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Biomedical subjects

S Michie

Publications and source records attributed to S Michie.

At least 19 recordsLinked to original sources

Effects of humid heat exposure on human sleep stages and body temperature.

The objective of this study was to confirm the effect of humid heat exposure on sleep stages and body temperature. Seven healthy male volunteers with a mean age of 22.7+/-1.63, served as the subjects. The experiments were carried out under four different conditions of room temperature and relative humidity: 29 degrees C RH 50% (29/50), 29 degrees C RH 75% (29/75), 35 degrees C RH 50% (35/50), and 35 degrees C RH 75% (35/75). The subjects wearing only shorts slept from 23:00 to 7:00 on a bed, which was covered with a 100% cotton sheet. EEG, EOG, and mental EMG were recorded through the night. Rectal temperature (Tr) and skin temperature were measured continuously. The 35/75 condition caused more wake and a lower sleep efficiency index (SEI) and stage S3+S4 than 29/50 and 29/75. Stage REM and stage 3 were significantly decreased at 35/75 than at 29/50 and 35/50. Tr was maintained at a higher level at 35/75 than under the other conditions. Mean skin temperature was higher at 35/50 and 35/75 than at 29/50 and 29/75. These results suggest that humid heat exposure during night sleep increases the thermal load to supress the sleep-evoked Tr decrease, stage 3, SWS, and REM, and increase wakefulness.

Adult

Prenatal tests: how are women deciding?

Women offered prenatal tests should be given sufficient information to enable them to make an informed decision. We compared the decision-making of 261 women who underwent serum screening for Down syndrome with 63 who did not. A questionnaire completed at 16 weeks' gestation assessed systematic decision-making (the weighing up of pros and cons on the basis of information presented), knowledge, anxiety and demographic information. Those undergoing screening were older but, with age partialled out, they had more knowledge about the test and made decisions less systematically than those not screened.

Adult

Incorrect recall of residual risk three years after carrier screening for cystic fibrosis: a comparison of two-step and couple screening.

OBJECTIVE: This study was undertaken to compare long-term recall of the meaning of test results after a negative result of 2-step or couple antenatal screening. STUDY DESIGN: In a randomized controlled trial a subject-completed questionnaire was sent to 275 women who had undergone couple testing 3 years earlier and 83 women who had undergone 2-step testing 3 years earlier (n = 263/358 for a response rate of 73%). The main outcome measure was understanding of test results. RESULTS: Three years after testing women who had undergone couple testing were 4.5 times (95% confidence interval 2.4-8.4 times) more likely than those who had undergone 2-step testing to accurately recall that the test result meant that they were unlikely to be carriers for cystic fibrosis (80%, 95% confidence interval 74%-86%, versus 49%, 95% confidence interval 36%-61%). Anxiety level, plans to have more children, and age were unrelated to recall. CONCLUSION: The results of this study, together with those from other evaluations, suggest that not only does couple testing avoid the high levels of anxiety associated with 2-step testing but it also results in greater awareness of the residual risk inherent in a negative screening test result.

Adult

Revealed identity: a study of the process of genetic counselling.

This paper describes a qualitative study of the processes employed within a genetic counselling consultation. These processes, it is argued, can be seen to provide the patient with a genetic identity. But unlike the new identity conferred by the diagnosis of many chronic medical conditions a genetic identity is presented as an old one that is now revealed. This represents a reversal of the stigmatising process: instead of a spoiled identity replacing an actual one, the genetic consultation involves revealing an actual identity in the place of a previously presumed one. In this way, genetic counselling reconstructs identity in the past as well as in the future.

Communication

Objectives of genetic counselling: differing views of purchasers, providers and users.

