Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration

Funder: UK Medical Research CouncilFunder: The Bluefield ProjectFunder: NIHR Cambridge Biomedical Research CentreFunder: Weston Brain InstituteFunder: Swedish Brain FoundationFunder: StratNeuro, Swedish DemensfondenFunder: NIHR Queen Square Dementia Biomedical Research Unit, the NIHR UCL/H Biomedical Research Centre and the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research FacilityFunder: The Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grantFunder: Karolinska Institutet Doctoral FundingFunder: Stockholm County Council ALFFunder: Swedish Alzheimer FoundationObjectives: The clinical heterogeneity of frontotemporal dementia (FTD) complicates identification of biomarkers for clinical trials that may be sensitive during the prediagnostic stage. It is not known whether cognitive or behavioural changes during the preclinical period are predictive of genetic status or conversion to clinical FTD. The first objective was to evaluate the most frequent initial symptoms in patients with genetic FTD. The second objective was to evaluate whether preclinical mutation carriers demonstrate unique FTD-related symptoms relative to familial mutation non-carriers. Methods: The current study used data from the Genetic Frontotemporal Dementia Initiative multicentre cohort study collected between 2012 and 2018. Participants included symptomatic carriers (n=185) of a pathogenic mutation in chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN) or microtubule-associated protein tau (MAPT) and their first-degree biological family members (n=588). Symptom endorsement was documented using informant and clinician-rated scales. Results: The most frequently endorsed initial symptoms among symptomatic patients were apathy (23%), disinhibition (18%), memory impairments (12%), decreased fluency (8%) and impaired articulation (5%). Predominant first symptoms were usually discordant between family members. Relative to biologically related non-carriers, preclinical MAPT carriers endorsed worse mood and sleep symptoms, and C9orf72 carriers endorsed marginally greater abnormal behaviours. Preclinical GRN carriers endorsed less mood symptoms compared with non-carriers, and worse everyday skills. Conclusion: Preclinical mutation carriers exhibited neuropsychiatric symptoms compared with non-carriers that may be considered as future clinical trial outcomes. Given the heterogeneity in symptoms, the detection of clinical transition to symptomatic FTD may be best captured by composite indices integrating the most common initial symptoms for each genetic group

Erica: Prevalences Of Hypertension And Obesity In Brazilian Adolescents

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)To estimate the prevalence of arterial hypertension and obesity and the population attributable fraction of hypertension that is due to obesity in Brazilian adolescents. METHODS: Data from participants in the Brazilian Study of Cardiovascular Risks in Adolescents (ERICA), which was the first national school-based, cross-section study performed in Brazil were evaluated. The sample was divided into 32 geographical strata and clusters from 32 schools and classes, with regional and national representation. Obesity was classified using the body mass index according to age and sex. Arterial hypertension was defined when the average systolic or diastolic blood pressure was greater than or equal to the 95th percentile of the reference curve. Prevalences and 95% confidence intervals (95% CI) of arterial hypertension and obesity, both on a national basis and in the macro-regions of Brazil, were estimated by sex and age group, as were the fractions of hypertension attributable to obesity in the population. RESULTS: We evaluated 73,399 students, 55.4% female, with an average age of 14.7 years (SD = 1.6). The prevalence of hypertension was 9.6% (95% CI 9.0-10.3); with the lowest being in the North, 8.4% (95% CI 7.7-9.2) and Northeast regions, 8.4% (95% CI 7.6-9.2), and the highest being in the South, 12.5% (95% CI 11.0-14.2). The prevalence of obesity was 8.4% (95% CI 7.9-8.9), which was lower in the North region and higher in the South region. The prevalences of arterial hypertension and obesity were higher in males. Obese adolescents presented a higher prevalence of hypertension, 28.4% (95% CI 25.5-31.2), than overweight adolescents, 15.4% (95% CI 17.0-13.8), or eutrophic adolescents, 6.3% (95% CI 5.6-7.0). The fraction of hypertension attributable to obesity was 17.8%. CONCLUSIONS: ERICA was the first nationally representative Brazilian study providing prevalence estimates of hypertension in adolescents. Regional and sex differences were observed. The study indicates that the control of obesity would lower the prevalence of hypertension among Brazilian adolescents by 1/5.501Brazilian Department of Science and Technology at the Secretariat of Science and TechnologyStrategic Inputs of the Ministry of Health (Departamento de Ciencia e Tecnologia da Secretaria de Ciencia e Tecnologia e Insumos Estrategicos do Ministerio da Saude - Decit/SCTIE/MS)Health Fund Sector (Fundo Setorial de Saude - CT-health) at the Ministry of science, Technology and Innovation (Ministerio da Ciencia, Tecnologia e Inovacao - MCTI)FINEP [01090421]CNPq [2010/565037-2]hospital research incentive fund for Clinics in Porto Alegre (fundo de incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre - HCPA) [405,009/FIPE-2012-7]Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

Erica: Prevalence Of Metabolic Syndrome In Brazilian Adolescents

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)To determine the prevalence of metabolic syndrome and its components in Brazilian adolescents. METHODS: We evaluated 37,504 adolescents who were participants in the Study of Cardiovascular Risks in Adolescents (ERICA), a cross-sectional, school-based, national study. The adolescents, aged from 12 to 17 years, lived in cities with populations greater than 100,000 inhabitants. The sample was stratified and clustered into schools and classes. The criteria set out by the International Diabetes Federation were used to define metabolic syndrome. Prevalences of metabolic syndrome were estimated according to sex, age group, school type and nutritional status. RESULTS: Of the 37,504 adolescents who were evaluated: 50.2% were female; 54.3% were aged from 15 to 17 years, and 73.3% were from public schools. The prevalence of metabolic syndrome was 2.6% (95% CI 2.3-2.9), slightly higher in males and in those aged from 15 to 17 years in most macro-regions. The prevalence was the highest in residents from the South macro-region, in the younger female adolescents and in the older male adolescents. The prevalence was higher in public schools (2.8% [95% CI 2.4-3.2]), when compared with private schools (1.9% [95% CI 1.4-2.4]) and higher in obese adolescents when compared with nonobese ones. The most common combinations of components, referring to 3/4 of combinations, were: enlarged waist circumference (WC), low HDL-cholesterol (HDL-c) and high blood pressure; followed by enlarged WC, low HDL-c and high triglycerides; and enlarged WC, low HDL-c, high triglycerides and blood pressure. Low HDL was the second most frequent component, but the highest prevalence of metabolic syndrome (26.8%) was observed in the presence of high triglycerides. CONCLUSIONS: ERICA is the first Brazilian nation-wide study to present the prevalence of metabolic syndrome and describe the role of its components. Despite the prevalence of Metabolic Syndrome being low, the high prevalences of some components and participation of others in the syndrome composition shows the importance of early diagnosis of this changes, even if not grouped within the metabolic syndrome.501Department of Science and Technology of the Secretariat of Science, Technology and Strategic Inputs of the Ministry of Health (Decit/SCTIE/MS)Health Sectorial Fund (Fundo Setorial de Saude - CT-Saude) of the Ministry of Science, Technology and Innovation (MCTI)FINEP [01090421]CNPq [2010/565037-2]Research Incentive Fund of the Hospital de Clinicas de Porto Alegre - (Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre - FIPE-HCPA) [405.009/2012-7]Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq