Abstract Dent disease is a rare X-linked progressive renal disease characterized by hypercalciuria and low molecular weight proteinuria. In early childhood, patients may manifest only proteinuria and/or hypercalciuria, both of which are generally asymptomatic. The authors report three cases of male patients with asymptomatic, non-orthostatic nephrotic proteinuria first detected during screening for an acute condition. All had intermittent hypercalciuria, one had nephrocalcinosis, and one had mild hypotonia and some learning difficulties. Genetic testing identified pathogenic variants in all patients, two in the OCRL gene and one in the CLCN5 gene. To date, none have developed chronic kidney disease. The diagnosis of Dent disease can be challenging, but it should be considered in all men with unexplained proteinuria. This approach may not only allow for earlier diagnosis, but also avoid unnecessary testing and potentially harmful treatments. Xlinked X linked childhood andor or asymptomatic nonorthostatic non orthostatic condition nephrocalcinosis difficulties CLCN date challenging treatments

Resumo A doença de Dent é uma tubulopatia rara e progressiva ligada ao cromossoma X, caracterizada por hipercalciúria e proteinúria de baixo peso molecular. Na primeira década, os doentes manifestam apenas proteinúria e/ou hipercalciúria, sendo ambas geralmente assintomáticas. Posteriormente, os sintomas podem evoluir para insuficiência renal crónica. São apresentados três casos de crianças do sexo masculino com proteinúria nefrótica não ortostática assintomática detetada em contexto de doença aguda. Todas as crianças apresentaram hipercalciúria intermitente, uma apresentou nefrocalcinose e outra hipotonia ligeira e dificuldades de aprendizagem. O estudo genético identificou variantes patogénicas em todos os doentes, duas no gene OCRL e uma no gene CLCN5. Nenhum doente apresentou deterioração da função renal. O diagnóstico de doença de Dent pode ser desafiante, devendo ser considerado em casos de proteinúria inexplicável no género masculino. Esta abordagem permitirá, não só antecipar o diagnóstico, como evitar investigação e tratamentos desnecessários. X molecular década eou ou assintomáticas Posteriormente crónica aguda intermitente aprendizagem CLCN5 CLCN desafiante permitirá desnecessários

ABSTRACT Hypomagnesemia type I is a rare autosomal recessive disorder characterized by severe hypomagnesemia, often accompanied by hypocalcemia. This disease is caused by mutations in the TRPM6 gene (which encodes the respective channel), leading to reduced intestinal absorption of magnesium and increased renal excretion due to a defect in reabsorption in the distal convoluted tubule. It usually manifests itself in the first months of life, with symptoms of neuromuscular hyperexcitability and seizures, refractory to antiepileptic therapy. Treatment consists of administering high doses of magnesium throughout life. Here, we report a case of hypomagnesemia type I with a novel pathogenic variant of TRPM6 in a 5-month-old girl who developed refractory seizures due to hypomagnesemia.

Abstract Introduction: Treatment decision in patients with asymptomatic carotid artery stenosis (ACS) is a matter of current debate with a recent shift towards isolated best medical treatment (BMT) as treatment of choice in most patients. However, poor medical compliance is one of the main constraints to the success of BMT. We hypothesized that more invasive treatment approaches can influence how patients perceive the severity of their illness and hence, treatment compliance. Methods: A cross-sectional study was performed including patients with asymptomatic >50% carotid artery stenosis (NASCET method) followed-up as outpatients in a Vascular Surgery department from January 2017 to December 2021. Optimal BMT was defined according to the European Society of Vascular Surgery Carotid Atherosclerotic Disease 2023 guidelines. Demographic and risk factor patient data was attained and subsequently a Portuguese translation of the Morisky medication-taking adherence scale (MMAS-4) questionnaire was given to all patients. Several additional questions developed by our group were also applied. Results: A total of 320 patients were identified (186 under BMT alone and 134 submitted to BMT and carotid endarterectomy - CEA). Most patients were male in both groups (75%) and the mean age was similar. Furthermore, patients undergoing CEA presented higher rates of current smoking (51.4% vs 15.9%; p<0.001) and lower rates of antiplatelet (80.0% vs. 92.8%; p=0.029) and statin (78.6% vs. 94.2%; p=0.007) prescription. Patients in the CEA group also presented with significantly lower medical compliance (40.3% vs. 24.5%, p<0.001) despite being more aware of their current medication´s name and therapeutic purpose. Conclusion: In conclusion, physicians seem to be more aggressive in controlling risk factors in BMT-only patients when compared to CEA-submitted patients. However, patients subjected to CEA may be more aware of ACS, despite having poorer medical adherence.

