Inferences on the evolution of the ascorbic acid synthesis pathway in insects using Phylogenetic Tree Collapser (PTC), a tool for the automated collapsing of phylogenetic trees using taxonomic information.

When inferring the evolution of a gene/gene family, it is advisable to use all available coding sequences (CDS) from as many species genomes as possible in order to infer and date all gene duplications and losses. Nowadays, this means using hundreds or even thousands of CDSs, which makes the inferred phylogenetic trees difficult to visualize and interpret. Therefore, it is useful to have an automated way of collapsing large phylogenetic trees according to a taxonomic term decided by the user (family, class, or order, for instance), in order to highlight the minimal set of sequences that should be used to recapitulate the full history of the gene/gene family being studied at that taxonomic level, that can be refined using additional software. Here we present the Phylogenetic Tree Collapser (PTC) program (https://github.com/pegi3s/phylogenetic-tree-collapser), a flexible tool for automated tree collapsing using taxonomic information, that can be easily used by researchers without a background in informatics, since it only requires the installation of Docker, Podman or Singularity. The utility of PTC is demonstrated by addressing the evolution of the ascorbic acid synthesis pathway in insects. A Docker image is available at Docker Hub (https://hub.docker.com/r/pegi3s/phylogenetic-tree-collapser) with PTC installed and ready-to-run.

SEDA 2024 update: enhancing the SEquence DAtaset builder for seamless integration into automated data analysis pipelines.

BACKGROUND: The initial version of SEDA assists life science researchers without programming skills with the preparation of DNA and protein sequence FASTA files for multiple bioinformatics applications. However, the initial version of SEDA lacks a command-line interface for more advanced users and does not allow the creation of automated analysis pipelines. RESULTS: The present paper discusses the updates of the new SEDA release, including the addition of a complete command-line interface, new functionalities like gene annotation, a framework for automated pipelines, and improved integration in Linux environments. CONCLUSION: SEDA is an open-source Java application and can be installed using the different distributions available ( https://www.sing-group.org/seda/download.html ) as well as through a Docker image ( https://hub.docker.com/r/pegi3s/seda ). It is released under a GPL-3.0 license, and its source code is publicly accessible on GitHub ( https://github.com/sing-group/seda ). The software version at the time of submission is archived at Zenodo (version v1.6.0, http://doi.org/10.5281/zenodo.10201605 ).

Auto-phylo v2 and auto-phylo-pipeliner: building advanced, flexible, and reusable pipelines for phylogenetic inferences, estimation of variability levels and identification of positively selected amino acid sites.

The vast amount of genome sequence data that is available, and that is predicted to drastically increase in the near future, can only be efficiently dealt with by building automated pipelines. Indeed, the Earth Biogenome Project will produce high-quality reference genome sequences for all 1.8 million named living eukaryote species, providing unprecedented insight into the evolution of genes and gene families, and thus on biological issues. Here, new modules for gene annotation, further BLAST search algorithms, further multiple sequence alignment methods, the adding of reference sequences, further tree rooting methods, the estimation of rates of synonymous and nonsynonymous substitutions, and the identification of positively selected amino acid sites, have been added to auto-phylo (version 2), a recently developed software to address biological problems using phylogenetic inferences. Additionally, we present auto-phylo-pipeliner, a graphical user interface application that further facilitates the creation and running of auto-phylo pipelines. Inferences on S-RNase specificity, are critical for both cross-based breeding and for the establishment of pollination requirements. Therefore, as a test case, we develop an auto-phylo pipeline to identify amino acid sites under positive selection, that are, in principle, those determining S-RNase specificity, starting from both non-annotated Prunus genomes and sequences available in public databases.

Multiple Lines of Evidence Support 199 SARS-CoV-2 Positively Selected Amino Acid Sites.

SARS-CoV-2 amino acid variants that contribute to an increased transmissibility or to host immune system escape are likely to increase in frequency due to positive selection and may be identified using different methods, such as codeML, FEL, FUBAR, and MEME. Nevertheless, when using different methods, the results do not always agree. The sampling scheme used in different studies may partially explain the differences that are found, but there is also the possibility that some of the identified positively selected amino acid sites are false positives. This is especially important in the context of very large-scale projects where hundreds of analyses have been performed for the same protein-coding gene. To account for these issues, in this work, we have identified positively selected amino acid sites in SARS-CoV-2 and 15 other coronavirus species, using both codeML and FUBAR, and compared the location of such sites in the different species. Moreover, we also compared our results to those that are available in the COV2Var database and the frequency of the 10 most frequent variants and predicted protein location to identify those sites that are supported by multiple lines of evidence. Amino acid changes observed at these sites should always be of concern. The information reported for SARS-CoV-2 can also be used to identify variants of concern in other coronaviruses.

