Avaliação do emprego de um novo método de triagem molecular da síndrome do cromossomo X frágil em indivíduos brasileiros

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Caracterizaçõ da linguagem na síndrome do X-frágil: estudo bibliográfico.

BACKGROUND: X-Fragile Syndrome. AIM: To compile information about the language, cognitive and behavior alterations in the X-Fragile Syndrome, using the results of previously published studies and to present the standardized instruments used as testing materials. CONCLUSION: studies used formal and informal testing to assess language. The results present variability regarding the linguistic deficits, which are influenced by the level of the cognitive deficit and behavior alterations. Alterations of the oral praxes and of speech articulation are also expected.

Estudo citogenético, regiões 2q37e 22q13.3 e condições médicas em doenças do espectro autístico

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Effect of Citrus aurantium l. essential oil on muscle regeneration in mdx mice

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder characterized by the progressive loss of muscular strength. Mdx mutant mice show a marked deficiency in dystrophin, which was related to muscle membrane stability. The aim of this study was to verify the possible protective anti-inflammatory effect of citrus oil on mdx muscle fibers. Thus, adult male and female mdx mice (014/06-CEEA) were divided into control and citrus-treated. After 60 days of treatment, one ml of blood was collected for creatine kinase (CK) test. Diaphragm, sternomastoideus, anterior tibial and gastrocnemius muscles were removed and processed according to histological routine methods. The observed alterations indicate a direct effect of citrus. Recent studies have improved the diagnosis of muscular diseases but with no definitions of efficient treatments. Intervention with several therapies is important to many patients presenting muscular dystrophy, which enables them to live longer and be more active, while there is no development of gene therapies.

Educação do aluno com autismo: um estudo circunstanciado da experiência escolar inclusiva e as contribuições do currículo funcional natural

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Hemofilia A em cão: relato de caso

Hemophilia A is an X-linked inherited disorder characterized by a Factor VIII (FVIII) deficiency, being therefore transmitted by female dogs to their offspring. Since it is a secondary hemostatic defect, the main clinical signs are hematomas and deep hemorrhage in body cavities, muscles and joints. A four-month-old male Boxer was presented to the Veterinary Hospital at the School of Veterinary Medicine and Animal Science in Botucatu with excessive bleeding due to an incision made three days prior by another veterinarian to drain a local hematoma. Laboratory results showed platelet count within the reference range, as well as prolonged whole blood clotting and activated partial thromboplastin times. FVIII activity was 0,96%, which characterizes the most severe degree of hemophilia A.

Karyotype characterization of Mugil incilis Hancock, 1830 (Mugiliformes: Mugilidae), including a description of an unusual co-localization of major and minor ribosomal genes in the family

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Hipotireoidismo em cães: revisão

Hypothyroidism is one of the most frequent endocrinopathies in dogs, affecting preferentially middle-aged, pure breed animals. Associated clinical signs are variable and often non-specific, including metabolic, dermatological or cardiovascular alterations. The main laboratorial findings are non-regenerative anemia and hypercholesterolemia. Hyponatremia and an increase in alanine transferase and alkaline phosphatase activities can also be observed with lower frequency. There are specific diagnostic tests that can be used to help diagnose hypothyroidism, and those should be interpreted in the light of the animal´s clinical symptoms. The levels of thyroxine stimulating hormone (TSH) and both free and total thyroxine (T4) are the most used hormonal tests. It is important to differentiate between hypothyroidism and the euthyroid sick syndrome, a condition that may be caused by severe diseases such as hyperadrenocorticism and lead to decreased TSH and T4 levels as well. Levothyroxine sodium is the standard treatment. The main objective of this paper is to review hypothyroidism in dogs, since this is a very common disease in small animal clinics, but with difficult diagnosis.

