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Biomedical subjects

L Roe

Publications and source records attributed to L Roe.

16 recordsLinked to original sources

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

OBJECTIVE: To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the most common Myocilin mutation (Gln368STOP). DESIGN: Cross-sectional genetic study. PARTICIPANTS: Eight pedigrees carrying the Gln368STOP mutation were ascertained from 1730 consecutive cases of POAG in the Glaucoma Inheritance Study in Tasmania. METHODS: Index cases and available family members were examined for signs of glaucoma, and the presence of the GLC1A Gln368STOP mutation was ascertained by single-strand conformation polymorphism analysis and subsequent direct sequencing. RESULTS: From the eight pedigrees, 29 Gln368STOP mutation-carrying individuals with either ocular hypertension (OHT) or POAG were found, with a mean age at diagnosis of 52.4 +/- 12.9 years and a mean peak intraocular pressure (IOP) of 28.4 +/- 4.7 mmHg. A further 11 mutation carriers older than 40 years have been studied, who as yet show no signs of OHT or POAG. Within the 8 pedigrees, a further 31 individuals with OHT or POAG were identified who did not carry the Gln368STOP mutation. For these individuals the mean age at diagnosis was higher (62.3 +/- 13.7 years, P < 0.01), and the mean peak IOP was lower (25.4 +/- 6.4 mmHg, P = 0.01). For Gln368STOP carriers, age-related penetrance for OHT or POAG was 72% at age 40 years and 82% at age 65 years. A positive family history of POAG was present in all index cases. Five of the eight pedigrees had a positive family history on both maternal and paternal sides. Seven of the eight pedigrees had one or more individuals with POAG who did not carry the mutation. Eight of the 29 Gln368STOP carriers with OHT or POAG had undergone trabeculectomy. CONCLUSIONS: The GLC1A Gln368STOP mutation is associated with POAG, which in the pedigrees studied is of a younger age of onset and higher peak IOP than non-mutation glaucoma cases. In addition, Gln368STOP mutation glaucoma cases were more likely to have undergone glaucoma drainage surgery. We have not observed simple autosomal dominant inheritance patterns for POAG in these pedigrees. Other factors, as yet uncharacterized, are involved in expression of the POAG phenotype in Gln368STOP pedigrees.

Adult↗

Mice unresponsive to GM-CSF are unexpectedly resistant to cutaneous Leishmania major infection.

Granulocyte-macrophage colony-stimulating factor (GM-CSF) has been shown to play a protective role in leishmanial infection. Mice with a null mutation in the gene for the beta common (beta c) chain of the receptors for GM-CSF, interleukin(IL)-3 and IL-5 (beta c-null mice) display normal steady state hemopoiesis and develop lung disease similar to the human condition, alveolar proteinosis, due to a lack of signaling by GM-CSF. We therefore expected to observe a heightened sensitivity to Leishmania major in the beta c-null mice. Surprisingly, the beta c-null mice were more resistant to cutaneous infection than wild-type (wt) mice. Upon intradermal injection of L. major promastigotes, fewer beta c-null mice developed cutaneous lesions than wt mice and these lesions were smaller and healed more rapidly than in wt mice. This resistance to disease was associated with a reduced percentage of in vitro infected beta c-null macrophages. Macrophages from beta c-null mice displayed a more activated phenotype and produced increased amounts of nitric oxide following infection with L. major, both in vivo and in vitro. Paradoxically, however, the parasite burden in the draining lymph nodes was similar in both beta c-null and wt mice, suggesting that at least a subpopulation of cells was susceptible to the parasite. The mechanism preventing normal lesion development remains to be elucidated.

Animals↗

The unhealthy lifestyle of people with schizophrenia.

