Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

Background: Turner syndrome is a genetic disorder that afects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation: The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24) [5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool Conclusion: To our knowledge, this is the frst case in which a translocation (2;12) is reported in a patient with Turner syndrome and confrmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common fnding, thus emphasizing the need for familiar testing for further genetic counselling

The state of the Martian climate

60°N was +2.0°C, relative to the 1981–2010 average value (Fig. 5.1). This marks a new high for the record. The average annual surface air temperature (SAT) anomaly for 2016 for land stations north of starting in 1900, and is a significant increase over the previous highest value of +1.2°C, which was observed in 2007, 2011, and 2015. Average global annual temperatures also showed record values in 2015 and 2016. Currently, the Arctic is warming at more than twice the rate of lower latitudes

Fundamental social motives measured across forty-two cultures in two waves

How does psychology vary across human societies? The fundamental social motives framework adopts an evolutionary approach to capture the broad range of human social goals within a taxonomy of ancestrally recurring threats and opportunities. These motives—self-protection, disease avoidance, affiliation, status, mate acquisition, mate retention, and kin care—are high in fitness relevance and everyday salience, yet understudied cross-culturally. Here, we gathered data on these motives in 42 countries (N = 15,915) in two cross-sectional waves, including 19 countries (N = 10,907) for which datawere gathered in both waves. Wave 1 was collected from mid-2016 through late 2019 (32 countries, N = 8,998; 3,302 male, 5,585 female; Mage = 24.43, SD = 7.91). Wave 2 was collected from April through November 2020, during the COVID-19 pandemic (29 countries, N = 6,917; 2,249 male, 4,218 female; Mage = 28.59, SD = 11.31). These data can be used to assess differences and similarities in people’s fundamental social motives both across and within cultures, at different time points, and in relation to other commonly studied cultural indicators and outcomes

The psychological science accelerator’s COVID-19 rapid-response dataset

In response to the COVID-19 pandemic, the Psychological Science Accelerator coordinated three large-scale psychological studies to examine the effects of loss-gain framing, cognitive reappraisals, and autonomy framing manipulations on behavioral intentions and affective measures. The data collected (April to October 2020) included specific measures for each experimental study, a general questionnaire examining health prevention behaviors and COVID-19 experience, geographical and cultural context characterization, and demographic information for each participant. Each participant started the study with the same general questions and then was randomized to complete either one longer experiment or two shorter experiments. Data were provided by 73,223 participants with varying completion rates. Participants completed the survey from 111 geopolitical regions in 44 unique languages/dialects. The anonymized dataset described here is provided in both raw and processed formats to facilitate re-use and further analyses. The dataset offers secondary analytic opportunities to explore coping, framing, and self-determination across a diverse, global sample obtained at the onset of the COVID-19 pandemic, which can be merged with other time-sampled or geographic data

A global experiment on motivating social distancing during the COVID-19 pandemic

Finding communication strategies that effectively motivate social distancing continues to be a global public health priority during the COVID-19 pandemic. This cross-country, preregistered experiment (n = 25,718 from 89 countries) tested hypotheses concerning generalizable positive and negative outcomes of social distancing messages that promoted personal agency and reflective choices (i.e., an autonomy-supportive message) or were restrictive and shaming (i.e., a controlling message) compared with no message at all. Results partially supported experimental hypotheses in that the controlling message increased controlled motivation (a poorly internalized form of motivation relying on shame, guilt, and fear of social consequences) relative to no message. On the other hand, the autonomy-supportive message lowered feelings of defiance compared with the controlling message, but the controlling message did not differ from receiving no message at all. Unexpectedly, messages did not influence autonomous motivation (a highly internalized form of motivation relying on one’s core values) or behavioral intentions. Results supported hypothesized associations between people’s existing autonomous and controlled motivations and self-reported behavioral intentions to engage in social distancing. Controlled motivation was associated with more defiance and less long-term behavioral intention to engage in social distancing, whereas autonomous motivation was associated with less defiance and more short- and long-term intentions to social distance. Overall, this work highlights the potential harm of using shaming and pressuring language in public health communication, with implications for the current and future global health challenges

The Psychological Science Accelerator’s COVID-19 rapid-response dataset

In response to the COVID-19 pandemic, the Psychological Science Accelerator coordinated three large-scale psychological studies to examine the effects of loss-gain framing, cognitive reappraisals, and autonomy framing manipulations on behavioral intentions and affective measures. The data collected (April to October 2020) included specific measures for each experimental study, a general questionnaire examining health prevention behaviors and COVID-19 experience, geographical and cultural context characterization, and demographic information for each participant. Each participant started the study with the same general questions and then was randomized to complete either one longer experiment or two shorter experiments. Data were provided by 73,223 participants with varying completion rates. Participants completed the survey from 111 geopolitical regions in 44 unique languages/dialects. The anonymized dataset described here is provided in both raw and processed formats to facilitate re-use and further analyses. The dataset offers secondary analytic opportunities to explore coping, framing, and self-determination across a diverse, global sample obtained at the onset of the COVID-19 pandemic, which can be merged with other time-sampled or geographic data

