Associations of Nativity and the Role of the Hispanic Paradox on the Cognitive Health of Older Latinos Living in the United States.

Background: US-based Latinos have lower education and income combined with higher health risks than non-Latino whites, but often 'paradoxically' evidence better health-related outcomes. Less work has investigated this paradox for cognitive-related outcomes despite nativity diversity. Objective: We evaluated cognitive aging within older Latinos of diverse nativity currently living in the US and participating in Rush Alzheimer's Disease Center studies. Methods: Participants without baseline dementia, who completed annual neuropsychological assessments (in English or Spanish) were grouped by US-born (n = 117), Mexico-born (n = 173), and born in other Latin American regions (LAr-born = 128). Separate regression models examined associations between nativity and levels of (N = 418) or change in (n = 371; maximum follow-up ∼16 years) global and domain-specific cognition. Results: Demographically-adjusted linear regression models indicated that foreign-born nativity was associated with lower levels of global cognition and select cognitive domains compared to US-born Latinos. No associations of nativity with cognitive decline emerged from demographically-adjusted mixed-effects models; however, Mexico-born nativity appeared associated with slower declines in working memory compared to other nativity groups (p-values ≥ 0.051). Mexico-born Latinos had relatively higher vascular burden and lower education levels than other nativity groups; however, this did not alter results. Conclusions: Nativity differences in baseline cognition may be due, in part, to accumulated stressors related to immigration and acculturation experienced by foreign-born Latinos which may hasten meeting criteria for dementia later in life. In contrast, Mexico-born participants' slower working memory declines, taken in the context of other participant characteristics including vascular burden, suggests the Hispanic Paradox may relate to factors with the potential to affect cognition.

Somatic Mutations in Latin American Breast Cancer Patients: A Systematic Review and Meta-Analysis.

(1) Background: Somatic mutations may be connected to the exposome, potentially playing a role in breast cancer's development and clinical outcomes. There needs to be information regarding Latin American women specifically, as they are underrepresented in clinical trials and have limited access to somatic analysis in their countries. This study aims to systematically investigate somatic mutations in breast cancer patients from Latin America to gain a better understanding of tumor biology in the region. (2) Methods: We realize a systematic review of studies on breast cancer in 21 Latin American countries using various databases such as PubMed, Google Scholar, Web of Science, RedAlyc, Dianlet, and Biblioteca Virtual en Salud. Of 392 articles that fit the criteria, 10 studies have clinical data which can be used to create a database containing clinical and genetic information. We compared mutation frequencies across different breast cancer subtypes using statistical analyses and meta-analyses of proportions. Furthermore, we identified overexpressed biological processes and canonical pathways through functional enrichment analysis. (3) Results: 342 mutations were found in six Latin American countries, with the TP53 and PIK3CA genes being the most studied mutations. The most common PIK3CA mutation was H1047R. Functional analysis provided insights into tumor biology and potential therapies. (4) Conclusion: evaluating specific somatic mutations in the Latin American population is crucial for understanding tumor biology and determining appropriate treatment options. Combining targeted therapies may improve clinical outcomes in breast cancer. Moreover, implementing healthy lifestyle strategies in Latin America could enhance therapy effectiveness and clinical outcomes.

Improved phenotypic classification of male infertility to promote discovery of genetic causes.

An increasing number of genes are being described in the context of non-syndromic male infertility. Linking the underlying genetic causes of non-syndromic male infertility with clinical data from patients is important to establish new genotype-phenotype correlations. This process can be facilitated by using universal nomenclature, but no standardized vocabulary is available in the field of non-syndromic male infertility. The International Male Infertility Genomics Consortium aimed at filling this gap, providing a standardized vocabulary containing nomenclature based on the Human Phenotype Ontology (HPO). The "HPO tree" was substantially revised compared with the previous version and is based on the clinical work-up of infertile men, including physical examination and hormonal assessment. Some causes of male infertility can already be suspected based on the patient's clinical history, whereas in other instances, a testicular biopsy is needed for diagnosis. We assembled 49 HPO terms that are linked in a logical hierarchy and showed examples of morphological features of spermatozoa and testicular histology of infertile men with identified genetic diagnoses to describe the phenotypes. This work will help to record patients' phenotypes systematically and facilitate communication between geneticists and andrologists. Collaboration across institutions will improve the identification of patients with the same phenotypes, which will promote the discovery of novel genetic causes for non-syndromic male infertility.

