Dietary content and combined training, but not daily physical activity, are associated with 6-month bone mineral changes in adolescents with obesity: A Secondary analysis of the PAC-MAnO trial.

PURPOSE: The present study aimed to explore the influence of diet and physical activity (PA) changes on bone mineral content (BMC) and density (BMD) alterations in adolescents with obesity undergoing a weight loss program. METHODS: Six-month longitudinal data from 71 adolescents (aged 15.1 [± 1.6] years; 57.7% girls) with a BMI z-score of 3.03 (± 0.78), previously recruited for the PAC-MAnO trial, were analyzed using Generalized Estimation Equations for over time changes and linear regressions with BMC, BMD and BMD z-score as dependent variables, adjusting for confounders (including type of exercise- aerobic vs. combined). RESULTS: Adjusting for confounders, changes in carbohydrate (CH) and protein content showed to positively and negatively predict BMD z-score variance, respectively (ß = 0.44, 95%CI: 0.01, 0.04, p < .001); ß = -0.57, 95%CI: -0.06, -0.03, p < .001), yet no associations were found between PA and bone-related parameters. Combined exercise showed better results on BMC compared to aerobic exercise (ß = 0.09, 95%CI: 0.05 to 0.13, p < .001). CONCLUSIONS: Increased CH content, instead of protein, may be associated with BMD improvements in adolescents with obesity. Type of exercise may moderate the impact of PA on bone health. TRIAL REGISTRATION: Clinicaltrials.gov NCT02941770. What is Known • Adolescents with obesity may be at a higher risk of osteopenia/osteoporosis • Obesity and inadequate diet and physical activity (PA) may have an adverse effect on bone metabolism What is New • Improvements in adiposity and muscle mass and increased diet carbohydrate content are associated with bone mineral density (BMD) improvements • Type of exercise (i.e., combined training vs. aerobic) may moderate the impact of PA on BMD, and calcium intake may mediate this impact.

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.

Anthropometric outcomes of a motivational interviewing school-based randomized trial involving adolescents with overweight.

Motivational interviewing (MI) is an effective method to promote weight loss that can be delivered by non-mental health providers. The aim of this study was to evaluate whether MI was superior to conventional counseling to improve the anthropometric outcomes of adolescents with obesity/overweight. It was a controlled cluster randomized trial with parallel design in a school setting. The study included two groups: Motivational Interviewing Group (MIG) and control group (Conventional Intervention Group, CIG). Students participated in three face-to-face 30-min interviews, 3 months apart. Outcomes were BMI z-score, abdominal circumference, percentages of fat mass and muscle mass, and blood pressure. Sessions were coded with the Motivational Interviewing Treatment Integrity (MITI) manual. Mixed repeated-measures ANOVAs were used to assess the group versus time interaction. Effect sizes were calculated for each ANOVA with eta-squared measures (η2). Eighty-three adolescents finished the protocol. While MIG participants showed a significant improvement in all anthropometric scores at 6 months, CIG participants showed an unfavorable change in those variables.Conclusion: Our results provide additional evidence of the short-term usefulness of a school-based MI intervention on anthropometric outcomes of adolescents with obesity/overweight, demonstrating that pediatricians can play an important role in the prevention and management of pediatric obesity.Trial registration: The study is called IMAGINE and is registered in Clinicaltrials.gov with the number NCT02745795. What is Known: • Although MI has been recognized as an effective counseling style for behavioral change in weight loss, there are few reports about the anthropometric outcomes of interventions with adolescents being treated for obesity/overweight. • Our study showed significant positive changes in anthropometric variables (BMI z-score, abdominal circumference, percentage of fat mass, percentage of muscular mass, systolic and diastolic blood pressure) after only three face-to-face sessions over 6 months. What is New: • MI delivered by non-mental health providers in a school setting seems to have short-term usefulness in a program aiming the treatment of obese/overweight adolescents.

Paediatric departments need to improve residents' training in adolescent medicine and health: a position paper of the European Academy of Paediatrics.

In many European countries, paediatric junior staff has no formal training in adolescent medicine and is ill-equipped to deal with issues and health problems such as substance use, unprotected sex, eating disorders and transition to adult care. This position paper of the European Academy of Paediatrics proposes a set of competency-based training goals and objectives as well as pedagogic approaches that are expected to improve the capacity of paediatricians to meet the needs of this important segment of the paediatric population. The content has been developed from available publications and training programmes and mostly covers the generic aspects of adolescent healthcare, such as how to communicate effectively, how to review and address lifestyles, how to perform a respectful and relevant physical examination, how to address common problems of adolescents and how to support adolescents in coping with a chronic condition. CONCLUSION: The European Academy of Paediatrics urges national bodies, paediatric associations and paediatric teaching departments to adopt these training objectives and put them into practice, so that paediatricians will be better prepared in the future to meet the challenge of delivering appropriate and effective healthcare to adolescents.

