Impact of Syringe and Needle Reuse on the Clinical Outcomes of Patients With Type 2 Diabetes: A 12-Week Randomized Clinical Trial.

OBJECTIVE: To evaluate the clinical and laboratory outcomes of patients with type 2 diabetes by comparing the no reuse or reuse of syringes and needles for insulin injection. RESEARCH DESIGN AND METHODS: Adults with type 2 diabetes who had reused syringes and needles at least three times were randomly instructed either to not reuse or to reuse insulin syringes and needles five times. The primary outcomes assessed were glycemic control, pain scores, and skin complications (ecchymosis, lipohypertrophy, nodules, infection) at baseline and 4, 8, and 12 weeks after the intervention. Secondary outcomes included treatment adherence, quality of life, microbiological contamination of syringes and needles, needle quality, and insulin injection technique. RESULTS: Among the 71 participants (mean ± SD age 59.7 ± 8.8 years), 59% were women with a median duration of diabetes of 18 years (interquartile range 10-25 years) and a mean BMI of 31.7 ± 6.7 kg/m2. The group that reused syringes and needles experienced an increase in lipohypertrophy/nodules (0.16 ± 0.08, P = 0.040) but did not experience worsening pain or glycemic control, even when the syringes and needles were inserted into the skin with great effort. There was no difference in the total number of skin complications, quality of life, or microbiological contamination. Both groups improved treatment adherence, with a greater increase in the reuse group. CONCLUSIONS: The reuse of syringes and needles is associated with a modest increase in lipohypertrophy/nodules but does not have a short-term impact on glycemic control in patients with type 2 diabetes.

Students' and graduates' perceptions on problem-based learning in nursing undergraduate education. / Perspectivas de estudantes e egressos sobre a aprendizagem baseada em problemas na formação de enfermeiros.

This study aimed to analyze students' and graduates' perceptions regarding the use of Problem-Based Learning (PBL) in nurse education. This is a qualitative study that employs the comprehensive and interpretative approach proposed by Dialectical Hermeneutics. Four focus groups were conducted with the participation of 17 students and 16 graduates from a higher education institution that implements PBL in nurse education. The analysis of results allowed for the identification of five thematic categories: difficulty in adapting to the method; attainment of autonomy in one's own learning; encouragement of clinical reasoning development; enhancement of communication and interpersonal relationships; and integration between theory and practice. It is evident that the use of PBL promotes alignment with the propositions of curriculum guidelines for nurse education by fostering the development of skills and competencies such as autonomy, communication, interpersonal relationships, and clinical reasoning through comprehensive and contextualized practices. However, students encounter challenges with the changes observed when introduced to PBL, which are overcome during the implementation process.

Objetivou-se analisar a percepção de estudantes e egressos sobre a utilização da Aprendizagem Baseada em Problemas (ABP) na formação do enfermeiro. Trata-se de um estudo qualitativo que utiliza a modalidade compreensiva e interpretativa proposta pela Hermenêutica-Dialética. Realizaram-se quatro grupos focais com a participação de 17 estudantes e 16 egressos de uma instituição de ensino superior que aplica a ABP na formação de enfermeiros. A análise dos resultados permitiu a definição de cinco categorias temáticas: dificuldade de adaptação em relação ao método; conquista de autonomia sobre o próprio aprendizado; incentivo ao desenvolvimento do raciocínio clínico; aprimoramento da comunicação e das relações interpessoais e integração entre teoria e prática. Evidencia-se que a utilização da ABP favorece a aproximação com as proposições das diretrizes curriculares para a formação do enfermeiro por meio do desenvolvimento de habilidades e competências como autonomia, comunicação, relações interpessoais e raciocínio clínico mediante práticas integrais e contextualizadas. Entretanto, os estudantes enfrentam dificuldades com as mudanças observadas ao serem inseridos nela ABP, as quais são superadas no decorrer do processo de implementação.

Perspectivas de estudantes e egressos sobre a aprendizagem baseada em problemas na formação de enfermeiros / Students' and graduates' perceptions on problem-based learning in nursing undergraduate education

Resumo Objetivou-se analisar a percepção de estudantes e egressos sobre a utilização da Aprendizagem Baseada em Problemas (ABP) na formação do enfermeiro. Trata-se de um estudo qualitativo que utiliza a modalidade compreensiva e interpretativa proposta pela Hermenêutica-Dialética. Realizaram-se quatro grupos focais com a participação de 17 estudantes e 16 egressos de uma instituição de ensino superior que aplica a ABP na formação de enfermeiros. A análise dos resultados permitiu a definição de cinco categorias temáticas: dificuldade de adaptação em relação ao método; conquista de autonomia sobre o próprio aprendizado; incentivo ao desenvolvimento do raciocínio clínico; aprimoramento da comunicação e das relações interpessoais e integração entre teoria e prática. Evidencia-se que a utilização da ABP favorece a aproximação com as proposições das diretrizes curriculares para a formação do enfermeiro por meio do desenvolvimento de habilidades e competências como autonomia, comunicação, relações interpessoais e raciocínio clínico mediante práticas integrais e contextualizadas. Entretanto, os estudantes enfrentam dificuldades com as mudanças observadas ao serem inseridos nela ABP, as quais são superadas no decorrer do processo de implementação.

Abstract This study aimed to analyze students' and graduates' perceptions regarding the use of Problem-Based Learning (PBL) in nurse education. This is a qualitative study that employs the comprehensive and interpretative approach proposed by Dialectical Hermeneutics. Four focus groups were conducted with the participation of 17 students and 16 graduates from a higher education institution that implements PBL in nurse education. The analysis of results allowed for the identification of five thematic categories: difficulty in adapting to the method; attainment of autonomy in one's own learning; encouragement of clinical reasoning development; enhancement of communication and interpersonal relationships; and integration between theory and practice. It is evident that the use of PBL promotes alignment with the propositions of curriculum guidelines for nurse education by fostering the development of skills and competencies such as autonomy, communication, interpersonal relationships, and clinical reasoning through comprehensive and contextualized practices. However, students encounter challenges with the changes observed when introduced to PBL, which are overcome during the implementation process.

Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.

Limb-girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra-rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G/R7 were reviewed from July 2017 to August 2023. Additionally, a systematic literature review was conducted to identify case reports and series of the disease worldwide. Forty-one LGMD2G/R7 cases were described in the Brazilian cohort, being all subjects homozygous for the c.157C>T/(p.Gln53*) variant in TCAP. Survival curves showed that the median disease duration before individuals required walking aids was 21 years. Notably, women exhibited a slower disease progression, requiring walking aids 13 years later than men. LGMD2G/R7 was frequently reported not only in Brazil but also in China and Bulgaria, with 119 cases identified globally, with possible founder effects in the Brazilian, Eastern European, and Asian populations. These findings are pivotal in raising awareness of LGMD2G/R7, understanding its progression, and identifying potential modifiers. This can significantly contribute to the development of future natural history studies and clinical trials for this disease.

Mapping of Repetitive Sequences in Brachyhypopomus brevirostris (Hypopomidae, Gymnotiformes) from the Brazilian Amazon.

Brachyhypopomus (Hypopomidae, Gymnotiformes) is a monophyletic genus consisting of 28 formally described species. Karyotypic data are available for 12 species. The same karyotype is described for two species (B. brevirostris and B. hamiltoni), as well as different karyotypes for the same species from distinct locations (B. brevirostris). In this context, B. brevirostris may constitute a cryptic species complex. Thus, in the present study, we analyzed the karyotype of B. brevirostris, from Santarém, Pará, and Tefé, Amazonas, using classical cytogenetics (conventional staining and C-banding) and molecular techniques (fluorescence in situ hybridization using 18S rDNA, 5S rDNA, U2 snRNA, and telomeric probes). The results show that samples from both locations present 2n = 38, with all chromosomes being acrocentric (FC = 38a). In both populations, 18S rDNA sequences are present on only one pair of homologous chromosomes and telomeric sequences occur only at the ends of the chromosomes. In the Tefé sample, the 5S rDNA occurs in two pairs, and the U2 snRNA in three pairs. These results are the first descriptions of these sequences for B. brevirostris samples from the Tefé locality, as well as the first karyotypic description for the Santarém locality. Future cytotaxonomic studies of this genus can benefit from these results.

Triple-seronegative myasthenia gravis: clinical and epidemiological characteristics.

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease usually caused by antibodies against the acetylcholine receptor (AChR-Abs), muscle-specific tyrosine kinase (MuSK-Abs), or low-density lipoprotein receptor-related protein 4 (LRP4-Abs). However, there are MG patients who do not have these antibodies and are thus said to have triple-seronegative (triple-SN) MG. OBJECTIVE: This study aims to describe the frequency and clinical and epidemiological characteristics of patients with triple-SN MG. METHODS: This was a retrospective cross-sectional study carried out through the analysis of medical records. Descriptive and analytical statistical analysis was performed comparing subgroups of myasthenic patients, classified according to serological profile. RESULTS: The sample population consisted of 93 MG patients: 85 were positive for antibodies, 80 (86%) with AChR-Abs, 5 (5.4%) with MuSK-Abs, and no MG patients with LRP4-Abs. Eight patients (8.6%) had triple-SN MG; they had a median age at disease onset of 30 years (21-45). Their most common initial symptoms were ptosis, diplopia, and generalized weakness. Most patients presented with mild symptoms at their last visit, reflecting a median MG composite scale score of 4 (0-6), and 75% of patients had an adequate response to treatment. CONCLUSION: Our study showed a low frequency of triple-SN MG in Brazilian MG patients. Triple-SN MG was predominant in females, who presented with ptosis, diplopia, and generalized weakness, and most patients had an adequate response to immunosuppressive treatment. There was no significant difference between triple-SN MG and the other subgroups.

ANTECEDENTES: A Miastenia gravis (MG) é uma desordem autoimune geralmente causada por anticorpos antirreceptores de acetilcolina (anti-RACh), tirosina quinase músculo-específica (anti-MuSK) ou proteína 4 relacionada ao receptor de lipoproteína de baixa densidade (anti-LRP4). No entanto, em uma parcela dos pacientes, nenhum destes três anticorpos pôde ser detectado, sendo estes casos denominados "triplo-soronegativos". OBJETIVO: Descrever a frequência, bem como as características clínicas e epidemiológicas dos pacientes com MG triplo-soronegativa. MéTODOS: Consiste em um estudo transversal e restrospectivo, realizado através da análise de prontuários médicos. Foi realizada análise estatística descritiva e analítica entre os subgrupos de pacientes, classificados de acordo com o perfil sorológico. RESULTADOS: A população consistiu de 93 pacientes com MG: 85 pacientes apresentavam positividade para anticorpos, sendo 80 (86%) com anticorpos anti-RACh, cinco (5,4%) com anti-MuSK, e não foram encontrados pacientes com anti-LRP4. Oito (8,6%) eram pacientes triplo-soronegativos, que apresentaram idade média de início da doença de 30 anos (21-45), e com sintomas iniciais mais comuns de ptose, diplopia e fraqueza generalizada. 75% dos pacientes triplo-soronegativos apresentaram resposta adequada ao tratamento. CONCLUSãO: O estudo demonstrou uma baixa frequência da pacientes com MG triplo-soronegativa na população brasileira. A MG triplo-soronegativa foi predominante nas mulheres, que se apresentaram com ptose, diplopia ou fraqueza generalizada, e a maioria dos pacientes apresentou resposta adequada ao tratamento imunossupressor. Não houve diferença significativa entre a MG triplo-soronegativa e os demais subgrupos.

