Biomedical subjects
Publications and source records attributed to A Clarke.
The focus group interview allows researchers to obtain data about participants' feelings and opinions on a particular topic. Careful consideration must be given to the size of the group, the participants' backgrounds, the venue and the choice of moderator. It is not always appropriate to generalise the findings of focus group interviews on to a larger population.
Qualitative data usually consist of the words or actions of participants. These data can be difficult to condense and organise without losing their meaning. Analysis of qualitative data requires considerable creativity on the part of the researcher.
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that is typically associated with progressive neurological deterioration. We describe a 12-year-old girl with SWS who suffered a permanent cerebral insult as the result of a period of protracted status epilepticus. The case illustrates the unique susceptibility of patients with SWS to uncontrolled venous hypertension and emphasises the need for optimal seizure control and preservation of venous outflow. We discuss the relevance of our observations to haemodynamic concepts of neurological decline in SWS.
UNLABELLED: In order to determine the extent of vancomycin resistant enterococcus (VRE) colonisation within a paediatric oncology unit, the risk factors for the acquisition of the organism, the molecular epidemiology of the isolates and the impact of infection control measures, extensive patient and environmental surveillance was undertaken with identification, antibiotic susceptibility testing and pulsed-field gel electrophoresis (PFGE) of all VRE isolates. A matched case control study was carried out. Fourteen patients (19% of screened patients) with VRE colonisation were identified (12 with Enterococcus faecium). All isolates manifested the Van A phenotype. Extensive environmental contamination with VRE was present. PFGE of E. faecium isolates from 10 patients and from five of six environmental cultures revealed patterns suggesting genetic relatedness. Following comparison of the 14 cases with 41 controls matched for age (+/- 4 years) and cohabitation on the oncology unit, risk factors for colonisation with VRE included duration of neutropenia, (OR, 3.72; 95% CI, 1.0-13.1), and antibiotic therapy, (OR, 4.07; 95% CI, 1.08-15.3), the number of antibiotic agents received, (OR, 8.4; 95% CI, 1.34-34.3) and the duration of therapy with amikacin, (OR, 10.7; 95% CI, 1.4-81.5), ceftazidime, (OR, 11.5; 95% CI, 2.2 59.9) or teicoplanin, (OR, 12.3; 95% CI, 2.25-67.4). Implementation of stringent infection control measures reduced environmental contamination from 25% of samples in week 1 to none in week 11. Two additional colonised patients were identified during the subsequent 6 months. CONCLUSION: Risk factors for VRE colonization in paediatric oncology patients included duration of neutropenia, duration of any antibiotic therapy, exposure to ceftazidime, amikacin or teicoplanin and the number of antibiotics used. The study suggests that environmental contamination played an important role in patient-to-patient transmission of VRE and interventions including implementation of infection control measures were associated with a decreased incidence of gastro-intestinal colonisation.
BACKGROUND: With the prevalence of antibiotic use, the diagnosis and management of Clostridium difficile disease requires assessment. METHODS: In a retrospective review, patients with a positive culture, toxin, or both during 1 year were identified. Recent literature was reviewed. Results of culture and toxin, prior antibiotic use, antibiotic treatment history and cost were analyzed. RESULTS: Of 592 patients tested, 101 were positive; 96 of 101 were available for review. Of those positive tested for both, 45% were positive for toxin and culture. Sixty-two of 96 were treated with antibiotics; metronidazole was used in 90%. Ten of 62 antibiotic treatments were changed (mean 3 days). Ten days of metronidazole is 1/200th the cost of vancomycin. CONCLUSIONS: In 55% of the positive cases in which culture and toxin were obtained, one test was negative. As metronidazole's efficacy and cost compares favorably with vancomycin, metronidazole is the drug of choice. Any changes made to antibiotic regimens occurred prior to the 6 days recommended in the literature.
