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Biomedical subjects

H Thornton

Publications and source records attributed to H Thornton.

At least 19 recordsLinked to original sources
PubMed2004

Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa.

BACKGROUND: Lipoid proteinosis (LiP) is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LiP. Since the early 1970s it has been recognized that South Africa has one of the largest groups of LiP patients worldwide, suggesting a probable founder effect. As LiP patients present with considerable clinical variability, this group of patients offers a unique opportunity for genotype-phenotype correlation. OBJECTIVES: To assess the clinical features and the molecular basis of LiP in patients from the Namaqualand area of the Northern Cape province of South Africa and to examine molecular evidence for a founder effect. SUBJECTS AND METHODS: The LiP patient cohort consisted of 29 Coloured patients from Namaqualand and a further seven Caucasoid patients from other areas of South Africa. The control group included 100 healthy geographically and ethnically matched individuals from Namaqualand. Samples were collected after informed consent and with ethics committee approval from the University of the Witwatersrand. LiP patients were examined clinically and a structured recording sheet was completed. A brief neurological evaluation was also performed. The LiP founder effect was investigated at the molecular level by ECM1 mutation detection and haplotype analysis. RESULTS: The most consistent clinical signs for a diagnosis of LiP in this group were a hoarse voice and thickened sublingual frenulum leading to restricted tongue movement. Homozygosity for a nonsense mutation in exon 7 of the ECM1 gene, Q276X, was identified in all patients (Coloured and Caucasoid). Despite this genetic homogeneity, considerable clinical variability in skin presentation and psychiatric involvement was observed. Haplotype analysis using markers from a 9.98-Mb region around the ECM1 locus confirmed the founder effect with a founder core haplotype, 19-Q276X-12 (ND1-ECM1-D1S2343), in all but four LiP-associated alleles (n = 58). A LiP carrier rate of 1 in 9 was observed among the 100 Namaqualand controls, predicting a LiP incidence of 1 in 324 in this community. CONCLUSIONS: Although several consistent clinical features in LiP patients homozygous for the Q276X mutation in the ECM1 gene were observed, there remains considerable clinical variability. This suggests the action of genetic and environmental modifiers of disease severity. Strong molecular evidence supports a single founder effect for the high prevalence of LiP in South Africans, both Coloured and Caucasoid.

Adolescent↗
PubMed2004

A survey of breast cancer patients' views on entry into several clinical studies.

During the course of their treatment and follow-up, women with breast cancer are likely to be asked to join a number of different clinical studies. Some local research ethics committees have expressed concerns about entry of individual patients into multiple research studies. A survey was undertaken to improve understanding of patients' own perceptions of participation in several clinical studies. A total of 96 patients who had previously undergone surgery for breast cancer from January to June 2000 were sent a questionnaire 6-12 months after completion of primary treatment. Eighty four per cent of questionnaires were returned of which 62% were from patients who had been approached to enter at least one clinical study. Sixty-four per cent of patients believed that there should not be a limit on the number of clinical studies offered to patients. Furthermore, three quarters of all patients would have considered entering more than one study if adequate explanation and written information were provided. Most patients felt that their participation in a clinical study was worthwhile and no patients surveyed regretted their decision to take part in a study. Almost two-thirds of patients who returned questionnaires believed there should not be a maximum number of studies offered to them. This survey suggests that the majority of patients are prepared to participate in more than one clinical study when adequate information and explanation are provided.

Breast Neoplasms↗
PubMed2001

Consumers and trials.

Explore the source record for details and available documents.

Clinical Trials as Topic↗
PubMed2001

Accuracy of prediction of walking for young stroke patients by use of the FIM.

BACKGROUND AND PURPOSE: Clinical prediction of walking outcome after a stroke is essential for effective discharge planning. However, its accuracy has hardly been explored. This study took place in a regional unit admitting patients with complex neurological disabilities for specialist inpatient rehabilitation. The aim was to compare predicted outcome (goal score) with achieved outcome (discharge score) on the seven-point locomotion subscale of the Functional Independence Measure (FIM), to evaluate its precision and identify factors influencing accuracy. METHOD: Admission, goal and discharge scores were analysed retrospectively for 141 subjects (90 M; 51 F) admitted consecutively to the Unit with median age 54 years (range 15-68 years) with median length of stay 13.6 weeks (range 3-35 weeks). RESULTS: Ninety subjects (64%) gained from two to six points; 50 subjects (35%) gained one point or showed no change. One patient deteriorated by two points. Excluding patients admitted with the highest score (FIM level 7), the overall level of agreement between predicted and discharge scores was moderate (weighted kappa 0.47). Prediction was accurate to +/- 1 point in 113 subjects (80%). Overprediction by > or = 2 points occurred in 16 subjects (11%) and underprediction by > or = 2 points in 12 subjects (9%). Analysis of the most-disabled cohort, admitted with FIM levels 1 or 2 scores, revealed a higher sensitivity for predicting 'independence' (FIM levels 5-7) (78%) than 'dependence' (FIM levels 1-4) (65%). Accuracy was not affected by age, gender or side of stroke. Inaccurate predictions were associated with lower admission FIM level scores (p = -0.26; p = 0.002) and a greater length of stay (p = 0.36; p < 0.001). Subjects with quadriplegia were more likely to have inaccurate outcome predictions made than those with hemiplegia (p = 0.025) and those with neglect were more likely to have inaccurate outcome predictions made than those without neglect (p = 0.017). CONCLUSION: Further investigation into clinical prediction and the variables which confound accuracy is needed for effective planning.