Post-traumatic stress disorder as a risk factor for major adverse cardiovascular events: a cohort study of a South African medical insurance scheme.

AIMS: Prior research, largely focused on US male veterans, indicates an increased risk of cardiovascular disease among individuals with post-traumatic stress disorder (PTSD). Data from other settings and populations are scarce. The objective of this study is to examine PTSD as a risk factor for incident major adverse cardiovascular events (MACEs) in South Africa. METHODS: We analysed reimbursement claims (2011-2020) of a cohort of South African medical insurance scheme beneficiaries aged 18 years or older. We calculated adjusted hazard ratios (aHRs) for associations between PTSD and MACEs using Cox proportional hazard models and calculated the effect of PTSD on MACEs using longitudinal targeted maximum likelihood estimation. RESULTS: We followed 1,009,113 beneficiaries over a median of 3.0 years (IQR 1.1-6.0). During follow-up, 12,662 (1.3%) persons were diagnosed with PTSD and 39,255 (3.9%) had a MACE. After adjustment for sex, HIV status, age, population group, substance use disorders, psychotic disorders, major depressive disorder, sleep disorders and the use of antipsychotic medication, PTSD was associated with a 16% increase in the risk of MACEs (aHR 1.16, 95% confidence interval (CI) 1.05-1.28). The risk ratio for the effect of PTSD on MACEs decreased from 1.59 (95% CI 1.49-1.68) after 1 year of follow-up to 1.14 (95% CI 1.11-1.16) after 8 years of follow-up. CONCLUSION: Our study provides empirical support for an increased risk of MACEs in males and females with PTSD from a general population sample in South Africa. These findings highlight the importance of monitoring cardiovascular risk among individuals diagnosed with PTSD.

Scoping Review of Fall Risk Assessment Tools for Women Who Receive Maternity Care.

OBJECTIVE: To identify and describe fall risk assessment tools used for women who receive maternity care. DATA SOURCES: PubMed, CINAHL Complete, MEDLINE Complete, Cochrane Library, Scopus, SciELO, and Repositórios Científicos de Acesso Aberto de Portugal (RCAAP). STUDY SELECTION: We considered reports published until November 28, 2022, that included women during pregnancy, childbirth, or the postpartum period; involved the use of fall risk assessment tools, regardless of context; and were published in English, French, Portuguese, or Spanish. DATA EXTRACTION: We extracted the following data from the included reports: author(s)/year/country, aim/sample, research design/type of report, tool (i.e., the fall risk assessment tool used), findings, reliability, and validity. DATA SYNTHESIS: We found 13 reports in which the authors addressed nine fall risk assessment tools. Seven of these tools were applied during pregnancy (Kyle's tool, Pregnant Women Information Form and Assessment Scale for Risk of Falling in Pregnant Women, Obstetric Fall Risk Assessment System), labor (Obstetric Fall Risk Assessment System), the postpartum period (Cooksey-Post Obstetric Delivery Fall Risk Assessment, Kyle's tool, Risk of Falling in Post-partum Women (SLOPE), Obstetric Fall Risk Assessment System, Post-epidural Fall Risk Assessment Score, and Maternal Fall Risk Assessment Scale). The Dionne's Egress Test and the Motor Strength Scale do not address the characteristics of the women who receive maternity care. Psychometric characteristics were available for the Pregnant Women Information Form and Assessment Scale for Risk of Falling in Pregnant Women, Post-epidural Fall Risk Assessment Score, Maternal Fall Risk Assessment Scale, and Risk of Falling in Post-partum Women. CONCLUSION: Some fall risk assessment tools are used to assess women who receive maternity care without proper validation in this specific population. The use of fall risk assessment tools that are validated for women who receive maternity care may help nurses make clinical judgments when assessing fall risk and implement measures for fall prevention.