This study found CD4+ T cells present in leucocyte populations isolated from the lamina propria of the pig to be almost exclusively CD45RC-, consistent with their being highly differentiated by exposure to antigen. Following activation in vitro these cells up-regulated expression of IL-2R with similar kinetics to splenic CD4+ cells. However, while splenic cells progressively secreted IL-2 into cultures during the first 24 h, IL-2 was not detected in supernatants of lamina propria cells after 8 h. Reverse-transcriptase polymerase chain reaction (RT-PCR) confirmed that this reflected a transcriptional difference: IL-2 transcripts were detected in cultures of splenic and lamina propria cells in the first few hours after activation but persisted only in splenic cells. In contrast, IL-4 transcripts were strongly expressed by activated lamina propria cells. Cell-cycle analysis demonstrated that fewer lamina propria CD4+ cells progressed into S-phase than did splenic CD4+ cells (26.0 11.1% and 45.0 11.3% respectively, P=0.011). Our results suggest that CD4+ T cells in these populations are differentiated effector cells whose potential for expansion may be dependent upon local factors. Such cells may be targets for immunoregulation by their local microenvironment.
A series of spontaneous abortions collected in the South Wales region over a period of 18 months was karyotyped to identify those with a normal chromosome complement. Microsatellite polymorphisms distributed throughout all autosomes were typed by the polymerase chain reaction to determine the parental origin of each autosome pair in karyotypically normal spontaneous abortions. In 35 cases biparental inheritance of every autosome pair was demonstrated. The sex ratio of the normal spontaneous abortions of proven biparental origin was 0.77, but this was not significantly different from 1.00.
OBJECTIVE: To develop and evaluate the acceptability, reliability and validity of a short, patient-based questionnaire for assessing the outcomes of surgical treatment for menorrhagia due to benign disease. DESIGN: A psychometric study by postal survey. SETTING: Five hospitals in southeast England. SAMPLE: One hundred and eleven women undergoing hysterectomy for menorrhagia due to benign disease. METHODS: Data from a long research questionnaire used in the North West Thames Hysterectomy Study were analysed using standard psychometric methods to identify the subset of items which were the most scientifically sound indicators of outcome. The Menorrhagia Outcomes questionnaire is a 26-item questionnaire which covers symptoms, post-operative complications, quality of life, and women's satisfaction with outcome. The questionnaire was field tested for acceptability, reliability and validity by postal survey. RESULTS: The Menorrhagia Outcomes Questionnaire was found to be highly acceptable to women and showed excellent internal consistency, test-retest reliability, criterion and construct validity. CONCLUSION: The Menorrhagia Outcomes Questionnaire is a practical and scientifically sound measure of outcome from the woman's perspective following surgical treatment for menorrhagia due to benign disease. It takes less than five minutes to complete, is appropriate for use with different surgical treatments for menorrhagia (eg. hysterectomy, endometrial resection, laser ablation) and is feasible for routine monitoring of large numbers of women by postal survey. Most importantly, this questionnaire has been shown to perform well from a scientific point view, having met standard psychometric criteria for reliability and validity.
A whole X chromosome study of families in which Rett syndrome had been diagnosed in more than one member indicated that the region between Xq27 and Xqter was the most likely region to harbour a gene which may be involved in the aetiology of the disease. Further, more detailed studies of Xq28 detected weak linkage and a higher than expected sharing of maternally inherited alleles. It is suggested that there may be more than one gene involved in the aetiology of this syndrome, particularly as the very rare families in which more than one girl is affected often show variable clinical symptoms.
Indirect molecular diagnosis of X linked hypohidrotic ectodermal dysplasia (XLHED), a congenital disorder of hair, teeth, and eccrine sweat glands, has been possible by linkage analysis. Direct mutation detection would enable carrier detection in female relatives of sporadic cases, as well as help distinguish XLHED from the rarer, clinically indistinguishable, autosomal recessive disorder ARHED. Recently, a candidate gene for XLHED has been identified. Genomic DNA from 162 affected males and 21 females, who were either obligate carriers or had manifestations of the disorder, were screened by SSCP analysis. A subset of the patients had been previously screened for large genomic deletions and had limited screening of a single exon by SSCP analysis. The two known exons were amplified using flanking primers. Approximately 7% of patients, all males, had putative mutations identified within exon 1, but no variants were found within exon 2. Ten different putative mutations and four probable polymorphisms were identified. Both of the known exons were sequenced in 10 patients who had no detectable SSCP changes, but no additional mutations were found. No correlation between phenotype and genotype was evident between either affected subjects or subjects with or without detectable mutations. The results of the study indicate that only a small minority of affected males can be diagnosed by direct mutation analysis, and that the remainder of the patients are likely to have mutations in as yet unidentified exons of the EDA gene. Linkage analysis, in informative situations, therefore remains the only practical diagnostic option available.