Prevenção da síndrome metabólica em crianças obesas: uma proposta de intervenção

OBJETIVO: Analisar o efeito de 12 semanas de intervenção envolvendo prática de atividade física, orientações alimentar e psicológica sobre fatores de risco para o desenvolvimento da síndrome metabólica em crianças e adolescentes obesos. MÉTODOS: Estudo longitudinal com 23 crianças e adolescentes obesos, com idade entre seis e 16 anos (12,0±3,2 anos). Foram mensurados: gordura corporal total e de tronco, glicemia, colesterol total e triglicérides, pressão arterial sistólica e diastólica. Os jovens foram submetidos a três sessões semanais de 60 minutos de exercício físico (atividades esportivas recreativas, ginástica, circuitos e caminhadas), durante 12 semanas. O teste do qui-quadrado foi usado para comparar dados categóricos daqueles que apresentaram valores acima das recomendações para cada fator de risco. O teste t para dados pareados foi aplicado para comparar os dois momentos do estudo. RESULTADOS: em indivíduos com alterações metabólicas no início do estudo, observou-se, após a intervenção, a diminuição de 11,6% na glicemia (105 para 93mg/dL; p=0,046) e de 24,9% no triglicérides (217 para 163mg/dL; p=0,013); porém, não houve diferenças na pressão arterial e no colesterol total. CONCLUSÕES: O programa de exercício físico aplicado nas crianças e adolescentes foi eficiente para melhorar os valores de glicemia e triglicérides.

Síndrome metabólica em adolescentes do sexo feminino com sobrepeso e obesidade

OBJETIVO: Avaliar parâmetros bioquímicos e fisiológicos em adolescentes do sexo feminino com sobrepeso/obesidade ou com peso corporal normal e avaliar se fatores de risco cardiovascular, postulados como componentes da síndrome metabólica, já estão presentes nessa faixa etária. MÉTODOS: Estudo transversal, tendo-se comparado a totalidade de meninas com idades entre 12 e 18 anos de um colégio de Ribeirão Preto, divididas em dois grupos: sobrepeso/obesidade (n=30) e controle (n=39). de cada menina, foram avaliados parâmetros antropométricos (peso, estatura, dobras cutâneas, circunferências do abdome e do quadril) e bioquímicos (glicose, insulina, lipidograma, ureia, creatinina, fibrinogênio, PAI-1, ferritina, sódio e microalbuminúria). RESULTADOS: As adolescentes com sobrepeso/obesidade apresentaram níveis maiores de pressão arterial, glicose, triglicérides, ácido úrico, PAI-1, fibrinogênio e insulina e níveis menores de colesterol-HDL em relação ao grupo controle. A análise de alterações e formação de clusters de fatores de risco demonstrou que 76,7% das adolescentes do grupo sobrepeso apresentaram dois ou mais fatores de risco relacionados à síndrome metabólica, enquanto 79,5% das adolescentes do grupo controle apresentaram nenhuma ou apenas uma alteração. Os parâmetros microalbuminúria e ferritina sérica não apresentaram alterações e diferenças entre os grupos. CONCLUSÕES: Adolescentes do sexo feminino com sobrepeso/obesidade já apresentam hipertensão, dislipidemias, disfibrinólise, hiperinsulinemia e clusters de fatores de risco cardiovascular.

Displasia ectodérmica hipohidrótica: un síndrome de interés para la odontología

Hypohidrotic ectodermal dysplasia (HED) is a rare disease of genetic etiology. The most frequent form is of recessive linked to X-chromosome inheritance with affected male and female carriers. It can occur through autosomal mutations, of the gene EDA1 gene being responsible for the majority of the cases. It is characterized by the triad: hypohidrosis, oligodontia and hypotrichosis. We present two cases of patients with HED in which we observed characteristic signs of this syndrome: delicate skin, sparce hair, eyebrows and eyelashes, periorbital wrinkles, perioral and periorbital hyperpigmentation, prominent lips, in addition the patient in case 2 also present the depressed nasal bridge. We also found decreased salivary and lacrimal secretion and maxillary hypoplasia in both cases. At the oral examination in case 1 the upper right and left deciduous canines and lower right deciduous canine were present, and in case 2 the upper and lower (right and left) deciduous canines and two upper (one right and other left) permanent incisors were present with altered morphology, all of these dental elements were healthy. The early dental treatment of patients with HED, especially in the presence of oligodontia, as observed in our cases, is important not only to provide a better quality of life for these patients in the short term, but also an attempt to minimize the changes in facial growth to which these patients are subject.