to promote its innovative development in a broader direction.
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Abstract Background: Arterial hypertension (AH) is a chronic disease distributed worldwide, and the Angiotensin II receptor type 2 (AGTR2) gene variants are potential DNA markers to study in association with this disease. Objective: This systematic review (SR) aimed to identify single nucleotide variants in the AGTR2 gene as genetic markers associated with AH. Methods: The electronic databases MEDLINE, Web of Science, SCOPUS, Cochrane Central Register, EMBASE, SciELO, and TripDatabase were searched for research up to September 2023. Case-control studies with DNA variants in the AGTR2 gene associated with AH as the outcome were included in the review. Boolean connectors and keywords were used according to each database. Results: After diverse rounds of scrutiny, a final number of eight articles were included for 8911 participants, comprising 5451 cases and 3460 controls. A significant proportion of the selected studies were performed in Asian populations and were heterogeneous. Although 238 variants were shown in the gnomAD v2.1.1 database for September 2023, only six variants were identified in all the analyzed studies. Conclusions: The results obtained were not conclusive that a specific variant located in the AGTR2 gene has a strong association with AH. The study of this gene re-emerged last year as an essential target to investigate due to its participation in the development of agonist therapy to treat mild COVID-19 cases. Future studies with better statistical power are desirable to replicate the primary findings.
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ABSTRACT Zygothrica is a genus of Drosophilidae (Diptera) whose species utilize flowers and fungi for breeding sites, with records of fungi being used as courtship arena. Due to this habit, its representation in Drosophilidae surveys using banana-baited traps is generally low. However, Zygothrica orbitalis was well represented in a few samples with these traps. In this study, we report for the first time the breeding site of Z. orbitalis in living fruits of Psychotria brachyceras (Rubiaceae), noting that the use of living fruits is rare among Drosophilidae. The fructification of the plant occurs in the area of study from May to August, with previous collection records of the species in the Restinga (sandbank or strand) forest. Additionally, the emergence of some individuals of the invasive species Drosophila suzukii was observed, which highlights the necessity for continuous study of this plant to understand the dynamics between a native and an exotic species. Besides the ecological importance, our results are relevant for understanding the evolution of trophic resource use by the Zygothrica genus.
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In November 2023, the American Heart Association and the American Academy of Pediatrics jointly released key updates to the neonatal resuscitation guidelines based on new clinical evidence. This update serves as an important supplement to the "Neonatal resuscitation: 2020 American Heart Association guidelines for cardiopulmonary resuscitation and emergency cardiovascular care". The aim of this paper is to outline the key updates and provide guidance on umbilical cord management and the selection of positive pressure ventilation equipment and its additional interfaces in neonatal resuscitation.
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Humains , Nouveau-né , Enfant , États-Unis , Réanimation , Association américaine du coeur , Compléments alimentaires , Services des urgences médicales , Ventilation en pression positive intermittenteRésumé
ABSTRACT BACKGROUND AND OBJECTIVES: In Intensive Care Units (ICU), patients are exposed to multiple procedures that can be painful, and health professionals are not always aware of the pain in these patients. Inadequate pain assessment and management, in turn, has been associated with several adverse outcomes, including an increased rate of infection, prolonged mechanical ventilation, hemodynamic disturbances, delirium, and compromised immunity. Thus, this study aimed to summarize the scientific evidence about the incidence and impacts of pain in critically ill patients. CONTENTS: A systematic review of observational studies (Pubmed and EMBASE databases) was performed with predetermined eligibility criteria. In the 32 studies included, it was identified that 10.1% to 61% of patients had pain at rest and 27.4% to 94% during procedures. In addition, there was evidence of improvement in patient outcomes after using validated instruments for pain measurement, including decreased length of ICU stay, duration of mechanical ventilation, mortality, delirium, adverse events, and disease severity. CONCLUSION: Through the present study, it was observed that pain is a common phenomenon in ICU and that its identification and management constitute a realistic goal and depend on the evaluation. Furthermore, pain appears to be associated with worse clinical outcomes. Therefore, efforts must be made to provide comprehensive care for critically ill patients, aiming not only at their survival, but also at alleviating their suffering.
