Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

PURPOSE: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). METHODS: Probands with CC, FEVR, and POAG were enrolled in three independent genetic eye studies in Tasmania. Genealogy confirmed these individuals were closely related and subsequent examination revealed 11 other family members with some or all of the associated disorders. RESULTS: Twelve individuals had CC thought to be of childhood onset, with one child demonstrating progressive lenticular opacification. One individual had severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye ≤-3 Diopters. DNA testing excluded mutations in myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and tetraspanin 12 (TSPAN12). Haplotype analysis excluded frizzled family receptor 4 (FZD4) and low density lipoprotein receptor-related protein 5 (LRP5), but only partly excluded EVR3. Multipoint linkage analysis revealed multiple chromosomal single-nucleotide polymorphisms (SNPs) of interest, but no statistically significant focal localization. CONCLUSIONS: This unusual clustering of ophthalmic diseases suggests a possible single genetic cause for an apparently new cataract syndrome. This family's clinical ocular features may reflect the interplay between retinal disease with lenticular changes and axial length in the development of myopia and glaucoma.

Integration of full divertor detachment with improved core confinement for tokamak fusion plasmas.

Divertor detachment offers a promising solution to the challenge of plasma-wall interactions for steady-state operation of fusion reactors. Here, we demonstrate the excellent compatibility of actively controlled full divertor detachment with a high-performance (ßN ~ 3, H98 ~ 1.5) core plasma, using high-ßp (poloidal beta, ßp > 2) scenario characterized by a sustained core internal transport barrier (ITB) and a modest edge transport barrier (ETB) in DIII-D tokamak. The high-ßp high-confinement scenario facilitates divertor detachment which, in turn, promotes the development of an even stronger ITB at large radius with a weaker ETB. This self-organized synergy between ITB and ETB, leads to a net gain in energy confinement, in contrast to the net confinement loss caused by divertor detachment in standard H-modes. These results show the potential of integrating excellent core plasma performance with an efficient divertor solution, an essential step towards steady-state operation of reactor-grade plasmas.

Description of X-linked megalocornea with identification of the gene locus.

We studied the clinical appearance and inheritance in five families with X-linked megalocornea. Affected male subjects had corneal diameters between 13.0 and 16.5 mm. Arcus juvenilis, mosaic corneal dystrophy, and cataracts were found only in adult affected male subjects. No carrier female abnormality was identified. The gene locus for the X-linked form is in the region Xq12-q26. This is near the locus described for Aarskog (facial-digital-genital) syndrome, Xq12-13.

Dose dependent effects of alcohol on visual evoked potentials.

The effects of various alcohol doses on components of the visual evoked potential were investigated. Using a repeated measures, Latin square design, five alcohol dose conditions were administered to ten male subjects: 0.00 (placebo); 0.28; 0.36; 0.54 and 0.72 g/kg total body weight. EEG responses to a reversing checker board stimulus were measured in a standard oddball paradigm. In the alcohol conditions, latencies of the P1 and P2 components of the VEP were unaffected. However, reaction time, and the latencies of N2 and P3 displayed significant dose related increases with increasing blood alcohol levels. Further, RMS power of the P3 complex was reduced by higher alcohol doses, as was the N2-P3 amplitude difference at central and parietal sites. It is concluded that the latency and power of the endogenous components of the VEP are altered by alcohol, without effects being seen in earlier components.

Disturbance of sleep in blindness.

PURPOSE: To determine the prevalence and severity of sleep disturbance in blind subjects and its relation to the form and duration of visual loss. METHODS: Of 403 blind subjects (visual acuity of less than 20/200 or a visual field of less than 5 degrees) recruited for the study, 15 were excluded because of affective disorder as identified by Montgomery Asberg Depression Scale. The remaining 388 subjects and a comparison group of 44 normally sighted individuals underwent an interview, and the Pittsburgh Sleep Quality Index questionnaire was administered. Sleep disturbance was classified as mild, moderate, or severe. RESULTS: Disturbance of sleep was recorded in 189 (48.7%) of the blind subjects. The prevalence was higher and the sleep disturbance was more severe in those with no perception of light than in those with light perception or better visual acuity. In the comparison group, four (9.1%) had mild sleep disturbance only. The differences between blind subjects and normally sighted individuals were highly significant (P < .001). The most common sleep-related problem among the blind subjects was interrupted sleep, followed by increased sleep latency, short sleep duration, and daytime naps. Among the blind subjects, no correlation was found between the extent of sleep disturbance and the duration and pattern of visual loss. CONCLUSIONS: Blind subjects who retain light perception, as well as those with total loss of vision, have a high frequency of sleep disturbance, although disorder is more common and more severe in subjects with no light perception. Management of the sleep disturbance may improve the quality of life in the visually handicapped.

