PurposeEvaluate the relationship of leptin receptor (LEPR) rs1137101, fat mass obesity-associated (FTO) receptors 9939609, melanocortin-4 receptors (MC4R) rs2229616 and rs17782313, and proliferator-activated receptor-gamma (PPARG) rs1801282 with clinical and metabolic phenotypes in prepubertal children.Research questionWhat is the effect of polymorphisms on clinical and metabolic phenotypes in prepubertal children?MethodsA cross-sectional descriptive study was performed to evaluate anthropometric features, percentage body fat (%BF), biochemical parameters, and genotype in 773 prepubertal children.ResultsFTO rs9939609 was associated with an increase in body mass index (BMI) and BMI z-score (zBMI). MC4R rs17782313 was associated with a decrease in BMI and +0.06 units in zBMI. LEPR, and PPARG-2 polymorphisms were associated with decreases in BMI and an increase and decrease units in zBMI, respectively. The homozygous SNPs demonstrated increases (FTO rs993609 and MC4R rs17782313) and decreases (LEPR rs1137101, PPARG rs1801282) in zBMI than the homozygous form of the major allele. In the overweight/obese group, the MC4R rs17782313 CC genotype showed higher average weight, zBMI, waist circumference, waist-circumference-to-height ratio, and waist-hip ratio, and lower BMI, mid-upper arm circumference, calf circumference, and %BF (P< 0.05). FTO rs9939609 AT and AA genotypes were associated with lower triglycerides (P < 0.05).ConclusionsWe showed that MC4R rs17782313 and FTO rs9939609 were positively associated with zBMI, with weak and very weak effects, respectively, suggesting a very scarce contribution to childhood obesity. LEPR rs1137101 and PPARG-2 rs1801282 had weak and medium negative effects on zBMI, respectively, and may slightly protect against childhood obesity.

BackgroundAutopsy studies reveal that atherosclerosis lesions can be found as early as two years of age. To slow the development of this early pathology, obesity and dyslipidemia prevention should start from childhood making it urgent to explore new ways to evaluate dyslipidemia risk in children that can be applied widely, such as the non-invasive anthropometric evaluation.ObjectiveAssess the metabolic profile of a pediatric population at a specific age to describe the association between anthropometric and biochemical cardiovascular disease risk factors; and evaluate selected anthropometric variables as potential predictors for dyslipidemic cardiovascular risk.Design and methodsAnthropometric features, bioimpedance parameters and fasting clinical profile were assessed in Lisbon and the Tagus Valley region pre-pubertal nine-year-old children (n = 1.496) from 2009–2013 in a descriptive, cross-sectional study. Anthropometric variables predictive power was evaluated through regression analysis.ResultsAt least one abnormal lipid parameter was found in 65% of “normal weight”, 73% of “overweight” and 81% of “obese” children according to the International Obesity Task Force (IOTF) standards. Dyslipidemia was present in 67.8% of children. Waist-hip ratio (WHR) explained 0.4% of total cholesterol (TC) variance. Waist circumference (WC) explained 2.8% of apolipoprotein (APO) A1 variance. Waist-circumference-to-height-ratio (WHtR) explained 2.7%, 2.8% and 1.9% of low-density lipoprotein cholesterol (LDL-c), APO B, and N_HDL-c variance, respectively. Children with abnormally high WHR levels had an increase in risk of 4.49, 3.40 and 5.30 times, respectively, for developing cardiovascular disease risk factors measured as high-risk levels of TC, LDL-c and non-HDL-c (N_HDL-c) (p<0.05). Only 29.9% of “normal weight” children had no anthropometric, bioimpedance or biochemical parameters associated with CV risk.ConclusionA large proportion of school age children have at least one lipid profile abnormality. BMI, zBMI, calf circumference (CC), hip circumference (HC), WC, and WHR are directly associated with dyslipidemia, whereas HC and calf circumference (CC) adjusted to WC, and mid-upper arm circumference (MUAC), are all inversely associated with dyslipidemia. Selected anthropometric variables are likely to help predict increased odds of having CV risk factors.

