Genotype-phenotype correlation in Brazillian Rett syndrome patients

BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.

A new species of Pimelodus La Cépède, 1803 (Siluriformes: Pimelodidae) from rio Ribeira de Iguape basin, Brazil

Pimelodus multicratifer, a new species, is described from the rio Ribeira de Iguape basin. The new species differs from the other Pimelodus species by the following features: 26 to 30 gill rakers on the first branchial arch; a combination of three to six rows of dark spots regularly or irregularly scattered on the flanks and several small dark spots irregularly scattered on the dorsal surface of head, supraoccipital process, and sometimes on the dorsal and caudal fins; striated lips; maxillary barbels reaching between posterior tip of the pelvic-fin rays and posterior tip of the middle caudal-fin rays.

Anticorpos contra LDL-ox e síndrome coronariana aguda

FUNDAMENTO: A oxidação da lipoproteína de baixa densidade (LDL-ox) induz à formação de epítopos imunogênicos na molécula. A presença de autoanticorpos contra a LDL-ox tem sido demonstrada no soro de pacientes com doença arterial coronariana (DAC). Contudo, o papel desses autoanticorpos na fisiopatologia das síndromes coronarianas agudas (SCA) e o seu significado clínico permanecem indefinidos. OBJETIVO: Avaliar a associação entre autoanticorpos contra a LDL-ox e SCA. MÉTODOS: Os títulos de imunoglobulina G autoanticorpos contra a LDL-ox por cobre (antiLDL-ox) e contra o peptídeo sintético D derivado da apolipoproteína B (antipeptD) foram determinados por ensaio imunoenzimático (ELISA) em 90 pacientes, nas primeiras 12h de SCA (casos) e em 90 pacientes com DAC crônica (controles). RESULTADOS: Os resultados mostraram que os títulos de antiLDL-ox foram significativamente mais elevados (p = 0,017) nos casos (0,40 ± 0,22), do que nos controles (0,33 ± 0,23). Por outro lado, os títulos de antipeptD foram significativamente menores (p < 0,01) nos casos (0,28 ± 0,23) do que nos controles (0,45 ± 0,30). A diferença dos títulos de ambos anticorpos entre os dois grupos estudados foi independente de idade, sexo, hipertensão arterial, diabete melito, dislipidemia, índice de massa corporal, tabagismo, perfil lipídico, uso de estatinas e história familiar de DAC. CONCLUSÃO: Os resultados mostraram que os títulos de antiLDL-ox foram significativamente mais elevados nos pacientes com síndrome coronariana aguda quando comparados aos pacientes com doença arterial coronariana e podem estar associados à instabilidade da placa aterosclerótica.

Haciendo hologramas en la escuela y en la casa

La comunidad científica que se ocupa de los problemas relacionados con el proceso de enseñanza-aprendizaje de la físicas, ha dedicado muchos esfuerzos en los ultimos años al perfeccionamiento del mismo, motivado en primera instancia, por las demandas de renovación que el impetuoso desarrollo científico-técnico le impone en la actualidad a la enseñanza de las ciencias. En los últimos años se ha producido un desarrollo vertiginoso en la fabricación de diodos láser que emiten en el espectro visible, esto ha permitido su utilización creciente en múltiples aplicaciones y hace factible su utilización en la enseñanza aprendizaje de la física universitaria y en particular de la holografía, por sus grandes ventajas frente a los láseres convencionales de gran costo y difícil manipulación. En el trabajo se describen la instalación experimental portátil diseñada para la obtención de hologramas en la escuela y en la casa con la utilización de diodos láser, la metodología de trabajo a seguir, los métodos de procesamiento utilizados para diferentes tipos de emulsiones holográficas y un análisis de los defectos que pueden presentar los hologramas producidos y la forma de detectarlos y erradicarlos

Piaget segundo seus próprios argumentos

Neste artigo tivemos a intenção de oferecer ao leitor o resumo de um dos aspectos mais importantes da análise estrutural que realizamos, durante décadas, do texto de Jean Piaget, sobretudo as estreitas relações entre a Biologia e a Lógica na construção e na explicação do conhecimento científico. Nesse sentido, procuramos demonstrar que, a partir dos conceitos de implicação significante e de imagem mental criados por Piaget, um novo campo de investigações se abre, a saber, aquele que denominamos como o dos sistemas de significação não lógica, campo de suma relevância e que vem preencher uma secular lacuna entre a razão e a emoção até hoje presente nas pesquisas sobre os fenômenos normais e patológicos do psiquismo.

