Underuse of reperfusion therapy with systemic thrombolysis in high-risk acute pulmonary embolism in a Portuguese center.

INTRODUCTION: Reperfusion therapy is generally recommended in acute high-risk pulmonary embolism (HR-PE), but several population-based studies report that it is underused. Data on epidemiology, management and outcomes of HR-PE in Portugal are scarce. OBJECTIVE: To determine the reperfusion rate in HR-PE patients, the reasons for non-reperfusion, and how it influences outcomes. METHODS: In this retrospective cohort study of consecutive HR-PE patients admitted to a thromboembolic disease referral center between 2008 and 2018, independent predictors for non-reperfusion were assessed by multivariate logistic regression. PE-related mortality and long-term MACE (cardiovascular mortality, PE recurrence and chronic thromboembolic disease) were calculated according to the Kaplan-Meier method. Differences stratified by reperfusion were assessed using the log-rank test. RESULTS: Of 1955 acute PE patients, 3.8% presented with hemodynamic instability. The overall reperfusion rate was 50%: 35 patients underwent systemic thrombolysis, one received first-line percutaneous embolectomy and one rescue endovascular treatment. Independent predictors of non-reperfusion were: age, with >75 years representing 12 times the risk of non-treatment (OR 11.9, 95% CI 2.7-52.3, p=0.001); absolute contraindication for thrombolysis (31.1%), with recent major surgery and central nervous system disease as the most common reasons (OR 16.7, 95% CI 3.2-87.0, p<0.001); and being hospitalized (OR 7.7, 95% CI 1.4-42.9, p=0.020). At a mean follow-up of 2.5±3.3 years, the survival rate was 33.8%. Although not reaching statistical significance for hospital mortality, mortality in the reperfusion group was significantly lower at 30 days, 12 months and during follow-up (relative risk reduction of death of 64% at 12 months, p=0.013). Similar results were found for MACE. CONCLUSIONS: In this population, the recommended reperfusion therapy was performed in only 50% of patients, with advanced age and absolute contraindications to fibrinolysis being the main predictors of non-reperfusion. In this study, thrombolysis underuse was associated with a significant increase in short- and long-term mortality and events.

Percutaneous left ventricular assistance in cardiogenic shock due to Takotsubo cardiomyopathy secondary to status epilepticus.

Takotsubo syndrome is an acute reversible cardiomyopathy with left ventricular dysfunction and a clinical presentation similar to an acute coronary syndrome. Emotional or physical triggers can cause it, including neurological conditions such as seizures. We describe a case of a woman in her 50s with Takotsubo syndrome secondary to status epilepticus, presenting with cardiac arrest and cardiogenic shock. We excluded acute coronary syndrome with coronary angiography. Despite inotropic support, she remained haemodynamically unstable and a percutaneous left ventricular assistance with an Impella CP catheter was initiated. This resulted in a quick weaning of haemodynamic support and recovery of left ventricle systolic function in 2 weeks. This case illustrates the importance of a high index of suspicion to make this diagnosis and link it to neurological triggers, as well as to consider mechanical circulatory support in managing cardiogenic shock due to this cardiomyopathy.

Association of 3-Phenoxybenzoic Acid Exposure during Pregnancy with Maternal Outcomes and Newborn Anthropometric Measures: Results from the IoMum Cohort Study.

The aims of this study were to characterize the exposure of pregnant women living in Portugal to 3-phenoxybenzoic acid (3-PBA) and to evaluate the association of this exposure with maternal outcomes and newborn anthropometric measures. We also aimed to compare exposure in summer with exposure in winter. Pregnant women attending ultrasound scans from April 2018 to April 2019 at a central hospital in Porto, Portugal, were invited to participate. Inclusion criteria were: gestational week between 10 and 13, confirmed fetal vitality, and a signature of informed consent. 3-PBA was measured in spot urine samples by gas chromatography with mass spectrometry (GC-MS). The median 3-PBA concentration was 0.263 (0.167; 0.458) µg/g creatinine (n = 145). 3-PBA excretion was negatively associated with maternal pre-pregnancy body mass index (BMI) (p = 0.049), and it was higher during the summer when compared to winter (p < 0.001). The frequency of fish or yogurt consumption was associated positively with 3-PBA excretion, particularly during the winter (p = 0.002 and p = 0.015, respectively), when environmental exposure is low. Moreover, 3-PBA was associated with levothyroxine use (p = 0.01), a proxy for hypothyroidism, which could be due to a putative 3-PBA-thyroid hormone antagonistic effect. 3-PBA levels were not associated with the anthropometric measures of the newborn. In conclusion, pregnant women living in Portugal are exposed to 3-PBA, particularly during summer, and this exposure may be associated with maternal clinical features.