Cross-sectional study showed psychosocial variables, gender and family involvement played an important role in an adolescent weight management programme.

AIM: This study aimed to investigate the psychosocial gains perceived by overweight adolescents attending a 12-week weight management programme and to analyse gender-specific differences. METHODS: A quantitative cross-sectional study was conducted with a sample of 70 overweight adolescents aged between 12 and 18 (52.9% girls), evaluated at baseline and at week 12 using anthropometric measurements and self-reported questionnaires. We analysed gender-specific differences related to body self-esteem, social life, relationships with their family, physical comfort, health responsibility, perceived benefits of the intervention, self-efficacy and adherence. We further investigated whether the variables at week 12 would predict changes in their body mass index. RESULTS: While weight had a greater impact on the body self-esteem of girls, both at baseline and week 12, boys reported higher self-efficacy and adherence as well as a greater perception of the benefits of the intervention at week 12. The body mass index change was positively associated with body self-esteem, relationships within the family and self-efficacy and adherence. CONCLUSION: Gender specifics and the role of psychosocial variables must be taken into account during weight management programmes for adolescents, and it is important to include the family throughout the entire process.

Physical activity and cardiorespiratory fitness, but not sedentary behavior, are associated with carotid intima-media thickness in obese adolescents.

UNLABELLED: This study aimed to analyze the associations between sedentary behavior, physical activity (PA), and cardiorespiratory fitness (CRF), with carotid intima-media thickness (cIMT), a marker of atherosclerosis already present at an early stage among obese adolescents. The associations between anthropometric measures, sedentary time, PA, CRF, and cIMT of 54 Caucasian obese adolescents were analyzed using partial correlations (controlling for age and sex) and multiple linear regressions. Differences between participants with and without a healthy CRF were also analyzed using independent sample t test. Sedentary time did not correlate with any of the variables. Light physical activity correlated positively with mean cIMT (r(38) = 0.36, p = 0.024). Moderate physical activity (MPA) correlated positively with both mean (r(38) = 0.37, p = 0.018) and maximum (r(38) = 0.33, p = 0.039) cIMT. CRF was inversely associated with mean cIMT (r(40) = -0.36, p = 0.019), even when controlling for sedentary time (r(37) = -0.35, p = 0.030). The best predictors of cIMT were MPA and weight. No significant differences in cIMT were found between participants with healthy and unhealthy CRF. CONCLUSION: Although we need to be cautious due to the limitations of the study, the results suggest that despite the importance of decreasing sedentary time, increasing PA intensity may be more effective in improving endothelial structural health among obese adolescents.

Controlled trial of an Internet-based intervention for overweight teens (Next.Step): effectiveness analysis.

Adolescent obesity is a major health problem. The need for effective adolescent weight management programs is of high clinical and public health relevance. This study evaluates the effectiveness of an e-therapeutic platform (Next.Step), aiming to promote weight management skills and the adoption of health-promoting lifestyles. This nonrandomized clinical trial with control group uses a sample of 94 adolescents who attended a paediatric obesity clinic. The experimental group was invited to access the platform Next.Step during 24 weeks, in addition to the standard treatment program. The control group followed the standard treatment protocol and joined a waiting list. Overall, the outcomes of the e-therapeutic program were not substantially better than those obtained with a traditional kind of intervention despite the intervention being associated with an improved health responsibility score (d = 0.51; p = 0.014). Several predictors of the Next.Step effectiveness were found. CONCLUSION: Although the e-therapeutic program led to a significant increase in health responsibility, inconclusive results were found regarding the program effectiveness compared to the standard multidisciplinary intervention. The lack of significant differences between groups may be due to the reduced rates of program adherence and the high dropout rate. WHAT IS KNOWN: • Adolescent obesity has reached epidemic proportions, and standard treatment programs have been unable to achieve the desired adherence so far. • Internet-based programs have already shown positive results in the adult obese population, but information is scarce regarding adolescents. WHAT IS NEW: • This study assesses the effectiveness of a structured case management program including communication technologies on both the behavioural change and the health of obese adolescents. • The e-therapeutic program led to an increase in health responsibility.

Anti-Mullerian hormone and insulin resistance in polycystic ovary syndrome.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a prevalent disease affecting women of reproductive age. It may be associated with metabolic disorders such as insulin resistance (IR) and obesity. The anti-Mullerian hormone (AMH) levels seem to be higher in patients with PCOS. OBJECTIVE: The present study was designed to evaluate the association between AMH and insulin in women with PCOS with and without IR. METHODS: Cross-sectional study, including 86 patients, selected and divided into three groups: Group A: 26 women with PCOS and IR; Group B: 30 women with PCOS and without IR; and Group C: 30 controls without PCOS. RESULTS: We found significant difference between serum AMH levels in the group of women with PCOS and without IR when compared to the control group, thus showing that PCOS and IR play an important role in elevating the levels of this hormone. When the groups were compared with each other following adjustment for BMI, serum AMH levels were significantly higher in the group of women with PCOS and IR. CONCLUSION: AMH levels are significantly higher in patients with PCOS, particularly in those women with PCOS and IR. Nevertheless, larger samples are required to confirm these findings.