Áreas de vulnerabilidade para co-infecção HIV-aids/TB em Ribeirão Preto, SP

OBJETIVO: Identificar áreas de vulnerabilidade para os casos novos de co-infecção HIV/tuberculose (TB). MÉTODOS: Estudo descritivo ecológico realizado por meio do georreferenciamento dos casos novos de HIV/TB notificados em Ribeirão Preto, SP, em 2006. Os dados foram obtidos do sistema de informação estadual paulista de notificação de TB. Os casos novos de co-infecção HIV/TB foram analisados conforme características sociodemográficas e clínicas e, posteriormente, georreferenciados na base cartográfica do município segundo endereço residencial. Os setores do município foram categorizados em três níveis socioeconômicos: inferior, intermediário e superior, com base na análise de componentes principais das variáveis do censo demográfico de 2000 (renda, instrução e percentagem de domicílios com cinco ou mais moradores). Foi calculada a incidência da co-infecção HIV/TB para cada nível socioeconômico. RESULTADOS: A co-infecção HIV/TB acometeu mais adultos do sexo masculino em idade economicamente ativa e a forma pulmonar da TB foi a mais comum. A distribuição espacial mostrou que as incidências nas áreas com níveis socioeconômicos intermediários e inferiores (8,3 e 11,5 casos por 100 mil habitantes, respectivamente) foram superiores àquela (4,8 casos por 100 mil habitantes) de nível socioeconômico superior. CONCLUSÕES: A taxa de incidência de co-infecção HIV/TB analisada por níveis socioeconômicos mostrou padraÞo espacial de distribuiçaÞo não homogêneo e apresentou valores mais altos em áreas de maior vulnerabilidade social. O estudo diagnosticou aìreas geograìficas prioritaìrias para o controle da co-infecção e a tecnologia do sistema de informação geográfica pode ser empregada no planejamento das ações em saúde pelos gestores municipais.

Maus-tratos infantis: um resgate da história e das políticas de proteção

O estudo apresenta uma revisão bibliográfica, cujo objetivo foi conhecer e divulgar a evolução histórica da violência contra a criança, bem como as políticas desenvolvidas na atenção à violência contra menores, além de discutir a importância da prevenção e da atuação dos profissionais de saúde. A pesquisa bibliográfica foi realizada na base de dados MEDLINE, LILACS e SciELO, selecionando-se os estudos com os descritores: Violência, Agressão, Maus-Tratos, Síndrome da Criança Maltratada, Pediatria, não se fazendo restrição aos idiomas espanhol, inglês e francês. A literatura mostra a importância de ações preventivas e a necessidade de discussões e reflexões entre os diferentes setores que possam culminar em políticas e estratégias preventivas, diagnósticas e terapêuticas, além da relevância de incluir o tema na formação dos profissionais de saúde para que possam contribuir para o diagnóstico, tratamento e profilaxia do abuso infantil, rompendo as cadeias de determinação e fatalidade.

Effects of an intervention in eating habits and physical activity in Japanese-Brazilian women with a high prevalence of metabolic syndrome in Bauru, São Paulo State, Brazil

We evaluated the impact of a lifestyle intervention on the cardiometabolic risk profile of women participating in the Study on Diabetes and Associated Diseases in the Japanese-Brazilian Population in Bauru. This was a non-controlled experimental study including clinical and laboratory values at baseline and after a 1-year intervention period. 401 Japanese-Brazilian women were examined (age 60.8±11.7 years), and 365 classified for metabolic syndrome (prevalence = 50.6%). Subjects with metabolic syndrome were older than those without (63.0±10.0 vs. 56.7±11.6 years, p < 0.01). After intervention, improvements in variables were found, except for C-reactive protein. Body mass index and waist circumference decreased, but adiposity reduction was more pronounced in the abdominal region (87.0±9.7 to 84.5±11.2cm, p < 0.001). Intervention-induced differences in total cholesterol, LDL, and post-challenge glucose were significant; women who lost more than 5% body weight showed a better profile than those who did not. The lifestyle intervention in Japanese-Brazilian women at high cardiometabolic risk improved anthropometric and laboratory parameters, but it is not known whether such benefits will persist and result in long-term reduction in cardiovascular events.

Tendência da mortalidade relacionada à paracoccidioidomicose, Estado de São Paulo, Brasil, 1985 a 2005: estudou usando causas múltiplas de morte

