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Objectives: (1) In a population-based study of tuberous sclerosis (TSC), to identify the number of patients presenting with symptomatic giant cell astrocytomas (GCAs); (2) within a subset of this population, to identify the number who would be diagnosed with GCAs on predetermined radiological criteria. Methods: Patients with TSC in Wessex (a geographical region of England) were identified, and their medical history determined. A subset were invited to have a cranial MRI if they did not have a history of a symptomatic GCA and if they were likely to tolerate cranial imaging without a general anaesthetic. Scans were performed according to a standard protocol on a single scanner and were reported blindly by a neuroradiologist. Results: 179 people were identified with TSC. Ten of these had a history of treatment for a symptomatic GCA. Forty-one of the remainder had a cranial MRI. Thirty-nine of these had subependymal nodules, of whom 24 (59%) had at least one (maximum 11) that showed enhancement with gadolinium. In seven (17%), the lesion was >1 cm, and all of these lesions showed gadolinium enhancement. Conclusions: In this study, the proportion of patients with TSC who had a history of symptomatic GCA was 5.6%. In the subset without such a history, who underwent imaging, the number diagnosed as having a GCA on radiological criteria was much higher (59% gadolinium enhancement and 17% >1 cm in size). Screening for GCAs (performing scans on asymptomatic patients with TSC) would therefore identify large numbers of patients who had not presented with symptoms. This finding leads us to recommend that screening should not be undertaken. [ABSTRACT FROM AUTHOR]

Discusses the causes of disease and how perspectives about health and medicine have changed over the years. Preoccupation that people have with health; Why and how a person gets a disease; Assertion that discussions of causation for diseases sometime get muddled by terminology; Necessary causes of disease; Statement that one cannot reasonably expect to ever understand exactly why some people are affected by diseases and other are not.

Background: The aetiology of the learning difficulty in tuberous sclerosis is debated. It may be related to the amount of tubers in the brain or caused by the infantile spasms that occur in early life. Aims: To examine the relative contributions to final intelligence (IQ) made by both cerebral tubers and infantile spasms. Methods: As part of an epidemiological study of tuberous sclerosis in the south of England, patients were recruited who were able to undergo magnetic resonance imaging (MRI) without the need for an anaesthetic. Epilepsy history was determined by interview and review of clinical records. IQ was assessed using either Wechsler intelligence scales or Raven's matrices. Results: A total of 41 patients consented to hove an MRI scan. IQ scores were normally distributed about a mean of 91. Twenty six patients had a positive history of epilepsy, and 11 hod suffered from infantile spasms. There was a significant relation between the number of tubers and IQ. Infantile spasm status partly confounded the relation between tubers and IQ, but did not render the relation statistically insignificant. The relation between infantile spasms and learning difficulty remained strong even when controlling for the number of tubers. [ABSTRACT FROM AUTHOR]

Public health concern has tended to focus on the dangers of obesity, but there is evidence that undernutrition may also pose a risk to physical and mental well-being, particularly in those who are already ill. Using the General Practice Research Database (see office for Population Censuses and Surveys, 1995), we followed up 10,128 men and women aged 18 years and over who had been diagnosed with cancer or cardiovascular disease to examine whether nutritional status, as indicated by BMI, affected rates of use of health care resources and mortality. In both diagnostic groups, patients with a BMI below 20 kg/m2 had higher rates of consultation with GP, higher rates of prescription and higher death rates during the follow-up period compared with those with a BMI of 20-< 25 kg/m2. In men and women with cardiovascular disease, poor nutritional status was associated with a sharply increased risk of hospital admission. Patients whose BMI was 30-< 40 kg/m2 also tended to have increased rates of GP consultation and prescription, and if they were under the age of 65 years, they had an increased risk of death. The results of the present study suggest that in men and women with cancer or cardiovascular disease, even minor degrees of undernutrition are associated with a marked increase in morbidity and mortality. [ABSTRACT FROM AUTHOR]

