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This paper examines how participants in genetic counseling sessions interactionally manage situations where the results of tests to investigate the causes of identified fetal malformations are inconclusive or missing. The dataset consists of 54 audio-recorded interactions at a unit specialized in moderate- and high-risk pregnancies at a Brazilian public hospital. Conversation analysis was used to examine the data, revealing that the participants deployed interactional actions that exhibited highly negative valence toward diagnostic inconclusiveness, demonstrating that when there is a motivation for a medical examination, insofar as its results will serve as a basis for subsequent decision-making (in this case about future pregnancies), there is a preference for bad diagnostic news over absent or inconclusive diagnostic news. These findings are consistent with prior interactional studies.

Este artigo examina como os participantes em sessões de aconselhamento genético gerenciam interacionalmente resultados de testes genéticos inconclusivos ou ausentes ­ testes para investigar as causas das malformações fetais identificadas. O conjunto de dados consiste em 54 interações gravadas em áudio em uma unidade de gestação de médio e alto risco de um hospital público brasileiro. A abordagem da Análise da Conversa utilizada para examinar os dados revela que os participantes desenvolvem ações interacionais que exibem uma orientação de valência altamente negativa em relação à inconclusividade diagnóstica, demonstrando que quando há motivação para um exame médico, ou seja, usando o resultado do teste diagnóstico como base para tomada de decisão, tal como acontece com futuras gestações, haja uma preferência por más notícias diagnósticas em detrimento de notícias diagnósticas ausentes ou inconclusivas. Tais resultados são consistentes com estudos interacionais anteriores.

Este artículo examina cómo los participantes en las sesiones de asesoramiento genético gestionan de forma interactiva los resultados de pruebas genéticas no concluyentes o faltantes, pruebas para investigar las causas de las malformaciones fetales identificadas. El conjunto de datos consta de 54 interacciones grabadas en audio en una unidad de embarazo de riesgo medio y alto de un hospital público brasileño. El enfoque de Análisis de Conversación utilizado para examinar los datos revela que los participantes desarrollan acciones interaccionales que exhiben una orientación de valencia altamente negativa hacia la falta de conclusión del diagnóstico, lo que demuestra que cuando hay motivación para un examen médico, es decir, utilizar el diagnóstico del resultado de la prueba como base para la toma de decisiones, como ocurre con futuros embarazos, se prefieran las malas noticias diagnósticas a las noticias diagnósticas ausentes o no concluyentes. Estos resultados son consistentes con estudios interaccionales previos.

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Resumen: Introducción: El componente genético se ha establecido como un factor de riesgo considerable para la ruptura del ligamento cruzado anterior (RLCA). La investigación actual se ha centrado en conocer los genes candidatos que pueden influir y predisponer a un sujeto a padecer esta lesión. Objetivo: Se llevó a cabo un análisis bibliométrico para rastrear los resultados de la indagación e identificar las tendencias globales, así como las brechas en el conocimiento sobre la relación entre el componente genético y la RLCA. Metodología: Los datos fueron extraídos de las bases Pubmed y Scopus, igual que analizados en el paquete Bibliometrix del software R. Se identificó un total de 63 estudios publicados a partir del 2007. Resultados: La mayoría de las publicaciones identificadas fueron artículos de investigación (85.71 %). Los autores con mayor número de aquellas se encuentran en Polonia y Sudáfrica. El análisis a través del mapa de coocurrencias reveló que hay una línea principal de investigación basada en el estudio de polimorfismos genéticos, especialmente en los genes de las familias del colágeno (COL1A1, COL5A1, COL12A1, en mayor frecuencia). Un total de 54 genes candidatos fueron identificados en los estudios. Conclusión: Esperamos que este estudio pueda contribuir a encontrar puntos claves y vacíos de investigación, al proporcionar análisis integrales e información estructurada sobre este tema.

Abstract: Introduction: Genetic component has been established as a significant risk factor for anterior cruciate ligament rupture (ACLR). Current research has focused on knowing the candidate genes that can influence and predispose a subject to this injury. Objective: A bibliometric analysis was carried out to trace the results of the research and identify global trends and gaps in knowledge about the relationship between the genetic component and ACLR. Methodology: Data were extracted from the Pubmed and Scopus databases and analyzed in the Bibliometrix package of the R software. A total of 63 studies published since 2007 were identified. Results: Most of the publications recovered were research articles (85.71%). The authors with the highest number of those are in Poland and South Africa. The analysis through the co-occurrence map reveals that there is a mainline of research based on the study of genetic polymorphisms, especially in the genes of the collagen families (COL1A1, COL5A1, COL12A1, in greater frequency). A total of 54 candidate genes were identified within the studies. Conclusion: We hope that this study can help to find key points and research gaps by providing a comprehensive analysis and structured information on this topic.

Resumo: Introdução: O componente genético foi estabelecido como um fator de risco significativo para a ruptura do ligamento cruzado anterior (RLCA). As pesquisas atuais têm se concentrado em identificar os genes candidatos que podem influenciar e predispor um indivíduo a essa lesão. Objetivo: Foi realizada uma análise bibliométrica para rastrear os resultados das pesquisas e identificar tendências globais e lacunas no conhecimento sobre a relação entre o componente genético e a RLCA. Metodologia: Os dados foram extraídos das bases de dados Pubmed e Scopus e analisados no pacote Bibliometrix do software R. Um total de 63 estudos publicados desde 2007 foram identificados. Resultados: A maioria das publicações recuperadas foram artigos de pesquisa (85,71%). Os autores com o maior número dessas publicações estão na Polônia e na África do Sul. A análise por meio do mapa de coocorrência revela que há uma linha principal de pesquisa baseada no estudo de polimorfismos genéticos, especialmente nos genes das famílias de colágeno (COL1A1, COL5A1, COL12A1, com maior frequência). Um total de 54 genes candidatos foram identificados nos estudos. Conclusão: Esperamos que este estudo possa ajudar a encontrar pontos-chave e lacunas de pesquisa, fornecendo uma análise abrangente e informações estruturadas sobre este tema.

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Resumo Fundamento A regurgitação valvar pulmonar é uma importante complicação de longo prazo em pacientes com tetralogia de Fallot (TF). Objetivo O presente estudo tem como objetivo investigar os efeitos do implante valvar pulmonar (IVP) na anatomia e função do ventrículo direito (VD) e na evolução em longo prazo da prótese implantada em posição pulmonar. Métodos Uma análise de coorte retrospectiva e unicêntrica foi realizada em 56 pacientes consecutivos com TF submetidos a IVP. O estudo incluiu pacientes de ambos os gêneros, com idade ≥ 12 anos e compreendeu avaliação de dados clínicos e cirúrgicos, ressonância magnética cardiovascular pré e pós-operatória e dados ecocardiográficos obtidos mais de 1 ano após IVP. Resultados Após o IVP, houve uma diminuição significativa do volume sistólico final do VD indexado pela área de superfície corpórea (ASC), de 89 mL/ASC para 69 mL/ASC (p < 0,001) e do volume diastólico final indexado do VD, de 157 mL/ASC para 116 mL/ASC (p < 0,001). Além disso, houve aumento da fração de ejeção corrigida do VD [ FEVDc = fluxo pulmonar ajustado (fluxo pulmonar anterógrado − fluxo regurgitante) / volume diastólico final do VD ] de 23% para 35% (p < 0,001) e da fração de ejeção do ventrículo esquerdo de 58% para 60% (p = 0,008). No entanto, foi observado um aumento progressivo no gradiente de pico da válvula pulmonar ao longo do tempo, com 25% dos pacientes apresentando um gradiente superior a 60 mmHg. Próteses menores (tamanhos 19 a 23) foram associadas a um risco 4,3 vezes maior de gradiente > 60 mmHg em comparação com próteses maiores (tamanhos 25 a 27; p = 0,029; intervalo de confiança: 1,18 a 17,8). Conclusão Conforme esperado, o IVP demonstrou melhorias nos volumes e na função do VD. O acompanhamento e a vigilância a longo prazo são cruciais para avaliar a durabilidade da prótese e detectar potenciais complicações. O dimensionamento adequado das próteses é essencial para melhorar a longevidade da prótese.