Objetivo. Estudar a mortalidade relacionada à paracoccidioidomicose informada em qualquer linha ou parte do atestado médico da declaração de óbito. Métodos. Os dados provieram dos bancos de causas múltiplas de morte da Fundação Sistema Estadual de Análise de Dados (SEADE) de São Paulo entre 1985 e 2005. Foram calculados os coeficientes padronizados de mortalidade relacionada à paracoccidioidomicose como causa básica, como causa associada e pelo total de suas menções. Resultados. No período de 21 anos ocorreram 1 950 óbitos, sendo a paracoccidioidomicose a causa básica de morte em 1 164 (59,7%) e uma causa associada de morte em 786 (40,3%). Entre 1985 e 2005 observou-se um declínio do coeficiente de mortalidade pela causa básica de 59,8% e pela causa associada, de 53,0%. O maior número de óbitos ocorreu entre os homens, nas idades mais avançadas, entre lavradores, com tendência de aumento nos meses de inverno. As principais causas associadas da paracoccidioidomicose como causa básica foram a fibrose pulmonar, as doenças crônicas das vias aéreas inferiores e as pneumonias. As neoplasias malignas e a AIDS foram as principais causas básicas estando a paracoccidioidomicose como causa associada. Verificou-se a necessidade de adequar as tabelas de decisão para o processamento automático de causas de morte nos atestados de óbito com a menção de paracoccidioidomicose. Conclusões. A metodologia das causas múltiplas de morte, conjugada com a metodologia tradicional da causa básica, abre novas perspectivas para a pesquisa que visa a ampliar o conhecimento sobre a história natural da paracoccidioidomicose.

Genetic-morphometric variation in Culex quinquefasciatus from Brazil and La Plata, Argentina

Variation among natural populations of Culex (Culex) quinquefasciatus Say is associated with different vectorial capacities. The species Cx. quinquefasciatus is present in the equatorial, tropical and subtropical zones in the Brazilian territory, with intermediate forms between Cx. quinquefasciatus and Culex pipiens occurring in regions of latitudes around 33°-35°S. Herein, we studied geographically distinct populations of Cx. quinquefasciatus by genetic characterization and analysis of intra-specific wing morphometrics. After morphological analysis, molecular characterization of Cx. quinquefasciatus and intermediate forms was performed by polymerase chain reaction of the polymorphic nuclear region of the second intron of the acetylcholinesterase locus. Additionally, the morphology of adult female wings collected from six locations was analyzed. Wing centroid sizes were significantly different between some geographical pairs. Mean values of R2/R2+3 differed significantly after pairwise comparisons. The overall wing shape represented by morphometric characters could be divided into two main groupings. Our data suggest that Brazilian samples are morphologically and genetically distinct from the Argentinean samples and also indicated a morphological distinction between northern and southern populations of Brazilian Cx. quinquefasciatus. We suggest that wing morphology may be used for preliminary assessment of population structure of Cx. quinquefasciatusin Brazil

The impact of obstructive sleep apnea on metabolic and inflammatory markers in consecutive patients with metabolic syndrome

Background: Obstructive Sleep Apnea (OSA) is tightly linked to some components of Metabolic Syndrome (MetS). However, most of the evidence evaluated individual components of the MetS or patients with a diagnosis of OSA that were referred for sleep studies due to sleep complaints. Therefore, it is not clear whether OSA exacerbates the metabolic abnormalities in a representative sample of patients with MetS. Methodology/Principal Findings: We studied 152 consecutive patients (age 48 +/- 9 years, body mass index 32.3 +/- 3.4 Kg/m(2)) newly diagnosed with MetS (Adult Treatment Panel III). All participants underwent standard polysomnography irrespective of sleep complaints, and laboratory measurements (glucose, lipid profile, uric acid and C-reactive protein). The prevalence of OSA (apnea-hypopnea index >= 15 events per hour of sleep) was 60.5%. Patients with OSA exhibited significantly higher levels of blood pressure, glucose, triglycerides, cholesterol, LDL, cholesterol/HDL ratio, triglycerides/HDL ratio, uric acid and C-reactive protein than patients without OSA. OSA was independently associated with 2 MetS criteria: triglycerides: OR: 3.26 (1.47-7.21) and glucose: OR: 2.31 (1.12-4.80). OSA was also independently associated with increased cholesterol/HDL ratio: OR: 2.38 (1.08-5.24), uric acid: OR: 4.19 (1.70-10.35) and C-reactive protein: OR: 6.10 (2.64-14.11). Indices of sleep apnea severity, apnea-hypopnea index and minimum oxygen saturation, were independently associated with increased levels of triglycerides, glucose as well as cholesterol/HDL ratio, uric acid and C-reactive protein. Excessive daytime sleepiness had no effect on the metabolic and inflammatory parameters. Conclusions/Significance: Unrecognized OSA is common in consecutive patients with MetS. OSA may contribute to metabolic dysregulation and systemic inflammation in patients with MetS, regardless of symptoms of daytime sleepiness.

