Introduction: Multiple myeloma (MM) is characterized by the abnormal proliferation of a plasma cell clone invading the bone marrow, with secretion of a monoclonal immunoglobulin (Ig), detectable by serum protein elect...Introduction: Multiple myeloma (MM) is characterized by the abnormal proliferation of a plasma cell clone invading the bone marrow, with secretion of a monoclonal immunoglobulin (Ig), detectable by serum protein electrophoresis. The aim of our work was to study the electrophoretic profile of patients with MM. Methods: This is a retrospective descriptive and analytical study including 76 patients with MM, whose serum samples were received at the Biochemistry Department of the Dalal Jamm National Hospital during the period from January 1, 2021 to April 30, 2023. For each patient, we studied epidemiological data (age, sex, service) and biochemical variables (proteinemia, electrophoresis and serum protein immunofixation). Results: The mean age of our patients was 58 ± 10.24 years, with a sex ratio of 0.9, with a female predominance (52.6%). The majority of cohort (71.1%) were consulted as outpatients. Hyperproteinemia was observed in 27.6% of patients, with a mean average of 91.2 ± 25.2 g/L, while hypoalbuminemia was found in 43.4% of patients. A monoclonal peak was noted at the Serum protein electrophoresis (SPEP) in all patients in our series, 75% of whom were in the gamma zone and 22.4% in the beta zone. Immunofixation had objectified kappa-type IgG myeloma in the majority of patients (77.8%). Conclusion: Among the biological markers of MM, serum protein electrophoresis remains the most characteristic for detecting monoclonal immunoglobulin.展开更多
Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD wher...Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD where most patients are female phenotype with clitoral hypertrophy that can go to complete masculinization especially in the presence of the SRY gene. Objective: The goal of this work is to demonstrate a relationship between the genotype and the phenotype in five patients karyotype 46, XX with the presence of the SRY gene. Methodology: The study involves five patients referred to the laboratory under suspicion of sexual development anomalies. The diagnosis took place through hormonal and echography examinations, a classic cytogenetic study (Barr chromatin and karyotype) and an amplification of the SRY gene located on the Y chromosome. The resulting PCR products were sent for sequencing. Results: Based on the results of clinical and paraclinical tests carried out it was found clitoral hypertrophy, the presence of clitoris penis for some, presence of normal penis for others. In addition, echography revealed a lack of female internal genitalia (P2, P3), and a presence of testicles (P3, P4, P5). Genetic analysis (chromosomal and molecular) showed a karyotype 46, XX SRY (+) for all patients. New mutations were found c.246 T > A, p.82 Asn82Lys and c.171 G > C, p.57 Gln57His. Conclusion: In our study, we were able to correlate each DSD with karyotype 46, XX to a pathology such as 46, XX DSD testicular, 46, XX DSD with clitoral hypertrophy and ovotestis 46, XX. The next step will undoubtedly be the integration of other molecular techniques (genotyping, FISH, CGH or even the CGH array) to further genetic exploration.展开更多
文摘Introduction: Multiple myeloma (MM) is characterized by the abnormal proliferation of a plasma cell clone invading the bone marrow, with secretion of a monoclonal immunoglobulin (Ig), detectable by serum protein electrophoresis. The aim of our work was to study the electrophoretic profile of patients with MM. Methods: This is a retrospective descriptive and analytical study including 76 patients with MM, whose serum samples were received at the Biochemistry Department of the Dalal Jamm National Hospital during the period from January 1, 2021 to April 30, 2023. For each patient, we studied epidemiological data (age, sex, service) and biochemical variables (proteinemia, electrophoresis and serum protein immunofixation). Results: The mean age of our patients was 58 ± 10.24 years, with a sex ratio of 0.9, with a female predominance (52.6%). The majority of cohort (71.1%) were consulted as outpatients. Hyperproteinemia was observed in 27.6% of patients, with a mean average of 91.2 ± 25.2 g/L, while hypoalbuminemia was found in 43.4% of patients. A monoclonal peak was noted at the Serum protein electrophoresis (SPEP) in all patients in our series, 75% of whom were in the gamma zone and 22.4% in the beta zone. Immunofixation had objectified kappa-type IgG myeloma in the majority of patients (77.8%). Conclusion: Among the biological markers of MM, serum protein electrophoresis remains the most characteristic for detecting monoclonal immunoglobulin.
文摘Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD where most patients are female phenotype with clitoral hypertrophy that can go to complete masculinization especially in the presence of the SRY gene. Objective: The goal of this work is to demonstrate a relationship between the genotype and the phenotype in five patients karyotype 46, XX with the presence of the SRY gene. Methodology: The study involves five patients referred to the laboratory under suspicion of sexual development anomalies. The diagnosis took place through hormonal and echography examinations, a classic cytogenetic study (Barr chromatin and karyotype) and an amplification of the SRY gene located on the Y chromosome. The resulting PCR products were sent for sequencing. Results: Based on the results of clinical and paraclinical tests carried out it was found clitoral hypertrophy, the presence of clitoris penis for some, presence of normal penis for others. In addition, echography revealed a lack of female internal genitalia (P2, P3), and a presence of testicles (P3, P4, P5). Genetic analysis (chromosomal and molecular) showed a karyotype 46, XX SRY (+) for all patients. New mutations were found c.246 T > A, p.82 Asn82Lys and c.171 G > C, p.57 Gln57His. Conclusion: In our study, we were able to correlate each DSD with karyotype 46, XX to a pathology such as 46, XX DSD testicular, 46, XX DSD with clitoral hypertrophy and ovotestis 46, XX. The next step will undoubtedly be the integration of other molecular techniques (genotyping, FISH, CGH or even the CGH array) to further genetic exploration.