Boas práticas em saúde integral para travestis, transexuais e outras variabilidades de gênero/gêneros diversos: experiência do Ambulatório de Saúde Integral para Travestis e Transexuais (ASITT) do Centro de Referência e Treinamento DST/Aids-SP, Secretaria de Estado da Saúde de São Paulo / Good practices in integral health for travestis, transsexuals and other variabilities of gender/different genders: experience of the Health Outpatient Clinic for Travestis and Transsexuals (ASITT) of the STD/AIDS Reference and Training Center-SP, State Department of Health of Sao Paulo

O Centro de Referência e Treinamento DST/Aids-SP da Secretaria de Estado da Saúde de São Paulo, inaugurou, em junho de 2009, em suas dependências, o primeiro ambulatório voltado exclusivamente à saúde integral de travestis e transexuais do país, com ênfase no processo transexualizador do Sistema Único de Saúde (SUS) e nas necessidades dessa população. Este artigo tem por objetivo apresentar as modalidades assistenciais ofertadas no serviço, as demandas da população atendida no ambulatório, suas vulnerabilidades, fatores de risco e resiliência a que está submetida, assim como as considerações e os desafios no campo da política pública voltada à população trans para promover seu acesso à atenção em saúde de forma acolhedora, livre de preconceito, julgamentos morais e práticas discriminatórias.

Machine learning for the real-time assessment of left ventricular ejection fraction in critically ill patients: a bedside evaluation by novices and experts in echocardiography.

BACKGROUND: Machine learning algorithms have recently been developed to enable the automatic and real-time echocardiographic assessment of left ventricular ejection fraction (LVEF) and have not been evaluated in critically ill patients. METHODS: Real-time LVEF was prospectively measured in 95 ICU patients with a machine learning algorithm installed on a cart-based ultrasound system. Real-time measurements taken by novices (LVEFNov) and by experts (LVEFExp) were compared with LVEF reference measurements (LVEFRef) taken manually by echo experts. RESULTS: LVEFRef ranged from 26 to 80% (mean 54 ± 12%), and the reproducibility of measurements was 9 ± 6%. Thirty patients (32%) had a LVEFRef < 50% (left ventricular systolic dysfunction). Real-time LVEFExp and LVEFNov measurements ranged from 31 to 68% (mean 54 ± 10%) and from 28 to 70% (mean 54 ± 9%), respectively. The reproducibility of measurements was comparable for LVEFExp (5 ± 4%) and for LVEFNov (6 ± 5%) and significantly better than for reference measurements (p < 0.001). We observed a strong relationship between LVEFRef and both real-time LVEFExp (r = 0.86, p < 0.001) and LVEFNov (r = 0.81, p < 0.001). The average difference (bias) between real time and reference measurements was 0 ± 6% for LVEFExp and 0 ± 7% for LVEFNov. The sensitivity to detect systolic dysfunction was 70% for real-time LVEFExp and 73% for LVEFNov. The specificity to detect systolic dysfunction was 98% both for LVEFExp and LVEFNov. CONCLUSION: Machine learning-enabled real-time measurements of LVEF were strongly correlated with manual measurements obtained by experts. The accuracy of real-time LVEF measurements was excellent, and the precision was fair. The reproducibility of LVEF measurements was better with the machine learning system. The specificity to detect left ventricular dysfunction was excellent both for experts and for novices, whereas the sensitivity could be improved. TRIAL REGISTRATION: NCT05336448. Retrospectively registered on April 19, 2022.

Continuous Aspiration Mechanical Thrombectomy for the management of intermediate- and high-risk pulmonary embolism: Data from the first cohort in Portugal.

