A faulty Bain circuit.
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Biomedical subjects
Publications and source records attributed to C Gooch.
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OBJECTIVES: To identify the disease-causing mutation and its molecular consequence for a clinically distinct type of myotonic myopathy. BACKGROUND: The authors encountered a unique myotonic disorder of early onset in a 37-year-old man and his 47-year-old sister. METHODS: After examining known loci of inherited myotonic disorders, the authors looked for mutations within the CLCN1 gene using single strand conformation polymorphism and direct sequencing. To investigate the disease mechanism, reverse transcriptase PCR analyses of total RNA were performed. RESULTS: In the proband and his affected sister, two novel mutations comprising a compound heterozygous state in the CLCN1 gene were identified: 1) a base (G) insertion in exon 7 generating a premature termination codon (fs289X) in the D5 domain, and 2) a C-to-T substitution in exon 23 resulting in a missense mutation (P932L). These mutations accompanied a clinical phenotype that is distinguishable from recessive myotonia congenita by progressive generalized muscle weakness, severe distal muscle atrophy, joint contractures, high serum creatine kinase levels, and conspicuous myopathic changes on muscle histopathology. Reverse transcriptase PCR analyses detected only the P932L mutant mRNA in skeletal muscle, suggesting that the fs289X mRNA is degraded rapidly. CONCLUSIONS: These data suggest that fs289X is a null mutation, rendering the patients with the compound heterozygous genotype of fs289X/P932L to exclusively express P932L homomeric channels that may have caused the "dystrophic" phenotype.
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OBJECTIVE: The objective of this study was to evaluate the efficacy and safety of tramadol in treating the pain of diabetic neuropathy. BACKGROUND: The pain of diabetic neuropathy is a major cause of morbidity among these patients and treatment, as with other small-fiber neuropathies, is often unsatisfactory. Tramadol is a centrally acting analgesic for use in treating moderate to moderately severe pain. METHODS: This multicenter, outpatient, randomized, double-blind, placebo-controlled, parallel-group study consisted of a washout/screening phase, during which all analgesics were discontinued, and a 42-day double-blind treatment phase. A total of 131 patients with painful diabetic neuropathy were treated with tramadol (n=65) or placebo (n=66) tramadol, which were administered as identical capsules in divided doses four times daily. The primary efficacy analysis compared the mean pain intensity scores in the tramadol and placebo groups obtained at day 42 of the study or at the time of discontinuation. Secondary efficacy assessments were the pain relief rating scores and a quality of life evaluation based on daily activities and sleep characteristics. RESULTS: Tramadol, at an average dosage of 210 mg/day, was significantly (p < 0.001) more effective than placebo for treating the pain of diabetic neuropathy. Patients in the tramadol group scored significantly better in physical (p=0.02) and social functioning (p=0.04) ratings than patients in the placebo group. No statistically significant treatment effects on sleep were identified. The most frequently occurring adverse events with tramadol were nausea, constipation, headache, and somnolence. CONCLUSIONS: The results of this placebo-controlled trial showed that tramadol was effective and safe in treating the pain of diabetic neuropathy.
A 22-year-old male awoke with right foot drop and numbness. Nerve conduction studies, sural nerve biopsy, and molecular genetic analysis were consistent with hereditary neuropathy with liability to pressure palsy (HNPP). Two months later he developed involuntary flexion/extension movements of the right toes with associated intermittent dystonic flexion of the right foot. Over the next 2 months these movements spread to the left foot and hand and myoclonus of the left trapezius and rhomboid appeared. This is the first case report of moving toes syndrome and segmental myoclonus in association with HNPP. The temporal and topographic patterns of spread of the abnormal movements suggest a central mechanism probably induced by peripheral pathology.
Long-stay patients who were discharged from Friern and Claybury hospitals during the 6-year period between September 1985 and August 1991 were followed up for at least 1 year and the details of all readmissions were recorded. Of the 615 hospital leavers, some 178 (29%) were readmitted at some time during the follow-up period. A proportional hazards regression analysis revealed a number of independent baseline factors which affect the risk of readmission at any time during the follow-up period. Younger patients were more at risk of readmission than were older patients and 'new' long-stay patients had a greater risk than baseline patients. Risk was also greater in patients who had a larger number of pre-discharge admissions, a higher abnormal behaviour score (PSE BSO) or a diagnosis of manic psychosis. An ordinal logistic regression analysis revealed that these same five factors tended to increase the actual number of readmission episodes. The proportion of post-discharge time spent in hospital among the readmitted patients was found to be greater for males, new long-stay patients and for patients with a higher number of positive social behaviour symptoms (SBSPOS score).
