Project description:We analyzed samples from fourteen deaf individuals (Affected 1 through 14), fifteen hearing maternally related family members (Unaffected 1-15), six marry-in controls (Controls 1-6) from extended pedigree from Arab-Israeli village, and nine individuals from another Arab-Israeli village (Controls 7-15). All affected and unaffected maternally-related individuals carry homoplasmic mutation in the 12S rRNA gene of the mitochondrial DNA, associated with both non-syndromic and aminoglycosides-induced deafness. Keywords: Comparison of genome-wide expression in cell lines of maternally-related individuals with mitochondrial mutation and controls carrying wild-type mitochondrial chromosome.
Project description:Solitary plasmacytoma is a rare disease characterized by a localized proliferation of neoplastic monoclonal plasma cells, without evidence of systemic disease. It can be subdivided into solitary bone plasmacytoma if the lesion originates in bone, or solitary extramedullary plasmacytoma if the lesion involves a soft tissue. The incidence of solitary bone plasmacytoma is higher than solitary extramedullary plasmacytoma. Also, the prognosis is different: even if both forms respond well to treatment, overall survival and progression-free survival of solitary bone plasmacytoma are poorer than solitary extramedullary plasmacytoma due to its higher rate of evolution in multiple myeloma. However, the recent advances in the diagnosis of multiple myeloma can better refine also the diagnosis of plasmacytoma. Flow cytometry studies and molecular analysis may reveal clonal plasma cells in the bone marrow; magnetic resonance imaging or 18 Fluorodeoxyglucose positron emission tomography could better define osteolytic bone lesions. A more explicit exclusion of possible occult systemic involvement can avoid cases of misdiagnosed multiple myeloma patients, which were previously considered solitary plasmacytoma and less treated, with an unavoidable poor prognosis. Due to the rarity of the disease, there is no uniform consensus about prognostic factors and treatment. Radiotherapy is the treatment of choice; however, some authors debate about the radiotherapy dose and the relationship with the response rate. Moreover, the role of surgery and chemotherapy is still under debate. Nevertheless, we must consider that the majority of studies include a small number of patients and analyze the efficacy of conventional chemotherapy; few cases are reported concerning the efficacy of novel agents.