INTRODUCTION: This study describes the experience of a reference center using continuous aspiration mechanical thrombectomy for acute high- and intermediate-high-risk pulmonary embolism (PE). METHODS: Twenty-nine consecutive patients with acute central PE (48.3% high-risk PE; 82.8% in class >III from the original Pulmonary Embolism Severity Index score; median Charlson Comorbidity Index of 4) were treated with the Indigo® Mechanical Thrombectomy System between March 2018 and March 2020. Technical success was defined as successful placement of the device and initiation of aspiration thrombectomy. Clinical success was defined as any improvement in hemodynamic and/or oxygenation parameters, pulmonary hypertension or right heart strain at 48 hours, and survival to hospital discharge. Safety was defined as freedom from severe adverse events potentially related to the procedure. Three-month follow-up results were collected. RESULTS: Technical success was 96.6%. Miller index and systolic pulmonary arterial pressure were significantly reduced after the procedure (-5.5±3.0, and -10.2±11.5 mmHg, respectively, both p<0.001). There was a significant improvement in mean paO2/FiO2 ratio (+77.1±103.2; p=0.001), shock index (-0.4±0.4; p<0.001), need for aminergic support at 48 h after the procedure (-75.0%, p=0.006) and improvement in right ventricular function in 66.6% (p=0.008). Clinical success was 75.9%. Severe adverse event rate was 10.3%: two deaths during the procedure and one pulmonary macroembolization during device progression. In-hospital and three-month survival rates were 82.8% and 72.4%, respectively. CONCLUSIONS: Aspiration thrombectomy for acute high- and intermediate-high-risk PE is feasible with a high technical and clinical success rate. Nevertheless, all-cause mortality is still high, probably related to the baseline high-risk features of the studied population and associated comorbidities.

Comprehensive analysis of the GALACTINOL SYNTHASE (GolS) gene family in citrus and the function of CsGolS6 in stress tolerance.

Galactinol synthase (GolS) catalyzes the first and rate-limiting step in the synthesis of raffinose family of oligosaccharides (RFOs), which serve as storage and transport sugars, signal transducers, compatible solutes and antioxidants in higher plants. The present work aimed to assess the potential functions of citrus GolS in mechanisms of stress response and tolerance. By homology searches, eight GolS genes were found in the genomes of Citrus sinensis and C. clementina. Phylogenetic analysis showed that there is a GolS ortholog in C. clementina for each C. sinensis GolS, which have evolved differently from those of Arabidopsis thaliana. Transcriptional analysis indicated that most C. sinensis GolS (CsGolS) genes show a low-level tissue-specific and stress-inducible expression in response to drought and salt stress treatments, as well as to 'Candidatus Liberibacter asiaticus' infection. CsGolS6 overexpression resulted in improved tobacco tolerance to drought and salt stresses, contributing to an increased mesophyll cell expansion, photosynthesis and plant growth. Primary metabolite profiling revealed no significant changes in endogenous galactinol, but different extents of reduction of raffinose in the transgenic plants. On the other hand, a significant increase in the levels of metabolites with antioxidant properties, such as ascorbate, dehydroascorbate, alfa-tocopherol and spermidine, was observed in the transgenic plants. These results bring evidence that CsGolS6 is a potential candidate for improving stress tolerance in citrus and other plants.

Estratégias de Revascularização em Doentes com Infarto Agudo do Miocárdio em Choque Cardiogênico - Resultados do Registo Português de Síndromes Coronárias Agudas / Revascularization Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock: Results from the Portuguese Registry on Acute Coronary Syndromes