Desenvolvimento, Validação e Aplicação Piloto do Sistema de Observação de Feedback de Instrutores de Fitness em Aulas de Grupo (SOFIF-AGF) / Desarrollo, Validación y Aplicación Piloto del Sistema de Observación del Feedback de Instructores de Fitness en Clases Grupales (SOFIF-AGF) / Development, Validation and Pilot Application of the Observational System of Feedback Instructors’ Behavior in Group Fitness Classes (SOFIF-AGF)

O presente estudo teve como objetivo o desenvolvimento e a validação de um sistema de observação, dos comportamentos de feedback do instrutor de fitness em aulas de grupo de fitness, assim como realizar uma aplicação piloto do mesmo. Durante o processo de validação e desenvolvimento foram consideradas cinco fases sequenciais. Para testar a funcionalidade do instrumento, foi realizada uma aplicação piloto do mesmo numa amostra de 12 instrutoras de quatro atividades diferentes (step, indoor cycling, localizada e hidroginástica), tendo sido estabelecida a validade e fiabilidade de 11 dimensões e 45 categorias. Os resultados indicam que o comportamento de feedback dos instrutores, em aulas de grupo, pode ser codificado com recurso a este instrumento. Concluiu-se que o SOFIF-AGF mapeia aspetos fundamentais do comportamento de feedback de instrutores de fitness em aulas de grupo e, como tal, pode ser utilizado para estudar aspetos relevantesno âmbito do comportamento de feedback em diferentes atividades de grupo no contexto do fitness. (AU)

El presente estudio tuvo como objetivo desarrollar y validar un sistema de observación, de los comportamientos de feedback del instructor de fitness en clases colectivas de fitness, así como realizar una aplicación piloto del mismo. Durante el proceso de validación y desarrollo se consideraron cinco fases secuenciales. Para probar la funcionalidad del instrumento, se realizó una aplicación piloto del instrumento en una muestra de 12 instructores de quatro actividades diferentes (step, ciclismo indoor, localizada y ejercicio acuático, habiéndose establecido la validez y confiabilidad de 11 dimensiones y 45 categorías. Los resultados indican que el comportamiento de feedback de los instructores, en clases colectivas, puede codificarse utilizando este instrumento. Se concluyó que SOFIF-AGF mapea aspectos fundamentales del comportamiento de feedback de instructores de fitness en clases colectivas y, como tal, puede ser utilizado para estudiar aspectos relevantes en el contexto del comportamiento de feedback en diferentes actividades colectivas en el contexto del fitness. (AU)

The purpose of this study was the development and validation of an observational system instrument that allows the observation of the feedback instructors’ behaviors in group fitness classes, namely SOFIF-AGF. To test the instrument functionality, a pilot application of the SOFIF-AGF was made to a sample of 12 instructors of four different group fitness classes (step, indoor cycling, group resistance training, and aquafitness). It was verified that the SOFIF-AGF, composed of 11 dimensions and 45 categories, had reliability and validity. The results indicated that the feedback instructors’ behaviors, in group fitness classes, could be codified using this instrument. With SOFIF-AGF, fundamental aspects of the feedback instructors’ behaviors in group fitness classes can bemapped and can be used to study relevant features of feedback instructors’ behavior in different group fitness activities. (AU)

Feasibility of a Supervised Postpartum Exercise Program and Effects on Maternal Health and Fitness Parameters-Pilot Study.

The postpartum period is marked by profound changes in women at physical, psychological, and physiological levels. Many of these changes persist after four to six weeks postpartum, and most women do not resume their levels of physical activity, which increases the risk of remaining inactive for many years. It is crucial to implement effective programs that promote exercise during the postpartum period. The objective of this study was to test the feasibility and analyze the effects of a structured and supervised postpartum exercise program on maternal health and fitness parameters. To analyze the potential effects of the intervention, the level of physical activity, quality of life, pelvic girdle and low back pain, fatigue, depression, and the level of functional and physical fitness were assessed at baseline, after 8 weeks, and after 16 weeks of intervention. Feedback on the exercise program was collected after the final assessment. The results showed that a structured and supervised postpartum exercise program was feasible and safe and produced positive effects on selected maternal health and fitness parameters. These results will encourage a study protocol with a larger sample in order to prove its effectiveness, improve the guidelines for postpartum exercise, and incorporate this program into a routine healthcare setting.