Abstract Background Pulmonary valve regurgitation is a significant long-term complication in patients with tetralogy of Fallot (TOF). Objective This study aims to investigate the effects of pulmonary valve implantation (PVI) on the anatomy and function of the right ventricle (RV) and the long-term evolution of the implanted prosthesis in the pulmonary position. Methods A single-center retrospective cohort analysis was performed in 56 consecutive patients with TOF who underwent PVI. The study included patients of both sexes, aged ≥ 12 years, and involved assessing clinical and surgical data, pre- and post-operative cardiovascular magnetic resonance imaging, and echocardiogram data more than 1 year after PVI. Results After PVI, there was a significant decrease in RV end-systolic volume indexed by body surface area (BSA), from 89 mL/BSA to 69 mL/BSA (p < 0.001) and indexed RV end-diastolic volume, from 157 mL/BSA to 116 mL/BSA (p < 0.001). Moreover, there was an increase in corrected RV ejection fraction [ RVEFC = net pulmonary flow (pulmonary forward flow − regurgitant flow) / R V end-diastolic volume] from 23% to 35% (p < 0.001) and left ventricular ejection fraction from 58% to 60% (p = 0.008). However, a progressive increase in the peak pulmonary valve gradient was observed over time, with 25% of patients experiencing a gradient exceeding 60 mmHg. Smaller prostheses (sizes 19 to 23) were associated with a 4.3-fold higher risk of a gradient > 60 mmHg compared to larger prostheses (sizes 25 to 27; p = 0.029; confidence interval: 1.18 to 17.8). Conclusion As expected, PVI demonstrated improvements in RV volumes and function. Long-term follow-up and surveillance are crucial for assessing the durability of the prosthesis and detecting potential complications. Proper sizing of prostheses is essential for improved prosthesis longevity.

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La prueba prenatal no invasiva es un método de cribado de aneuploidías fetales y de resultar con riesgo alto debe ser confirmado a través de prueba genética diagnóstica. Es la prueba de detección más sensible y específica para las aneuploidías fetales comunes y minimiza la realización de técnicas invasivas, solo para las gestantes con riesgo elevado. Se debe realizar asesoramiento genético pre- y poscribado. Este estudio tiene como objetivo describir los fundamentos básicos de la prueba prenatal no invasiva mediante el análisis del ácido desoxirribonucleíco libre circulante en plasma materno para cribado de aneuploidías, y de los métodos primordiales y avances en biología molecular incluyendo las tecnologías de secuenciación de nueva generación, que lo han facilitado, considerando sus beneficios y limitaciones al aplicarla en la práctica clínica, en este campo que cambia con tanta rapidez(AU)

The non-invasive prenatal test is a screening method for fetal aneuploidies and if the result is at high risk, it must be confirmed through diagnostic genetic test. It is the most sensitive and specific detection test for common fetal aneuploidies and minimizes the use of invasive techniques, only for pregnant women at high risk. Genetic counseling should be performed before and after screening. This study aims to describe the basic fundamentals of non-invasive prenatal testing by analyzing free circulating deoxyribonucleic acid in maternal plasma for aneuploidy screening, and the primary methods and advances in molecular biology, including next-generation sequencing technologies, which have facilitated it, considering its benefits and limitations when applying it in clinical practice, in this rapidly changing field(AU)

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Introducción: La linfohistiocitosis hemofagocítica familiar (FHL) es una enfermedad del sistema autoinmune que se presenta con un síndrome inflamatorio excesivo causado por linfocitos T activados e histiocitosis. Cursa con herencia autosómica recesiva ligada al cromosoma X. Aproximadamente el 90% de los niños diagnosticados son menores de 2 años y la incidencia es de aproximadamente 0.12 por 100.000. Se puede dividir en cinco subtipos según la variante genética causante. Las variantes patogénicas más involucradas son en los genes de la perforina 1 (PRF1) y homólogo D de la proteína UNC-13 (UNC13D). Caso clínico: Se presenta el caso de un preadolescente de 11 años, con antecedente de infecciones recurrentes, quien cursa con síndrome convulsivo asociado a fiebre, peso y talla bajas para la edad, hepatomegalia y discapacidad cognitiva. En el abordaje inicial se descartan enfermedades infecciosas, inmunológicas, hematológicas, metabólicas y oncológicas. El exoma clínico para inmunodeficiencias primarias muestra una variante patogénica p.A91V homocigota en el gen de la PRF1 de herencia autosómica recesiva, resultado relacionado con linfohistiocitosis hemofagocítica familiar tipo 2 (FHL2). Discusión y conclusión: El cambio conformacional del PRF1 alterado reduce la actividad citotóxica de la proteína y provoca la enfermedad. Los pacientes portadores de defectos en el gen PRF1 son vulnerables a infecciones, enfermedades autoinmunes y tumores malignos. Con un diagnóstico definido y preciso es posible orientar las acciones en salud, pautas de seguimiento, evaluación de riesgo de heredabilidad a través de un caso índice para así encontrar otros posibles portadores, realizar un asesoramiento genético completo, implementar e iniciar tratamientos dirigidos que aminoren la morbilidad y mortalidad asociada a esta patología. Actualmente se cuenta con varios estudios en diferentes fases de investigación sobre moléculas que pueden intervenir en la historia natural de la enfermedad. (provisto por Infomedic International)

Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is a disease of the autoimmune system that presents with an excessive inflammatory syndrome caused by activated T lymphocytes and histiocytosis. It occurs with autosomal recessive inheritance linked to the chromosome X. Approximately 90% of diagnosed children are under 2 years of age and the incidence is approximately 0.12 per 100,000. It can be divided into five subtypes depending on the causative genetic variant. The most involved pathogenic variants are in the perforin 1 (PRF1) and UNC-13 protein homolog D (UNC13D) genes. Clinical case: The case of an 11-year-old preadolescent is presented, with a history of recurrent infections, who presents with convulsive syndrome associated with fever, low weight and height for age, hepatomegaly and cognitive disability. In the initial approach, infectious, immunological, hematological, metabolic and oncological diseases are ruled out. The clinical exome for primary immunodeficiencies shows a homozygous pathogenic variant p.A91V in the PRF1 gene of autosomal recessive inheritance, a result related to familial hemophagocytic lymphohistiocytosis type 2 (FHL2). Discussion and conclusion: The altered PRF1 conformational change reduces the cytotoxic activity of the protein and causes disease. Patients carrying defects in the PRF1 gene are vulnerable to infections, autoimmune diseases and malignant tumors. With a defined and precise diagnosis, it is possible to guide health actions, follow-up guidelines, evaluation of heritability risk through an index case in order to find other possible carriers, carry out complete genetic counseling, implement and initiate targeted treatments that reduce the morbidity and mortality associated with this pathology. Currently, there are several studies in different phases of research on molecules that may intervene in the natural history of the disease. (provided by Infomedic International)