Resumo Fundamento: Em doentes com infarto agudo do miocárdio (IAM), choque cardiogênico (CC) e doença multivaso (DMV) persistem dúvidas sobre a intervenção nas artérias não responsáveis. Objetivos: 1) caracterizar a amostra de doentes com IAM, CC e DMV incluídos no Registo Nacional Português de Síndromes Coronárias Agudas (RNSCA); 2) comparar os eventos associados a diferentes estratégias de revascularização; e 3) identificar preditores de mortalidade intra-hospitalar nesta amostra. Métodos: Estudo observacional retrospetivo de doentes com IAM, CC e DMV incluídos no RNSCA entre 2010 e 2018. Compararam-se duas estratégias de revascularização: completa durante o procedimento índice (grupo 1); e completa diferida ou incompleta durante o internamento (grupo 2-3). O endpoint primário foi a ocorrência de reinfarto ou morte intra-hospitalar. A significância estatística foi definida por um valor p < 0,05. Resultados: Identificaram-se 127 doentes com IAM, CC e DMV (18,1% no grupo 1 e 81,9% no grupo 2-3), com idade média de 70 ± 12 anos e 92,9% com IAM com supradesnivelamento do segmento ST. O endpoint primário ocorreu em 47,8% dos doentes do grupo 1 e em 37,5% do grupo 2-3 (p = 0,359). As taxas de mortalidade intra-hospitalar, reinfarto, acidente vascular cerebral e hemorragia major foram também semelhantes nos dois grupos. Os preditores de mortalidade intra-hospitalar nesta amostra foram a presença na admissão de disfunção ventricular esquerda (OR 16,8), bloqueio completo de ramo direito (OR 7,6) e anemia (OR 5,2), (p ≤ 0,02). Conclusões: Entre os doentes com IAM, CC e DMV, incluídos no RNSCA, não se verificou diferença significativa entre revascularização completa no evento índex e completa diferida ou incompleta durante o internamento, relativamente à ocorrência de morte intra-hospitalar ou reinfarto. (Arq Bras Cardiol. 2021; 116(5):867-876)

Abstract Background: In patients with acute myocardial infarction (MI), cardiogenic shock (CS), and multivessel disease (MVD) questions remain unanswered when it comes to intervention on non-culprit arteries. Objective: This article aims to 1) characterize patients with MI, CS and MVD included in the Portuguese Registry on Acute Coronary Syndromes (ProACS); 2) compare different revascularization strategies in the sample; 3) identify predictors of in-hospital mortality among these patients. Methods: Observational retrospective study of patients with MI, CS and MVD included in the ProACS between 2010 and 2018. Two revascularization strategies were compared: complete during the index procedure (group 1); and complete or incomplete during the index hospitalization (groups 2-3). The primary endpoint was a composite of in-hospital death or MI. Statistical significance was defined by a p-value <0.05. Results: We identified 127 patients with MI, CS, and MVD (18.1% in group 1, and 81.9% in groups 2-3), with a mean age of 7012 years, and 92.9% of the sample being diagnosed with ST-segment elevation MI (STEMI). The primary endpoint occurred in 47.8% of the patients in group 1 and 37.5% in group 2-3 (p = 0.359). The rates of in-hospital death, recurrent MI, stroke, and major bleeding were also similar. The predictors of in-hospital death in this sample were the presence of left ventricle systolic dysfunction on admission (OR 16.8), right bundle branch block (OR 7.6), and anemia (OR 5.2) (p ≤ 0.02 for both). Conclusions: Among patients with MI, CS, and MVD included in the ProACS, there was no significant difference between complete and incomplete revascularization during the index hospitalization regarding the occurrence of in-hospital death or MI. (Arq Bras Cardiol. 2021; 116(5):867-876)

Consensus on the standard terminology used in the nutrition care of adult patients with chronic kidney disease / Consenso sobre a terminologia padronizada do processo de cuidado em nutrição para pacientes adultos com doença renal crônica

Abstract This nutrition consensus document is the first to coordinate the efforts of three professional organizations - the Brazilian Association of Nutrition (Asbran), the Brazilian Society of Nephrology (SBN), and the Brazilian Society of Parenteral and Enteral Nutrition (Braspen/SBNPE) - to select terminology and international standardized tools used in nutrition care. Its purpose is to improve the training delivered to nutritionists working with adult patients with chronic kidney disease (CKD). Eleven questions were developed concerning patient screening, care, and nutrition outcome management. The recommendations set out in this document were developed based on international guidelines and papers published in electronic databases such as PubMed, EMBASE(tm), CINHAL, Web of Science, and Cochrane. From a list of internationally standardized terms, twenty nutritionists selected the ones they deemed relevant in clinical practice involving outpatients with CKD. The content validity index (CVI) was calculated with 80% agreement in the answers. The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) framework was used to assess the strength of evidence and recommendations. A total of 107 terms related to Nutrition Assessment and Reassessment, 28 to Diagnosis, nine to Intervention, and 94 to Monitoring and Evaluation were selected. The list of selected terms and identified tools will be used in the development of training programs and the implementation of standardized nutrition terminology for nutritionists working with patients with chronic kidney disease in Brazil.

