Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

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.

From Policies to Practices: Factors Related to the Use of Inclusive Practices in Portugal.

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.

Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MS.

INTRODUCTION: The Portuguese Neonatal Screening Programme (PNSP) identifies patients with rare diseases through nationwide screening. Currently, 27 diseases are diagnosed, amongst which are 24 Inborn Errors of Metabolism (IEM), covering approximately 100% of neonates (1). In 2004, the national laboratory implemented a new screening method, tandem mass spectrometry (MS/MS) to test for amino acids and acylcarnitines. This new protocol revolutionized the PNSP and allowed for the analysis of an increased number of IEM, with clear improvements in treatment timings and clinical outcomes (2). METHODS: From 2004 to 2022, 1 764 830 neonates were screened with MS/MS technology. Those who displayed biochemical profiles indicating an IEM were subjected to molecular characterization via genomic DNA extraction, PCR amplification, and direct Sanger sequencing method of dried blood spot samples. RESULTS/CASE REPORT: A cohort of 681 newborns were diagnosed with an IEM. MCAD deficiency is the most frequent, with 233 confirmed diagnoses, showing predominantly c.985A>G (p.K329E) mutation of the ACADM gene in homozygosity. Approximately 1/3 of the 33 confirmed cases of Glutaric Aciduria type I present homozygous for the c.1204C>T (p.Arg402Trp) mutation in GCDH. Around 60% of cases of MAT II/III deficiency display the dominant mutation of the MAT1A gene, c.791G>A (p.Arg264His). These genetic profiles and others were determined as diagnostic confirmation for 24 of the IEM screened. CONCLUSION: This data shows the molecular epidemiology of patients with confirmed IEM diagnosis identified by neonatal screening. Some diseases out of the scope of the PNSP were also detected as a differential diagnosis after biochemical suspicion in the dried blood spot sample. The retrospective analysis of the PNSP allows for an overview of 18 years of achievements accomplished by the national screening for IEM since MS/MS was implemented. For some pathologies with low incidence, it's difficult to trace a discernible pattern. However, presenting de novo mutations for these diseases might provide insights on how to approach different phenotypes. The aim of this work is to establish the molecular epidemiology of metabolic diseases screened.

Pilot Study on Newborn Screening for Spinal Muscular Atrophy.

INTRODUCTION: Newborn screening (NBS) in Portugal is a significant public health measure to provide early detection for specific disorders so that early treatment is possible. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. Its incidence is estimated in 1.6000-11.800 live births. A pilot study on 100.000 newborns is being carried out at the neonatal screening laboratory with the aim of determining the specificity, sensitivity, and feasibility of the SMA screening at the NBS laboratory in Portugal. METHODS: The study presented here was based on data obtained from neonatal screening, involving the analysis of 25.000 newborns. SMA screening is performed by a qualitative detection of exon 7 of the SMN1 gene. The assay was performed using a commercially available real-time PCR, the Eonis SMN1, TREC, and KREC kit. RESULTS/CASE REPORT: The dried blood spots of a total of 25.000 newborns were tested; among these newborns, two were diagnosed as having SMA with survival motor neuron 1 (SMN1) deletion. These two SMA-positive samples were sent to a specialized clinical centre and a peripheral blood sample was sent to the reference laboratory for confirmation of the exon 7 deletion and determination of the SMN2 copy number. CONCLUSION: Early diagnosis and intervention are important for SMA treatment to be effective; the treatment should be started at the pre-symptomatic stage of SMA. Thus, newborn screening for SMA is strongly recommended. Currently, targeted therapies for SMA are available, and attempts are being made worldwide to include SMA screening in newborns.

Children with extended oligoarticular and polyarticular juvenile idiopathic arthritis have alterations in B and T follicular cell subsets in peripheral blood and a cytokine profile sustaining B cell activation.

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-1ß, 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.

Vigorous physical activity: A potential ally in adolescent obesity management.