Abstract Background: Endovascular mechanical thrombectomy (MT) changed acute ischaemic stroke management and is considered the standard of care for patients with proximal anterior circulation occlusion. MT improves functional independence, without an increase in mortality. Despite its advantages, up to 20% of patients treated with MT do not have successful recanalization, leading to poor clinical outcome. We present a case of an acute ischaemic stroke of the anterior circulation due to occlusion of the common carotid artery successfully submitted to surgical thrombectomy after failed MT. Case report: A 43-year-old male, with prior history of diabetes, hypertension, dyslipidaemia and heart failure was admitted at the emergency unit with acute bilateral lower limb ischaemia, due to cardioembolic phenomena. He was submitted to bilateral femoral thrombectomy and started endovenous unfractionated heparin. On the fifth postoperative day he developed sudden depression of cognitive status and left side hemiplegia of brachial predominance. Computed tomography angiography revealed an occlusion of brachiocephalic trunk, right subclavian artery and common carotid artery, preserving its branches. MT, performed by interventional neuroradiology, was unsuccessful (no recanalization or clinical improvement). After multidisciplinary discussion, the patient underwent urgent surgical thrombectomy through carotid and transaxillary approaches. Postoperatively, the patient’s mental status and left sided motor function recovered progressively over time. Three months after, patient maintains anticoagulation with warfarin, without neurological sequalae. Conclusion: The low rate of recanalization and poor clinical outcome after MT failure underlines the need for alternative rescue approaches. Surgical thrombectomy could represent a lifeline. More studies are needed to corroborate its efficacy in patients with anterior circulation acute ischaemic stroke.

Resumo A doença quística adventicial é uma patologia que afeta principalmente o leito arterial, porém, em raros casos pode envolver o sistema venoso. O objetivo desta revisão foi padronizar a marcha diagnóstica, tratamento e vigilância de doentes com suspeita de doença quística adventicial venosa. Para cumprir os objetivos supracitados, uma revisão narrativa sumarizando os principais achados da literatura usando as bases de dados PUBMED e EMBASE foi feita. Um total de 33 artigos foram selecionados traduzindo-se num total de 41 casos de vACD. Após analise dos dados, foi possível concluir que o vaso mais frequentemente atingido é a veia femoral comum, e a maior parte dos doentes refere edema unilateral de membro com tempo de evolução variável. Quando perante um doente com edema unilateral de membro, em que a TVP foi excluída, é necessário proceder a outros meios complementares de diagnóstico de forma a confirmar, ou excluir, a vACD.

