Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.


Keywords: Kufor-Rakeb syndrome; autozygosity mapping; Parkinson's disease; chromosome 1p36     

The cost of medicines in the United Kingdom. A survey of general practitioners' opinions and knowledge

Prescribing costs in general practice continue to grow. Their importance is underlined by the amount of information concerned with costs that general practitioners (GPs) receive, and by the existence of target budgets. In 1986 and 1991, surveys showed that GPs agreed that cost should be borne in mind when choosing medicines, but that their knowledge of drug prices was often inaccurate. This study assessed the current knowledge and attitudes of GPs in the UK in respect of prescribing costs, and examined the influence of various developments in general practice since 1986 on the accuracy of drug price estimation. 1000 randomly selected GP principals (500 in Scotland and 125 in each of 4 English health regions) were sent a postal questionnaire. The GPs' level of agreement with 5 statements concerned with prescribing costs, and the accuracy of their estimates of the basic price of 31 drugs, were analysed. Most GPs (71%) agreed that prescribing costs should be taken into account when deciding on the best treatment for patients. Fundholders were more likely than non-fundholders: (i) to agree that prescribing costs could be reduced without affecting patient care; (ii) to agree that providing more information on costs would lower the cost of prescribing; and (iii) to comment that cost guidelines had changed their prescribing habits. Fundholders were less likely than non-fundholders to reject the principle of fixed limits on prescribing costs. Overall, one-third of the price estimates given were accurate (within 25% of the actual cost). For the most expensive drugs in the survey [those priced over 10 pounds sterling (Pound) per pack], half of the price estimates were accurate. There were significant differences between non-fundholders' and fundholders' estimates of the price of less expensive drugs (those priced at less than 10 pounds per pack). Use of a formulary or computer-displayed drug price information did not affect the accuracy of price estimates. It may be that GPs who were more knowledgeable and concerned about costs were more likely to become fundholders. It is also possible that the expansion of fundholding, or other mechanisms that give GPs responsibility for resource allocation, might improve accurate cost awareness in prescribing. Clinical and economic review of repeat prescribing is recommended.     

In search of optimal productivity and hospital size: a case study

This study examines the relationship between optimal employee productivity and hospital size based on a sample from the state of Texas during 1982-91. Full-time equivalents (FTEs) per adjusted occupied bed is employed to represent productivity. The number of beds, total employees, and eight standard categories are used to measure hospital size. The impact of the diagnosis-related group implementation on productivity is also tested. Major findings suggest that productivity is found to be the highest for hospitals with 272 beds or 945 employees or in the category IV or V. The implementation of the DRG has not increased employee productivity.     

Distribution along a Stages-of-Behavioral-Change Continuum for Condom and Contraceptive Use among Women Accessed in Different Settings

The numbers of women of childbearing age in the US with HIV and AIDS from heterosexual transmission continues to rise. Behavioral interventions remain the best means of preventing transmission of HIV. Program planners often implement interventions to promote behavioral change in a wide range of settings such as family planning or sexually transmitted disease clinics, drug treatment facilities, or medical facilities that serve high risk and HIV positive women. Women recruited in different types of settings, however, may differ with respect to their experience with, attitudes toward, and willingness to use condoms and contraception. Such differences should be considered when tailoring interventions to the populations being served. We examined the readiness to use condoms and contraception among 3784 women in four cities recruited in three different types of settings: community, facilities not targeted to HIV positive women and medical facilities for HIV positive populations. Readiness to use condoms or contraception was measured using The Transtheoretical Model of Change. Women reported being in different stages along the continuum of condom and contraceptive use in the three settings. A greater proportion of women in the HIV-facility, 45%, had used condoms consistently for the previous 6 months compared to women in the other two settings (12% and 11%). Similarly, variation across settings was seen for contemplation of consistent contraceptive use to prevent unintended pregnancies. The variability in the distribution of condom and contraceptive use across settings underscores the importance of assessing the readiness for the behavior change and designing interventions that meet the specific needs of the populations being served.     

Pre-anesthetic assessment clinics in Ontario

PURPOSE: To survey the provision of pre-anesthetic assessment clinics in hospitals in Ontario during the summer of 1997. METHODS: Mail survey questionnaire of all 300 hospitals in Ontario. RESULTS: Replies were received from 260 hospitals (86.7%) of which 131 provide anesthesia. Of these, 86% are community and 14% teaching hospitals. Regular clinics are held in 63% of these hospitals, most commonly daily. As to location, 73% are held in the outpatient department. Written guidelines detailing which patients should be referred are issued by 77% of departments. The attending surgeon is the most common source of referral (64%). Referred patients are most commonly seen by a nurse (52%) who decides on onward referral to an anesthesiologist. Services generating the most referrals are general surgery (83%), orthopedics (64%) and obstetrics/gynecology (49%). In 47% of hospitals 10-50 patients are seen per month and they travel most commonly up to 100 km. The average "no show" rate is 6.2%. Only 36% of departments assess patients the same day as seen by the surgeon. On attending the clinic, 51% can see an internist the same day in contrast to 30% being able to see a cardiologist. Pre-admission testing is available to 97% on the same day. Direct funding is available for the nurse (87%), physician (1%) and secretarial help (43%). Remuneration of the anesthesiologist is fee for service (99%) and sessional (1%). CONCLUSION: Pre-anesthetic assessment clinics are common in Ontario. More development is required to enable patients to receive all aspects of their preoperative assessment during one visit.     