SummaryObjectiveTo develop and cross‐validate predictive models for percentage body fat (%BF) from anthropometric measurements [including BMI z‐score (zBMI) and calf circumference (CC)] excluding skinfold thickness.MethodsA descriptive study was carried out in 3,084 pre‐pubertal children. Regression models and neural network were developed with %BF measured by Bioelectrical Impedance Analysis (BIA) as the dependent variables and age, sex and anthropometric measurements as independent predictors.ResultsAll %BF grade predictive models presented a good global accuracy (≥91.3%) for obesity discrimination. Both overfat/obese and obese prediction models presented respectively good sensitivity (78.6% and 71.0%), specificity (98.0% and 99.2%) and reliability for positive or negative test results (≥82% and ≥96%). For boys, the order of parameters, by relative weight in the predictive model, was zBMI, height, waist‐circumference‐to‐height‐ratio (WHtR) squared variable (_Q), age, weight, CC_Q and hip circumference (HC)_Q (adjusted r 2 = 0.847 and RMSE = 2.852); for girls it was zBMI, WHtR_Q, height, age, HC_Q and CC_Q (adjusted r 2 = 0.872 and RMSE = 2.171).Conclusion%BF can be graded and predicted with relative accuracy from anthropometric measurements excluding skinfold thickness. Fitness and cross‐validation results showed that our multivariable regression model performed better in this population than did some previously published models.

This report describes a rare case of acquired Ondine's curse. The patient developed central sleep apnea syndrome named Ondine's curse after a brainstem infarction. Lesions involving the descending medullocervical pathways that subserve automatic breathing can result in this syndrome.

-Cerebral embolism from cardiac source is an important cause of stroke, specially in patients younger than 45 years old. Objective: To describe the transesophageal echocardiography (TEE) findings in young and non-young stroke patients without any prior evidence of cardiac source for cerebral embolism. Method: Transversal study: 523 patients (267 men and 256 women) with ischemic stroke, without any evidence of cardiac abnorm a l i t y, underwent to TEE. Results: Ten percent were aged 45 years; or less. Left ventricle hypert ro p h y, left atrial enlargement, spontaneous contrast in aorta, interatrial septum aneury s m , mitral and aortic valve calcification, aortic valve regurgitation, and atherosclerotic plaques in aorta were significantly more frequent in patients aged more than 45 years; 2.8% of non-young patients had thro mbus in left heart . Conclusion: TEE is widely used to diagnose cardiac source of cerebral embolism in young patients, but it seems to be as useful for older ones, in whom cerebral embolism risk is undere s t i m a t e d ; atherogenic and cardioembolic causes may actually coexist, and both should be treated.KEY WORDS: stroke, cardiac embolism, transesophageal echocardiogram.E c o c a rdiograma transesofágico revela fonte cardíaca de embolia cerebral em pacientes com AVC e mais que 45 anos RESUMO -Embolia cerebral de fonte cardíaca é frequentemente relacionada a acidente vascular cerebral ( AVC) em jovem. Objetivo: D e s c rever achados ecocardiográficos em jovens e não jovens com AVC isquêmi-co, sem suspeita de fonte card í a c a . Método: Estudo transversal; 523 pacientes (267 homens e 256 mulheres) com AVC isquêmico sem evidência de fonte cardíaca submeteram-se ao ecocardiograma transesofágico ( E C O T E ) . Resultados: 10% dos pacientes tinha 45 anos; ou menos. Hipert rofia do ventrículo esquerd o , aumento do átrio esquerdo, contraste espontâneo na aorta, aneurisma do septo interatrial, calcificação da válvula mitral e aórtica, insuficiência aórtica e placas de ateroma na aorta foram significantemente mais frequentes nos pacientes com mais que 45 anos; 2.8% dos não-jovens apresentaram trombo nas câmaras esquerdas. Conclusão: ECOTE é amplamente sugerido na investigação de embolia em pacientes jovens, porém parece ser tão importante também no grupo de pacientes mais velhos, nos quais o risco de embolia cerebral é subestimado; etiologia cardioembólica e aterosclerótica coexistem, e ambas devem ser identificadas e tratadas para melhor prognóstico. PALAVRAS-CHAVE: acidente vascular cerebral, embolia cardíaca, ecocardiograma transesofágico.