MuSK-Ab positive myasthenia: Not always grave

Antibodies (Abs) to muscle-specific tyrosine kinase (MuSK) are detected in approximately 40% of generalized acetylcholine receptor antibody-negative myasthenia gravis (MG). Anti-MuSK Abs are nearly always associated with generalized symptoms, with prevalent involvement of craniobulbar, cervical and respiratory muscles and with a striking preponderance in women. The typical course of MuSK-MG is acute onset, rapid progression, brittle course in the first years, early respiratory crises and unprovoked relapses in spite of high-dose immunosuppression. Patients often require long-term management with multiple immunosuppressive (IS) agents and many of them remain dependent on IS treatment. The majority of anti-MuSK Abs are of the non-complement-binding IgG4 subclass. We report the case of a Greek female MuSK-MG patient with typical phenotype but clearly atypical clinical course during 12 years of follow-up. The patient received only corticosteroid treatment for one year and showed mild and stable MG symptoms under no treatment for the rest of the observation period, except for postpartum mild and short-lived exacerbation. In mildly symptomatic stable state, anti-MuSK Abs were of the IgG4 subclass and no other immunological peculiarity was detected. © 2013 Published by Elsevier B.V

Association Between Polymorphisms in MTHFR and APOA5 and Metabolic Syndrome in the Greek Population

Impaired energy homeostasis and low-grade inflammation have been related to components of the metabolic syndrome (MetS) such as dyslipidemia, obesity, and insulin resistance. Single-nucleotide polymorphisms in the genes encoding for IL-6 (g.-634G>C; c.174G>C), TNF alpha (g.-308G>A), methylenetetrahydrofolate reductase (MTHFR) (c.677C>T), APOC3 (c.3175C>G), and APOA5 (g.-1131T>C) have been implicated in the processes of inflammation and energy intake that take place in the development of MetS manifestations. The aim of this study was to investigate the association between these polymorphisms and MetS, as defined by the National Cholesterol Education Program-Adult treatment Panel III criteria, in the Greek population. Overall, 30 unrelated subjects who met the criteria of MetS and 60 matched control subjects from central Greece were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. There was a significant association between both MTHFR c.677C>T (odds ratio: 4.02; confidence interval: 1.496-10.777; p = 0.003) and APOA5 g.-1131T>C (odds ratio: 3.514; confidence interval: 1.065-11.585; p = 0.035) and MetS. Analysis of constructed haplotypes showed a highly significant association between 677C-1131T-3175C haplotype and MetS (p<0.0001). Carriers of both MTHFR c.677T and APOA5 g.-1131C were associated with increased triglyceride levels (p = 0.001 and p = 0.003, respectively), compared with noncarriers. These results support a role for MTHFR and APOA5 as risk factors for MetS and suggest their further validation in larger independent populations