A comprehensive evolutionary scenario for the origin and neofunctionalization of the Drosophila speciation gene Odysseus (OdsH).

Odysseus (OdsH) was the first speciation gene described in Drosophila related to hybrid sterility in offspring of mating between Drosophila mauritiana and Drosophila simulans. Its origin is attributed to the duplication of the gene unc-4 in the subgenus Sophophora. By using a much larger sample of Drosophilidae species, we showed that contrary to what has been previously proposed, OdsH origin occurred 62 MYA. Evolutionary rates, expression, and transcription factor-binding sites of OdsH evidence that it may have rapidly experienced neofunctionalization in male sexual functions. Furthermore, the analysis of the OdsH peptide allowed the identification of mutations of D. mauritiana that could result in incompatibility in hybrids. In order to find if OdsH could be related to hybrid sterility, beyond Sophophora, we explored the expression of OdsH in Drosophila arizonae and Drosophila mojavensis, a pair of sister species with incomplete reproductive isolation. Our data indicated that OdsH expression is not atypical in their male-sterile hybrids. In conclusion, we have proposed that the origin of OdsH occurred earlier than previously proposed, followed by neofunctionalization. Our results also suggested that its role as a speciation gene might be restricted to D. mauritiana and D. simulans.

Tool to assess risk of bias in studies estimating the prevalence of mental health disorders (RoB-PrevMH).

OBJECTIVE: There is no standard tool for assessing risk of bias (RoB) in prevalence studies. For the purposes of a living systematic review during the COVID-19 pandemic, we developed a tool to evaluate RoB in studies measuring the prevalence of mental health disorders (RoB-PrevMH) and tested inter-rater reliability. METHODS: We decided on items and signalling questions to include in RoB-PrevMH through iterative discussions. We tested the reliability of assessments by different users with two sets of prevalence studies. The first set included a random sample of 50 studies from our living systematic review. The second set included 33 studies from a systematic review of the prevalence of post-traumatic stress disorders, major depression and generalised anxiety disorder. We assessed the inter-rater agreement by calculating the proportion of agreement and Kappa statistic for each item. RESULTS: RoB-PrevMH consists of three items that address selection bias and information bias. Introductory and signalling questions guide the application of the tool to the review question. The inter-rater agreement for the three items was 83%, 90% and 93%. The weighted kappa scores were 0.63 (95% CI 0.54 to 0.73), 0.71 (95% CI 0.67 to 0.85) and 0.32 (95% CI -0.04 to 0.63), respectively. CONCLUSIONS: RoB-PrevMH is a brief, user-friendly and adaptable tool for assessing RoB in studies on prevalence of mental health disorders. Initial results for inter-rater agreement were fair to substantial. The tool's validity, reliability and applicability should be assessed in future projects.

Impact of Heat Stress on Transposable Element Expression and Derived Small RNAs in Drosophila subobscura.

Global warming is forcing insect populations to move and adapt, triggering adaptive genetic responses. Thermal stress is known to alter gene expression, repressing the transcription of active genes, and inducing others, such as those encoding heat shock proteins. It has also been related to the activation of some specific transposable element (TE) families. However, the actual magnitude of this stress on the whole genome and the factors involved in these genomic changes are still unclear. We studied mRNAs and small RNAs in gonads of two Drosophila subobscura populations, considered a good model to study adaptation to temperature changes. In control conditions, we found that a few genes and TE families were differentially expressed between populations, pointing out their putative involvement in the adaptation of populations to their different environments. Under heat stress, sex-specific changes in gene expression together with a trend toward overexpression, mainly of heat shock response-related genes, were observed. We did not observe large changes of TE expression nor small RNA production due to stress. Only population and sex-specific expression changes of some TE families (mainly retrotransposons), or the amounts of siRNAs and piRNAs, derived from specific TE families were observed, as well as the piRNA production from some piRNA clusters. Changes in small RNA amounts and TE expression could not be clearly correlated, indicating that other factors as chromatin modulation could also be involved. This work provides the first whole transcriptomic study including genes, TEs, and small RNAs after a heat stress in D. subobscura.

Urban Governance, Multisectoral Action, and Civic Engagement for Population Health, Wellbeing, and Equity in Urban Settings: A Systematic Review.