Abstract Introduction: Vascular Surgery is a demanding specialty with vast technological and research advances in the last decades. This has led to an increasing complexity of providing adequate training programs for the modern Vascular Surgeon. Our aim was to understand the current satisfaction rates and perceived limitations of the Vascular Surgery residency program in Portugal by performing an online survey to residents. Methods: A survey study was conducted between April and June 2021 targeting Angiology and Vascular Surgery Residents in Portugal. Residents were contacted by e-mail from the National Portuguese Society of Angiology and Vascular Surgery to answer the survey. The survey was anonymized, and all residents from the 1st to 6th year were invited to participate. The survey was carried out using the Google® Forms platform and using Portuguese language. Questions were developed with two main objectives, the first being to analyze the satisfaction rates with the current residency program and the second to understand current limitations and possible areas of improvement. Results: Overall, 33 (65%) out of 51 invited residents participated in the survey, with equally distributions regarding the year of residency. Nineteen residents were male (57.6%). Most residents considered that the current one-year General Surgery rotation should be reduced and replaced by other specialties such as Radiology. Main surgical limitations were found with open aortic surgery. However, when compared to other European countries, residents considered that the main current limitation was scientific/academic training. Most residents were satisfied with their residency and felt professional fulfillment, however, most also reported having an unhealthy work-life balance and lack of time for academic and scientific research. When comparing the survey answers between younger and older residents, older residents reported more often having considered quitting and having experienced bullying or harassment. Conclusion: The findings from this study provide insight into the perceptions of the trainees regarding current training limitations and satisfaction rates with the residency program and may provide a base for improvement and development strategies in the residency programs in Portugal.

Resumo A doença quística adventicial é uma patologia que afeta principalmente o leito arterial, porém, em raros casos pode envolver o sistema venoso. O objetivo desta revisão foi padronizar a marcha diagnóstica, tratamento e vigilância de doentes com suspeita de doença quística adventicial venosa. Para cumprir os objetivos supracitados, uma revisão narrativa sumarizando os principais achados da literatura usando as bases de dados PUBMED e EMBASE foi feita. Um total de 33 artigos foram selecionados traduzindo-se num total de 41 casos de vACD. Após analise dos dados, foi possível concluir que o vaso mais frequentemente atingido é a veia femoral comum, e a maior parte dos doentes refere edema unilateral de membro com tempo de evolução variável. Quando perante um doente com edema unilateral de membro, em que a TVP foi excluída, é necessário proceder a outros meios complementares de diagnóstico de forma a confirmar, ou excluir, a vACD.

Abstract Introduction: Vascular Surgery is a demanding specialty with vast technological and research advances in the last decades. This has led to an increasing complexity of providing adequate training programs for the modern Vascular Surgeon. Our aim was to understand the current satisfaction rates and perceived limitations of the Vascular Surgery residency program in Portugal by performing an online survey to residents. Methods: A survey study was conducted between April and June 2021 targeting Angiology and Vascular Surgery Residents in Portugal. Residents were contacted by e-mail from the National Portuguese Society of Angiology and Vascular Surgery to answer the survey. The survey was anonymized, and all residents from the 1st to 6th year were invited to participate. The survey was carried out using the Google® Forms platform and using Portuguese language. Questions were developed with two main objectives, the first being to analyze the satisfaction rates with the current residency program and the second to understand current limitations and possible areas of improvement. Results: Overall, 33 (65%) out of 51 invited residents participated in the survey, with equally distributions regarding the year of residency. Nineteen residents were male (57.6%). Most residents considered that the current one-year General Surgery rotation should be reduced and replaced by other specialties such as Radiology. Main surgical limitations were found with open aortic surgery. However, when compared to other European countries, residents considered that the main current limitation was scientific/academic training. Most residents were satisfied with their residency and felt professional fulfillment, however, most also reported having an unhealthy work-life balance and lack of time for academic and scientific research. When comparing the survey answers between younger and older residents, older residents reported more often having considered quitting and having experienced bullying or harassment. Conclusion: The findings from this study provide insight into the perceptions of the trainees regarding current training limitations and satisfaction rates with the residency program and may provide a base for improvement and development strategies in the residency programs in Portugal.