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the CPT2 gene have been described, and pathogenic mechanisms have been better elucidated. Genetic analysis of one of the original cases disclosed compound heterozygous pathogenic variants (p.Ser113Leu/p.Pro50His) in the CPT2 gene. Our report highlights the historical aspects of the first Brazilian publication of the myopathic form of CPT II deficiency and updates the genetic background of this pioneering publication.

Deficiência de carnitina palmitoiltransferase II (CPT II) é uma desordem de herança autossômica recessiva relacionada com o metabolismo do lipídio afetando músculo esquelético. Os primeiros dois casos de deficiência de CPT II causando miopatia foram relatados em 1973. Em 1983, Werneck et al. publicaram os primeiros pacientes brasileiros com miopatia por deficiência de CPT II, nos quais a análise bioquímica confirmou a atividade deficiente da CPT nos músculos em ambos os casos. Após 40 anos desde a publicação pioneira, fenótipos clínicos e loci genético no gene CPT2 foram descritos, bem com os mecanismos patológicos foram melhor elucidados. A análise genética de um dos casos da publicação original apresentou variantes patogênicas em heterozigose composta (p.Ser113Leu/p.Pro50His) no gene CPT2. O nosso relato destaca os aspectos históricos da primeira publicação brasileira da forma miopática da deficiência de CPT II e atualiza as bases genéticas dessa publicação pioneira.

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil / Miopatia por deficiência de carnitina palmitoiltransferase II: atualizando os aspectos genéticos da primeira publicação no Brasil

Abstract Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle of both cases. Over the past 40 years since the pioneering publication, clinical phenotypes and genetic loci in the CPT2 gene have been described, and pathogenic mechanisms have been better elucidated. Genetic analysis of one of the original cases disclosed compound heterozygous pathogenic variants (p.Ser113Leu/p.Pro50His) in the CPT2 gene. Our report highlights the historical aspects of the first Brazilian publication of the myopathic form of CPT II deficiency and updates the genetic background of this pioneering publication.

Resumo Deficiência de carnitina palmitoiltransferase II (CPT II) é uma desordem de herança autossômica recessiva relacionada com o metabolismo do lipídio afetando músculo esquelético. Os primeiros dois casos de deficiência de CPT II causando miopatia foram relatados em 1973. Em 1983, Werneck et al. publicaram os primeiros pacientes brasileiros com miopatia por deficiência de CPT II, nos quais a análise bioquímica confirmou a atividade deficiente da CPT nos músculos em ambos os casos. Após 40 anos desde a publicação pioneira, fenótipos clínicos e loci genético no gene CPT2 foram descritos, bem com os mecanismos patológicos foram melhor elucidados. A análise genética de um dos casos da publicação original apresentou variantes patogênicas em heterozigose composta (p.Ser113Leu/p.Pro50His) no gene CPT2. O nosso relato destaca os aspectos históricos da primeira publicação brasileira da forma miopática da deficiência de CPT II e atualiza as bases genéticas dessa publicação pioneira.

Modelo calgary de avaliação familiar: mulheres em situação de violência e revogação de medidas protetivas / Calgary family assessment model: women in situations of violence and revocation of protective measures / Modelo calgary de evaluación familiar: mujeres en situaciones de violencia y revocación de medidas de protección

RESUMO Objetivo: compreender as fortalezas e fragilidades das famílias de mulheres em situação de violência que revogaram a medida protetiva de urgência. Método: pesquisa descritiva pautada no Modelo Calgary de Avaliação Familiar, no contexto de uma Delegacia da Mulher em um município do interior de São Paulo, Brasil, realizada entre os meses de setembro e novembro de 2021, com quatro famílias de mulheres que revogaram a medida protetiva. A coleta e análise de dados sobre a estrutura, o desenvolvimento e a funcionalidade familiar foram conduzidos segundo o Modelo Calgary. Resultados: as famílias apresentam similaridades que abrangem aspectos socioeconômicos, baixa escolaridade, uso de álcool, relações familiares conflituosas e transgeracionais que, por suas fragilidades, perpetuam o ciclo de violência. Entretanto, os benefícios sociais, o aporte religioso e de familiares se apresentaram como fortalezas. Conclusão: o Modelo Calgary de Avaliação Familiar proporciona direcionamento à enfermagem para propor planos de cuidados consoantes às complexidades da violência doméstica.

ABSTRACT Objective: To understand the strengths and weaknesses of the families of women in situations of violence who have had their emergency protective measures revoked. Method: descriptive research based on the Calgary Family Assessment Model, in the context of a Women's Police Station in a municipality in the interior of São Paulo, Brazil, carried out between September and November 2021, with four families of women who revoked the protective measure. Family structure, development, and functionality data were collected and analyzed according to the Calgary Model. Results: the families have similarities that include socio-economic aspects, low schooling, alcohol use, conflicting family relationships, and transgenerational relationships that, due to their fragility, perpetuate the cycle of violence. However, the social benefits, religious support, and family members were strengths. Conclusion: The Calgary Family Assessment Model guides nurses in proposing care plans consistent with domestic violence's complexities.

RESUMEN Objetivo: Conocer los puntos fuertes y débiles de las familias de las mujeres en situación de violencia a las que se les ha revocado la medida de protección de urgencia. Método: investigación descriptiva basada en el Modelo de Evaluación Familiar de Calgary, en el contexto de una Comisaría de la Mujer de un municipio del interior de São Paulo, Brasil, realizada entre septiembre y noviembre de 2021, con cuatro familias de mujeres a las que se les revocó la medida de protección. Los datos sobre la estructura, el desarrollo y la funcionalidad de la familia se recopilaron y analizaron utilizando el Modelo de Calgary. Resultados: las familias presentan similitudes que incluyen aspectos socioeconómicos, baja escolarización, consumo de alcohol, relaciones familiares conflictivas y relaciones transgeneracionales que, debido a su fragilidad, perpetúan el ciclo de la violencia. Sin embargo, los beneficios sociales, el apoyo religioso y el apoyo de los miembros de la familia fueron puntos fuertes. Conclusión: El modelo de evaluación familiar de Calgary proporciona una guía para que las enfermeras propongan planes de cuidados acordes con las complejidades de la violencia doméstica.

