RESUMO
Analysis of expressed mRNAs with differential display-polymerase chain reaction [DD-PCR] is a powerful tool for the characterization of genes involved in malignant pathways and might identify markers for different phases of chronic myelogenous leukaemia [CML]. We examined the presence of BCR-ABL transcripts in 25 CML patients in either the chronic phase or blast crisis. We then analysed the expression of leukocytic RNA transcripts in CML phases. DD-PCR technique was used to examine CML cases with BCR-ABL in comparison with CML cases lacking detectable BCR-ABL transcripts. Our results support the use of differential display not only for characterization of the CML differentially expressed genes but also to locate patterns that can be implemented as valuable fingerprints for each phase of CML
Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Processamento Alternativo/genética , Autorradiografia , Crise Blástica/genética , Análise Citogenética , Proteínas de Fusão bcr-abl/genética , Perfilação da Expressão Gênica/métodos , Genes abl/genética , RNA Mensageiro/genética , RNA Neoplásico/genéticaRESUMO
Early diagnosis of toxoplasmosis in pregnant women can be of great help in early intervention and prevention of congenital disorders that usually lead to fetal death. The purpose of the present study was to evaluate nested PCR amplification of the B1 gene of Toxoplasma gondii before and after treatment and in comparison to serological follow-up during treatment. The efficiency of treatment on the bases of PCR detection of T. gondii DNA was statistically significant, while it was insignificant when anti-toxoplasma specific IgM and IgG antibodies were used. PCR detection of T. gondii DNA when performed on whole blood is a rapid, sensitive and specific diagnostic procedure and is a valuable tool for establishing the diagnosis of T. gondii infection in women before or during pregnancy
Assuntos
Humanos , Feminino , Reação em Cadeia da Polimerase , Imunoglobulinas , Imunoglobulina M , Imunoglobulina G , Toxoplasma/isolamento & purificação , GravidezRESUMO
The present study deals with investigation of the biochemical abnormality and the metabolic disorders which may be the cause or contribute significantly to the cause of mental retardation [MR]. The study included 203 mentally retarded children who were subjected to qualitative chemical tests on urine for the detection of certain defects in amino acid and carbohydrate metabolism. Thin layer chromatographic detection of specific amino acids in plasma and urine, and the quantitative determination of urea, creatinine, ammonia and uric acid in plasma, argininosuccinase and argininase enzyme activities in erythrocytes; mucopolysaccharides and creatinine in urine were also investigated. It was found that in 92 patient, mental retardation is accompanied by metabolic disorders. These comprise disorders in amino acid transport [10.6%] urea cycle abnormalities [17.4%], generalized amino acid urea [10.8%], miscellaneous aminoacidopathies [25%] and defects in carbohydrate metabolism [26.1%]. The plasma levels of urea, uric acid and creatinine in patients with disorders in aminoacid transport were unchanged indicating normal kidney function. Patients with urea cycle abnormalities showed deficiency in different enzymes controlling urea formation with elevation in plasma ammonia and decrease in plasma urea. Patient with carbohydrate metabolism disorders showed increased urinary mucopolysaccharides. These metabolic disorders were discussed on the basis of the findings obtained and the genetic defect that led to the respective metabolic disorder. According to results of this work, it is highly recommended to carry out genetic counselling in calculating the possibilities for recurrence risk of hereditary disorders and in detecting any metabolic abnormality to prevent the onset of mental retardation. Early detection of these cases and evaluation of specific treatment will be valuable for the management of these cases