Quality of working life of professors in times of social distancing.

Introduction: Quality of working life consists in a dynamic management of physical, technological, and sociopsychological factors that affect culture and renovate the organizational climate, reflecting on workers' wellbeing. Objectives: To identify changes in eating habits, physical activity, and hours of sleep, as well as their influence on the quality of working life of professors who shifted to remote working during the pandemic. Methods: This study has a quantitative, descriptive, observational design and was performed with faculty members of a private higher education institution in May 2020; 40 professors participated in our research. We used a virtual questionnaire containing Walton's quality of working life scale (1973) and questions on lifestyle habits. Results: We observed that changes in lifestyle habits were correlated with lower or higher perceptions of satisfaction with the 4 evaluated criteria referring to quality of life: working conditions, use of capacities at work, social interaction at work, and the space work occupies in life. Conclusions: The mean quality of working life score of faculty members working remotely during lockdown demonstrated that, despite changes in work and lifestyle habits, professors still maintained a certain degree of satisfaction with the aspects of work evaluated in this study.

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.

Germline pathogenic variants in the DNA mismatch repair genes (MMR): MLH1, MSH2, MSH6, and PMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS ± 1, IVS ± 2) are classified as variants of unknown significance (VUS). Three such variants (MLH1 c.588+5G>C, c.588+5G>T and c.677+5G>A) were identified in 8 unrelated LS families from Argentina, Brazil and Chile. Herein, we collected clinical information on these families and performed segregation analysis and RNA splicing studies to assess the implication of these VUS in LS etiology. Pedigrees showed a clear pattern of variant co-segregation with colorectal cancer and/or other LS-associated malignancies. Tumors presented deficient expression of MLH1-PMS2 proteins in 7/7 of the LS families, and MSI-high status in 3/3 cases. Moreover, RNA analyses revealed that c.588+5G>C and c.588+5G>T induce skipping of exon 7 whereas c.677+5G>A causes skipping of exon 8. In sum, we report that the combined clinical findings in the families and the molecular studies provided the evidences needed to demonstrate that the three MLH1 variants are causative of LS and to classify c.588+5G>C and c.677+5G>A as class 5 (pathogenic), and c.588+5G>T as class 4 (likely-pathogenic). Our findings underline the importance of performing clinical and family analyses, as well as RNA splicing assays in order to determine the clinical significance of intronic variants, and contribute to the genetic counseling and clinical management of patients and their relatives.

O psicanalista na clínica com bebês hospitalizados / The psychoanalyst and hospitalized infants / El psicoanalista en la clínica con bebés hospitalizados

A prática clínica com bebês hospitalizados despertou no analista o interesse pela constituição psíquica e pelas dimensões do enigma infantil. O psicanalista no hospital acolhe o encontro mãe e bebê como "resto" que escapa aos cuidados médicos, para escutar e intervir no que incide de singular nessa relação primordial e fundamental. A contingência da malformação congênita foi considerada, porém não como uma sentença definitiva que anulasse o desejo do bebê e de sua mãe. O incognoscível, esse ponto que escapa à medicina, constata a ligação ativa do corpo e do psiquismo de um ser humano em constituição.

The clinical practice with hospitalized infants sparks the analyst's interest for their mental constitution and for the dimensions of the enigma of childhood. The hospital's psychoanalyst shelters the encounter between mother and baby as a "rest" that escapes medical care, listening to and intervening in that which involves the singular in this primordial and fundamental relation. The contingency of congenital malformation was considered, although not as a final sentence that would nullify the infant's and his/her mother's desire. The unknowable, this point that escapes medical science, acknowledges the active bond between body and mind in the human being's constitution.

La práctica clínica con bebés ha despertado el interés del analista por la constitución psíquica y por las dimensiones del enigma infantil. El psicoanalista en el hospital acoge el encuentro entre madre y bebé cómo un "resto" que escapa a los cuidados médicos, para escuchar e intervenir en aquello que incide de singular en esa relación primordial y fundamental. La contingencia de la malformación congénita fue considerada, pero no cómo una sentencia final que anularía el deseo de la madre y del bebé. El incognoscible, el punto que escapa a la ciencia médica, constata el lazo activo entre cuerpo y psiquismo en la constitución del ser humano.

