Biomedical subjects
Publications and source records attributed to R Quinlivan.
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BACKGROUND: McArdle's disease (Glycogen Storage Disease type V) is caused by the absence of the glycolytic enzyme, muscle phosphorylase. Patients present with exercise-induced pain, cramps, fatigue, myoglobinuria and acute renal failure, which can ensue if the myoglobinuria is severe. OBJECTIVES: To systematically review the evidence from randomised controlled trials of pharmacological or nutritional treatments in improving exercise performance and quality of life in McArdle's disease. SEARCH STRATEGY: We searched the Cochrane Neuromuscular Disease Group register (searched December 2001 and updated in December 2003), MEDLINE (January 1966 to December 2003) and EMBASE (January 1980 to December 2003) using the search term 'McArdle's disease and it's synonym 'Glycogen Storage Disease type V'. SELECTION CRITERIA: We included randomised controlled trials (including crossover studies) and quasi-randomised trials. Open trials and individual patient studies with no patient or observer blinding were included in the discussion but not the review. Types of interventions included any pharmacological agent or micronutrient or macronutrient supplementation. Primary outcome measures included any objective assessment of exercise endurance (for example VO2 max, walking speed, muscle force/power and improvement in fatiguability). Secondary outcome measures included metabolic changes (such as reduced plasma creatine kinase activity and a reduction in the frequency of myoglobinuria); subjective measures (including quality of life scores and indices of disability); and serious adverse events. DATA COLLECTION AND ANALYSIS: Two reviewers checked the titles and abstracts identified by the search, independently assessed methodological quality of the full text of potentially relevant studies and extracted data onto a specially designed form. MAIN RESULTS: We reviewed 20 trials. Ten trials fulfilled the criteria for inclusion and ten trials were included in the discussion. The largest treatment trial included 19 cases, the other trials included fewer than 12 cases. As there were only single trials for a given intervention we were unable to undertake a meta-analysis. REVIEWERS' CONCLUSIONS: It is not yet possible to recommend any specific treatment for McArdle's disease. Low dose creatine supplementation was shown to demonstrate a statistically significant benefit, albeit modest, in ischaemic exercise in a small number of patients. Ingestion of oral sucrose immediately prior to exercise reduces perceived ratings of exertion and heart rate and improves exercise tolerance. This treatment will not influence sustained or unexpected exercise and may cause significant weight gain. Because of the rarity of McArdle's disease, there is a need to develop multicentre collaboration and standardised assessment protocols for future treatment trials.
The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients.
The authors describe a randomized control study that tested the effectiveness of social skills training modules as an adjunct to an assertive community treatment (ACT) program. Implementation of the modules in this context presented multiple logistic and organizational problems. Only 21 of the 42 demonstration clients completed all or part of one of two scheduled modules. Thus the modules were not effective because of characteristics of the modules themselves, the nature of the overall program, and the study design. An ACT/social skills-training alliance would be more likely to succeed if individually tailored interventions were used rather than or supplementing the curriculum-based modules.
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Becker muscular dystrophy may be associated with myocardial abnormalities which are usually diagnosed after the onset of weakness. We present a patient who developed complete heart block 6 years before the onset of muscle weakness which occurred unusually late at the age of 62 years.
OBJECTIVE: The study evaluated the effects of an intensive case management model on clients' use of inpatient and outpatient psychiatric care and on the costs of care. METHODS: Ninety clients of a county mental health system who were frequent users of inpatient services were randomly assigned to either an intensive case management group, a traditional case management group, or a control group who received no particular services. Outcome variables measured over a two-year period were number of units used by clients and costs of inpatient care in county and private facilities and various types of outpatient care, including day treatment and use of an emergency psychiatric unit. RESULTS: Clients who received intensive case management had fewer inpatient days and reduced overall costs for mental health services. CONCLUSIONS: Assertive outreach and intensive case management can reduce hospitalizations of clients who are frequent users of inpatient care and can reduce overall mental health care costs. Mental health consumers employed as case management aides can play an important role in the delivery of mental health services, particularly with frequent users of inpatient care.
Two patients with a congenital neuropathy are described. Both had atypical features including: ichthyosis and a mild anterior chamber cleavage syndrome. Both had severely reduced, or absent, sensation for light touch, vibration, position and temperature. Pain sensation was mildly reduced. There was some evidence of motor involvement but this was relatively minor compared with the sensory involvement. Nerve action potentials were small or absent and sural nerve biopsies showed almost complete absence of myelinated nerve fibres with multiple bundles of abnormally arranged axons and Schwann cell processes. These patients appear to have an undescribed syndrome in which the large sensory neurons and the anterior chamber of the eye did not develop properly. This may reflect a failure of migration, differentiation or proliferation of neural crest cells.