Clinical and biochemical studies in mucopolysaccharidosis type II carriers

The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16-57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene. Eligibility criteria for the study also included being 16 years of age or older and being enrolled in a genetic counselling programme. The pedigree and DNA analyses allowed the identification of 40/52 carriers and 12/52 non-carriers. All women evaluated were clinically healthy, and their levels of urinary GAGs were within normal limits. Median plasma and leukocyte IDS activities found among carriers were significantly lower than the values found for non-carriers; there was, however, an overlap between carriers` and non-carriers` values. Our data suggests that MPS II carriers show lower plasma and leukocyte IDS activities but that this reduction is generally associated neither with changes in levels of urinary GAGs nor with the occurrence of clinical manifestations.

Static Knee Alignment Measurements among Caucasians and African Americans: The Johnston County Osteoarthritis Project

Objective. To determine if knee alignment measures differ between African Americans and Caucasians without radiographic knee osteoarthritis (rOA). Methods. A single knee was randomly selected from 175 participants in the Johnston County Osteoarthritis Project without rOA in either knee. Anatomic axis, condylar, tibia] plateau, and condylar plateau angles were measured by I radiologist; means were compared and adjusted for age and body mass index (BMI). Results. There were no significant differences in knee alignment measurements between Caucasians and African Americans among men or women. Conclusion. Observed differences in knee rOA occurrence between African Americans and Caucasians are not explained by differences in static knee alignment. (First Release July 15 2009; J Rheumatol 2009;36:1987-90; doi: 10.3899/jrheum.081294)

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome

We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome ( OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.

Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth to diagnosis. An interview was conducted with patient`s parents or guardians with subsequent review of patient`s medical records. One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS III: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. Median age at the onset of sings/symptoms was 18 months (MPS I: 18, MPS II: 24, MPS IVA: 8, MPS IV: 8). Skeletal abnormalities (for MPS IVA and MPS VI), joint contracures (for MPS II), and typically first signs/symptoms. Several health professionals were involved in patient`s care as of the onset of symptoms until biochemical diagnosis was established. Median age at diagnosis was 76 months (MPS I: 75, MPS II: 95, MPS IVA: 75, MPS VI: 52). Considering the group as a whole, there was a 4.8-year delay between the onset of signs/symptoms and establishment of the diagnosis. Considering that specific therapies are available for some of these disorders and that early treatment is likely to change more favorably the natural history of the disease, efforts should be made to minimize this delay. We believe that this situation can be improved by measures that both increase awareness of health professionals about MPS and improve access to diagnostic tests. (C) 2008 Wiley-Liss, Inc.

Serum cardiac troponin I concentration in dogs with ehrlichiosis

Background: Ehrlichiosis is a multisystemic disease with the potential to cause cardiomyocyte injury in naturally infected dogs. Hypothesis: Myocardial injury occurs in dogs infected with Ehrlichia canis. Animals: One-hundred and ninety-four dogs from Brazil with clinical and laboratory abnormalities indicative of ehrlichiosis. Sixteen healthy dogs served as controls. Methods: Electrocardiogram, echocardiogram, noninvasive blood pressure measurement, and serum cardiac troponin I (cTnI) concentrations were evaluated. Serologic assays and PCR determined the exposure and infection status for E. canis, Anaplasma spp., Babesia canis vogeli, Bartonella spp., Borrelia burgdorferi, Dirofilaria immitis, Ehrlichia chaffeensis, Ehrlichia ewingii, Leishmania chagasi, and spotted-fever group Rickettsia. Dogs were assigned to groups according to PCR status: E. canis infected, infected with other vector-borne organisms, sick dogs lacking PCR evidence for infection, and healthy controls. Results: E. canis-infected dogs had higher serum cTnI concentrations than controls (median: 0.04 ng/dL; range 0.04-9.12 ng/dL; control median: 0.04 ng/dL; range: 0.04-0.10 ng/dL; P = .012), and acute E. canis infection was associated with myocardial injury (odds ratio [OR]: 2.67, confidence interval [CI] 95%: 1.12-6.40, P = .027). Severity of anemia was correlated with increased risk of cardiomyocyte damage (r = 0.84, P < .001). Dogs with clinical signs of systemic inflammatory response syndrome (SIRS) were at higher risk for myocardial injury than were other sick dogs (OR: 2.55, CI 95%: 1.31-4.95, P = .005). Conclusions and Clinical Importance: Acute infection with E. canis is a risk factor for myocardial injury in naturally infected Brazilian dogs. Severity of anemia and SIRS might contribute to the pathophysiology of myocardial damage.