Resumo Este consenso representa a primeira colaboração entre três organizações profissionais com foco em nutrição: Associação Brasileira de Nutrição (Asbran), Sociedade Brasileira de Nefrologia (SBN) e Sociedade Brasileira de Nutrição Parenteral e Enteral (Braspen/SBNPE), com o objetivo de identificar a terminologia e instrumentos padronizados internacionalmente para o processo de cuidado em nutrição. O foco é facilitar a condução de treinamentos de nutricionistas que trabalham com pacientes adultos com doenças renais crônicas (DRC). Foram levantadas onze questões relacionadas à triagem, ao processo de cuidado e à gestão de resultados em nutrição. As recomendações foram baseadas em diretrizes internacionais e em bancos de dados eletrônicos, como PubMed, EMBASE(tm), CINHAL, Web of Science e Cochrane. A partir do envio de listas de termos padronizados internacionalmente, vinte nutricionistas especialistas selecionaram aqueles que consideraram muito claros e relevantes para a prática clínica com pacientes ambulatoriais com DRC. Foi calculado o Índice de Validade de Conteúdo (IVC), com 80% de concordância nas respostas. O Grading of Recommendations, Assessment, Development and Evaluation (GRADE) foi usado para atribuir força de evidência às recomendações. Foram selecionados 107 termos de Avaliação e Reavaliação, 28 de Diagnóstico, 9 de Intervenção e 94 de Monitoramento e Aferição em Nutrição. A lista de termos selecionados e identificação de instrumentos auxiliará no planejamento de treinamentos e na implementação de terminologia padronizada em nutrição no Brasil, para nutricionistas que trabalham com pacientes renais crônicos.

Revascularization Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock: Results from the Portuguese Registry on Acute Coronary Syndromes. / Estratégias de Revascularização em Doentes com Infarto Agudo do Miocárdio em Choque Cardiogênico ­ Resultados do Registo Português de Síndromes Coronárias Agudas.

BACKGROUND: In patients with acute myocardial infarction (MI), cardiogenic shock (CS), and multivessel disease (MVD) questions remain unanswered when it comes to intervention on non-culprit arteries. OBJECTIVE: This article aims to 1) characterize patients with MI, CS and MVD included in the Portuguese Registry on Acute Coronary Syndromes (ProACS); 2) compare different revascularization strategies in the sample; 3) identify predictors of in-hospital mortality among these patients. METHODS: Observational retrospective study of patients with MI, CS and MVD included in the ProACS between 2010 and 2018. Two revascularization strategies were compared: complete during the index procedure (group 1); and complete or incomplete during the index hospitalization (groups 2-3). The primary endpoint was a composite of in-hospital death or MI. Statistical significance was defined by a p-value <0.05. RESULTS: We identified 127 patients with MI, CS, and MVD (18.1% in group 1, and 81.9% in groups 2-3), with a mean age of 7012 years, and 92.9% of the sample being diagnosed with ST-segment elevation MI (STEMI). The primary endpoint occurred in 47.8% of the patients in group 1 and 37.5% in group 2-3 (p = 0.359). The rates of in-hospital death, recurrent MI, stroke, and major bleeding were also similar. The predictors of in-hospital death in this sample were the presence of left ventricle systolic dysfunction on admission (OR 16.8), right bundle branch block (OR 7.6), and anemia (OR 5.2) (p ≤ 0.02 for both). CONCLUSIONS: Among patients with MI, CS, and MVD included in the ProACS, there was no significant difference between complete and incomplete revascularization during the index hospitalization regarding the occurrence of in-hospital death or MI. (Arq Bras Cardiol. 2021; 116(5):867-876).