Health and fitness trends in Southern Europe for 2023: A cross-sectional survey.

The physical activity, exercise and wellness sector is rapidly growing and seems to be an exciting field for business and professional development with great potential globally. The purpose of this observational and cross-sectional study was to determine the most popular health and fitness trends in Southern Europe for the first time, including data from Italy, Spain, Portugal, Greece and Cyprus, and to investigate any potential differences in this area compared to the Pan-European and global fitness trends for 2023. A national online survey was conducted in five Southern European countries, using the methodology of similar regional and worldwide surveys conducted by the American College of Sports Medicine since 2007. In total, a web-based questionnaire was sent to 19,887 professionals who worked in the Southern European physical activity, exercise and wellness sector. A total of 2645 responses were collected from five national surveys with an overall mean response rate of 13.3%. The ten most important fitness trends in Southern Europe for 2023 were personal training, licensure for fitness professionals, exercise is medicine, employing certified fitness professionals, functional fitness training, small group training, high-intensity interval training, fitness programs for older adults, post-rehabilitation classes and body weight training. The present findings are aligned with those reported for the European and worldwide fitness trends.

The Importance Assigned by Pregnant Women to the Quality Characteristics of Fitness Instructors. A Qualitative Study.

Introduction: The exercise professional's role is to provide proper exercise prescription and selection, regular feedback, positive reinforcement, and behavioral strategies to enhance adherence. Thus, knowing the preferences of the consumers will enhance pedagogical skills. Objective: To characterize pregnant women's preferences regarding the fitness instructor's quality characteristics in specific group exercise sessions for this population. Methods: A qualitative study was conducted in 2021. The Fitness Instructor Quality Questionnaire was applied to 29 pregnant women engaged in prenatal group fitness classes, aged between 24 and 48 years. This questionnaire includes 25 items, grouped in two dimensions, scored with a Likert scale with 7 levels of importance (1 = not at all important; 7 = extremely important). Descriptive statistics were used to characterize pregnant women's opinion (mean, standard deviation, minimum and maximum). Results: The global average of items was 6.41, showing that pregnant women give importance to the Quality of the fitness instructor. Relational Quality has the highest average (6.48), close to Pedagogical-Technical Quality dimension (6.34). The most important items for pregnant women were Ethics (6.76), Communication (6.72), and Availability, Motivation, and Punctuality (6.69). The less important items were Musical Domain (5.24), Image (5.69), and Physical Fitness (5.86). Conclusion: Pregnant women give great importance to the Quality of the fitness instructor, although they value some indicators more than others, as identified in other studies in different populations. Considering the results of this study, it can be recommended that fitness instructors delivering prenatal exercise programs should address these factors related to Quality. It can be emphasized that the fitness instructor should have an intervention that shows willingness to listen to pregnant women, allows them time to perform the exercises, encourages them to practice, without overestimating aspects related to image or fitness level.

The ubiquitin E3 ligase Parkin regulates neuronal CaV1.3 channel functional expression.

