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The aim of this paper is to review the early development of adolescent medicine in Portugal.

RESUMO Relato de experiência que apresenta parceria entre o Núcleo de Saúde Mental Álcool e Outras Drogas, o Observatório de Territórios Sustentáveis e Saudáveis da Bocaina e o Fórum de Comunidades Tradicionais de Angra dos Reis, Paraty e Ubatuba, o qual resultou em um projeto de intervenções territoriais e comunitárias em saúde mental em Paraty. O objetivo foi promover intervenções nesse campo considerando aspectos socioeconômicos, ambientais e de saúde, integrando os Objetivos de Desenvolvimento Sustentável e as metas da Agenda 2030. O projeto desenvolveu atividades de diagnóstico, articulação, intervenção e monitoramento, utilizando metodologias como educação popular, educação permanente, pesquisa-ação e sistematização de experiências. Participaram residentes do Programa de Residência Multiprofissional em Saúde Mental, Álcool e outras Drogas da Escola de Governo Fiocruz Brasília, além de um supervisor clínico institucional bolsista, fortalecendo a Rede de Atenção Psicossocial do município. Atividades como reconhecimento do território, rodas de conversa, entrevistas e trabalho em equipe multiprofissional foram realizadas para compreender o sofrimento mental valorizando os saberes comunitários e as tradições. A relação com a rede formal de saúde mental foi estabelecida para implementar o matriciamento e ampliar o acesso ao cuidado em saúde mental nas comunidades.

Inclusion is considered a foundation for quality education, and teachers’ inclusive practices are essential for success in mainstream classrooms. Portugal has been making progressive improvements in its policies for inclusive education, although there is little consistency in school practices within or between schools. Moreover, data identifying the personal and career variables relevant to teachers’ inclusive practices in Portugal are scarce. Therefore, the purpose of this study was to determine the relationship between teachers’ inclusive practices and personal and career-based characteristics, including gender, level of teaching, years of experience, roles performed at school, and perception of inclusive resources. The participants were 924 teachers who worked in private and public schools in Portugal. Regression analysis showed that perceived inclusive resources, level of teaching, and gender predicted variance in inclusive practices. Mean difference analyses revealed that teachers at the lower levels of teaching, females, and teachers reporting more inclusive resources had the highest scores for inclusive practices. These findings are discussed in terms of their practical relevance for inclusive school systems.

The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study’s purpose is to assess the epidemiology of the screened metabolic diseases and to evaluate the impact of second-tier testing (2TT) within the PNSP. From 2004 to 2022, 1,764,830 neonates underwent screening using tandem mass spectrometry (MS/MS) to analyze amino acids and acylcarnitines in dried blood spot samples. 2TT was applied when necessary. Neonates with profiles indicating an IEM were reported to a reference treatment center, and subsequent biochemical and molecular studies were conducted for diagnostic confirmation. Among the screened neonates, 677 patients of IEM were identified, yielding an estimated birth prevalence of 1:2607 neonates. The introduction of 2TT significantly reduced false positives for various disorders, and 59 maternal cases were also detected. This study underscores the transformative role of MS/MS in neonatal screening, emphasizing the positive impact of 2TT in enhancing sensitivity, specificity, and positive predictive value. Our data highlight the efficiency and robustness of neonatal screening for IEM in Portugal, contributing to early and life-changing diagnoses.

Objectives The main goal of this study was to characterise the frequency and phenotype of B, T follicular helper (Tfh) and T follicular regulatory (Tfr) cells in peripheral blood and the cytokine environment present in circulation in children with extended oligoarticular juvenile idiopathic arthritis (extended oligo JIA) and polyarticular JIA (poly JIA) when compared with healthy controls, children with persistent oligoarticular JIA (persistent oligo JIA) and adult JIA patients.Methods Blood samples were collected from 105 JIA patients (children and adults) and 50 age-matched healthy individuals. The frequency and phenotype of B, Tfh and Tfr cells were evaluated by flow cytometry. Serum levels of APRIL, BAFF, IL-1β, IL-2, IL-4, IL-6, IL-10, IL-17A, IL-21, IL-22, IFN-γ, PD-1, PD-L1, sCD40L, CXCL13 and TNF were measured by multiplex bead-based immunoassay and/or ELISA in all groups included.Results The frequency of B, Tfh and Tfr cells was similar between JIA patients and controls. Children with extended oligo JIA and poly JIA, but not persistent oligo JIA, had significantly lower frequencies of plasmablasts, regulatory T cells and higher levels of Th17-like Tfh cells in circulation when compared with controls. Furthermore, APRIL, BAFF, IL-6 and IL-17A serum levels were significantly higher in paediatric extended oligo JIA and poly JIA patients when compared with controls. These immunological alterations were not found in adult JIA patients in comparison to controls.Conclusions Our results suggest a potential role and/or activation profile of B and Th17-like Tfh cells in the pathogenesis of extended oligo JIA and poly JIA, but not persistent oligo JIA.