Context: Anxiety about bias, lack of accountability, and poor quality of peer review has led to questions about the imbalance in anonymity between reviewers and authors.Objective: To evaluate the effect on the quality of peer review of blinding reviewers to the authors' identities and requiring reviewers to sign their reports.Design: Randomized controlled trial.Setting: A general medical journal.Participants: A total of 420 reviewers from the journal's database.Intervention: We modified a paper accepted for publication introducing 8 areas of weakness. Reviewers were randomly allocated to 5 groups. Groups 1 and 2 received manuscripts from which the authors' names and affiliations had been removed, while groups 3 and 4 were aware of the authors' identities. Groups 1 and 3 were asked to sign their reports, while groups 2 and 4 were asked to return their reports unsigned. The fifth group was sent the paper in the usual manner of the journal, with authors' identities revealed and a request to comment anonymously. Group 5 differed from group 4 only in that its members were unaware that they were taking part in a study.Main Outcome Measure: The number of weaknesses in the paper that were commented on by the reviewers.Results: Reports were received from 221 reviewers (53%). The mean number of weaknesses commented on was 2 (1.7, 2.1, 1.8, and 1.9 for groups 1, 2, 3, and 4 and 5 combined, respectively). There were no statistically significant differences between groups in their performance. Reviewers who were blinded to authors' dentities were less likely to recommend rejection than those who were aware of the authors' identities (odds ratio, 0.5; 95% confidence interval, 0.3-1.0).Conclusions: Neither blinding reviewers to the authors and origin of the paper nor requiring them to sign their reports had any effect on rate of detection of errors. Such measures are unlikely to improve the quality of peer review reports. [ABSTRACT FROM AUTHOR]

To investigate a possible link between subclinical infection with poliovirus in childhood and increased risk of motor neuron disease in adult life, environmental determinants of infection in early life were compared in 98 cases of motor neuron disease and 335 age and sex matched controls. A weak but consistent relation was found between motor neuron disease and factors in the childhood environment known to increase likelihood of enteric infection. Relative risks associated with spending the first 10 years of life in a house without domestic amenities such as a bathroom, running hot water or flushing lavatory, living in overcrowded conditions, frequent changes of address or having a sibling with paralytic poliomyelitis were all greater than unity, although only those for absence of running hot water and frequent changes of address were statistically significant. [ABSTRACT FROM AUTHOR]

Persistent regular oscillations of the pupil of the eye can be induced using a slit-lamp. The period of these oscillations, pupil cycle time (PCT), is simple to measure with a hand-held stop-watch. Evidence from pharmacological testing suggests that PCT is a sensitive measure of dysfunction of the parasympathetic efferent limb of the pupillary light reflex arc. This is confirmed by the finding that PCT is prolonged in a high proportion of patients with evidence of autonomic neuropathy judged by abnormalities of their cardiovascular reflexes. The method provides a simple, non-invasive way of quantifying an autonomic reflex and it may be of value in investigating patients with diseases affecting the autonomic nervous system. [ABSTRACT FROM AUTHOR]

The recent concept of sudden unexplained death in epilepsy has made clinicians more aware of epilepsy related deaths. With the publication of the National Sentinel Clinical Audit of Epilepsy Related Death, the general public and the media became concerned at this apparently new phenomenon. When examining age effects it is clear that mortality from epilepsy shows a small peak in early life. It is possible this reflects mortality in those children with severe hypoxic ischaemic encephalopathy, brain malformations and inherited metabolic disorders. Risk then falls to a minimum around the age of 10 years, rises again in late adolescence and early adulthood, before leveling off throughout most of adult life.

Nuclear magnetic resonance (NMR) imaging has been used to visualise a localised area of demyelination in the dorsal pons of a patient who presented with an unusual disorder of eye movements, namely, the one-and-a-half syndrome. Judged clinically the patient made a nearly complete recovery, but little change was apparent in the NMR image six months later. [ABSTRACT FROM PUBLISHER]