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ABSTRACT Introduction and objective: The approach to patients with advanced or metastatic high-grade epithelial ovarian cancer (EOC) has evolved over time with the advent of new therapies and multimodal strategies. The objective of this consensus of experts is to generate national recommendations for the profiling and management of advanced or metastatic high-grade OEC, defined as stages III and IV of the "The International Federation of Gynecology and Obstetrics (FIGO) classification at the time of diagnosis to base on the literature review that included international evidence-based clinical practice guidelines (CPG). Material and methods: Eleven panelists (oncologists and gynecological oncologists) answered 8 questions about the profiling and management of advanced or metastatic ovarian epithelial carcinoma. The panelists were chosen for their academic profile and influence in national health institutions. Guidelines from the "ESMO Standardized Operating Procedures Consensus Conference" were used to develop the consensus. It was agreed that the level of agreement to accept a recommendation should be ≥ 80%. The document was peer reviewed. Results: Eight general recommendations are made, which are presented into five domains. Some of these recommendations are subdivided into specific recommendations. Initial treatment Recommendation 1.1 Complete primary cytoreduction (PCS) surgery is suggested as the initial therapy of choice for patients with high-grade or metastatic EOC, which should ideally be carried out in centers with experience, followed by adjuvant therapy. 1.2 Neoadjuvant chemotherapy followed by interval cytoreduction surgery (ICS) is suggested in those who are unlikely to achieve a complete cytoreduction in PCS either due to unresectable metastatic disease or who present unresectability criteria (imaging, laparoscopic and/or by laparotomy) and that have been defined by a gynecological oncologist and patients with poor functional status and comorbidities according to the criteria of the multidisciplinary team (clinical oncology, gynecological oncology, radiology, etc.). Recommendation 2. In patients with high-grade epithelial ovarian cancer (EOC), in stage III locally advanced or metastatic, who received neoadjuvant chemotherapy and achieved a complete or partial response (cytoreduction with tumor residue < 2.5 mm), the use of Hyperthermic IntraPeritoneal Chemotherapy (HIPEC) could be considered as an alternative to standard platinum-based adjuvant intravenous chemotherapy during interval cytoreductive surgery, after discussion in a multidisciplinary tumor board, at a center experienced in treating this type of patients. Use of genetic testing. Recommendation 3. It is suggested at the time of diagnosis to offer molecular genetic testing to all patients with high-grade advanced or metastatic EOC regardless of family history. Recommendation 4. It is suggested to offer genetic counseling, by qualified personnel, to all patients with high-grade advanced or metastatic EOC who are ordered genetic testing. Recommendation 5. It is suggested that all patients with advanced or metastatic high-grade EOC undergo a germ panel that includes the Breast Cancer Susceptibility Genes 1/2 genes (BRCA 1/2) and the other susceptibility genes according to with institutional protocols and the availability of genetic testing panels; If it is negative, then somatic testing should be performed that includes the homologous recombination deficiency (HRD) status, regardless of family history. Adjuvant Therapy Recommendation 6. 6.1. It is suggested that all patients with advanced stage III/IV EOC, with PSC of (0-2), got adjuvant intravenous chemotherapy as standard treatment within six weeks after Prc. It is suggested paclitaxel/carboplatin. Recommendation 6.2. It is suggested to use standard chemotherapy base on platinum plus Bevacizumab as adjuvant chemotherapy to patients with high-risk disease (EOC stage IV or stage III with suboptimal tumor cytoreduction), following by bevacizumab as maintenance. The use of bevacizumab as maintenance therapy is not recommended if bevacizumab was not included in the first line of treatment. We suggested the dose used in GOG-0218 and ICON7 trials. Recommendation 6.3 It is suggested combined intravenous/intraperitoneal chemotherapy only for selected patients, with optimal cytoreduction (residual lesions < 1 cm), especially those without residual disease (R0) and who are evaluated in a multidisciplinary meeting. It is not considered standard treatment. Recommendation 6.4. 6.4.1 It is suggested to use Poly ADP ribose polymerase (PARP) inhibitors such as olaparib or niraparib as maintenance after receiving first-line chemotherapy in patients with stage III/ IV BRCA1/2 positive EOC who received platinum-based chemotherapy and obtained complete response/ partial response (CR/PR), 6.4.2 It is suggested to use olaparib alone or in combination with bevacizumab or niraparib in patients with stage III/IV BRCA1/2 positive EOC who received platinum-based chemotherapy plus bevacizumab and achieved CR/PR. 6.4.3 It is suggested to use niraparibin patients with stage III/IV BRCA1/2 negative or unknown EOC who received platinum-based chemotherapy and achieved CR/PR, 6.4.4 It is suggested to use bevacizumab or olaparib plus bevacizumab in patients with EOC stage III/ IV BRCA1/2 negative or unknown (HRD positive) who received platinum-based chemotherapy plus bevacizumab and obtained CR/PR. Treatment of disease relapse Recommendation 7. Secondary cytoreductive surgery followed by chemotherapy is suggested for selected patients with high-grade advanced EOC in first relapse, platinum-sensitive (platinum-free interval ≥ 6 months), positive "Arbeitsgemeinschaft Gynäkologische Onkologie - AGO" score or "I-model" positive (< 4.7) with a potential resection to R0 in centers with access to optimal surgical and postoperative support. Note: Platinum-free interval and AGO score have only been developed as positive predictors of complete resection and not to exclude patients from surgery. Recommendation 8. 8.1 For patients with relapse advanced high-grade EOC platinum-sensitive, the following is suggested: • Platinum-based combination chemotherapy: carboplatin/liposomal doxorubicin or carboplatin/ paclitaxel or carboplatin/nab-paclitaxel or carboplatin/docetaxel or carboplatin/gemcitabine) for six cycles. If combination therapy is not tolerated, give carboplatin or cisplatin alone. • Combination chemotherapy (carboplatin/ gemcitabine or carboplatin/paclitaxel or carboplatin/doxorubicin liposomal) plus bevacizumab followed by bevacizumab as maintenance (until progression or toxicity). Recommendation 8.2 For patients with relapsed advanced high-grade EOC platinum-resistant, it is suggested: • Sequential treatment with chemotherapy, preferably with a non-platinum single agent (weekly paclitaxel or pegylated liposomal doxorubicin or docetaxel or oral etoposide or gemcitabine or trabectidine or, topotecan). Weekly paclitaxel or pegylated liposomal doxorubicin or topotecan could be administrate with or without bevacizumab. • Other agents are considered potentially active (capecitabine, cyclophosphamide, ifosfamide, irinotecan, oxaliplatin, pemetrexed, vinorelbine, cyclophosphamide) could be recommended for later lines. • Hormone receptor-positive patients who do not tolerate or have no response to cytotoxic regimens may receive hormone therapy with tamoxifen or other agents, including aromatase inhibitors (anastrozole and letrozole) or leuprolide acetate, or megestrol acetate. • Patients with a performance score ≥ 3 should be considered only for best supportive care. Recommendation 8.3 Maintenance therapy with PARP inhibitors: It is suggested in patients with relapse advanced high-grade EOC stage III/IV BRCA1/2 (positive, negative or unknown) who have received two or more lines of platinum-based chemotherapy and have achieved CR/PR, use olaparib, niraparib or rucaparib. Niraparib could be useful in BRCA ½ +/-/unknown patients, as rucaparib, however, the latter does not yet have approval from the regulatory office in Colombia. Conclusions: It is expected that the recommendations issued in this consensus will contribute to improving clinical care, oncological impact, and quality of life of these women.

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The current study aimed to investigate the relationship between polymorphisms in detoxifying (GSTM1, GSTT1, and GSTP1) genes and their association with colorectal cancer (CRC) in tobacco addicts of Pashtun ethnicity. Polymorphisms in the selected genes were genotyped in a case-control study consisting of 100 histologically confirmed male CRC patients and 100 birth-year and gender-matched healthy controls using the PCR−RFLP method. The GSTM1 null, and GSTT1 null genotypes were significantly contributed to the risk of CRC in the cases (OR= 3.131, 95% CI: 1.451−6.758, P = 0.004, and OR= 3.541, 95% CI: 1.716−7.306, P = 0.001, respectively), whereas the association observed for GSTP1 Val/Val (1.139, 95% CI: 0.356−3.644, P = 0.826) did not show statistical significance. The combined GSTM1 null and GSTT1 null showed a 41-fold increased risk (95% CI: 4.945−351.950, P = 0.001), while, the combined GSTM1 null and GSTP1 Ile/Val or Val/Val variant genotypes exhibited about 3-fold (95% CI: 1.196−7.414, P = 0.019) increased risk to CRC. Similarly, the combined GSTT1 null and GSTP1 Ile/Val or Val/Val variant genotypes showed about a 3-fold (95% CI: 1.285−8.101, P = 0.013) increased risk of CRC. In the combination of three GST genotypes, the GSTM1 null, GSTT1 null, and GSTP1 Ile/Val or Val/Val variant genotypes demonstrated a more than a 22-fold (95% CI: 2.441−212.106, P = 0.006) increased risk of CRC. Our findings suggest that GSTM1 and GSTT1 polymorphism and its combination with GSTP1 may be associated with CRC susceptibility in the Naswar addicted Pashtun population of Khyber Pakhtunkhwa, Pakistan.