ABSTRACT The purpose of this study was to explore the relationships between sociodemographic, clinical, and psychological variables and their contribution towards family functioning during the first wave of COVID-19 in Portugal. The COVID-19 pandemic was an overwhelming and stressful life event with social consequences that impacted family functioning and contributed to multilevel disruptions. The study used a cross-sectional design and included 110 participants (94 women), with a mean age of 35.71 (SD = 13.53). Participants answered self-report measures assessing family satisfaction, hope, psychological well-being, risk perception, and family functioning. Hope (pathways subscale) played a moderating role in the relationship between family satisfaction and family functioning. Family satisfaction and psychological well-being partially mediated the relationship between hope and family functioning. Clinical relevance and implications for further research are addressed. Intervention should focus on increasing psychological well-being and hope together with family satisfaction in order to promote family functioning. For those individuals struggling with COVID-19 issues, mental health interventions are paramount.

RESUMEN Este estudio ha tenido como objetivo explorar la relación entre las variables sociodemográficas, clínicas y psicológicas y el funcionamiento familiar en la primera oleada de COVID-19 en Portugal. La pandemia de COVID-19 fue una situación de vida abrumadora y estresante con consecuencias sociales que afectaron en el funcionamiento familiar. El estudio utilizó un diseño transversal e incluyó 110 participantes (94 mujeres), con una edad media de 35.71 años (SD = 13.53). Los participantes respondieron a medidas que evaluaban la satisfacción familiar, la esperanza, el bienestar psicológico, la percepción del riesgo y el funcionamiento familiar. La esperanza (subescala “caminos”) desempeñó un papel moderador en la relación entre la satisfacción familiar y el funcionamiento familiar. La satisfacción familiar y el bienestar psicológico mediaron parcialmente en la relación entre la esperanza y el funcionamiento familiar. Se abordan la importancia clínica y las implicaciones para futuras investigaciones. La intervención deberá centrarse en aumentar el bienestar psicológico y la esperanza junto con la satisfacción familiar para promover el funcionamiento familiar. Para los individuos que luchan con problemas de COVID-19 son primordiales las intervenciones de salud mental.

Resumo: Fatores associados a anemia e deficiência de vitamina A foram investigados em 7.716 crianças de 6-59 meses de idade parte da Estudo Nacional de Alimentação e Nutrição Infantil (ENANI-2019). Adotamos uma abordagem hierárquica baseada em um modelo teórico do Fundo das Nações Unidas para a Infância (UNICEF) com três níveis estratificados por idade (6-23; 24-59 meses). Foram estimadas razões de prevalência (RP) e intervalos de 95% de confiança (IC95%). Determinantes habilitadores: observamos maior prevalência de anemia em crianças de 6-23 meses de idade cujas mães tinham ≤ 7 anos de escolaridade (RP = 1,92; IC95%: 1,10; 3,34), < 20 anos de idade (RP = 2,47; IC95%: 1,34; 4,56) ou 20-30 anos de idade (RP = 1,95; IC95%: 1,11; 3,44), cor parda (RP = 1,57; IC95%: 1,06; 2,23); e em crianças de 24-59 meses de idade na Região Norte (RP = 3,11; IC95%: 1,58; 6,13). Encontramos maior prevalência de deficiência de vitamina A em crianças de 6-23 meses de idade no Centro-oeste (RP = 2,32; IC95%: 1,33; 4,05) e em crianças de 24-59 meses de idade residentes nas regiões Norte (RP = 1,96; IC95%: 1,16; 3,30), Sul (RP = 3,07; IC95%: 1,89; 5,01) e Centro-oeste (RP = 1,91; IC95%: 1,12; 3,25) cujas mães tinham entre 20-34 anos de idade (RP = 1,62; IC95%: 1,11; 2,35). Determinantes subjacentes: a presença de mais de uma criança < 5 anos de idade no domicílio se associou a maior prevalência de anemia (RP = 1,61; IC95%: 1,15; 2,25) e deficiência de vitamina A (RP = 1,82; IC95%: 1,09; 3,05) em crianças de 6-23 meses de idade. Determinantes imediatos: o consumo de 1-2 grupos de alimentos ultraprocessados em crianças de 24-59 meses de idade (RP = 0,44; IC95%: 0,25; 0,81) e o não aleitamento materno no dia anterior em crianças de 6-23 meses de idade (RP = 0,56; IC95%: 0,36; 0,95) foram associados com a menor prevalência de anemia e deficiência de vitamina A. Políticas públicas focadas em grupos geográfica e socialmente vulneráveis são necessárias para promover equidade.