Triple-seronegative myasthenia gravis: clinical and epidemiological characteristics / Miastenia gravis triplo-soronegativa: características clínicas e epidemiológicas

Abstract Background Myasthenia gravis (MG) is an autoimmune disease usually caused by antibodies against the acetylcholine receptor (AChR-Abs), muscle-specific tyrosine kinase (MuSK-Abs), or low-density lipoprotein receptor-related protein 4 (LRP4-Abs). However, there are MG patients who do not have these antibodies and are thus said to have triple-seronegative (triple-SN) MG. Objective This study aims to describe the frequency and clinical and epidemiological characteristics of patients with triple-SN MG. Methods This was a retrospective cross-sectional study carried out through the analysis of medical records. Descriptive and analytical statistical analysis was performed comparing subgroups of myasthenic patients, classified according to serological profile. Results The sample population consisted of 93 MG patients: 85 were positive for antibodies, 80 (86%) with AChR-Abs, 5 (5.4%) with MuSK-Abs, and no MG patients with LRP4-Abs. Eight patients (8.6%) had triple-SN MG; they had a median age at disease onset of 30 years (21-45). Their most common initial symptoms were ptosis, diplopia, and generalized weakness. Most patients presented with mild symptoms at their last visit, reflecting a median MG composite scale score of 4 (0-6), and 75% of patients had an adequate response to treatment. Conclusion Our study showed a low frequency of triple-SN MG in Brazilian MG patients. Triple-SN MG was predominant in females, who presented with ptosis, diplopia, and generalized weakness, and most patients had an adequate response to immunosuppressive treatment. There was no significant difference between triple-SN MG and the other subgroups.

Resumo Antecedentes A Miastenia gravis (MG) é uma desordem autoimune geralmente causada por anticorpos antirreceptores de acetilcolina (anti-RACh), tirosina quinase músculo-específica (anti-MuSK) ou proteína 4 relacionada ao receptor de lipoproteína de baixa densidade (anti-LRP4). No entanto, em uma parcela dos pacientes, nenhum destes três anticorpos pôde ser detectado, sendo estes casos denominados "triplo-soronegativos". Objetivo Descrever a frequência, bem como as características clínicas e epidemiológicas dos pacientes com MG triplo-soronegativa. Métodos Consiste em um estudo transversal e restrospectivo, realizado através da análise de prontuários médicos. Foi realizada análise estatística descritiva e analítica entre os subgrupos de pacientes, classificados de acordo com o perfil sorológico. Resultados A população consistiu de 93 pacientes com MG: 85 pacientes apresentavam positividade para anticorpos, sendo 80 (86%) com anticorpos anti-RACh, cinco (5,4%) com anti-MuSK, e não foram encontrados pacientes com anti-LRP4. Oito (8,6%) eram pacientes triplo-soronegativos, que apresentaram idade média de início da doença de 30 anos (21-45), e com sintomas iniciais mais comuns de ptose, diplopia e fraqueza generalizada. 75% dos pacientes triplo-soronegativos apresentaram resposta adequada ao tratamento. Conclusão O estudo demonstrou uma baixa frequência da pacientes com MG triplo-soronegativa na população brasileira. A MG triplo-soronegativa foi predominante nas mulheres, que se apresentaram com ptose, diplopia ou fraqueza generalizada, e a maioria dos pacientes apresentou resposta adequada ao tratamento imunossupressor. Não houve diferença significativa entre a MG triplo-soronegativa e os demais subgrupos.

Implicações da violência doméstica contra as mulheres na funcionalidade familiar: revisão integrativa / Implicancias de la violencia doméstica contra las mujeres en la funcionalidad familiar: revisión integradora / Implications of domestic violence against women on family functionality: an integrative review

Resumo Objetivo: identificar as implicações da violência doméstica contra as mulheres na funcionalidade familiar. Método: revisão integrativa, realizada nas bases de dados da Literatura Latino-Americana e do Caribe em Ciências da Saúde; Medline US National Library of Medicine; Web of Science; Scopus;e Biomedical and Pharmacological Bibliographic Database. O levantamento bibliográfico ocorreu em janeiro de 2024, identificando 7.684 publicações, sendo 20 artigos selecionados para análise com apoio do softwareNVivo. Resultados: mulheres expostas à violência doméstica enfrentam consequências físicas, emocionais e sociais, frequentemente reproduzindo o ciclo de agressão. Os filhos também sofrem impactos na saúde física, emocional e social, tornando-se propensos a perpetuar o padrão de violência e criando uma condição transgeracional. Conclusão: as implicações da violência doméstica contra as mulheres na funcionalidade familiar são múltiplas, abrangentes e transcendem as gerações. Estes aspectos são essenciais para a implementação de intervenções com foco na segurança familiar.

Resumen Objetivo: identificar las implicancias de la violencia doméstica contra las mujeres en la funcionalidad familiar. Método: revisión integradora realizada en las siguientes bases de datos: Literatura Latino-Americana e do Caribe em Ciências da Saúde; Medline US National Library of Medicine; Web of Science; Scopus;y Biomedical and Pharmacological Bibliographic Database. El sondeo bibliográfico tuvo lugar em enero de 2024, identificándose 7.684 publicaciones, entre los cuales se seleccionaron 20 artículos para el análisis con la ayuda del programa de softwareNVivo. Resultados: las mujeres expuestas a violencia doméstica enfrentan consecuencias físicas, emocionales y sociales, y frecuentemente reproducen el ciclo de agresiones. Los hijos también sufren efectos sobre su salud física, emocional y social, volviéndose propensos a perpetuar el patrón de violencia y creando una condición transgeneracional. Conclusión: las implicancias de la violencia doméstica contra las mujeres em la funcionalidad familiar son múltiples y abarcadoras y trascienden las generaciones. Estos aspectos son esenciales para que puedan implementarse intervenciones enfocadas en la seguridad familiar.

