Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.Peloton Advantage, LLC - Alexion Pharmaceuticals, Inc.Univ Fed Sao Paulo UNIFESP, Dept Pediat, Reference Ctr Inborn Errors Metab CREIM, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Lab Inborn Errors Metab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pathol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pediat, Reference Ctr Inborn Errors Metab CREIM, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Lab Inborn Errors Metab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Pathol, Sao Paulo, SP, BrazilWeb of Scienc

Social mobility, lifestyle and body mass index in adolescents

OBJETIVO Analisar a associação entre mobilidade social, estilo de vida e índice de massa corporal de adolescentes. MÉTODOS Estudo de coorte com 1.716 adolescentes de dez a 17 anos de idade, de ambos os sexos. Os adolescentes eram participantes de um estudo de coorte e nasceram entre 1994 e 1999. Os adolescentes foram avaliados em escolas públicas e privadas entre 2009 e 2011. O estilo de vida foi avaliado por meio de entrevista e a antropometria foi utilizada para o cálculo do índice de massa corporal. Para a classificação econômica na infância e na adolescência foram utilizados critérios preconizados pela Associação Brasileira de Empresas de Pesquisa. Mobilidade social ascendente foi considerada como aumento em pelo menos uma classe econômica no período de dez anos. Utilizou-se regressão de Poisson para estimar a associação entre a mobilidade social ascendente e os desfechos avaliados. RESULTADOS Dos adolescentes (71,4% de seguimento da coorte), 60,6% apresentaram mobilidade social ascendente. Destes, 93,6% pertenciam à classe econômica D e 99,9% à E. Maior prevalência de ascensão social foi observada para escolares de cor da pele preta (71,4%) e parda (61,9%), matriculados na escola pública (64,3%) e cujas mães apresentaram menor escolaridade na primeira avaliação (67,2%) e na reavaliação (68,7%). A mobilidade social ascendente mostrou-se associada apenas aos comportamentos sedentários (p = 0,02) após ajuste para variáveis de confusão. A classe econômica na infância mostrou-se mais associada aos desfechos avaliados do que a mobilidade social ascendente. CONCLUSÕES A mobilidade social ascendente não mostrou associação com a maioria dos desfechos avaliados, possivelmente por ter sido discreta e porque o período considerado no estudo pode não ter sido suficiente para refletir mudanças substanciais no estilo de vida e no índice de massa corporal dos adolescentes.OBJETIVO Analizar la asociación entre la movilidad social, estilo de vida e índice de masa corporal en adolescentes. MÉTODOS Estudio de cohorte con 1.716 adolescentes de diez a 17 años de edad, de ambos sexos. Los adolescentes participaban de un estudio de cohorte y nacieron entre 1994 y 1999. Los adolescentes fueron evaluados en escuelas públicas y privadas entre 2009 y 2011. El estilo de vida fue evaluado por medio de entrevista y la antropometría fue utilizada para el cálculo del índice de masa corporal. Para la clasificación económica en la infancia y en la adolescencia se utilizaron criterios recomendados por la Asociación Brasileña de Empresas de Investigación. La movilidad social ascendente fue considerada como aumento en al menos una clase económica en el período de diez años. Se utilizó regresión de Poisson para estimar la asociación entre la movilidad social ascendente y los resultados evaluados. RESULTADOS De los adolescentes (71,4% de seguimiento de la cohorte), 60,6% presentaron movilidad social ascendente. De estos, 93,6% pertenecían a la clase económica D y 99,9% a la E. La mayor prevalencia de ascensión social fue observada en escolares con color de piel negra (71,4%) y parda (61,9%), matriculados en la escuela pública (64,3%) y cuyas madres presentaban menor escolaridad en la primera evaluación (67,2%) y en la reevaluación (68,7%). La movilidad social ascendente estuvo asociada sólo con los comportamientos sedentarios (p=0,02) posterior al ajuste para variables de confusión. La clase económica en la infancia se mostró más asociada con los resultados evaluados en comparación con la movilidad social ascendente. CONCLUSIONES La movilidad social ascendente no mostró asociación con la mayoría de los resultados evaluados, posiblemente por haber sido discreta y porque el período considerado en el estudio pudo no haber sido suficiente para reflejar cambios sustanciales en el estilo de vida y en el índice de masa corporal de los adolescentes.OBJECTIVE To analyze the association between social mobility, lifestyle and body mass index in adolescents. METHODS A cohort study of 1,716 adolescents aged 10 to 17 years of both sexes. The adolescents were participants in a cohort study and were born between 1994 and 1999. The adolescents, from public and private schools, were assessed between 2009 and 2011. Lifestyle was assessed by interview and anthropometry was used to calculatebody mass index. For the economic classification, both at pre-school age and in adolescence, the criteria recommended by the Brazilian Association of Research Companies were used. Upward social mobility was categorized as an increase by at least one class in economic status within a 10-year-period. Poisson regression was used to estimate the association between upward social mobility and the outcomes assessed. RESULTS Among all respondents (71.4% follow-up of the cohort), 60.6% had upward social mobility. Among these, 93.6% belonged to socioeconomic class D and 99.9% to economy class E. Higher prevalence of social mobility was observed for students with black skin (71.4%) and mulatto students (61.9%) enrolled in public schools (64.3%) whose mothers had less schooling in the first evaluation (67.2%) and revaluation (68.7%). After adjustment for confounding variables, upward social mobility was associated only with sedentary behavior (p = 0.02). The socioeconomic class in childhood was more associated with the outcomes assessed than was upward mobility. CONCLUSIONS Upward social mobility was not associated with most of the outcomes evaluated, possibly as it is discreet and because the period considered in the study may not have been sufficient to reflect substantial changes in lifestyle and body mass index in adolescents

