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Biomedical subjects

A Clarke

Publications and source records attributed to A Clarke.

At least 127 records · Page 7Linked to original sources
PubMed1997

Benefits and drawbacks of hospital-at-home schemes.

Hospital-at-home schemes provide intensive levels of care to actually ill people in their own homes. Such schemes may give care as an alternative to hospital admission or as an aid to early discharge. Benefits for the patient may include the reduced stress of being in familiar surroundings and the removal of travelling costs. Benefits to the health system may include shorter waiting-lists and a reduction in the length of patient hospitalisation.

Adult↗
PubMed1997

Genetics and Rett syndrome.

Rett syndrome is a disease of neurological development. First reported 30 years ago in 1966, its biological and genetic basis remain obscure. It is commonly thought of as an X-linked dominant disorder lethal to hemizygous males. This paper presents the latest genetic findings reported at the Pre-congress Genetic Seminar.

Female↗
PubMed1996

Skew deviation of the eyes in normal human subjects induced by semicircular canal stimulation.

Computerised video-oculography and scleral search coils were used to record the horizontal, vertical and torsional binocular eye movements of human subjects exposed to roll oscillation at 0.4 Hz about earth-horizontal and earth-vertical naso-occipital axes in darkness. The stimuli provoked a dominant torsional ('ocular counter-rolling') response with a ratio of peak slow phase eye velocity to stimulus velocity which was not significantly different for earth-horizontal (0.39, SD 0.08) or earth-vertical axis orientations (0.40, SD 0.08). For all conditions the responses also had a head-vertical component which was disconjugate ('skew deviation'). The cumulative, vertical, slow phase divergence was 5.8 degrees, SD 1.3 degrees, about upright and 4.3 degrees, SD 0.6 degrees, when supine. This is the first demonstration that dynamic roll stimuli provoke a skew deviation in normal human subjects. At the frequency tested, the skew was driven by vertical semicircular canal stimulation.

Adult↗
PubMed1996

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200-kilobase intron, encode a predicted 135-residue transmembrane protein. The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations. The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling.

Adult↗
PubMed1996

Yeast SAS silencing genes and human genes associated with AML and HIV-1 Tat interactions are homologous with acetyltransferases.

Silencing is an epigenetic form of transcriptional regulation whereby genes are heritably, but not necessarily permanently, inactivated. We have identified the Saccharomyces cerevisiae genes SAS2 and SAS3 through a screen for enhancers of sir1 epigenetic silencing defects. SAS2, SAS3 and a Schizosaccharomyces pombe homologue are closely related to several human genes, including one associated with acute myeloid leukaemia arising from the recurrent translocation t(8;16)(p11;p13) and one implicated in HIV-1 Tat interactions. All of these genes encode proteins with an atypical zinc finger and well-conserved similarities to acetyltransferases. Sequence similarities and yeast mutant phenotypes suggest that SAS-like genes function in transcriptional regulation and cell-cycle exit and reveal novel connections between transcriptional silencing and human disease.

Acetyltransferases↗
PubMed1996

Invasive intestinal spirochetosis: a report of three cases.

We here report on three patients with gastrointestinal symptoms in whom spirochetes were found in colonic biopsies. The patients, heterosexual adults, were not immunocompromised. Electron microscopy was performed on colonic biopsies from each of the three patients. Apart from the basophilic band consisting of spirochetes, the mucosa was normal in two patients on light microscopy and showed mild inflammation in the other one. However on electron microscopy there was invasion of the colonic epithelial cells, macrophages, goblet cells and Schwann cells by spirochetes, and stunting of the microvilli. The spirochetes conformed to the morphology of Brachyspira aalborgi, and no other infective etiology or pathology could be identified in these patients to account for their symptoms. Since the clinical significance of intestinal spirochetosis is uncertain, antibiotics were not administered to any of the three patients and all three improved symptomatically with non-specific treatment. Intestinal spirochetosis, previously thought to be non-invasive and non-pathogenic in humans, may be invasive and may be the cause of gastrointestinal symptoms in some patients.

Adult↗
PubMed1996

Outcomes and process in genetic counselling.

Although it may be simple to evaluate some elements of clinical genetics, it is difficult to evaluate genetic counselling. We review previous studies of the outcomes of genetic counselling; although the methods used may be valid in research studies, there are practical and ethical difficulties in applying them to the measurement of clinical effectiveness in standard practice. No simple measures of outcomes would be suitable. Research evidence will be helpful in deciding what services it is appropriate to offer, and the quality of a service can then be assured by assessing the quality of the clinical process in three ways: 1) adherence to agreed protocols and standards of care; 2) peer review and audit of clinical activity; and 3) ongoing review of the satisfaction of clients and referring physicians with the service. The assessment of client satisfaction will need to be a sophisticated form of retrospective satisfaction with the service provided, and such a scheme has yet to be fully developed.

