Congenital ocular fibrosis syndrome associated with the Prader-Willi syndrome

We report an 11-year-old boy with both the congenital ocular fibrosis and the Prader-Willi syndromes. Since birth he has had bilateral blepharoptosis and fixed ocular misalignment in downward gaze. Pathological examination of the extraocular muscles showed replacement by fibrous tissue. Additionally, the child had the typical clinical features of the Prader-Willi syndrome including mental retardation, hypotonia, short stature, hypogonadism, and obesity. The Prader-Willi syndrome has been consistently associated with interstitial deletions of the long arm of chromosome 15. Although our patient appeared to have normal chromosomes, he may indeed have an undetectable deletion which may be responsible for both syndromes. We believe that the gene(s) for the congenital ocular fibrosis syndrome may be located near the gene(s) for the Prader-Willi syndrome on the long arm of chromosome 15.     

Congenital nystagmus in identical twins: discordant features

Identical twins with congenital nystagmus were examined and studied with eye movement recordings and videotaping. The nystagmus differed in its location of the null zone, its frequency and amplitude, the degree of persistence in the dark, and the degree of impairment of pursuit and optokinetic nystagmus. As the two boys have the identical genetic constitution, we postulate that the discordant features of the nystagmus represent variable expressivity or, alternatively, the influence of environmental factors.     

The Rieger syndrome and a chromosome 13 deletion

The Rieger syndrome, characterized by a prominent Schwalbe line, iris strands to the cornea, iris hypoplasia, dental abnormalities, facial malformations, and umbilical defects, is inherited in an autosomal dominant pattern. We studied a boy with the ocular features of the Rieger syndrome, micrognathia, and redundancy of the periumbilical skin. Chromosome analysis revealed an interstitial deletion of the long arm of chromosome 13 involving the distal region of band q14 through band q31. As there was a previous report of the Rieger syndrome in a child with an interstitial deletion of chromosome 13 (q12,q22), we suggest that a gene for this disorder may be located in the segment q14 to q22.     

The effects of new topical treatments on management of glaucoma in Scotland: an examination of ophthalmological health care

BACKGROUND: The management of glaucoma has been changed in the past decade by the introduction of new drugs. The impact of these changes on clinical care of patients was examined by examining operation and prescribing rates for glaucoma in four geographical areas of Scotland for the years 1994 to 1999. METHODS: A retrospective analysis of national health statistics: primary care prescribing data, hospital derived operation rates, consultant numbers, optometrist numbers, and eye test data, expressed by estimated population at risk of glaucoma. The outcome measures were prescribing volume and cost for glaucoma medications, and operation rates, corrected for population estimated to be at risk of glaucoma (PEG), for trabeculectomy, for Scotland as a whole, and for four geographical "regions" (north east, south east, central, and south west Scotland). RESULTS: Prescribed items per 1000 population estimated to have glaucoma (PEG) increased by 24.9% between 1994 and 1999. This was above the general increase in prescribing in Scotland (17.8%). This increase varied in the four health regions evaluated (14.3% to 31.9%). Prescribing of topical beta blockers increased little (6.4%), but there was a large increase in the use of new products (topical prostaglandins, carbonic anhydrase inhibitors, and alpha(2) agonists), at the expense of miotics (47.7% fall), and older sympathomimetics. This change in prescribing pattern was accompanied by a 61.5% increase in cost (range 42.2% to 73.4% in the four regions). New drugs accounted for more than half of total glaucoma expenditure in 1999. Operation rates (corrected for PEG) fell by 45.9% (range 43.1 to 58.6%) between 1994 and 1999. Other indicators suggested increased activity in ophthalmic areas (for example, cataract operations, eye tests, numbers of optometrists and ophthalmic surgeons all increased). Within north east Scotland operation rates decreased and prescribing increased less than in other regions, both from lowest regional baseline in 1994. CONCLUSIONS: The introduction of new drug classes has had dramatic effects on the prescribing of glaucoma treatments. There has been a decline in older treatments and an increase in new agents, which has been associated with a large reduction in operation rates for glaucoma in Scotland over 6 years. Comparison of prescribing and operation data indicates regional differences in healthcare delivery for glaucoma.     

Polydispersity of a mammalian chaperone: mass spectrometry reveals the population of oligomers in alphaB-crystallin

The quaternary structure of the polydisperse mammalian chaperone alphaB-crystallin, a member of the small heat-shock protein family, has been investigated by using electrospray mass spectrometry. The intact assemblies give rise to mass spectra that are complicated by the overlapping of charge states from the different constituent oligomers. Therefore, to determine which oligomers are formed by this protein, tandem mass spectrometry experiments were performed. The spectra reveal a distribution, primarily of oligomers containing 24-33 subunits, the relative populations of which were quantified, to reveal a dominant species being composed of 28 subunits. Additionally, low levels of oligomers as small as 10-mers and as large as 40-mers were observed. Interpretation of the tandem mass spectral data was confirmed by simulating and summing spectra arising from the major individual oligomers. The ability of mass spectrometry to quantify the relative populations of particular oligomeric states also revealed that, contrary to the dimeric associations observed in other small heat-shock proteins, there is no evidence for any stable substructures of bovine alphaB-crystallin isolated from the lens.     

Ethical considerations for services offering one-to-one guidance for primary care practitioners interested in research

Initiatives which offer support to primary care practitioners interested in research have become widespread in the UK. There has been little debate, however, about the ethical issues involved in such interactions with practitioners. Established codes of practice and analyses of the institutional and strategic contexts have been used to inform this discussion. The paper concludes with a recommendation that more explicit quasi-contractual relationships should be negotiated between those offering and those seeking help.