Frequência e distribuição do gene da α-actinina-3 e sua associação em atletas brasileiras de voleibol / Frequency and distribution of the α -actinin-3 gene and its association in brazilian volleyball athletes

Introduction: The ACTN3 gene encodes the α-actinin-3 protein in the Z lines of the sarcomere, which anchors the actin protein in the contractile apparatus, present exclusively in type II muscle fibers, presenting greater glycolytic capacity, which is essential for sports with high-energy actions. intensity and short duration as is the case with Volleyball. Objective: To verify the frequency and distribution of the ACTN3 gene, RR and RX genotypes that express α-actinin-3 (EX α-actinin-3), and XX genotype that do not express α-actinin-3 (NE α-actinin-3) and its association with Brazilian volleyball athletes. Materials and Methods: Nine-seven (97) athletes from the women's volleyball super league took part in the study. Body mass, height and age were evaluated to characterize the sample. Salivary samples were analyzed using (PCR) in real time, to determine the genotypes, and, to verify the association of the genotype with the status of volleyball athlete in the three categories (National Teams, Brazilian National Team and Brazilian Olympic Team), the test was carried out Chi-square of independence (χ²). To obtain the odds ratio of the outcome, a log linear regression analysis was performed. All tests were carried out using the JAMOVI 2.4 (2023) statistical software. Results: Among the athletes in the sample competing in the National Teams competition, 91.8% have the EX-α-actinin-3 genotype. When we consider Brazilian National Team competitions, 93.7% have the EX-α-actinin-3 genotype. Athletes who play for the Brazilian Olimpic Team, 100% of the sample have the EX-α-actinin-3 genotype. Considering that in the world population, the frequency is 80%, it is possible to verify that as you approach the athletes who participate in the women's team there is a greater participation of athletes with the EX-α-actinin-3 genotype. Furthermore, there was an association between the genotypes that EX α-actinin-3 and the National category, with the status of elite athlete, where (χ²) obtained the p value (0.023) and the rate ratio (2.71) for the outcome of the genotypes (EX α-actinin-3) being elite athletes. Conclusion: The athlete's genetic characteristics, environment, nutrition, physical, technical and tactical preparation are some of the factors that contribute to sports performance. However, the results of the present study suggest that athletes with RR and RX genotypes that express α-actinin-3, present in type II muscle fibers, seem to confer an advantage when playing high-performance volleyball.

Avaliação de sintomas climatéricos em mulheres jovens submetidas à quimioterapia / Assessment of climacteric symptoms in young women undergoing chemotherapy / Evaluación de síntomas climatéricos en mujeres jóvenes sometidas a quimioterapia

RESUMO Objetivo: Descrever a prevalência de sintomas climatéricos em mulheres submetidas a tratamento oncológico e analisar sua relação com a quantidade de ciclos quimioterápicos. Métodos: Estudo transversal com 47 mulheres submetidas à quimioterapia em dois hospitais de referência oncológica de São Luís, Maranhão, Brasil, entre março de 2019 e julho de 2020. Utilizou-se questionário estruturado contendo variáveis sociodemográficas e informações sobre função menstrual e sintomas. Foram realizadas análise bivariada e regressão logística binária para avaliar a relação entre as variáveis previsoras e quantidade de ciclos quimioterápicos. Resultados: Média de idade de 31,71 anos, amenorreia e fogacho, foram os sintomas mais frequentes, porém, sem relação com o número de ciclos quimioterápicos. Não houve associação entre a presença de efeitos climatéricos com o tipo de quimioterapia (p=0,15). Conclusão: Reafirma-se que quimioterápicos podem causar sintomas climatéricos enfatizando a necessidade de medidas para amenizar os sintomas nas pacientes que enfrentam essa problemática.

