Myophosphorylase deficiency: the course of an unusual congenital myopathy

A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was "myopathic," serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.     

Prevalence of comorbid psychiatric illness and substance misuse in primary care in England and Wales

STUDY OBJECTIVE: To estimate the annual period prevalence of co-occurring psychiatric illness and substance misuse among patients in primary care. DESIGN: Analysis of the general practice research database. SETTING: England and Wales, 1993-1998. PARTICIPANTS: Registered patients at 230 general practices representing 3.1% of the population. A comorbid case was defined as one with both a psychiatric diagnosis and substance misuse diagnosis (not including alcohol or tobacco) within a calendar year. A potentially chronic comorbid case was one that met this definition and, in addition, was treated in subsequent years for either a psychiatric condition or substance misuse. MAIN RESULTS: The annual period prevalence of comorbidity increased from 50/100 000 patient years of exposure (PYE) to 80/100 000 PYE, an increase of 62% during the study period. Rates of comorbid psychoses, comorbid schizophrenia, and comorbid paranoia increased by 147%, 128%, and 144%. The average age of comorbid cases decreased from 38 years to 34 years. Over 80% of comorbid cases were newly diagnosed in each study year, although many are treated in subsequent years for either psychiatric illness or substance misuse. CONCLUSIONS: This study provides data on the nature and extent of comorbidity in primary care in England and Wales. As the comorbidity rate is increasing by about 10% each year, and as comorbid cases are becoming younger, it is probable that the comorbidity rate will have increased beyond the study end point.     

Trends in drug misuse recorded in primary care in the UK from 1998 to 2005

BACKGROUND: A recent report by the UK Drugs Policy Commission has highlighted the high levels of drug use in Britain and this has been interpreted as indicative of ineffective drug polices. However, the interpretation was based on sporadic self-report data and indirect extrapolation. This paper assesses trends in the prevalence and incidence of drug misuse in the UK from 1998 to 2005 as recorded in general practice. METHODS: The study was a retrospective analysis of the General Practice Research Database. The study cohort comprised approximately 900,000 patients each year from 183 general practices. RESULTS: Among the Government's key target age group (16-24 years), there was a marked decrease in both prevalence and incidence of illicit drug misuse from 1998 to 2002 (P < 0.01). In older adults (25-59 years), the pattern was more variable during the first part of this period, but incidence remained stable from 2002 to 2005. CONCLUSIONS: These data indicate that the problematic drug use in the UK may be declining and that the policies may be more effective than has been previously thought. General Practice data are nonetheless only part of the picture in terms of understanding the prevalence of problematic drug use.     

Validating estimates of problematic drug use in England

Background  

UK Government expenditure on combatting drug abuse is based on estimates of illicit drug users, yet the validity of these estimates is unknown. This study aims to assess the face validity of problematic drug use (PDU) and injecting drug use (IDU) estimates for all English Drug Action Teams (DATs) in 2001. The estimates were derived from a statistical model using the Multiple Indicator Method (MIM).     

Mu and alpha rhythm in comatose children

Three anoxic comatose children had EEG alpha-like activity and in two of them mu rhythm was recorded. The paradoxical appearance of these electrical activities in comatose children seems to indicate a grave prognosis. A possible role for barbiturate treatment in this phenomenon is not excluded.     

Motor neuron disease in textile factory workers

Five cases of motor neuron disease occurred during the period 1983-1987 in 4 small and medium-sized textile factories. These cases were 45% of 11 motor neuron disease patients diagnosed in this period in a population of about 300,000 persons. This observations may be relevant to toxic occupational hazards in the pathogenesis of motor neuron disease.     

Thiamine-responsive acute neurological disorders in nonalcoholic patients

Wernicke's encephalopathy (WE) is most commonly associated with alcoholism, although other causes have also been implicated. In the years 1994-1997, 9 patients with no history of alcohol abuse presented with acute signs of ophthalmoplegia or nystagmus and ataxia which resolved within 48 h after intravenous thiamine. There were 7 women and 2 men aged 17-57 (7 below the age of 30). Precipitating events included vomiting 2, drastic weight-reducing diet 2, renal colic in a postpartum woman 1, colonic surgery 2 and chronic hemodialysis 1. In 2 patients there was no obvious precipitating event but their history was suggestive of a genetic predisposition. Mental changes were slight or absent in all patients and all of them made good functional recovery. These cases suggest that the diagnosis of WE should be considered more often in nonalcoholics in various clinical settings.