RESUMO JUSTIFICATIVA E OBJETIVOS: Nas Unidades de Terapia Intensiva (UTI) os pacientes são expostos a múltiplos procedimentos que podem ser dolorosos, e nem sempre os profissionais de saúde estão alertas para a dor nesses pacientes. A avaliação e o manejo inadequado da dor, por sua vez, têm sido associados a uma série de resultados adversos, incluindo aumento da taxa de infecção, ventilação mecânica prolongada, distúrbios hemodinâmicos, delírio e imunidade comprometida. Dessa forma, este estudo teve como objetivo sumarizar as evidências científicas acerca da incidência e dos impactos da dor em pacientes críticos. CONTEÚDO: Foi realizada uma revisão sistemática de estudos observacionais (bases de dados Pubmed e EMBASE) com critérios de elegibilidade predeterminados. Nos 32 estudos incluídos, foi identificado que de 10,1% a 61% dos pacientes apresentaram dor em repouso, e de 27,4% a 94% apresentaram dor durante os procedimentos. Além disso, houve evidências de melhora nos resultados dos pacientes após o uso de instrumentos validados para a mensuração da dor, incluindo diminuição do tempo de permanência na UTI, duração da ventilação mecânica, mortalidade, delírio, eventos adversos e gravidade da doença. CONCLUSÃO: Através do presente estudo foi observado que a dor representa um fenômeno comum nas UTI e que a sua identificação e manejo constitui uma meta realista e dependente da avaliação. Além disso, a dor parece estar associada a piores desfechos clínicos. Sendo assim, deve-se voltar esforços para o cuidado integral ao paciente crítico, objetivando não só sua sobrevivência, mas também o alívio do seu sofrimento.
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Frequency, association and impact measures are key concepts in clinical epidemiology; however, it has been found that a considerable proportion of health students and professionals have no knowledge of how to use or interpret them when reading a scientific paper or conducting research. This article aims to explain the main epidemiological measures, how they are used, derived and interpreted. They are approached from the perspective of each of the most frequently used types of primary quantitative research studies (randomized clinical trials, cohort studies, case-control estudies and cross-sectional studies) in order to provide the reader with the context in which they are used. Moreover, the process for calculating and interpreting each result in a real setting is explained using clinical examples for a better understanding of these concepts and in order to prevent their use from becoming just a mechanical or repetitive exercise.
Las medidas de frecuencia, asociación e impacto son conceptos fundamentales de la epidemiología clínica; sin embargo, se ha encontrado que una parte considerable de los estudiantes y de los profesionales en el área de la salud no sabe cómo usarlas ni cómo interpretarlas al leer un texto científico o al hacer una investigación. Este artículo busca explicar las principales medidas epidemiológicas, cuándo se usan, cómo se obtienen y cómo se interpretan. Se abordan desde cada tipo de estudios primarios más frecuentemente utilizados cuando se realizan investigaciones cuantitativas (ensayos clínicos aleatorizados, estudios de cohorte, casos y controles y estudios de corte transversal), con el fin de darle al lector el contexto en el cual se usan. Además, mediante ejemplos clínicos, se explica el proceso para calcular e interpretar cada resultado en un escenario real, con el fin de lograr una mayor comprensión de estos conceptos y de que su uso no sea un ejercicio mecánico o de repetición.
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Abstract Background: Globally, few studies have been undertaken to assess the association of acanthosis nigricans (AN) with metabolic syndrome (MS). Most of the available studies have either focused on a particular age group, gender, ethnicity or on a single component of MS. Objectives: To determine the association between AN and MS as a whole and with all individual components of MS in adult patients of either gender. Material and methods: This was a cross-sectional study with a comparative group. Eighty-one subjects were recruited in each group. Fasting plasma glucose (FPG) and lipid profile were done. MS was defined by using the international diabetic federation (IDF) criteria. Association of body mass index (BMI), waist circumference, blood pressure, FPG, high-density lipoprotein (HDL) and triglycerides (TG) with AN was assessed by Pearson's chi-square test followed by univariate and multivariate analysis. Results: The prevalence of MS was found to be significantly higher in the group with AN. On univariate analysis, a significant association of AN was found with BMI, waist circumference, high systolic and diastolic blood pressure, HDL, and TG. Multivariate analysis revealed a significant association between waist circumference, high systolic and diastolic blood pressure, and high TG levels with AN. The risk of MS was found to be eight times higher in cases of AN. Study limitations: The small sample size and single-center data are the limitations of the present study. Conclusion: AN is strongly associated with MS as a whole and with its individual components including increased waist circumference, hypertension, and dyslipidemia.
