Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature

Clinical assessments made with measuring devices are generally considered “objective” and “accurate” and are, therefore, more discriminating than subjective assessments. We show that the choice of measuring devices or non-standardized landmarks to be used with the measuring devices affect the “accuracy” of the “objective” findings. © 1994 Wiley-Liss, Inc.     

Sympathectomy for reflex sympathetic dystrophy: Factors affecting outcome

This study includes our 12-year experience with chemical sympathetic blocks and surgical sympathectomies for causalgic pain of reflex sympathetic dystrophy (RSD) with emphasis on factors affecting clinical outcome. Medical records of patients undergoing sympathectomies for causalgic pain were analyzed. The patients were classified according to Drucker et al. as stage I, II, or III. Results of chemical and surgical sympathectomies were analyzed using both univariate and multivariate methods. Twenty-one patients had lumbar and seven had cervicodorsal sympathectomies for RSD. The mean duration between initial injury and chemical sympathetic block was 10 months with a mean of 11.4 months to surgical sympathectomy. Ten patients (36%) had overt extremity trauma as the precipitating event. Ten patients (36%) had a lumbar laminectomy, three of whom developed the syndrome bilaterally. There was no operative mortality; however, 25% had transient postoperative sympathetic neuralgia. The early and late (>6 months) satisfactory outcomes after surgical sympathectomy were 82% and 71%, respectively. Patients with stage II presentations were significantly more likely to have satisfactory early (92%) and late (79%) outcomes than stage III patients, 0% and 0% ( p =0.019). Patients with an excellent response to chemical sympathetic block were more likely to have satisfactory early and late surgical outcomes. The time between injury and chemical block and surgical sympathectomy was significantly shorter in patients who had satisfactory early and late surgical outcomes ( p <0.0001). Multivariate analyses demonstrated that the most important independent factor in determining early and late satisfactory outcomes of sympathectomy was the time between injury and sympathectomy ( p =0.001). Surgical sympathectomy should be confined to patients with stage II disease who have had an excellent response to chemical sympathetic block and when relief from repeated sympathetic block becomes less effective and the response is dramatic but of shorter duration.Presented at the Joint Annual Meeting of the SVS/ISCVS, Chicago, Ill., June 8–10, 1992.     

DNA mismatch repair and TP53 defects are early events in uterine carcinosarcoma tumorigenesis.

Growing molecular evidence shows that uterine carcinosarcomas are clonal tumors. The carcinoma component has a dominant effect in the aggressive clinical behavior of these tumors. Defective DNA mismatch repair affects up to 30% of endometrial adenocarcinomas. The frequency and importance of defective DNA mismatch repair in the histiogenesis of uterine carcinosarcomas remains controversial. We studied the pattern and frequency of defective DNA mismatch repair and TP53 alterations in the epithelial and mesenchymal components of 28 uterine carcinosarcomas. We found evidence of defective DNA mismatch repair in six cases (21%) with a concordance rate of 83% for carcinoma-sarcoma pairs (kappa=0.887, P<0.001). Lack of immunostaining for the MLH1 protein was demonstrated in both components in two of these tumors. TP53 defects were evaluated by 17p deletion analysis and p53 immunostaining. Nineteen carcinoma (68%) and 18 sarcoma (64%) components had evidence of either TP53 allelic loss or p53 overexpression. These defects proved clonal in 76% of cases (kappa=0.602, P=0.003). Our results indicate that defective DNA mismatch repair and TP53 defects are common early events in carcinosarcoma tumorigenesis. The high rate of concordance for these molecular defects between the carcinoma and sarcoma components adds to existing molecular evidence that carcinosarcomas are clonal malignancies.     

Antibody to hepatitis C virus in selected groups of a Canadian urban population.