OBJECTIVE: The purpose of this study was to evaluate the policy of closing psychiatric hospitals and replacing their functions with community-based services. METHOD: All long-stay nondemented patients in two U.K. hospitals scheduled for closure were assessed with a series of schedules. All patients in one hospital and a proportion of those in the other hospital were reassessed 1 year after discharge to community facilities. RESULTS: Of the 737 patients discharged from the two hospitals, 24 died before follow-up, two by suicide. Follow-up was successful for 94.6% of the survivors. Only seven patients were lost to follow-up and are presumed to have become homeless. Only two patients went to prison, one briefly. There was very little change in patients' psychiatric symptoms or social behavior problems. The community homes provided a much less restrictive environment than the hospital wards. Discharged patients were very appreciative of their increased freedom, and over 80% wished to stay in their community homes. There was an increase in the proportion of patients with incontinence and immobility. The patients' social lives were enriched by an increase in friends, and some made contact with neighbors and others in the community. However, there was a decrease in contact with relatives following discharge. CONCLUSIONS: When the capital and revenue resources of a psychiatric hospital are reinvested in community services, based on staffed houses, there are few problems with crime or homelessness. With such well-resourced services, the benefits greatly outweigh the disadvantages for both old and new long-stay patients.
OBJECTIVE: The study compared the quality of life of long-stay psychiatric patients after they had been discharged to community residences for one year with that of long-stay patients who remained hospitalized. METHODS: Long-stay patients (that is, those with stays of at least one year) who were discharged from two psychiatric hospitals in London were closely matched with patients likely to stay in the hospital for another year. Baseline (in-hospital) and one-year follow-up assessments were conducted using six instruments to measure factors related to quality of life such as problems in social functioning and size of the social network. RESULTS: A total of 494 discharged patients were compared with 279 patients who remained in the hospital. The death rate did not differ between the two groups. Only six discharged patients became vagrants, and only two were imprisoned, one briefly. Discharged patients were living under much less restrictive conditions, they preferred their life in the community, and the number of their friends increased, as did the number of acquaintances in the community such as neighbors. No adverse effects of discharge on mental state or social behavior were noted. CONCLUSIONS: The results indicate that community care is a beneficial alternative to long-term care in psychiatric hospitals for the majority of patients, provided it is well planned and adequate resources are available.
We noticed considerable variation in anxiety among staff reporting blood exposure incidents and therefore undertook a study to investigate this. We studied 100 consecutive staff reporting blood or other body fluid exposures to the Occupational Health Unit. The nurse seeing the staff member administered a questionnaire about worries related to the incident, knowledge of HIV and hepatitis B transmission risks, perception of risk from the particular incident and predicted reaction of others that would be told. Level of anxiety was recorded on a visual analogue scale. Staff were then given information and counselling as usual, and asked to re-attend after a week, when the questionnaire was repeated. We found that the initial level of anxiety was not related to knowledge of HIV or hepatitis B transmission risks, but was related to perception of risk from the incident and to predicted reaction of others that would be told. The eight staff involved in exposures to known HIV-infected blood were not more anxious than the remainder. There was a reduction in anxiety between visits, which was significantly greater in women, in those who had a non-parental exposure and in those where the source patient was known. Knowledge of transmission risks also improved significantly between visits. This study underlines the importance of adequate counselling of staff who have suffered blood exposures.
