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Biomedical subjects

N Thomas

Publications and source records attributed to N Thomas.

At least 91 records · Page 5Linked to original sources
PubMed1997

Optical observations of comet Hale-Bopp (C/1995 O1) at large heliocentric distances before perihelion.

The activity of comet Hale-Bopp (C/1995 O1) was monitored monthly by optical imaging and long-slit spectroscopy of its dust and gas distribution over heliocentric distances of 4.6 to 2.9 astronomical units. The observed band intensities of the NH2 radical and the H2O+ ion cannot be explained by existing models of fluorescence excitation, warranting a reexamination of the corresponding production rates, at least at large heliocentric distances. Comparing the production rate of the CN radical to its proposed parent, HCN, shows no evidence for the need of a major additional source for CN in Hale-Bopp at large heliocentric distances. The dust and CN production rates are consistent with a significant amount of sublimation occurring from icy dust grains surrounding Hale-Bopp.

Ammonia↗
PubMed1997

D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele.

The relationship between a dopamine D2 receptor genetic polymorphism at the Taq1 A locus and the level of D2 receptor binding was investigated in normal, middle aged to elderly subjects with no psychiatric or neurological disorders. D2 receptor binding was measured by autoradiography in the caudate, putamen and nucleus accumbens, using the specific D2 receptor ligand [3H]-raclopride. In a sample of 44 individuals, only one was homozygous for the A1 allele, 25 were homozygous for A2 and 18 were heterozygotes. The presence of one or two A1 alleles was associated with reduced D2 receptor binding in all areas of the striatum, reaching statistical significance in the ventral caudate and putamen (p = 0.01 and p = 0.044, respectively). This reduction was more marked in males than females, particularly in the putamen. A genetic predisposition to lower D2 receptor expression may increase susceptibility to neuroleptic medication or clinical symptoms that are associated with diseases involving dopaminergic pathology.

Aged↗
PubMed1997

A comparison of two dressings in the management of chronic wounds.

A hydropolymer dressing (Tielle) and a hydrocolloid dressing (Granuflex) were compared in a randomised controlled clinical study involving 100 patients with leg ulcers and 99 patients with pressure sores in the community. Statistically significant differences in favour of the hydropolymer dressing were detected for dressing leakage and odour production, but no statistically significant differences were recorded in the number of patients with either leg ulcers or pressure sores who healed in each treatment group.

Aged↗
PubMed1997

High-throughput RT-PCR analysis of multiple transcripts using a microplate RNA isolation procedure.

We have developed a high-throughput, multiplex reverse transcription PCR (RTPCR) assay that is suitable for the analysis of medium-to low-copy cellular RNA transcripts from small numbers of cells (10(4)). High throughput was attained by utilizing microplate-based RNA extraction and RTPCR protocols, followed by PCR product visualization of a multiwelled agarose gel, stained with SYBR Green I dye. The transcriptional assay was unaffected by solvents (dimethyl sulfoxide and methanol) routinely used in high-throughput drug screens at concentrations required for compound solubilization. Furthermore, it has been used successfully for the investigation of differential mRNA expression levels of tumor necrosis factor alpha (TNF-alpha) and Interleukin-1 beta (IL-1 beta) in lipopolysaccharide (LPS)-stimulated THP-1 cells (a human monocytic cell line) and the identification of specific IL-1 beta transcriptional inhibitors.

Benzothiazoles↗
PubMed1996

Analysis of the D1S80 (pMCT118) VNTR locus polymorphism in a native Kuwaiti population by the polymerase chain reaction.

We have determined the allele and genotype frequencies at the hypervariable locus D1S80 in a native Kuwaiti population using the polymerase chain reaction technique and subsequent high resolution gel electrophoresis. In a sample of 200 individuals, 21 alleles and 57 genotypes were detected. The alleles with 18 and 24 repeat units were most common with frequencies of 0.188 and 0.408 respectively. The distribution of the observed genotypes was in agreement with the Hardy-Weinberg equilibrium prediction. The observed heterozygosity for the population sample was 0.80 with the allelic diversity of 0.781 +/- 0.029 and the power of discrimination was 0.94. The data obtained in this study are potentially useful for individual identification in forensic casework.