Neuronal L-type Ca2+ channels of the CaV1.3 subclass are transmembrane protein complexes that contribute to the pacemaker activity in the adult substantia nigra dopaminergic neurons. The altered function of these channels may play a role in the development and progress of neurodegenerative mechanisms implicated in Parkinson's disease (PD). Although L-type channel expression is precisely regulated, an increased functional expression has been observed in PD. Previously, we showed that Parkin, an E3 enzyme of the ubiquitin-proteasome system (UPS) interacts with neuronal CaV2.2 channels promoting their ubiquitin-mediated degradation. In addition, previous studies show an increase in CaV1.3 channel activity in dopaminergic neurons of the SNc and that Parkin expression is reduced in PD. These findings suggest that the decrease in Parkin may affect the proteasomal degradation of CaV1.3, which helps explain the increase in channel activity. Therefore, the present report aims to gain insight into the degradation mechanisms of the neuronal CaV1.3 channel by the UPS. Immunoprecipitation assays showed the interaction between Parkin and the CaV1.3 channels expressed in HEK-293 cells and neural tissues. Likewise, Parkin overexpression reduced the total and membrane channel levels and decreased the current density. Consistent with this, patch-clamp recordings in the presence of an inhibitor of the UPS, MG132, prevented the effects of Parkin, suggesting enhanced channel proteasomal degradation. In addition, the half-life of the pore-forming CaV1.3α1 protein was significantly reduced by Parkin overexpression. Finally, electrophysiological recordings using a PRKN knockout HEK-293 cell line generated by CRISPR/Cas9 showed increased current density. These results suggest that Parkin promotes the proteasomal degradation of CaV1.3, which may be a relevant aspect for the pathophysiology of PD.NEW & NOTEWORTHY The increased expression of CaV1.3 calcium channels is a crucial feature of Parkinson's disease (PD) pathophysiology. However, the mechanisms that determine this increase are not yet defined. Parkin, an enzyme of the ubiquitin-proteasome system, is known to interact with neuronal channels promoting their ubiquitin-mediated degradation. Interestingly, Parkin mutations also play a role in PD. Here, the degradation mechanisms of CaV1.3 channels and their relationship with the pathophysiology of PD are studied in detail.

Farmacogenética en el cáncer de mama: implicaciones de los genes del citocromo p450 en la supervivencia libre de la enfermedad en las mujeres jóvenes / Pharmacogenetics in breast cancer: Implications of cytochrome p450 genes in disease-free survival in young women

Las mujeres jóvenes (≤40 años) con cáncer de mama suelen tener un peor pronóstico que las mujeres posmenopáusicas, con repercusiones reproductivas y familiares importantes. El tratamiento quimioterapéutico, así como la hormonoterapia, pueden mejorar el pronóstico y la supervivencia libre de enfermedad (SLE); sin embargo, la capacidad individual de metabolizar los fármacos puede modificar la respuesta al tratamiento. Las diferencias interpersonales de esta capacidad tienen una explicación en las variaciones de los genes que codifican las enzimas que metabolizan los quimioterapéuticos y las hormonas endógenas y exógenas. Los genes del citocromo P450 (CYP450), CYP3A4, CYP2B6, CYP2D6 y CYP2C19, están involucrados en el metabolismo de los estrógenos y la ciclofosfamida, los taxanos y el tamoxifeno. La presente revisión expone la evidencia científica del efecto de los polimorfismos funcionales de estos genes sobre la SLE, y sus implicaciones, en las mujeres jóvenes con cáncer de mama. (AU)

Breast cancer prognosis tends to be worse in young women (≤40 years) than in postmenopausal women, with significant reproductive and family repercussions. Both chemotherapy and hormonal therapy can improve prognosis and disease-free survival but treatment response may be influenced by the individual's ability to metabolize drugs. Individual differences in metabolic ability can be explained by variations in the genes encoding the enzymes that metabolize chemotherapeutic agents and hormones. The cytochrome P450 genes CYP3A4, CYP2B6, CYP2D6 and CYP2C19 are involved in the metabolism of estrogen, cyclophosphamide, taxanes, and tamoxifen. This review discusses the scientific evidence of the effect of functional polymorphisms in these genes on disease-free survival and overall survival and its implications for young women with breast cancer. (AU)

The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identified a homozygous frameshift variant in FKBP6 in a man with extreme oligozoospermia. Subsequently, we screened a total of 2,699 men with SPGF and detected rare bi-allelic loss-of-function variants in FKBP6 in five additional persons. All six individuals had no or extremely few sperm in the ejaculate, which were not suitable for medically assisted reproduction. Evaluation of testicular tissue revealed an arrest at the stage of round spermatids. Lack of FKBP6 expression in the testis was confirmed by RT-qPCR and immunofluorescence staining. In mice, Fkbp6 is essential for spermatogenesis and has been described as being involved in piRNA biogenesis and formation of the synaptonemal complex (SC). We did not detect FKBP6 as part of the SC in normal human spermatocytes, but small RNA sequencing revealed that loss of FKBP6 severely impacted piRNA levels, supporting a role for FKBP6 in piRNA biogenesis in humans. In contrast to findings in piRNA-pathway mouse models, we did not detect an increase in LINE-1 expression in men with pathogenic FKBP6 variants. Based on our findings, FKBP6 reaches a "strong" level of evidence for being associated with male infertility according to the ClinGen criteria, making it directly applicable for clinical diagnostics. This will improve patient care by providing a causal diagnosis and will help to predict chances for successful surgical sperm retrieval.

Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.

De novo mutations (DNMs) play an important role in severe genetic disorders that reduce fitness. To better understand their role in disease, it is important to determine the parent-of-origin and timing of mutational events that give rise to these mutations, especially in sex-specific developmental disorders such as male infertility. However, currently available short-read sequencing approaches are not ideally suited for phasing, as this requires long continuous DNA strands that span both the DNM and one or more informative single-nucleotide polymorphisms. To overcome these challenges, we optimized and implemented a multiplexed long-read sequencing approach using Oxford Nanopore technologies MinION platform. We focused on improving target amplification, integrating long-read sequenced data with high-quality short-read sequence data, and developing an anchored phasing computational method. This approach handled the inherent phasing challenges of long-range target amplification and the normal accumulation of sequencing error associated with long-read sequencing. In total, 77 of 109 DNMs (71%) were successfully phased and parent-of-origin identified. The majority of phased DNMs were prezygotic (90%), the accuracy of which is highlighted by an average mutant allele frequency of 49.6% and standard error of 0.84%. This study demonstrates the benefits of employing an integrated short-read and long-read sequencing approach for large-scale DNM phasing.

Quality of life of fitness professionals in Portugal: Comparative and correlation study.

Fitness has been revealing a positive impact on the quality of life (QoL) of practitioners and fitness professionals (FPs) represent a role model for their customers in the fitness industry, emphasizing the need to know their QoL indices. The purpose of this study is to characterize the QoL of FPs in Portugal, compare it between groups and correlate QoL with sociodemographic and work-related variables. A total of 388 FPs answered an online survey about sociodemographic and work-related variables and the Portuguese version of the World Health Organization Bref QoL Assessment. Descriptive analysis, t-test, ANOVA, Kruskal-Wallis, Pearson and Spearman were used for statistical analysis. The results suggest that FPs in Portugal have different levels of QoL, considering the high standard deviation, with lower average indices than other countries. The lowest scores of QoL were verified in the environment domain. The results of the comparison between groups suggest that being male, married and having a master's degree or higher were the characteristics with better indices of QoL. Age, professional experience and net salary reveal a positive relation/association with QoL. Body&mind group classes (GC) per week, maximal GC per day, paid and unpaid working hours per week and annual expenses related to the profession reveal a negative relation/association. Maximal GC per day results could be an important finding to help minimize the physical problems among FPs and body&mind GC per week results could be an indicator of the FPs adaptation that allows them to remain on the profession. Unpaid working hours per week has the highest number of significant relations/associations with QoL. These findings could be important to improve the QoL of FPs. Thus, they could result in better work capacity and, therefore, fewer professionals would abandon the profession. It would also have a positive impact on the fitness industry and on the promotion of physical activity for a healthier society. More research is needed regarding the QoL of FPs.

Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.

Breast cancer (BC) is one of the most frequent cancer types in women worldwide. About 7% is diagnosed in young women (YBC) less than 40 years old. In Mexico, however, YBC reaches 15% suggesting a higher genetic susceptibility. There have been some reports of germline variants in YBC across the world. However, there is only one report from a Mexican population, which is not restricted by age and limited to a panel of 143 genes resulting in 15% of patients carrying putatively pathogenic variants. Nevertheless, expanding the analysis to whole exome involves using more complex tools to determine which genes and variants could be pathogenic. We used germline whole exome sequencing combined with the PeCanPie tool to analyze exome variants in 115 YBC patients. Our results showed that we were able to identify 49 high likely pathogenic variants involving 40 genes on 34% of patients. We noted many genes already reported in BC and YBC worldwide, such as BRCA1, BRCA2, ATM, CHEK2, PALB2, and POLQ, but also others not commonly reported in YBC in Latin America, such as CLTCL1, DDX3X, ERCC6, FANCE, and NFKBIE. We show further supporting and controversial evidence for some of these genes. We conclude that exome sequencing combined with robust annotation tools and further analysis, can identify more genes and more patients affected by germline mutations in cancer.

