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Biomedical subjects

A L Evans

Publications and source records attributed to A L Evans.

At least 37 records · Page 2Linked to original sources
PubMed1999

A gene for lymphedema-distichiasis maps to 16q24.3.

Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have distichiasis-fine hairs arising inappropriately from the eyelid meibomian glands-which is evident from birth. A study of three families with LD has shown linkage to chromosome 16q24.3, and subsequent analysis of the region for recombinant genes places the locus between D16S422 and D16S3074, a distance of approximately 16 cM. Possible candidate genes in this interval include the N-proteinase for type 3 collagen, PCOLN3; the metalloprotease PRSM1; and the cell matrix-adhesion regulator, CMAR.

Chromosomes, Human, Pair 16↗
PubMed1999

Cutaneomuscular reflex responses recorded from the lower limb in children and adolescents with cerebral palsy.

Cutaneomuscular reflex (CMR) responses were recorded from lower-limb and trunk muscles in 27 subjects with cerebral palsy (CP) (spastic, 21; athetoid, six) and in neurologically healthy (control) subjects, aged 3 to 15 years, while standing. In the 21 subjects with spastic CP, but not in the six subjects with athetoid CP, CMR responses were more widely distributed between ipsilateral lower-limb and trunk muscles compared with age-matched control children. CMR responses in older subjects with CP were similar to younger control subjects, lacking supraspinally mediated, long-latency components. Short-latency, spinally-mediated, excitatory CMR components were seen simultaneously in pairs of distal, antagonistic lower-limb muscles in half of the subjects with spastic CP, but in none of the control children. In subjects with spastic-type CP, the abnormal reflex responses indicate disordered spinal and supraspinal inputs to motor neurones, although there was no convincing correlation between these responses and the severity of spasticity.

Adolescent↗
PubMed1999

Does abnormal branching of inputs to motor neurones explain abnormal muscle cocontraction in cerebral palsy?

The common synaptic drive shared between two groups of motor neurones synchronizes the timing of discharges between the motor-neurone groups. Recordings were made of motor-unit discharges during cocontraction of ipsilateral pairs of thumb muscles in eight subjects with cerebral palsy (CP) aged 4 to 13 years and eight neurologically healthy subjects aged 4 to 12 years, and in pairs of lower-limb muscles in 21 subjects with CP and 21 control subjects, both aged 3 to 15 years. Common synaptic drive, likely to be derived at least partly from activity in branched corticospinal-tract neurones, produced motor-unit synchronization between pairs of thumb muscles in control subjects but was absent in all subjects with CP. Motor unit synchronization was not found between lower-limb antagonist muscles that cocontract abnormally in CP, nor was synchronization present in more widely separated muscle pairs. Therefore, abnormal patterns of muscle activation and more widespread muscle reflex responses do not result from an abnormal distribution of common synaptic drive in CP.

Adolescent↗
PubMed1998

Comparison of expression patterns for placenta growth factor, vascular endothelial growth factor (VEGF), VEGF-B and VEGF-C in the human placenta throughout gestation.

Angiogenesis and vascular transformation are important processes in the normal development of the placenta. Vascular endothelial growth factor (VEGF) is a potent angiogenic growth factor and is thought to be important for placental development. Recently several new members of this family have been described. In this study we used in situ hybridisation to localise which cells in the placenta expressed mRNA for VEGF, placenta growth factor (PlGF), VEGF-B and VEGF-C. We were unable to find any message for either VEGF-B or VEGF-C in the placenta, suggesting that only low levels are produced which this method was unable to detect. The mRNA encoding VEGF was found to be produced by cells within the villous mesenchyme, decidual macrophages and decidual glands but, in contrast to our previous findings, not by trophoblast. The mRNA encoding PlGF was produced in large amounts by villous cytotrophoblast, syncytiotrophoblast and extravillous trophoblast. The mRNAs encoding VEGF and PlGF were thus not co-localised and it appears that there is unlikely to be any significant production of VEGF/PlGF heterodimer in the placenta.

Blotting, Northern↗
PubMed1997

Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats.