Placing poverty on the agenda of a primary health care team: an evaluation of an action research project

The period of the last Government in the UK was marked by increases in poverty and social exclusion, with the gap widening between rich and poor, and differentials being associated with, and further entrenched by, inequalities in health. In 1994, the Audit Commission pointed to the potential contribution which proactive and well coordinated health and welfare services could make to meeting the needs of vulnerable families, and suggested the setting up of local demonstration projects. This paper reports on the achievements and limitations of Nottingham's 2-year Strategies for Practice in Disadvantaged Areas (SPIDA) Project which tested a model of team learning about poverty in relation to those registered with an inner-city doctor's practice. Members of a primary health care team engaged in a self-directed development programme which, despite numerous staff changes, enabled them to learn how to learn together, enhanced their understandings of what it means to live in poverty, and facilitated the establishment of collaborative and productive interagency working relationships at a neighbourhood level. It is suggested that staff in health and welfare organizations wishing to implement anti-poverty strategies could usefully consider adopting this model of team learning to promote collective action and change.     

Informal caregiving for frail older people at home and in long-term care institutions: who are the key supporters?

This paper describes the extent of the informal caregiving unit for older people who are physically or mentally frail living in private households or resident in long-term care institutions using cross-sectional analysis of survey data. A total of 1444 people aged 65 years or more registered with a general practitioner (GP) in four areas in England and, consenting to the study, were screened for mental or physical frailty. Of 1127 older subjects living at home 7% reported receiving no informal support, 15% had a paid supporter only and 78% nominated a key informal supporter who helped with defined activities of daily living of whom 650 (74%) were interviewed. Only 13% nominated more than one informal supporter. Key supporters were spouses (38%), daughters (30%), sons (9%), daughters-in-law (4%), other relatives (11%) and friends and neighbours (8%). Of 317 frail older people resident in long-term care institutions 175 (55%) received a main visitor at least once a week of whom 132 (75%) were interviewed. Main visitors were spouses (11%), daughters (36%), sons (23%), daughters-in-law (2%), other relatives (24%) and friends (4%). Qureshi & Walker's (1989) hierarchical, decision-making model for selecting informal caregivers was applied to the data and correctly identified 85% of key informal supporters and 79% of main visitors interviewed. This large-scale comprehensive survey of informal care for frail older people supports earlier small-scale localized studies highlighting the key role of spouses and daughters in the provision of informal support. Families of frail older people provide the support to maintain people at home.     

NMDA receptor antagonism, but not AMPA receptor antagonism attenuates induced ischaemic tolerance in the gerbil hippocampus

Recent studies have shown that a brief ‘pre-conditioning' ischaemic insult reduces the hippocampal cell death caused by a subsequent more severe test insult. In the present studies, we have examined the effects of the non-competitive NMDA receptor antagonist ((5R,10S)-(+)-5-methyl-10,11-dihydro-5H-dibenzo[a,d]cyclohepten-5,10-imine, MK-801) a competitive NMDA receptor antagonist, LY202157, AMPA receptor antagonist ((3S,4aR,6R,8aR)-6-[2-(1(2)H-tetrazole-5-yl)]decahydroisoquinoline-3-carboxylic acid, LY293558), a non-competitive AMPA receptor antagonist ((−)-1-(4-amino-phenyl)-4-methyl-7,8-methylenedioxy-4,5-dihydro-3-acetyl-2,3-benzodiazepine, LY300164), and a mixed NMDA/AMPA receptor antagonist, LY246492, in a gerbil model of ischaemic tolerance. Ischaemic tolerance was induced by subjecting gerbils to a 2-min ‘pre-conditioning' ischaemia (bilateral carotid occlusion) 2 days prior to a 3-min test ischaemia. The effects of MK-801 (2 mg/kg i.p.), LY293558 (20 mg/kg i.p., followed by 4×10 mg/kg at 3 h intervals), LY300164 (4×10 mg/kg i.p. at 1 h intervals), LY246492 (40 mg/kg i.p., followed by 4×20 mg/kg i.p. at 3 h intervals) and LY202157 (30 mg/kg i.p., followed by 4×15 mg/kg i.p. at 2 h intervals) were then examined in this model. Initial dosing commenced 30 min prior to the 2-min ‘pre-conditioning' ischaemia. Results indicated that a 2-min ‘pre-conditioning' ischaemia produced ischaemic tolerance in all cases. The non-competitive NMDA receptor antagonist, MK-801, produced a significant (P<0.01) reduction in the induced tolerance, while the competitive NMDA receptor antagonist, LY202157, also attenuated (P<0.05) the induction of tolerance. In contrast, two AMPA receptor antagonists (LY293558 and LY300164) and a mixed NMDA/AMPA receptor antagonist (LY246492) had no effect on the induction of tolerance. These results suggest that NMDA receptor activation, but not AMPA receptor activation is involved in the phenomenon of ischaemic tolerance.