How thick should a retina be? A comparative study of mammalian species with and without intraretinal vasculature.

In this study we describe a measurement method which closely approximates in vivo retinal thickness. Using this method we examined the laminar organisation of vascular and avascular retinae from placental and marsupial mammals. Thickness measurements on retinal wholemounts show that the avascular retinae of the placental guinea pig (140 microns) and the marsupial brushtail possum (170 microns) are thinner and show less centroperipheral taper than do the vascular retinae of placental cats (250 microns), rats (220 microns) and marsupial quolls (220 microns). In general, limitation in thickness of avascular retinae is borne by most retinal layers, but most particularly by the inner plexiform layer, the synaptic region farthest removed from the choroidal blood supply. Except for the absence of blood vessels, the histological organisation of the brushtail possum's retina resembles closely that of its fellow marsupial, the quoll's. In contrast, intraretinal organisation differs amongst the two avascular retinal species with the guinea pig displaying a much coarser photoreceptor grain.

Volatile flavor components of rice cakes.

Volatiles were obtained from commercially prepared and laboratory-prepared rice cakes using high-flow dynamic headspace isolation with Tenax trapping. Analysis was carried out by capillary GC/MS. More than 60 compounds were identified. Major volatiles included 1-hydroxy-2-propanone, furfuryl alcohol, 2, 5-dimethylpyrazine, 2-methylpyrazine, pyrazine, hexanal, furfural, pentanol, 3-hydroxy-2-butanone (acetoin), and ethyl-3, 6-dimethylpyrazine. Although not ideally applicable to a dry product, concentration/threshold ratios indicated that the compounds with a high probability of contributing to the aroma and flavor included 3-methylbutanal, dimethyl trisulfide, 2-ethyl-3,5-dimethylpyrazine, 4-vinylguaiacol, hexanal, (E,E)-2,4-decadienal, 2-methylbutanal, 2-acetyl-1-pyrroline, 1-octen-3-ol, and 1-octen-3-one.

Sorption of volatile flavor compounds by microcellular cereal starch.

Wheat starch based microcellular foam (MCF) forms of (dry) starch possess a significant percentage of micropores in the range of 5-14 A. The present study confirmed earlier preliminary studies that MCF starch (in a 0.25-1.0 mm diameter bead form) is effective in sorbing and lowering the headspace partial pressure of many volatile compounds in a manner similar (although less efficient) to that exhibited by other microcavity sorbants such as charcoal. It was found that the proportion of polar compounds sorbed was much greater than the proportion of nonpolar compounds. A major portion of the sorbed volatile compound was readily displaced from the MCF microcellular starch by the addition of water. These properties make this form of edible starch a potential useful carrier of flavor compounds for dried foods.

Analysis of Furaneol in tomato using dynamic headspace sampling with sodium sulfate.

High-flow dynamic headspace sampling with excess anhydrous sodium sulfate was found to be an effective method of isolating Furaneol from fresh tomatoes. Quantitative analysis was carried out by gas chromatography using maltol as internal standard. Furaneol was found in the highest concentrations (660-1100 ppb) in the summer crop of home-grown tomatoes and in some of the greenhouse hydroponically grown tomatoes, which are ripened on the plant before being transported to the supermarkets. Furaneol was found in the lowest concentrations (38-180 ppb) in the common ethylene-ripened, field-grown, supermarket tomatoes.

Volatile components of green walnut husks.