ABSTRACT Objective: To describe the prevalence of climacteric symptoms in women undergoing cancer treatment and to analyze its relationship with the number of chemotherapy cycles. Methods: Cross-sectional study with 47 women undergoing chemotherapy in two cancer reference hospitals in São Luís, Maranhão, Brazil, between March 2019 and July 2020. A structured questionnaire was used containing sociodemographic variables and information on menstrual function and symptoms. Bivariate analysis and binary logistic regression were performed to assess the relationship between predictor variables and number of chemotherapy cycles. Results: Mean age was 31.71 years, and amenorrhea and hot flushes were the most frequent symptoms, however, unrelated to the number of chemotherapy cycles. There was no association between the presence of climacteric effects and the type of chemotherapy (p=0.15). Conclusion: The results reaffirmed that chemotherapy can cause climacteric symptoms, thus emphasizing the need for measures to alleviate symptoms in patients facing this problem.

RESUMEN Objetivo: Describir la prevalencia de síntomas climatéricos en mujeres sometidas a tratamiento oncológico y analizar su relación con la cantidad de ciclos quimioterápicos. Métodos: Estudio transversal con 47 mujeres sometidas a quimioterapia en dos hospitales oncológicos de referencia de São Luis, Maranhão, entre marzo de 2019 y julio de 2020. Se utilizó cuestionario estructurado incluyendo variables sociodemográficas e información sobre función menstrual y síntomas. Fueron practicados análisis bivariado y regresión logística binaria para evaluar la relación entre las variables de previsión y la cantidad de ciclos quimioterápicos. Resultados: Media etaria de 31,71 años, los síntomas más frecuentes fueron amenorrea y sofocos, aunque sin relación con la cantidad de ciclos quimioterápicos. No hubo asociación entre presencia de efectos climatéricos y tipo de quimioterapia (p=0,15). Conclusión: Se reafirma que los quimioterápicos pueden causar síntomas climatéricos, enfatizándose la necesidad de medidas para aliviar los síntomas en las pacientes que enfrentan esta problemática.

HPV 18 variants in women with cervical cancer in Northeast Brazil

Abstract Background Human Papillomavirus (HPV) is the main etiological factor for the development of cervical cancer. HPV 18 is the second most frequent type, accounting for up to 65% of all cases. HPV intratypic variation may influence the potential for progression to invasive cancer. The aim of this study was to evaluate the prevalence of human papillomavirus 18 intratypic variants in cervical cancer samples from women in the state of Maranhão, Brazil. Methods The study included 118 women over 18 years of age with a diagnosis of cervical cancer. Tumor fragments were collected and subjected to DNA extraction and Polymerase Chain Reaction (PCR) for HPV detection using the PGMY09/11 and GP+5/6 primers. Positive samples were submitted to automated sequencing for viral genotyping. To determine the HPV 18 lineages, positive samples were submitted to PCR, using specific primers to amplify the LCR and E6 regions of HPV 18 virus. Results HPV was present in 88 women (73.3%). Of those, 48 (54%) were HPV 16, the most prevalent, followed by 12 (13.6%) HPV 18. Histologically, squamous cell carcinoma was predominant (79.1%). Among the HPV 18 variants identified, 10 (80%) belonged to lineage A, and sublineages A1, A2, A3, and A4. Two (29%) HPV 18 B variant was also detected, with the sublineages B1 and B2. In this study, the C variant was not found. There was no statistically significant association between the HPV 18 lineages found and sociodemographic and lifestyle variables (p > 0.05). Conclusions A higher frequency of HPV 16 and 18 were found in women with cervical cancer in the state of Maranhão, Brazil, with a high prevalence of the lineage A among women with HPV 18.

Prevalence of human papillomavirus infection in squamous cell carcinoma of the anal canal in a Northeast City in Brazil: viral genotyping and clinical aspects