Coronary heart disease, hypertension, non-insulin-dependent diabetes and obesity are major causes of ill health in industrial societies. Disturbances of carbohydrate and lipid metabolism are a common feature of these disorders. The bases for these disturbances and their roles in disease pathogenesis are poorly understood. The spontaneously hypertensive rat (SHR), a widely used animal model of essential hypertension, has a global defect in insulin action on glucose metabolism and shows reduced catecholamine action on lipolysis in fat cells. In our study we used cellular defects in carbohydrate and lipid metabolism to dissect the genetics of defective insulin and catecholamine action in the SHR strain. In a genome screen for loci linked to insulin and catecholamine action, we identified two quantitative trait loci (QTLs) for defective insulin action, on chromosome 4 and 12. We found that the major (and perhaps only) genetic determinant of defective control of lipolysis in SHR maps to the same region of chromosome 4. These linkage results were ascertained in at least two independent crosses. As the SHR strain manifests many of the defining features of human metabolic Syndrome X, in which hypertension associates with insulin resistance, dyslipidaemia and abdominal obesity, the identification of genes for defective insulin and catecholamine action in SHR may facilitate gene identification in this syndrome and in related human conditions, such as type-2 diabetes and familial combined hyperlipidaemia.

Animals↗
PubMed1997

Leptin receptor gene variation and obesity: lack of association in a white British male population.

Leptin, a hormone secreted by adipocytes, plays a pivotal role in the control of body weight. Rodents with mutations in the leptin receptor gene develop morbid obesity. It is possible, therefore, that leptin receptor gene mutations contribute to human obesity. To test this possibility, we determined the entire coding sequence of the human leptin receptor cDNA from peripheral blood lymphocytes of 22 morbidly obese patients with body-mass index (BMI) between 35.1 and 60.9 kg/m2. We identified five common DNA sequence variants distributed throughout the coding sequence at codons 109, 223, 343, 656 and 1019, one rare silent mutation at codon 986 and one novel alternatively spliced form of transcript. None of the five common variants, including the three that predict amino acid changes, are null mutations causing morbid obesity, because homozygotes for the variant sequences were also found in lean subjects. Furthermore, the frequency of each variant allele and the distribution of genotypes and haplotypes were similar in 190 obese (BMI >28 kg/m2) and 132 lean (BMI <22 kg/m2) white British males selected from a population-based epidemiological survey. In these subjects, there was no evidence for a significant effect of the common variants on obesity or obesity-related phenotypes. These results suggest that mutations in the leptin receptor gene are not a common cause of human obesity.

Adult↗
PubMed1997

Expression and localization of the vascular endothelial growth factor family in ovarian epithelial tumors.

Vascular endothelial growth factor (VEGF) is an angiogenic factor secreted by various tumors, including epithelial tumors of the ovary, and is involved in tumor progression and maintenance. The significance and function of other members of the VEGF family in the ovary has not yet been elucidated. In the present study, we have defined the expression of mRNA encoding VEGF-B, VEGF-C, and placenta growth factor (PIGF), compared with that of VEGF mRNA, in normal ovary and a range of ovarian epithelial tumors. Analysis by reverse transcription-PCR indicated that mRNA encoding VEGF (isoforms 121 and 165), VEGF-B (isoforms 167 and 186), and VEGF-C, but not PIGF, were present in all ovarian tissues examined. By in situ hybridization, neither VEGF-C nor PIGF transcripts were detected in any of the samples. The expression pattern of VEGF-B mRNA was generally similar to that of VEGF mRNA, in that transcripts were readily detected in the epithelial cells of all histologic types of ovarian carcinoma, but could not be detected in normal or benign tumor epithelium. Specific differences in the expression of the two genes were noted in areas of tumor necrosis, in which the expression of VEGF mRNA, but not VEGF-B mRNA, was further enhanced, and in a sample in which VEGF-B mRNA was strongly expressed in tumor-associated macrophages that did not hybridize with the riboprobe to VEGF mRNA. These results imply that a second member of the VEGF family, VEGF-B, may play a significant role in the angiogenesis, progression, and maintenance of ovarian carcinomas.

Adult↗
PubMed1996

Objective detection of hemifield and quadrantic field defects by visual evoked cortical potentials.