O presente estudo teve como objetivo investigar a relação entre polimorfismos em genes desintoxicantes (GSTM1, GSTT1 e GSTP1) e sua associação com câncer colorretal (CCR) em tabagistas da etnia pashtun. Os polimorfismos nos genes selecionados foram genotipados em um estudo de caso-controle composto por 100 pacientes do sexo masculino com CCR, confirmados histologicamente, e 100 controles saudáveis, ​​pareados por ano de nascimento e sexo usando o método PCR-RFLP. Os genótipos GSTM1 nulo e GSTT1 nulo contribuíram significativamente para o risco de CCR nos casos (OR = 3,131, IC 95%: 1,451-6,758, P = 0,004; OR = 3,541, IC 95%: 1,716-7,306, P = 0,001, respectivamente), enquanto a associação observada para GSTP1 Val/Val (1,139, IC 95%: 0,356-3,644, P = 0,826) não apresentou significância estatística. O GSTM1 nulo e o GSTT1 nulo combinados mostraram um risco 41 vezes maior (IC 95%: 4,945-351,950, P = 0,001) para CCR, enquanto os genótipos GSTM1 nulo e GSTP1 Ile/Val ou Val/Val combinados apresentaram risco cerca de 3 vezes maior (IC 95%: 1,196-7,414, P = 0,019) para CCR. Da mesma forma, os genótipos combinados GSTT1 nulo e GSTP1 Ile/Val ou Val/Val tiveram um risco para CRC cerca de 3 vezes maior (95% CI: 1,285-8,101, P = 0,013). Na combinação de três genótipos GST, os genótipos GSTM1 nulo, GSTT1 nulo e GSTP1 Ile/Val ou Val/Val apresentaram um risco 22 vezes maior (IC 95%: 2,441-212,106, P = 0,006) para CRC. Nossos achados sugerem que o polimorfismo GSTM1 e GSTT1 e sua combinação com GSTP1 podem estar associados à suscetibilidade ao CRC da população pashtun de Khyber Pakhtunkhwa, Paquistão, viciada em Naswar.

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Abstract In soybean breeding program, continuous selection pressure on traits response to yield created a genetic bottleneck for improvements of soybean through hybridization breeding technique. Therefore an initiative was taken to developed high yielding soybean variety applying mutation breeding techniques at Plant Breeding Division, Bangladesh Institute of Nuclear Agriculture (BINA), Bangladesh. Locally available popular cultivar BARI Soybean-5 was used as a parent material and subjected to five different doses of Gamma ray using Co60. In respect to seed yield and yield attributing characters, twelve true breed mutants were selected from M4 generation. High values of heritability and genetic advance with high genotypic coefficient of variance (GCV) for plant height, branch number and pod number were considered as favorable attributes for soybean improvement that ensure expected yield. The mutant SBM-18 obtained from 250Gy provided stable yield performance at diversified environments. It provided maximum seed yield of 3056 kg ha-1 with highest number of pods plant-1 (56). The National Seed Board of Bangladesh (NSB) eventually approved SBM-18 and registered it as a new soybean variety named 'Binasoybean-5' for large-scale planting because of its superior stability in various agro-ecological zones and consistent yield performance.

Resumo No programa de melhoramento da soja, a pressão pela seleção contínua para a resposta das características de rendimento criou um gargalo genético para melhorias da soja por meio da técnica de melhoramento por hibridação. Portanto, foi desenvolvida uma variedade de soja de alto rendimento, aplicando técnicas de reprodução por mutação, na Divisão de Melhoramento de Plantas, no Instituto de Agricultura Nuclear de Bangladesh (BINA), em Bangladesh. A cultivar popular BARI Soybean-5, disponível localmente, foi usada como material original e submetida a cinco doses diferentes de raios gama usando Co60. Em relação ao rendimento de sementes e às características de atribuição de rendimento, 12 mutantes genuínos foram selecionados a partir da geração M4. Altos valores de herdabilidade e avanço genético com alto coeficiente de variância genotípico (GCV) para altura da planta, número de ramos e número de vagens foram considerados atributos favoráveis ​​ao melhoramento da soja, garantindo, assim, a produtividade esperada. O mutante SBM-18, obtido a partir de 250Gy, proporcionou desempenho de rendimento estável em ambientes diversificados e produtividade máxima de sementes de 3.056 kg ha-1 com o maior número de vagens planta-1 (56). O Conselho Nacional de Sementes de Bangladesh (NSB) finalmente aprovou o SBM-18 e o registrou como uma nova variedade de soja, chamada 'Binasoybean-5', para plantio em larga escala por causa de sua estabilidade superior em várias zonas agroecológicas e desempenho de rendimento consistente.

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Abstract In soybean breeding program, continuous selection pressure on traits response to yield created a genetic bottleneck for improvements of soybean through hybridization breeding technique. Therefore an initiative was taken to developed high yielding soybean variety applying mutation breeding techniques at Plant Breeding Division, Bangladesh Institute of Nuclear Agriculture (BINA), Bangladesh. Locally available popular cultivar BARI Soybean-5 was used as a parent material and subjected to five different doses of Gamma ray using Co60. In respect to seed yield and yield attributing characters, twelve true breed mutants were selected from M4 generation. High values of heritability and genetic advance with high genotypic coefficient of variance (GCV) for plant height, branch number and pod number were considered as favorable attributes for soybean improvement that ensure expected yield. The mutant SBM-18 obtained from 250Gy provided stable yield performance at diversified environments. It provided maximum seed yield of 3056 kg ha-1 with highest number of pods plant-1 (56). The National Seed Board of Bangladesh (NSB) eventually approved SBM-18 and registered it as a new soybean variety named Binasoybean-5 for large-scale planting because of its superior stability in various agro-ecological zones and consistent yield performance.

Resumo No programa de melhoramento da soja, a pressão pela seleção contínua para a resposta das características de rendimento criou um gargalo genético para melhorias da soja por meio da técnica de melhoramento por hibridação. Portanto, foi desenvolvida uma variedade de soja de alto rendimento, aplicando técnicas de reprodução por mutação, na Divisão de Melhoramento de Plantas, no Instituto de Agricultura Nuclear de Bangladesh (BINA), em Bangladesh. A cultivar popular BARI Soybean-5, disponível localmente, foi usada como material original e submetida a cinco doses diferentes de raios gama usando Co60. Em relação ao rendimento de sementes e às características de atribuição de rendimento, 12 mutantes genuínos foram selecionados a partir da geração M4. Altos valores de herdabilidade e avanço genético com alto coeficiente de variância genotípico (GCV) para altura da planta, número de ramos e número de vagens foram considerados atributos favoráveis ao melhoramento da soja, garantindo, assim, a produtividade esperada. O mutante SBM-18, obtido a partir de 250Gy, proporcionou desempenho de rendimento estável em ambientes diversificados e produtividade máxima de sementes de 3.056 kg ha-1 com o maior número de vagens planta-1 (56). O Conselho Nacional de Sementes de Bangladesh (NSB) finalmente aprovou o SBM-18 e o registrou como uma nova variedade de soja, chamada Binasoybean-5, para plantio em larga escala por causa de sua estabilidade superior em várias zonas agroecológicas e desempenho de rendimento consistente.