Individual variability may contribute to the modest and inconsistent results reported in obesity-management interventions. This study aimed to investigate the impact of non-modifiable as well as modifiable factors on body mass index (BMI) and body fat variance in adolescents with obesity followed in a clinical obesity-management programme, in order to better understand individual variability. Non-modifiable factors (i.e. socio-economic status, pregnancy BMI, weight progression across pregnancy, BMI at time of delivery, way of delivery, birth weight, breastfeeding duration, age at overweight onset, overweight duration, and FTO rs9939609 polymorphism) and modifiable factors data (i.e. self-determination level, self-efficacy and perception of importance to lose weight, energy intake, physical activity, and sedentary behaviours) from 63 adolescents (93.7% Caucasian, 55.6% girls), with a median age of 15.0 (2.5) years, and a median BMI z-score of 2.88 (0.70), followed for 6 months were analyzed. BMI z-score variance was predicted by vigorous physical activity (VPA) (F(1,57) = 4.55, p = .039), overweight duration (F(1,59) = 5.61, p = .022), way of delivery (F(2,58) = 6.55, p = .003) and self-determination level (F(1,59) = 4.75, p = .034). VPA further predicted body fat mass (%) (F(1,57) = 9.99, p = .003) as well as trunk fat mass variance (F(1,57) = 8.94, p = .006). This study suggests that although both non-modifiable and modifiable factors influence BMI and body fat variance to some extent, in adolescents with obesity, VPA (modifiable factor) stands out as the factor with the best association with both outcomes. VPA may be a potential ally in the success of clinical obesity management in adolescents, and so should be emphasised in this population.HighlightsThere is a huge individual variability within studies in response to adolescent obesity-management interventions.Both non-modifiable and modifiable factors may influence body mass index (BMI) and body fat variance, influencing interventions' outcomes.The predictive value of both non-modifiable and modifiable factors largely overlaps, making lighter the burden of the former and highlighting the value of lifestyle changes.Among modifiable factors, vigorous physical activity standouts as the factor with the best (negative) association with BMI and body fat variance.

Combined high-intensity interval training as an obesity-management strategy for adolescents.

Effective and safe exercise protocols for obesity management in adolescents are imperative. This study aimed to analyse compliance, efficacy, and safety of combined high-intensity interval training circuit (HIIT) in the management of obesity (including overweight) in adolescents, compared to traditional training (TT). Data from 55 adolescents (47.3% girls) (TT n = 31; HIIT n = 24), aged 12-18 (mean age of 14.3 ± 1.7), with overweight and obesity (median BMI z-score of 2.95), were assessed at baseline and month 6 (Clinicaltrials.gov/NCT02941770). During the 6-month intervention, participants in both exercise groups attended two exercise sessions/week (60 min/session) along with a set of appointments with a paediatrician, nutritionist, and exercise physiologist. Forty-six participants completed the intervention (TT n = 23; HIIT n = 23). Exercise session attendance (≥80%) was significantly higher among HIIT participants (73.9 vs. 13.0%, p < .001). HIIT, but not TT, showed a significant decrease in BMI z-score (d = 0.40, p < .001), body fat mass (BFM, %) (d = 0.41, p = .001), and trunk fat mass (d = 0.56, p < .001), as well as a significant increase in muscle mass (MM, %) (d = 0.28, p = .001) between baseline and 6 months. According to generalized estimating equations, time-by-attendance interactions (instead of time-by group) were found in BMI z-score (ß = 0.25, 95%CI: 0.17, 0.33), BFM (ß = 2.29, 95%CI: 1.02, 3.56), trunk fat mass (ß = 2.94, 95%CI: 1.70, 4.18), and MM (ß = -1.16, 95%CI: -1.87, -0.45). No adverse events were reported during HIIT sessions. Although compliance may mediate the impact of an exercise protocol on health-related outcomes, HIIT showed to be safe, with higher compliance compared to TT, which may result in improved outcomes overtime.

The state of adolescent medicine as a specific field: an international exploratory survey.

OBJECTIVES: The emergence of adolescent medicine (AM) as a specific area of training and health care delivery is progressing at various pace around the world. The objective of this exploratory survey was to inquire about the existence of official bodies and institutions offering recognition of the discipline as a specific field and on the status of related training initiatives. METHODS: A questionnaire was spread among a convenience sample of 21 colleagues involved in adolescent health care around the world, and answers were collected and analysed manually. RESULTS: All 21 colleagues from the North and South American, African, Asian and European regions have responded. Only seven countries report the existence of adolescent inpatient wards in some hospitals, while 16 have specialized outpatient clinics; in only eight countries is formal mandatory training in AM required for paediatricians; in seven others, such a stay is available but optional. Six countries have implemented a systematic assessment tackling AM in the certification process of paediatricians and just four recognize AM as a sub-specialty. Only two countries mention compulsory training in AM for family doctors. Fourteen countries report on the existence of an AM association. CONCLUSIONS: Despite an encouraging number of initiatives testifying the growing place of AM in the practice of medicine, our data bring a worrisome portray of the status of AM in the involved countries and call for the development of appropriate health care and training centres.

