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.

Histopathological and Ultrastructural Study of a Canine Langerhans Cell Tumour (Canine Cutaneous Histiocytoma).

Canine cutaneous histiocytoma (CCH) represents a significant proportion of dog skin tumours, often manifesting as the most common neoplastic skin condition in young animals. Predominantly affecting dogs under four, these tumours appear primarily as solitary lesions that may regress spontaneously. This study, conducted over five years at the University of Trás-os-Montes e Alto Douro, involved a detailed histopathological and ultrastructural examination of 93 CCH cases. Histologically, these tumours showed distinct patterns of lymphoid infiltration, which contributed to their classification into four groups based on the inflammatory response and histological architecture. Most tumours displayed signs of epidermal invasion and frequent mitotic figures, with necrosis present in over half of the cases. Ultrastructurally, the neoplastic cells were characterised by pleomorphism, abundant organelles, and adherens-type junctions. This study offers significant insights into the pathophysiology and morphological characteristics of CCH, underscoring the importance of detailed histological and ultrastructural analysis in accurately diagnosing and understanding this common canine tumour.

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.

Pandemic policies and sleeping problems in older adults.

Sleep quality is fundamental to physical and mental health. Recent research shows that the COVID-19 pandemic has affected individuals' sleep quality. This study aims to investigate whether the containment and health policies (Oxford Coronavirus Government Response Tracker indexes) adopted by European countries and Israel during the pandemic are related to sleep problems in people aged 50 and over. A cross-sectional study was conducted using a logistic regression analysis based on data from the Survey of Health, Ageing and Retirement in Europe, collected in 27 European countries and Israel, in 2021. The results show that containment and health policies affect older adults' sleep, once we neutralise the influence of the sociodemographic, economic, and health characteristics of the individuals and close contact with COVID-19. In fact, the more containment and health policies, the fewer chances of sleep problems. A possible explanation for this is that these policies give people over 50 a sense of safety and security in relation to COVID-19, which may reduce sleep problems.

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.

Novel cold and thermally pasteurized cardoon-enriched functional smoothie formulations: A zero-waste manufacturing approach.

This study investigated the potential of incorporating cardoon (Cynara cardunculus L.) blades as bioactive and dietary fiber ingredients in vegetable/fruit-based smoothies, within a zero-waste approach. The smoothie formulations were pasteurized by high-pressure (550 MPa for 3 min, HPP) and thermal (90 °C for 30 s, TP) treatments and stored at 4 °C for 50 days. Cardoon-fortified smoothies exhibited higher viscosity, darker color, increased phenolic compound levels, and greater anti-inflammatory and antioxidant activities. Furthermore, the cardoon blade ingredients contributed to a more stable dietary fiber content throughout the smoothies' shelf-life. HPP-processed smoothies did not contain sucrose, suggesting enzymatic activity that resulted in sucrose hydrolysis. All beverage formulations had low or no microbial growth within European limits. In conclusion, the fortification of smoothies with cardoon blades enhanced bioactive properties and quality attributes during their shelf-life, highlighting the potential of this plant material as a potential functional food ingredient in a circular economy context.

A multicentre neonatal manikin study showed a large heterogeneity in tactile stimulation for apnoea of prematurity.

AIM: Apnoea of prematurity requires prompt intervention to prevent long-term adverse outcomes, but specific recommendations about the stimulation approach are lacking. Our study investigated the modalities of tactile stimulation for apnoea of prematurity in different settings. METHODS: In this multi-country observational prospective study, nurses and physicians of the neonatal intensive care units were asked to perform a tactile stimulation on a preterm neonatal manikin simulating an apnoea. Features of the stimulation (body location and hand movements) and source of learning (training course or clinical practice) were collected. RESULTS: Overall, 112 healthcare providers from five hospitals participated in the study. During the stimulation, the most frequent location were feet (72%) and back (61%), while the most frequent techniques were rubbing (64%) and massaging (43%). Stimulation modalities different among participants according to their hospitals and their source of learning of the stimulation procedures. CONCLUSION: There was a large heterogeneity in stimulation approaches adopted by healthcare providers to counteract apnoea in a simulated preterm infant. This finding may be partially explained by the lack of specific guidelines and was influenced by the source of learning for tactile stimulation.