Protective effects of carvedilol on systemic vascular damage induced by angiotensin II: Organ-specific effects independent of antihypertensive effects

Background: The protective effect of carvedilol on multiple organ damage induced by angiotensin II (Ang II) remains unclear. The aim of this study was to evaluate the protective effect of carvedilol on the heart, liver, and kidney in rats infused with Ang II. Material/Methods: Wistar rats were randomly distributed into three groups: control (no treatment), continuously infused with Ang II (150 eta g/min for 72 hr), and treated with Ang II + carvedilol (90 mg/kg/d). Histological sections of the myocardium, kidney, and liver were analyzed for the presence of necrosis. Results: Ang II induced arterial hypertension which was not affected by carvedilol treatment (tail-cuff blood pressures, control: 125 +/- 13.6, Ang II: 163 +/- 27.3, Ang II + CV: 178 +/- 39.8 mmHg, p<0.05). Also, there were perivascular inflammation and necrosis in the myocardium, kidney, and hepatocytes necrosis around the terminal vein. Carvedilol treatment fully prevented damage to the heart and kidney and attenuated liver lesions induced by the Ang II infusion. Conclusions: The protective effect of carvedilol on perivascular damage induced by Ang II infusion depended on the target organ. The prevention of heart damage occurred independently of the antihypertensive effects of carvedilol.

Carbon hydroxylation of alkyltetrahydropyranols: A paradigm for spiroacetal biosynthesis in Bactrocera sp.

[GRAPHICS] In a number of Bactrocera species the penultimate step in the biosynthesis of spiroacetals is shown to be the hydroxylation of an alkyltetrahydropyranol followed by cyclization, The monooxygenases that catalyze this side chain hydroxylation show a strong preference for oxidation four carbons from the hemiketal center, to produce the spiroacetal, The hydroxy spiroacetals observed in Bactrocera appear to derive from direct oxidation of the parent spiroacetals and not from alternate precursors.

Structure and absolute configuration of mycobactin J

Mycobactin J 1 is a commercially available siderophore isolated from Mycobacterium avium subsp, paratuberculosis. There are discrepancies between previous reports of its structure and none have addressed its absolute configuration. We report here the complete structure and stereochemistry of mycobactin J, along with methodology to enable the determination of the absolute configuration of other mycobactins on a small scale. (C) 2001 Elsevier Science Ltd. All rights reserved.

Ellipsoidal harmonic (Lame) MRI shims

Ellipsoidal harmonics are presented as a basis function set for the design of shim coils for magnetic resonance imaging (MRI) or spectroscopy. MR shim coils may be either superconductive or resistive. Ellipsoidal harmonics form an orthogonal set over an ellipsoid and hence are appropriate in circumstances where the imaging or spectroscopic region of a magnet more closely conforms to an ellipsoid rather than a sphere. This is often the case in practice. The Cartesian form of ellipsoidal harmonics is discussed. A method for the design of streamline coil designs is detailed and patterns for third-order ellipsoidal (Lame) shims wound on a cylindrical surface are presented.

Macrophages, myofibroblasts and neointimal hyperplasia after coronary artery injury and repair

Macrophages participate in the restenosis process through the release of cytokines, metalloproteinases and growth factors. Studies of peritoneal granulation tissue suggest that macrophages may be precursors of myofibroblasts. This study examined the contribution of monocyte/macrophage lineage cells to neointimal cellular mass in a porcine model of thermal vascular injury. Thermal coronary artery injury caused medial smooth muscle cell necrosis and transformation of the media into an extracellular matrix barrier. The neointimal hyperplasia that developed over the injury sites was evaluated by light microscopy, electron microscopy and immunohistochemistry. At day 3, blood monocytes were adhered to the vessel wall and infiltrated the fibrotic media. At day 14, 42 +/- 3.9% of neointimal cells had a monocytic nuclear morphology and expressed macrophage-specific antigen SWC3 (identified by monoclonal antibody DH59B). Moreover, 9.2+/-1.8% of neointimal cells co-expressed SWC3 and alpha-smooth muscle actin and had ultrastructural characteristics intermediate between macrophages and myofibroblasts. At day 28, 10.5 +/- 3.5%, of cells expressed SWC3 and 5.2+/-1.8% of cells co-expressed SWC3 and alpha-smooth muscle actin. This study indicates that hematopoietic cells of monocyte/macrophage lineage abundantly populate the neointima in the process of lesion formation and may be precursors of neointimal myofibroblasts after thermal vascular injury. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.

Sistema de controle de remanejamento e reserva t??cnica: siscort

O Sistema de Controle de Remanejamento e Reserva T??cnica (SISCORT) ?? uma tecnologia social in??dita na gest??o p??blica. ?? um inovador instrumento de gest??o no desenvolvimento de pol??ticas p??blicas voltadas para a melhoria da qualidade da educa????o. O SISCORT, por meio de suas consultas e cadastros dispon??veis, ?? ferramenta eficaz na concretiza????o das a????es propostas. Ele facilita, registra e controla o remanejamento dos livros adquiridos e distribu??dos em todas as escolas p??blicas de ensino fundamental, no ??mbito do maior programa do g??nero no mundo, o Programa Nacional do Livro Did??tico (PNLD). Acessando o SISCORT, no s??tio eletr??nico do FNDE, ?? poss??vel saber a quantidade de livros enviados para cada escola, por t??tulo, por s??rie e por componente curricular, permitindo que as escolas, ap??s informar o seu alunado real, saibam, automaticamente, se e onde h?? excesso ou escassez de livros, proporcionando mais transpar??ncia e maior controle social dos recursos p??blicos

