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Biomedical subjects

E Roberts

Publications and source records attributed to E Roberts.

340 records · Page 19Linked to original sources

Factors affecting presentation and delay in patients with testicular cancer: results of a qualitative study.

A qualitative study was undertaken with men treated for testicular tumours, to ascertain how they interpreted their symptoms and the factors which influenced a decision to consult a physician. The research was undertaken with six men who had been diagnosed as having testicular tumours. Interviews were also conducted with four wives and one mother. The findings showed that giving men information on testicular cancer may not guarantee early presentation. Symptoms were not generally attributed to cancer and the one patient who practised self-examination had delayed seeking help for 6 months. The extent to which symptoms affected the patient's lifestyle was also a factor in the decision-making process, as was the checking of symptoms with other family members. Wives were often pivotal in persuading men to seek help. The discovery of testicular symptoms produced emotional responses which included embarrassment and fear of both cancer and castration. There was evidence of strong feelings of masculine identity bound up with the appearance of 'normal' genitals. Provider-delay was identified in four cases and was associated with misattribution of symptoms by physicians and the failure to initiate specialist referral. Delay was under-recorded in the hospital notes in all cases where presentation was not immediate.

Adult↗

The pharmacokinetics of acebutolol in man, following the oral administration of acebutolol HCl as a single dose (400 mg), and during and after repeated oral dosing (400 mg, b.d.).

The pharmacokinetics of acebutolol have been studied in eight healthy male volunteers following the oral administration of acebutolol hydrochloride ('Sectral', May & Baker) as a single dose (400 mg), and during and after repeated oral dosing (400 mg, b.d. for 56 days). Following single dose administration, considerable inter-subject variation in plasma levels of parent drug and the major metabolite, diacetolol, was evident. Acebutolol appeared to be eliminated from plasma in a bi-phasic manner, and this was confirmed from urinary excretion rate data. Mean initial and terminal half-lives of about 2 and 11 h, respectively, were determined. Plasma levels of diacetolol were greater than those of parent drug from 3 to 4 h following dose administration. Total urinary excretion of diacetolol was generally greater than that of acebutolol. During repeated dosing, steady-state plasma levels of acebutolol and diacetolol were achieved in 6 volunteers. Acebutolol did not appear to stimulate or inhibit its metabolism.

Acebutolol↗

Brain tissue pO2 and pCO2 levels before and after cerebral revascularization.

Microvascular surgical techniques have made possible the improvement of cerebral blood flow, as demonstrated by angiography and by regional cerebral blood flow research. In this study, simultaneous mass spectrometer determinations of brain tissue and blood pO2 and pCO2 levels were used to evaluate the effectiveness of common carotid-supraclinoid carotid anastomoses (CC-SCA) in dogs. With blood pCO2 maintained at a constant level, the baseline brain tissue pO2 and pCO2 levels were recorded. During the CC-SCA procedure, which involved brain retraction and temporary vascular occlusion, brain tissue pO2 levels fell to 40% of baseline and pCO2 levels rose by 35%. Following restoration of flow via the anastomosis, the brain tissue pO2 and pCO2 levels again reached baseline.

Animals↗

Alzheimer's disease may begin in the nose and may be caused by aluminosilicates.

Genetic factors may interact with aging changes in the nasal mucociliary apparatus to increase the probability that ubiquitously occurring aluminosilicates may enter sensory neurons of the olfactory epithelium and spread transneuronally to several olfactory-related areas of the brain, thereby initiating changes that eventually result in neuronal damage typical of Alzheimer's disease. A speculative sequence of events is suggested by which neuronally-contained aluminosilicates might cleave or otherwise alter a normal cellular protein in such a manner that aggregates would arise that could interfere with cellular function and which also could act in a pseudo-infective manner, relaxing translational and transcriptional controls in the synthesis of the native protein. Some relevant experiments and potential therapies arising from the hypothesis presented are discussed.

Aging↗

Beyond measurement: the pattern is the thing.

Perhaps cognitive and brain imaging measures have been pushed almost as far as they can go in helping diagnose or understand AD. Their value may increase with the development of better models of the disease and the addition of new types of measurements to the armamentarium (e.g., eye-tracking, olfactory, and dermatoglyphic evaluations). Together they may lead to a more precise definition of the "AD pattern."

Alzheimer Disease↗

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation but without other associated malformations and no apparent aetiology. The majority of cases of primary microcephaly exhibit an autosomal recessive mode of inheritance. We now demonstrate the genetic heterogeneity of this condition with the identification of a second primary microcephaly locus (MCPH2) on chromosome 19q13.1-13.2 in two multi-affected consanguineous families. The minimum critical region containing the MCPH2 locus is defined by the polymorphic markers D19S416 and D19S420 spanning a region of approximately 7.6 cM.

Adolescent↗

Comparison of enzyme mismatch cleavage and chemical cleavage of mismatch on a defined set of heteroduplexes.

Two mutation detection methods based on the cleavage of mismatched heteroduplexes were compared and evaluated. These techniques, chemical cleavage of mismatch (CCM) and enzyme mismatch cleavage (EMC), have the advantages over other available methods of being able to detect and localize mutations in relatively large fragments of DNA (> or = 1 kb). We have constructed clones that enable us to create heteroduplexes of 500 bp, 1 kb, and 1.5 kb and have assessed each of the methods over a range of criteria. Both were able to detect and localize all four types of single-base mismatch and insertion/deletions of 1-5 bp. Whereas EMC was efficient at detection of insertion/deletions in a broad size range of fragments and has the advantage over CCM of using no hazardous chemicals, in our hands it has not been sufficiently robust that we felt confident to consider it for diagnostic use in its present form. CCM using hydroxylamine was efficient over the entire range of fragment sizes tested and using potassium permanganate with tetraethylammonium chloride was efficient up to 1 kb.

Base Pairing↗

No evidence for linkage between schizophrenia and eight microsatellite markers on chromosome 19.

We report the results of a linkage study of eight markers on chromosome 19 in a sample of 24 families multiply affected with schizophrenia and related psychoses. This study forms part of a systematic search of the entire genome using microsatellite markers spaced at 10-20 cM intervals. These data provide no evidence for the presence of a gene of major effect on chromosome 19 under the assumption of genetic homogeneity or heterogeneity. We have attempted to describe the extent to which this region has been excluded and demonstrate that while it is possible to exclude near-dominant and recessive models under the assumption that all families are linked to the same locus, power for exclusion falls away rapidly when incomplete penetrance and heterogeneity are invoked.

Chromosomes, Human, Pair 19↗