Socioeconomic changes and adolescent psychopathology in a brazilian birth cohort study

Purpose: To investigate the effects of socioeconomic changes from birth to 11 years of life on emotional, conduct, and attentional/hyperactivity problems in 15-year-old adolescents, from the 1993 Pelotas (Brazil) birth cohort study. Methods: The original cohort was composed of 5,249 hospital-born children whose mothers answered a questionnaire. We conducted interviews with 87.5% and 85.7% of the original cohort in 2004e2005 and 2008, respectively. We divided family income changes into nine possible categories based on two assessment points (birth and 11 years of age) and three income levels. To assess the psychopathology of the adolescents at 15 years of age, 4,423 mothers answered the Strengths and Difficulties Questionnaire. Results: Adolescents who were always poor or who became poor between birth and 11 years of age had greater conduct problems at 15 years of age. There was no consistent association between poverty and emotional and attentional/hyperactivity problems. Conclusions: The effects of income change were more specific to conduct problems than to emotional and attentional/hyperactivity problems, similar to what has been previously described in developed countries

ADHD in DSM-5 : a field trial in a large, representative sample of 18- to 19-year-old adults

Background. The DSM criteria for adult attention-deficit/hyperactivity disorder (ADHD) have not been tested in American Psychiatric Association (APA) field trials for either DSM-IV or DSM-5. This study aimed to assess: (a) the prevalence of ADHD according to DSM-5 criteria; (b) the factor solution that provides the best fit for ADHD symptoms; (c) the symptoms with the highest predictive value for clinical impairment; and (d) the best symptomatic threshold for each ADHD dimension (inattention and hyperactivity/impulsivity). Method. Trained psychologists evaluated 4000 young adults from the 1993 Pelotas Birth Cohort Study with an instrument covering all DSM-5 ADHD criteria. A series of confirmatory factor analyses (CFAs) tested the best factor structure. Complex logistic regressions assessed differential contributions of each symptom to clinical impairment. Receiver-operating characteristic (ROC) analyses tested which would be the best symptomatic cut-off in the number of symptoms for predicting impairment. Results. The prevalence of DSM-5 ADHD was 3.55% [95% confidence interval (CI) 2.98–4.12]. The estimated prevalence of DSM-IV ADHD was 2.8%. CFA revealed that a bifactor model with a single general factor and two specific factors provided the best fit for DSM-5 symptoms. Inattentive symptoms continued to be the most important predictors of impairment in adults. The best cut-offs were five symptoms of inattention and four symptoms of hyperactivity/ impulsivity. Conclusions. Our results, combined with previous findings, suggest a 27% increase in the expected prevalence of ADHD among young adults, comparing DSM-IV to DSM-5 criteria. The DSM-5 symptomatic organization derived a similar factor structure for adults as DSM-IV symptoms. Data using DSM-5 criteria support lowering the symptomatic threshold for diagnosing ADHD in adults

