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Biomedical subjects

S Roberts

Publications and source records attributed to S Roberts.

At least 19 recordsLinked to original sources

Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

A structural cochlear abnormality has been observed by high resolution CT scanning in some families where X-linked deafness is segregating. We now present evidence that the same abnormality is present in a deaf patient who has a deletion within Xq21. This observation provides phenotypic evidence that the genotypic basis of deafness is the same in both patient groups. It is also likely that the perilymphatic fluid "gusher" abnormality may be common to both.

Child

Sudden acquired retinal degeneration ('silent retina syndrome') in two dogs.

Two unrelated adult dogs developed idiopathic, acute-onset, bilateral total blindness. The ophthalmoscopic changes were minimal and no electroretinographic response could be detected in either dog. The retinas were examined ultrastructurally 10 days (dog 1) and two-and-a-half months (dog 2) after they became blind. There was widespread loss of the outer segments of rod and cone photoreceptors. Where the outer segments persisted, there was marked tubulovesicular change with loss of normal orientation in their lamellae. Second order neurons (bipolar cells) and ganglion cells were unaffected. The cause of this selective and massive disruption of rod and cone endings was not established, but acute toxicity is proposed as a possible mechanism.

Animals

Distinct modes of transcription read through or terminate at the c-myc attenuator.

Premature termination of transcription by RNA polymerase II (pol II) occurs in the 5' region of many viral and cellular genes. Modulation of this process, or attenuation, is an important means of transcriptional control, but its mechanism is unknown. Using injected Xenopus oocytes, the efficiency of the mouse c-myc attenuator was tested when it was placed at various distances from the transcription initiation site. The attenuator functioned with each of six different pol II promoters tested; however, termination efficiency declined markedly when it was placed more than approximately 400 bases from the start site. This decline in attenuator function with distance from the start site coincided with increased sensitivity to the pol II inhibitor 5,6-dichloro-1-beta-D-ribofuranosyl benzimidazole (DRB). Thus transcription complexes situated further from the promoter appear to have a lower ability to recognize the attenuator and a greater sensitivity to DRB. Furthermore, polymerases which have read through one attenuation site have a reduced ability to terminate at a second site. The results imply that a discrete subset of elongation complexes is capable of premature termination, and that this subset exists only within the first few hundred bases of the transcription unit. Regulation of termination efficiency may be effected by changing the balance between the two modes of transcription committed either to read through or to terminate prematurely.

Animals

New method of automated sleep quantification.

Since its discovery some 50 years ago, the electro-encephalogram (EEG) has formed the basis for classification of sleep into several stages, either laboriously performed by visual examination of the EEG and related signals or, more recently, by automated techniques. Both visual scoring and most automated analyses are highly subjective and rely on application of a predefined set of rules. A method of analysing the EEG which requires no such application of rules and aims to give some indication of the dynamics of sleep in humans is proposed in the paper.

Adult

Influence of the electrical stimulation of the medial amygdala on adrenocortical sensitivity to adrenocorticotrophin in hypophysectomized rats.

The effects of electrical stimulation of medial amygdala on the adrenocortical sensitivity to adrenocorticotrophin (ACTH) were investigated in hypophysectomized rats. The intravenous injection of ACTH increased the rates of 14C transfer from 14C-l-acetate into corticosterone and cortisol in the adrenal slices of hypophysectomized rats. The electrical stimulation of the medial amygdala produced a further increase in the rates of 14C transfer from 14C-l-acetate into corticosterone and cortisol. From these results, it might be suggested that the medial amygdala was capable of enhancing the adrenocortical steroidogenesis in response to ACTH.

Acetates

Quantitative oropharyngeal Epstein-Barr virus shedding in renal and cardiac transplant recipients: relationship to immunosuppressive therapy, serologic responses, and the risk of posttransplant lymphoproliferative disorder.

Epstein-Barr virus (EBV) infection plays a major role in the pathogenesis of posttransplant lymphoproliferative disorder (PTLD). Quantitative oropharyngeal EBV shedding measured by a DNA-DNA dot blot assay and the genotype of isolates determined by a polymerase chain reaction assay were studied in 23 renal and 23 cardiac transplant recipients followed over the first posttransplant year. Five patients developed PTLD and two additional PTLD renal transplant recipients were studied from the time of diagnosis. Significantly higher levels of EBV were observed in primary versus reactivation infection (P < .04) when sequential courses of antilymphocyte globulins or > 4 g of methylprednisolone were used in the first 6 months after transplant and in patients with versus those without PTLD (P < .04), although the former group had a high incidence of primary infection. Patients with the highest EBV shedding had the poorest serologic responses. All PTLD patients shed EBV-1, which was also shed by patients without PTLD.

