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Biomedical subjects

M Edwards

Publications and source records attributed to M Edwards.

At least 55 records · Page 3Linked to original sources

Predictive diagnosis of multiple endocrine neoplasia (MEN 1) in four Australian kindreds.

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is a tumour predisposition syndrome that usually manifests in the first four decades of life. It has an autosomal dominant mode of inheritance which means that any new member of a MEN1 kindred has roughly a 50% chance of developing the disorder during their lifetime. The localisation of the MEN1 gene to a small region of chromosome band 11q13 has led to the development of DNA-based predictive diagnosis for this disease. AIMS: To establish a polymerase chain reaction (PCR)-based system, using simple tandem repeat polymorphisms (STRPs), to predict gene carriers in four Australian MEN 1 kindreds. METHODS: Six STRP markers flanking the MEN1 region of chromosome band 11q13 were used to screen individuals for a common haplotype in order to determine carrier status. RESULTS: The accuracy of prediction was calculated to be > 95% in informative individuals. CONCLUSIONS: DNA-based presymptomatic detection of affected members of MEN 1 kindreds could facilitate their care and reduce the inconvenience and expense of repeated testing of unaffected members. However, due to occasional recombination events or uninformativeness of markers in certain individuals, carrier status cannot always be predicted.

Adult

Pressure sore risk calculators: some methodological issues.

Pressure sore risk calculators have assumed a cardinal role in pressure sore prevention and management. Doubts have been expressed as to the extent to which the use of risk calculators should direct care as they have not been found to display high levels of reliability and validity. This paper raises important methodological issues regarding the reliability and validity of risk calculators in order to inform the debate as to the direction of future research in this area.

Bias

Anthropometric measurements and ejection injuries.

BACKGROUND: A previous study examined anthropometric variables to determine possible ejection seat risk factors. It concluded that individuals who weighed below the average body weight or who met the criteria of having a tall, thin physique as measured by body mass index (BMI = kg.m-2) were significantly more at risk for acceleration induced back injuries. HYPOTHESIS: Because of the increased number of female pilots and the potential need to modify ejection seats for lighter aviators, this retrospective analysis of Naval Safety Center data attempted to reproduce and confirm the same results with more current data, covering a 5-yr period from Jan 1989-Dec 1993. METHODS: In this study, the same criteria were used to define back injury, including thoracic or lumbar vertebral fractures and soft tissue injuries, and the same anthropometric variables were used, including weight, height, BMI, and below average weight. Additional categories of injury were examined, including all spinal fractures alone without soft tissue back injuries, all injuries combined, and severity of injury. Sitting height and trunk height were added to the variables. RESULTS: Out of 810 aircrew involved in mishaps, 199 ejected. Of all the ejections, 111 (56%) had some type of injury as a result of the ejection. Severe injuries occurred in 8 (4%) including 4 (2%) fatalities. Back injuries occurred in 44 (22%), and 8 (4%) involved spinal fractures. Although there were no significant risk factors for ejection back injury, weight and height were statistically significant risk factors for severe injury and spinal fracture, respectively. CONCLUSIONS: Aircrew with severe injury were heavier (average weight 88 kg. vs. 79 kg.). In addition, taller aircrew (185 vs. 180 cm.) were at increased risk for any spinal fracture.

Acceleration

Calibration and validity of an eccentric photorefractor.

A new graphical calibration method was developed to convert the photorefractive reflex into refractive error. With this graphical method, the refractive error can be obtained for pupil sizes and for photorefractive reflex sizes which have not been precalibrated. In the conventional method, the refractive error associated with non-precalibrated pupil and reflex sizes is obtained by interpolating between neighbouring precalibrated points. This introduces error because the relationship between refractive error and pupil and reflex size is not linear. Three hundred and sixty-one children aged between 36 and 65 months were clinically examined and photorefracted. The refractive error obtained using retinoscopy and the eccentric photorefractor agreed well with each other, although the photorefractor tended to under-estimate refractive error. Using the referral criteria developed by Chan, O.Y.C. and Edwards, L.M. (Refraction referral criteria for Hong Kong Chinese Children. Ophthal. Physiol. Opt. 14, 259-256, 1994), the photorefractor had a sensitivity of 74.6% and a specificity of 96.4%. All the under-referred cases were borderline, having just failed the referral criteria. All the cases with hyperopia of > + 2.0 D, astigmatism of > 1.25 D and visual acuity of worse than 6/18 were identified.

Calibration

Obesity in primary care patients in Kelantan, Malaysia: prevalence, and patients' knowledge and attitudes.