Attitude of Health Personnel↗
PubMed1996

Cranial computed tomographic findings in tuberous sclerosis are not affected by sex.

Males with the tuberous sclerosis complex (TSC) have been shown to be more at risk of learning disorder than females. A retrospective population based study was undertaken to see if males with TSC have more cerebral lesions than females. 47 of 131 individuals with TSC identified in a prevalence study had a cranial CT scan available for review. No significant difference between the sexes was found in the number of subependymal nodules or the number, site or size of parenchymal lesions. However, males with five or fewer parenchymal lesions were at greater risk of learning disorder than females. The increased risk of learning disorder in males with tuberous sclerosis is not accounted for by an increase in number, site or size of cranial lesions as seen on CT scans. Therefore there must be an alternative mechanism to account for this difference between the sexes.

Adult↗
PubMed1996

Educational and environmental interventions for cardiovascular health promotion in socially disadvantaged primary schools.

School-based cardiovascular risk-reduction programs have the potential to influence lifelong habits intrinsic to good health. Following earlier Australian Body owner's Manual (BOM) intervention trials, we examined the effects of two interventions on physiological indicators of risk of cardiovascular disease and on health knowledge: the BOM; and the BOM plus healthy life style programs for teachers and school-canteen interventions (BOM+) over two school years in socially disadvantaged primary schools. Each school was allocated to either a control condition or to one of two intervention conditions. In contrast to the findings of the earlier South Australian trials, there were no statistically-significant changes in aerobic fitness, body fatness or HDL cholesterol; there were significant reductions in diastolic blood pressure, total cholesterol and triglyceride concentration for those in the BOM+ schools. There were significant increases in health and nutrition knowledge for the BOM+ schools, and in health knowledge for the BOM schools.

Analysis of Variance↗
PubMed1996

Does a shorter length of hospital stay affect the outcome and costs of hysterectomy in southern England?

STUDY OBJECTIVE: To see whether a shorter postoperative length of stay (LOS) for a major procedure, abdominal hysterectomy for benign conditions, was associated with health outcome, the use of formal and lay care after discharge, cost, and satisfaction. DESIGN: Prospective cohort study. SETTING: Three hospitals in London and three in Hertfordshire and Bedfordshire. PATIENTS: A total of 363 women undergoing total abdominal hysterectomy with or without oophorectomy: 112 with a short postoperative LOS (five days or less) and 251 with a standard LOS (six days or more). MAIN OUTCOME MEASURES: Wound infection within 10 days and six weeks; change in general health status (Nottingham health profile) after six weeks; general health and change in social activity (lifestyle index) three months after surgery. Mean cost difference for hospitals, use of formal and lay care after discharge, and patient satisfaction. RESULTS: Short LOS was associated with benefits: a lower risk of wound infection in the first 10 days (odds ratio 0.44; p = 0.03) and no deterioration in physical mobility (measured using the NHP) after six weeks- and with adverse outcomes: constipation six weeks later (OR 0.48; p < 0.001) and moderate or severe urinary symptoms six weeks (OR 0.69; p < 0.004) and three months (OR 0.65; p < 0.008) later. On multivariate analysis, the only outcome to remain significantly associated with LOS was physical mobility after six weeks (p = 0.024). There was no significant difference between short and standard stay women as regards their use of formal or lay care after discharge from hospital. The mean cost of hospital care was Pounds251 (in 1992) less for short than for standard stay patients. Most women (73% at six weeks) felt their LOS was appropriate. Short stay women were more likely to feel it was too short, though the difference was not statistically significant. CONCLUSIONS: Short postoperative stays do not seem to be associated with any adverse outcomes and result in modest financial saving to the health service. There is potential for greater use of early discharge.

Adult↗
PubMed1996

Rett syndrome.

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Female↗
PubMed1996

The cutaneous features of tuberous sclerosis: a population study.

We report the cross-sectional age-related prevalence of cutaneous features of the tuberous sclerosis complex in a defined population. Of 131 affected individuals, 126 (96%) exhibited skin signs. Although there is considerable variation in the age of expression of all the skin lesions, there is a trend towards the earlier expression of hypomelanic macules and forehead fibrous plaques compared with facial angiofibromas and ungual fibromas. Shagreen patches are usually present by puberty. Ungual fibromas appeared for the first time as late as the fifth decade and were the only clinical feature in three individuals. Gum fibromas were present in 36%. Ten individuals (8%) presented because of the skin manifestations and 21% received treatment for symptomatic skin lesions. Two individuals had large hamartomas at unusual sites (occiput and forearm).

Adolescent↗
PubMed1996

Remembering.

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Humans↗