The natural history of untreated phenylketonuria over 20 years

Fifty-one adults with untreated phenylketonuria (PKU), have been reviewed after a 20 year interval, at ages ranging from 28.8 to 71.8 years. Five died of causes unrelated to PKU. Three severely affected individuals had shown a progressive loss of motor function and three had developed epilepsy, bringing the total with this problem to 12. No loss of abilities was apparent in 41 patients. Other health problems, including cataracts, were not frequent. Serum phenylalanine levels had decreased over the 20 year period. Untreated PKU does not generally cause progressive loss of abilities during adult life.     

The potential of an anaesthesiologist–manned ambulance service in a rural/urban district

The use of anaesthesiologists in prehospital emergency care is controversial. We wanted to assess the impact of an anaesthesiologist and a short time interval from acceptance of a mission to take–off at survival rates in a rural/urban emergency medical service. Prospectively registered data for 991 consecutive patients through a 12–month period were retrospectively evaluated by an independent foreign expert. Of all primary missions, 3.3% were considered probably lifesaving from site of injury to receiving hospital. Of these, the lifesaving result in 50% were dependent on both the qualifications of the anaesthesiologist and a short response time. Survival from hospital admission to discharge was 44%. All patients were discharged to their own homes, able to live a fully functional life. The consistent use of anaesthesiologists compared to less qualified personnel and the maintaining of response times below presently required minima doubles the potential for lives saved in services comparable to the one studied.     

Auditory Perception and the Control of Spatially Coordinated Action of Deaf and Hearing Children

From birth onwards, auditory stimulation directs and intensifies visual orientation behaviour. In deaf children, by definition, auditory perception cannot take place and cannot, therefore, make a contribution to visual orientation to objects approaching from outside the initial field of view. In experiment 1, a difference in catching ability is demonstrated between deaf and hearing children (10-13 years of age) when the ball approached from the periphery or from outside the field of view. No differences in catching ability between the two groups occurred when the ball approached from within the field of view. A second experiment was conducted in order to determine if differences in catching ability between deaf and hearing children could be attributed to execution of slow orientating movements and/or slow reaction time as a result of the auditory loss. The deaf children showed slower reaction times. No differences were found in movement times between deaf and hearing children. Overall, the findings suggest that a lack of auditory stimulation during development can lead to deficiencies in the coordination of actions such as catching which are both spatially and temporally constrained.     

Development of quality of care indicators for Parkinson's disease.

Parkinson's disease (PD) is a major cause of disability. To date, there have been no large-scale efforts to measure the quality of PD care because of a lack of quality indicators for conducting an explicit review of PD care processes. We present a set of quality indicators for PD care. Based on a structured review of the medical literature, 79 potential indicators were drafted. Through a two-round modified Delphi process, an expert panel of seven movement disorders specialists rated each indicator on criteria of validity, feasibility, impact on outcomes, room for improvement, and overall utility. Seventy-one quality indicators met validity and feasibility thresholds. Applying thresholds for impact on outcomes, room for improvement, and overall utility, a subset of 29 indicators was identified, spanning dopaminergic therapy, assessment of functional status, assessment and treatment of depression, coordination of care, and medication use. Multivariable analysis showed that overall utility ratings were driven by validity and impact on outcomes (P < 0.01). An expert panel can reach consensus on a set of highly rated quality indicators for PD care, which can be used to assess quality of PD care and guide the design of quality improvement projects.     

An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS).

Velo-cardio-facial syndrome (VCFS) is associated with deletions on the long arm of chromosome 22, mild intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies investigating the neuropsychological functioning of adults with VCFS. We compared 19 adults with VCFS with 19 age, gender and IQ matched controls using a comprehensive neuropsychological battery. Compared to controls, adults with VCFS had significant impairments in visuoperceptual ability (Visual Object and Space Perception Battery), problem solving and planning (Tower of London) and abstract and social thinking (Comprehension WAIS-R). It is likely that haploinsufficiency (reduced gene dosage) of a neurodevelopmental gene or genes mapping to chromosome 22q11 underlies the cognitive deficits observed in individuals with VCFS.     

健康教育在糖尿病病人中的应用

目的：通过对患者在住院过程中的系统教育，使患者了解自己疾病的知识，提高患者对糖尿病的认知水平和自我管理能力，养成良好的健康行为和生活方式，从而提高生活质量。方法：采用集体、个体、自学等形式进行教育。结果：通过培养，患者掌握了一些基本的操作技能，明显缩短了住院日，同时激发了护士与患者学习专业知识的热情，减少或延缓了并发症的发生。结论：①健康教育是一个护患双边活动过程。②通过教育，可不断提高护士的自身修养和专业知识水平。③健康教育是糖尿病患者学习糖尿病知识，提高自我护理能力的有效途径。     

Eligible Veterans'' Choice Between VA-covered and Non-VA-covered Dental Care

Veterans who were eligible for dental care in Department of Veterans Affairs (VA) facilities at no monetary cost responded to a mailed questionnaire. Seventy-one percent were aware that they were actually eligible for VA dental care. However, only 48 percent reported the VA as their only or primary source of dental care. Eligibility status, perceived quality of VA dental care, use of VA medical care, perception that one's income meets expenses, and perceived need for dental care were significant correlates of using the VA as one's current source of dental care. Level of formal education, perception that one's income meets expenses, transportation pattern, geographic distance from a VA facility, and eligibility status were significant correlates of using the VA as one's current medical care source. Research on VA utilization offers the opportunity to study issues of access to, and use of, a large public health care system whose patients largely receive care at no monetary cost. Veterans' use of VA dental and medical care is apparently influenced by a wide variety of factors, ranging from barriers to access to non-VA systems, to characteristics of the VA delivery system itself, to need for treatment.     

Department of Palliative Care in Bratislava and the development of the palliative care movement in Slovakia

 Slovakia is a country with no tradition of home care services and a long history of regarding death and dying as taboos and therefore institutionalising them. Increased attention to palliative care issues has resulted in some important changes, to the benefit of patients in need of palliative care. These include general availability of oral slow-release forms of strong opioids (cost completely reimbursed by the insurance companies), a developing network of home care agencies, and increased attention to the needs of palliative patients, especially among oncologists and pain specialists. In February 1995 the Department of Palliative Care was established within the National Cancer Institute in Bratislava. It has 19 in-patient beds and also an out-patient clinic. Although the primary goal is the improvement of the quality of life, several approaches that can prolong life without worsening its quality are also used. These include laser destruction of intraluminal gastrointestinal tumours, insertion of intraluminal stents, brachyradiotherapy, pleurodeses, percutaneous gastrostomy, percutaneous nephrostomy, palliative chemotherapy, treatment of hypercalcaemia. In 1995 the Palliative Care Section of the Association for Study and Treatment of Pain was established, as was thefirst Hospice Foundation.