Adolescent

The fluid content of the human intervertebral disc. Comparison between fluid content and swelling pressure profiles of discs removed at surgery and those taken postmortem.

The fluid content of the disc, which governs its mechanical response and biological behavior, varies with external load. Because load on the disc changes after death, the fluid content and swelling pressure profiles of human discs taken at autopsy were measured, and compared with discs removed during surgical procedures. In general, discs taken at surgery had a lower fluid content in the nucleus and a higher fluid content in the outer anulus than discs removed at autopsy. In discs removed at surgery, the swelling pressure of the nucleus was higher than that of the anulus, whereas in autopsy discs the swelling pressure profile was flat. These changes are though to result from changes in load after death, and could influence the results of in vitro mechanical tests on the disc.

Biomechanical Phenomena

A protein-binding site in the c-myc promoter functions as a terminator of RNA polymerase II transcription.

Termination of transcription not only allows polymerases that have completed RNA synthesis to recycle, but it also has important functions in transcriptional regulation and in preventing promoter interference. The molecular basis for termination by RNA polymerase II (pol II) is unclear, however. We have identified a termination site in the promoter region of the c-myc gene, whose function correlates with DNA binding by a nuclear factor. When the c-myc gene was transcribed in injected Xenopus oocytes or a HeLa nuclear extract, a fraction of RNA initiated at the first promoter, P1, terminated at two positions, T1A and T1B, which flank the TATA box of the second promoter, P2. T1B is a T-rich sequence that resembles previously identified attenuation sites, but T1A appears to represent a different class of termination site. T1A is situated approximately 10 bases upstream of an element that overlaps the P2 TATA box. Mutagenesis of this element affected both the efficiency and the position at which termination occurred. A 28-base sequence including this element caused a low level of termination when inserted into the alpha-globin gene in either orientation. This sequence bound a factor called TBF I (terminator-binding factor), whose binding specificity correlated with T1A terminator function. We suggest that TBF I may function as a pol II termination factor.

Animals

Genetic analysis of atopy in three large kindreds: no evidence of linkage to D11S97.

Both genetic and environmental influences have been implicated in the pathogenesis of atopic disease. A recent report suggested that a major gene providing susceptibility to atopy was transmitted in a pattern consistent with autosomal dominant inheritance and evidence was presented that places the disease locus near the D11S97 marker on human chromosome 11q. In this report, we present three large, highly characterized pedigrees in which atopy is transmitted in a pattern consistent with autosomal dominant inheritance. Genotypes at the D11S97 and HLA loci were evaluated using both lod score and sib pair methods of analysis. In these pedigrees, we reject close moderate linkage (up to 10 cM) of atopy with both D11S97 and HLA.

Genetic Linkage

Coliform bacteria from aquatic sources in Fiji.

Coliform bacteria were abundant in water and bivalve molluscs in the rivers and present to a lesser extent in the coastal areas of Fiji. The rivers fed by treated sewage were highly polluted. There was a noticeable increase in concentration of coliforms in bivalve molluscs. It was also found that these bacteria could survive and grow in river water and seawater over a 5-d period, and had a rapid growth rate in nutrient broth under ideal laboratory conditions. They were characterized by the API 20E identification system.

Animals

A comparison of natural product, triclosan and chlorhexidine mouthrinses on 4-day plaque regrowth.