Energy homeostasis genes modify the association between serum concentrations of IGF-1 and IGFBP-3 and breast cancer risk.

Breast cancer is a multifactorial disease in which the interplay among multiple risk factors remains unclear. Energy homeostasis genes play an important role in carcinogenesis and their interactions with the serum concentrations of IGF-1 and IGFBP-3 on the risk of breast cancer have not yet been investigated. The aim of this study was to assess the modifying effect of the genetic variation in some energy homeostasis genes on the association of serum concentrations of IGF-1 and IGFBP-3 with breast cancer risk. We analyzed 78 SNPs from 10 energy homeostasis genes in premenopausal women from the 4-Corner's Breast Cancer Study (61 cases and 155 controls) and the Mexico Breast Cancer Study (204 cases and 282 controls). After data harmonization, 71 SNPs in HWE were included for interaction analysis. Two SNPs in two genes (MBOAT rs13272159 and NPY rs16131) showed an effect modification on the association between IGF-1 serum concentration and breast cancer risk (Pinteraction < 0.05, adjusted Pinteraction < 0.20). In addition, five SNPs in three genes (ADIPOQ rs182052, rs822391 and rs7649121, CARTPT rs3846659, and LEPR rs12059300) had an effect modification on the association between IGFBP-3 serum concentration and breast cancer risk (Pinteraction < 0.05, adjusted Pinteraction < 0.20). Our findings showed that variants of energy homeostasis genes modified the association between the IGF-1 or IGFBP-3 serum concentration and breast cancer risk in premenopausal women. These findings contribute to a better understanding of this multifactorial pathology.

Biomarkers of mammographic density in premenopausal women.

BACKGROUND: While mammographic density is one of the strongest risk factors for breast cancer, little is known about its determinants, especially in young women. We applied targeted metabolomics to identify circulating metabolites specifically associated with mammographic density in premenopausal women. Then, we aimed to identify potential correlates of these biomarkers to guide future research on potential modifiable determinants of mammographic density. METHODS: A total of 132 metabolites (acylcarnitines, amino acids, biogenic amines, glycerophospholipids, sphingolipids, hexose) were measured by tandem liquid chromatography/mass spectrometry in plasma samples from 573 premenopausal participants in the Mexican Teachers' Cohort. Associations between metabolites and percent mammographic density were assessed using linear regression models, adjusting for breast cancer risk factors and accounting for multiple tests. Mean concentrations of metabolites associated with percent mammographic density were estimated across levels of several lifestyle and metabolic factors. RESULTS: Sphingomyelin (SM) C16:1 and phosphatidylcholine (PC) ae C30:2 were inversely associated with percent mammographic density after correction for multiple tests. Linear trends with percent mammographic density were observed for SM C16:1 only in women with body mass index (BMI) below the median (27.4) and for PC ae C30:2 in women with a BMI over the median. SM C16:1 and PC ae C30:2 concentrations were positively associated with cholesterol (total and HDL) and inversely associated with number of metabolic syndrome components. CONCLUSIONS: We identified new biomarkers associated with mammographic density in young women. The association of these biomarkers with mammographic density and metabolic parameters may provide new perspectives to support future preventive actions for breast cancer.

Concordance Analysis of ALK Gene Fusion Detection Methods in Patients with Non-Small-Cell Lung Cancer from Chile, Brazil, and Peru.