Abstract Objective: to identify the implications of domestic violence against women on family functionality. Method: an integrative review carried out in the following databases: Literatura Latino-Americana e do Caribe em Ciências da Saúde; Medline US National Library of Medicine; Web of Science; Scopus; and Biomedical and Pharmacological Bibliographic Database. The bibliographic survey took place in January 2024, identifying 7,684 publications, with 20 articles selected for analysis with the support of the NVivo software. Results: women exposed to domestic violence face physical, emotional and social consequences, frequently replicating the aggression cycle. Children also suffer impacts on their physical, emotional and social health, becoming prone to perpetuating the pattern of violence and creating a trans-generational condition. Conclusion: the implications of domestic violence against women on family functionality are multiple and comprehensive and transcend generations. These aspects are essential for the implementation of interventions focused on family security.

Domestic violence against women: experiences of primary health care professionals / Violencia doméstica contra las mujeres: experiencia de los profesionales de la atención primaria de la salud / Violência doméstica contra as mulheres: vivências dos profissionais da atenção primária a saúde

ABSTRACT Objective: to analyze how Primary Health Care professionals experience domestic violence against women. Method: qualitative research, conducted from January to June 2023, through interviews with 20 Primary Health Care professionals, in a medium-sized municipality in the state of São Paulo, Brazil. The data obtained were interpreted using the Content Analysis Technique, thematic modality. Results: professionals emphasize the need for a sensitive approach and early identification, expressing feelings of perplexity and powerlessness during care. The impacts of violence are perceived by the victims, families, and society, causing physical, psychological, and social consequences. Challenges include lack of training, fear of reprisals, and lack of institutional support. The limitations faced by women in confronting violence are linked to lack of information, financial and emotional dependence, generating fear and insecurity. Conclusion: professionals experience the complexity of providing health care to women who are victims of domestic violence, and it is inferred that investments in professional training, institutional protection, and the creation of spaces that can support women are necessary to prevent re-victimization.

RESUMEN Objetivo: analizar cómo los profesionales de Atención Primaria de Salud viven la violencia doméstica contra las mujeres. Método: investigación cualitativa, desarrollada de enero a junio de 2023, a través de entrevistas a 20 profesionales de la Atención Primaria de Salud, en un Municipio Mediano del interior de São Paulo. Los datos obtenidos fueron interpretados mediante la Técnica de Análisis de Contenido, modalidad temática. Resultados: los profesionales enfatizan la necesidad de abordaje sensible e identificación temprana, expresando sentimientos de perplejidad e impotencia durante la prestación de cuidados. Los impactos de la violencia son percibidos por las víctimas, los familiares y la sociedad y provocan consecuencias físicas, psicológicas y sociales. Los desafíos incluyen la falta de capacitación, el miedo a represalias y la falta de apoyo institucional. Las limitaciones que afrontan las mujeres quando se enfrentan con la violencia están vinculadas a la falta de información y a la dependencia financiera y emocional, lo que genera miedo e inseguridad. Conclusión: los profesionales experimentan la complejidad que representa la atención de la salud para las mujeres víctimas de violencia doméstica advirtiéndose la necesidad de inversiones en formación profesional, protección institucional y creación de espacios que puedan acoger a las mujeres y evitar la revictimización.

RESUMO Objetivo: analisar como os profissionais da Atenção Primária à Saúde vivenciam a violência doméstica contra as mulheres. Método: pesquisa Qualitativa, desenvolvida no período de janeiro a junho de 2023, por meio de entrevistas com 20 profissionais da Atenção Primária à Saúde, em um Município de Médio Porte do Interior Paulista. Os dados obtidos foram interpretados pela Técnica de Análise de Conteúdo, modalidade temática. Resultados: os profissionais enfatizam a necessidade de abordagem sensível e identificação precoce, expressando sentimentos de perplexidade e impotência durante o atendimento. Os impactos da violência são percebidos pelas vítimas, famílias e sociedade, causando consequências físicas, psicológicas e sociais. Os desafios incluem falta de capacitação, medo de represálias e carência de apoio institucional. As limitações enfrentadas pelas mulheres no confronto com a violência estão ligadas à falta de informação, dependência financeira e emocional, gerando medo e insegurança. Conclusão: os profissionais vivenciam a complexidade que representa o cuidado em saúde às mulheres vítimas de violência doméstica e, depreende-se que são necessários investimentos na capacitação dos profissionais, proteção institucional e criação de espaços, que possam acolher as mulheres, evitando assim a revitimização.

Análise da situação sanitária dos serviços de saúde no estado de Minas Gerais / Analysis of the health situation of health services in the state of Minas Gerais