Background: Anal cancer malignancies comprise about 1.5 to 3% of cancers from the gastrointestinal in which high-risk types of human papillomavirus (HR-HPV) is responsible for >80% of cases. The aim of this work was to detect and perform human papillomavirus (HPV) genotyping in squamous cell carcinoma specimens from the anal canal and to investigate the association between viral infection and histopathological and clinical aspects. Methods: The presence of genotype-specific HPV DNA in formalin-fixed paraffin embedded tissue from 27 anal SCC samples from a reference cancer hospital of São Luís, State of Maranhão, Brazil was performed by Linear Array HPV Genotyping Test and the INNO-LiPA HPV Genotyping Assay. Fisher's Exact test and Chi-square test were performed in order to evaluate the association between HPV type and clinical and morphological variables. P values less than 0.05 were considered statistically significant. Results: Average age of patients at the time of diagnosis was 54.96 years ± 15.81; 74.07% of patients were female. Vegetative ulcers represented the most common type of lesion (22.22%). The lesions ranged in size from 2.1 cm to 5.0 cm and mostly were well-differentiated (70.38%). Lymph node involvement was observed in 26% of the patients. Molecular evaluation revealed that HPV infection was detected in 81.48% of the lesions, and the most common type found was the oncogenic HPV 16. Statistical analysis indicated that the clinical and histopathological variables were not associated with HPV infection. Conclusions: Our results indicate that anal SCC rarely occurs in the absence of HPV and emphasize the predominant role of HPV16. The evaluation about genotype-specific prevalence of HPV in anal SCC is important to assess the potential benefit of HPV vaccination (AU)

Osteoporosis in primary care: an opportunity to approach risk factors / Osteoporose na atenção primária: uma oportunidade para abordar os fatores de risco

ABSTRACT Introduction: Climacteric women are susceptible to a number of changes, among them osteoporosis. Osteoporosis is a disease characterized by low bone mass and susceptibility to fracture. Currently, this disease is a public health issue, being necessary to recognize its risk factors. Objectives: Identify risk factors related to osteoporosis in women attending Propis/Proex/UFMA, tracing a socio-demographic characterization and considering community lifestyles. Material and methods: This is a transversal retrospective clinical with a quantitative approach study conducted between March and June 2013 in São Luís (MA) with 107 women treated at the Programa de Práticas de Integralidade em Saúde (Propis - Integrality Health Practice Program). The study was approved by the University Hospital Ethics Committee of UFMA under opinion no. 362/07. Data were tabulated and analyzed in the epidemiological Epi-Info® software, version 3.4.1. Results: The brown color was predominant, consensual relationships proved to be a protective factor and low education was a risk factor. The average age of the group with menopause was 54.1 years and without menopause was 31.3 years (p < 0.0001). The average age of menopause was 43.7 years. The irregular menstrual cycle was a protective factor. The average number of pregnancies was 4.56 for the group with menopause and 2.45 for the group without menopause, with most births occurring normally (p < 0.0001). Smoking, physical inactivity and caffeine intake were risk factors, while the absence of alcoholism and of soda intake were protective factors for the disease. Conclusion: The patients followed the socioeconomic and demographic profile of Maranhão. Most had menarche and menopause in appropriate periods, showed no positive family history of osteoporosis, did not usually drink alcohol, were sedentary and the caffeine intake was high.

RESUMO Introdução: As mulheres no climatério estão suscetíveis a uma série de mudanças, entre elas a osteoporose. A osteoporose é uma doença caracterizada por uma baixa massa óssea e susceptibilidade à fratura. Atualmente, essa doença é um problema de saúde pública e é necessário reconhecer seus fatores de risco. Objetivos: Identificar os fatores de risco relacionados com a osteoporose em mulheres atendidas pelo Programa de Práticas de Integralidade em Saúde (Propis)/Proex/UFMA, traçar uma caracterização sociodemográfica e considerar o estilo de vida da comunidade. Material e métodos: Trata-se de um estudo transversal retrospectivo clínico com uma abordagem quantitativa, feito entre março e junho de 2013, em São Luís (MA), com 107 mulheres atendidas pelo Programa de Práticas de Integralidade em Saúde (Propis). O estudo foi aprovado pelo Comitê de Ética do Hospital Universitário da UFMA, sob parecer nº 362/07. Os dados foram tabulados e analisados com o software epidemiológico Epi-Info®, versão 3.4.1. Resultados: A etnia parda foi predominante, a união estável mostrou ser um fator protetor e a baixa escolaridade foi um fator de risco. A idade média do grupo com menopausa foi de 54,1 anos e a do sem menopausa de 31,3 anos (p < 0,0001). A idade média da menopausa foi de 43,7 anos. O ciclo menstrual irregular foi um fator protetor. O número médio de gestações foi de 4,56 para o grupo com menopausa e 2,45 para o grupo sem menopausa, com a maior parte dos partos normal (p < 0,0001). O tabagismo, a inatividade física e o consumo de cafeína foram fatores de risco, enquanto a ausência de alcoolismo e de ingestão de refrigerante foram fatores de proteção para a doença. Conclusão: Os pacientes seguiram o perfil socioeconômico e demográfico do Maranhão. A maior parte teve a menarca e a menopausa em períodos apropriados, não apresentava antecedentes familiares de osteoporose, não costumava ingerir bebida alcoólica, era sedentária e consumia uma elevada quantidade de cafeína.