About 4% to 7% of the non-small-cell lung cancer patients have anaplastic lymphoma kinase (ALK) rearrangements, and specific targeted therapies improve patients' outcomes significantly. ALK gene fusions are detected by immunohistochemistry or fluorescent in situ hybridization as gold standards in South America. Next-generation sequencing-based assays are a reliable alternative, able to perform simultaneous detection of multiple events from a single sample. We analyzed 4240 non-small-cell lung cancer samples collected in 37 hospitals from Chile, Brazil, and Peru, where ALK rearrangements were determined as part of their standard of care (SofC) using either immunohistochemistry or fluorescent in situ hybridization. A subset of 1450 samples was sequenced with the Oncomine Focus Assay (OFA), and the concordance with the SofC tests was measured. An orthogonal analysis was performed using a real-time quantitative PCR echinoderm microtubule-associated protein-like 4-ALK fusion detection kit. ALK fusion prevalence is similar for Chile (3.67%; N = 2142), Brazil (4.05%; N = 1013), and Peru (4.59%; N = 675). Although a comparison between OFA and SofC assays showed similar sensitivity, OFA had significantly higher specificity and higher positive predictive value, which opens new opportunities for a more specific determination of ALK gene rearrangements.

Tendências do Fitness emPortugal para 2021 / Tendencias de Fitness en Portugal para 2021 / Fitness Trends in Portugal for 2021

O American College of Sports Medicine(ACSM) publica anualmente um estudo com as tendências mundiais do fitness para o ano seguinte. O presente estudo reproduziu a metodologia do estudo das tendências do ACSM e caracterizou as tendências do fitness em Portugal para 2021 segundo os profissionais, os estudantes e os praticantes do setor, confrontando os resultados com os estudos a nível mundial, europeu e espanhol. Foram também comparadas as tendências entre os praticantes e os profissionais/estudantes, e nestes entre géneros, exercer ou não funções enquanto profissional e possuir o título de Técnico de Exercício Físico (TEF), Diretor Técnico (DT) ou não possuir título. Responderam a um questionário online, construído para o efeito, 165 profissionais, 135 estudantes e 85 praticantes.Como resultado, foram identificadas as principais tendências para o fitness em Portugal para 2021, nos diferentes grupos da amostra. Portugal tende a ir mais ao encontro das tendências europeias, do que das mundiais. Na comparação entre os profissionais/estudantes e os praticantes existiram diferenças em 4 das 42 tendências, entre géneros em 20, entre profissionais que exerciam ou não funções em 7, e entre títulos de TEF, DT ou sem título em 9. Em conclusão, não obstante a variabilidade de opiniões entre grupos de sujeitos, poder-se-á dizer que, consensualmente, as principais tendências do fitness em Portugal para 2021 são: licenças (títulos) para profissionais de fitness, empregar profissionais de fitness certificados, exercício para perda de peso, estilo de vida saudável e mudança comportamental, atividades outdoore treino com o peso corporal. (AU)

The American College of Sports Medicine (ACSM) publishes an annual study of world fitness trends for the following year. The present study reproduced the methodology of ACSM trends study and characterized the fitness trends in Portugal for 2021 according to professionals, students and clients in the sector, confronting the results with studies at a worldwide, European and Spanish level. The trends between clients and professionals/students were also compared, and in these, between genders, whether or not toperform functions as a professional and to have the title of Physical Exercise Technician (TEF), Technical Director (DT) or not to have a title. 165 professionals, 135 students and 85 clients answered to an online questionnaire, built for this purpose.Asa result, the main trends for fitness in Portugal for 2021 were identified, in the different sample groups. Portugal tends to be more in line with European trends than worldwide ones. In the comparison between professionals/students and clients, there were differences in 4 out of 42 trends, between genders in 20, between professionals who performed functions with those who did not in 7, and between titles of TEF, DT or untitled in 9. In conclusion, despite the variability of opinions between groups of subjects, it can be said that, by consensus, the main fitness trends in Portugal for 2021 are: licenses (titles) for fitness professionals, employing certified fitness professionals, exercise for weight loss, healthy lifestyle and behavioral change, outdoor activities and bodyweight training.