Objectives: To identify the validated and reliable indicators and tools to assess good governance for population health, wellbeing, and equity in urban settings, and assess processes of multisectoral action and civic engagement as reported by peer-reviewed articles. Methods: We conducted a systematic review searching six databases for observational studies reporting strategies of either urban health, multisectoral action or civic engagement for wellbeing, health, or equity. Results: Out of 8,154 studies initially identified we included 17. From the included studies, 14 presented information about high-income countries. The general population was the main target in most studies. Multisectoral action was the most frequently reported strategy (14 studies). Three studies used Urban Health Equity Assessment and Response Tool (Urban HEART). Health indicators were the most frequently represented (6 studies). Barriers and facilitators for the implementation of participatory health governance strategies were reported in 12 studies. Conclusion: Data on the implementation of participatory health governance strategies has been mainly reported in high-income countries. Updated and reliable data, measured repeatedly, is needed to closely monitor these processes and further develop indicators to assess their impact on population health, wellbeing, and equity.

ChimeraTE: a pipeline to detect chimeric transcripts derived from genes and transposable elements.

Transposable elements (TEs) produce structural variants and are considered an important source of genetic diversity. Notably, TE-gene fusion transcripts, i.e. chimeric transcripts, have been associated with adaptation in several species. However, the identification of these chimeras remains hindered due to the lack of detection tools at a transcriptome-wide scale, and to the reliance on a reference genome, even though different individuals/cells/strains have different TE insertions. Therefore, we developed ChimeraTE, a pipeline that uses paired-end RNA-seq reads to identify chimeric transcripts through two different modes. Mode 1 is the reference-guided approach that employs canonical genome alignment, and Mode 2 identifies chimeras derived from fixed or insertionally polymorphic TEs without any reference genome. We have validated both modes using RNA-seq data from four Drosophila melanogaster wild-type strains. We found ∼1.12% of all genes generating chimeric transcripts, most of them from TE-exonized sequences. Approximately ∼23% of all detected chimeras were absent from the reference genome, indicating that TEs belonging to chimeric transcripts may be recent, polymorphic insertions. ChimeraTE is the first pipeline able to automatically uncover chimeric transcripts without a reference genome, consisting of two running Modes that can be used as a tool to investigate the contribution of TEs to transcriptome plasticity.

Life years lost associated with mental illness: A cohort study of beneficiaries of a South African medical insurance scheme.

BACKGROUND: People with mental illness have a reduced life expectancy, but the extent of the mortality gap and the contribution of natural and unnatural causes to excess mortality among people with mental illness in South Africa are unknown. METHODS: We analysed reimbursement claims from South African medical insurance scheme beneficiaries aged 15-85 years. We estimated excess life years lost (LYL) associated with organic, substance use, psychotic, mood, anxiety, eating, personality, developmental or any mental disorders. RESULTS: We followed 1,070,183 beneficiaries for a median of three years, of whom 282,926 (26.4 %) received mental health diagnoses. Men with a mental health diagnosis lost 3.83 life years (95 % CI 3.58-4.10) compared to men without. Women with a mental health diagnosis lost 2.19 life years (1.97-2.41) compared to women without. Excess mortality varied by sex and diagnosis, from 11.50 LYL (95 % CI 9.79-13.07) among men with alcohol use disorder to 0.87 LYL (0.40-1.43) among women with generalised anxiety disorder. Most LYL were attributable to natural causes (men: 3.42, women: 1.94). A considerable number of LYL were attributable to unnatural causes among men with bipolar (1.52) or substance use (2.45) disorder. LIMITATIONS: Mental diagnoses are based on reimbursement claims. CONCLUSIONS: Premature mortality among South African individuals with mental disorders is high. Our findings support interventions for the prevention, early detection, and treatment of physical comorbidities in this population. Targeted programs for suicide prevention and substance use treatment, particularly among men, can help reduce excess mortality from unnatural causes.

A Quantitative, Genome-Wide Analysis in Drosophila Reveals Transposable Elements' Influence on Gene Expression Is Species-Specific.

