Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.

Joubert syndrome is a rare disorder, usually autosomal recessive, with a prevalence of 1:80 000 to 1:100 000. This disease presents most commonly as breathing irregularities, although the two major clinical criteria are hypotonia and developmental delay, sometimes associated with ocular movement abnormalities. The severity of the presentation varies, ranging from mild cases with normal intelligence to severe developmental delays associated with early death. We report a case of a newborn who presented to the emergency department for absent ocular fixation and torsional nystagmus without other neurological abnormalities. Her cranial MR showed cerebellar vermis agenesis and a molar tooth sign. Her laboratory evaluation, and renal and abdominal ultrasound were normal. An electroretinogram showed mixed retinal dystrophy and an AHI1 homozygous missense c.1981T>C mutation was identified (parents are carriers). Throughout infancy, she has shown mild developmental delay and hypotonia, but no respiratory abnormalities. Owing to variable expressivity, a high level of suspicion is required

Effects of 2 or 5 consecutive exercise days on adipocyte area and lipid parameters in Wistar rats

<p>Abstract</p> <p>Background</p> <p>Exercise has been prescribed in the treatment and control of dyslipidemias and cholesterolemia, however, lipid responses to different training frequencies in hypercholesterolemic men have been inconsistent. We sought to verify if different frequencies of continuous moderate exercise (2 or 5 days/week, swimming) can, after 8 weeks, promote adaptations in adipocyte area and lipid parameters, as well as body weight and relative weight of tissues in normo and hypercholesterolemic adult male rats.</p> <p>Methods</p> <p>Normal cholesterol chow diet or cholesterol-rich diet (1% cholesterol plus 0.25% cholic acid) were freely given during 8 weeks to the rats divided in 6 experimentals groups: sedentary normal cholesterol chow diet (C); sedentary cholesterol-rich diet (H); 5× per week continuous training normal cholesterol chow diet (TC5) and cholesterol-rich diet (TH5); 2× per week continuos traning normal cholesterol chow diet (TC2) and cholesterol-rich diet (TH2).</p> <p>Results</p> <p>No changes were observed in lipid profile in normal cholesterol chow diet, but both 2 a 5 days/week exercise improved this profile in cholesterol-rich diet. Body weight gain was lower in exercised rats. Decrease in retroperitoneal and epididymal relative weights as well as reductions in adipocyte areas under all diets types were observed only in 5 days/week, while 2 days/week showed improvements mainly in cholesterol-rich diet rats.</p> <p>Conclusion</p> <p>Our results confirm the importance of exercise protocols to control dyslipidemias and obesity in rats. The effects of 5 days/week exercise were more pronounced compared with those of 2 consecutive days/week training.</p

Endotoxin levels correlate positively with a sedentary lifestyle and negatively with highly trained subjects

Introduction: A sedentary lifestyle increases the risk of developing cardiovascular disease, obesity, and diabetes. This phenomenon is supported by recent studies suggesting a chronic, low-grade inflammation status. Endotoxin derived from gut flora may be key to the development of inflammation by stimulating the secretion of inflammatory factors. This study aimed to examine plasma inflammatory markers and endotoxin levels in individuals with a sedentary lifestyle and/or in highly trained subjects at rest. Methods: Fourteen male subjects (sedentary lifestyle n = 7; highly trained subjects n = 7) were recruited. Blood samples were collected after an overnight fast (similar to 12 h). the plasmatic endotoxin, plasminogen activator inhibitor type-1 (PAI-1), monocyte chemotactic protein-1 (MCP1), ICAM/CD54, VCAM/CD106 and lipid profile levels were determined.Results: Endotoxinemia was lower in the highly trained subject group relative to the sedentary subjects (p < 0.002). in addition, we observed a positive correlation between endotoxin and PAI-1 (r = 0.85, p < 0.0001), endotoxin and total cholesterol (r = 0.65; p < 0.01), endotoxin and LDL-c (r = 0.55; p < 0.049) and endotoxin and TG levels (r = 0.90; p < 0.0001). the plasma levels of MCP-1, ICAM/CD54 and VCAM/CD106 did not differ.Conclusion: These results indicate that a lifestyle associated with high-intensity and high-volume exercise induces favorable changes in chronic low-grade inflammation markers and may reduce the risk for diseases such as obesity, diabetes and cardiovascular diseases.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Universidade Federal de São Paulo, Dept Physiol, Div Nutr, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Biosci, São Paulo, BrazilUniv São Paulo, Canc Metab Grp, Inst Biomed Sci, Dept Cell & Dev Biol, BR-05508 São Paulo, BrazilUniv Prebiteriana Mackenzie, Dept Phys Educ, Biol & Hlth Sci Ctr, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psychobiol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Physiol, Div Nutr, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Biosci, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psychobiol, São Paulo, BrazilFAPESP: 2008/03533-1Web of Scienc

Exantema Infecioso ou Toxidermia Medicamentosa: O Desafio Diagnóstico e Terapêutico.

Introdução: Dada a semelhança morfológica, a distinção entre exantema infeccioso e toxidermia é difícil. Uma história detalhada, com a cronologia dos eventos é fundamental para uma abordagem correta. As reações de hipersensibilidade a fármacos são raras (2.5%), mais frequentemente associadas a antibióticos, antiepilépticos e antiinflamatórios. Descrição do caso: Criança do sexo masculino, 1 ano, com antecedentes de epilepsia. Medicado com carbamazepina e levetiracetam, desde os 7 e 10 meses respetivamente. Internado em hospital secundário por estado de mal, medicado com fenitoína e valproato de sódio. Em D4, febre e estado de mal refratário, com necessidade de fenobarbital, midazolam e ventilação mecânica invasiva. Em D6 surgiu exantema maculo-papular nos membros inferiores, que evoluiu para tronco, membros superiores e abdómen. Por suspeita de toxidermia, suspendeu fenobarbital. Em D8 foi transferido para UCIP de hospital terciário. Objetivada progressão das lesões cutâneas para a face, palmas e plantas. Em D10 suspensa fenitoína, iniciou metilprednisolona e anti-H1, com melhoria. PCR para vírus parainfluenza 3 positiva nas secreções traqueais, pelo que se retirou corticoterapia em D14, seguindo-se agravamento significativo. Em D15 suspendeu carbamazepina e valproato, com melhoria do exantema em 48 horas. Discussão: O caso é complexo pela sobreposição de patologias e pela utilização de vários fármacos. As infeções víricas por parainfluenza estão associadas a exantemas inespecíficos. Os antiepilépticos aromáticos e o valproato de sódio podem desencadear toxidermia. Na fase aguda, a exclusão faseada de fármacos pode contribuir para o esclarecimento diagnóstico. Após estabilização clínica a investigação alergológica é fundamental.info:eu-repo/semantics/publishedVersio