Effects of selective bile duct ligation on liver parenchyma in young animals: histologic and molecular evaluations

Background/Purpose: The mechanisms of increased collagen production and liver parenchyma fibrosis are poorly understood. These phenomena are observed mainly in children with biliary obstruction (BO), and in a great number of patients, the evolution to biliary cirrhosis and hepatic failure leads to the need for liver transplantation before adolescence. However, pediatric liver transplantation presents with biliary complications in 20% to 30% of cases in the postoperative period. Intra-or extrahepatic stenosis of bile ducts is frequent and may lead to secondary biliary cirrhosis and the need for retransplantation. It is unknown whether biliary stenosis involving isolated segments or lobes may affect the adjacent nonobstructed lobes by paracrine or endocrine means, leading to fibrosis in this parenchyma. Therefore, the present study aimed to create an experimental model of selective biliary duct ligation in young animals with a subsequent evaluation of the histologic and molecular alterations in liver parenchyma of the obstructed and nonobstructed lobes. Methods: After a pilot study to standardize the surgical procedures, weaning rats underwent ligation of the bile ducts of the median, left lateral, and caudate liver lobes. The bile duct of the right lateral lobe was kept intact. To avoid intrahepatic biliary duct collaterals neoformation, the parenchymal connection between the right lateral and median lobes was clamped. The animals were divided into groups according to the time of death: 1, 2, 3, 4, and 8 weeks after surgical procedure. After death, the median and left lateral lobes (with BO) and the right lateral lobe (without BO [NBO]) were harvested separately. A group of 8 healthy nonoperated on animals served as controls. Liver tissues were subjected to histologic evaluation and quantification of the ductular proliferation and of the portal fibrosis. The expressions of smooth muscle alpha-actin (alpha-SMA), desmin, and transforming growth factor beta 1 genes were studied by molecular analyses (semiquantitative reverse transcriptase-polymerase chain reaction and real-time polymerase chain reaction, a quantitative method). Results: Histologic analyses revealed the occurrence of ductular proliferation and collagen formation in the portal spaces of both BO and NBO lobes. These phenomena were observed later in NBO than BO. Bile duct density significantly increased 1 week after duct ligation; it decreased after 2 and 3 weeks and then increased again after 4 and 8 weeks in both BO and NBO lobes. The portal space collagen area increased after 2 weeks in both BO and NBO lobes. After 3 weeks, collagen deposition in BO was even higher, and in NBO, the collagen area started decreasing after 2 weeks. Molecular analyses revealed increased expression of the alpha-SMA gene in both BO and NBO lobes. The semiquantitative and quantitative methods showed concordant results. Conclusions: The ligation of a duct responsible for biliary drainage of the liver lobe promoted alterations in the parenchyma and in the adjacent nonobstructed parenchyma by paracrine and/or endocrine means. This was supported by histologic findings and increased expression of alpha-SMA, a protein related to hepatic fibrogenesis. (C) 2012 Elsevier Inc. All rights reserved.CNPQ [478407/2008-4]CNP

Análise qualitativa de gangliosídeos em hipocampos de ratos submetidos a isquemia cerebral transitória