Tumor filoide em adolescente: relato de caso em jovem de 13 anos / Phyllodes tumor in adolescent: a case report of a 13-year-old girl

Os tumores filoides são neoplasias fibroepiteliais raras de mama. Em sua forma menos agressiva, comportam-se semelhantemente ao fibroadenoma, diferenciando-se apenas pelo tamanho do tumor e/ou velocidade do crescimento. Relatou-se um caso de uma menor de idade, apresentando ginecomastia bilateral, submetida à mastectomia esquerda e quadrantectomia na mama direita. O diagnóstico anatomopatológico demonstrou proliferação estromal, compatível com tumor filoide, o que comprometeu toda a extensão das peças cirúrgicas, inclusive a pele da região areolar. O diagnóstico de tumor filoide é raro nas mamas de adolescentes. O caso relatado adquire grande importância em função da idade da paciente, da localização e da extensão da lesão.

Phyllodes tumors are rare fibroepithelial breast neoplasms. In a less aggressive form, they behave in a similar fashion to the fibroadenoma, and the only differences can be seen in the tumor size and/or speed of growth. We reported the case of an underage girl, with bilateral gynecomastia, who underwent left mastectomy and right breast quadrantectomy. The histopathological diagnosis showed stromal proliferation, consistent with phyllodes tumor that compromised the entire length of the surgical specimens, including the skin areolar region. Diagnosis of phyllodes tumor is rare in breasts of adolescents. The reported case is of great importance due to the patient?s age, and location and extent of the injury

Identificação molecular do HPV em infecções do colo uterino no Brasil: revisão / Molecular identification of HPV infections in cervical cancer in Brazil: review

A infecção pelo Papilomavírus humano (HPV) é o principal responsável pela ocorrência do câncer cervical, sendo que o seu estudo por meio de técnicas moleculares sofreu um aumento significativo na última década. Objetivo: Analisar as publicações sobre a identificação molecular do HPV no colo uterino no Brasil. Metodologia:Trata-se de revisão sistemática nos portais PubMed e Biblioteca Virtual em Saúde entre os anos de 2007 a 2012, utilizando os termos: “human papillomavirus”, “cervical cancer”, “polymerase chain reaction” e “Brazil”. Dos 37 artigos identificados, 16 permaneceram após leitura dos mesmos na integra, sendo excluídos: os disponíveis apenas o resumo; os estudos que focaram a população masculina; os retrospectivos; com dados dos tipos de HPV indisponíveis; estudos experimentais; comparativo de técnicas; e de variantes intratípicas. De posse desses artigos, realizou-se a distribuição entre a frequência dos tipos de HPV em relação às diferentes técnicas de genotipagem e regiões do Brasil onde ocorreram as pesquisas que originaram os artigos. Resultados: Houve um predomínio das publicações na região Sudeste (43,7%), seguido pelo Nordeste (25,0%) e Sul (18,7%). Dos 16 artigos incluídos, observou-se uma maior frequência pelo HPV tipo 16 seguido do 31. Conclusão:As técnicas de diagnóstico moleculares são importantes ferramentas para a identificação dos tipos de HPV presentes em infecções do colo uterino, observando a necessidade de identificação dos genótipos que predominam na população brasileira, com a finalidade de melhoria na elaboração de políticas públicas em saúde.