Alleles↗
PubMed1996

The balance of prevention, investigation, and treatment in the management of child protection services.

The planning, development, and review of child protection services and policies (management) is vitally important and yet to date has received very little consideration. This paper explores the balance between three components of child protection policy: prevention, investigation, and treatment. As part of a review of the management of child protection services in Wales, the authors examined the effectiveness of Area Child Protection Committees (ACPCs), which are multidisciplinary forums responsible for the local provision of child protection services. Thirty-eight (of 171) representatives were interviewed. The balance of the three components (prevention, investigation, and treatment) in policy making was explored. Overall, there was a substantial emphasis on investigation procedures, with very little consideration of prevention strategies, and treatment services virtually ignored. Treatment was described as a "gap" in the service consideration of ACPCs. The authors consider ways to shift the balance so that treatment and prevention services can be given more priority within a comprehensive child protection service.

Child↗
PubMed1996

X-linked myotubular myopathy. 33rd ENMC International Workshop Soest. The Netherlands, 9-11 June 1995.

The research work presented at this the 2nd Workshop of the International Consortium on X-linked Myotubular Myopathy has clearly shown the benefits to be gained from a multinational research consortium with a common interest in identifying and cloning the MTM1 gene. The clinicians have rapid access to knowledge about the current state of the detailed physical map encompassing the disease gene, which is of particular importance when asked to carry out a linkage-based carrier risk assessment in such families, and the molecular geneticists benefit by having access to a large panel of samples from clinically well-documented XMTM patients, and their families, for the rapid testing of any new potential candidate genes. Strategies for the rapid exchange of information and material between members of the consortium to facilitate the cloning of the MTM gene were generated in the hope that the next Workshop will see the consortium discussing the clinical and histological implications of the mutations found. To this end it was decided to set up a Register, based in Cardiff, of all XMTM patients from whom tissue and DNA samples had been made available to the consortium. A decision was also made to collect samples from the very rare families with possible autosomal MTM for future study.

Genetic Linkage↗
PubMed1996

Stretch activation and nonlinear elasticity of muscle cross-bridges.

When active insect fibrillar flight muscle is stretched, its ATPase rate increases and it develops "negative viscosity," which allows it to perform oscillatory work. We use a six-state model for the cross-bridge cycle to show that such "stretch activation" may arise naturally as a nonlinear property of a cross-bridge interacting with a single attachment site on a thin filament. Attachment is treated as a thermally activated process in which elastic energy must be supplied to stretch or compress the cross-bridge spring. We find that stretch activation occurs at filament displacements where, before the power stroke, the spring is initially in compression rather than in tension. In that case, pulling the filaments relieves the initial compression and reduces the elastic energy required for attachment. The result is that the attachment rate is enhanced by stretching. The model also displays the "delayed tension" effect observed in length-step experiments. When the muscle is stretched suddenly, the power stroke responds very quickly, but there is a time lag before dissociation at the end of the cycle catches up with the increased attachment rate. This lag is responsible for the delayed tension and hence also for the negative viscosity.

Adenosine Triphosphate↗
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

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

We have recently described a female patient with myotubular myopathy (MTM1) and an interstitial deletion at Xq28. Characterisation of the deletion allowed us to position the MTM1 gene to a 600 kb region between DXS304 and DXS497. In order to further restrict the region we screened for deletions in a set of 38 patients. We found two overlapping deletions in boys that in addition to MTM1 showed an unexpected abnormal genital development. As the latter phenotype is not found in the other non-deleted MTM1 patients, our observations are best explained by a contiguous gene syndrome. The deletions define a 430 kb region that contains the MTM1 gene and most likely a gene implicated in male sexual development. A high resolution physical map of this region is presented.

Base Sequence↗