MEN 2B CASES WITH ATYPICAL PRESENTATION, UNUSUAL CLINICAL COURSE AND A LITERATURE REVIEW.

Background: Multiple endocrine neoplasia type 2B (MEN 2B) is a rare hereditary syndrome caused mainly by Met918Thr germline RET mutation and characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), and typical phenotypic features. MEN 2B cases previously reported in the literature have variable clinical course. Objectives: We aimed to discuss the characteristics of four MEN 2B cases with unusual presentations,clinical course and review the recent clinical data on MEN2B. Results: All patients had de novo M918T mutation and no family history. The mean age of patients was 38.2 years (27-56). Two patients had typical phenotypic features of MEN 2B; the other two patients had no striking phenotypic features. First detected MEN 2B component was MTC in two, intestinal ganglioneuromatosis in one, and PHEO in one of the cases. Bilateral PHEO was detected in all four cases. Conclusions: MEN 2B is a complex syndrome characterized by wide phenotypic variability and different clinical outcomes. To diagnose sporadic MEN 2B cases, genetic testing should be performed in all cases with suspicious clinical features. Although early diagnosis is the main factor that increases life expectancy, some MEN 2B patients with late diagnosis may exhibit a mild clinical course and better prognosis than expected, with effective treatment.

Intra-erythrocyte magnesium levels and their clinical implications in geriatric outpatients.

OBJECTIVES: Magnesium deficiency has been implicated as a factor in numerous chronic diseases and previous studies suggest a greater prevalence of occult magnesium deficiency among older adults. Serum is the choice for the assessment of most analyses used in clinical medicine, although serum magnesium concentrations have been shown to be poor predictors of intracellular magnesium concentration. The aim of this study was to compare intracellular and extracellular magnesium concentrations in geriatric outpatients. Moreover, we examined whether a significant correlation between magnesium parameters and clinical outcome existed. DESIGN: Cross-sectional study. SETTING: Geriatric medicine outpatient clinic of a university hospital. PARTICIPANTS: A total of 246 patients with a mean age of 71.9 ± 5.7 years were involved. MEASUREMENTS: Intra-erythrocyte magnesium levels were analyzed with atomic absorption spectrophotometry. RESULTS: Serum magnesium levels were within normal range in all patients, whereas intra-erythrocyte magnesium measurements were low in 57% of the patients. Increase in serum levels were together with just only a slightly increase in intra-erythrocyte measurements and the relationship was very weak. Intra-erythrocyte Mg levels were not significantly correlated with many laboratory or clinical parameters. CONCLUSION: Our results confirm that intra-erythrocyte Mg does not correlate with serum levels and clinical parameters in geriatric outpatients, but further studies are needed to define the correlation.