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ABSTRACT Background: Lactose tolerant test (LTT) is the most broadly used diagnostic test for lactose intolerance in Brazil, is an indirect, minimally invasive and a low-cost test that is widely available in primary care and useful in clinical practice. The C/T-13910 polymorphism in lactase persistence has been well characterized in Caucasian populations, but there are no studies evaluating the concordance between C/T-13910 polymorphism genotyping results and LTT results in Brazil, where the population is highly mixed. Objective: We aimed to evaluate agreement between presence of C/T-13910 polymorphism genotyping and malabsorption in LTT results. Methods: This is a retrospective analysis of a Brazilian population whose data were collected from a single laboratory database present in several Brazilian states. Results of individuals who underwent both genetic testing for lactose intolerance (C/T-13910 polymorphism genotyping) and an LTT from April 2016 until February 2019 were analysed to evaluate agreement between tests. Groups were classified according to age (<10-year-old (yo), 10-17 yo, ≥18 yo groups) and state of residence (São Paulo or Rio Grande do Sul). Results: Among the 404 patients evaluated, there was agreement between the genotyping and LTT results in 325 (80.4%) patients and discordance in 79 (19.6%) patients (k=0.42 -moderate agreement). Regarding the genotype, 47 patients with genotype C/C (lactase nonpersistence) had normal LTT results, and 32 with genotype C/T or T/T (indicating lactase persistence) had abnormal LTT results. Neither age nor state of residence (Rio Grande do Sul or São Paulo) affected the agreement between test results. Conclusion: Considering the moderate agreement between C/T-13910 polymorphism genotyping and LTT results (κ=0.42) in the Brazilian population, we hypothesize that an analysis of other polymorphisms could be a strategy to improve the agreement between genotyping and established tests and suggest that additional studies should focus on exploring this approach.

RESUMO Contexto: O teste de tolerancia à lactose (TTL) é ampliamente utilizado por ser minimamente invasivo e de baixo custo, disponível na atenção primária e muito útil na prática clínica. Está bem estabelecido o polimorfismo C/T-13910 na persistência da lactase em populações caucasianas, mas não há estudos avaliando a concordância entre os resultados da genotipagem do polimorfismo C/T-13910 e do TTL no Brasil, onde a população é altamente miscigenada. Objetivo: Avaliar a concordância entre a presença do polimorfismo C/T-13910 e a má absorção nos resultados do TTL. Métodos: Análise retrospectiva de dados coletados de um laboratorio presente em vários estados brasileiros. Os resultados dos pacientes que realizaram um teste genético para intolerância à lactose (genotipagem do polimorfismo C/T-13910) e um TTL de abril de 2016 a fevereiro de 2019 foram analisados para avaliar a concordância entre os testes. Os grupos foram classificados de acordo com a idade (<10 anos; 10-17 anos, ≥18 anos) e estado de residência (São Paulo ou Rio Grande do Sul). Resultados: Entre os 404 pacientes avaliados, houve concordância entre os resultados de genotipagem e TTL em 325 (80,4%) pacientes e discordância em 79 (19,6%) pacientes (K=0,42 - concordância moderada). Em relação ao genótipo, 47 pacientes com genótipo C/C (não persistência de lactase) apresentaram TTL normal e 32 com genótipo C/T ou T/T (indicando persistência da lactase) apresentaram TTL anormal. A idade e o estado de residência (Rio Grande do Sul ou São Paulo) não afetaram a concordância entre os resultados dos exames. Conclusão: Considerando a concordância moderada entre a genotipagem do polimorfismo C/T-13910 e os resultados de TTL (κ=0,42) na população brasileira, sugerimos que a análise de outros polimorfismos poderia ser uma estratégia para melhorar a concordância entre os testes.

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Introducción: En Cuba se le concede gran importancia a la atención de la madre y el niño, por lo cual se desarrollan programas de prevención de enfermedades como la anemia falciforme, condición hereditaria frecuente en el mundo. El asesoramiento genético de esta enfermedad pone de manifiesto rasgos de masculinidad hegemónica heredados de una cultura patriarcal, que conspiran contra el diagnóstico prenatal de la enfermedad. Objetivo: Describir los patrones de masculinidad hegemónica que inciden negativamente en la prevención de anemia falciforme en la provincia de Matanzas. Métodos: Se realizó una investigación descriptiva retrospectiva, a través de la revisión de las historias clínicas de anemia falciforme del Departamento de Genética Médica, de Matanzas, de 1981 a 2021. Se informatizó este registro genético en Excel y se procedió a examinar la información. Se analizó el número de esposos de gestantes portadoras negados a electroforesis de hemoglobina, así como el número de parejas negadas al diagnóstico prenatal y las causas en ambos casos. Se hizo un análisis porcentual presentado en tablas. Resultados: Fueron objeto de estudio 7140 esposos de gestantes portadoras de anemia falciforme; los negados a electroforesis de hemoglobina constituyeron 1088, por no aceptación de la paternidad ni de la morbimortalidad por esta enfermedad. De 428 parejas de riesgo, 252 se hicieron diagnóstico prenatal; 78,9 % de las 176 no estudiadas correspondió a negación masculina, donde imperaron: temor al aborto, inconformidad con la morbimortalidad, y rasgos de paternidad irresponsable. Conclusiones: Los patrones de masculinidad hegemónica se manifiestan de forma negativa en el asesoramiento genético de la anemia falciforme. Desmontarlos progresivamente ayuda a mejorar la prevención de esta enfermedad a través del diagnóstico prenatal.

Introduction: In Cuba, great importance is given to the care of mother and child, which is why programs are develop to prevent diseases such as sickle cell anemia, hereditary condition very frequent in the world. Genetic counseling of this disease reveals hegemonic masculinity traits inherited from a patriarchal culture, which conspire against prenatal diagnosis of the disease. Objective: To describe the patterns of hegemonic masculinity which negatively affect the prevention of sickle cell anemia in the province of Matanzas. Methods: A retrospective descriptive research was carried out, through the review of sickle cell anemia clinical records of the Medical Genetics Department of Matanzas, from 1981 to 2021.This genetic record was computerized in Excel and the information was examined. The number of husbands of carrying pregnant women who refused hemoglobin electrophoresis was analyzed, as well as the number of couples denied to prenatal diagnosis and the causes in both cases. A percentaje analysis was performed, presented in tables. Results: 7140 husbands of pregnant women carrying sickle cell anemia were studied; those who refused hemoglobin electrophoresis constituted 1088 due to non-acceptance of paternity and morbimortality for this disease. Of 428 risk couples, 252 were prenatally diagnosed; 78.9% of those 176 not studied corresponded to male denial, where fear of abortion, dissatisfaction with morbimortality, and irresponsible paternity traits prevailed. Conclusions: Patterns of hegemonic masculinity are negatively manifested in genetic counseling for sickle cell disease. Dismantling them progressively helps to improve the prevention of this disease through prenatal diagnosis.

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Abstract In recent decades, there have been significant advances in the diagnosis of diffuse gliomas, driven by the integration of novel technologies. These advancements have deepened our understanding of tumor oncogenesis, enabling a more refined stratification of the biological behavior of these neoplasms. This progress culminated in the fifth edition of the WHO classification of central nervous system (CNS) tumors in 2021. This comprehensive review article aims to elucidate these advances within a multidisciplinary framework, contextualized within the backdrop of the new classification. This article will explore morphologic pathology and molecular/genetics techniques (immunohistochemistry, genetic sequencing, and methylation profiling), which are pivotal in diagnosis, besides the correlation of structural neuroimaging radiophenotypes to pathology and genetics. It briefly reviews the usefulness of tractography and functional neuroimaging in surgical planning. Additionally, the article addresses the value of other functional imaging techniques such as perfusion MRI, spectroscopy, and nuclear medicine in distinguishing tumor progression from treatment-related changes. Furthermore, it discusses the advantages of evolving diagnostic techniques in classifying these tumors, as well as their limitations in terms of availability and utilization. Moreover, the expanding domains of data processing, artificial intelligence, radiomics, and radiogenomics hold great promise and may soon exert a substantial influence on glioma diagnosis. These innovative technologies have the potential to revolutionize our approach to these tumors. Ultimately, this review underscores the fundamental importance of multidisciplinary collaboration in employing recent diagnostic advancements, thereby hoping to translate them into improved quality of life and extended survival for glioma patients.