Rett syndrome (RS) is a disease of neurological development. First reported 30 years ago in 1966, its biological and genetic basis remains obscure. RS is commonly thought of as an X linked dominant disorder lethal to hemizygous males. The few familial cases would arise through mosaicism or because of occasional females failing to manifest the disorder through skewed X inactivation in relevant cell types. We have one family where the mother and daughter are affected with RS, and which can be explained according to this hypothesis. If the alternative proposal of Thomas (1996) is correct, that the lack of males affected by such disorders is the result of a high male to female ratio of germline mutations rather than of gestational lethality, then the RS gene should be located on the grandpaternal chromosome. Genomic screening with markers covering the whole X chromosome has been performed. Studies using multiple informative markers indicate that the RS locus is likely to be located close to one of the X chromosome telomeres. Further investigations in eight additional families suggest the most likely region for the RS gene to be is the distal part of Xq (Xq28).
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BACKGROUND AND OBJECTIVES: Autoimmune hemolytic anemiA (AIHA) is rarely caused by IgM warm autoantibodies, and is sometimes difficult to diagnose. We describe three patients with severe AIHA caused by IgM warm autoantibodies; in two of the three, the hemolysis was fatal. MATERIALS AND METHODS: Conventional hematologic and serologic procedures were used. RESULTS: The IgM autoantibodies in all three cases were directed against determinants on or associated with glycophorin A (Ena, Wrb, and Pr). The IgM autoantibodies and unusual serological characteristics, in that the agglutinins were detected or greatly enhanced only by the presence of albumin or a low pH, and/or the agglutinins reacted optimally at 20-30 degrees C. CONCLUSIONS: IgM warm autoantibodies directed at determinants on or associated with glycophorin A appear to cause severe (often fatal) hemolytic anemia.
Population carrier screening for cystic fibrosis (CF) was offered to all patients aged 16-45 in one general practice in South Wales, excluding those in couples with a current pregnancy. Out of 1553 patients in this group, 481 subjects were tested, giving an overall uptake rate of more than 30%. The rate of uptake varied with the mode of invitation. Twenty-six carriers were identified, giving a prevalence of identified carriers of 5.4% (1 in 18.5) for those with no family history of CF. A further 18 carriers were identified by cascade testing of these 26. We describe the practical difficulties encountered in setting up this programme in primary care in South Wales. Questionnaires were administered or distributed to all subjects before and after testing. The response rate for the pre-test questionnaire was 95%, and 40-50% for the post-test questionnaires. These showed that, at 3 months post-test, 1 in 4 screen-negative subjects did not appreciate that they had a residual risk of being a carrier. At the same time, 15% of this group thought that there was a 1 in 4 chance of a child being affected if one parent was screen-positive (carried an identified mutation) and the other was screen-negative, and 40% thought there was no risk. Anxiety in relation to testing did not appear to be a major problem, although individual patterns of response to carrier status varied widely and more sensitive indicators of psychosocial impact of genetic tests are required. A pilot study of couple screening showed that this approach is unlikely to be useful in primary care, although we did not assess couple testing during pregnancy. For any programme of CF carrier screening to be established in primary care, it will be necessary to involve the primary care team from the earliest planning stage, so that the opportunity costs, training needs and other costs of the programme can be fully resourced.
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The primary challenge in the role of an information system specialist is to combine clinical expertise with knowledge of current computer technology. Health care data must be collected, stored, and accessed in the most efficient manner possible to meet the variety of information management needs found in a health care setting (ie, patient care, research, and financial requirements.