Wilson's disease: an analysis of 28 Brazilian children

OBJECTIVES: Clinical-laboratory and evolutionary analysis of twenty-eight patients with Wilson's disease. METHODS: Twenty-eight children (twelve females and sixteen males) with Wilson's disease were evaluated retrospectively between 1987 and 2009, with a follow-up of 72 months (1 -240 months). The clinical, laboratory, and histologic features at diagnosis were recorded at the end of the study. RESULTS: The median age at diagnosis was 11 years (2 -18 years). Twelve patients were asymptomatic, seven had hepatitis symptoms, five had raised aminotransferase levels, three had hepatomegaly associated with neurological disorders, one had fulminant hepatitis with hemolytic anemia, and six patients presented with a Kayser-Fleischer ring. A histological analysis revealed that six children had chronic hepatitis, seven had cirrhosis, two had steatosis, one had portal fibrosis, and one had massive necrosis. The treatment consisted of D-penicillamine associated with pyridoxine for 26 patients. Adverse effects were observed in the other two patients: one presented with uncontrollable vomiting and the other demonstrated elastosis perforans serpiginosa. At the end of the study, all 26 treated patients were asymptomatic. Twenty-four of the patients were treated with D-penicillamine and pyridoxine, and two were treated with trientine and zinc sulfate. A liver transplant was performed in one patient with fulminant hepatitis, but the final patient died 48 hours after admission to the intensive care unit. CONCLUSIONS: Family screenings associated with early treatment are important in preventing Wilson's disease symptoms and potentially fatal disease progression. The study suggests that Wilson's disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far.

Análise de desempenho de índices de instabilidade atmosférica na previsão de fenômenos convectivos de mesoescala na região metropolitana de São Paulo entre 28 de janeiro e 04 de fevereiro de 2004

Discute-se o potencial prognóstico de índices de instabilidade para eventos convectivos de verão na Região Metropolitana de São Paulo. Cinco dos oito dias do período analisado foram considerados chuvosos, com observação de tempestades a partir do meio da tarde. O Índice K (IK) obteve valores abaixo de 31 nos 5 eventos, afetado pela presença de uma camada fria e seca em níveis médios da atmosfera em relação aos baixos níveis. O Índice Total Totals (ITT) falhou na detecção de severidade em 3 dos 5 eventos, apresentando valores inferiores ao mínimo limiar tabelado para fenômenos convectivos (ITT < 44) nesses dias. O Índice Levantado (IL) variou entre -4.9 e -4.3 em todos os 5 casos, valores associados a instabilidade moderada. O Índice de Showalter (IS) indicou possibilidade de tempestades severas em 4 dos 5 casos. Tanto o IS como o CAPE Tv tiveram seus valores fortemente reduzidos em uma sondagem com camada isotérmica entre 910 e 840 hPa. As séries temporais de CAPE Tv e IL mostraram significativa concordância de fase, com alta correlação linear entre ambas. CINE Tv ≈ 0 J kg-1 em associação com baixo cisalhamento vertical e com IS, IL e CAPE Tv, pelo menos moderados, parecem ser fatores comuns em dias de verão com chuvas abundantes e pequena influência da dinâmica de grande escala na área de estudo.

3C 273 variability at 7 mm: evidence of shocks and precession in the jet

We report on four years of observations of 3C 273 at 7mm obtained with the Itapetinga radio telescope, in Brazil, between 2009 and 2013. We detected a flare in 2010 March, when the flux density increased by 50 per cent and reached 35 Jy. After the flare, the flux density started to decrease and reached values lower than 10 Jy. We suggest that the 7-mm flare is the radio counterpart of the γ -ray flare observed by the Fermi Large Area Telescope in 2009 September, in which the flux density at high energies reached a factor of 50 of its average value. A delay of 170 d between the radio and γ -ray flares was revealed using the discrete correlation function (DCF) that can be interpreted in the context of a shock model, in which each flare corresponds to the formation of a compact superluminal component that expands and becomes optically thin at radio frequencies at latter epochs. The differences in flare intensity between frequencies and at different times are explained as a consequence of an increase in the Doppler factor δ, as predicted by the 16-yr precession model proposed by Abraham & Romero. This increase has a large effect on boosting at high frequencies while it does not affect the observed optically thick radio emission too much. We discuss other observable effects of the variation in δ, such as the increase in the formation rate of superluminal components, the variations in the time delay between flares and the periodic behaviour of the radio light curve that we have found to be compatible with changes in the Doppler factor.