Klinefelter's syndrome (47,XXY) among men with systemic lupus erythematosus.

AIM: To determine the rate of Klinefelter's syndrome among men with systemic lupus erythematosus (SLE), and to determine whether the manifestations of SLE in these men are different from that seen in 46,XY men. METHODS: A total of 276 men with SLE underwent a real-time PCR procedure to screen for more than one X chromosome. Those with results consistent with two X chromosomes were further characterized by karyotype and FISH. Clinical manifestations of SLE were determined by interview, questionnaire and medical chart review. Each man with Klinefelter's and SLE was matched to four 46,XY men with SLE. Rates of SLE manifestations were compared with chi-square analyses. RESULTS: We found seven of the 286 men with SLE had Klinefelter's syndrome. Four of these seven were nonmosaic 47,XXY, while two were mosaic 46,XY/47,XXY and one was 46,XX/47,XXY. The men with 47,XXY did not have severe manifestations of SLE including no proliferative renal disease, neurological disease, thrombocytopenia, autoimmune haemolytic anaemia, discoid skin disease or anti-RNP/Sm. CONCLUSION: 47,XXY is found in excess among men with SLE. Men commonly have SLE that is more severe than that found among women, but the 47,XXY men had less severe SLE than other men.

Outcomes of patients referred for confirmation of brain death by 99mTc-exametazime scintigraphy.

OBJECTIVE: To review clinical outcomes in patients referred for confirmation of brain death by (99m)Tc-labelled exametazime scintigraphy and to assess any tangible benefit. DESIGN AND SETTING: A retrospective casenote review in the intensive care unit and nuclear medicine department of a tertiary-level acute care hospital. PATIENTS AND PARTICIPANTS: 66 consecutive patients, in whom a clinical diagnosis of brain death was not possible, undergoing (99m)Tc-labelled exametazime scintigraphy from February 1993 to March 2002, and for 56 of whom casenotes were available for review. MEASUREMENTS AND RESULTS: Brain death was confirmed in 77% on the basis of absent supratentorial and infratentorial uptake. Where brain death was not confirmed, a normal scan was seen in 30%, the remainder showing patchy reduced infratentorial and/or supratentorial uptake. All patients with the scintigraphic appearance of brain death subsequently died. Even when brain death could not be confirmed, 11 of 13 patients died soon afterwards. Two patients with normal brain scintigraphy regained consciousness and survived for an extended period. When brain death was not confirmed by scintigraphy, elapsed time to certification of death was longer (44.7 vs. 7 h) and organ donation was less common even when a subsequent clinical diagnosis was made. CONCLUSIONS: The results indicate that patient prognosis remains poor regardless of the findings on (99m)Tc-labelled exametazime scintigraphy, but that the scan result influences the elapsed time to withdrawal of therapy or organ donation, providing a significant cost benefit, and occasionally a long-term survivor is seen.