FUNDAMENTO: Em doentes com infarto agudo do miocárdio (IAM), choque cardiogênico (CC) e doença multivaso (DMV) persistem dúvidas sobre a intervenção nas artérias não responsáveis. OBJETIVOS: 1) caracterizar a amostra de doentes com IAM, CC e DMV incluídos no Registo Nacional Português de Síndromes Coronárias Agudas (RNSCA); 2) comparar os eventos associados a diferentes estratégias de revascularização; e 3) identificar preditores de mortalidade intra-hospitalar nesta amostra. MÉTODOS: Estudo observacional retrospetivo de doentes com IAM, CC e DMV incluídos no RNSCA entre 2010 e 2018. Compararam-se duas estratégias de revascularização: completa durante o procedimento índice (grupo 1); e completa diferida ou incompleta durante o internamento (grupo 2-3). O endpoint primário foi a ocorrência de reinfarto ou morte intra-hospitalar. A significância estatística foi definida por um valor p < 0,05. RESULTADOS: Identificaram-se 127 doentes com IAM, CC e DMV (18,1% no grupo 1 e 81,9% no grupo 2-3), com idade média de 70 ± 12 anos e 92,9% com IAM com supradesnivelamento do segmento ST. O endpoint primário ocorreu em 47,8% dos doentes do grupo 1 e em 37,5% do grupo 2-3 (p = 0,359). As taxas de mortalidade intra-hospitalar, reinfarto, acidente vascular cerebral e hemorragia major foram também semelhantes nos dois grupos. Os preditores de mortalidade intra-hospitalar nesta amostra foram a presença na admissão de disfunção ventricular esquerda (OR 16,8), bloqueio completo de ramo direito (OR 7,6) e anemia (OR 5,2), (p ≤ 0,02). CONCLUSÕES: Entre os doentes com IAM, CC e DMV, incluídos no RNSCA, não se verificou diferença significativa entre revascularização completa no evento índex e completa diferida ou incompleta durante o internamento, relativamente à ocorrência de morte intra-hospitalar ou reinfarto. (Arq Bras Cardiol. 2021; 116(5):867-876).

Consensus on the standard terminology used in the nutrition care of adult patients with chronic kidney disease.

This nutrition consensus document is the first to coordinate the efforts of three professional organizations - the Brazilian Association of Nutrition (Asbran), the Brazilian Society of Nephrology (SBN), and the Brazilian Society of Parenteral and Enteral Nutrition (Braspen/SBNPE) - to select terminology and international standardized tools used in nutrition care. Its purpose is to improve the training delivered to nutritionists working with adult patients with chronic kidney disease (CKD). Eleven questions were developed concerning patient screening, care, and nutrition outcome management. The recommendations set out in this document were developed based on international guidelines and papers published in electronic databases such as PubMed, EMBASE(tm), CINHAL, Web of Science, and Cochrane. From a list of internationally standardized terms, twenty nutritionists selected the ones they deemed relevant in clinical practice involving outpatients with CKD. The content validity index (CVI) was calculated with 80% agreement in the answers. The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) framework was used to assess the strength of evidence and recommendations. A total of 107 terms related to Nutrition Assessment and Reassessment, 28 to Diagnosis, nine to Intervention, and 94 to Monitoring and Evaluation were selected. The list of selected terms and identified tools will be used in the development of training programs and the implementation of standardized nutrition terminology for nutritionists working with patients with chronic kidney disease in Brazil.

Validation of Malnutrition Clinical Characteristics in Critically Ill Patients.

BACKGROUND: This study aimed to validate the Malnutrition Clinical Characteristics (MCC) compared with the Subjective Global Assessment (SGA), considering anthropometric measures, comorbidities, and mortality in critically ill patients. METHODS: This longitudinal observational study included patients admitted to the general intensive care unit (ICU) of a public hospital. SGA was used as the reference standard for diagnosing malnutrition. The inclusion criteria were patients receiving nutrition support therapy and age >18 years. The nutrition therapy was optimized as close as possible to 100% of the patients' energy and protein needs regardless of the access route. Hospital length of stay (LOS), comorbidities on admission, and death were documented during the entire hospitalization of each patient. Body mass index (BMI), midarm circumference (MAC), and calf circumference (CC) were considered anthropometric measures. RESULTS: The convenience sample comprised 102 ICU patients. Comparing the original malnutrition classifications of SGA with MCC, the specificity was 87.5%, sensitivity was 100%, accuracy was 93.3%, positive predictive value was 87.5%, and negative predictive value was 100%. When classified in 2 groups, namely "well-nourished" and "malnourished," specificity and sensitivity were 100% between both groups. Malnourished patients had significantly higher mortality rates (P = .006) and longer LOSs (P <.001). As expected, BMI, MAC, and CC results were similar for SGA and MCC. CONCLUSIONS: MCC was a valid tool for classifying malnutrition in ICU patients. Because the evaluation is fast and does not require expensive equipment that is difficult to handle, it is believed to be practical, low-cost, and easy to use.