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Abstract: Factors associated with anemia and vitamin A deficiency were investigated in 7,716 children 6-59 months of age studied in the Brazilian National Survey on Child Nutrition (ENANI-2019). We adopted a hierarchical approach based on a United Nations Children’s Fund (UNICEF) theoretical model with three levels, stratifying by age (6-23; 24-59 months). Prevalence ratio (PR) and 95% confidence interval (95%CI) were estimated. Enabling determinants: a higher prevalence of anemia was observed in children 6-23 months whose mothers had ≤ 7 years of schooling (PR = 1.92; 95%CI: 1.10; 3.34), < 20 years old (PR = 2.47; 95%CI: 1.34; 4.56) or 20-30 years old (PR = 1.95; 95%CI: 1.11; 3.44), mixed-race (PR = 1.57; 95%CI: 1.06; 2.23); and in children 24-59 months in the North Region (PR = 3.11; 95%CI: 1.58; 6.13). A higher prevalence for vitamin A deficiency was observed in children 6-23 months from Central-West (PR = 2.32; 95%CI: 1.33; 4.05), and in children 24-59 months living in the North (PR = 1.96; 95%CI: 1.16; 3.30), South (PR = 3.07; 95%CI: 1.89; 5.01), and Central-West (PR = 1.91; 95%CI: 1.12; 3.25) and whose mothers were 20-34 years (PR = 1.62; 95%CI: 1.11; 2.35). Underlying determinants: the presence of more than one child < 5 years old in the household was associated with a higher prevalence of anemia (PR = 1.61; 95%CI: 1.15; 2.25) and vitamin A deficiency (PR = 1.82; 95%CI: 1.09; 3.05) in children 6-23 months. Immediate determinants: consumption of 1-2 groups of ultra-processed foods in children 24-59 months (PR = 0.44; 95%CI: 0.25; 0.81) and lack of breastfeeding in the day before in children 6-23 months (PR = 0.56; 95%CI: 0.36; 0.95) were associated with lower prevalence of anemia and vitamin A deficiency. Public policies focused on geographically and socially vulnerable groups are needed to promote equity.

ABSTRACT: This study assessed the nitrogen nutrition index, morphogenic characteristics and tiller structure of Alexandergrass (Urochloaplantaginea (LINK) Hitch) pasture submitted to different nitrogen (N) levels (zero, 150 or 300 kg ha-1 of N). The experimental design was entirely randomized with repeated measures arrangement. The experimental animals were Angus heifers under rotational stocking grazing method. The number of animals was variable to keep 30±5 cm post-grazing sward height. Nitrogen nutrition index increased linearly according N levels (Ŷ = 59.8 + 0.1216N; P < 0.0001; r²=0.53). The leaf appearance rate adjusted to a positive linear regression model according the thermal sum (TS) with zero of N (Ŷ0N = 0.0077 + 0.0000087TS; P = 0.0308; r² = 0.72) and 150 kg ha-1 of N (Ŷ150N = 0.0020 + 0.000021 TS; P = 0.0022; r² = 0.92). The use of 300 kg ha-1 of N did not alter the leaf appearance rate (0.0124 leaf degree-days-1). The use of up to 300 kg ha-1 of N increases the Alexandergrass nitrogen content. The leaf appearance rate in Alexandergrass is modified using N while the morphogenic characteristics leaf expansion, stem expansion, phyllochron, leaf lifespan, leaf elongation duration and tiller structure are not altered by N utilization.