Atherosclerosis Prevention in Adolescents with Obesity: The Role of Moderate-Vigorous Physical Activity.

Carotid intima-media thickness (cIMT) is a subclinical marker of atherosclerotic development, which is impaired in adolescents with obesity. This study aimed to analyze the impact of physical activity (PA), cardiorespiratory fitness (CRF), body mass index (BMI), and body composition changes on the cIMT of adolescents with obesity. Longitudinal data (6 months) from adolescents aged 12-18 years, with a BMI ≥97th percentile, previously recruited for the non-randomized controlled trial PAC-MAnO (Clinicaltrials.gov-NCT02941770) were analyzed using partial correlations controlling for sex and pubertal status and multiple regressions. A total of 105 adolescents (51.4% girls, 86.7% Caucasian), 14.8 ± 1.8 years old, with a BMI z-score of 3.09 ± 0.74 were included. Total body fat mass (TBFM) (F(1,91) = 23.11, p < 0.001), moderate-vigorous PA (MVPA) (F(1,91) = 7.93, p = 0.0006), and CRF (mL/kg/min) (F(1,90) = 19.18, p < 0.001) predicted cIMT variance with an R2 of 0.24, 0.09, and 0.23, respectively. MVPA changes showed a high correlation with CRF variation (r(91) = 0.0661, p < 0.001). This study suggests that although cIMT is impaired in overweight adolescents, improvements in TBFM, MVPA, and CRF are associated with cIMT improvement. Although both energy intake and MVPA may influence TBFM, MVPA plays the most relevant role in cIMT development due to its direct association with CRF.

The effect of a physical activity consultation in the management of adolescent excess weight: Results from a non-randomized controlled trial.

The value of physical activity (PA) counselling and its impact on PA behaviour and weight management have been in question. The main aim of this study was to analyse 6 and 12-month effects of a PA consultation (PAC-a structured form of PA counselling) with and without the inclusion of structured exercise, on body mass index (BMI) z-score, body composition and PA levels of adolescents with excess weight (BMI ≥p85), as part of a clinical multicomponent weight management program. Participants were allocated at baseline into a control (CG-standard care, including paediatric and nutrition consultations) and two experimental groups (EGI and EGII). Both EG's were exposed to standard care plus PAC for 12 months. During the first 6 months, EGII additionally participated in two weekly exercise sessions. From 165 participants recruited, 102 completed the intervention (CG n = 28, EGI n = 36 and EGII n = 38). According to generalized estimating equations, at 6 months both EG's improved (p < 0.05) their BMI z-score, waist-height ratio (WHtR), body fat mass, skeletal muscle mass, sedentary time and moderate-vigorous PA (MVPA) compared to CG. Further improvements were observed in BMI z-score between 6 and 12 months in EG's compared to CG. At 6 months, EGII showed a higher (p < 0.05) increase in MVPA compared to EGI, and EGI a higher decrease in WHtR. No other differences were found between EG's. This study suggests that PAC is a time-effective approach to improve BMI z-score, body composition and PA levels in adolescents with excess weight, even without the inclusion of structured exercise.

Role of RNA in Molecular Diagnosis of MADD Patients.

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.

Adolescent medicine during specialized paediatric training: the past, the present and the future.

OBJECTIVES: Paediatricians increasingly need to take care of adolescents, a life stage with specific needs, however many of them admit a limitation in their medical education regarding Adolescent Medicine. The objective of this paperwork is to evaluate the formative model adopted in the Department of Paediatrics, Hospital de Santa Maria, and assess the impact of the training in Adolescent Medicine. METHODS: We surveyed the current Paediatric Residents and those who graduated as Paediatricians from the Department in the past five years, in order to get feedback on the one-month compulsory training at the Adolescent Medicine Division during their Residency. RESULTS: Both groups considered it as a very interesting/useful training. Paediatricians considered that the training had an insufficient duration, with statistical difference comparing to the current Residents' opinion. Conversely, Residents considered more often that the acquired competencies would be useful in their future clinical practice, when compared to Paediatricians. CONCLUSIONS: In order to potentiate learning and training during such a short period of time, a few changes were identified as beneficial to be implemented.

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

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.

Why are certain age bands used for children in paediatric studies of medicines?