This study measured the body mass index (BMI), and assessed attitudes and knowledge about obesity, of 197 male and 217 female patients aged 20-59 years attending the primary care clinic of the university hospital in Kelantan, Malaysia. There was no significant difference between the mean BMI of males (23.7) and females (24.2). In the overweight group (BMI 25-29.9) were 60 men (30%) and 66 women (30%). In the obese group (BMI 30 and above) were 12 men (6%) and 22 women (10%). Both diabetes mellitus and hypertension were associated with significantly higher BMI's. Knowledge about obesity was lacking. Sixty-three (15%) failed to recognize that obesity is bad for health. When asked the causes of obesity, 88 (21%) failed to mention either diet or lack of exercise. "Being happy" was suggested as a cause by 32 (8%). When asked if certain foods would cause obesity if eaten in excess, 45 (11%) said "No" for fatty foods, and 164 (40%) said "No" for sweet foods. Concerning appearance, 30 (15%) men regarded an obese man as normal or even handsome, while 49 (23%) women regarded an obese woman as normal or beautiful. Obesity is common among our adult patients, and is associated with some of their common health problems. However, a substantial minority do not regard obesity as unhealthy, do not relate it to diet or lack of exercise, do not recognize important groups of fattening foods, and do not regard obesity as unattractive.

Adult

Molecular analysis at the NF1 locus in astrocytic brain tumors.

BACKGROUND: Patients with neurofibromatosis type 1 (NF1) are at increased risk for developing malignant neural crest tumors and juvenile myeloid leukemia. Although the normal allele of the NF1 tumor-suppressor gene is frequently deleted in some of the malignant tumors that arise in patients with NF1, the role of NF1 alterations in the sporadic forms of these cancers is unclear. METHODS: A series of intragenic sequence polymorphisms was used to investigate lymphocyte and tumor DNA samples from 22 adults with high grade malignant gliomas for loss of heterozygosity (LOH) at NF1. In addition, an assay based on the polymerase chain reaction was used to screen these tumors for point mutations at codon 1423. RESULTS: One recurrent anaplastic astrocytoma showed LOH within NF1 but not with a flanking marker located near the gene. Of 21 informative tumors, none showed point mutations affecting codon 1423 of NF1. CONCLUSION: These data suggest that LOH at NF1 is uncommon in sporadic high grade astrocytoma, and codon 1423 is not a "hot spot" for activating point mutations in these tumors.

Adult

Constitutional p53 mutations associated with brain tumors in young adults.

Identification of patients at risk for developing brain tumors is important for the development of preventative strategies. Because individuals with germline p53 mutations may be at increased risk, we examined DNA from brain tumor-derived cell lines and malignant and normal nervous system tissue for p53 gene mutations using the single strand conformation polymorphism assay and direct sequencing of polymerase chain reaction-amplified DNA. We found mutations in the p53 gene in eight of 22 adult glioma tissue specimens and germline mutations in two of these eight patients. In contrast, mutation of the p53 gene was not detectable in either 16 glial tumors occurring in children, glial tumor tissue from three unrelated glioblastoma multiforme patients with a familial history of cancer, or in benign meningiomas. One constitutional p53 mutation was a G to T transversion at codon 154, and the second was a C to T transition at codon 256. Both patients with germline mutations developed glioblastoma multiforme before the age of 31, although the median age for glioma patients is above 50. These findings suggest that p53 germline mutations may identify a subset of young adults predisposed to the development of high-grade astrocytic tumors.

Adult

Global motion perception: no interaction between the first- and second-order motion pathways.

The experiments reported here address the issue of whether the pathways which extract motion from first-order and second-order spatial patterns remain separate or whether they combine at some higher level in the motion system to form a single pathway. The question is addressed by investigating the interaction of first-order and second-order stimuli in the processing of a global-motion stimulus [a variant of the task introduced by Newsome & Pare (Journal of Neuroscience, 8, 2201-2211, (1988)]. Two experimental procedures were used. The first consisted of determining the effect of the addition of dots of one type (e.g. first order) undergoing purely random motion on the ability to extract the global-motion signal carried by dots of the other type (e.g. second order). The second experimental procedure consisted of determining the effect of maintaining a coherent-motion signal in one type of dot, moving in the opposite direction to the global-motion direction, on the ability to extract the global-motion signal carried by dots of the other type. The dots were matched for their effectiveness in producing a global motion percept and the results for both procedures were the same. First-order dots impaired the ability to extract second-order global-motion, and second-order dots had no effect on first-order global-motion extraction. It is argued that the sensitivity of the second-order global-motion system to the first-order dots is due to the ability of the second-order local-motion detectors to detect these dots. The present results are thus interpreted as indicating that the first-order and second-order motion pathways remain separate up to and including the level in the motion system at which global-motion signals are extracted.

Humans

The function of visual search and memory in sequential looking tasks.

UNLABELLED: Eye and head movements were recorded as unrestrained subjects tapped or only looked at nearby targets. Scanning patterns were the same in both tasks: subjects looked at each target before tapping it; visual search had similar speeds and gaze-shift accuracies. Looking, however, took longer and, unlike tapping, benefitted little from practice. Looking speeded up more than tapping when memory load was reduced: memory was more efficient during tapping. CONCLUSION: eye movements made when only looking are different from those made when tapping. Visual search functions as a separate process, incorporated into both tasks: it can be used to improve performance when memory load is heavy.

Eye Movements