Navegando por Palavras-chave "Alpha1-antitrypsin deficiency"

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    Efeito da temperatura sobre o tempo de armazenagem e da concentração de sangue na avaliação de alfa 1 antitripsina coletado em papel filtro (dried blood spot - DBS)
    (Universidade Federal de São Paulo (UNIFESP), 2018-07-26) Silva, Shirlene Cristina da [UNIFESP]; Jardim, Jose Roberto de Brito [UNIFESP]; http://lattes.cnpq.br/5459496798874355; http://lattes.cnpq.br/4320654878656075; Universidade Federal de São Paulo (UNIFESP)
    Introduction Alpha-1 antitrypsin deficiency (DAAT) is a codominant autosomal genetic disorder that promotes a reduction in plasma levels of circulating AAT and is related to the development of early pulmonary emphysema, liver disease and panniculitis. It is known that DAAT is an underdiagnosed disease in clinical practice, although it has a high prevalence. The diagnosis of DAAT is made by quantifying reduced serum levels of AAT followed by phenotyping and / or genotyping. The Dried Blood Spot (DBS) technique is minimally invasive, easy to store and transport, and is feasible for implantation in population programs. Thus, we note that there is no objective study that evaluated the DBS card for AAT evaluation concomitantly in relation to storage time and temperature. Objectives: 1) To evaluate the measurement of the AAT concentration in two different eluates, one coming with a 6mm disc and the other with two 6mm discs and comparing them with the serum AAT dosage. 2) to evaluate the effect of storage temperature of DBS on the stability of alpha 1 antitrypsin glycoprotein stored in DBS at -20 ° C, 4 ° C and ambient air (24 ° C) after 24 hours and 3, 7, 15, 30, 60, 90 days. Methods: DBS samples of 29 subjects, two with diagnosis of DAAT without use of replacement therapy for at least fifteen days, were used for AAT dosing. For the preparation of the blood samples in DBS, we used the protocol of Zillmer et al. Results: There was a correlation of r = 0.82 between the values of the plasma AAT concentration and a peak in the DBS. There was a correlation of r = 0.86 between the values of the plasma AAT concentration and two pecks in the DBS. There was a correlation of r = 0.88 between the AAT concentration values with one pick and two picks in the DBS. By dividing by two the AAT value obtained with two 6 mm picks, we obtained a good correlation against the value of a 6mm pick (r = 0.88), all correlations evaluated 24 hours after collection. DBS values maintained in ambient air showed no significant change until day 15 at 4 ° C remained stable from baseline until day 30 and when DBS stored at -20 ° C remained stable relative to baseline to baseline up to 90 days. Conclusion: We present a good correlation between AAT plasma and DBS measurements. There was also a good correlation between the AAT measurement in the DBS with a 6mm pick and two 6mm picks. We verified that the AAT measurement in the DBS is stable in ambient air up to 15 days, at 4ºC up to 30 days and at -20ºC up to 90 days assess changes in AAT stability over time.