The debate about inclusive education has gained considerable attention in policy, research, and practice in the last decades. Therefore, there is also a growing interest in assessing how inclusive education occurs in schools. Self-assessment and self-reflection tools are strategic to examine schools’ inclusion and guide needed changes. This study attempts to provide Portuguese schools with self-assessment tools for improvement. Themis Inclusion Tool was translated and adapted into a Portuguese version named Resources and Practices for Inclusive Education and evaluated the instrument’s psychometric structure. A web survey was completed online by 924 participants. An EFA suggested two different factors: Inclusive Resources, human, technical and technological resources used to promote learning and; Inclusive Practices, beliefs and behaviors that can be implemented to promote learning. These two factors were supported by confirmatory analysis. Overall, the Resources and Practices for Inclusive Education presented a robust factorial structure and good psychometric properties, appearing to be a valid and reliable measure for assessing inclusive education in Portuguese schools.

Purpose In adolescents, the definition and clinical implications of metabolically healthy overweight (MHO) status have not been established. This study aimed to investigate the prevalence of MHO according to its most widespread definition, which is based on metabolic syndrome (MS), and to explore further metabolic indicators such as Homeostatic Model Assessment of Insulin Resistance, total cholesterol, low-density lipoprotein cholesterol, alanine aminotransferase, and C-reactive protein levels, together with metabolic health predictors in a sample of adolescents attending a pediatric obesity clinic. Methods Data from 487 adolescents categorized as overweight (52.6% females, 88.1% white), with a mean body mass index (BMI) z-score of 2.74 (±1.07 standard deviation [SD]), and a mean age of 14.4 years (±2.2 SD) were cross-sectionally analyzed. From this original sample, a subsample of 176 adolescents underwent a second assessment at 12 (±6 SD) months for longitudinal analysis. Results From the 487 adolescents originally analyzed, 200 (41.1%) were categorized as MHO, but only 93 (19.1%) had none of the metabolic indicators considered in this study. According to longitudinal analysis, 30 of the 68 adolescents (44%) categorized as MHO at baseline became non-MHO over time. BMI z-score was the best predictor of metabolic health both in cross-sectional and longitudinal analyses. Increased BMI z-score reduced the odds of being categorized as MHO (odds ratio [OR], 0.6; 95% confidence interval [CI], 0.4–0.9; P=.008) and increased the odds of having hypertension (OR 2.1, 95% CI: 1.4–3.3, P=0.001), insulin resistance (OR, 2.4; 95% CI, 1.4–4.1, P=0.001), or a proinflammatory state (OR, 1.2; 95% CI, 1.1–1.3, P=0.002). Conclusions Diagnosis of MHO should not be exclusively based on MS parameters, and other metabolic indicators should be considered. Adolescents categorized as overweight should participate in weight-management lifestyle interventions regardless of their metabolic health phenotype.

Purpose Acanthosis nigricans (AN) is a hyperpigmented dermatosis associated with obesity and insulin resistance (IR). There is no consensus whether AN extension scoring offers added value to the clinical estimation of IR. In this study we aimed to assess and score AN using both a short and an extended version of the scale proposed by Burke et al. and analyze the relationships of both versions with hyperinsulinemia and IR. Methods We analyzed data from 139 overweight adolescents (body mass index ≥85th percentile) aged 12–18 with (n=67) or without (n=72) AN who were followed at a pediatric obesity clinic. Results Adolescents with AN had higher levels of insulin (d=0.56, P=0.003) and HOMA-IR (d=0.55, P=0.003) compared to those without. Neither the short nor the extended versions of AN scores explained either hyperinsulinemia (β=1.10, P=0.316; β=1.15, P=0.251) or IR (β=1.07, P=0.422; β=1.10, P=0.374). The presence of AN alone predicted hyperinsulinemia and the presence of IR in 7.3% (β=2.68, P=0.008) and 7.1% (β=2.59, P=0.009) of adolescents, respectively. Conclusions Screening for AN at the neck and axilla is a noninvasive and cost-effective way to identify asymptomatic overweight adolescents with or at risk of developing IR.