BACKGROUND: Schizophrenia has a high natural mortality of a largely environmental aetiology. There is, however, little research about possible risk factors. This study measured the diet, cigarette and alcohol use, exercise and obesity of a cohort of people with schizophrenia and compared results to general population rates. METHODS: Semi-structured interview using validated research instruments on 102 middle-aged subjects with a diagnosis of schizophrenia, living in the community. Results were compared to general population norms using standard statistical tests. RESULTS: The subjects ate a diet higher in fat and lower in fibre than the general population. They look little exercise but were not significantly more obese. They smoked heavily but drank less alcohol. Most differences remained significant after controlling for social class. CONCLUSIONS: People with schizophrenia have an unhealthy lifestyle, which probably contributes to the excess mortality of the disease. They are therefore an appropriate target group for health promotion interventions.

Energy Intake↗

Validation of dietary assessment methods in the UK arm of EPIC using weighed records, and 24-hour urinary nitrogen and potassium and serum vitamin C and carotenoids as biomarkers.

BACKGROUND: In the UK EPIC validation studies, the accuracy of several methods was assessed by comparison with to-day weighed records and the biomarkers, 24-hour urine nitrogen (N) and potassium (K), plasma carotenoids and plasma vitamin C. METHODS: Comparisons between methods were made on 156 women, studied over 1 year at 3-monthly intervals at home. On each of four occasions, volunteers completed 4 days of weighed records and provided two 24-hour urine collections and a fasting blood sample. RESULTS: In comparison with the 16 days of weighed records, a food frequency questionnaire (FFQ) yielded higher values mainly due to greater reported consumption of milk and of vegetables. A 24-hour recall was as good as the FFQ in placing individuals in the distribution of habitual diet from weighed records. Results obtained from a 7-day estimated record were closest to those obtained from the weighed record. Correlations between 24-hour urine excretion and dietary N intake from weighed records were high (0.78-0.87) as were those with estimated food diaries (0.60-0.70). Correlations between urine N and the FFQ and 24-hour recall were lower (0.10 to 0.27), but improved by energy adjustment using residuals for N and K which are correlated with total energy intake. Comparisons between dietary estimates and urinary K and serum carotenoids and vitamin C showed broadly similar results. Limited biomarker information amongst 200 UK EPIC participants supported the findings of the validation study. CONCLUSIONS: UK EPIC uses three methods (the 7-day diary, an improved FFQ, and the 24-hour recall) to assess diet. 93% of first food diaries are returned completed by participants. Repeated diaries are the main dietary assessment method for nested case-control analyses.

Aged↗

Randomised trial of lipid lowering dietary advice in general practice: the effects on serum lipids, lipoproteins, and antioxidants.

OBJECTIVE: To determine the relative efficacy in general practice of dietary advice given by a dietitian, a practice nurse, or a diet leaflet alone in reducing total and low density lipoprotein cholesterol concentration. DESIGN: Randomised six month parallel trial. SETTING: A general practice in Oxfordshire. SUBJECTS: 2004 subjects aged 35-64 years were screened for hypercholesterolaemia; 163 men and 146 women with a repeat total cholesterol concentration of 6.0-8.5 mmol/l entered the trial. INTERVENTIONS: Individual advice provided by a dietitian using a diet history, a practice nurse using a structured food frequency questionnaire, or a detailed diet leaflet sent by post. All three groups were advised to limit the energy provided by fat to 30% or less and to increase carbohydrate and dietary fibre. MAIN OUTCOME MEASURES: Concentrations of total cholesterol and low density and high density lipoprotein cholesterol after six months; antioxidant concentration and body mass index. RESULTS: No significant differences were found at the end of the trial between groups in mean concentrations of lipids, lipoproteins, and antioxidants or body mass index. After data were pooled from the three groups, the mean total cholesterol concentration fell by 1.9% (0.13 mmol/l, 95% confidence interval 0.06 to 0.22, P < 0.001) to 7.00 mmol/l, and low density lipoprotein cholesterol also fell. The total carotenoid concentration increased by 53 nmol/l (95% confidence interval 3.0 to 103, P = 0.039). CONCLUSIONS: Dietary advice is equally effective when given by a dietitian, a practice nurse, or a diet leaflet alone but results in only a small reduction in total and low density lipoprotein cholesterol. To obtain a better response more intensive intervention than is normally available in primary care is probably necessary.