AIMS/BACKGROUND: An objective method for detecting hemifield and quadrantic visual field defects has been developed using steady state visual evoked cortical potentials (VECPs), an adaptive noise canceller (ANC), and Hotelling's t2 statistic. The purpose of this study was to determine the sensitivity and specificity of the technique. METHODS: Nine subjects (mean age 44 years) were investigated with field loss due to a variety of causes including both anterior and posterior visual pathway lesions. Dynamic perimetry was performed by means of a Goldmann or Tübingen perimeter. VECP recordings were made from each visual field quadrant (23 degrees X 23 degrees) by means of a steady state reversing checkerboard (7.7 rev/s). The central 5 degrees of the visual field and the vertical and horizontal meridians were masked during these measurements. Recordings were made from three electrode sites, positioned over the visual cortex, relative to a mid frontal electrode. Each recording lasted 2 minutes, during which time fixation was monitored. The data from each recording were divided into 4 second segments, and the amplitude and phase of the VECP signal measured using the ANC. Hotelling's t2 statistic was applied to determine the probability of signal detection. Receiver operating characteristic curves were used to find the optimum signal detection threshold for identification of the visual field defects. RESULTS: The results of the study confirmed patterns of subjective visual field loss. The technique had a sensitivity and a specificity of 81% and 85%, respectively, for detecting 'non-seeing' areas in the inferior visual field, and 82% and 89%, respectively, for detecting 'non-seeing' areas in the superior visual field. CONCLUSION: These results demonstrate that the technique is of potential clinical value to ophthalmologists and neurologists when subjective perimetry is not possible.

Adolescent↗
PubMed1996

Functional imaging of the retina using the multifocal electroretinograph: a control study.

BACKGROUND: A new technique exists that enables functional mapping of the retina. A control population was examined to obtain normative values and to assess the reproducibility of this new test. METHODS: Twenty healthy volunteers were tested using a 61 hexagonal array stimulus with a 14 minute recording period. Median 5th and 95th percentiles were determined for implicit times and amplitude measures for the 61 test areas. Repeat measurements were performed on 10 individuals. Wilcoxon and Bland and Altman techniques were used to quantify reproducibility of the test. RESULTS: The implicit time of the wave-form components was not found to vary over the retina (peak or b-wave component, 35.52 (1.4) ms; trough or a-wave component, 17.76 (0.8) ms). Reproducibility was found to decrease with eccentricity (coefficient of repeatability 17.4% for the central area increasing to 30.3% for the peripheral ring). CONCLUSIONS: The findings suggest that reproducibility, although variable with eccentricity, is comparable with conventional electrophysiology. These limits of variation were used to assign confidence intervals to individual retinal areas and will be used (future work) in the examination of diseased states.

Adolescent↗
PubMed1995

Gait speed and activities of daily living function in geriatric patients.

OBJECTIVE: To establish the relationship between gait speed (GS) and functional independence in elderly people. DESIGN: GS is suggested as being a criterion standard in rehabilitation reflecting muscle strength. This study assessed the relationship between gait speed and functional independence in Activities of Daily Living (ADL). GS was measured by portable accelerometer over 2 meters. The mean of 3 attempts was taken. ADL function was measured by an occupational therapist using the modified Barthel ADL Index. The relationship between these measures was assessed by a statistician. SETTING: A geriatric unit in a hospital in Scotland. PATIENTS: One hundred sixty-one inpatients and outpatients were selected at random from the patients of a geriatric unit over a 3-month period. Patients were eligible if they were mobile with or without a walking aid. INTERVENTIONS: GS was measured by portable ultrasonic accelerometer. Patients were reviewed by an occupational therapist, blinded to their GS, who recorded functional capacity. Case sheet review provided diagnostic details and cognitive function. The type of floor surface was recorded. MAIN OUTCOME MEASURES: GS (m/sec), and Barthel score. RESULTS: Patients with GS of < .25m/sec were more likely to be dependent in one or more ADL function, p < .01. Those with a GS between .35 and .55m/sec were more likely to be independent in all ADL functions, p < .001. Patients whose GS was > .55m/sec did not maintain this independence. There was no relationship between GS and floor surface or cognitive function. CONCLUSIONS: GS is a useful indicator of ADL function in geriatric patients.

Activities of Daily Living↗
PubMed1994

A personal computer-based visual evoked potential stimulus and recording system.