This paper reports the evaluation of a pilot health promotion initiative among hospital staff. Health screening and advice were available during one week. Staff who attended completed a questionnaire about diet, alcohol, exercise, smoking, stress and health perceptions. They were randomly assigned to receive advice and set targets for changing their lifestyle or simply to be given their results. A sample of non-attending staff was sent the same questionnaire. Attenders were invited to return after six months. Of the 297 staff who attended the first session, 83 returned after six months. Of the non-attending staff, 192 returned a questionnaire. Attenders were older, more concerned and more knowledgeable about their health and under-represented by clinical and manual staff. Weight, exercise frequency and perceptions of health were related to the likelihood of re-attending. Those in the 'advice' group were more likely to lose weight and increase their exercise. It is difficult to achieve wide participation in health promotion activities but a simple intervention can have useful effects.
A questionnaire was sent to all 158 staff of the operating department of a London teaching hospital to confirm their hepatitis B immunization status and establish the number of incidents involving exposure to blood during the preceding 4 weeks. Of these personnel, 104 (66 per cent) were known to be immune to hepatitis B either through immunization (97) or previous infection (seven). A further 23 (15 per cent) had completed a course of immunization but their seroconversion had not been checked. There were 26 sharps injuries sustained by 14 (12 per cent) of 119 staff and 240 other exposures to blood. Four of the sharps injuries had been reported. Staff known to be immune were more likely than those with unknown or negative immunity to report incidents (20 versus 0 per cent (95 per cent confidence interval of difference 2-38 per cent)). Doctors sustained more non-sharps exposures to blood than others (47 versus 23 per cent (95 per cent confidence interval of difference 7-40 per cent)). An important minority of operating department staff remains unimmunized against hepatitis B, although exposure to blood is common. Incidents are rarely reported and staff with unknown or negative immunity seem less likely to report than those known to be immune.
The development of the hospital and community versions of the Patient Attitude Questionnaire is described. The instrument rates the attitudes of psychiatric patients towards their treatment settings and staff, and is framed specifically to assess attitudinal change during the transfer of patients from hospital. For the items rated using the kappa coefficient of agreement, the mean test-retest reliability value was 0.51, and the average inter-rater value was 0.82. This study shows that long-term psychiatric patients are able to give clear and consistent views about their living arrangements--views that should be sought and respected by staff.
The first prospective, controlled study of a large, long-stay, in-patient population as their hospital services were reprovided in the community is reported. Two-hundred-and-seventy-eight patients were matched individually with similar patients who remained in hospital. Clinical and social outcomes over a one-year follow-up are presented for the first three years of the reprovision process. Compared with matches, the leavers at follow-up had more diverse social networks that contained a higher proportion of contacts named as friends. The care facilities in the community allowed more opportunities for patient autonomy than the hospitals across all aspects of the environments measured. At follow-up, more leavers than matches wanted to remain in their current placement, while fewer leavers than matches said there was nothing they liked about their current placement. More leavers than matches found their medication helpful.
OBJECTIVE: To identify patients who could not be resettled in the community as part of the closure plans of two psychiatric hospitals and to determine their numbers and risk factors for failure. DESIGN AND SETTING: Prospective study of the closure of Friern and Claybury psychiatric hospitals. PATIENTS: The first third (369) of long stay psychiatric patients to be resettled. OUTCOME MEASURES: Reasons for patients being readmitted to hospital and not leaving the patients' service needs. RESULTS: 22--6% of both hospitals' long stay patients--were not successfully resettled in the community. Eighteen continuing care places per 100,000 of catchment area population seem to be required for this group. Patients whose placements were unsuccessful were usually readmitted because of a deterioration of their mental state and aggressive behaviour, both of which persisted and necessitated their continuing stay in hospital, often in a locked ward. Risk factors associated with failure were a high level of psychosis; a diagnosis of paranoid psychosis; incontinence; and being male. But having a social network, especially a large one, seemed to aid successful placement in the community. CONCLUSION: Rehabilitation efforts should be focused on the characteristics of these patients that put them at risk of failing to succeed in community placements.