Antioxidants↗

Comparison of dietary assessment methods in nutritional epidemiology: weighed records v. 24 h recalls, food-frequency questionnaires and estimated-diet records.

Women (n 160) aged 50 to 65 years were asked to weigh their food for 4 d on four occasions over the period of 1 year, using the PETRA (Portable Electronic Tape Recorded Automatic) scales. Throughout the year, they were asked to complete seven other dietary assessment methods: a simple 24 h recall, a structured 24 h recall with portion size assessments using photographs, two food-frequency questionnaires, a 7 d estimated record or open-ended food diary, a structured food-frequency (menu) record, and a structured food-frequency (menu) record with portion sizes assessed using photographs. Comparisons between the average of the 16 d weighed records and the first presentation of each method indicated that food-frequency questionnaires were not appreciably better at placing individuals in the distribution of habitual diet than 24 h recalls, due partly to inaccuracies in the estimation of frequency of food consumption. With a 7 d estimated record or open-ended food diary, however, individual values of nutrients were most closely associated with those obtained from 16 d weighed records, and there were no significant differences in average food or nutrient intakes.

Diet Records↗

Dietary intervention in primary care: validity of the DINE method for diet assessment.

Primary health care staff are involved increasingly in the provision of dietary advice for health promotion, often without adequate training in nutrition assessment or counselling. At present no brief diet assessment methods are available which have been validated for this purpose in the UK. We report on the accuracy of the Dietary Instrument for Nutrition Education (DINE) in classifying dietary fat and fibre intakes. This structured questionnaire can be administered and scored in under 10 minutes by primary care staff without specialized nutritional knowledge, and includes a dietary counselling component. The classification of fat and fibre intakes as low, medium or high by the DINE method was compared to that of a detailed 4-day diet record in a population of 206 factory workers. There was exact agreement of categorization for 53% of fat intakes and 52% of fibre intakes, and only 6% of fat intakes and 5% of fibre intakes were grossly misclassified (placed in a high category by one method and a low category by another). Pearson correlation coefficients between the two methods were 0.51 for fat, 0.46 for fibre and 0.43 for the polyunsaturated:saturated fat ratio. The DINE method is a brief and inexpensive tool for diet assessment in primary care health promotion programmes.

Counseling↗

Cardiovascular risk and attitudes to lifestyle: what do patients think?

OBJECTIVE: To examine the relation between subjects' level of cardiovascular risk and their beliefs about the harmfulness of their smoking habit, current diet, and level of exercise, together with their stated desire to modify such behaviour. DESIGN: Self administered postal health and life-style questionnaire followed by a structured health check conducted by a nurse. SETTING: Five general practices in Luton and Dunstable, Bedfordshire. SUBJECTS: 5803 people aged 35-64 years enrolled in the OXCHECK trial who attended for a health check before 1 March 1992. MAIN OUTCOME MEASURES: Perceived risk to health of lifestyle behaviours, desire to modify behaviour, and a reported serious attempt to modify behaviour in the preceding year. RESULTS: A high proportion of smokers and those who were physically inactive perceived their behaviour to be harmful (1020; (76%; 95% confidence interval 74% to 79%) and 350 (74%; 70% to 78%) respectively) and wished to modify it (1212 (79%; 77% to 81%) and 375 (74%; 71% to 78%) respectively). In contrast, only 289 (45%; 41% to 48%) of obese people and 188 (14%; 12% to 16%) of people with a high dietary fat intake perceived their current diet to be harmful. The more cardiovascular risk factors present, the more likely subjects were to perceive a health risk attached to their diet and lack of exercise (p < 0.01 in both cases) and to want to improve their diet. CONCLUSION: Awareness of the health risk from smoking and motivation to stop is high. Further efforts are required, however, to educate the public about the risks associated with a high dietary fat intake. Although the health risks of inactivity were widely recognised, motivation to take more exercise needs to be increased.