BACKGROUND: This study aimed to compare the views of purchasers, providers and users about the objectives of genetic counselling. METHODS: A modified Delphi technique was used, incorporating two postal questionnaires that were sent to six study groups with a three-month interval: purchasers (public health doctors (n = 37) and regional advisers in general practice (n = 35)); providers (clinical geneticists (n = 33) and genetic counsellors (n = 25)); and users (out-patients (n = 36) and members of genetic support groups (n = 32)). The response rate for the first questionnaire was 115/198 (58 per cent) and for the second, 102/198 (52 per cent). The first questionnaire asked an open-ended question about what the objectives of genetic counselling should be and asked respondents to rank order them. The second questionnaire summarized the views expressed in the first questionnaire and asked respondents to rank order the most frequently cited and most highly ranked five objectives. RESULTS: The five most frequently cited and highly ranked objectives from Questionnaire One were, in descending order: provide information, give support, facilitate decision-making, assess risk and achieve understanding. In response to Questionnaire Two, purchasers differed from providers and users in rating 'facilitate decision-making' more highly than did providers and users. By contrast, providers and users rated 'give information' more highly than did purchasers. CONCLUSIONS: Purchasers hold different views from providers and users about what the objectives of genetic counselling should be. This raises two questions: (1) Which views are or should be most influential in the future development of genetic counselling? (2) By what processes can more than one view on genetic counselling be integrated?

Attitude of Health Personnel

Genetic counselling: the psychological impact of meeting patients' expectations.

We know little about patients' expectations of genetic counselling, the extent to which these are met, and whether meeting expectations is associated with improved patient outcome. This study describes 131 consultations of patients referred to a regional genetics centre, and documents their expectations, the extent to which these are met, and the predictors and consequences of expectations being met. The outcomes assessed were state anxiety, concern about the problem for which the patient was referred, and satisfaction with information given. Patients came to genetic counselling expecting information (79%), explanation (63%), reassurance (50%), advice (50%), and help in making decisions (30%). The majority got what they were expecting: 74% had their expectation for information met, 56% had their expectation for explanation met, 60% had their expectation for reassurance met, 61% had their expectation for advice met, and 73% had their expectation for help with making decisions met. Patient expectations, and whether or not these were met, were not predicted by any of the patient or counsellor variables measured. When patients' expectations for reassurance and advice were met, patients were less concerned and their anxiety level was more reduced than when such expectations were not met. Meeting patients' expectations for information, explanation, or help with decision making were not associated with better outcomes. Explanations for these results and implications for the practice of genetic counselling are discussed.

Adult

Presentation of screen negative results on serum screening for Down's syndrome: variations across Britain.

OBJECTIVES: To document current practice of communicating screen negative results to pregnant women undergoing a test for Down's syndrome. SETTING: 169 British NHS hospital antenatal clinics currently offering multiple marker serum screening for Down's syndrome and giving results directly to women. METHODS: All 169 clinics were sent a letter asking about the method and form of communicating screen negative results. RESULTS: In only 29% of programmes were specific arrangements made to inform women of screen negative results, and in 5% these results were not given at all. Screen negative results were given as a verbal phrase in 44% of programmes, as a risk figure in 16% of programmes and as both in 40% of programmes. CONCLUSIONS: These results highlight a gap between screening policy guidelines and practice in the case of Down's syndrome serum screening.

Communication

Nondirectiveness in genetic counseling: an empirical study.

Nondirectiveness is considered an essential part of genetic counseling, yet there is no generally accepted definition nor data documenting its impact on counselees. This study is an empirical investigation of directiveness, using ratings from transcripts of consultations and comparing these with counselor-reported and counselee-reported directiveness. Rated directiveness was defined as advice, expressed views about or selective reinforcement of counselees' behavior, thoughts, or emotions (advice, evaluation, and reinforcement). Analysis of 131 transcripts revealed a mean of 5.8 advice statements per consultation, 5.8 evaluative statements, and 1.7 reinforcing statements. When asked to describe their counseling style, none of the 11 counselors rated it as "not at all" directive. Half the counselees who faced a decision felt steered by the counselor. Items of rated directiveness showed satisfactory interrater reliability (kappa = .63). Factor analysis revealed that they formed one factor (eigenvalue 1.72). There were no associations either between counselor-reported, counselee-reported, and rated directiveness or between these measures and counselee anxiety and concern, satisfaction with information, or the meeting of counselees' expectations. Rated directiveness was the only measure to be associated with other process measures of the consultation, being associated with longer consultations, more blocks of speech, more social and emotional issues being raised, and fewer concerns being followed up. Advice was more likely to be given to counselees of lower socioeconomic status and to counselees judged by counselors to be highly concerned. Evaluative statements were more likely to be made by counselors who had received counseling training. These results show that genetic counseling was not characterized--by counselors, counselees, or a standardized rating scale--as uniformly nondirective.