Metabolic syndrome and dietary components are associated with coronary artery disease risk score in free-living adults: a cross-sectional study

Background: Coronary artery disease (CAD) is among the main causes of death in developed countries, and diet and lifestyle can influence CAD incidence. Objective: To evaluate the association of coronary artery disease risk score with dietary, anthropometric and biochemical components in adults clinically selected for a lifestyle modification program. Methods: 362 adults (96 men, 266 women, 53.9 +/- 9.4 years) fulfilled the inclusion criteria by presenting all the required data. The Framingham score was calculated and the IV Brazilian Guideline on Dyslipidemia and Prevention of Atherosclerosis was adopted for classification of the CAD risks. Anthropometric assessments included waist circumference (WC), body fat and calculated BMI (kg/m(2)) and muscle-mass index (MMI kg/m(2)). Dietary intake was estimated through 24 h dietary recall. Fasting blood was used for biochemical analysis. Metabolic Syndrome (MS) was diagnosed using NCEP-ATPIII (2001) criteria. Logistic regression was used to determine the odds of CAD risks according to the altered components of MS, dietary, anthropometric, and biochemical components. Results: For a sample with a BMI 28.5 +/- 5.0 kg/m(2) the association with lower risk (<10% CAD) were lower age (<60 years old), and plasma values of uric acid. The presence of MS within low, intermediary, and high CAD risk categories was 30.8%, 55.5%, and 69.8%, respectively. The independent risk factors associated with CAD risk score was MS and uric acid, and the protective factors were recommended intake of saturated fat and fiber and muscle mass index. Conclusion: Recommended intake of saturated fat and dietary fiber, together with proper muscle mass, are inversely associated with CAD risk score. On the other hand, the presence of MS and high plasma uric acid are associated with CAD risk score.

Prediction of good glass formers in the Al-Ni-La and Al-Ni-Gd systems using topological instability and electronegativity

A new criterion has been recently proposed combining the topological instability (lambda criterion) and the average electronegativity difference (Delta e) among the elements of an alloy to predict and select new glass-forming compositions. In the present work, this criterion (lambda.Delta e) is applied to the Al-Ni-La and Al-Ni-Gd ternary systems and its predictability is validated using literature data for both systems and additionally, using own experimental data for the Al-La-Ni system. The compositions with a high lambda.Delta e value found in each ternary system exhibit a very good correlation with the glass-forming ability of different alloys as indicated by their supercooled liquid regions (Delta T(x)) and their critical casting thicknesses. In the case of the Al-La-Ni system, the alloy with the largest lambda.Delta e value, La(56)Al(26.5)Ni(17.5), exhibits the highest glass-forming ability verified for this system. Therefore, the combined lambda.Delta e criterion is a simple and efficient tool to select new glass-forming compositions in Al-Ni-RE systems. (C) 2011 American Institute of Physics. [doi: 10.1063/1.3563099]

Eccentric Hip Muscle Function in Females With and Without Patellofemoral Pain Syndrome

Context: Patellofemoral pain syndrome (PFPS) is a common knee condition in athletes. Recently, researchers have indicated that factors proximal to the knee, including hip muscle weakness and motor control impairment, contribute to the development of PFPS. However, no investigators have evaluated eccentric hip muscle function in people with PFPS. Objective: To compare the eccentric hip muscle function between females with PFPS and a female control group. Design: Cross-sectional study. Setting: Musculoskeletal laboratory. Patients or Other Participants: Two groups of females were studied: a group with PFPS (n = 10) and a group with no history of lower extremity injury or surgery (n = 10). Intervention(s): Eccentric torque of the hip musculature was evaluated on an isokinetic dynamometer. Main Outcome Measure(s): Eccentric hip abduction, adduction, and external and internal rotation peak torque were measured and expressed as a percentage of body mass (Nm/kg x 100). We also evaluated eccentric hip adduction to abduction and internal to external rotation torque ratios. The peak torque value of 5 maximal eccentric contractions was used for calculation. Two-tailed, independent-samples t tests were used to compare torque results between groups. Results: Participants with PFPS exhibited much lower eccentric hip abduction (t(18) = -2.917, P = .008) and adduction (t(18) = -2.764, P =.009) peak torque values than did their healthy counterparts. No differences in eccentric hip external (t(18) = 0.45, P = .96) or internal (t(18) = -0.742, P =.47) rotation peak torque values were detected between the groups. The eccentric hip adduction to abduction torque ratio was much higher in the PFPS group than in the control group (t(18) = 2.113, P = .04), but we found no difference in the eccentric hip internal to external rotation torque ratios between the 2 groups (t(18) = -0.932, P = .36). Conclusions: Participants with PFPS demonstrated lower eccentric hip abduction and adduction peak torque and higher eccentric adduction to abduction torque ratios when compared with control participants. Thus, clinicians should consider eccentric hip abduction strengthening exercises when developing rehabilitation programs for females with PFPS.

Um modo de ler um livro-biblioteca: a reescritura perecquiana na composição de La vie mode d'emploi

This article presents and analyses some aspects of Georges Perec's composition as shown in his book Life: a user's manual (1978). Starting with the image of a ""book-library"", composed by some of Perec's literary 'models', and discussing the theory of intextertuality and rewriting, we propose to analyse some possible approximations between Perec and Flaubert, especially in the latter's Bouvard and Pecuchet (1881).