Adult↗

Lifestyle advice in general practice: rates recalled by patients.

OBJECTIVE: To document how often patients with varying cardiovascular risk levels reported receiving lifestyle advice from general practice. DESIGN: Cross sectional descriptive survey by postal questionnaire. SETTING: 5 general practices in Bedfordshire. SUBJECTS: 4941 people aged 35-64 years who had consulted a general practitioner at least once during the 12 months before completing the questionnaire and who subsequently attended for a health check as part of the OXCHECK trial. MAIN OUTCOME MEASURES: Report of having received advice from a general practitioner or practice nurse about smoking, alcohol consumption, exercise, or diet during the 12 months before completing the questionnaire. Cardiovascular risk assessed by a nurse during structured health check. RESULTS: The overall reported rate of advice was 27% for smoking, 4.5% for exercise, 12% for diet, and 3% for alcohol consumption. Those with unhealthy behaviour profile or at increased cardiovascular risk received more advice--for example, 47% of smokers with a history of cardiovascular disease received advice on smoking. Among those at increased risk, men were more likely than women to receive advice about exercise (11% v 4%, p = 0.04) and alcohol consumption (10% v 4%, p = 0.007), while women received more advice about weight (17% v 23%, p < 0.001). The rate of receiving advice was unaffected by age, marital status, or social class. CONCLUSION: The low rate of lifestyle advice reported by patients implies that more preventive advice could be provided in primary care.

Adult↗

Dietary intake and plasma lipid levels: lessons from a study of the diet of health conscious groups.

AIM: To re-examine the contentious relation between diet and plasma lipids within a population. DESIGN: Cross sectional sample from a large prospective cohort study of people eating different diets in Britain. Blood samples and diet records collected from subjects. SUBJECTS: Volunteers eating one of four distinct diets--namely, vegans, vegetarians, fish eaters who do not eat meat, and meat eaters. 52 Subjects selected from each group. METHODS: Examination of the relation between nutritional intake recorded in a four day dietary record and plasma lipid concentrations of subjects measured in blood samples collected previously. RESULTS: After controlling for age, sex, and body mass index, the correlation between plasma total cholesterol and the Keys score (which includes dietary cholesterol and saturated and polyunsaturated fat) was 0.37 (p less than 0.001). The mean saturated fat intake in all groups was low (6-14% of energy), but polyunsaturated fat intake was high, so mean total fat intake was generally above that recommended. A high dietary fibre intake was not associated with high carbohydrate intake. Plasma high density lipoprotein values were not associated with any measure of fat intake, but there was a significant correlation of 0.24 between high density lipoprotein values and alcohol intake. CONCLUSIONS: The nature rather than quantity of dietary fat is an important determinant of cholesterol concentrations. Health conscious individuals select a fat modified, rather than a low fat--high carbohydrate diet. National cholesterol lowering dietary advice should be reconsidered.

Adult↗

Testosterone, sex hormone-binding globulin, calculated free testosterone, and oestradiol in male vegans and omnivores.

Total testosterone (T), total oestradiol (E2) and sex hormone-binding globulin (SHBG) concentrations were measured in plasma samples from fifty-one male vegans and fifty-seven omnivores of similar age. Free T concentration was estimated by calculation. In comparison with the omnivores, the vegans had 7% higher total T (P = 0.250), 23% higher SHBG (P = 0.001), 3% lower free T (P = 0.580), and 11% higher E2 (P = 0.194). In a subset of eighteen vegans and twenty-two omnivores for whom 4 d diet records were available, there were statistically significant correlations between T and polyunsaturated fatty acids (r 0.37), SHBG and fat (r 0.43 for total fat, 0.46 for saturated fatty acids and 0.33 for polyunsaturated fatty acids), and SHBG and alcohol (r-0.39). It is concluded that a vegan diet causes a substantial increase in SHBG but has little effect on total or free T or on E2.

Adult↗