Although the role of oxidized lipoproteins is well known in atherogenesis, the role of vitamin E supplementation is still controversial. There is also little information about cholesterol metabolism (hepatic concentration and fecal excretion) in the new models of atherosclerosis. In the present study, we evaluated the effect of moderate vitamin E supplementation on cholesterol metabolism and atherogenesis in apolipoprotein E (apo E)-deficient mice. Apo E-deficient mice were fed an atherogenic diet containing 40 or 400 mg/kg of = -tocopherol acetate for 6 weeks. Total cholesterol in serum and liver and 3-OH-=-sterols in feces, and fecal excretion of bile acids were determined and histological analyses of aortic lesion were performed. A vitamin Erich diet did not affect body weight, food intake or serum cholesterol. Serum and hepatic concentrations of cholesterol as well as sterol concentration in feces were similar in both groups. However, when compared to controls, the = -tocopherol-treated mice showed a reduction of about 60% in the atherosclerotic lesions when both the sum of lesion areas and the average of the largest lesion area were considered. These results demonstrate that supplementation of moderate doses of = -tocopherol was able to slow atherogenesis in apo E-deficient mice and to reduce atherogenic lipoproteins without modifying the hepatic pool or fecal excretion of cholesterol and bile acids.
Heart rate (HR) acceleration is an essential mechanism for adaptation to changes in hemodynamic and energetic needs resulting from body movements. To evaluate age-related development of coupling between spontaneous movement and HR changes, we performed polysomnographic recordings in 20 clinically and neurologically normal newborns including 10 premature (31- to 36-wk gestational age, wGA) and 10 full-term (38- to 41-wk gestational age) infants. Recordings were sampled at 286 Hz and processed using a signal-to-noise ratio algorithm for QRS complex detection. Movements were automatically detected and the logical signal obtained was sampled at QRS fiducial points and written in the attributes of each QRS. The study included the 402 movements that were less than 30 s in duration and were neither preceded nor followed by another movement or by a respiratory event (pause, sigh). The amplitude of movement-induced HR acceleration was significantly lower in premature compared with full-term newborns (p < 0.01). This difference persisted when the other factors influencing the HR response (basal HR, movement duration, and amplitude) were taken into consideration. Our data identify HR acceleration induced by spontaneous body movements as a fundamental reflex response that develops with gestational age from premature to full-term newborns.
RESUMO -A validade preditiva da Avaliação do Movimento do Bebê (Movement Assessment of Infants -MAI), para detecção precoce de paralisia cerebral, foi analisada em 89 crianças brasileiras nascidas com idade gestacional ≤ 32 semanas e peso ≤ 1500g. O MAI foi aplicado aos 4 e 8 meses de idade corrigida e as crianças foram submetidas a avaliação neurológica entre 2 e 7 anos de idade. Foram calculadas estimativas de sensibilidade (0,61 a 1,0), especificidade (0,79 a 0,95), valor de predição positiva (0,48 a 0,73) e valor de predição negativa (0,79 a 1,0), aos 4 e 8 meses, para escores ≥ 13 e ≥ 10 pontos de risco. Os melhores índices preditivos foram obtidos aos 8 meses e para o ponto de corte ≥ 13 pontos de risco. Um critério menos restritivo (≥ 10 pontos) pode ser útil para predição de transtornos da coordenação motora, na idade escolar.PALAVRAS-CHAVE: prematuridade, detecção precoce, desenvolvimento infantil, paralisia cerebral, validade preditiva, MAI. Predictive validity of the Movement Assessment of Infants (MAI) for Brazilian preterm childrenABSTRACT -The predictive validity of the Movement Assessment of Infants (MAI) for the detection of cerebral palsy was analyzed in 89 Brazilian infants, born with gestational age ≤ 32 weeks and weight ≤ 1500g. The infants were assessed with the MAI at 4 and 8 months, corrected ages, and were submitted to a neurological evaluation between the ages 2 and 7 years old. Estimates of sensibility (0.61 -1.0), specificity (0.79 -0.95), positive predictive value (0.48 -0.73) and negative predictive value (0.79 -1.0) were calculated at 4 and 8 months, for risk points ≥ 13 and ≥ 10. The best predictive values were obtained at 8 months, with a cut off ≥ 13 risk points. A less restrictive criteria (≥ 10 points) might be useful for the prediction of motor coordination problems at school age.
Objective: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. Method: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. Results: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-yearold male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. Conclusion: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling. Key words: Batten disease, neuronal ceroid-lipofuscinoses, polymerase chain reaction.Lipofuscinose ceróide neuronal juvenil: investigação clínica e molecular em uma família grande no Brasil RESUMO Objetivo: Lipofuscinose Ceróide Neuronal Juvenil (JNCL, CLN 3, Doença de Batten) (OMIM # 204200) pertence ao grupo mais comum de doenças neurodegenerativas na infância. É causada por mutações no gene CLN3, com padrão de herança recessiva. A deleção de 1,02 kb é a mutação mais comum. Relatamos os dados clínicos e análise molecular de uma família consanguínea numerosa. Método: Família composta por dois casais consanguíneos e trinta e duas crianças. Foram obtidos dados clínicos de dez pacientes e análises moleculares de 13 participantes. Resultados: Foi detectada deleção de 1,02 kb. O fenótipo mais grave, com comportamento autista, tiques e parkinsonismo foi visto em uma paciente do sexo feminino de 12 anos e o fenótipo mais leve em um paciente do sexo masculino de 14 anos. Nictalopia foi o primeiro sintoma de uma criança falecida. A perda visual de seis pacientes foi observada pela primeira vez na escola e não em casa. Conclusão: Destaca-se a variação fenotípica intrafamiliar em 10 pacientes. A investigação molecular desta família numerosa tornou possível o diagnóstico, a abordagem correta e aconselhamento genético. Palavras-chave: doença de Batten, lipofuscinoses ceróides neuronais, reação em cadeia da polimerase.
Resumo Crianças nascidas prematuras, especialmente aquelas com peso <1.500g, apresentam frequentemtente complicações neonatais e riscos para problemas de desenvolvimento. Nesse estudo, 20 crianças com inteligência e exame neurológico normal, aos sete anos, nascidas <33 semanas de gestação e peso <1.500g, foram comparadas com 20 crianças nascidas a termo. Avaliou-se a inteligência pela WISC-III e o comportamento pelo Questionário de Conners. O Exame Neurológico Evolutivo-Lefèvre foi aplicado nas prematuras. As crianças prematuras apresentaram nível intelectual inferior ao das nascidas a termo. No Conners não houve diferença entre os grupos. Apenas 20% das prematuras completaram todas as provas do Exame Evolutivo previstas para a idade. Os dados alertam para a necessidade de avaliações específicas, na idade escolar, em crianças nascidas prematuras, mesmo que apresentem exame neurológico normal.
AVIF-2 to 6 years presented good reliability indexes, however a few items within the domains need minor adjustments in order to improve scores' consistency of some items.
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