Abstract Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease. Methods In this report, the biochemical and genetic findings performed in 223 patients diagnosed through the Portuguese Neonatal Screening Program (PNSP) are presented. Results Overall, the results show that a high overlap exists between different types of variants and phenylalanine levels. Molecular analyses reveal a wide mutational spectrum in our population with a total of 56 previously reported variants, most of them found in compound heterozygosity (74% of the patients). Intragenic polymorphic markers were used to assess the haplotypic structure of mutated chromosomes for the most frequent variants found in homozygosity in our population (p.Ile65Thr, p.Arg158Gln, p.Leu249Phe, p.Arg261Gln, p.Val388Met, and c.1066‐11G>A). Conclusion Our data reveal high heterogeneity at the biochemical and molecular levels and are expected to provide a better understanding of the molecular basis of this disease and to provide clues to elucidate genotype–phenotype correlations.

Introdução: O tecido adiposo e suas células tem sido amplamente estudados devido à sua relação íntima com a obesidade. Objetivo: Identificar aspectos históricos e relevantes sobre o avanço na compreensão da função metabólica do tecido adiposo, sobretudo quanto ao seu potencial como alvo terapêutico no controle de doenças metabólicas. Materiais e Métodos: Foi feita uma revisão narrativa da literatura, sem restrição de data, priorizando fontes primárias indexadas pela base de dados PubMed. Resultados: As evidências da existência de tecido adiposo com propriedades termogênicas demonstrada em humanos adultos promoveram grande interesse no estudo do tecido adiposo, em razão de seu potencial terapêutico no controle da obesidade. A plasticidade e versatilidade do tecido adiposo são evidenciadas pelos diversos tipos de adipócitos hoje estudados. Os classicamente conhecidos: branco (WAT) e marrom (BAT), e o mais recentemente descoberto: bege (beige/brite), também conhecido como tecido adiposo marrom induzível; além dos adipócitos rosa e os de medula óssea. Enquanto o WAT é responsável por estocar o excesso de energia na forma de lipídeos, estando diretamente relacionado à obesidade, o BAT, por apresentar alta capacidade oxidativa, pode influenciar no aumento da taxa metabólica corporal, reduzindo a obesidade. Nesse contexto, o tecido adiposo bege apresenta dupla função: Comporta-se como o branco, armazenando o excesso de energia ou, quando estimulado (exposição ao frio, estimulação simpática), tem seu programa termogênico ativado, elevando a expressão de UCP1 (Uncoupling Protein-1) a níveis semelhantes aos do tecido adiposo marrom e promovendo maior dissipação de energia. O tecido adiposo se apresenta versátil por se adaptar à diferentes condições metabólicas, em contextos específicos como na lactação, na hematopoiese, por sua atuação como órgão endócrino ou na modulação do metabolismo energético. Conclusão: Assim, a compreensão de aspectos funcionais e moleculares dos adipócitos, nos possibilita identificar novas formas de tratamento para distúrbios metabólicos.

Abstract Background The use of impedance cardiography (ICG) may play a role in the assessment of cardiac effects of hypertension (HT), especially its hemodynamic features. Hypertensive heart disease involves structural changes and alterations in left ventricular geometry that end up causing systolic and/or diastolic dysfunction. The IMPEDDANS study aims to assess the usefulness of ICG for the screening of left ventricular diastolic dysfunction (LVDD) in patients with HT. Methods Patients with HT were assessed by echocardiography and ICG. Receiver-operating characteristic curve and the area under the curve were used to assess the discriminative ability of the parameters obtained by ICG to identify LVDD, as diagnosed by echocardiography. Results ICG derived pre-ejection period (PEP), left ventricle ejection time (LVET), systolic time ratio (STR) and D wave were associated (p

The electron-transfer flavoprotein dehydrogenase gene (ETFDH) encodes the ETF-ubiquinone oxidoreductase (ETF-QO) and has been reported to be the major cause of multiple acyl-CoA dehydrogenase deficiency (MADD). In this study, we present the clinical and molecular diagnostic challenges, at the DNA and RNA levels, involved in establishing the genotype of four MADD patients with novel ETFDH variants: a missense variant, two deep intronic variants and a gross deletion. RNA sequencing allowed the identification of the second causative allele in all studied patients. Simultaneous DNA and RNA investigation can increase the number of MADD patients that can be confirmed following the suggestive data results of an expanded newborn screening program. In clinical practice, accurate identification of pathogenic mutations is fundamental, particularly with regard to diagnostic, prognostic, therapeutic and ethical issues. Our study highlights the importance of RNA studies for a definitive molecular diagnosis of MADD patients, expands the background of ETFDH mutations and will be important in providing an accurate genetic counseling and a prenatal diagnosis for the affected families.