Os serviços de saúde avançaram nas últimas décadas com relação aos requisitos de qualidade e segurança. Por serem considerados de grande relevância pública, torna-se necessário conhecer e traçar o panorama dos riscos sanitários identificados em serviços de saúde que impactam a situação de saúde em âmbito territorial. O presente estudo teve como objetivo geral analisar a situação sanitária dos serviços de saúde localizados no estado de Minas Gerais no período de 2020 a 2022. Foi desenvolvido estudo transversal, descritivo e analítico, de abordagem quantitativa, utilizando-se dados secundários armazenados pela Secretaria de Estado de Saúde de Minas Gerais (SES-MG) por meio do instrumento de notificação de risco ­ Vigi-Risco da área de serviços de saúde e indicadores de acesso público. A análise comparativa dos dados foi realizada por meio do Teste qui quadrado a um nível de significância de 5% para verificar a existência de associação entre a variável dependente risco sanitário e as variáveis: natureza do estabelecimento, porte populacional, Índice de Desenvolvimento Humano Municipal, Produto Interno Bruto e Índice Mineiro de Responsabilidade Social - dimensão saúde. Foi utilizado o coeficiente phi para verificar a intensidade da associação entre as variáveis. Os resultados demonstraram que do total de n=102.733 notificações em serviços de saúde no período analisado, 13.353 (13%) foram considerados como estabelecimentos que podem gerar risco à saúde; as não conformidades mais comumente encontradas foram nas áreas de documentação/ garantia da qualidade (n=48.337; 35,47%) e estrutura física (n=27.370; 20,09%); os fatos geradores de inspeção mais frequentes foram solicitação de renovação de alvará sanitário (n=52.190; 47,79%) e interesse da vigilância sanitária (n=28.136; 25,77%); e as ações mais relevantes adotadas pelo poder público foram orientação (n=58.115; 58,94%) e notificação (n=38.546; 39,09%). Na distribuição espacial, o risco sanitário está majoritariamente concentrado nas Macrorregiões de Saúde Centro e Triângulo Norte (>20%) e de forma menos relevante na Macrorregião Leste do Sul (<5%). O estudo demonstrou, com nível de confiança de 95%, que existe associação (fraca) entre o risco sanitário e as variáveis analisadas (p<0,05), exceto para a variável porte populacional, em que não foi observada associação estatisticamente significativa entre municípios de pequeno porte e risco sanitário. Conclui-se que a maioria dos serviços de saúde inspecionados seguiu os padrões sanitários legalmente previstos. Portanto, a situação sanitária de Minas Gerais, em geral, é positiva no período analisado, tendo em vista a identificação de baixo percentual de serviços de saúde que podem gerar risco à saúde da população. A pesquisa é de alta relevância acadêmica, pois, a literatura ainda carece de pesquisas acerca da situação sanitária nos serviços de saúde no Brasil. O objeto de pesquisa representa um importante campo analítico da Política Nacional de Vigilância em Saúde no âmbito do Sistema Único de Saúde. Como produto técnico, será entregue à SES-MG um painel de dados técnicos ilustrados por meio do software Power BI.

Health services have advanced in recent decades in terms of quality and safety requirements. As they are considered to be of great public relevance, it is necessary to know and outline the panorama of health risks identified in health services that impact the health situation at a territorial level. The present study had the general objective of analyzing the health situation of health services located in the state of Minas Gerais from 2020 to 2022. A cross-sectional, descriptive and analytical study was developed, with a quantitative approach, using secondary data stored by the Minas Gerais State Department of Health (SES-MG) through the risk notification instrument - Vigi-Risco in the area of health services and public access indicators. The comparative analysis of the data was performed using the chi-square test at a significance level of 5% to verify the existence of an association between the dependent variable health risk and the variables: nature of the establishment, population size, Municipal Human Development Index, Gross Domestic Product and Minas Gerais Social Responsibility Index - health dimension. The phi coefficient was used to verify the intensity of the association between the variables. The results showed that of the total of n=102,733 notifications in health services in the period analyzed, 13,353 (13%) were considered as establishments that could generate health risks; the most commonly found nonconformities were in the areas of documentation/quality assurance (n=48,337; 35.47%) and physical structure (n=27,370; 20.09%); the most frequent facts generating inspection were requests for renewal of health licenses (n=52,190; 47.79%) and interest of health surveillance (n=28,136; 25.77%); and the most relevant actions adopted by the government were guidance (n=58,115; 58.94%) and notification (n=38,546; 39.09%). In spatial distribution, the health risk is mostly concentrated in the Central and Northern Triangle Health Macroregions (>20%) and less relevantly in the Eastern South Macroregion (<5%). The study demonstrated, with a 95% confidence level, that there is a (weak) association between the health risk and the variables analyzed (p<0.05), except for the population size variable, in which no statistically significant association was observed between small municipalities and health risk. It is concluded that the majority of the inspected health services followed the legally established health standards. Therefore, the health situation in Minas Gerais, in general, is positive in the period analyzed, considering the identification of a low percentage of health services that can generate risk to the health of the population. The research is of high academic relevance, since the literature still lacks research on the health situation in health services in Brazil. The research object represents an important analytical field of the National Health Surveillance Policy within the scope of the Unified Health System. As a technical product, a technical data panel illustrated by means of the Power BI software will be delivered to SES-MG.

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.

Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3-R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG, and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort.

A distrofia muscular de cinturas (DMC) é um grupo de miopatias que leva à fraqueza muscular progressiva, e envolvendo predominante as cinturas escapular e pélvica. A DMCtem uma etiologia genética heterogênea, com variação na prevalência de subtipos de acordo com as origens étnicas e geográficas das populações. O objetivo deste estudo foi analisar uma série de pacientes com DMC do tipo autossômico recessivo (DMC-R) para contribuir para uma melhor caracterização da doença e encontrar a proporção relativa dos diferentes subtipos em uma coorte do Sul do Brasil. A população amostral foi composta por 36 pacientes com DMC-R. O painel de sequenciamento de nova geração com 9 genes revelou variantes em 23 pacientes com DMC (64%), e identificou calpainopatia (DMC-R1) em 26%, disferlinopatia (DMC-R2) em 26%, sarcoglicanopatias (DMC-R3­R5) em 13%, teletoninopatia (D-MCR7) em 18%, distroglicanopatia (D-MCR9) em 13%, e anoctaminopatia (DMC-R12) em 4% dos pacientes. Nesses 23 pacientes com DMC, havia 27 variantes diferentes nos genes ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG e TCAP. Foram encontradas diferentes variantes em diferentes éxons desses genes, com exceção do gene TCAP, para o qual todos os pacientes eram portadores da variante p.Gln53*, e do gene FKRP, que apresentou recorrência da variante p.Leu276Ile. As características fenotípicas, genotípicas e imuno-histoquímicas musculares desta coorte do Sul do Brasil foram analisadas.

Testosterone deficiency impairs cardiac interfibrillar mitochondrial function and myocardial contractility while inducing oxidative stress.