As relações sons e letras e letras e sons em livros didáticos de alfabetização (PNLD 2010) : limitações e desafios ao encontro de uma abordagem discursiva de linguagem

Este estudo teve como foco inicial de investigação o modo como livros didáticos de alfabetização propõem o estudo das relações entre sons e letras e letras e sons, e como essa dimensão se articula (ou não) a uma concepção de alfabetização que toma o texto como unidade de ensino. Caracteriza-se como uma pesquisa de cunho documental, trazendo para estudo produções acadêmico-científicas acerca da temática de investigação, tendências teóricas no estudo da alfabetização, o processo histórico da política de avaliação de livros didáticos no Brasil, o Guia de livros didáticos – PNLD 2010 – letramento e alfabetização – língua portuguesa – 2009 e duas coleções de livros didáticos de alfabetização, quais sejam: A Escola é Nossa – Letramento e Alfabetização Linguística; e Porta Aberta – Letramento e Alfabetização Linguística, avaliadas e selecionadas pelo Programa Nacional do Livro Didático (PNLD), na edição de 2009, para o ano letivo de 2010. Assume a hipótese de que a proposta de trabalho com as relações sons e letras e letras e sons trazida pelos livros didáticos de alfabetização, no contexto do letramento, por não tomar o texto como unidade de ensino, acaba por criar obstáculos para a própria compreensão dessas relações pelos estudantes. Toma como princípios teóricos e metodológicos a abordagem bakhtiniana de linguagem, bem como a concepção de alfabetização que baliza este estudo (GONTIJO; SCHWARTZ, 2009). Conclui que, ao não trazer os textos (gêneros discursivos) como enunciados, indiferentes à alternância dos sujeitos do discurso, os livros analisados, não obstante as poucas diferenças existentes entre um e outro, que se referem mais especificamente a informações que tangem à linguística, vão ao encontro de uma concepção de linguagem como um sistema de normas que devem ser anteriormente internalizadas pelo estudante para que este possa proceder à leitura e à escrita. Tratam, pois, a língua materna como uma língua estrangeira ou morta, como se esta fosse estática, permanecendo imune à evolução histórica. O estudo corroborou a hipótese de investigação, uma vez que, desconsiderando e/ou desconhecendo o aspecto dialógico do enunciado, os livros analisados minimizam a possibilidade da instauração de uma abordagem discursiva de linguagem, o que incide no tratamento das relações sons e letras e letras e sons que acabam por apresentarem-se dicotomizadas do texto e seu contexto discursivo e, dessa forma, sua reflexão e sistematização pelos estudantes distancia-se de um estudo dessas relações no bojo dos aspectos sócio-históricos, ideológicos, linguísticos, estilísticos, dentre outros que perpassam seu ensino. Logo, por não propiciarem um tratamento discursivo da linguagem, pouco contribuem para um tratamento “linguístico” adequado, acabando por criar obstáculos para a compreensão dessas relações pelos estudantes. Entende que conhecimentos linguísticos, principalmente referentes às variedades linguísticas e dialetais, tornam-se importantes quando da abordagem dessas relações, entretanto, estes por si sós não garantem sua apropriação. Ressalta o necessário conhecimento por parte dos professores (e autores) acerca da abordagem linguística tomada pelo livro didático de alfabetização e o resgate da autoria docente diante do ensino da língua materna, instaurando um processo autoral-dialógico da produção de conhecimentos junto aos estudantes.

Tramas e urdiduras: o protagonismo como exercício na atividade docente de professores de educação física

Trata-se de uma pesquisa-intervenção com o objetivo principal de analisar como os professores fazem exercício protagonista na atividade. Embasa-se principalmente no aporte conceitual da perspectiva ergológica de Yves Schwartz para realizar a análise da atividade no cotidiano escolar. O estudo foi desenvolvido em uma Escola Municipal de Ensino Fundamental de Serra/ES com duas professoras e um professor de Educação Física. As estratégias metodológicas utilizadas foram constituídas de acompanhamento da atividade desenvolvida pelos professores nas aulas, no Curso de Formação Permanente de Área de Educação Física, promovido pela Secretaria Municipal de Educação, participação no cotidiano escolar e a construção coletiva de um processo de formação na escola por meio de oficinas de práticas corporais. As técnicas de produção e registro dos dados foram compostas por diário de campo, fotos, conversas gravadas em áudio, entrevistas, questionário e documentos elaborados pela escola, como o Projeto Político-Pedagógico. A confrontação dos dados realizada com os docentes nas conversas produziu importantes deslocamentos nas análises e convocou autores e conceitos que não estavam previstos para o debate sobre o exercício protagonista. A produção dos dados gerou mudança na atividade docente e colocou em questão modos de gestão e organização do trabalho na Rede Serra de Educação, provocando transformações nos modelos de formação permanente dos professores de Educação Física do município. Os exercícios protagonistas empreendidos na atividade docente colocaram competências em circulação e tornaram visíveis os efeitos de trama e urdidura que atravessam e compõem a atividade docente dos professores de Educação Física no cotidiano escolar.