Transposable elements (TEs) are parasite DNA sequences that are able to move and multiply along the chromosomes of all genomes. They can be controlled by the host through the targeting of silencing epigenetic marks, which may affect the chromatin structure of neighboring sequences, including genes. In this study, we used transcriptomic and epigenomic high-throughput data produced from ovarian samples of several Drosophila melanogaster and Drosophila simulans wild-type strains, in order to finely quantify the influence of TE insertions on gene RNA levels and histone marks (H3K9me3 and H3K4me3). Our results reveal a stronger epigenetic effect of TEs on ortholog genes in D. simulans compared with D. melanogaster. At the same time, we uncover a larger contribution of TEs to gene H3K9me3 variance within genomes in D. melanogaster, which is evidenced by a stronger correlation of TE numbers around genes with the levels of this chromatin mark in D. melanogaster. Overall, this work contributes to the understanding of species-specific influence of TEs within genomes. It provides a new light on the considerable natural variability provided by TEs, which may be associated with contrasted adaptive and evolutionary potentials.

Domestic Violence against LGBTI People: Perspectives of Portuguese Education Professionals.

Lesbian, gay, bisexual, trans and intersex (LGBTI) people are more likely to be exposed to domestic violence than the rest of the population. Using a descriptive qualitative methodology, 28 professionals from the educational sector, aged between 28 and 64 years old (M = 44.5), were interviewed to describe and understand their perspectives on the sector's ability to support, intervene and get involved with LGBTI people and, particularly, with victims or former victims of domestic violence. Through a thematic content analysis, three main themes emerged: (i) life trajectories of LGBTI people; (ii) domestic violence perpetrated against LGBTI people; and (iii) training of the educational sector to intervene with LGBTI people. The results show that Portuguese education professionals are not trained to recognize and intervene with LGBTI people and, in particular, with those who are victims of domestic violence, since they are unaware of the existence of protocols and/or guidelines for detecting and preventing risk situations among students. Furthermore, the curricular plan fails in the coverage of domestic violence and LGBTI-related topics, although the National Strategy for Citizenship Education has been implemented in Portugal since 2017. Findings suggest the need to invest in education professionals' training.

Maternal and perinatal risk factors associated with congenital syphilis.

OBJECTIVE: Mother-to-child transmission of syphilis remains an important global public health problem. Untreated intrauterine infection may result in adverse events for the fetus or newborn (NB). Maternal risk factors, such as prenatal care, early diagnosis, and appropriate treatment, significantly impact the likelihood of vertical transmission of syphilis. The purpose of this review is to evaluate maternal risk factors for congenital syphilis and the characteristics of exposed NB. METHODS: A total of 14 studies were evaluated, including 8 cohort studies, 4 cross-sectional and 2 control cases. A total of 12,230 women were included, with confirmed or highly probable congenital syphilis outcome, and 2285 NB. The studies evaluated risk factors for congenital syphilis, which were maternal, demographic, obstetric factors and characteristics of the exposed NB. RESULTS: Included in the risk factors studied, inadequate prenatal care and late onset, as well as inadequate or late treatment of maternal syphilis were significant risk factors for the outcome of congenital syphilis. When the time set of maternal diagnosis was correlated with neonatal infection, there was a tendency to worsen prognosis (more infected NB) in women diagnosed later in pregnancy, as well as in women who underwent few prenatal consultations and inadequate treatment. Women with recent syphilis with high VDRL titres had a higher rate of vertical transmission. The prior history of syphilis with adequate treatment was identified as a protective factor, resulting in lower rates of congenital syphilis. Among the epidemiological and demographic aspects surveyed, it was observed that young age, lower schooling, unemployment, low family income and no fixed residence were associated with higher risk of congenital syphilis. CONCLUSIONS: The association of syphilis with adverse socio-economic conditions and inadequate prenatal care suggests that the improvement of the population's living conditions and equitable access to quality health services may have an impact on the reduction of congenital syphilis.

Attitudes and Behaviors towards Vaccination in Portuguese Nursing Students.

Knowing the attitudes and behaviors of nursing students in relation to vaccination is important because they will soon be determinant for the health literacy of the population. Vaccination remains the most effective response in the fight against communicable diseases, including COVID-19 and influenza. The objective of this study is to analyze the attitudes and behaviors of Portuguese nursing students with regard to vaccination. A cross-sectional study was carried out, with data collection from nursing students at a university in Lisbon, Portugal. A sample of 216 nursing students was obtained, representing 67.1% of the students enrolled in this university. What stands out from the results of the questionnaire "Attitudes and Behaviors in Relation to Vaccination among Students of Health Sciences" is that for the majority of students the answers were positive; in addition, 84.7% had a completed vaccination schedule for COVID-19. Being a nursing student, being in the final years of the course and being a woman are the factors that most influence the positive attitude of the students. The results obtained are motivating, because these students will be the future health professionals most likely to integrate health promotion programs through vaccination.