Adolescent↗
PubMed2001

Consumers' views of quality in the consultation and their relevance to 'shared decision-making' approaches.

BACKGROUND: There is a recognized need to assess the effects of shared decision-making and other communication interventions. However, the outcomes usually assessed for evidence of 'effectiveness' are determined by researchers and have not been based on consumers' views. AIM: This study aimed to identify the important outcomes of consultations for consumers, and to compare with those reported in the current literature. SETTING AND PARTICIPANTS: Forty-seven participants attending six focus group interviews. Most interviews took place in and all were orientated towards the UK primary care setting. METHODS: Focus group study. RESULTS: Many affective outcomes were identified, consistent with the current literature trends. However, many cognitive and behavioural outcomes that are assessed in the current literature were not noted by participants as important. Furthermore, a broader range of outcomes than is evident in the current literature was viewed as important to these participants. CONCLUSIONS: There is a need to revisit the outcomes which are assessed in decision-making and communication research. The outcomes of greatest importance to consumers must be identified and confirmed by new research which is based directly on the views of consumers themselves.

Consumer Behavior↗
PubMed2001

Information and involvement.

This article discusses the beliefs that provision of good quality information is the key to (a) successful and satisfying involvement of patients in their own decision-making and (b) involvement of lay people in the research process, in debate and other involvement in wider health issues. Education of children, health professionals, the public and the media is advocated, enabling critical appraisal skills and good quality health information to lead to improved involvement of citizens in health-care decisions of all kinds, both individual and societal. Examples of individual, group and specific group involvement through research projects, debates about screening, Citizens' Juries, etc. are used to illustrate benefits to patients and to health provision in general.

Breast Neoplasms↗
PubMed2000

The effects of atropine and adrenergic antagonists on behavioral arousal in rats.

Two experiments investigated the mechanism for changes in measures of behavioral arousal inhibition in rats following administration of atropine. In Experiment 1, 40-day-old rats were given administrations of atropine sulfate, the alpha-, beta-adrenergic blocker labetalol, or both. The drugs, either alone or in combination, increased transport response intensity, whereas both together increased dorsal immobility durations. In Experiment 2, rats were given atropine, the beta-adrenergic antagonist propranolol, the alpha-adrenergic antagonist phentolamine, or a combination of two of the drugs. Propranolol blocked atropine-induced increases in transport response, and phentolamine was without effect. Phentolamine, when combined with atropine, increased dorsal immobility durations. Results are discussed with respect to aspects common to both transport response and dorsal immobility.

Adrenergic alpha-Antagonists↗
PubMed2000

Can young severely disabled stroke patients regain the ability to walk independently more than three months post stroke?

OBJECTIVE: To investigate the acquisition of ability to walk independently in young severely disabled stroke patients unable to walk three months after onset. SETTING: A regional rehabilitation unit providing post-acute neurorehabilitation mainly for patients aged 16-65 years. SUBJECTS AND METHODS: A retrospective analysis of records was undertaken for 152 stroke patients admitted consecutively over a three-year period. All had a combination of physical, cognitive and language impairments; male/female 98/54; median age 54 (IQR 47-60) years. MAIN OUTCOME MEASURES: Time taken from stroke onset to regain the ability to walk safely and independently at least 5 metres around the hospital bay. RESULTS: Seventy-five (49%) regained the ability to walk independently between 3 and 11 months post onset. Patients with cognitive impairments and neglect took longer to walk. Time from stroke onset to admission was longer in patients who did not walk (median 16.3 weeks), than in those who regained walking (median 12.7 weeks; p = 0.009). Independent positive associations were found between the time taken to walk and time from onset to referral for rehabilitation (p = 0.55; p < 0.001), and time from acceptance to admission (p = 0.30; p = 0.008). CONCLUSION: With intensive specialist input, significant numbers of severely disabled young stroke patients can regain independent walking many months after onset, though late walkers may follow a slower recovery course. These results argue for investment in appropriate rehabilitation for these patients. Waiting list delays may prolong rehabilitation and potentially compromise cost effectiveness.

Activities of Daily Living↗