Rational prescribing of medicines requires evidence from clinical trials on efficacy, safety and the dose to be prescribed, based on clinical trials. Regulatory authorities assess these data and information is included in the approved summary of product characteristics. Regulatory guidelines on clinical investigation of medicinal products in the paediatric population generally propose that studies are done in defined age groups but advise that any classification of the paediatric population into age categories is to some extent arbitrary or that the age groups are intended only as a guide. The pharmaceutical companies tend to plan their studies using age groups the regulatory guidelines suggest, to avoid problems when applying for marketing authorisation. These age bands end up in the paediatric label, and consequently into national paediatric formularies. The age bands of the most commonly used age-subsets: neonates, infant/toddlers, children and adolescents, are more historical than based on physiology or normal development of children. Particularly problematic are the age bands for neonates and adolescents. The age of 12 years separating children from adolescents, and the upper limit of the adolescents set by the definition of paediatric age in healthcare, which varies according to the region, are particularly questionable. Modern pharmacometric methods (modelling and simulation) are being increasingly used in paediatric drug development and may allow assessment of growth and/or development as continuous covariables. Maybe time has come to reconsider the rational of the currently used age bands.

[Portuguese Newborn Screening Program.] / Programa portugués de cribado neonatal.

The Portuguese Newborn Screening Program is a public health program that started in 1979, screening for PKU, being totally supported by public funds. It's a non-mandatory well implemented program that testes about 99.9% of Portuguese newborns. In the actual screening panel encompasses 26 disorders, including inborn errors of metabolism, congenital hypothyroidism and cystic fibrosis. Sample collection is advised to be made at 3rd day of life and treatment begins in average by the 10th day. Every testes are performed in one single national laboratory, that processes about 88,000 samples/year. In the 41 years of program existence, more than 3,800,000 newborns were screened and 2,130 affected newborns detected, reflecting the positive impact of the Program in the population. Future perspectives include the increase of program value in terms of public health by optimizing the screening of the disorders already screened and evaluation the possibility of adding others.

El Programa Portugués de Cribado Neonatal es un programa de Salud Pública a nivel nacional, que tuvo su inicio en 1979 con el cribado de la fenilcetonuria y es financiado totalmente por el Estado portugués. Se trata de un programa no obligatorio, con una tasa de cobertura del 99,8%, en el que hoy en día se criban veintiséis enfermedades, incluyendo metabolopatías, hipotiroidismo congénito y fibrosis quística. La toma de muestra se hace al 3er día de vida y el tratamiento de los neonatos afectos empieza en torno al 10º día. Todos los análisis están centralizados en un único laboratorio, que procesa aproximadamente 88.000 muestras al año. En los últimos cuarenta y un años se cribaron más de 3.800.000 neonatos y se detectaron 2.130 niños afectados, lo que es un indicador del impacto del programa en la población. Los desafíos futuros incluyen la búsqueda de nuevas estrategias para incrementar el valor del programa, donde se evalúen nuevas enfermedades a cribar y la optimización del cribado actual.

Life-stage factors associated with overweight severity in adolescents.

BACKGROUND: Investigating life-stage factors associated with overweight may be useful in the prevention of excessive BMI increase. The main aim of this study was to investigate the influence of the route of delivery, birth weight and overweight onset on overweight severity in a sample of overweight adolescents followed at a Pediatric Obesity Clinic. METHODS: Clinical data from 412 adolescents with overweight (BMI ≥ p85), aged 10-18 were retrospectively collected and analyzed. RESULTS: Adolescents born by cesarean section (CS) showed a lower age of overweight onset, compared to other methods of delivery (d= 0.33, p= .009). Birth weight was positively associated with BMI z-score (r=.164, p= 002) and waist circumference (WC) (r=.191, p=.001). The overweight onset was negatively associated with BMI z-score (r= -.277, p < .001), WC (r= -.270, p < .001) and body fat mass (r= -.199, p=.001). Overweight duration was the best predictor of BMI z-score, explaining in 75% its variation (F=1,317)=26.94, p < .001), which increased to 99% when birth weight was included in the model (F(2,316)=18.47, p < .001). CONCLUSIONS: This study suggests that lifestyle may interrupt the burden of CS on BMI z-score throughout growth. Moreover, increased birth weight may anticipate overweight onset, and consequently overweight duration in the presence of inadequate lifestyle behaviors.

Metabolically healthy overweight adolescents: definition and components.

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). CONCLUSION: 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.