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Este artículo describe las dinámicas socioculturales presentes en Puerto Claver, El Bagre, Antioquia, a causa del contexto económico minero. El enfoque fenomenològico permitió un acercamiento a las realidades sociales a partir de la cotidianidad de las personas, de sus experiencias vitales y relatos. Un resultado es que la práctica extractiva de oro, arraigada en el corregimiento como la principal alternativa económica, genera desarraigo frente a otras formas de sobrevivencia, como la cosecha y siembra de alimentos y plantas medicinales, la pesca y la apicultura. Al transformarse las prácticas económicas y productivas, así como la relación con el medio ambiente, cambian también las relaciones sociales, las dinámicas socioculturales preexistentes y el tejido social y comunitario. En este contexto, las asociaciones de mujeres tienen un papel significativo en la resignificación y dinamización de procesos económicos alternativos a la práctica minera, a través de los cuales puedan transformar las relaciones sociales y comunitarias.
This article describes the socio-cultural dynamics present in the village of Puerto Claver, municipality of El Bagre, Antioquia, as a result of the mining economic context. The phenomenological approach allowed an approach to the social realities from the daily life of the people, their life experiences and stories. One result is that the practice of gold mining, rooted in the township as the main economic alternative, generates uprooting compared to other forms of survival, such as harvesting and planting food and medicinal plants, fishing and beekeeping. As economic and productive practices are transformed, as well as the relationship with the environment, social relations, pre-existing socio-cultural dynamics and the social and community fabric also change. In this context, women's associations have a significant role to play in re-signifying and energizing alternative economic processes to mining practices, through which they can transform social and community relations.
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RESUMEN Introducción : Las miocardiopatías se definen como un trastorno del miocardio en el que el músculo cardíaco es estructural y funcionalmente anormal, en ausencia de enfermedad arterial coronaria, hipertensión arterial (HTA), enfermedad valvular y enfermedad cardíaca congénita. Estas enfermedades son relativamente frecuentes, y suponen una importante causa de morbimortalidad a nivel global. Aunque el estudio genético se recomienda para el cribado familiar, la falta de datos robustos sobre asociaciones genotipo-fenotipo específicas ha reducido su impacto en el manejo clínico. Objetivos : El objetivo de este estudio es analizar la frecuencia de mutaciones en una población de pacientes con miocardiopatía derivados a un centro de alta complejidad y el análisis de la correlación genotipo-fenotipo en las mutaciones identificadas. Material y métodos: Se estudiaron en forma prospectiva 102 pacientes con sospecha de miocardiopatía hipertrófica (MCH) familiar, de los cuales 70 constituían casos índices, de una cohorte ambispectiva de pacientes con miocardiopatías controladas en un hos pital público de alta complejidad de tercer nivel de atención de la provincia de Buenos Aires, desde enero 2012 al 30 agosto 2022. Resultados : De 102 pacientes 83 fueron considerados afectados. De eelos, 31 eran MCH y 52 fenocopias, sin diferencia en el pronóstico. Se realizó estudio genético en 77 pacientes, de los cuales 57 presentaron mutaciones reconocibles, en el 80% de los casos coincidentes con un Score de Mayo ≥3. Se detectaron 28 variantes de significado incierto. Conclusiones : Se comprobó que realizar estudio molecular guiado por el Score de Mayo permitió obtener un alto grado de probabilidad de detectar mutaciones. Se evidenció la importancia del estudio molecular debido a la existencia de solapamiento fenotípico y genotípico de las miocardiopatías. El conocimiento de la variante genética causal actualmente no afecta el manejo clínico de la mayoría de los pacientes con MCH, pero es de ayuda ante un pequeño grupo de genes que tienen opciones de tratamiento.