Genetic Counseling

A developmental switch in lymphocyte homing receptor and endothelial vascular addressin expression regulates lymphocyte homing and permits CD4+ CD3- cells to colonize lymph nodes.

IN adult mice, the dominant adhesion molecules involved in homing to lymph nodes are L-selectin homing receptors on lymphocytes and the peripheral lymph node addressins on specialized high endothelial venules. Here we show that, from fetal life through the first 24 hr of life, the dominant adhesion molecules are the mucosal addressin MAdCAM-1 on lymph node high endothelial venules and its counterreceptor, the Peyer's patch homing receptor, integrin alpha 4 beta 7 on circulating cells. Before birth, 40-70% of peripheral blood leukocytes are L-selectin-positive, while only 1-2% expresses alpha 4 beta 7. However, the fetal lymph nodes preferentially attract alpha 4 beta 7-expressing cells, and this can be blocked by fetal administration of anti-MAdCAM-1 antibodies. During fetal and early neonatal life, when only MAdCAM-1 is expressed on high endothelial venules, an unusual subset of CD4 + CD3- cells, exclusively expressing alpha 4 beta 7 as homing receptors, enters the lymph nodes. Beginning 24 hr after birth a developmental switch occurs, and the peripheral node addressins are upregulated on high endothelial venules in peripheral and mesenteric lymph nodes. This switch in addressin expression facilitates tissue-selective lymphocyte migration and mediates a sequential entry of different cell populations into the lymph nodes.

Animals

Parents' responses to predictive genetic testing in their children: report of a single case study.

There is a widely held view among health professionals that predictive genetic testing of children for late onset diseases is not desirable clinical practice. Yet, little is known about the views of parents, or their responses, to predictive genetic testing in their children. Since such testing is being carried out in some genetic centres, the opportunity was taken to conduct a single case study of the parents of 2 and 4 year old sisters who were tested for the gene for familial adenomatous polyposis. Interviews before testing, after, and 15 months later showed a stable attitude, that parental responsibility included making decisions about such testing, and that the role of health professionals should be one of information giving rather than decision making. These parents had no regrets about having their children tested and reported no changes in their behaviour towards either the child who tested positively or the child who tested negatively. Using standardised scales, mood was found to be within the normal range both before and after testing in the mother and father. This case study is a first step towards systematic empirical studies determining the consequences of acquiescing to parents' requests for genetic testing in their children.

Adenomatous Polyposis Coli

Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant.

The two major intermediate filament proteins in glandular epithelia are keratin polypeptides 8 and 18 (K8/18). To evaluate the function and potential disease association of K18, we examined the effects of mutating a highly conserved arginine (arg89) of K18. Expression of K18 arg89-->his/cys and its normal K8 partner in cultured cells resulted in punctate staining as compared with the typical filaments obtained after expression of wild-type K8/18. Generation of transgenic mice expressing human K18 arg89-->cys resulted in marked disruption of liver and pancreas keratin filament networks. The most prominent histologic abnormalities were liver inflammation and necrosis that appeared at a young age in association with hepatocyte fragility and serum transaminase elevation. These effects were caused by the mutation since transgenic mice expressing wild-type human K18 showed a normal phenotype. A relative increase in the phosphorylation and glycosylation of detergent solubilized K8/18 was also noted in vitro and in transgenic animals that express mutant K18. Our results indicate that the highly conserved arg plays an important role in glandular keratin organization and tissue fragility as already described for epidermal keratins. Phosphorylation and glycosylation alterations in the arg mutant keratins may account for some of the potential changes in the cellular function of these proteins. Mice expressing mutant K18 provide a novel animal model for human chronic hepatitis, and for studying the tissue specific function(s) of K8/18.

3T3 Cells

Happy ever after.

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Data Collection