Localization of a gene for otosclerosis to chromosome 15q25-q26

Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi- generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease- causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene.      

Anti-heparan sulphate reactivity in sera from patients with systemic lupus erythematosus with renal or non-renal manifestations.

Previously, we have shown that anti-DNA can bind to heparan sulphate (HS), a constituent of the glomerular basement membrane (GBM). We hypothesized that binding of anti-DNA to HS in the GBM plays a role in the onset of systemic lupus erythematosus (SLE) nephritis. To test this hypothesis we measured the anti-HS reactivity in cross-sectional and longitudinal studies of SLE patients with or without nephritis. In the transverse serum study single serum samples from 26 SLE patients were studied. We found no correlation between anti-HS reactivity and previously development of nephritis (anti-HS positive: seven out of 16 with history of nephritis, two out of 10 without nephritis). However, six of the seven anti-HS positive sera in the nephritis group were obtained within 1 month of the onset of nephritis, suggesting a temporal relationship between anti-HS reactivity and onset of nephritis. In the longitudinal serum study between six and 16 serum samples were studied from each of 10 SLE-patients. In five out of five episodes of nephritis we found anti-HS reactivity before the onset or exacerbation of the nephritis. In four non-renal manifestations anti-HS reactivity was found in only one episode; in none of the three patients who remained clinically stable did serum samples show anti-HS reactivity. Anti-HS reactivity was only found in sera positive for anti-DNA by Farr assay but the anti-HS titre was not a mere reflection of the reactivity measured in the Farr assay. This indicates that only a subpopulation of anti-DNA can bind to HS. We found a high correlation (r = 0.99) between anti-HS reactivities in plasma and serum and we conclude that anti-HS reactivity in serum samples from SLE patients is not due to in vitro complex formation during clotting. Although further prospective analysis is necessary, our data suggest that measurement of anti-HS reactivity in SLE patients might identify patients at risk for the development of nephritis.     

Analysis of neomycins A, B and C by high-performance liquid chromatography with post-column reaction detection

The analysis of the antibiotics neomycins A, B and C was investigated. The separation of the components was studied using reversed-phase and reversed-phase ion-pair chromatography. The optimum separation was obtained utilizing a Lichrosorb RP-2 column with a mobile phase consisting of 75 mg/l sodium dodecyl sulphate, 0.5M Na2SO4 and 0.015 M sodium acetate buffer at pH 7.0. Using this mobile phase, baseline separation was obtained for all three compounds in approximately 20 min. Detection was via post-column derivatization of the analytes with ortho-phthalaldehyde in the presence of mercaptoethanol to form fluorescent iso-indole products. This system is applied to the analysis of a number of formulated products containing neomycin.     

Is Patient Satisfaction After Total Knee Arthroplasty Predictable Using Patient Characteristics and Preoperative Patient-Reported Outcomes?

BackgroundDissatisfaction after total knee arthroplasty (TKA) remains a difficult problem. Patient characteristics and preoperative patient-reported outcomes (PROs) are potential predictors of satisfaction one year after TKA. Being able to predict the outcome preoperatively might reduce the number of less satisfied patients.MethodsA retrospective cohort study on prospectively collected data of 1239 primary TKA patients (ASA I-II, BMI <35) was performed. Primary outcome was degree of patient satisfaction one year after TKA (Numeric Rating Scale (NRS) 0-10). Secondary outcomes were degree of patient satisfaction six months and two years after TKA and being dissatisfied (NRS 0-6) or satisfied (NRS 7-10) at all three time points. Multivariate linear and binary logistic regression analyses were executed with patient characteristics and preoperative PROs as potential predictors.ResultsOne year after TKA, median NRS satisfaction score was 9.0 (8.0-10.0) and 1117 (90.2%) patients were satisfied. BMI, degree of medial cartilage damage, previous knee surgery, Knee injury and Osteoarthritis Outcome Score-Physical Function Short Form score, EQ VAS score, and anxiety were identified as predictors of the degree of patient satisfaction (P = .000, R² = 0.027). Models on secondary outcomes reported R² of 1.7%-7.1% (P < .05). All models showed bad agreement between observed and predicted values for lower NRS satisfaction scores and being dissatisfied.ConclusionThe degree of patient satisfaction and the chance of being dissatisfied or satisfied six months, one, and two years after TKA are predictable by patient characteristics and preoperative PROs but not at a reliability level that is clinically useful.