Resumo Nas últimas décadas, houve avanços significativos no diagnóstico de gliomas difusos, impulsionados pela integração de novas tecnologias. Esses avanços aprofundaram nossa compreensão da oncogênese tumoral, permitindo uma estratificação mais refinada do comportamento biológico dessas neoplasias. Esse progresso culminou na quinta edição da classificação da OMS de tumores do sistema nervoso central (SNC) em 2021. Esta revisão abrangente tem como objetivo elucidar esses avanços de forma multidisciplinar, no contexto da nova classificação. Este artigo irá explorar a patologia morfológica e as técnicas moleculares/genéticas (imuno-histoquímica, sequenciamento genético e perfil de metilação), que são fundamentais no diagnóstico, além da correlação dos radiofenótipos da neuroimagem estrutural com a patologia e a genética. Aborda sucintamente a utilidade da tractografia e da neuroimagem funcional no planejamento cirúrgico. Destacaremos o valor de outras técnicas de imagem funcional, como ressonância magnética de perfusão, espectroscopia e medicina nuclear, na distinção entre a progressão do tumor e as alterações relacionadas ao tratamento. Discutiremos as vantagens das diferentes técnicas de diagnóstico na classificação desses tumores, bem como suas limitações em termos de disponibilidade e utilização. Além disso, os crescentes avanços no processamento de dados, inteligência artificial, radiômica e radiogenômica têm grande potencial e podem em breve exercer uma influência substancial no diagnóstico de gliomas. Essas tecnologias inovadoras têm o potencial de revolucionar nossa abordagem a esses tumores. Em última análise, esta revisão destaca a importância fundamental da colaboração multidisciplinar na utilização dos recentes avanços diagnósticos, com a esperança de traduzi-los em uma melhor qualidade de vida e uma maior sobrevida.

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Objetivo: Determinar la ancestría de Helicobacter pylori aislado de pacientes provenientes de una zona de alto riesgo de cáncer gástrico del departamento de Nariño. Materiales y Métodos: Se incluyeron 16 pacientes con síntomas de dispepsia e infectados con Helicobacter pylori. Se utilizaron biopsias gástricas para el cultivo de Helicobacter pylori y subsecuente secuenciación del genoma total por Illumina MiSeq, 2x300 pb. El ensamblaje y anotación de los genomas se procedió mediante el uso de los algoritmos SPAdes y RASTtk. Las proporciones ancestrales de Helicobacter pylori se determinaron por STRUCTURE con el modelo de mezcla. Las diferencias entre estas proporciones se establecieron con las pruebas H de Kruskal Wallis y post hoc. Resultados: La estructura de la población de Helicobacter pylori deriva de cuatro poblaciones ancestrales: Ancestral Europa (AE) (61.2%), Ancestral Africa1 (AA1) (35.7%), Ancestral Este de Asia (AEA) (3%) y Ancestral Africa2 (AA2) (0.1%), siendo significativas las diferencias entre las proporciones de los ancestros de Helicobacter pylori (p<0.05). Se identificaron diferencias estadísticamente significativas entre: AA2 y AEA (p=0.022); AA2 y AA1 (p<0.05); AA2 y AE (p<0.05); AEA y AA1 (p=0.014) y AEA con AE (p<0.05), sin embargo, no se encontró diferencias significativas entre AA1 y AE (p=0.098), evaluadas por post hoc. Conclusión: Helicobacter pylori que coloniza la mucosa gástrica de una población de alto riesgo de cáncer gástrico en Nariño, deriva su acervo genético principalmente de ancestros europeos y africanos, confiriéndole a la bacteria alta capacidad competitiva asociada al desarrollo de lesiones severas en nichos gástricos amerindios.

Objective: To determine the ancestry of Helicobacter pylori isolated from patients from a high-risk area for gastric cancer in the department of Nariño. Materials and Methods: Sixteen patients with dyspepsia symptoms and infected with Helicobacter pylori were included. Gastric biopsies were used for Helicobacter pylori culture and subsequent whole genome sequencing by Illumina MiSeq, 2x300 bp. Genome assembly and annotation proceeded by using the SPAdes and RASTtk algorithms. The ancestral proportions of Helicobacter pylori were determined by STRUCTURE with the mixture model. Differences between these proportions were established with Kruskal Wallis and post hoc H-tests. Results: The population structure of Helicobacter pylori derived from four ancestral populations: Ancestral Europe (AE) (61.2%), Ancestral Africa1 (AA1) (35.7%), Ancestral East Asia (AEA) (3%) and Ancestral Africa2 (AA2) (0.1%), with differences between the proportions of Helicobacter pylori ancestors being significant (p<0.05). Statistically significant differences were identified between: AA2 and AEA (p=0.022); AA2 and AA1 (p<0.05); AA2 and AE (p<0.05); AEA and AA1 (p=0.014) and AEA with AE (p<0.05), however, no significant differences were found between AA1 and AE (p=0.098), evaluated by post hoc. Conclusion: Helicobacter pylori colonizing the gastric mucosa of a population at high risk of gastric cancer in Nariño, derives its gene pool mainly from European and African ancestors, giving the bacterium highly competitive capacity associated with the development of severe lesions in Amerindian gastric niches.

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RESUMEN El maíz se utiliza masivamente para producir alimentos para el hombre y los animales domésticos con granos de varias entidades taxonómicas o razas. Para los rumiantes domésticos también se utiliza la planta entera como forraje. En Argentina se utiliza el grano forrajero y el silaje de planta entera para el ganado vacuno de carne y leche. El objetivo de este trabajo fue desarrollar la historia y las perspectivas del maíz para grano y ensilaje, centrados en la selección y el mejoramiento genético. El maíz forrajero en sus dos variantes (grano forrajero y planta entera como silaje) tuvo distinta importancia a través del tiempo. Remarcamos la importancia del mejoramiento genético específico del maíz para silaje de planta entera para alcanzar un potencial de rendimiento y valor nutritivo superior a la de los híbridos graníferos. Se analizaron las cuatro estructuras genéticas poblacionales utilizadas en el tiempo como cultivares, que determinaron la evolución del proceso tecnológico de selección y mejoramiento genético. Con las investigaciones efectuadas, las empresas semilleras incorporaron nuestros protocolos a sus programas de desarrollo y de mejoramiento genético. La contribución de la selección y del mejoramiento genético en Argentina fue efectiva para transformar la planta de maíz en alimento para rumiantes y esto se incrementará con la obtención de híbridos específicos para silaje.

ABSTRACT Corn is used to massively produce food for humans and domestic animals with grains of various taxonomic entities or races. For domestic ruminants, the whole plant is also used as forage. In Argentina, both corn grain and whole-plant silage are used for beef and dairy cattle production. This paper aimed to develop the history and perspectives of corn grown for grain and silage, focusing on plant breeding. The importance of corn fodder in its two variants (grain and whole-plant silage) has varied over time. We emphasize herein the importance of the specific genetic breeding of corn used for whole-plant silage to achieve higher yield potential and nutritional value than grain hybrids. The four population genetic structures used over time as cultivars, which determined the evolution of the technological process of selection and breeding, were analyzed. Based on the research carried out, seed companies have incorporated our protocols into their development and breeding programs. The contribution of selection and breeding in Argentina was effective in transforming the corn plant into ruminant feed, and this will increase with the development of specific silage hybrids.