The Josephin domain (JD) containing proteins are predicted to bind to the same interactors: Implications for spinocerebellar ataxia type 3 (SCA3) studies using Drosophila melanogaster mutants.

Spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/ MJD), is the most frequent polyglutamine (polyQ) neurodegenerative disorder. It is caused by a pathogenic expansion of the polyQ tract, located at the C-terminal region of the protein encoded by the ATXN3 gene. This gene codes for a deubiquitinating enzyme (DUB) that belongs to a gene family, that in humans is composed by three more genes (ATXN3L, JOSD1, and JOSD2), that define two gene lineages (the ATXN3 and the Josephins). These proteins have in common the N-terminal catalytic domain (Josephin domain, JD), that in Josephins is the only domain present. In ATXN3 knock-out mouse and nematode models, the SCA3 neurodegeneration phenotype is not, however, reproduced, suggesting that in the genome of these species there are other genes that are able to compensate for the lack of ATXN3. Moreover, in mutant Drosophila melanogaster, where the only JD protein is coded by a Josephin-like gene, expression of the expanded human ATXN3 gene reproduces multiple aspects of the SCA3 phenotype, in contrast with the results of the expression of the wild type human form. In order to explain these findings, phylogenetic, as well as, protein-protein docking inferences are here performed. Here we show multiple losses of JD containing genes across the animal kingdom, suggesting partial functional redundancy of these genes. Accordingly, we predict that the JD is essential for binding with ataxin-3 and proteins of the Josephin lineages, and that D. melanogaster mutants are a good model of SCA3 despite the absence of a gene from the ATXN3 lineage. The molecular recognition regions of the ataxin-3 binding and those predicted for the Josephins are, however, different. We also report different binding regions between the two ataxin-3 forms (wild-type (wt) and expanded (exp)). The interactors that show an increase in the interaction strength with exp ataxin-3, are enriched in extrinsic components of mitochondrial outer membrane and endoplasmatic reticulum membrane. On the other hand, the group of interactors that show a decrease in the interaction strength with exp ataxin-3 is significantly enriched in extrinsic component of cytoplasm.

Sex differences in adult lifespan and aging rate across mammals: A test of the 'Mother Curse hypothesis'.

In many animal species, including humans, males have shorter lifespan and show faster survival aging than females. This differential increase in mortality between sexes could result from the accumulation of deleterious mutations in the mitochondrial genome of males due to the maternal mode of mtDNA inheritance. To date, empirical evidence supporting the existence of this mechanism - called the Mother Curse hypothesis - remains largely limited to a few study cases in humans and Drosophila. In this study, we tested whether the Mother Curse hypothesis accounts for sex differences in lifespan and aging rate across 128 populations of mammals (60 and 68 populations studied in wild and captive conditions, respectively) encompassing 104 species. We found that adult lifespan decreases with increasing mtDNA neutral substitution rate in both sexes in a similar way in the wild - but not in captivity. Moreover, the aging rate marginally increased with neutral substitution rate in males and females in the wild. Overall, these results indicate that the Mother Curse hypothesis is not supported across mammals. We further discuss the implication of these findings for our understanding of the evolution of sex differences in mortality and aging.

Autopreconceito e preconceito social no quotidiano de pessoas com lesão medular e suas famílias / Self-reception and social prejudice in the daily life of people with spinal cord injury and their families / Autoconvención y prejuicio social en la vida cotidiana de las personas con lesiones medulares y sus familias