Introduction: Clinical studies have shown that low levels of endogenous testosterone are associated with cardiovascular diseases. Considering the intimate connection between oxidative metabolism and myocardial contractility, we determined the effects of testosterone deficiency on the two spatially distinct subpopulations of cardiac mitochondria, subsarcolemmal (SSM) and interfibrillar (IFM). Methods: We assessed cardiac function and cardiac mitochondria structure of SSM and IFM after 12 weeks of testosterone deficiency in male Wistar rats. Results and Discussion: Results show that low testosterone reduced myocardial contractility. Orchidectomy increased total left ventricular mitochondrial protein in the SSM, but not in IFM. The membrane potential, size and internal complexity in the IFM after orchidectomy were higher compared to the SHAM group. However, the rate of oxidative phosphorylation with all substrates in the IFM after orchidectomy was lower compared to the SHAM group. Testosterone replacement restored these changes. In the testosterone-deficient SSM group, oxidative phosphorylation was decreased with palmitoyl-L-carnitine as substrate; however, the mitochondrial calcium retention capacity in IFM was increased. There was no difference in swelling of the mitochondria in either group. These changes in IFM were followed by a reduction in phosphorylated form of AMP-activated protein kinase (p-AMPK-α), peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α) translocation to mitochondria and decreased mitochondrial transcription factor A (TFAM). Testosterone deficiency increased NADPH oxidase (NOX), angiotensin converting enzyme (ACE) protein expression and reduced mitochondrial antioxidant proteins such as manganese superoxide dismutase (Mn-SOD) and catalase in the IFM. Treatment with apocynin (1.5 mM in drinking water) normalized myocardial contractility and interfibrillar mitochondrial function in the testosterone depleted animals. In conclusion, our findings demonstrate that testosterone deficiency leads to reduced myocardial contractility and impaired cardiac interfibrillar mitochondrial function. Our data suggest the involvement of reactive oxygen species, with a possibility of NOX as an enzymatic source.

Effects of solvent vapor annealing on the optical properties and surface adhesion of conjugated D : A thin films.

A diketopyrrolopyrrole (DPP) and perylene diimide (PDI)-based molecule, denoted as PDI-DPP-PDI, was investigated as an electron acceptor material in bulk heterojunction (BHJ) solar cells, with poly[[4,8-bis [5-(2-ethylhexyl)-2-thienyl]benzo[1,2-b:4,5-b']dithiophene-2,6-diyl] [2-(2-ethyl-1-oxohexyl)thieno[3,4-b]thiophenediyl]] (PBDTTT-CT) as an electron donor. The donor polymer and the acceptor molecule have complementary absorption spectra, which is an essential feature for energy collection in organic solar cells. However, AFM images indicated the presence of isolated and microsized PDI-DPP-PDI domains along the surface of the films, which reduced the power conversion efficiency. Therefore, to improve the homogenization of the acceptor along the film, a post-deposition treatment, denoted as solvent vapor annealing (SVA), was performed in a saturated atmosphere containing the vapour of an organic solvent for 3-10 minutes. This procedure changed the optical and morphological properties of the PBDTTT-CT : PDI-DPP-PDI active layer, resulting in increased power conversion efficiency values by more than 2.5 times (reaching 5.1%). Theoretical simulation pointed out that the experimental absorbance band localized at 580 nm, which appeared after SVA treatment, is possibly related to an intense simulated band with a maximum at 572 nm, resulting from a pair of transitions starting in the copolymer and ending in PDI-DPP-PDI, in regions where both are stacked at about 3 Å. The most significant natural transition orbitals (NTOs) related to these transitions indicated charge transfer character. Moreover, analyses carried out by power spectrum density (PDS) of images acquired from the SVA-treated film indicated that in the region of larger frequencies, across the length scale at around 30-70 nm, an additional fractal region appeared with a Ds of 0.95, indicating a flattened region, possibly related to changes in the overall conformation after SVA treatment. This indicates an improvement in the molecular packing, a feature not observed in the as-cast film. The analyses by force curve spectroscopy pointed out increased adhesion forces and adhesion energy in the PBDTTT-CT : PDI-DPP-PDI film after SVA treatment; this feature enhanced the interfacial interaction with the top electrodes, reflecting improved charge extraction in the photovoltaic device.

The dopaminergic D1 receptor modulates the hyperactivity of Bapa mutant mice.

The mutant bate-palmas ("claps"; symbol - bapa) mice induced by the mutagenic chemical ENU present motor incoordination and postural alterations. A previous study showed that bapa mice present increased motor/exploratory behaviors during the prepubertal period due to increased striatal tyrosine hydroxylase expression, suggesting striatal dopaminergic system hyperactivity. This study aimed to evaluate the involvement of striatal dopaminergic receptors in the hyperactivity of bapa mice. Male bapa mice and their wild strain (WT) were used. Spontaneous motor behavior was observed in the open-field test, and stereotypy was evaluated after apomorphine administration. The effects of DR1 and DR2 dopaminergic antagonists (SCH-23,390; sulpiride) and the striatal DR1 and D2 receptor gene expression were evaluated. Relative to WT, bapa mice showed: 1) increased general activity for four days; 2) increased rearing and sniffing behavior and decreased immobility after apomorphine; 3) blockage of rearing behavior after the DR2 antagonist but no effect after DR1 antagonist; 4) blockage of sniffing behavior after the DR1 antagonist in bapa and WT mice but no effect after the DR2 antagonist; 5) increased immobility after the DR1 antagonist but no effect after the DR2 antagonist; 6) increased expression of striatal DR1 receptor gene and reduced the DR2 expression gene after apomorphine administration. Bapa mice showed increased activity in open field behavior. The increased rearing behavior induced by apomorphine of bapa mice resulted from the increased gene expression of the DR1 receptor.

Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.

We report a patient with early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) who developed a distinct phenotype, with tongue fasciculation and atrophy, due to a mutation at serine 331 in the SPTLC1 gene. HSAN-1A manifestation causing tongue fasciculation and atrophy have been rarely found. Our report adds to the growing evidence of the existence of an overlap between hereditary neuropathy and motor neuron disease caused by pathogenic p.S331Y variant in SPTLC1 gene.