48

Líquen Plano Pigmentoso com Apresentação Atípica Simulando uma Máscara de Dormir

Introduction: Lichen planus pigmentosum is a variant of lichen planus observed mostly in India, the Middle East and Latin America. It usually begins in the third and fourth decade of life, with equal sex distribution and is more frequent in type III-V phototypes. Skin lesions are characterized by brownish, dark brown or brownish-gray, oval or rounded, usually symmetrical and bilateral macules.Case report: We observed a 12-year-old boy presenting typical clinical manifestations of lichen planus pigmentosum, however with an unusual clinical appearance around the eyes, resembling a sleeping mask.Conclusion: The case reported is particular due to the age of the patient and the peculiar arrangement of the lesions in the periorbicular area, resembling a "sleeping mask", which alerts to the possibility of differential diagnosis of hyperchromic and photosensitive lesions in the pediatric population.Introdução: O líquen plano pigmentoso é uma variante do líquen plano predominante na Índia, Oriente Médio e América Latina que se inicia geralmente na terceira e quarta década de vida, sem predileção por sexo, sendo mais frequente em fototipos III-V. As lesões cutâneas caracterizam-se por máculas acastanhadas, castanho escuro ou castanho-acinzentadas, ovaladas ou arredondadas, geralmente simétricas e bilaterais.Caso clínico: Relatamos o caso de uma criança do sexo masculino apresentando manifestação clínica típica da doença, com aspecto clínico incomum, assemelhando-se a uma “máscara de dormir” ao redor dos olhos.Conclusão: Este caso de líquen plano pigmentoso destaca-se pela idade da paciente (12 anos) e peculiar disposição das lesões na área periorbicular e alerta para o diagnóstico diferencial de lesões hipercrómicahipercrómicas e fotossensíveis na população pediátrica

Energetic and structural characterization of 2-R-3-methylquinoxaline-1,4-dioxides (R = benzoyl or tert-butoxycarbonyl): experimental and computational studies

The gaseous standard molar enthalpies of formation of two 2-R-3-methylquinoxaline-1,4-dioxides (R = benzoyl or tert-butoxycarbonyl), at T = 298.15 K, were derived using the values for the enthalpies of formation of the compounds in the condensed phase, measured by static bomb combustion calorimetry, and for the enthalpies of sublimation, measured by Knudsen effusion, using a quartz crystal oscillator. The three dimensional structure of 2-tert-butoxycarbonyl-3-methylquinoxaline-1,4-dioxide has been obtained by X-ray crystallography showing that the two N-O bond lengths in this compound are identical. The experimentally determined geometry in the crystal is similar to that obtained in the gas-phase after computations performed at the B3LYP/6-311 + G(2d,2p) level of theory. The experimental and computational results reported allow to extend the discussion about the influence of the molecular structure on the dissociation enthalpy of the N-O bonds for quinoxaline 1,4-dioxide derivatives. As found previously, similar N-O bond lengths in quinoxaline-1,4-dioxide compounds are not linked with N-O bonds having the same strength. Copyright (c) 2007 John Wiley & Sons, Ltd

Efeito do equilíbrio neuromuscular na análise do equilíbrio estático em idosos / Effect of neuromuscular balance on static balance analysis in the elderly

Introdução: O Envelhecimento, enquanto estado orgânico é irreversível, e o equilíbrio é um dos comprometimentos adquiridos no envelhecimento, o equilíbrio neuromuscular (ENM) foi desenvolvido por François Soulier, França, após cinco anos de estudos, ao conhecer um aparelho chamado activador methods, que é uma caneta a qual gera vibrações, criado por quiropratas, nos EUA, com o objetivo de substituir as mãos na realização de uma técnica manipulativa. Metodologia: 5 idosos, com idade de 60 a 80 anos, no local de desenvolvimento da pesquisa 5 dias por semana, com uma duração de 20 minutos por atendimento. Foram realizadas as avaliações baropodométrica desses pacientes para identificar quais os locais de divisão de massa (anterior e posterior), em seguida eles receberam o tratamento de ENM, e depois a reavaliação baropodométrica. Resultados: A técnica do ENM demostrou resultados significativos pois promoveu uma melhora na descarga do peso corporal antero-posterior. Conclusão: A técnica ENM demostrou resultados significativos no tratamento de distúrbios de equilíbrio em idosos