Could the mosaic pattern of chromosomal abnormality predict overall survival of patients with myelodysplastic syndrome?

Objective/background: Myelodysplastic syndromes [MDSs] are a group of monoclonal hematopoietic diseases consisting of a number of various entities. The presence of differences in chromosomal content of cells within the same individual is known as chromosomal mosaicism. The impact of mosaic pattern on the prognosis of MDS has been unclear. In this study, we aimed to determine the impact of mosaic pattern on the survival of patients with MDS

Methods: We retrospectively evaluated 119 patients diagnosed with MDS at the Trakya University Faculty of Medicine, Department of Hematology. Giemsa-Trypsin-Giemsa banding was used to evaluate chromosomal abnormality. The effect of chromosomal abnormality mosaicism on overall survival and transformation to acute leukemia was evaluated by Kaplan-Meier survival analysis

Results: The mean age at diagnosis was 66.3 years, and the mean disease duration was 24.2 months. Chromosomal abnormality was observed in 32.5% of patients. Patients with chromosomal abnormalities comprising at least 50% metaphases had significantly lower overall survival than patients with abnormality comprising up to 50% of all abnormal metaphases [p = .003]. There were no differences in transformation to acute leukemia among patients with higher and lower chromosomal mosaicism [p = .056]

Conclusion: The most important outcome of this study was to demonstrate worse overall survival rates in MDS patients with higher abnormal chromosomal mosaicism than patients with lesser abnormal chromosomal mosaicism. Higher levels of abnormal chromosomal mosaicism did not predict transformation to acute leukemia. The cause of worse outcomes of patients with higher abnormal chromosomal mosaicism may be related to clonal mass

Brucellosis triggering hemolytic anemia in glucose-6-phosphate dehydrogenase deficiency

To present a case of acute brucellosis triggering acute hemolytic anemia in a subject with glucose-6-phosphate dehydrogenase [G6PD] deficiency. A 17-year-old male patient presented with fever, malaise and jaundice. His blood and bone marrow cultures yielded Brucella species. In addition, he was found to have acute hemolytic anemia due to previously undiagnosed G6PD deficiency. He was started on folic acid supplementation and given a combination of doxycycline and rifampicin for 6 weeks. His response to antibiotic therapy was optimal; the hemolytic anemia resolved. There were no further episodes of hemolysis. This case showed that the differential diagnosis of acute hemolytic anemia in subjects with G6PD deficiency should include brucellosis, especially in regions where the infection is endemic

Association of Secondary Amyloidosis with Common Variable Immune Deficiency and Tuberculosis

This paper describes the first case of common variable immunodeficiency (CVID) and AA amyloidosis. A recently treated tuberculosis, and chronic inflammation induced by frequent respiratory tract infections, were thought to be responsible for the amyloidosis. No other reason for this condition could be detected. Although T cell dysfunction in some CVID patients has been reported, pulmonary tuberculosis is quite rare with this condition. Bacterial or viral agents or evidence in favour of intestinal tuberculosis, which would explain this patient's recurrent diarrhea, were not found. In this case, the response of the attacks of diarrhea to metranidazole and the histologic observation of extensive intestinal amyloid deposition, which is known to decrease intestinal motility, made us conclude that the diarrhea was associated with bacterial overgrowth. In this report, we discuss the association of CVID and tuberculosis to secondary amyloidosis and recurrent diarrhea.