he infection by human papillomavirus (HPV) is the main responsible for the occurrence of cervical cancer, and their study using molecular techniques has increased significantly in the last decade. Objective: To analyze the publications on the molecular identification of HPV in cervical cancer in Brazil. Methodology: This is a systematic review in PubMed and Virtual Health Library postals between the years 2007 and 2012 using the terms: “humanpapillomavirus”, “cervical cancer”, “polymerasechainreaction” and “Brazil.” Out of the 37 articles identified, 16 remained after their fully reading, being excluded: available only the summary, the studies that focused on the male population; retrospective; with data of HPV types unavailable; experimental studies, comparative techniques; and intratypical variants. Based on these articles the frequency distribution of HPV types was held relative to different genotyping techniques and regions of Brazil where the articles research took place. Results: There was a predominance of publications in the Southeast (43.7%), followed by the Northeast (25.0%) and South (18.7%) out of the 16 articles included, we observed a higher frequency of HPtion of HPV types in cervical infections, observing the need for identification of genotypes that predominate in the Brazilian population, with the aim of improving the development of public health policies.

Análise crítica dos métodos moleculares para detecção do papilomavírus humano: revisão da literatura / Molecular methods for human papillomavirus detection: literature review

O papilomavírus humano (HPV) é um vírus que infecta o epitélio cutâneo e das mucosas. Células infectadas por este vírus perdem a capacidade de controlar o ciclo celular e passam a proliferar descontroladamente gerando alterações displásicas que podem progredir para lesões malignas. Existem mais de 200 tipos de HPV e entre eles aqueles que apresentam maior ou menor risco de causar câncer. Dessa forma, o HPV pode ser classificado como sendo de baixo risco ou alto risco. Os métodos mais utilizados em pesquisa para análise molecular do HPV é a hibridização in situ (ISH), reação em cadeia da polimerase (PCR) que varia desde a PCR alelo específica, passando pelo tipo Nested e a PCR multiplex, e a mais nova técnica baseada na tecnologia de microarray. A maioria destes testes é realizada apenas em centros de pesquisa, e não rotineiramente na clínica. Por outro lado, o teste de captura híbrida II para HPV, baseado na hibridização do DNA, é comercialmente disponível. As técnicas para detecção do DNA do HPV e sua genotipagem variam quanto a sua sensibilidade e especificidade. Técnicas que utilizam sondas como a hibridização in situ e o Southern blotting são as menos sensíveis para detecção da sequência do DNA, enquanto que as mais sensíveis são as técnicas que utilizam a amplificação do DNA alvo, como a PCR e a qPCR. À medida que a tecnologia avança, as técnicas moleculares vão se aprimorando para a detecção do HPV. O objetivo final é desenvolver uma metodologia de baixo custo que apresente resultados rápidos e eficientes.

The human papillomavirus (HPV) is a virus that infects the skin and mucosal epithelium. Infected cells lost the ability to control cell cycle and begin to proliferate uncontrollably causing dysplastic alterations that can progress to malignant lesions. There are over 200 types of HPV with higher or lower risk of causing cancer. Thereby, HPV can be classified as high risk or low risk. The methods used in research for molecular analysis of HPV is the in situ hybridization (ISH), polymerase chain reaction (PCR) that varies from the allele specific PCR, Nested, PCR multiplex, and the newest technique based on microarray technology. Most of these tests are performed only in research centers, and not routinely in the clinic. An exception is the Hybrid Capture II test for HPV. The detection techniques of HPV and its genotyping vary in their sensitivity and specificity. Techniques that use probes, as in situ hybridization and Southern blotting are less sensitive for detection of DNA sequence, while the most accurate are the techniques based on DNA amplification, such as PCR and qPCR. As technology advances, molecular techniques become more accurate for the detection of HPV. The ultimate goal is to develop an inexpensive method to provide rapid and efficient results.