RESUMEN
Inherited lysosomal storage diseases (LSDs) are rare, and diagnosis is often delayed for 7-10 years. Since the therapies have become available for a limited number of LSDs, (Fabry, Gaucher, Pompe, and MPS-1), early diagnosis of treatable LSDs can be lifesaving or ameliorating and allows timely treatment before irreversible damage occurs. Recently, the use of dried blood spot test (DBS) for newborn screening of LSDs has been proposed for newborn screening tests. They are noninvasive, sensitive, and specific assays with the further advantage of a fast turnaround time compared to measurement in leukocyte and/or fibroblast culture. We aimed to determine the reference intervals for lysosomal enzyme activities of newborn babies in our population and to investigate the effect of gestational week on enzyme activity. One hundred thirty healthy newborn babies (70 girls, 60 boys) were included into the study. α-Glycosidase, ß-glycosidase, and α-galactosidase activities in DBS samples of newborns were determined fluorometrically. Reference intervals were calculated using Dixon's rule and percentiles of 2.5-97.5. Cutoff limits (5 %) for α-glycosidase, ß-glycosidase, and α-galactosidase activities were 0.57, 0.92, and 2.18, respectively. α-Galactosidase activity was higher in girls compared to boys (p < 0.05). Interestingly, α-glycosidase and ß-glycosidase activities of newborns who were delivered before 38 weeks were significantly lower than those who were delivered at 39-40 weeks. Conclusion It is of utmost importance to define the reference intervals for lysosomal enzyme activities as well as cutoff limits for newborn babies with regard to gestational age and sex. More studies to clarify the reason for the change in enzyme activity by gestational week will be required.
Asunto(s)
Pruebas con Sangre Seca , Glicósido Hidrolasas/sangre , Enfermedades por Almacenamiento Lisosomal/diagnóstico , Tamizaje Neonatal/métodos , alfa-Galactosidasa/sangre , Biomarcadores/sangre , Femenino , Edad Gestacional , Humanos , Recién Nacido , Enfermedades por Almacenamiento Lisosomal/sangre , Enfermedades por Almacenamiento Lisosomal/enzimología , Masculino , Valores de Referencia , Factores Sexuales , TurquíaRESUMEN
Propolis is a natural product produced by honeybees. It has antioxidant effects as well as antimicrobial, antiseptic, antibacterial, anti-inflammatory and antimutagenic properties. Except these important healthy properties some cytotoxic effects causing allergies also have been reported. In this study have been evaluated changes of phenolic compounds including allergens molecules found in propolis. Before biotransformation, propolis samples were treated with different solvent (ethanol and polyethylene glycol) to facilitate solvation of solid samples. Biotransformation was done by three different strains of Lactobacillus plantarum (10, 8014, ATCC). Results demonstrated the importance of used solvent/treatment for extraction procedure and strains of L. plantrum. The lowest values of main allergens were determined as 321 ng/mL for BCAFE, 320 ng/mL for 1.1 DMAECAFE and 8.02 ng/mL for CAPE. The study is the first work deal with evaluation of bioconversion of propolis by different L. plantarum strains and their effects on phenolic profile.