Objetivo: Compreender a vivência do autopreconceito e do preconceito social no cotidiano de pessoas com lesão medular e de suas famílias. Métodos: Estudo interpretativo, qualitativo, desenvolvido com 21 participantes (12 pessoas com lesão medular e 9 familiares), de um Centro Especializado de Reabilitação no sul do Brasil, cujas fontes de evidências foram entrevistas individual e duas oficinas que corroboram para validação dos dados. Para o agrupamento e organização dos dados, utilizou-se o software Atlas.ti e a análise dos dados envolveu: análise preliminar, ordenação, ligações-chaves, codificação e categorização, guiada pelo olhar da Sociologia Compreensiva e do Quotidiano. Resultados: Evidencia o autopreconceito: marcas no corpo e na alma, cadeira de rodas e a percepção negativa da doença, do declínio à reconstrução da autoimagem; preconceito nas mais diversas dimensões: familiar e social. Conclusão: O autopreconceito influencia negativamente a autoimagem, criando um mecanismo de defesa e de negação da condição de vivenciar a lesão medular. A família é determinante na transformação do quotidiano e da maneira como a pessoa convive e percebe a sua condição. Precisa-se de uma sensibilização para o olhar sobre pré-conceitos estabelecidos que implicam sobre a segregação de pessoas em sociedade. (AU)

Objective: To understand the experience of self-concept and social prejudice in the daily lives of people with spinal cord injury and their families. Methods: Interpretative, qualitative study, developed with 21 participants (12 people with spinal cord injury and 9 family members), of a Specialized Rehabilitation Center in southern Brazil, whose sources of evidence were individual interviews and two workshops that corroborate for data validation. For the grouping and organization of the data, the Atlas.ti software was used and the analysis of the data involved: preliminary analysis, ordering, key links, coding and categorization, guided by the gaze of Comprehensive Sociology and Everyday Life. Results: Evidence of self-concept: marks on the body and soul, wheelchair and the negative perception of the disease, from the decline to the reconstruction of self-image; prejudice in the dimensions: family and social. Conclusion: Self-prejudice negatively influences self-image, creating a mechanism of defense and denial of condition experiencing spinal cord injury. The family is decisive in everyday transformation the way that a person lives and perceives his condition. We need a sensibilization to look established preconceptions that imply about the segregation of people in society. (AU)

Objetivo: Comprender la vivencia del autopreconceito y del prejuicio social en el cotidiano de personas con lesión de la médula espinal y de sus familias. Métodos: Estudio interpretativo cualitativo, desarrollado con 21 participantes (12 personas con lesión medular y 9 familiares), de un Centro Especializado de Rehabilitación en el sur de Brasil, cuyas fuentes de evidencia fueron entrevistas individuales y dos talleres que corroboraron la validación de datos. Para la agrupación y organización de los datos, se utilizó el software Atlas.ti y el análisis de los datos implicó: análisis preliminar, ordenación, enlaces claves, codificación y categorización, guiada por la mirada de la Sociología Comprensiva y del Cotidiano. Resultados: evidencia del autopreconceito: marcas en el cuerpo y en el alma, silla de ruedas y la percepción negativa de la enfermedad, del declive a la reconstrucción de la autoimagen; prejuicio en las dimensiones: familiar y social. Conclusion: el auto prejuicio influencia negativamente la autoimagen, creando un mecanismo de defensa y de negación de la condición experimentando una lesión en la médula espinal. La familia es determinante en la transformación de la vida cotidiana y en que la persona que vive y se da cuenta de su condición. Se necesita una conciencia para mirar los preconceptos establecidos que implican sobre la segregación de las personas en la sociedad. (AU)

On the identification of potential novel therapeutic targets for spinocerebellar ataxia type 1 (SCA1) neurodegenerative disease using EvoPPI3.

EvoPPI (http://evoppi.i3s.up.pt), a meta-database for protein-protein interactions (PPI), has been upgraded (EvoPPI3) to accept new types of data, namely, PPI from patients, cell lines, and animal models, as well as data from gene modifier experiments, for nine neurodegenerative polyglutamine (polyQ) diseases caused by an abnormal expansion of the polyQ tract. The integration of the different types of data allows users to easily compare them, as here shown for Ataxin-1, the polyQ protein involved in spinocerebellar ataxia type 1 (SCA1) disease. Using all available datasets and the data here obtained for Drosophila melanogaster wt and exp Ataxin-1 mutants (also available at EvoPPI3), we show that, in humans, the Ataxin-1 network is much larger than previously thought (380 interactors), with at least 909 interactors. The functional profiling of the newly identified interactors is similar to the ones already reported in the main PPI databases. 16 out of 909 interactors are putative novel SCA1 therapeutic targets, and all but one are already being studied in the context of this disease. The 16 proteins are mainly involved in binding and catalytic activity (mainly kinase activity), functional features already thought to be important in the SCA1 disease.