ABSTRACT Background : Cardiomyopathies are defined as a disorder of the myocardium in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension (HT), valvular heart disease and congenital heart disease. These diseases are relatively common and a major cause of morbidity and mortality worldwide. Although genetic testing is recommended for family screening, lack of solid data on specific genotype-phenotype associations has reduced its impact on clinical management. Objectives : This study aims to analyze the frequency of mutations in a population of patients with cardiomyopathy referred to a tertiary healthcare center and to analyze the genotype-phenotype correlation of the identified mutations. Methods : We prospectively included 102 patients with suspected familial hypertrophic cardiomyopathy (HCM), 70 of which were index cases, from an ambispective cohort of patients with cardiomyopathies treated in a tertiary healthcare public hos pital in the province of Buenos Aires, from January 2012 to August 30, 2022. Results : Of 102 patients, 83 were considered affected. Of these, 31 were HCM and 52 were phenocopies, with no difference in prognosis. A genetic study was carried out in 77 patients, of whom 57 presented recognizable mutations, in 80% of the cases coinciding with a Mayo Score ≥3. Twenty-eight variants of uncertain significance were detected. Conclusions : It was confirmed that molecular testing guided by the Mayo Score provided high probability of detecting mutations. Molecular testing proved to be important due to the phenotypic and genotypic overlap in cardiomyopathies. Understanding the causative genetic variant, nowadays, does not affect the clinical management of most HCM patients, but is helpful in a small group of genes with treatment options.
Résumé
Objetivo: Analisar eventos de risco associados ao comportamento suicida em indivíduos atendidos em emergência geral. Métodos: Pesquisa exploratória, descritiva, abordagem qualitativa. Coleta de dados entre dezembro de 2017 e novembro de 2019, com pessoas que tentaram o suicídio, por meio de entrevista com questionário semiestruturado. Dados analisados com Análise de Conteúdo temático. Resultados: Entrevistados 113 participantes, 86 (76,1%) do sexo feminino, 57 (50,4%) na faixa etária entre 18 e 30 anos, 103 (91,2%) heterossexuais, 49 (43,4%) solteiros. Conforme a análise dos dados, o conteúdo foi agrupado em uma categoria com quatro unidades temáticas que deram ênfase às relações familiares traumáticas, presença de histórico de experiências traumáticas para além da família, condições socioeconômicas ecomportamento impulsivo e a percepção de inexistência de fatores de proteção. Sabe-se que no comportamento suicida há interferência das relações com familiares, com amigos e com outras pessoas com as quais haja relacionamento afetivo importante, de forma que o bom vínculo familiar assume papel de proteção ao comportamento suicida, enquanto vínculos familiares conflituosos são potenciais fatores de risco. Considerações finais: Resultados revelaram a experiência da multiplicidade de eventos que influenciaram a decisão pelo suicídio, ênfase para relações afetivas e familiares prejudicadas e experiências traumáticas (AU).
Objective: Analyze risk events associated with suicidal behavior in individuals seen in general emergency care. Methods: Exploratory, descriptive research, qualitative approach. Data were collected from December 2017 to November 2019 with people who attempted suicide through an interview with a semi-structured questionnaire. Data reviewed with thematic Content Analysis. Results: This survey interviewed 113 participants, 86 (76.1%) female, 57 (50.4%) aged between 18 and 30 years, 103 (91.2%) heterosexual, and 49 (43.4%) single. According to the data analysis, the content was grouped into one category with four thematic units that emphasized traumatic family relationships, the presence of a history of traumatic experiences beyond the family, socioeconomic conditions, impulsive behavior, and the perception of the nonexistence of protective factors. It is known that suicidal behavior is influenced by relationships with family members, friends, and other people with whom there is an important emotional relationship. Good family bonds, thus, take on a protective role against suicidal behavior, while conflicting family bonds are potential risk factors. Final remarks: Results disclosed the experience of the multiplicity of events that influenced the decision to commit suicide, emphasizing damaged affective and family relationships and traumatic experiences (AU).
Sujets)
Humains , Mâle , Femelle , Adulte , Tentative de suicide , Facteurs de risqueRésumé
There are various determinants of the Effective Tax Rate of a company. This study attempts to ?nd out whether industry association impact Effective Tax Rates. Tax Rates and Tax Laws are speci?c to jurisdictions, and the results may vary from jurisdiction to jurisdiction. The study focuses on Indian conditions to examine the relationship between industry classi?cation and the Effective Tax Rate (ETR) of companies. The study covers the standalone ?nancials of the top 500 listed companies. Results show a signi?cant impact of the industry association on the Average Effective Tax Rate