Integração ensino serviço na Atenção Básica: um olhar através do PMAQ-AB e PET-Saúde / Teaching service integration in Primary Care: a look through PMAQ-AB and PET-Saúde

Este trabalho tem como objetivo analisar a integração ensino serviço a partir dos resultados das Equipes de Saúde da Família, que participaram de dois ciclos do Programa de Melhoria e Acesso da Qualidade da Atenção Básica (PMAQ-AB). Parte-se de uma revisão de literatura sobre políticas de atenção básica e de integração ensino-serviço no Brasil. A questão norteadora foi compreender quais ações de integração ensino-serviço foram desenvolvidas nas EqSF e se a presença de estudantes nessas equipes, resultou em mudanças no processo de trabalho, principalmente as que foram campo de prática do PET-Saúde. É um estudo descritivo exploratório de abordagem quantitativa, por levantamento de dados de bases secundárias e, qualitativa, com a realização de um estudo de caso, através de entrevistas semiestruturadas, com gestores e profissionais de saúde de municípios da região do Médio-Paraíba, do Estado do Rio de Janeiro. Inicialmente foram analisadas as informações a partir de algumas variáveis (processo de trabalho, integração ensino-serviço e educação permanente), presentes no Módulo II da etapa de Avaliação Externa do PMAQ-AB, onde foi apontada a presença dessas atividades no Brasil e no Estado do Rio de Janeiro. Sendo posteriormente, realizado um estudo de caso em municípios da Região Médio Paraíba no Estado do Rio de Janeiro. O estudo revelou a importância do trabalho colaborativo entre a gestão de saúde e das instituições de ensino, entre profissionais de saúde, docentes e tutores, bem como revelou que a reflexão das práticas impulsionadas pelo PET-Saúde e da Saúde da Família, é essencial para a formação e o aperfeiçoamento de profissionais para a Atenção Básica.

This work aims to analyze the integration between teaching and service based on the results the Primary Health Care Teams, who participated in two cycles of the Programa Nacional de Melhoria do Acesso e da Qualidade (PMAQ-AB). It starts with a literature review on primary care policies and teaching-service integration in Brazil. The guiding question was to understand which teaching-service integration actions are developed in the EqSF and whether the presence of students in these teams resulted in changes in the work process, especially those that were the field of practice of PET-Saúde. It is a descriptive exploratory study with a quantitative approach, by collecting data from secondary databases and, qualitative, through a case study, with semi-structured interviews, with managers and health professionals from municipalities in the Médio Paraíba region, in state of Rio de Janeiro. Initially, information was analyzed from some variables (work process, teaching-service integration and permanent education), present in Module II of the External Assessment stage of the PMAQ-AB, where some results of these activities were found in Brazil and in the state of Rio de Janeiro. Subsequently, a case study was conducted in municipalities in the region Medio Paraíba in the State of Rio de Janeiro. The study revealed the importance of collaborative work between health management and educational institutions, between health professionals, teachers and tutors, as well as revealing that reflection on the practices driven by PET-Saúde and Saúde da Família is essential for the training and improvement of professionals for Primary Care.

Social media and children: what is the paediatrician's role?

Social media use has become an integral part of children's and adolescents' lives. It has become a novel way of interaction among people and influences people's social lives and public opinion as well as people's purchasing decisions and businesses. Any website or platform that allows social interaction is considered to be a social media site. Social media use among children in 25 European countries has been reported to be 38% among 9-12 year olds and 77% among those aged 13-16 years. All these children report having their own profile on at least one social network site. While social networking provides children and adolescents with many opportunities and benefits, it also carries many risks. Among the benefits are socialization and communication enhancement, improving learning skills, positive impact on education and getting health information. Potential risks of social media use include falsifying age and identity, cyberbullying, sexting, Facebook depression, gamification, glamourization, cyberostracism and sleep disturbances.Conclusion: Paediatricians play a vital role in promoting the physical, mental and social welfare of all children. There is a critical need for paediatricians to play an active role, guiding children and families appropriately through the impact of social networking, in order to become a real driver of children's development.

Acanthosis nigricans as a clinical marker of insulin resistance among overweight adolescents.

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 (ß=1.10, P=0.316; ß=1.15, P=0.251) or IR (ß=1.07, P=0.422; ß=1.10, P=0.374). The presence of AN alone predicted hyperinsulinemia and the presence of IR in 7.3% (ß=2.68, P=0.008) and 7.1% (ß=2.59, P=0.009) of adolescents, respectively. CONCLUSION: 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.