Association between formal social participation and cognitive function in middle-aged and older adults: a longitudinal study using SHARE data.

Formal social participation significantly impacts health and well-being, potentially mitigating cognitive decline, although not consistently across all studies. Existing research often focuses solely on baseline participation levels, and age-related differences have primarily been explored among the Asian population. Therefore, this longitudinal study aims to assess the association between formal social participation and cognition across different age groups in individuals aged 50+ living in Europe and Israel, while capturing the dynamic nature of formal social participation. We use data from three waves (four, six, and eight) of the Survey of Health, Ageing, and Retirement in Europe (SHARE), comprising 85,601 respondents. Linear mixed-effects models were applied. The results show that participation in formal social activities mitigates cognitive decline in middle-aged and older adults, especially among those aged 70 to 79 and 80+. These findings support the need for social policies promoting formal social activities, for lasting cognitive health benefits.

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.

Assessment of Tumor-Associated Tissue Eosinophilia (TATE) and Tumor-Associated Macrophages (TAMs) in Canine Transitional Cell Carcinoma of the Urinary Bladder.

Transitional cell carcinoma of the urinary bladder is a significant neoplasm in dogs, characterized by a poor prognosis and a high metastatic potential. These canine spontaneous tumors share many characteristics with human transitional cell carcinoma, making them an excellent comparative model. The role of inflammatory infiltration in tumor development and progression is frequently contradictory, especially concerning tumor-associated tissue eosinophils (TATE) and tumor-associated macrophages (TAMs). This study aims to analyze TATE and TAMs in canine transitional cell carcinoma of the urinary bladder. Congo Red staining was used to identify TATE, and immunohistochemistry was performed to detect TAMs in 34 cases of canine transitional cell carcinoma of the bladder carcinomas, categorized into low and high grades. Statistically significant differences were observed between the number of eosinophils and macrophages in the two groups of tumors. The number of TATE was higher in low-grade malignant tumors, but the number of TAMs was higher in high-grade tumors. Our findings suggest the importance of TATEs and TAMs in the aggressiveness of canine transitional cell carcinoma and propose their potential use as therapeutic targets.

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.

Unravelling the effect of control agents on Gnomoniopsis smithogilvyi on a chestnut-based medium by proteomics.

BACKGROUND: Gnomoniopsis smithogilvyi is the major chestnut pathogen, responsible for economic losses and recently described as a 3-nitropropionic acid and diplodiatoxin mycotoxin producer. Bacillus amyloliquefaciens QST 713 (Serenade® ASO), B. amyloliquefaciens CIMO-BCA1, and the fungicide Horizon® (tebuconazole) have been shown to reduce the growth of G. smithogilvyi. However, they enhanced mycotoxin production. Proteomics can clarify the mould's physiology and the impact of antifungal agents on the mould's metabolism. Thus, the aim of this study was to assess the impact of Horizon®, Serenade®, and B. amyloliquefaciens CIMO-BCA1 in the proteome of G. smithogilvyi to unveil their modes of action and decipher why the mould responds by increasing the mycotoxin production. For this, the mycelium close to the inhibition zone provoked by antifungals was macroscopically and microscopically observed. Proteins were extracted and analysed using a Q-Exactive plus Orbitrap. RESULTS: The results did not elucidate specific proteins involved in the mycotoxin biosynthesis, but these agents provoked different kinds of stress on the mould, mainly affecting the cell wall structures and antioxidant response, which points to the mycotoxins overproduction as a defence mechanism. The biocontrol agent CIMO-BCA1 acts similar to tebuconazole. The results revealed different responses on the mould's metabolism when co-cultured with the two B. amyloliquefaciens, showing different modes of action of each bacterium, which opens the possibility of combining both biocontrol strategies. CONCLUSION: These results unveil different modes of action of the treatments that could help to reduce the use of toxic chemicals to combat plant pathogens worldwide. © 2023 Society of Chemical Industry.