A system for recording electroretinograms and visual evoked cortical potentials has been constructed with the use of a personal computer and a digital signal processing card. The system is based on widely available commercial hardware. It has been designed to be capable of performing routine visual electrophysiology as well as allowing the development of novel visual stimuli and signal detection techniques. The system enables both transient and steady-state stimulation rates. Pattern stimuli can be presented in pattern-reversal, pattern-onset, pattern-offset or motion-onset modes. In addition to conventional signal averaging, the digital signal processing card can also provide on-line Fourier analysis and is facilitating the development of adaptive filtering techniques for the detection of steady-state visual evoked cortical potentials. This versatile system is in regular clinical use for the measurement of electroretinograms and visual evoked cortical potentials.

Electrophysiology↗
PubMed1994

The measurement of steady-state visual evoked cortical potentials using an adaptive noise canceller.

A new software method for measuring steady-state visual evoked cortical potentials (VECPs) has been developed using the principle of adaptive noise cancelling. The steady-state VECP is composed of narrow-band frequency components at harmonics of the stimulus frequency. In clinical recordings, these signal components are masked by wide-band noise, predominantly electroencephalographic activity and muscle noise. The stimulus frequency is exactly known and by using a reference sinusoid at the stimulus frequency (or its harmonics) the adaptive noise canceller (ANC) is able to cancel uncorrelated noise components from the recording. In effect, the ANC functions as an adaptive narrow-band-pass filter at the reference frequency. The performance of the ANC has been evaluated using both simulated and physiological signals. The output of the ANC provides temporal information on the signal amplitude and phase, and can be used to calculate the reliability of signal detection. For this application, the ANC has a number of advantages over the fast Fourier transform: it is a more sensitive detector, it requires fewer calculations, it is less computationally intensive, it requires less memory and it can be implemented in real time.

Algorithms↗
PubMed1994

Isothermal anneal effect on microcrack density around leucite particles in dental porcelain.

Because of the large differential in thermal expansion coefficient between leucite and the surrounding glass matrix, microcracks form around the leucite crystallites during the manufacture of dental porcelain frits. These microcracks decouple leucite from the surrounding glass matrix and affect the bulk thermal expansion of the porcelain frit (Binns, 1983). The purpose of this study was to determine if the microcrack density in a dental porcelain decreased as a result of isothermal heat treatment. Ten specimens of a commercial dental porcelain that had previously exhibited an increase in thermal expansion as a function of isothermal heat treatment were prepared and divided into two groups. The experimental group was heated to 750 degrees C and held for 16 minutes at that temperature. The control group received no anneal. The mean microcrack densities were determined by quantitative stereology to be 575 cm2/cm3 +/- 75 cm2/cm3 (mean +/- SEM) for the control group (no anneal) and 231 cm2/cm3 +/- 25 cm2/cm3 for the experimental group (16-minute anneal at 750 degrees C). The specimens annealed at 750 degrees C had a significantly lower microcrack density (p < 0.001) than those that received no anneal. A model was developed to estimate the effect of microcracking on thermal expansion of the porcelain, and a 6% increase in the coefficient of thermal expansion of the porcelain was predicted from this model as a result of this decrease in microcrack density.

Aluminum Silicates↗
PubMed1993

Malfunction of medical equipment as a result of mains borne interference.

Medical equipment has become more intelligent as the manufacturers have incorporated the latest microprocessor based technology. Equipment malfunction can be caused at any time by inherent errors in the control program but it is particularly important that this is designed to cope with the effects of electrical interference which, in addition, may cause corruption of the software. We have considered interference found in the mains supply in the hospital environment. Using a test protocol with appropriate interference simulators, a wide range of medical equipment was removed temporarily from use and its immunity to electrical mains borne interference tested. Battery operated mains rechargeable devices were unaffected by mains voltage variations including drop-outs and sags whereas mains powered devices were affected to varying degrees of severity. In particular, repetitive drop-outs caused loss of power due to fuse blowing in some life support equipment. Impulses affected 25% and pulse bursts 50% of the equipment tested with some evidence that the more recent designs coped better. The EEC Directive on electro-medical compatibility compliance may cause the design of equipment to be improved but hospitals will have to cope with the above problems in their existing equipment for many years to come.

Electricity↗