45,X/46,X dic (Y) mosaicism in a phenotypic male.

Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan''s syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.     

Inactivation of human synovial fluid phospholipase A2 by the marine natural product, manoalide

The marine natural product, manoalide (MLD), was investigated to determine if this drug inhibited purified human synovial fluid phospholipase A2 (HSF-PLA2). Utilizing classical Michaelis-Menten kinetics, apparent Km and Vmax values for HSF-PLA2 of 1.34 mM and 0.47 mumol [3H]palmitic acid released/min/mg protein were obtained using dipalmitoylphosphatidylcholine (DPPC) as the substrate, and 38.0 microM and 18.8 mumol [3H]arachidonic acid released/min/mg protein with Escherichia coli as a natural substrate. These kinetic parameters were utilized subsequently to evaluate the inhibitory effects of manoalide on HSF-PLA2. Inhibition of HSF-PLA2 by MLD was concentration and time dependent with IC50 values of 0.2 and 0.02 microM for DPPC and E. coli respectively. Dialysis studies and examination of DPPC or E. coli hydrolysis versus enzyme concentration indicate that MLD is an irreversible inhibitor of HSF-PLA2. Substrate specificity was also examined in the absence and presence of MLD using dipalmitoylphosphatidylethanolamine (DPPE) as a substrate. MLD inhibited the hydrolysis of DPPE (greater than 90% inhibition at 2 microM), and preliminary results indicate that DPPC was more readily hydrolyzed than DPPE under the substrate conditions of the assay. While the cellular source of secreted HSF-PLA2 is unknown, these studies indicate that MLD can inactivate secreted phospholipase A2 isolated from patients with inflammatory joint disease.     

Intestinal bacterial metabolism of flavonoids and its relation to some biological activities

Flavonoid glycosides were metabolized to phenolic acids via aglycones by human intestinal microflora producing α-rhamnosidase, exo-β-glucosidase, endo-β-glucosidase and/or β-glucuronidase. Rutin, hesperidin, naringin and poncirin were transformed to their aglycones by the bacteria producing α-rhamnosidase and β-glucosidase or endo-β-glucosidase, and baicalin, puerarin and daidzin were transformed to their aglycones by the bacteria producing β-glucuronidase, C-glycosidase and β-glycosidase, respectively. Anti-platelet activity and cytotoxicity of the metabolites of flavonoid glycosides by human intestinal bacteria were more effective than those of the parental compounds. 3,4-Dihydroxyphenylacetic acid and 4-hydroxyl-phenylacetic acid were more effective than rutin and quercetin on anti-platelet aggregation activity. 2,4,6-Trihydroxybenzaldehyde, quercetin and ponciretin were more effective than rutin and ponciretin on the cytotoxicity for tumor cell lines. We insist that these flavonoid glycosides should be natural prodrugs.     

Influence of Age and Sex on the Position of the Conus Medullaris and Tuffier's Line in Adults

Background: The purpose of this study was to analyze the position of the conus medullaris and Tuffier's line in the same patient population, to correlate this position with age and sex, and to determine an objective guide for the selection of a safe intervertebral space during spinal block.

Methods: Magnetic resonance imaging studies of the lumbar spine were reviewed in 690 consecutive patients. The study population consisted of patients older than 20 yr who had been referred for imaging to assess possible causes of low back pain. The position of the conus medullaris was defined as the most distal point of the cord that could be visualized on the sagittal sequence. A line perpendicular to the long axis of the cord was extended to the adjacent vertebra. In the lumbar plain films, the Tuffier's line was defined by drawing a horizontal line across the highest points of the iliac crests. Each vertebral body and intervertebral space was divided into four segments: upper, middle, and lower thirds of a vertebral body, and the intervertebral space. Each segment of a vertebral body or intervertebral space that the lines crossed was identified and recorded. The positions, stratified by decade of age, were compared using analysis of variance. The Tukey test was used for post hoc comparisons. Comparisons between sex were performed with the unpaired t test.

Results: The conus medullaris and Tuffier's line (median [range]) were positioned at L1-lower (T12-upper-L3-upper) and L4L5 (L3L4-L5S1), respectively. The distance between the conus medullaris and Tuffier's line (mean +/- SD [range]) was 12.6 +/- 1.9 [7-18] segments, which corresponded to the height of approximately three vertebral bodies and intervertebral spaces. In no case did Tuffier's line overlap with the conus medullaris. The distance in segments between the conus medullaris and Tuffier's line was shorter with increased age (P < 0.001). The position of the conus medullaris and Tuffier's line was lower in female patients than in male patients (P < 0.001) and higher in patients with sacralization than in those with lumbarization or without transitional vertebra (P < 0.001). The in-between distances were not significantly different regardless of sex or presence of transitional vertebra.     

Disc replacement using Pro-Disc C versus fusion: a prospective randomised and controlled radiographic and clinical study

Anterior cervical discectomy and fusion (ACDF) may be considered to be the gold standard for treatment of symptomatic degenerative disc disease within the cervical spine. However, fusion of the segment may result in progressive degeneration of the adjacent segments. Therefore, dynamic stabilization procedures have been introduced. Among these, artificial disc replacement by disc prosthesis seems to be promising. However, to be so, segmental motion must be preserved. This, again, is very difficult to judge and has not yet been proven. The aim of the current study was to first analyse the segmental motion following artificial disc replacement using a disc prosthesis. A second aim was to compare both segmental motion as well as clinical result to the current gold standard (ACDF). This is a prospective controlled study. Twenty-five patients with cervical disc herniation were enrolled and assigned to either study group (receiving a disc prosthesis) or control group (receiving ACDF, using a cage with bone graft and an anterior plate.) Radiostereometric analysis was used to quantify intervertebral motion immediately as well as 3, 6, 12 and 24 weeks postoperatively. Further, clinical results were judged using visual analogue scale and neuro-examination. Cervical spine segmental motion decreased over time in the presence of disc prosthesis or ACDF. However, the loss of segmental motion is significantly higher in the ACDF group, when looked at 3, 6, 12 and 24 weeks after surgery. We observed significant pain reduction in neck and arm postoperatively, without significant difference between both groups (P > 0.05). Cervical spine disc prosthesis preserves cervical spine segmental motion within the first 6 months after surgery. The clinical results are the same when compared to the early results following ACDF.     

Surgical treatment of pseudosyndactyly of children with epidermolysis bullosa: a case report.

Recessive dystrophic epidermolysis bullosa (RDEB) is an uncommon and severe disorder characterised by trauma-induced blisters, intractable skin ulcers, scarring, milia, and nail dystrophy. We report the good result of both surgical release of fingers allowing spontaneous epithelisation without skin grafting and post-operative meticulous skin care without splinting, followed-up for one year.