In an anonymous survey, 433 sera from Canadian individuals of selected categories were tested for the presence of antibody to hepatitis C virus (HCV) using a recombinant antigen-based immunoassay. About 50% of intravenous drug abusers (IVDA), 10% of transfusion recipients and an overall average of 7.9% of male homosexuals were reactive for antibody to HCV. Individuals with jaundice and negative hepatitis B virus (HBV) serology were not reactive for antibody to HCV compared with 26.7% of those with positive HBV serology. Similarly 58% of male Federal prisoners with positive HBV serology were also HCV-antibody reactive compared with 15% of those with negative HBV serology. A prevalence of 1.2% was recorded for individuals not in any of the above groups. Of 433 sera, 92 were reactive and the discrimination in absorbance values between reactive and not reactive samples was good except for 13 sera, eight of which gave values considerably higher than the average negative value and five which were just above the positive threshold.     

Benzodiazepine use in general practice--is it a problem?

AIMS: The aim of this study was to describe benzodiazepine use in a general practice. METHODS: A prevalence study in an Auckland general practice was undertaken to describe the benzodiazepines prescribed, patterns of use and compliance. An associated case control study compared benzodiazepine users and nonusers. RESULTS: The age standardised prevalence rate of benzodiazepine use in this Auckland general practice was 3.4% for patients over 20 years of age. The benzodiazepine users described were predominantly elderly (70% over 60 years of age) and female (62.5%). They had significantly more medical and psychiatric complaints than matched controls. Triazolam and diazepam accounted for 60.9% of the benzodiazepines prescribed. Over one-third of the patients using benzodiazepines were concurrently prescribed other psychotropic medications, primarily tricyclic antidepressants. CONCLUSION: This rate suggests an overall decline in benzodiazepine use since previous studies. Benzodiazepines continue to be prescribed predominantly in the elderly, a group at considerable risk from side effects. Doctors should continue to inform their patients about the side effects of benzodiazepines, the risks of dependence and difficulties of withdrawal.     

Time to detection of circulating microbubbles as a risk factor for symptoms of altitude decompression sickness.

This study investigated the association between time at onset of circulating microbubbles (CMB) and symptoms of altitude decompression sickness (DCS), using Cox proportional hazard regression models. The study population consisted of 125 individuals who participated in direct ascent, simulated extravehicular activities profiles. Using individual CMB status as a time-dependent variable, we found that the hazard for symptoms increased significantly (at the end of 180 min at altitude) in the presence of CMB (Hazard Ratio = 29.59; 95% confidence interval [95% CI] = 7.66-114.27), compared to no CMB. Further examination was conducted on the subgroup of individuals who developed microbubbles during the test (n = 49), by using Cox regression. Individuals with late onset of CMB (> 60 min at altitude) showed a significantly reduced risk of symptoms (hazard ratio = 0.92; 95% CI = 0.89-0.95), compared to those with early onset (< or = 60 min), while controlling for other risk factors. We conclude that time to detection of circulating microbubbles is an independent determinant of symptoms of DCS.     

Patient responses to benzodiazepine medication: a typology of adaptive repertoires developed by long-term users

Since the late 1970s there has been a marked decline in the prescribing of the benzodiazepines. Yet long-term use of this drug persists despite widespread media condemnation and growing professional concern. The study seeks to illuminate this phenomenon by deploying qualitative methods to investigate the meaning that such medication has for the users themselves and their styles of management. In-depth interviews were conducted with fifteen community-based users and seven members of a self-help group. From this material a typology was developed that reflected the relationship users had formed with their medication. The key dimensions in this typology were the degree of dependency on the drug, the perceived level of risk associated with it, and underlying attitude. The relationships to the drug reflected in the typology were suggestive of a pattern of self-regulation and active management by users, rather than dominance and control by practitioners. Furthermore, the investigation indicated that characteristics of the medication regime itself—such as type of drug and dose exert an influence on the attribution of meaning and the place of the drug in users' lives. While a characterisation of patient subculture has real potential for application in clinical practice, there are also implications within medical sociology for theories of medicalisation and social control.