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RESUMEN La cebadilla criolla (Bromus catharticus Vahl) es la gramínea forrajera nativa anual/bianual de clima templado de mayor importancia y difusión en la Argentina. Varios autores han estudiado la variabilidad fenotípica en caracteres morfofisiológicos en cultivares y poblaciones nativas de cebadilla criolla. Las primeras variedades cultivadas comerciales de cebadilla criolla, eran poblaciones heterogéneas a las que se las consideraba de mejor adaptación a toda la región de cultivo. Con los estudios de caracterización genética, agronómica y molecular de las poblaciones base de selección y del germoplasma conservado en el banco activo de INTA Pergamino, se contribuyó a conocer y conservar la diversidad genética disponible y al mismo tiempo, disponer de variabilidad genética utilizable en programas de mejoramiento. Los cultivares públicos más representativos considerados en este trabajo fueron: Pergamino Martín Fierro MAG, Fierro Plus INTA, Bar INTA 200, Rosalía INTA e INTA Calvu, en los que se desarrollaron paquetes tecnológicos asociados a la utilización en producción animal.

ABSTRACT The prairie grass (Bromus catharticus Vahl) is the annual/biennial native forage grass of temperate climates of most importance and diffusion in Argentina. Several authors have studied the phenotypic variability in morphophysiological characters in cultivars and native populations of prairie grass. The first commercial cultivars were heterogeneous populations that were considered the best adapted in the temperate region of Argentina. Genetic, agronomic and molecular characterization of the selection base populations and of the germplasm conserved in the active bank of INTA Pergamino, contributed to knowing and conserving the available genetic diversity and, at the same time, provided usable genetic variability in breeding. The most representative cultivars considered in this work were Pergamino Martín Fierro MAG; Fierro Plus INTA, Bar INTA 200, Rosalía INTA and INTA Calvu, in which technological packages associated with the utilization in animal production were developed.

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Abstract: Sport raises the level of human physical activity within the limits of genetic traits. The results of gene therapy have attracted some to think of using its technologies to create an "indomitable athlete." World Anti-Doping Agency (WADA) applies uncertain genetic testing procedures to establish cases of this type of doping. Yet, if the results of these procedures are doubtful, then doubt must be interpreted in favor of the athlete concerned.

Resumen: El deporte eleva el nivel de actividad física humana dentro de los límites de los rasgos genéticos. Los resultados de la terapia génica han atraído a algunos a pensar en utilizar sus tecnologías para crear un 'atleta indomable'. La Agencia Mundial Antidopaje (AMA) aplica procedimientos de pruebas genéticas inciertos para establecer casos de este tipo de dopaje. Sin embargo, si los resultados de estos procedimientos son dudosos, entonces la duda debe interpretarse a favor del atleta en cuestión.

Resumo: O esporte eleva o nível da atividade física humana dentro dos limites dos traços genéticos. Os resultados da terapia genética têm atraído alguns a pensar em usar suas tecnologias para criar um "atleta indomável". A Agência Mundial Antidoping (WADA) aplica procedimentos incertos de testes genéticos para estabelecer casos deste tipo de dopagem. Entretanto, se os resultados desses procedimentos forem incertos, então a incerteza deve ser interpretada em favor do atleta em questão.

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Abstract Objective To evaluate the influence of polymorphisms on genes encoding type I collagen and the genetic susceptibility of tendinopathy. Methodology Case-control study involving 242 Brazilian athletes from different sports modalities (55 cases of tendinopathy and 187 controls). The polymorphisms COLIAI (rs1107946) and COLIA2 (rs412777, rs42524, and rs2621215) were analyzed by theTaqMansystem. Odds ratio(OR)withtheir 95% confidence intervals (CIs) were calculated using a nonconditional logistic regression model. Results The mean age was 24.0 ± 5.6 years old and 65.3% were men. Of the 55 cases of tendinopathy, 25.4% had > 1 affected tendon, the most frequent being patellar (56.3%), rotator cuff (30.9%) and elbow or hand flexors (30.9%). Age and amount of time of sports practice were associated with a higher chance of presenting tendinopathy (5 and 8 times, respectively). The frequency of variant alleles in control and case patients, respectively, was: COLIAI rs1107946 24.0 and 29.6%; COLIA2 rs412777 36.1 and 27.8%; rs42524 17.5 and 25.9%; and rs2621215 21.3 and 27.8%. After adjusting for confounding factors (age and years of sports practice), COLIA2 rs42524and rs2621215 polymorphisms were associated with increased risk of tendinopathy (OR = 5.5; 95% CI = 1.2-24.6 and OR = 3.9; IC95% = 1.1-13.5, respectively). The haplotype COLIA2 CGT was associated with low risk for disease development (OR = 0.5; 95%CI = 0.3-0.9). Conclusion Age (≥ 25 years old), time of sports practice (≥ 6years) and polymorphisms in the COLIA2 gene increased the risk of developing tendinopathy.

Resumo Objetivo Avaliar a influência de polimorfismos nos genes que codificam o colágeno tipo I e a suscetibilidade genética da tendinopatia. Metodologia Estudo caso-controle envolvendo 242 atletas brasileiros de diferentes modalidades esportivas (55 casos de tendinopatia e 187 controles). Os polimorfismos COL1A1 (rs1107946) e COL1A2 (rs412777, rs42524 e rs2621215) foram analisados pelo sistema TaqMan. As razões de chance (OR) com seus intervalos de confiança (IC) de 95% foram calculadas usando um modelo de regressão logística não-condicional. Resultados A média de idade foi de 24,0 ± 5,6 anos e 65,3% eram homens. Dos 55 casos de tendinopatia, 25,4% apresentaram mais de um tendão acometido, sendo os maisfrequentesopatelar(56,3%),omanguitorotador(30,9%)eodocotoveloou flexores das mãos (30,9%). A idade e o tempo de prática esportiva foram associados a uma maior chance de apresentar tendinopatia (5 e 8 vezes, respectivamente). A frequência dos alelos variantes nos controles e casos, respectivamente, foi: COL1A1 rs1107946 24,0 e 29,6%; COL1A2 rs412777 36,1 e 27,8%; rs42524 17,5 e 25,9%; e rs2621215 21,3 e 27,8%. Após ajuste pelos fatores de confundimento (idade e anos de práticas esportiva), os polimorfismos COL1A2 rs42524 e rs2621215 foram associados a um risco aumentado de tendinopatia (OR = 5,5; IC95% = 1,2-24,6 e OR = 3,9; IC95% = 1,1-13,5, respectivamente). O haplótipo COL1A2 CGT foi associado a um baixo risco para desenvolvimento da doença (OR = 0,5; IC95% = 0,3-0,9). Conclusão Aidade (> 25 anos), o tempo de prática esportiva (> 6 anos) e polimorfismos no gene COL1A2 aumentaram o risco de desenvolvimento da tendino-patia.

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La diabetes mellitus tipo 2 (DM2) es una de las patologías con más prevalencia a nivel mundial, se estima que alrededor de 425 millones de habitantes viven actualmente con DM2 según la OMS, la importancia de realizar pruebas moleculares que permitan realizar un diagnóstico temprano conlleva el análisis de varios grupos de genes implicados en el fenotipo diabético con una marcada resistencia a la insulina y en la mayoría de los casos obesidad, entre los cuales están el polimorfismo de CAG(n) en el ATXN2 gen encontrado en el cromosoma 12q24. Objetivo. Conocer el estado actual del gen ATXN2 en relación al número variable de repeticiones en tándem (VNTR) del trinucleótido CAG(n) y su posible asociación con el desarrollo de la diabetes mellitus tipo 2. Metodología. Se llevó a cabo una revisión sistemática mediante la búsqueda de información en las bases de datos de PubMed, Google Scholar y Elsevier. Para ello, se combinaron palabras clave relevantes, como "diabetes mellitus tipo 2", "polimorfismo CAG" y "ATXN2 gen", junto con "Epigenética de la DM2". Se seleccionaron artículos originales y estudios experimentales publicados en revistas de alto impacto utilizando Scimago Journal Ranks para garantizar la calidad de la literatura revisada. Conclusión. Se determinó la relación entre el ATXN2 y el VNTR CAG(n) y la actividad transcripcional del gen en la DM2 y otras patologías neurodegenerativas es evidente. Sin embargo, para profundizar en este tema, es necesario ampliar el campo de estudio en Ecuador y en otros países latinoamericanos, a fin de analizar la variabilidad genética y su posible relación con la DM2 en esta población.