Managing paediatric obesity: a multidisciplinary intervention including peers in the therapeutic process.

BACKGROUND: Adolescent obesity epidemic is one of the major health priorities as it tracks into adult life. There is widespread need for new creative strategies and lifestyle programs. This study was designed to investigate the possible impact of including peers on the weight management program and assess the long-run adherence to behaviour change, with a potential positive impact on body mass index, body composition, and physical activity. Peer influence is major at this age and it is expected that adolescents will be better motivated and engaged in the behaviour changes when they are accompanied by their friends. METHODS/DESIGN: The study is a non-randomised, non-blinded controlled trial, including two groups: 1) Comparison group (n = 35), which will receive a 12 month standard treatment at the hospital setting plus a weekly interactive and physical activity session; 2) Experimental group (n = 99), which will receive the standardized treatment at the hospital plus a weekly session together with a peer of their choice. The sample size calculations for the primary outcomes showed that we will have power to detect effect sizes of 0.25. Measures include: a) Dual-energy x-ray absorptiometry (for body composition assessment); b) Anthropometric evaluations; c) Assessment of physical activity levels by accelerometers; d) Psychosocial mediators (motivation and peer support) assessed with a package of psychometric questionnaires; and e) Outcomes (quality of life and well-being). DISCUSSION: Adolescence is a crucial period for the development of a healthy lifestyle, especially among those who reach this age with an obesity condition. Obesity management programs directed to adolescents are often an adopted version of programs developed for children, most of them with a strong focus on the family, or an adopted version of adult programs, not recognizing the specificities of this age group. This study is designed taking into account the unique characteristics of this life-cycle stage, with the main objective of testing an innovative treatment for adolescent obesity. TRIAL REGISTRATION: This trial is registered in the clinicaltrials.gov with the number NCT02024061.

Internet-based intervention programme for obese adolescents and their families (Next.Step): research protocol of a controlled trial.

AIM: This paper describes the design and rationale of a controlled trial that aims to determine the effectiveness of an intervention programme in which the internet is used. BACKGROUND: Adolescent obesity is a major health problem, there being urgency to find effective interventions that induce behavioural change. The inclusion of the internet in the intervention may improve adolescents' adherence to the weight management programme and lead to adoption of healthier lifestyles. DESIGN: A clinical trial with a control group (non-randomized). METHODS: Participants are adolescents with appointments at a paediatric obesity clinic (Portugal). Sample size was calculated according to the power analysis. The experimental group will follow the standard treatment protocol and receive free access to the e-therapeutic platform. The control group will follow the standard treatment protocol and join a waiting list. Intervention length will be 36 weeks (24 weeks of direct intervention with a follow-up for 12 weeks). This study was approved by the Ethical Committee for Health (Lisbon, Portugal) in January 2012 and funded by the Foundation for Science and Technology (Portugal) in December 2012. DISCUSSION: The results of this research will promote reflection on new approaches directed to treat adolescent obesity and on the promotion of healthy behaviours. We expect to gather empirical evidence of the intervention programme effectiveness. The expectations lie on the population health gains, empowerment in decision-making and adoption of healthier lifestyles.

Short- and medium-term impact of a residential weight-loss camp for overweight adolescents.

INTRODUCTION: Management of adolescent obesity in clinical practice has been usually centered on the promotion of healthy eating and an active lifestyle, with a weak evidence base. In search of creative and more effective interventions, our objective was to evaluate the immediate and follow-up effectiveness of a residential camp program for obese adolescents. METHODS: A total of 28 obese adolescents (15 girls), mean age 13.3±1.7 years and body mass index (BMI) 30.3±5.4 kg/m2, who were attending a tertiary health unit, enrolled in a 2-week camp. The activities were prepared and supervised by different specialists. All adolescents were assessed for anthropometric and psychosocial variables including body image, self-esteem, quality of life and depressive symptoms. Evaluations were conducted on the first and last day of the camp and at 6 months' follow-up. The effect of treatment was analyzed using analysis of variance (ANOVA) mixed models. RESULTS: At the end of the camp, weight was reduced by -2.7±1.2%, BMI by -0.8±0.4 units and waist circumference by -2.8±9.8 cm. A reduction in depressive symptoms was identified, with greater reductions in BMI associated with a more significant improvement in depressive symptoms. At the 6 months' follow-up only girls maintained BMI reduction, with boys having increased their BMI. DISCUSSION: In the short-term the camp was effective in reducing BMI and improving depressive symptoms. Only girls were able to proceed with BMI reduction at 6 months. These gender differences should be further explored. Ongoing research is examining the maintenance of these improvements.

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.

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.

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.

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.

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.

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.

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.