Instrumentos de avaliação do ajuste psicossocial à amputação, uso e satisfação com a prótese: uma revisão sistemática da literatura / Instruments for evaluation of psychosocial adjustment to amputation, use and satisfaction with the prosthesis: a systematic review of literature

O ajuste à amputação envolve tanto questões físicas quanto psicossociais e a satisfação com o membro artificial. Objetivo: Revisar sistematicamente a literatura acerca dos instrumentos que avaliam o ajuste psicossocial à amputação e uso da prótese e a satisfação com a prótese em pessoas com amputação de membro inferior. Métodos: Fonte de dados: Medline via Pubmed, Web of Science e Scopus. Critérios de elegibilidade: estudos originais que utilizaram questionários para avaliar o ajustamento psicossocial a amputação e uso da prótese e a satisfação com a prótese. Participantes: pessoas com amputação de membro inferior. Métodos de avaliação e síntese dos estudos: todas as análises foram realizadas por três avaliadores, de forma independente, sendo os resultados apresentados de forma descritiva, em tabelas. Resultados: Foram encontrados 239 artigos na busca inicial, sendo incluídos 12 artigos ao final da revisão. Nestes, foram identificados 14 questionários que avaliam o ajuste psicossocial e a satisfação com a prótese, porém, somente 5 são validados especificamente para a população amputada. Conclusão: A Trinity Amputation and Prosthesis Experience Scale (TAPES) e o Prosthesis Evaluation Questionnaire (PEQ) são os instrumentos mais utilizados, sendo sempre importante uma seleção criteriosa dos instrumentos a serem utilizados nas pesquisas e intervenções a fim de se obter dados válidos, confiáveis e comparáveis. Número de registro da revisão sistemática: CRD42019097279

The adjustment to amputation involves physical and psychosocial issues and the satisfaction with the artificial limb. Objective: To systematically review the literature about the instruments that assess psychosocial adjustment to amputation and use of the prosthesis and satisfaction with the prosthesis in people with lower limb amputation. Methods: Data sources: Medline via Pubmed, Web of Science and Scopus. Study eligibility criteria: Original studies that using questionnaires to evaluated the psychosocial adjustment to amputation and prosthesis use and about prosthesis satisfaction. Participants: people with lower limb amputation. Study appraisal and synthesis methods: all analyzes were performed independently by three evaluators, and the results were presented descriptively, in tables. Results: Were found 239 articles in the initial search, with 12 articles included at the end of the review. In these, 16 questionnaires were identified that assess the psychosocial adjustment and satisfaction with the prosthesis, however, only five are validated specifically for the amputated population. Conclusion: The Trinity Amputation and Prosthesis Experience Scale (TAPES) and the Prosthesis Evaluation Questionnaire (PEQ) are the most used instruments, being always important to carefully select the instruments to be used in research and interventions in order to obtain valid, reliable and comparable data. Systematic review registration number: CRD42019097279

Origem e destinação da fauna silvestre: levantamento de dados no estado de Sergipe / Origin and destination of wildlife: survey data in the state of Sergipe

A biodiversidade da Região Nordeste Brasileira encontra-se ameaçada pela ação humana devido a atividades como o desmatamento e a retirada de espécies silvestres do seu ambiente de origem. Assim, objetiva-se, com esta pesquisa, realizar um levantamento descritivo acerca das ações de recebimento e destinação dos animais silvestres realizadas pelo Instituto Brasileiro do Meio Ambiente e dos Recursos Naturais Renováveis (IBAMA) no estado de Sergipe. Para isso, foram utilizados os dados provenientes dos registros de captura realizados pelo IBAMA/SE entre os anos de 2016 e 2020. Os animais que compunham esse banco de dados foram classificados conforme sua classe taxonômica, sendo: aves, répteis ou mamíferos. A origem dos animais que chegaram ao IBAMA foi subdividida da seguinte forma: oriundos de apreensão, de resgate ou de entrega voluntária. Já a destinação desses animais foi classificada como: óbito, soltura, cativeiro ou outros (quando não se enquadravam nas classes anteriores). Foi elaborado um banco de dados utilizando o software Excel®, e os dados foram analisados de maneira descritiva. Dos 5.247 indivíduos apreendidos ao longo do período estudado, a maior parte pertencia à classe das aves (81,9%), seguida pela dos répteis (16,4%) e dos mamíferos (1,7%). A apreensão foi a origem mais comum dos animais recebidos pelo IBAMA/SE em todos os anos avaliados; em segundo e terceiro lugar estão a entrega voluntária e o resgate, respectivamente. Para todas as classes taxonômicas, a principal destinação dos animais foi a soltura, enquanto o envio para cativeiros foi a alternativa menos frequente em todos os anos.

The biodiversity of the Brazilian Northeast region is threatened by human action due to activities such as deforestation and the removal of wild species from their original environment. Thus, this research aims to carry out a descriptive survey about the actions of reception and destination of wild animals performed by the Environment and Renewable Natural Resources Brazilian Institute Environment and Renewable Natural Resources (IBAMA) in the State of Sergipe. For this, data from capture records carried out by IBAMA/SE between 2016 and 2020 were used. The animals that made up this database were classified according to their taxonomic class, being, Birds, Reptiles, or Mammals. The origin of animals that arrived at IBAMA was subdivided as follows: from seizure, rescue, or voluntary delivery. The destination of these animals was classified as: death, release, captivity, or others (when they did not fit into the previous classes). A database was created using Excel® software, and the data were analyzed descriptively. Of the 5247 individuals apprehended over the period studied, most belonged to the bird class (81.9%), followed by reptiles (16.4%) and mammals (1.7%). Seizure was the most common origin of animals received by IBAMA/SE in all evaluated years, in second and third place are voluntary delivery and rescue, respectively. For all taxonomic classes, the main destination of the animals was release, while sending to captivity was the least frequent alternative in all years.