Transition to fatherhood in the prenatal period: a qualitative study. / Transição para a paternidade no período pré-natal: um estudo qualitativo.

Becoming a father requires a process of personal development, inner reorientation, and adaptation to a new role. The literature on this process has been sparse, devaluing how challenging and problematic the transition to becoming a father can be. This qualitative, exploratory, descriptive, cross-sectional and retrospective study sought to understand the experiences of men in the transition to fatherhood during the prenatal period. It included a sample of 10 men experiencing, for the first time, a partner's pregnancy. The data collection technique used was semi-structured interviews. The content analysis technique with semantic categorization and an inductive approach was used to analyze the data. As a result, 3 topics emerged: "experiencing the transition," "development of the father identity" and "(de)constructing bridges for the transition". This study deepens the understanding of this developmental transition and challenges the restructuring of prenatal care towards the inclusion of the father figure.

Tornar-se pai exige um processo de desenvolvimento pessoal, reorientação interior e adaptação ao novo papel. A literatura sobre este processo tem sido parca, desvalorizando o quão desafiante e problemática pode ser a transição de se tornar pai. Este estudo, de caráter qualitativo, exploratório, descritivo, transversal e retrospetivo procurou compreender as vivências dos homens na transição para a paternidade durante o período pré-natal. Incluiu uma amostra de 10 homens a vivenciar, pela primeira vez, a gravidez da parceira. Recurso à entrevista semiestruturada como técnica de coleta de dados. Análise de dados com técnica de análise de conteúdo, com categorização semântica e abordagem indutiva. Como resultados, emergiram 3 temas: "experienciar da transição", "desenvolvimento da identidade como pai" e "(des)construção de pontes para a transição". Este estudo aprofunda a compreensão desta transição desenvolvimental e desafia a uma reestruturação dos cuidados pré-natais no sentido da inclusão da figura paterna.

Transição para a paternidade no período pré-natal: um estudo qualitativo / Transition to fatherhood in the prenatal period: a qualitative study

Resumo Tornar-se pai exige um processo de desenvolvimento pessoal, reorientação interior e adaptação ao novo papel. A literatura sobre este processo tem sido parca, desvalorizando o quão desafiante e problemática pode ser a transição de se tornar pai. Este estudo, de caráter qualitativo, exploratório, descritivo, transversal e retrospetivo procurou compreender as vivências dos homens na transição para a paternidade durante o período pré-natal. Incluiu uma amostra de 10 homens a vivenciar, pela primeira vez, a gravidez da parceira. Recurso à entrevista semiestruturada como técnica de coleta de dados. Análise de dados com técnica de análise de conteúdo, com categorização semântica e abordagem indutiva. Como resultados, emergiram 3 temas: "experienciar da transição", "desenvolvimento da identidade como pai" e "(des)construção de pontes para a transição". Este estudo aprofunda a compreensão desta transição desenvolvimental e desafia a uma reestruturação dos cuidados pré-natais no sentido da inclusão da figura paterna.

Abstract Becoming a father requires a process of personal development, inner reorientation, and adaptation to a new role. The literature on this process has been sparse, devaluing how challenging and problematic the transition to becoming a father can be. This qualitative, exploratory, descriptive, cross-sectional and retrospective study sought to understand the experiences of men in the transition to fatherhood during the prenatal period. It included a sample of 10 men experiencing, for the first time, a partner's pregnancy. The data collection technique used was semi-structured interviews. The content analysis technique with semantic categorization and an inductive approach was used to analyze the data. As a result, 3 topics emerged: "experiencing the transition," "development of the father identity" and "(de)constructing bridges for the transition". This study deepens the understanding of this developmental transition and challenges the restructuring of prenatal care towards the inclusion of the father figure.

The association of milk and dairy consumption with iodine status in pregnant women in Oporto region.