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

BACKGROUND: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. METHODS: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome. RESULTS: We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet. CONCLUSION: The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries.

Contributos para a construção de um texto foneticamente equilibrado para o Português-Europeu / Contributions to the elaboration of a phonetically balanced text for the European-Portuguese

OBJECTIVO: o objectivo deste estudo consiste na criação de um Texto Foneticamente Equilibrado para o Português-Europeu (PE) designado "O Sol". MÉTODO: quatro sujeitos da região de Setúbal, entre [21-49] anos (dois do sexo feminino e dois do masculino) leram em voz alta o texto "O Sol". As gravações realizadas com Olympus (VN- 240PC e VN- 2100PC com microfones integrados) serviram para a contabilização dos fonemas produzidos. Os procedimentos foram: 1) a comparação entre as frequências relativas dos fonemas do "O Sol" e as frequências relativas descritas no PF_fone, através do coeficiente de correlação de Pearson e do teste de Mann-Whitney; 2) a comparação entre a transcrição larga e a estreita, verificando-se os fenómenos de coarticulação; e 3) a análise dos formatos silábicos. RESULTADOS: a análise estatística demonstrou que as frequências relativas de ocorrência dos fonemas do texto "O Sol" têm uma correlação forte com as do PF_fone (r = 0,924). As medianas das frequências relativas de ocorrência dos fonemas do texto foram significativamente iguais das do PF_fone (p<.05). CONCLUSÃO: o texto "O Sol" está próximo de um texto foneticamente equilibrado ideal, uma vez que se verificaram os pressupostos pré-definidos. Fonologicamente, apresenta os formatos silábicos mais frequentes no PE, verificou-se ainda uma diminuição na frequência relativa de fonemas na transcrição estreita, devido a fenómenos de coarticulação. Futuros trabalhos incidirão no aumento da amostra.

PURPOSE: the aim of this study is to elaborate a Phonetically Balanced Text for the European-Portuguese (EP) called "O Sol" (The Sun). METHOD: four subjects (two females and two males) with [21-49] year-old read aloud the text. Recordings were obtained with Olympus (VN-240PC and VN-2100PC) and were used to account the produced phonemes. The procedures were: 1) the comparison between the relative frequency of the phonemes of "O Sol" and the relative frequency described in PF_fone through the correlation coefficient of Pearson and the Mann-Whitney, 2) the comparison between the large and short transcriptions in order to analyze the co-articulation phenomenon 3) the analysis of the syllabic formats. RESULTS: statistical analysis showed that relative frequency occurrence of phonemes of the text "O Sol" have a strong correlation with those of PF_fone (r = 0,924). The median values of the relative frequency occurrence of phonemes of "O Sol" were significantly equal to the PF_fone (p<.05). CONCLUSION: the text "O Sol (The Sun)" is close to an ideal phonetically balanced text, since it achieved the predefined assumptions. Phonologically, it shows the most common formats syllable in the EP. We verified a decrease in relative frequency of phonemes in the close transcription, due to co-articulation phenomenon. Future work will focus on increasing said sample.

Relações interpessoais, equipe de trabalho e seus reflexos na atenção básica / Interpersonal relations, teamwork, and the impact on primary care

A formação e afirmação de vínculos profissionais têm por finalidade o desenvolvimento de relações interpessoais em equipes de trabalho, compreendendo a sua realidade para promover o crescimento de cada um dos profissionais individualmente e do grupo de trabalho como um todo, facilitando a resolução dos conflitos. O presente trabalho teve por objetivo resgatar as relações de trabalho em uma equipe multiprofissional para a formação de vínculos profissionais saudáveis. Foi realizada uma pesquisa convergente-assistencial, adotando-se uma abordagem construtivista de caráter qualitativo. O estudo foi feito em uma USF localizada na periferia da cidade de Pelotas - RS. Os sujeitos desse estudo foram nove profissionais, entre eles: dois médicos, três enfermeiros, três auxiliares de enfermagem e uma assistente social, que contaram ainda com dois acadêmicos da graduação em Enfermagem da UFPel. Portanto, foi possível vivenciar a experiência da Teoria dos Vínculos Profissionais, que proporcionou ao grupo momentos de reflexão a respeito da dinâmica das relações na equipe multiprofissional, permitindo com se alcançasse o objetivo desejado.