Diabetes mellitus type 2 (DM2) is one of the most prevalent pathologies worldwide, it is estimated that about 425 million inhabitants currently live with DM2 according to WHO, the importance of molecular tests that allow early diagnosis involves the analysis of several groups of genes involved in the diabetic phenotype with marked insulin resistance and in most cases obesity, among which are the CAG(n) polymorphism in the ATXN2 gene found on chromosome 12q24. Objective. To know the current status of the ATXN2 gene in relation to the variable number of tandem repeats (VNTR) of the CAG(n) trinucleotide and its possible association with the development of type 2 diabetes mellitus. Methodology. A systematic review was carried out by searching for information in PubMed, Google Scholar and Elsevier databases. For this purpose, relevant keywords, such as "type 2 diabetes mellitus", "CAG polymorphism" and "ATXN2 gene" were combined with "Epigenetics of DM2". Original articles and experimental studies published in high impact journals were selected using Scimago Journal Ranks to ensure the quality of the reviewed literature. Conclusion. The relationship between ATXN2 and VNTR CAG(n) was determined and the transcriptional activity of the gene in DM2 and other neurodegenerative pathologies is evident. However, in order to go deeper into this topic, it is necessary to expand the field of study in Ecuador and in other Latin American countries, in order to analyze the genetic variability and its possible relationship with DM2 in this population.

La diabetes mellitus tipo 2 (DM2) es una de las patologías con más prevalencia a nivel mundial, se estima que alrededor de 425 millones de habitantes viven actualmente con DM2 según la OMS, la importancia de realizar pruebas moleculares que permitan realizar un diagnóstico temprano conlleva el análisis de varios grupos de genes implicados en el fenotipo diabético con una marcada resistencia a la insulina y en la mayoría de los casos obesidad, entre los cuales están el polimorfismo de CAG(n) en el ATXN2 gen encontrado en el cromosoma 12q24. Objetivo. Conocer el estado actual del gen ATXN2 en relación al número variable de repeticiones en tándem (VNTR) del trinucleótido CAG(n) y su posible asociación con el desarrollo de la diabetes mellitus tipo 2. Metodología. Se llevó a cabo una revisión sistemática mediante la búsqueda de información en las bases de datos de PubMed, Google Scholar y Elsevier. Para ello, se combinaron palabras clave relevantes, como "diabetes mellitus tipo 2", "polimorfismo CAG" y "ATXN2 gen", junto con "Epigenética de la DM2". Se seleccionaron artículos originales y estudios experimentales publicados en revistas de alto impacto utilizando Scimago Journal Ranks para garantizar la calidad de la literatura revisada. Conclusión. Se determinó la relación entre el ATXN2 y el VNTR CAG(n) y la actividad transcripcional del gen en la DM2 y otras patologías neurodegenerativas es evidente. Sin embargo, para profundizar en este tema, es necesario ampliar el campo de estudio en Ecuador y en otros países latinoamericanos, a fin de analizar la variabilidad genética y su posible relación con la DM2 en esta población.

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Abstract Objective The present study evaluated the profile of germline mutations present in patients who underwent genetic counseling for risk assessment for breast cancer (BC), ovarian cancer (OC), and endometrial cancer (EC) with a possible hereditary pattern. Methods Medical records of 382 patients who underwent genetic counseling after signing an informed consent form were analyzed. A total of 55.76% of patients (213/382) were symptomatic (personal history of cancer), and 44.24% (169/382) were asymptomatic (absence of the disease). The variables analyzed were age, sex, place of birth, personal or family history of BC, OC, EC, as well as other types of cancer associated with hereditary syndromes. The Human Genome Variation Society (HGVS) nomenclature guidelines were used to name the variants, and their biological significance was determined by comparing 11 databases. Results We identified 53 distinct mutations: 29 pathogenic variants, 13 variants of undetermined significance (VUS), and 11 benign. The most frequent mutations were BRCA1 c.470_471delCT, BRCA1 c.4675 + 1G > T, and BRCA2 c.2T> G. Furthermore, 21 variants appear to have been described for the first time in Brazil. In addition to BRCA1/2 mutations, variants in other genes related to hereditary syndromes that predispose to gynecological cancers were found. Conclusion This study allowed a deeper understanding of the main mutations identified in families in the state of Minas Gerais and demonstrates the need to assess the family history of non-gynecological cancer for risk assessment of BC, OC, and EC. Moreover, it is an effort that contributes to population studies to evaluate the cancer risk mutation profile in Brazil.

Resumo Objetivo O presente estudo avaliou o perfil de mutações germinativas presentes em pacientes submetidas a aconselhamento genético para avaliação de risco para câncer de mama (CM), câncer de ovário (OC) e câncer de endométrio (CE) com possível padrão hereditário. Métodos Foram analisados os prontuários de 382 pacientes que realizaram aconselhamento genético após consentimento informado. Um total de 55,76% dos pacientes (213/382) eram sintomáticos (história pessoal de câncer), e 44,24% (169/382) eram assintomáticos (ausência da doença). As variáveis analisadas foram idade, sexo, naturalidade, história pessoal ou familiar de CM, OC, CE bem como outros tipos de câncer associados a síndromes hereditárias. As diretrizes de nomenclatura da Human Genome Variation Society (HGVS) foram usadas para nomear as variantes e seu significado biológico foi determinado pela comparação de 11 bancos de dados. Resultados Identificamos 53 mutações distintas: 29 variantes patogênicas, 13 variantes de significado indeterminado e 11 benignas. As mutações mais frequentes foram BRCA1 c.470_471delCT, BRCA1 c.4675 + 1G > T e BRCA2 c.2T > G. Além disso, 21 variantes parecem ter sido descritas pela primeira vez no Brasil. Além das mutações BRCA1/2, foram encontradas variantes em outros genes relacionados a síndromes hereditárias que predispõem a cânceres ginecológicos. Conclusão Este estudo permitiu conhecer melhor as principais mutações identificadas nas famílias do estado de Minas Gerais e demonstra a necessidade de avaliar a história familiar de câncer não ginecológico para avaliação do risco de CM, OC e CE. Além disso, é um esforço que contribui com estudos populacionais para avaliar o perfil de mutações de risco para câncer no Brasil.

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OBJECTIVE: To evaluate the possibility of gene therapy in patients with inherited ocular conditions and established genetic diagnosis. The secondary objectives were to determine the genetic diagnostic rate and to update the list of genes for which there are ongoing clinical trials or preclinical studies that could allow for gene therapy. METHODS: Observational, retrospective, multicentric study of 177 patients with inherited ocular conditions that underwent genetic testing. RESULTS: Of 177 patients with genetic testing, 146 were enrolled for this study. Disease-causing variants were identified in 117 patients (variant detection rate of 80.1%). Pathogenic variants were found in 47 genes, with ABCA4 being the most common gene (17.9%), followed by CRB1 (11.9%). 64.1% of patients with a genetic diagnosis have a variant in genes for which gene therapy has been studied and only 40.1% have a variant in genes with studies for gene therapy in clinical phase. CONCLUSIONS: Genetic testing has opened new horizons in the management of patients with hereditary ocular diseases. About two-thirds of the patients had pathogenic variants in genes for which gene therapy has been evaluated. However, many studies are in the pre-clinical phase. The expectations of patients undergoing genetic study and their families should be managed accordingly.

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