Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.1448_1461del14+29). Although these lesions occurred on the same paternally-derived X chromosome, this is probably due to chance co-occurrence owing to the relatively high mutation rate of the MECP2 gene rather than to a constitutional mutator phenotype

Níveis plasmáticos de taurina e de seus precursores em pacientes com câncer de esôfago Plasma taurine levels in patients with esophagus cancer

RACIONAL: O câncer de esôfago tem impacto relevante no metabolismo protéico do hospedeiro, mas pouco se conhece sobre as implicações no metabolismo protéico sulfurado. Deste, destaca-se a taurina, composto participante de várias funções fisiológicas importantes como a manutenção do sistema de defesa celular e possível sobrevida do paciente. OBJETIVO: Estudar as variações plasmáticas da taurina e de seus precursores em pacientes com câncer de esôfago. MÉTODO: Em estudo transversal foram triados 16 pacientes (43-73 anos) com câncer de esôfago e 20 voluntários (27-65 anos) controles sadios que preencheram os critérios clínicos e éticos da pesquisa. Para caracterização do estado geral de saúde efetuou-se avaliação antropométrica, hematimétrica (Hb, Ht, glóbulos brancos, linfócitos) e bioquímica (albumina, glicose, lipídios, aminotransferases). Adicionalmente, foram realizadas, no plasma, análises cromatográficas de taurina e seus precursores cisteína e homocisteína. Foi registrado o tempo de sobrevivência dos pacientes, a partir do diagnóstico histopatológico. RESULTADOS: Os pacientes com câncer de esôfago foram predominantemente do sexo masculino, raça branca, classe socioeconômica baixa, tipo carcinoma espinocelular de localização no terço superior, em estádio IV, sobrevida de 7,8 ± 5,5 anos, referindo perda de peso em 16,4% e apresentando hipoalbuminemia em 50%, com massa muscular e adiposa semelhante ao controle. Os pacientes apresentaram valores estatisticamente menores do que os controles para Hb, Ht, colesterol total, HDL-colesterol e cisteína e maiores de AST, ALT, taurina e homocisteína. Dentre os pacientes houve correlação positiva da taurina tanto com a contagem total de linfócitos, como com a sobrevida dos pacientes. CONCLUSÃO: Os níveis reduzidos de cisteína e elevados de homocisteína, taurina e as associações positivas da taurina com os indicadores da imunocompetência celular e da mortalidade sugerem participação efetiva da taurina na sobrevida dos pacientes e, portanto, os cuidados nutricionais específicos com a sua via geradora (cisteína, metionina e vitaminas do complexo B).<br>BACKGROUND: The esophagus cancer-host has a two way close relationship as seen in its sulphur-amino acid metabolism. Taurine one of these compounds has ubiquous role in host defense and other physiological mechanisms related to survival. AIM: To study the plasma levels of taurine and its precursors in patients with esophagus cancer. METHODS: In a sectional design both groups, patients (n = 16, 43-73 yrs old) and healthy controls (n = 20, 27-65 yrs old) were assessed for anthropometry, body-weight lost, hematology (Hb, Ht, total leukocytes and lymphocyte counts), general biochemistry (albumin, glucose, lipids and aminotransferases) and chromatographic analysis for taurine, cysteine, and homocysteine. The survival time was registered there since from the clinical-histopathological diagnosis. All participants had a written ethical consent for the research. RESULTS: The cancer patients were predominantly, white males of low social economic class, with spinocellular carcinoma stage IV located at upper 3rd half of them presented hypoalbuminemia and 16% referred significant body-weight loss. The patients showed statistically lower values of Hb, Ht, total and HDL cholesterol and cysteine and significantly higher values of taurine, homocysteine and aminotransferases than healthy controls. A positive relationship was found between taurine and either TLC (r = 0.50) and survival (r = 0.81). CONCLUSIONS: Lower plasma cysteine along with higher levels of taurine and homocysteine and the positive direct association of taurine with indications of survival suggest an effective role of this compound and therefore a prospective special nutritional care in its precursors (cysteine, methionine and B vitamins) of these patients

In situ Effect of Nanohydroxyapatite Paste in Enamel Teeth Bleaching

Federal University of Para. Department of Restorative Dentistry. Belem, PA, Brazil.Federal University of Para. Department of Restorative Dentistry. Belem, PA, Brazil.Federal University of Para. Department of Restorative Dentistry. Belem, PA, Brazil.Federal University of Para. Department of Restorative Dentistry. Belem, PA, Brazil.Ministério da Saúde. Secretaria de Vigilância em Saúde. Instituto Evandro Chagas. Departamento de Toxicologia. Ananindeua, PA, Brasil.Federal University of Para. Department of Restorative Dentistry. Belem, PA, Brazil.AIM: Evaluate in situ the effect of nanohydroxyapatite paste (nano-HAP) before bleaching with hydrogen peroxide 35% (HP35%) by ion chromatography (IC) Knoop hardness number (KHN) and tristimulus colorimetry (TC). MATERIALS AND METHODS: A total of 60 fragments were obtained from third molars included (3 mm × 3 mm × 3 mm) and the specimens were divided into three groups (n = 20): Gas chromatography (CG) (negative control group) = no bleaching; HP35% (positive control group) = HP35% whitening (whiteness HP35%); nano-HAP = application for 10 minutes before bleaching treatment + HP35%. The specimens were fixed to the volunteers' molars. The KHN and TC were measured before and after bleaching. For IC, the dentin layer was removed, leaving the enamel that was crushed, and autoclaved for chemical quantification (calcium, fluorine, and phosphorus). The results of KHN and TC were analyzed statistically by analysis of variance (ANOVA) followed by Tukey test (p < 0.05). RESULTS: The HP35% group showed reduction of the Ca, F, and P ions. The initial and final KHN mean of the CG and nano-HAP did not differ statistically; however, the group of HP35% did differ statistically. The mean ΔE of the HP35% and nano-HAP groups did not differ statistically from each other. However, they differed from the CG. CONCLUSION: The nano-HAP paste preserved the KHN, promoted the lower loss of Ca and P ions and an increase of F ions when compared with the CG, but did not influence the effectiveness of the bleaching treatment. CLINICAL SIGNIFICANCE: Nano-HA is a biomaterial that has shown positive results in the prevention of deleterious effects on the enamel by the action of the office bleaching treatment