Consideraciones preventivas para detectar la presencia del papilomavirus

The papillomavirus (HPV) is a common infection and most people contract at some point in their lives. The maximum incidence of HPV infectionoccurs in adolescence, shortly after the initiation of sexual activity, and most infections resolve spontaneously within two years, however, although there is no cure for This infection, warts, lesions and precancerous and cancerous changes caused by the virus can be treated. The objective of this research work, developed under a documentary methodology, is focused on making a review of the available scientific literature that mainly responds to what HPV is, what its types, how it is detected and what are the other technological alternatives for it. , what are considered the influential risk factors, what are the vaccines against HPV, how can infection be prevented and finally what with preventive considerations for detection, all with the purpose of providing updated material that defines these aspects. To this end, more than sixteen physical and digital sources were chosen, located in databases such as: Redalyc, Imbiomed, SciELO, Dialnet, Medlineplus, WHO, PAHO / PAHO, SCIelo, intramed, among others, which support the ideas presented here , and which consequently serve as a basis to conclude that it is still very important that programs provide information to the population in general about the prevention of HPV infection, other sexually transmitted infections and healthy sexual behaviors, However, both for those countries or governments that through their policies have already officially hosted some HPV test and for those who are still in that process, for these purposes, it is also advisable in terms of preventive considerations to detect the HPV. VPH, that take into consideration the clinicalvalidation of the test, operational and logistical aspects, in addition to the costs and benefits of the testing.O papilomavírus (HPV) é uma infecção comum e a maioria das pessoas se contrai em algum momento de suas vidas. A incidência máxima de infecção por HPV ocorre na adolescência, logo após o início da atividade sexual, e a maioria das infecções se resolve espontaneamente dentro de dois anos, embora não haja cura para essa infecção, verrugas, lesões e alterações pré-cancerosas e cancerígenas causadas pelo vírus. Pode ser tratado. O objetivo deste trabalho de pesquisa, desenvolvido sob uma metodologia documental, é focado em fazer uma revisão da literatura científica disponível que responda principalmente ao que é HPV, quais seus tipos, como é detectado e quais são as outras alternativas tecnológicas para o mesmo. , quais são os fatores de risco influentes, quais são as vacinas contra o HPV, como a infecção pode ser prevenida e, finalmente, quais as considerações preventivas para detecção, tudo com o objetivo de fornecer material atualizado que defina esses aspectos. Para tanto, foram escolhidas mais de dezesseis fontes físicas e digitais, localizadas em bases de dados como: Redalyc, Imbiomed, SciELO, Dialnet, Medlineplus, OMS, OPAS / OPAS, SCIelo, intramed, entre outras, que apóiam as ideias aqui apresentadas, e que, consequentemente, servem como base para concluir que ainda é muito importante que os programas forneçam informações à população em geral sobre a prevenção da infecção pelo HPV, outras infecções sexualmente transmissíveis e comportamentos sexuais saudáveis,no entanto, tanto para países como para governos que suas políticas já realizaram oficialmente alguns testes de HPV e, para aqueles que ainda estão nesse processo, para esses fins, também é aconselhável em termos de considerações preventivas para detectaro HPV. VPH, que leva em consideração a validação clínica do teste, aspectos operacionais e logísticos, além dos custos e benefícios dotesteEl papilomavirus (VPH) es una infección común y la mayoría de las personas contraen en algún momento de su vida. La incidencia máxima de la infección por el VPH se presenta en la adolescencia, poco después de la iniciación de la actividad sexual, y la mayoría de las infecciones se resuelven espontáneamente en un plazo de dos años, sin embargo, aunque no hay una cura para esta infección, las verrugas, lesiones y cambios precancerosos y cancerosos causados por el virus pueden ser tratados. El objetivo de este trabajo investigativo, desarrollado bajo un metodología documental, se centra en realizar una revisión a la literatura científica disponible que principalmente responda a qué es el VPH, cuáles con sus tipos, cómo se detecta y cuáles son las otras alternativas tecnológicas para ello, cuáles son considerados los fatores de riesgo influyentes, cales son las vacunas contra el VPH, cómo puede prevenirse la infección y finalmente cuales con las consideraciones preventivas para la detección, todo ello con la finalidad de proporcionar un material actualizado que defina dichos aspectos. Para ello se escogieron más de dieciséis fuentes físicas, y digitales, ubicadas en bases de datos tales como: Redalyc, Imbiomed, SciELO, Dialnet, Medlineplus, OMS, OPS/PAHO, SCIelo, intramed, entre otras, que fundamentan las ideas aquí planteadas, y que consecuentemente sirven de base para concluir que aún sigue siendo muy importante que mediante programas se brinde la información a la población en general sobre la prevención de la infección por el VPH, de las otras infecciones de transmisión sexual y de comportamientos sexuales sanos, sin embargo, tanto para aquellos países o gobiernos que mediante sus políticas ya han acogido oficialmente alguna prueba para la detección del VPH como para los que aún están en ese proceso, a tales fines, es igualmente recomendable en cuanto a las consideraciones preventivas para detectar el VPH, que tengan en consideración la validación clínica de la prueba, aspectos operacionales y logísticos, además de los costos y beneficios de la prueba

TCGA Pan-Cancer Genomic Analysis of Alternative Lengthening of Telomeres (ALT) Related Genes

Telomere maintenance mechanisms (TMM) are used by cancer cells to avoid apoptosis, 85–90% reactivate telomerase, while 10–15% use the alternative lengthening of telomeres (ALT). Due to anti-telomerase-based treatments, some tumors switch from a telomerase-dependent mechanism to ALT; in fact, the co-existence between both mechanisms has been observed in some cancers. Although different elements in the ALT pathway are uncovered, some molecular mechanisms are still poorly understood. Therefore, with the aim to identify potential molecular markers for the study of ALT, we combined in silico approaches in a 411 telomere maintenance gene set. As a consequence, we conducted a genomic analysis of these genes in 31 Pan-Cancer Atlas studies from The Cancer Genome Atlas and found 325,936 genomic alterations; from which, we identified 20 genes highly mutated in the cancer studies. Finally, we made a protein-protein interaction network and enrichment analysis to observe the main pathways of these genes and discuss their role in ALT-related processes, like homologous recombination and homology directed repair. Overall, due to the lack of understanding of the molecular mechanisms of ALT cancers, we proposed a group of genes, which after ex vivo validations, could represent new potential therapeutic markers in the study of ALT