Elisabete Ramos

Family and school determinants of overweight in 13-year-old Portuguese adolescents.

Aims: To identify familial and school determinants of overweight in 13‐year‐old adolescents.

A prospective study of nocturia and the quality of life of elderly patients with obstructive sleep apnea or sleep onset insomnia

OBJECTIVE To prospectively evaluate the relationship between obstructive sleep apnea syndrome (OSAS), nocturia and quality of life in elderly patients free of the urologic and medical conditions that lead to increased nocturia. METHODS Prospective study of nocturia in men 65 years and older with isolated OSAS or sleep onset insomnia. After a 7-day nocturia evaluation and nocturnal polysomnography, Epworth Sleepiness Scale (ESS), Beck Depression Inventory (BDI), Quality of Life (SF-36) were administered. RESULTS OSAS patients with frequent nocturia had significantly greater body mass index (BMI), greater apnea-hypopnea index (AHI), lower lowest oxygen saturation and lower SF-36 subscale scores. Treatment with nasal continuous positive airway pressure (CPAP) for OSAS and behavioral techniques for insomnia improved ESS and BDI scores for all three groups. SF-36 subscale scores improved more in subjects with multiple nocturia. AHI and BMI explain 38% of the variance for nocturia. CONCLUSION Nasal CPAP reduces OSA and nocturia and improves quality of life of elderly patients.

Uso de tabaco por estudantes adolescentes portugueses e fatores associados

OBJETIVO: Descrever o uso de tabaco e identificar os seus determinantes em estudantes adolescentes. METODOS: Estudo transversal, tendo sido avaliadas 1.052 meninas e 984 meninos de 13 anos de idade matriculados em escolas publicas e privadas da cidade do Porto, Portugal. A proporcao individual de participacao foi de 77,5%. O adolescente e o seu responsavel preencheram um questionario sobre informacoes sociodemograficas e de comportamento em suas casas. Na escola, o adolescente completou outro questionario, com informacoes sobre o tabagismo. As variaveis continuas foram comparadas pelo teste Kruskal-Wallis e as proporcoes pelo teste de qui-quadrado. As estimativas de risco e respectivos intervalos de confianca de 95% foram calculados por regressao logistica nao condicional. RESULTADOS: Dos adolescentes avaliados, 19,9% (22,4% das meninas e 17,1% dos meninos) experimentaram fumar mas nao eram fumantes; 1,8% (2,0% das meninas e 1,5% dos meninos) fumavam ocasionalmente e 1,3% (2,0% das meninas e 0,4% dos meninos) fumavam pelo menos um cigarro por dia. A razao mais referida como a mais importante para experimentar fumar foi a curiosidade (46,3% das meninas e 45,6% dos meninos). Apos ajuste para os habitos tabagicos dos progenitores, dos irmaos e dos amigos, a associacao mais forte foi com o tabagismo dos amigos, nas meninas (OR=4,03; IC 95%: 2,69-6,04) e nos meninos (OR=5,39; IC 95%: 3,34-8,70). CONCLUSOES: Uma elevada proporcao tinha experimentado fumar e ter amigos fumantes foi o mais forte determinante para experimentar fumar.

Sleep Duration and Adiposity During Adolescence

BACKGROUND AND OBJECTIVE: The association between sleep and obesity has been described in different age groups. However, there are not sufficient data to clarify the inconsistent results reported in adolescents. Our objective was to study the associations between sleep duration and adiposity at 13 and at 17 years of age, with both cross-sectional and longitudinal approaches. METHODS: We evaluated, as part of an urban population-based cohort (EPITeen), 1171 adolescents at both 13 and 17 years of age. Sleep duration was estimated by self-reported bedtimes and wake-up times. Age- and gender-specific BMI z scores were calculated based on Centers for Disease Control and Prevention references. Body fat percentage (BF%) was assessed by bioelectrical impedance. Regression coefficients (β) and respective 95% confidence intervals (CIs) were used to estimate the association between sleep and BMI z scores and BF%. Additionally, a cross-lagged analysis was performed to investigate the causal relations. RESULTS: In the cross-sectional analysis, at 13 years, sleep duration was inversely associated with BMI z score only in boys (β = −0.155, 95% CI: −0.267 to −0.043); at 17 years, a positive association was found among girls but was only significant for BF% (β = 0.510, 95% CI: 0.061–0.958). In the longitudinal approach, sleep duration at age 13 was inversely associated with BMI z score (β = −0.123, 95% CI: −0.233 to −0.012) and BF% (β = −0.731, 95% CI: −1.380 to −0.081) at 17 years only in boys. These significant associations disappeared after adjustment for adiposity at 13 years. These results were corroborated by those from cross-lagged analysis. CONCLUSIONS: Our results showed an effect of sleep duration in adiposity at younger ages of adolescence and suggested gender differences in this association.

Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

BACKGROUND Little is known about the consequences of the special energy enriched diet used to treat patients with phenylketonuria (PKU) in terms of obesity and metabolic syndrome (MetSyn) development. OBJECTIVE To investigate the prevalence of overweight and obesity, and its consequences in terms of body composition and MetSyn in early treated patients with PKU compared to controls. DESIGN A sample of 89 patients with PKU (3-30 y; 14.4±6.6 y) and 79 controls (3-47 y; 16.3±7.9 y) were studied. In the fasted state, anthropometric, body composition, blood pressure and analytical parameters [amino acids, glucose, insulin, total and HDL-cholesterol (HDL-c), triglycerides (TG), high sensitivity c-reactive protein and uric acid] were performed. Data on dietary intake was collected. BMI was classified using WHO criteria, while the definition from International Diabetes Federation (IDF) was used for MetSyn. RESULTS Prevalence of overweight and obesity (32.6% vs. 24.1%; p=0.293), body fat percentage (22% vs. 23.1%, p=0.581) and central obesity (36.9% vs. 36.4%, p=0.999) were comparable to controls. Patients revealed a higher TG/HDL-c (p<0.001). The prevalence of MetSyn was 1.5% and 6.1% in patients and controls, respectively. Patients and not controls with central obesity revealed a further significant increase in TG/HDL-c compared with those without central obesity (p=0.023). CONCLUSION Patients and controls were similar in terms of overweight and obesity, body composition and MetSyn. However, the dyslipidemia in patients with PKU in relation to overweight and obesity may help us trying to understand the course and the etiology of MetSyn not only in PKU but also in the general population.

Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.

Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well‐characterized sample of patients, and thus contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating, including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait, dystonia, type of tremor, and global score severity when comparing the group of patients with missense and truncating mutations. We also found differences in the presence, distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months; 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid‐akinetic syndrome, when comparing groups with similar time of disease evolution.

Caffeine intake reduces sleep duration in adolescents

In our study, we hypothesized that higher caffeine intake would be associated with lower sleep duration among 13-year-old adolescents. In addition, we aimed to identify food sources of caffeine intake in this sample. Eligible participants were adolescents who were born in 1990 and attended school in Porto, Portugal, in 2003/2004. Self-administered questionnaires were used, and diet was evaluated using a food frequency questionnaire. From the 2160 eligible participants, only 1522 with valid information regarding their diet were included in this study. In our sample, the median intake of caffeine was 23.1 mg/d, with soft drinks being the major source. Ice tea presented the highest median (25th-75th percentiles) contribution (33.1% [14.0-52.1]), followed by cola (21.1% [6.4-37.6]). Regarding cocoa products, chocolate bars presented a median contribution of 5.1% (1.0-14.0), and snacks containing chocolate had a contribution of 3.0% (0.5-7.2). Coffee and tea presented a negligible contribution. Adolescents who reported less sleep duration and those who spent more time watching TV during the weekend had a significantly higher caffeine intake. Overall, boys had higher intakes of caffeine from soft drinks, and private school attendees, those who had parents with more education, who reported less television viewing time and had lower body mass index presented higher intakes of caffeine from chocolate. Considering sleeping more than 9.5 hours as a reference class, for each increase of 10 mg/d in caffeine intake, we found that the odds ratio of sleeping 8.5 hours or less was 1.12 (95% confidence interval, 1.06-1.19). Our results support the hypothesis that caffeine intake was inversely associated with sleep duration in adolescents.

