Articles Related to MBD
A Case of Lambda AL Type Skeletal Amyloidosis with Vascular Myopathy Achieved Clinical Response after Autologous Stem Cell Transplant
Amyloidosis involving the vascular musculoskeletal system is rare and currently, there is no standard treatment protocol for the treatment of skeletal muscle AL amyloidosis associated with vascular myopathies. Furthermore, the data on the efficacy and safety of autologous stem cell transplant is unclear. In this rare case, a biopsy-proven diagnosis of AL type amyloidosis with an unusual presentation of proximal muscle weakness significantly improved with high dose melphalan followed by autologous stem cell transplantation. The patient achieved and maintained remission for a year post-transplant
Multiple myeloma is a neoplastic disease characterized by neoplastic proliferation of plasma cells and monoclonal protein expression and related tissue damage.In the presence of overt clinical signs, the disease can easily be diagnosed, however in order to diagnose atypical cases, further investigation is needed with high clinical suspicion.
The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The MMR system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops (IDLs) and heterologies generated during DNA replication and recombination.