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.

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.

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.

Comparing Prognosis for BRCA1, BRCA2, and Non-BRCA Breast Cancer.

BACKGROUND: Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. Previous studies, mostly including higher numbers of BRCA1 BC patients, yielded conflicting results regarding BRCA1/2 BC outcomes. In the Portuguese population, BRCA2 BC is diagnosed more frequently than BRCA1 BC. We aimed to compare clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 mutations and a control group without germline PV (BRCA-wt). Furthermore, we explored the frequency and outcomes of risk-reducing surgeries in BRCA-mutated patients. METHODS: Prospective follow-up was proposed for patients with a diagnosed BRCA1/2 PV. For this study, a matched control group (by age at diagnosis, by decade, and by stage at diagnosis) included BC patients without germline PV. We compared overall survival (OS) and invasive disease-free survival (iDFS) within the three groups, and the use of risk-reducing surgeries among the BRCA cohort. RESULTS: For a mean follow-up time of 113.0 months, BRCA-wt patients showed longer time to recurrence (p = 0.002) and longer OS (p < 0.001). Among patients with BRCA mutations, no statistical differences were found, although patients with BRCA2 BC had longer iDFS and OS. Uptake of risk-reducing surgeries (contralateral prophylactic mastectomy and salpingo-oophorectomy) were negative predictors of invasive disease and death, respectively. CONCLUSIONS: Testing positive for a BRCA PV is associated with a higher risk of relapse and death in patients with BC in the Portuguese population. Risk-reducing mastectomy and salpingo-oophorectomy were associated with lower incidence of relapse and longer median iDFS and OS, respectively.

Plant extracts as biocontrol agents against Aspergillus carbonarius growth and ochratoxin A production in grapes.

Aspergillus carbonarius (Bainier) Thom. is an important pathogen and ochratoxin A (OTA) producer in grapes that can be controlled by adopting sustainable approaches. Here we evaluate the application of natural plant extracts as an alternative to synthetic fungicides to reduce OTA contamination and to prevent infection of grapes by two isolates of A. carbonarius. In a preliminary screening, natural extracts of chestnut flower, cistus, eucalyptus, fennel, and orange peel were evaluated for their antifungal and anti-mycotoxigenic efficiency in a grape-based medium at concentrations of 10 and 20 mg/mL. Cistus and orange peel extracts demonstrated the best antifungal activity at both concentrations. Although the eucalyptus extract demonstrated no significant effect on Aspergillus vegetative growth, it significantly reduced OTA by up to 85.75 % at 10 mg/mL compared to the control. Chestnut flower, cistus, eucalyptus, and orange peel extracts were then tested at the lowest concentration (10 mg/mL) for their antifungal activity in artificially inoculated grape berries. The cistus and orange peel extracts demonstrated the greatest antifungal activity and significantly reduced mold symptoms in grapes. Moreover, all tested natural extracts were able to reduce OTA content in grape berries (17.7 ± 8.3 % - 82.3 ± 3.85 % inhibition), although not always significantly. Eucalyptus extract was particularly efficient, inhibiting OTA production by both strains of A. carbonarius by up to >80 % with no effects on fungal growth. The use of natural eucalyptus extract represents a feasible strategy to reduce OTA formation without disrupting fungal growth, apparently maintaining the natural microbial balance, while cistus and orange peel extracts appear promising as inhibitors of A. carbonarius mycelial growth. Our findings suggest that plant extracts may be useful sources of bioactive chemicals for preventing A. carbonarius contamination and OTA production. Nonetheless, it will be necessary to evaluate their effect on the organoleptic properties of the grapes.