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Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations...

Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygo...

Lesão Renal Aguda e Rabdomiólise como Apresentação da Doença de Mcardle

A doença de McArdle apresenta-se tipicamente por mialgias, intolerância aos esforços, cãibras e mioglobinúria na infância ou jovens adultos. A deficiência hereditária da enzima miofosforílase incapacita a degradação de glicogénio, com consequente acumulação no tecido muscular e défice energético. A rabdomiólise pode ocorrer e complicar-se de lesão renal aguda mas raramente, em cerca de 11% dos casos, é manifest...

Razões para alteração da terapêutica antiretrovírica: retrospectiva de cinco anos

Population mobility and the changing epidemics of HIV-2 in Portugal

INTRODUCTION: Portugal is the European country with the highest frequency of HIV-2 infection, which is mainly concentrated in West Africa. The cumulative number of notified HIV-2 infections in Portugal was 1813 by the end of December 2008. To better characterize the dynamics of HIV-2 infection in the country and to obtain data that may be of use in the prevention of the spread of HIV-2, we evaluated a large poo...

Cellular hypomethylation is associated with impaired nitric oxide production by...

Hyperhomocysteinemia (HHcy) is a risk factor for vascular disease, but the underlying mechanisms remain incompletely defined. Reduced bioavailability of nitric oxide (NO) is a principal manifestation of underlying endothelial dysfunction, which is an initial event in vascular disease. Inhibition of cellular methylation reactions by S-adenosylhomocysteine (AdoHcy), which accumulates during HHcy, has been suggest...

Acute electrophysiologic consequences of pyridostigmine inhibition of cholinest...

The cardiovascular electrophysiologic basis for the action of pyridostigmine, an acetylcholinesterase inhibitor, has not been investigated. The objective of the present study was to determine the cardiac electrophysiologic effects of a single dose of pyridostigmine bromide in an open-label, quasi-experimental protocol. Fifteen patients who had been indicated for diagnostic cardiac electrophysiologic study under...

Immunohistochemical and molecular expression of laminin-332 gamma-2 chain in ca...

Forty-eight cases of canine mammary cancer were investigated to evaluate the immunohistochemical distribution of the γ2 chain of laminin-332. Tumor cells were compared to a pool of normal mammary tissues using quantitative RT-PCR. The western blot was performed in eight tumor samples as complementary test to evaluate protein integrity. Immunohistochemistry experiments showed negative, focal, and weak expre...

Hepatite C em toxicodependentes: acompanhamento e acesso à terapêutica

A hepatite C constitui, actualmente, um grave problema de saúde pública. Estima-se que existam, em todo o mundo, 180 milhões de pessoas com infecção crónica por vírus da hepatite C (VHC) e que a sua prevalência na população portuguesa varie entre 1 e 1,5%. Em Portugal, não existem normas de orientação actualizadas de tratamento, nem recomendações para o diagnóstico e acompanhamento dos doentes com VHC e, em...

Hepatite C em toxicodependentes: acompanhamento e acesso à terapêutica

A hepatite C constitui, actualmente, um grave problema de saúde pública. Estima-se que existam, em todo o mundo, 180 milhões de pessoas com infecção crónica por vírus da hepatite C (VHC) e que a sua prevalência na população portuguesa varie entre 1 e 1,5%. Em Portugal, não existem normas de orientação actualizadas de tratamento, nem recomendações para o diagnóstico e acompanhamento dos doentes com VHC e, em par...

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