Background Adolescent overweight is a major public health concern, as it is associated with several short-run and long-run adverse health outcomes. Inappropriate health behaviours may be at the front of this epidemic. There is widespread need for new strategies that may positively influence dietary and physical activity behaviours. This trial (NCT02941770) was designed to investigate the impact of a physical activity consultation, based on motivational interview technique, on physical activity behaviour and weight status among overweight adolescents followed at a tertiary paediatric care centre.Methods/Design This is an ongoing non-randomised controlled clinical trial with a 6-month duration and follow-up at month 12. It is expected to be concluded in December 2018. Adolescents (n=129) aged 12–18 with a body mass index ≥p85 are recruited and allocated into three groups: (1) control group: standard care (paediatric and nutrition consultations, n=43); (2) experimental group I: standard care plus physical activity consultation (n=43); and (3) experimental group II: exposure to two sessions/week of structured physical exercise, in addition to the standard care plus physical activity consultations (n=43). Sample size was calculated according to power analysis. Participants undergo a set of socioeconomic, anthropometric, body composition, clinical and behavioural (dietary and physical activity) assessments.Discussion Adolescence is a critical period for the acquisition of a healthy lifestyle. The promotion of an active lifestyle may influence adolescents’ weight status and further prevent multiple comorbidities. The findings of our study will provide further understanding on the impact of a physical activity consultation on physical activity behaviour and weight reduction/maintenance among overweight adolescents.Trial registration number NCT02941770.

OBJECTIVE: Reliable and valid instruments are essential for understanding health-promoting behaviors in adolescents. This study analyzed the psychometric properties of the Portuguese version of the Adolescent Lifestyle Profile (ALP).METHODS: A linguistic and cultural translation of the ALP was conducted with 236 adolescents from two different settings: a community (n = 141) and a clinical setting (n = 95). Internal consistency reliability and confirmatory factor analysis were performed.RESULTS: Results showed an adequate fit to data, yielding a 36-item, seven-factor structure (CMIN/DF = 1.667, CFI = 0.807, GFI = 0.822, RMR = 0.051, RMSEA = 0.053, PNFI = 0.575, PCFI = 0.731). The ALP presented a high internal consistency (a = 0.866), with the subscales presenting moderate reliability values (from 0.492 to 0.747). The highest values were in Interpersonal Relations (3.059 ± 0.523) and Positive Life Perspective (2.985 ± 0.588). Some gender differences were found. Findings showed that adolescents from the clinic reported an overall healthier lifestyle than those from the community setting (2.598 ± 0.379 vs. 2.504 ± 0.346; t = 1.976, p = 0.049).CONCLUSION: The ALP Portuguese version is a psychometrically reliable, valid, and useful measurement instrument for assessing health-promoting lifestyles in adolescence. The ALP is cross-culturally validated and can decisively contribute to a better understanding of adolescent health promotion needs. Additional research is needed to evaluate the instrument's predictive validity, as well as its clinical relevance for practice and research.

OBJECTIVE: The current study evaluates the usability perception of an e-therapeutic platform (supported by electronic processes and communication), aiming to promote the behavior change and to improve the adolescent health status through increased and interactive contact between the adolescent and the clinical staff. METHODS: This was a correlational study with a sample of 48 adolescents (12-18 years) who attended a Pediatric Obesity Clinic between January and August of 2012. Participants were invited to access, during 24 weeks, the e-therapeutic multidisciplinary platform (Next.Step) in addition to the standard treatment program. A usability questionnaire was administered and the platform performance and utilization indicators were analyzed. RESULTS: The users' perception of satisfaction, efficiency, and effectiveness regarding the Next.Step platform was clearly positive. However, only 54.17% of the enrolled adolescents accessed the platform, with a mean task-completion rate of 14.55% (SD = 18.853). The higher the number of the platform consulted resources, the greater the tendency to enjoy the platform, to consider it exciting and quick, to consider that the time spent in it was useful, to consider the access to information easy, and to login easier. Post-intervention assessment revealed a significant reduction in anthropometric and behavioral variables, including body mass index z-score, waist circumference percentile, hip circumference, and weekly screen time. CONCLUSION: These results highlight the importance of information and communication technologies in the health information access and the healthcare provision. Despite the limited adherence rate, platform users expressed a positive overall perception of its usability and presented a positive anthropometric and behavioral progress.