OBJECTIVE: To identify risk factors which increase the likelihood of readmission for long stay psychiatric patients after discharge from hospital. DESIGN: Follow up for five years of all long stay patients discharged from two large psychiatric hospitals to compare patients readmitted and not readmitted. SETTING: Friern and Claybury Hospitals in north London and their surrounding catchment areas. Most patients were discharged to staffed or unstaffed group homes. SUBJECTS: 357 psychiatric patients who had been in hospital for over one year, of whom 118 were "new" long stay and 239 "old" long stay patients. MAIN OUTCOME MEASURES: Readmission to hospital and length of subsequent stay. RESULTS: Of all discharged patients 97 (27%) were readmitted at some time during the follow up period, 57 (16%) in the first year after discharge, and 31 (9%) then remained in hospital for over a year. The best explanatory factors for readmission were: male sex, younger age group, high number of previous admissions, higher levels of symptomatic and social behavioural disturbance, a diagnosis of manic-depressive psychosis, and living in a non-staffed group home. CONCLUSIONS: During the closure of psychiatric hospitals, facilities need to be preserved for acute relapses among long term, and especially younger, discharged patients. Staffed group homes may help prevent relapse and reduce the number of admission beds required.
OBJECTIVE: To review management of incidents involving exposure to blood reported to an occupational health unit. DESIGN: Analysis of all reported incidents from January 1989 to June 1991. SETTING: London teaching hospital. SUBJECTS: 447 health care workers and students. MAIN OUTCOME MEASURES: Immunisation against hepatitis B virus before exposure, proportion of known source patients tested for hepatitis B surface antigen and HIV antibodies, and reasons for not testing known source patients. RESULTS: 447 incidents were reported: 337 sharps injuries and 110 other exposures. 310 staff reporting incidents (205 (82%) nurses) were already immune to hepatitis B virus, nearly always because of immunisation. 345 source patients were identified, 77 of whom had already been tested for hepatitis B surface antigen (28 positive results) and 58 for HIV antibodies (18 positive results). Of those not previously tested, 145 of 266 were subsequently tested for hepatitis B surface antigen (two positive) and 149 of 287 for HIV antibodies (none positive). The main reasons for not testing source patients were that the incident was not considered a risk, that the patient had gone home, and that the clinical team were unwilling to ask the patient. Specific hepatitis B immunoglobulin was given to 18 staff who were not immune and was avoided in 11 cases by a negative result for the patient. Prophylactic zidovudine was discussed but not given to any staff member. CONCLUSIONS: Management of exposure to blood is improved by widespread immunisation against hepatitis B virus and by knowledge of source patients' hepatitis B virus and HIV status.
All doctors in a London Teaching Hospital were sent a self-administered, anonymous questionnaire, to study past episodes of emotional distress. We inquired about frequency of past and current emotional distress, sources of distress, effects on work and home life, type of help sought and perceived outcome of that help. Of 320 doctors, 210 (66%) responded. One hundred and forty-one (68%) reported previous episodes of moderate or severe emotional distress. Logistic regression revealed that distress was significantly more common in younger doctors and in women. Many respondents reported work problems as causing their distress and work was frequently adversely affected by episodes of distress. Professional help was rarely sought; non-professional help was from family and friends. Current emotional distress was related to a history of past distress, especially among the most junior doctors. We conclude that past emotional distress is reported by most doctors, with work pressures an important contributing factor. Doctors do not appear to use available sources of professional help. Our findings confirm that doctors have difficulty disclosing psychological problems. Specific programmes aimed at prevention and management of distress in doctors need to be initiated and evaluated.
Hepatitis B immunisation has been offered to staff of Hampstead Health Authority since 1982 and is now offered to all staff with clinical contact. Three doses of 20 micrograms of vaccine are given at zero, one, and six months and the antibody response is measured three months later. Results were analysed to seek for associations with the antibody response. At the time of analysis, 2739 people had started vaccination and 1067 had completed the course and had a measurement of antibody response. Vaccine injections were initially into the buttock and later into the arm; measurement of antibody levels was initially by radioimmunoassay (RIA) and later by enzyme immunoassay (EIA). A positive antibody response was defined as a positive/negative ratio of greater than 10 for RIA or a level of greater than 10 mIU/ml for EIA. Associations between antibody response and other variables were tested by chi 2 and a multiple logistic regression analysis was undertaken to examine the effects of variables in combination. The overall antibody response rate was 95%. Men and women did not respond differently but there were significantly more positive responses with the EIA testing method and a tendency for more positive responses with arm injections. The responders were significantly younger than the non-responders and had significantly lower values of body mass index (wt/ht2).(ABSTRACT TRUNCATED AT 250 WORDS)