El Colegio Americano de Medicina Deportiva (ACSM) publica anualmente un estudio que identifica las tendencias mundiales de fitness para el año siguiente. El estudio presente reproduce la metodología del estudio de las tendencias del ACSM y caracterizó las tendencias del fitness en Portugal para 2021 según profesionales, estudiantes y practicantes del sector, confrontando los resultados con estudios a nivel mundial, europeo y español. También se compararon las tendencias entre practicantes y profesionales/estudiantes, y en esta entre géneros, ejercer o no funciones como profesional y tener el título de Técnico en Ejercicio Físico (TEF), Director Técnico (DT) o no tener título. Respondieron a un cuestionario online, diseñado para tal fin, 165 profesionales, 135 estudiantes y 85 practicantes.Como resultado, se identificaron las principales tendencias del fitness en Portugal para 2021, en los diferentes grupos de la muestra. Portugal tiende a estar más en línea con las tendencias europeas que con las mundiales. En la comparación entre profesionales/estudiantes y practicantes, hubo diferencias en 4 de 42 tendencias, entre géneros en 20, entre profesionales que ejercían funciones o noen 7, y entre títulos de TEF, DT o sin título en 9. En conclusión, a pesar de la variabilidad de opiniones entre grupos de sujetos, se puede decir que, por consenso, las principales tendencias del fitness en Portugal para 2021 son: licencias (títulos) para profesionales de fitness, emplear profesionales de fitness certificados, ejercicio para bajar de peso, estilo de vida saludable y cambio de comportamiento, actividades outdoory entrenamiento con el peso corporal. (AU)

Comparing the cumulative live birth rate of cleavage-stage versus blastocyst-stage embryo transfers between IVF cycles: a study protocol for a multicentre randomised controlled superiority trial (the ToF trial).

INTRODUCTION: In vitro fertilisation (IVF) has evolved as an intervention of choice to help couples with infertility to conceive. In the last decade, a strategy change in the day of embryo transfer has been developed. Many IVF centres choose nowadays to transfer at later stages of embryo development, for example, transferring embryos at blastocyst stage instead of cleavage stage. However, it still is not known which embryo transfer policy in IVF is more efficient in terms of cumulative live birth rate (cLBR), following a fresh and the subsequent frozen-thawed transfers after one oocyte retrieval. Furthermore, studies reporting on obstetric and neonatal outcomes from both transfer policies are limited. METHODS AND ANALYSIS: We have set up a multicentre randomised superiority trial in the Netherlands, named the Three or Fivetrial. We plan to include 1200 women with an indication for IVF with at least four embryos available on day 2 after the oocyte retrieval. Women are randomly allocated to either (1) control group: embryo transfer on day 3 and cryopreservation of supernumerary good-quality embryos on day 3 or 4, or (2) intervention group: embryo transfer on day 5 and cryopreservation of supernumerary good-quality embryos on day 5 or 6. The primary outcome is the cLBR per oocyte retrieval. Secondary outcomes include LBR following fresh transfer, multiple pregnancy rate and time until pregnancy leading a live birth. We will also assess the obstetric and neonatal outcomes, costs and patients' treatment burden. ETHICS AND DISSEMINATION: The study protocol has been approved by the Central Committee on Research involving Human Subjects in the Netherlands in June 2018 (CCMO NL 64060.000.18). The results of this trial will be submitted for publication in international peer-reviewed and in open access journals. TRIAL REGISTRATION NUMBER: Netherlands Trial Register (NL 6857).

Landscape of Germline Genetic Variants in AGT, MGMT, and TP53 in Mexican Adult Patients with Astrocytoma.

Astrocytoma is the most common type of primary brain tumor. The risk factors for astrocytoma are poorly understood; however, germline genetic variants account for 25% of the risk of developing gliomas. In this study, we assessed the risk of astrocytoma associated with variants in AGT, known by its role in angiogenesis, TP53, a well-known tumor suppressor and the DNA repair gene MGMT in a Mexican population. A case-control study was performed in 49 adult Mexican patients with grade II-IV astrocytoma. Sequencing of exons and untranslated regions of AGT, MGMT, and TP53 from was carried in an Ion Torrent platform. Individuals with Mexican Ancestry from the 1000 Genomes Project were used as controls. Variants found in our cohort were then assessed in a The Cancer Genome Atlas astrocytoma pan-ethnic validation cohort. Variants rs1926723 located in AGT (OR 2.74, 1.40-5.36 95% CI), rs7896488 in MGMT (OR 3.43, 1.17-10.10 95% CI), and rs4968187 in TP53 (OR 2.48, 1.26-4.88 95% CI) were significantly associated with the risk of astrocytoma after multiple-testing correction. This is the first study where the AGT rs1926723 variant, TP53 rs4968187, and MGMT rs7896488 were found to be associated with the risk of developing an astrocytoma.