Linkage between obesity and a marker near the tumor necrosis factor-alpha locus in Pima Indians.

Because tumor necrosis factor-alpha (TNF-alpha) expression is increased in adipose tissue of both rodent models of obesity and obese humans, it has been considered as a candidate gene for obesity. Pima Indians were scored for genotypes at three polymorphic dinucleotide repeat loci (markers) near the gene TNF-alpha at 6p21.3. In a sib-pair linkage analysis, percent body fat, as measured by hydrostatic weighing, was linked (304 sib-pairs, P = 0.002) to the marker closest (10 kb) to TNF-alpha. The same marker was associated (P = 0.01) by analysis of variance with BMI. To search for possible DNA variants in TNF-alpha that contribute to obesity, single stranded conformational polymorphism analysis was performed from 20 obese and 20 lean subjects. Primer pairs were designed for the entire TNF-alpha protein coding region and part of the promoter. Only a single polymorphism located in the promoter region was detected. No association could be demonstrated between alleles at this polymorphism and percent body fat. We conclude that the linkage of TNF-alpha to obesity might be due to a sequence variant undetected in TNF-alpha or due to a variant in some other closely linked gene.     

Juvenile xanthogranuloma: A clinical, histopathologic and immunohistochemical study

Juvenile xanthogranuloma (JXC) is a benign histiocylic proliferation of uncertain histogenesis which usually resolves spontaneously. Histopathologically, classic lesions are characterized by diffuse proliferations of foamy histiocytes, many of which may be multinucleated (Toulon cells), admixed with lymphocytes and eosinophils. Histologic variants of JXG, perhaps representing evolving lesions, may lack these typical histopathological features, showing diffuse infiltrates of non-foamy mononuclear histiocytes without Toulon cells, posing problems in differentiation from other histiocylic or melanocylic proliferations. Immunohistochemically, JXG is characterized by variable expressions of several histiocytic markers as well as the absence of staining for SI00 protein. To assess better the spectrum of histopathological and immunohistochemical features of JXG, we studied nine cases of classic or histologic variant of JXG. The cases were evaluated by light microscopy and with an extensive battery of antibodies. All 9 cases, regardless of their light microscopic appearance, showed markedly positive staining with histiocytic markers including CD68, HAM56, cathepsin B and vimentin, but did not stain for S100 protein. Antibodies to factor XIIIa stained positively in 8 cases while staining for other markers was variable. Our results suggest that the histiocytes in JXG lesions have macrophagic differentiation, probably representing a reactive process to an unknown stimulus.     

Treatment of resistant distal intestinal obstruction syndrome with a modified antegrade continence enema procedure

We report a case of a patient with CF who had a long history of recurrent distal intestinal obstruction syndrome. She had been treated with conventional treatment including gastrografin, n-acetyl cysteine, Klean prep and Picolax. She underwent a modified antegrade continence enema procedure. She currently irrigates her conduit every 2-3 days. She has had no further symptoms of distal intestinal obstruction syndrome.     

Isovergence surfaces: the conjugacy of vertical eye movements in tertiary positions of gaze

Conjugate gaze is often defined as the equal angle rotation of the two eyes. For fixation at far distances, the optical axes are parallel and conjugacy is defined irrespective of the coordinate system. For nearby or finite fixation distances, the evaluation of conjugacy for many gaze postures depends on the coordinate system used to measure it. For example, if the eye is elevated or depressed and the eye is rotated about a vertical axis, the intersections of lines of sight with a tangent screen will describe either straight lines for arcs depending on whether the vertical axis is fixed with respect to the head or to the eye. Because of the horizontal separation of the two eyes, the binocular fixation of near targets at tertiary positions of gaze will require a vertical vergence component for head-referenced but not eye-referenced measurements. The vertical gaze alignment of three human subjects was measured as they viewed targets placed at secondary and tertiary eye positions at two different distances. Vertical vergence was either held open or closed-loop. The lines of sight were found lo intersect (i.e. vertical gaze was aligned) regardless of target position or viewing condition.     

Appearances of posterior osteophytes after sound anterior interbody fusion in the cervical spine: a high-definition computed myelographic study

Summary Whether posterior osteophytes in the cervical spine resorb after anterior interbody fusion is controversial. Previous studies have only used plain films. In order to study remodelling, a retrospective study of 53 patients using high-definition CT was performed. There was no evidence of remodelling or resorption of osteophytes and persistent osteophytes continued to deform the spinal cord for up to 12 years after fusion. The importance of this in relation to cervical spinal surgery is that every effort should be made to remove posterior osteophytes during anterior interbody fusion.     

Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians

Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia (TRMA) frequently combined with diabetes mellitus and deafness. Type 2 diabetes mellitus is heritable and a region on 1q21-q23 encompassing SLC19A2 was linked with the disease in Pima Indians and Caucasians. We therefore investigated this candidate gene in selected diabetic and nondiabetic Pimas and found no variants. We conclude that mutations in SLC19A2 do not contribute to type 2 diabetes in this population.     

Free-feeding and free-drinking patterns of male rats following treatment with opiate kappa agonists.

Three experiments investigated the effects of PD117302 and U50,488H on the patterns of food and water intake by male rats. Experiment 1 demonstrated early dose-related suppression of food and water intake after PD117302 (0, 1.25, 2.5, 5 mg/kg). The initial suppression of drinking was followed by a sustained increase 4-12 h after drug administration. Experiment 2 demonstrated that 2.5 mg/kg PD117302 failed to increase food intake whether given at the beginning of the night (high baseline food intake) or the beginning of the day (low baseline food intake). Experiment 3 showed that 0.5 mg/kg U50,488H significantly enhanced meal size but, at doses of 0.5, 1.0, and 2.0 mg/kg, had no effect on overall food intake. U50,488H also produced delayed, dose-related increases in water intake. The results suggest kappa receptors may have limited importance in modulating ad lib food intake and demonstrate the behavioural characteristics of increased drinking after excessive urine output.     

A developmental look at an auditory illusion: The precedence effect

Infants aged 2 and 6 months were tested with the precedence effect, an auditory phenomenon involving sound localization. Each infant was tested with two types of stimuli: sound from a single loudspeaker and precedence-effect sounds produced by the same sound put through two loudspeakers, with one output leading the other by 7 msec. Older infants localized precedence-effect stimuli as they did single-source stimuli, indicating that they perceived this phenomenon as expected. Two-month-olds turned their heads toward single-source sounds, but did not localize precedence-effect sounds, suggesting that that more difficult perceptual task had not been achieved at this age. In general, headturning toward sound proved far more difficult to elicit in younger infants. A click train was ineffective, but a tape-recorded human voice elicited above-chance low-level turning. The developmental changes in auditory behavior are discussed in terms of the rapid growth of the auditory cortex.