Plasma testosterone and pathological gambling.

The authors studied plasma testosterone levels and psychological characteristics of male pathological gamblers. Twenty-nine male pathological gamblers and a group of healthy volunteers matched for age and gender were compared on levels of plasma testosterone and scores on the Eysenck Personality Questionnaire (EPQ) and the Psychopathic Deviance scale of the Minnesota Multiphasic Personality Inventory (MMPI). Plasma testosterone levels were similar in the pathological gambling and comparison group (476.06 ng/100 ml vs. 560.71 ng/100 ml). Patients had higher scores on the Neuroticism subscales of the EPQ (13.83 vs. 10.83) and the Psychopathic Deviance scale of the MMPI (27.03 vs. 21.03), but not on any of the other subscales of the EPQ. Testosterone levels did not correlate with the psychological ratings. Testosterone levels are probably not related to impulsivity in pathological gambling.

Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.

More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late mutation are scarce, and usually come from isolated case reports or tables. The Tyr77 mutation is not as well characterized as the Met30 mutation, especially with respect to such aspects as prognosis or possible treatment by liver transplantation. We therefore present the clinical and pathological features of an extensive family with the Tyr77 TTR mutation, comprising 12 affected individuals over four generations. Six living individuals were followed over a 10-year period. Retrospective data were obtained with regard to the deceased family members. We found that an initial and sometimes prolonged carpal tunnel syndrome, beginning between the 6th and 7th decades, characterizes the Tyr77 mutation. In most cases this evolved to generalized peripheral nerve involvement, restrictive cardiomyopathy, and intestinal malabsortion. Although survival is usually high, there are progressive cases that should be candidates for liver transplant, before severe impairment has developed.