The role of milk and dairy products in supplying iodine to pregnant women is unknown in Portugal. The aim of this study was to evaluate the association between milk and dairy product consumption and the iodine status of pregnant women in the IoMum cohort of the Oporto region. Pregnant women were recruited between 10 and 13 weeks of gestation, when they provided a spot urine sample and information on lifestyle and intake of iodine-rich foods. Urinary iodine concentration (UIC) was determined by inductively coupled plasma MS. A total of 468 pregnant women (269 iodine supplement users and 199 non-supplement users) were considered eligible for analysis. Milk (but not yogurt or cheese) intake was positively associated with UIC, in the whole population (P = 0·02) and in the non-supplement users (P = 0·002), but not in the supplement users (P = 0·29). In non-supplement users, adjusted multinomial logistic regression analysis showed that milk consumption <3 times/month was associated with a five times increased risk of having UIC < 50 µg/l when compared with milk consumption ≥2 times/d (OR 5·4; 95 % CI 1·55, 18·78; P = 0·008). The highest UIC was observed in supplement users who reported consuming milk once per d (160 µg/l). Milk, but not yogurt or cheese, was positively associated with iodine status of pregnant women. Despite the observed positive association, daily milk consumption may not be sufficient to ensure adequate iodine intake in this population.

Iodine knowledge is associated with iodine status in Portuguese pregnant women: results from the IoMum cohort study.

Lack of knowledge about iodine has been suggested as a risk factor for iodine deficiency in pregnant women, but no studies have addressed this issue in Portugal. So, the aim of this study was to investigate iodine knowledge among Portuguese pregnant women and its association with iodine status. IoMum, a prospective observational study, included 485 pregnant women recruited at Centro Hospitalar e Universitário de S. João, Porto, between the 10th and 13th gestational weeks. Partial scores for knowledge on iodine importance, on iodine food sources or on iodised salt were obtained through the application of a structured questionnaire. Then, a total iodine knowledge score was calculated and grouped into low, medium and high knowledge categories. Urinary iodine concentration (UIC) was measured in spot urine samples by inductively coupled plasma MS. Of the pregnant women, 54 % correctly recognised iodine as important to neurocognitive development, 32 % were unable to identify any iodine-rich food and 71 % presented lack of knowledge regarding iodised salt. Of the women, 61 % had a medium total score of iodine knowledge. Knowledge on iodine importance during pregnancy was positively associated with iodine supplementation and also with UIC. Nevertheless, median UIC in women who correctly recognised the importance of iodine was below the cut-off for adequacy in pregnancy (150 µg/l). In conclusion, knowledge on iodine importance is positively associated with iodine status. Despite this, recognising iodine importance during pregnancy may not be sufficient to ensure iodine adequacy. Literacy-promoting actions are urgently needed to improve iodine status in pregnancy.

Genomic imbalances defining novel intellectual disability associated loci.

BACKGROUND: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). RESULTS: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. CONCLUSIONS: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.

Transition to parenthood: consequences on health and well-being. A qualitative study.

OBJECTIVE: Parenthood is one of the most dramatic developmental transitions in the family life cycle. It requires profound changes in lifestyle, roles and relationships, can increase stress levels and affects both men and women's quality of life. This study aimed to explore the effects on the health and well-being of parents during the first six months of transition to the parental role. METHOD: A qualitative study using the grounded theory approach. Data collection was from semi-structured interviews (total of 60 interviews). The constant comparative method was used and theoretical sampling in the process of data collection and analysis, and the study was undertaken in a simultaneous and cyclical way. Five fathers and five mothers (couples) participated. RESULTS: The category "living on the edge of one's capacities" was described, which is composed of the subcategories "feeling exhaustion", "perceiving exhaustion in the mother", "overflowing emotions" and "feeling less exhaustion", to explain the impact that the birth of a child had on the parents' lives, when taking on all the tasks and responsibilities of parenthood. CONCLUSIONS: Adapting to parenthood is not easy, linear or fast. It involves numerous situations that generate stress and emotional disturbance, linked to tiredness, sleep disturbance, work overload and readjustments of the dynamics of life, which especially affect the mother. Antenatal and postnatal preparation for this impact should, therefore, be encouraged and effective, as a focus of nursing intervention.