The creation and affirmation of professional links aims to develop interpersonal relations in work teams, understanding their reality in order to foster the professionals' individual growth and that of the team as a whole, thereby facilitating conflict resolution. The current study aimed to reclaim the work relations in a multidisciplinary team in order to form healthy professional links. A convergent care study was performed using a constructivist qualitative methodology. The study was conducted in a Family Health Unit located on the periphery of the city of Pelotas, Rio Grande do Sul State, Brazil. The study subjects were nine health professionals: two physicians, three nurses, three nurse technicians, and one social worker, plus two undergraduate nursing students. It was thus possible to witness an experience with the Theory of Professional Links, providing the group with moments of reflection on the dynamics of multidisciplinary team relations and allowing the study to achieve its objective.

Práticas dos trabalhadores de saúde na comunidade nos modelos de atenção básica do Sul e Nordeste do Brasil / Health workers' community practices in primary health care models in South and Northeast Brazil

In order to verify the prevalence of health workers' participation in health practices in the community, a cross-sectional study was conducted with 3,743 primary care health workers in 41 municipalities with more than 100 thousand inhabitants each in South and Northeast Brazil. Overall prevalence of participation in the community was 62.7 percent, and was significantly higher in the Northeast and in the Family Health Program (FHP). The most common practice was health education on special holidays, in talks, and in groups. There was a positive association between participation and: female gender, training in the management of chronic diseases, use of protocols, satisfaction with community meetings, and academic health services. Differences in the prevalence of participation by region and health care model reaffirmed the inherent expectations in the historical context of reorganization of primary care. The results indicate that it is necessary to expand participation by health workers in the community, considering that primary care is the level of care that provides the best possibilities for promoting health practices with equity.

Com o objetivo de verificar a prevalência de participação em práticas de saúde na comunidade, foi realizado um estudo transversal com 3.743 trabalhadores da atenção básica à saúde de 41 municípios com mais de 100 mil habitantes das regiões Sul e Nordeste do Brasil. A prevalência de participação foi de 62,7 por cento, sendo significativamente maior no Nordeste e no Programa Saúde da Família (PSF). A prática mais realizada foi educação em saúde em datas festivas, palestras e grupos. Verificou-se associação positiva do desfecho com sexo (feminino), capacitação no manejo de doenças crônicas, utilização de protocolos, satisfação com reuniões comunitárias e unidade de saúde com ensino. As diferenças da prevalência do desfecho por região e modelo reafirmam as expectativas inerentes ao contexto histórico da reorganização da atenção básica à saúde. Os resultados indicam que é necessário ampliar a participação dos trabalhadores de saúde junto à comunidade, considerando que a atenção básica à saúde é o nível de atenção que oferece a possibilidade de construção de práticas equânimes em saúde.

[Health workers' community practices in primary health care models in South and Northeast Brazil]. / Práticas dos trabalhadores de saúde na comunidade nos modelos de atenção básica do Sul e Nordeste do Brasil.

In order to verify the prevalence of health workers' participation in health practices in the community, a cross-sectional study was conducted with 3,743 primary care health workers in 41 municipalities with more than 100 thousand inhabitants each in South and Northeast Brazil. Overall prevalence of participation in the community was 62.7%, and was significantly higher in the Northeast and in the Family Health Program (FHP). The most common practice was health education on special holidays, in talks, and in groups. There was a positive association between participation and: female gender, training in the management of chronic diseases, use of protocols, satisfaction with community meetings, and academic health services. Differences in the prevalence of participation by region and health care model reaffirmed the inherent expectations in the historical context of reorganization of primary care. The results indicate that it is necessary to expand participation by health workers in the community, considering that primary care is the level of care that provides the best possibilities for promoting health practices with equity.