There is a continuing search for ingredients to enhance the chemical plaque inhibitory action of oral hygiene products. Sanguinarine, other natural extracts and triclosan have already been used in products. The aim of this study was to evaluate a number of triclosan and natural product rinses for effects on plaque regrowth. In particular, the influence of other rinse components were assessed, notably sodium lauryl sulphate (SLS) and zinc. The study was a randomised, blind, 9-cell cross-over design to measure the effects of each rinse on 4-day plaque regrowth from a zero baseline. 15 volunteers rinsed 2x daily with each product and plaque was recorded by area and score. The 0.2% chlorhexidine rinse (positive control) was significantly more effective, and the saline rinse (negative control) significantly less effective, than other rinses. Sanguinarine alone was little different from saline and the addition of zinc made a modest improvement in activity. The 3 triclosan/SLS rinses were more effective than the sanguinarine rinses but similar to their minus triclosan control rinse. A natural product/SLS experimental rinse was second to chlorhexidine and, in many analyses, significantly better than all other rinses, but caused some oral erosions. The results indicate that the plaque inhibitory properties of basic ingredients such as SLS may be difficult to enhance or surpass. However, the possible range of recipes, particularly using natural ingredients, provides scope for research and development in the field of oral hygiene products.

Adult

Effectiveness of ofloxacin in the treatment of Chlamydia trachomatis and Neisseria gonorrhoeae cervical infection.

Forty patients with cervical infection caused by Chlamydia trachomatis were treated with ofloxacin (20) or doxycycline (20). Ofloxacin was successful in eradicating C. trachomatis from all 20 (100%) patients. Doxycycline was effective in 18 of 20 (90%) patients. Three patients had a concomitant cervical gonococcal infection. All three were successfully treated: one with ofloxacin and two with doxycycline. Ofloxacin, 300 mg, taken twice daily for 7 days, is effective in eradicating endocervical C. trachomatis infection.

Adolescent

Cancer of the cervix--old and young, now and then.

A study of two 5-year periods, 1960-1964 and 1982-1986, in Queensland is made. Changing patterns of preinvasive and invasive cervical carcinoma in the world literature are discussed. The age of presentation, stage, histology, and results in Queensland for cervical carcinoma are analyzed. There are over 500 patients in each quinquennium. While the total female population has increased 86%, the maximum increase is in patients under 35 years and over 65. There has been a 50% decrease in the incidence of cervical carcinoma, but a doubling under the age of 30. The stage at diagnosis has markedly improved with 88% stage Ib in the young as opposed to 50% formerly. Late-stage disease remains a problem of the aged. The mortality in both time spans increases with age. Histologic patterns show an increase in nonsquamous patterns and increased mortality in the rare patterns. We have no evidence of the emergence of a rapidly progressive carcinoma in the young. Papanicolaou smear and education programs appear to be preventing cervical carcinoma and allowing diagnosis of the disease at an earlier stage and age. This is reflected in a decrease in mortality from 9.6 per 100,000 (1960-1964) to 4 per 100,000 (1982-1986).

Adult

Early life precursors of psychiatric outcomes in adulthood in subjects at risk for schizophrenia or affective disorders.

In the New York High-Risk Project (NYHRP), 186 offspring of schizophrenic, affectively ill, and psychiatrically normal parents have been followed prospectively from 1971-72 to the average age of 27 years in 1990 with the goal of identifying early precursors of later psychopathology. In this report, we use path analyses to examine the relationship of several life-history variables to three pathological outcomes in the offspring: namely, psychosis, psychiatric hospitalization, and psychological dysfunction. The chief direct relationship with these outcomes is the effect of having a schizophrenic parent. The latter effect is also mediated indirectly by IQ.

Adolescent

Cost efficiency of neonatal nurseries: the significance of unit size.

The cost of neonatal intensive care is high, and human and financial resources are finite. It is therefore essential to provide such care efficiently in terms of costs while still maintaining standards of care. We looked at the relationship of unit size to cost and determined the optimum and minimum size of the unit in terms of cost efficiency. Our data suggest that units with fewer than 6 ventilator cots were less cost-efficient than those with more cots while those with 12 ventilator cots were the most efficient. The calculations were done only up to 16 ventilator cots. Similarly, level II units were most cost-efficient when attached to an intensive care unit and had over 16 cots.

Australia

Immunolocalisation of type VI collagen in the intervertebral disc.

Type VI collagen has been isolated from many connective tissues, including the intervertebral disc. Distribution of this collagen, however, varies considerably within different tissues. In adult mammalian nasal and articular cartilage it is localised preferentially in the matrix immediately surrounding the cell. Intervertebral discs from various species and of various ages were studied and a similar pericellular localisation was found. When antisera to type VI collagen were used staining was seen around the cells of all sections of intervertebral disc, being particularly prominent in the nucleus pulposus. Staining on or around the cells was also seen in the adjacent cartilaginous end plate and bone.

Adult