Volatiles were isolated from whole green mature walnuts (Hartley variety) with husks still intact using dynamic headspace sweeping with trapping on Tenax. A total of 45 volatile compounds were identified by GC-MS. Major volatiles identified included (E)-4, 8-dimethyl-1,3,7-nonatriene, pinocarvone, pinocarveol, myrtenal, myrtenol, (E,E)-4,8,12-trimethyl-1,3,7,11-tridecatetraene, caryophyllene epoxide, verbenol, verbenone, and terpinolene. Green walnuts that had been infested with codling moth showed appreciably higher amounts emitted for (E)-4,8-dimethyl-1,3,7-nonatriene, (E, E)-4,8,12-trimethyl-1,3,7,11-tridecatetraene, alpha- and beta-pinenes, sabinene, (E)-beta-ocimene, (E,E)-alpha-farnesene, and linalool. The infested nuts also emitted benzyl methyl ether, isobutyl cyanide, and 1-nitro-3-methylbutane, compounds not found with the healthy nuts. Volatiles from uninfested green walnuts at the maturity stage where the husk was just beginning to split were also analyzed and compared.

[An analysis of treatment of intravitreal lens fragments following phacoemulsification].

OBJECTIVE: To observe and evaluate the outcome of vitrectomy in the treatment of dropped lens fragments. METHOD: Retrospectively the authors reviewed and analyzed 58 cases of dropped lens fragments that were treated with vitrectomy from October 1992 to October 1995 in Royal Victoria Eye and Ear Hospital, Melbourne, Australia and followed for at least 3 months. RESULTS: At the last follow-up, the remained complications were cystoid macular edema in three cases (5.2%), retinal detachment in two cases (3.4%) and hypotony in one case (1.7%). Other complications were all resolved. The final vision was significantly better than that before vitrectomy. There were 38 eyes (65.5%) with final visual acuities of 0.5 or better, and only 6 eyes (6.9%) with < 0.05. CONCLUSION: Once the lens fragments are dropped into the vitreous during phacoemulsification, the ocular anterior segment should be properly managed, if possible intraocular lens is inserted, and then vitrectomy should be performed as soon as possible. Generally, with the above method good therapeutic effects can be obtained.

Endogenous endophthalmitis: 10-year experience at a tertiary referral centre.

PURPOSE: Endogenous endophthalmitis (EE) is a sight-threatening emergency and the aetiology is often multifactorial. Delayed diagnosis may exacerbate the poor visual prognosis. We describe the management and visual outcomes of EE presenting to a tertiary referral centre. PATIENTS AND METHODS: A prospective consecutive case series of 64 patients presenting with presumed EE from 1997 to 2007 to the Royal Victorian Eye and Ear Hospital were included. All data were collected in a standardized manner. Outcome measures included: visual acuity, microbial profiles, and vitrectomy rate. RESULTS: In total, 64 cases of EE were identified over the study period with a mean age of 57.5 years, and 53.5% were male. Presenting acuities ranged from Snellen 6/6 to no perception of light (NPL). Identifiable risk factors were present in 78.1%, with the majority related to intravenous drug abuse. A 64.1% culture positivity rate was recorded. A vitrectomy rate of 57, 56, and 21% was recorded in documented bacterial, fungal, and no growth cases, respectively. Final Snellen acuities ranged from 6/6 to NPL. A total of 5 out of 64 eyes were enucleated, of which 3 identified Klebsiella species. Better visual outcome was documented in fungal cases. CONCLUSION: EE is a serious ocular condition and has a varied aetiology. Visual outcomes are often poor, irrespective of the method of management. Fungal aetiology often confers a better prognosis, and vitrectomy is advocated for bacterial proven cases.

Lessons from the outbreak of food poisoning at Stanley Royd Hospital: what are health authorities doing now?

The committee of inquiry into the outbreak of food poisoning at Stanley Royd Hospital identified serious deficiencies in the management of the outbreak and urged all health authorities to learn from the incident and prepare adequate plans for dealing with any future outbreaks. A survey of district health authorities in England showed that most authorities do not yet have a written plan or that their plans are incomplete and inadequate. The appreciable resistance to such planning suggests that most health authorities would be unable to deal with outbreaks of food poisoning effectively and efficiently.