Cidadania em saúde mental e a participação popular / Citizenship in mental health and popular participation / Ciudadanía en salud mental y la participación popular

Neste texto buscou-se refletir sobre a evolução da cidadania no campo da saúde mental, tendo como objetivocontribuir com os debates acerca da participação dos usuários dos serviços de saúde na construção de seu espaço social eno exercício da cidadania. No Brasil, as discussões envolvendo a cidadania no campo da saúde tomaram forma após o períodode autoritarismo. No âmbito da saúde mental, o ano de 1978 marcou o início dos movimentos sociais em busca dos direitosdos portadores de transtornos mentais. O movimento da Reforma Psiquiátrica apontou a insuficiência do modelo manicomial,assinalando os desafios a serem superados na estruturação da cidadania dos usuários dos serviços de saúde mental. Aaquisição dos direitos dos cidadãos com transtornos mentais não se dará exclusivamente com a desinstitucionalização, masatravés de um processo de construção coletiva, buscando consolidar uma rede integrada de cuidados.

In this paper we tried to reflect on the evolution of citizenship in the of mental health, with the aim ofcontributing to the discussions about the users? involvement of health services in the construction of their social spaceand in the exercise of citizenship. In Brazil, the discussions surrounding the citizenship in the health took shape afterthe authoritarianism period. On mental health, the year of 1978 marked the beginning of social movements which soughtthe rights of individuals with mental disorders. The Psychiatric Reform Movement pointed to the failure of the asylummodel, noting the challenges to be overcame for the users of mental health services citizenship structuring. The acquisitionof the rights of people with mental disorders will not happen exclusively with the deinstitutionalization process, butthrough a collective construction process, seeking to consolidate an integrated network of care.

En este texto se ha procurado reflexionar acerca de la evolución de la ciudadanía en el campo de la saludmental, teniendo como objetivo contribuir con los debates sobre la participación de los usuarios de los servicios de saluden la construcción de su espacio social y en el ejercicio de la ciudadanía. En Brasil, las discusiones envolviendo laciudadanía en el campo de la salud tomaron forma después del periodo del autoritarismo. En el ámbito de la salud mental,el año 1978 marcó el inicio de los movimientos sociales en búsqueda de los derechos de los portadores de trastornosmentales. El movimiento de la Reforma Psiquiátrica apuntó la insuficiencia del modelo manicomial, señalando los desafíosque deben ser superados en la estructuración de la ciudadanía de los usuarios de los servicios de salud mental. Laadquisición de los derechos de los ciudadanos con perturbaciones mentales no se dará exclusivamente con ladesinstitucionalización, pero si por medio de un proceso de construcción colectiva, buscando consolidar una red integradade cuidados.

O Impacto da rizotomia dorsal seletiva na qualidade de vida de crianças espásticas portadoras de paralisia cerebral / The impact of seletctive dorsal rhizotomy on the quality of life of spastic children with cerebral palsy

Objetivo: A rizotomia dorsal seletiva (RDS) é uma técnica clássica para tratamento da espasticidade em crianças com paralisia cerebral. Em nosso Serviço, é utilizada, além do objetivo funcional (deambulação), para melhoria da qualidade de vida da criança e do cuidador. O propósito do estudo foi avaliar a eficácia e o impacto do procedimento nesses indivíduos. Materiais e métodos: Um questionário sobre a qualidade de vida das crianças e cuidadores foi elaborado e enviado a 16 cuidadores de crianças submetidas à RDS, sendo posteriormente recuperados e analisados. Resultados: A maioria dos cuidadores julgou que houve melhora nos diversos quesitos relacionados à rotina diária, à facilitação para realização de cuidados e no posicionamento e transporte de criança. A maioria percebeu melhora no bem-estar e no estado de saúde. Dos cuidaores, 94 por cento se declararam satisfeitos com o procedimento. Conclusão: A RDS parece melhorar a qualidade de vida de crianças gravemente comprometidas pela espasticidade na PC, bem como a de seus cuidadores...