RESUMO: Este trabalho teve como objetivo avaliar o índice de nutrição nitrogenada, as características morfogênicas e a estrutura dos perfilhos de papuã (Urochloa plantaginea (LINK) Hitch) submetidos a diferentes níveis de nitrogênio (N) (zero, 150 ou 300 kg ha-1 de N). O delineamento experimental foi inteiramente casualizado com medidas repetidas no tempo. Os animais experimentais foram novilhas Angus em regime de pastejo rotacionado. O número de animais foi variável para manter 30 ± 5 cm de altura do pasto pós-pastejo. O índice de nutrição com nitrogênio aumentou linearmente de acordo com os níveis de N (Ŷ = 59,8 + 0,1216N; P < 0,0001; r² = 0,53). A taxa de aparecimento de folhas ajustou-se ao modelo de regressão linear positiva de acordo com a soma térmica (TS) com zero de N (Ŷ0N = 0,0077 + 0,0000087TS; P = 0,0308; r² = 0,72) e 150 kg ha-1 de N (Ŷ150N = 0,0020 +0,000021 TS; P = 0,0022; r² = 0,92). O uso de 300 kg ha-1 de N não alterou a taxa de aparecimento de folhas (0,0124 folha grau-dia-1). O uso de até 300 kg ha-1 de N aumenta o teor de nitrogênio do papuã. A taxa de aparecimento de folhas em papuã é modificada usando N, enquanto que as características morfogênicas expansão foliar, expansão de colmo, filocrono, duração de vida das folhas, duração da elongação foliar e a estrutura dos perfilhos não são alteradas pela utilização de N.

Abstract: Introduction: This paper reports research about graduates of the Professional Master’s Degree in Family Health (PROFSAÚDE), a nationwide qualification provided by a network composed of 25 institutions from the five regions of Brazil. The course is administered through distance learning,and is aimed at strengthening knowledge related to Primary Health Care, health management and education. Purpose: To characterize the socio-demographic profile and professional performance of the graduates of the first class of the professional master’s degree in Family Health and identify how the course has contributed to professional performance and to strengthening the Unified Health System (SUS). Method: This research is based on a quantitative approach that used a questionnaire with open and closed questions as a research instrument. Results: The results present the profile of the graduates, their motivations for taking the course, the impacts on their daily work and professional career, as well as the repercussion of the final product of the course in the training processes of health care professionals. Conclusion: The potential of training health professionals through distance learning is showcased by the ability to reach different regions of the country equitably, providing the professional/student with tools to examine their daily lives and propose solutions to the challenges of Primary Health Care, as mentioned by graduates in relation to the contribution of the final product of the Master’s degree.

Resumo: Introdução: O texto apresenta pesquisa com alunos egressos do Mestrado Profissional em Saúde da Família (PROFSAÚDE) que é uma proposta de formação em rede nacional composta por 25 instituições das cinco regiões do Brasil, realizada na modalidade de ensino a distância (EAD), voltada para o fortalecimento de conhecimentos relacionados à atenção primária à saúde, à gestão em saúde e à educação. Objetivo: Este estudo caracteriza o perfil sociodemográfico e de atuação profissional dos egressos da primeira turma de mestrado profissional em Saúde da Família em rede nacional e identifica as contribuições do curso para a atuação profissional e o fortalecimento do Sistema Único de Saúde (SUS). Método: Trata-se de uma pesquisa de abordagem quantitativa que utilizou um questionário com perguntas abertas e fechadas como instrumento de pesquisa. Resultado: Os resultados apresentam o perfil dos egressos, as motivações para realização do curso, os impactos no cotidiano de trabalho e na carreira profissional, bem como a repercussão do produto final do curso nos processos formativos de profissionais da saúde e na assistência. Conclusão: A experiência de formação de profissionais da saúde na modalidade EAD tem potencial pela capacidade de atingir equitativamente diferentes regiões do país, propiciando ao profissional-aluno ferramentas para examinar seu cotidiano e propor soluções aos desafios da atenção primária à saúde, como mencionado pelos egressos em relação à contribuição do produto final do mestrado.