Prevalence, incidence and risk factors for Helicobacter pylori infection in a cohort of Portuguese adolescents (EpiTeen)

BACKGROUND Helicobacter pylori infection is acquired mainly during childhood, but it may occur throughout life. Understanding the determinants of infection at different ages is essential to clarify dynamics of H. pylori related diseases and to design preventive strategies. AIM To estimate the prevalence of H. pylori infection at the age of 13 and the incidence after a 3-year follow-up and to identify risk factors for infection. SUBJECTS AND METHODS Adolescents born in 1990 were recruited in schools from Porto. Whole-cell anti-H. pylori IgG antibodies were quantified by ELISA. Prevalence ratios (PR) and incidence rate ratios (RR) adjusted for parental education were computed at baseline (n = 1312) and at follow-up (n = 280). RESULTS The prevalence was 66.2%, lower in subjects with more educated parents (PR = 0.72, 95%CI: 0.63-0.82), and higher for those having more than one sibling (PR = 1.10, 95%CI: 1.02-1.19) and for smokers (PR = 1.11, 95%CI: 1.02-1.20). The incidence was 4.1/100 person-years. Smoking (RR = 2.35, 95%CI: 1.16-4.75) and type of school (RR = 0.38, 95%CI: 0.16-0.95) were associated with the incidence of infection. CONCLUSIONS Prevalence and incidence of H. pylori infection were high, suggesting that gastric cancer will remain an important public health problem in this generation of Portuguese. We identified smoking as a modifiable risk factor for infection.

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

BACKGROUND The diagnosis of Rett syndrome (RTT) is based on a set of clinical criteria, irrespective of mutation status. The aims of this study were (1) to define the clinical differences existing between patients with Rett syndrome with (Group I) and without a MECP2 mutation (Group II), and (2) to characterize the phenotypes associated with the more common MECP2 mutations. PATIENTS AND METHODS We analyzed 87 patients fulfilling the clinical criteria for RTT. All were observed and videotaped by the same paediatric neurologist. Seven common mutations were considered separately, and associated clinical features analysed. RESULTS Comparing Group I and II, we found differences concerning psychomotor development prior to onset, acquisition of propositive manipulation and language, and evolving autistic traits. Based on age at observation, we found differences in eye pointing, microcephaly, growth, number of stereotypies, rigidity, ataxia and ataxic-rigid gait, and severity score. Patients with truncating differed from those with missense mutations regarding acquisition of propositive words and independent gait, before the beginning of the disease, and microcephaly, growth, foot length, dystonia, rigidity and severity score, at the time of observation. Patients with the R168X mutation had a more severe phenotype, whereas those with R133C showed a less severe one. Patients with R294X had a hyperactive behaviour, and those with T158M seemed to be particularly ataxic and rigid. CONCLUSION A clear regressive period (with loss of prehension and language, deceleration of growth) and the presence of more than three different stereotypies, rigidity and ataxic-rigid gait seemed to be very helpful in differentiating Group I from Group II.

Upper-Body Adiposity and Risk of Myocardial Infarction

Background The relation between obesity and coronary heart disease (CHD) has long been studied, but no convincing conclusion has been drawn. Objective To estimate the relative risk associated with upper-body adiposity which is at present believed to be a better predictor of CHD. Design This was a community-based case–control study. Methods We studied 338 consecutively admitted patients who had had their first acute myocardial infarction (AMI) and 662 community controls who had not suffered AMI selected as a random sample of adults living in the catchment area of the hospital. We defined three classes of body mass index (BMI) and waist:hip circumference ratio on the basis of tertiles of distribution for controls. Odds ratios (OR) were estimated using unconditional logistic regression. Separate models were built for men and women. Results In univariate analysis we found a higher risk of AMI for men and women with hypertension, dyslipidaemia, diabetes and lower levels of education, for older women, for male smokers and for men with family histories of CHD. Both for men and for women a higher BMI was associated with a slightly higher risk, whereas the adjusted risk of AMI increased with increasing waist:hip circumference ratio [for men OR (second tertile) = 2.5, 95% confidence interval (CI) 1.3–4.9 and OR (third tertile) = 11.1, 95% CI 6.0–20.6; for women OR (second tertile) = 3.0, 95% CI 0.6–14.8 and OR (third tertile) = 14.1, 95% CI 3.2–62.7]. This relation held for each BMI class and was stronger for classes of lower BMI. Conclusions Distribution of body fat rather than BMI is a strong marker of risk for AMI and there is a clear interaction between these two variables.