4p16.3 haplotype modifying age at onset of Huntington disease

Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset.     

Ulnar nerve injuries of the hand producing intrinsic muscle denervation on magnetic resonance imaging

Muscle and nerve injuries in the hand may be difficult to detect and diagnose clinically. Two cases are reported in which magnetic resonance imaging showed ulnar nerve injury and intrinsic hand muscle denervation. The clinical, anatomical and radiological features of injury to the deep motor branch of the ulnar nerve and associated muscle denervation are discussed and illustrated.     

Effects of hormone replacement therapy and social stress on body fat distribution in surgically postmenopausal monkeys.

OBJECTIVE: To investigate the effects of hormone replacement therapy (HRT) and social stress on body fat distribution in an animal model of women's health, the female cynomolgus macaque (Macaca fascicularis). DESIGN/SUBJECTS: Adult female cynomolgus monkeys were ovariectomized and fed an atherogenic diet for two years while housed in social groups of 3-8 monkeys each. Animals were then fed a lipid-lowering diet and randomized into four experimental groups: a baseline group which was necropsied immediately and not included in the study reported here, 26 females fed diet only (CONTROL), 22 females fed diet plus conjugated equine estrogens (CEE), and 21 females fed the diet plus CEE and medroxyprogesterone acetate (CEE + MPA). Treatment lasted 30 months. MEASUREMENTS: During the last nine months of treatment, social status was determined three times at three month intervals. At the end of the study, whole body obesity and fat distribution patterns were determined using anthropometry and computerized tomography (CT). RESULTS: The addition of a progestin to the estrogen replacement regimen administered to surgically postmenopausal monkeys, increased all anthropometric and CT measures of obesity except intra-abdominal fat. HRT had no effect on patterns of fat distribution. Socially-dominant, ovariectomized females were more obese than subordinates using both anthropometric and CT measurements of whole body obesity. Dominant females were more likely to have their fat deposited centrally as measured anthropometrically. However, CT measures revealed a trend for dominants to preferentially deposit fat in the subcutaneous abdominal depot in contrast to subordinates who deposited fat in the intra-abdominal depot. CONCLUSIONS: The results of this study suggest that progestins, when administered in combination with estrogens, may increase fat deposition, particularly in subcutaneous depots. In addition, the social stress experienced by subordinate monkeys, may have mild effects on fat deposition patterns, even after removal of ovarian function as a factor. These observations may have implications for treatment recommendations in postmenopausal women. Lastly, CT may measure different characteristics of fat distribution than skinfolds and circumferences.     

Pulmonary histiocytosis X: comparison of radiographic and CT findings

The authors retrospectively evaluated radiographs, computed tomographic (CT) scans, and results of pulmonary function tests (when available) for 17 patients with biopsy-proved pulmonary histiocytosis X. In 11 patients, high-resolution CT was used. In 12 patients, CT demonstrated cystic air spaces, usually less than 10 mm in diameter. In three of these 12, cysts were the only abnormality, but in six others, nodules (usually less than 5 mm in diameter) were also present. Two patients had only nodules and one, only emphysema. CT showed that many lesions that appeared reticular on plain radiographs were actually cysts. CT showed no central or peripheral concentration of lesions, but it did reveal that many small nodules were distributed in the centers of secondary lobules around small airways. CT findings correlated better with the diffusing capacity (rho = -0.71) than did the plain radiographic findings (rho = -0.57). Thus, CT was better than radiography at showing the morphology and distribution of lung abnormalities.     

Variables influencing cardiovascular function

Two studies are reviewed, one regarding the effects of music therapy on psychophysiologic stress in coronary care unit patients and one regarding the effects of age and gender on cardiovascular autonomic reactivity in healthy adults. Music therapy is determined to be safe for coronary care unit patients and effective in modulating the psychophysiologic manifestations of stress. The second study suggests that age--gender interactions may influence autonomic cardiovascular responsiveness. It is suggested that older adults be taught methods to reduce straining, so that rapid transient changes in blood pressure are avoided.     

Gastric ulcer disease in infants: US findings

Among 600 infants examined with ultrasound for vomiting, seven (mean age, 3 months) had distinctive features that can be considered diagnostic of gastric ulcer. The findings are thickening of the mucosa (greater than 4 mm) in the antropyloric region, elongation of the antropyloric canal, persistent spasm, and delayed gastric emptying. Two of the infants had slight thickening of the pyloric muscle. Gastrointestinal series or endoscopy demonstrated thickened gastric mucosa and a deformed gastric antrum in all infants, as well as actual ulceration in five.