INTRODUÇÃO: A prevalência de ingestão alimentar compulsiva é especialmente elevada nos adolescentes obesos que procuram tratamento para perder peso, e parece estar associada a piores resultados. O objetivo deste estudo foi estimar a prevalência de ingestão alimentar compulsiva e sua associação com o índice de massa corporal (IMC), nos adolescentes obesos na primeira consulta de obesidade num centro de referência. Estudámos também a ocorrência de perda de controlo alimentar, a evolução do IMC e a associação com outros comportamentos alimentares disfuncionais. MÉTODOS: Foi utilizado o questionário Obesity Disordered Eating Questionnaire. A ingestão alimentar compulsiva foi definida pela presença de episódios de ingestão alimentar associados a perda de controlo, pelo menos uma vez por semana. RESULTADOS: A amostra incluiu 64 adolescentes com média de idades de 14,7 ± 1,5 anos. O z-score do IMC variou entre 1,65 e 2,95. A prevalência estimada de ingestão alimentar compulsiva foi de 23,4%. Reportaram perda de controlo 53% dos adolescentes. Não se encontrou associação entre a ocorrência da ingestão alimentar compulsiva e os z-scores do IMC mais elevados. Entre a primeira e a segunda consulta houve uma diminuição do IMC no grupo com ingestão alimentar compulsiva inferior à verificada no grupo sem ingestão alimentar compulsiva, mas não estatisticamente significativa. Os adolescentes com ingestão alimentar compulsiva tiveram scores mais elevados na escala de comportamentos alimentares disfuncionais. DISCUSSÃO E CONCLUSÃO: Os resultados deste estudo confirmam a ingestão alimentar compulsiva como um problema prevalente em adolescentes obesos que procuram tratamento para perder peso, sendo importante a sua identificação e monitorização.

Trabalho foi desenvolvido durante a disciplina “Geografia do Brasil”, do curso de Geografia e História da PUCRS, ministrada pelo professor General Amyr Borges Fortes. Dividido em: Relações fisiográficas; Estudo étnico e histórico do Homem; Ambiente social; Distribuição da propriedade rural na Bacia do São Francisco; Cidades; Cultura.

Na idade dos "11 aos 13" as transformações pubertárias acompanham a transição para o mundo das descobertas e da construção da autonomia. Tendo como base o Boletim de Saúde Infantil e Juvenil, os autores apresentam vários aspectos que devem ser contemplados pelo profissional de saúde quando da observação de um adolescente desta idade. São abordados os aspectos a englobar na anamnese através da utilização do acrónimo HEEADSSSSS, com o objectivo de avaliar os contextos de vida do adolescente e perceber qual o seu desenvolvimento cognitivo e psicossocial.

O objectivo deste artigo é o de examinar o modo como a epidemiologia, o diagnóstico, as complicações médicas e nutricionais, as questões psicológicas, o tratamento e o prognóstico dos adolescentes com uma Perturbação do Comportamento Alimentar diferem dos dos adultos, sobretudo no que respeita à prevenção e às questões ligadas com o desenvolvimento que caracterizam este período.

Overweight is an extra burden for adolescent development and can trigger severe physical and psychosocial problems. This cross-sectional correlational study aimed to analyze the association between treatment adherence and obesity-related quality of life among overweight adolescents. The sample consisted of 94 adolescents attending a specialized Pediatric Obesity Clinic in Portugal, 48.94% of whom were boys and 51.06% girls, with a median age of 14.17 years (SD = 1.51). A positive correlation was found between obesity-related quality of life and adherence to weight control. The influence of parents and caregivers on the adherence to weight control is significantly associated with increased physical comfort, better social life and family relations. These results highlight the importance of behavioral change and adherence to weight control as pillars of a better quality of life among overweight adolescents. Obesity management programs need to focus on multiple criteria of treatment effectiveness, such as obesity-related quality of life.