Poems

Poems include: 5th Ave.--New York City, by Edwina Hearn, Trenchcoated and Delivered, by Erika T. Lersch, and Blue, by Michael Anthony Moor

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study

7 páginas, 7 figuras, 4 tablas.-- Licence Creative Commons, attribution, Non-commercial licence.-- et al.Twenty five symptomatic individuals and six asymptomatic obligate gene carriers from four families with autosomal dominant retinitis pigmentosa (adRP) showing apparent incomplete penetrance have been studied. Symptomatic individuals from three families showed early onset of night blindness, non-recordable rod electroretinograms, and marked elevation of both rod and cone thresholds in all subjects tested. In the fourth family, there was more variation in the age of onset of night blindness and some symptomatic individuals showed well preserved rod and cone function in some retinal areas. All asymptomatic individuals tested had evidence of mild abnormalities of rod and cone function, indicating that these families show marked variation in expressivity rather than true non-penetrance of the adRP gene. No mutations of the rhodopsin or RDS genes were found in these families and the precise genetic mutation(s) remain to be identified.This study was supported by the Medical Research Council (UK), The Weilcome Trust, British Retinitis Pigmentosa Society, and the National Retinitis Pigmentosa Society, Fighting Blindness, USA.Peer reviewe

Blue cone monochromacy: causative mutations and associated phenotypes.

PurposeTo perform a phenotypic assessment of members of three British families with blue cone monochromatism (BCM), and to determine the underlying molecular genetic basis of disease.MethodsAffected members of three British families with BCM were examined clinically and underwent detailed electrophysiological and psychophysical testing. Blood samples were taken for DNA extraction. Molecular analysis involved the amplification of the coding regions of the long (L) and medium (M) wave cone opsin genes and the upstream locus control region (LCR) by polymerase chain reaction (PCR). Gene products were directly sequenced and analyzed.ResultsIn all three families, genetic analysis identified that the underlying cause of BCM involved an unequal crossover within the opsin gene array, with an inactivating mutation. Family 1 had a single 5'-L-M-3' hybrid gene, with an inactivating Cys203Arg (C203R) mutation. Family 3 had an array composed of a C203R inactivated 5'-L-M-3' hybrid gene followed by a second inactive gene. Families 1 and 3 had typical clinical, electrophysiological, and psychophysical findings consistent with stationary BCM. A novel mutation was detected in Family 2 that had a single hybrid gene lacking exon 2. This family presented clinical and psychophysical evidence of a slowly progressive phenotype.ConclusionsTwo of the BCM-causing family genotypes identified in this study comprised different hybrid genes, each of which contained the commonly described C203R inactivating mutation. The genotype in the family with evidence of a slowly progressive phenotype represents a novel BCM mutation. The deleted exon 2 in this family is not predicted to result in a shift in the reading frame, therefore we hypothesize that an abnormal opsin protein product may accumulate and lead to cone cell loss over time. This is the first report of slow progression associated with this class of mutation in the L or M opsin genes in BCM

Retinal Architecture in ​\u3cem\u3eRGS9-\u3c/em\u3e and ​\u3cem\u3eR9AP\u3c/em\u3e-Associated Retinal Dysfunction (Bradyopsia)

Purpose To characterize photoreceptor structure and mosaic integrity in subjects with RGS9- and R9AP-associated retinal dysfunction (bradyopsia) and compare to previous observations in other cone dysfunction disorders such as oligocone trichromacy. Design Observational case series. Methods setting: Moorfields Eye Hospital (United Kingdom) and Medical College Wisconsin (USA). study population: Six eyes of 3 subjects with disease-causing variants in RGS9 or R9AP. main outcome measures: Detailed retinal imaging using spectral-domain optical coherence tomography and confocal adaptive-optics scanning light ophthalmoscopy. Results Cone density at 100 μm from foveal center ranged from 123 132 cones/mm2to 140 013 cones/mm2. Cone density ranged from 30 573 to 34 876 cones/mm2 by 600 μm from center and from 15 987 to 16,253 cones/mm2 by 1400 μm from center, in keeping with data from normal subjects. Adaptive-optics imaging identified a small, focal hyporeflective lesion at the foveal center in both eyes of the subject with RGS9-associated disease, corresponding to a discrete outer retinal defect also observed on spectral-domain optical coherence tomography; however, the photoreceptor mosaic remained intact at all other observed eccentricities. Conclusions Bradyopsia and oligocone trichromacy share common clinical symptoms and cannot be discerned on standard clinical findings alone. Adaptive-optics imaging previously demonstrated a sparse mosaic of normal wave-guiding cones remaining at the fovea, with no visible structure outside the central fovea in oligocone trichromacy. In contrast, the subjects presented in this study with molecularly confirmed bradyopsia had a relatively intact and structurally normal photoreceptor mosaic, allowing the distinction between these disorders based on the cellular phenotype and suggesting different pathomechanisms

Parallel factor analysis of 4.2K excitation-emission matrices for the direct determination of dibenzopyrene isomers in coal-tar samples with a cryogenic fiber optic probe coupled to a commercial spectrofluorimeter

Several studies have shown high concentrations of polycyclic aromatic hydrocarbons (PAHs) in living spaces and soil adjacent to parking lots sealed with coal-tar-based products. Recent attention has been paid to the presence of seven PAHs in coal-tar samples ? namely, benz[a]anthracene, benzo[k]-fluoranthene, benzo[b]fluoranthene, benzo[a]pyrene, chrysene, dibenz[a,h]anthracene, and indeno[1,2,3-cd]pyrene ? and their association to significant increases in estimated excess lifetime cancer risk for nearby residents. Herein, we present an analytical approach to screen the presence of five highly toxic, high-molecular weight PAHs (HMW-PAHs) in coal-tar samples. These include dibenzo[a,l]pyrene, dibenzo[a,i]pyrene, dibenzo[a,e]pyrene, dibnezo[a,h]pyrene and naphtho[2,3-a]pyrene. Their direct analysis ? no without chromatographic separation ? - in a reference coal-tar sample is made possible with the combination of excitation-emission matrices (EEMs) and parallel-factor analysis (PARAFAC). EEMs are recorded at 4.2 K with the aid of a cryogenic fiber optic probe and a commercial spectrofluorimeter. The simplicity of the experimental procedure and the excellent analytical figures of merit demonstrate the screening potential of this environmentally friendly approach for the routine analysis of numerous coal-tar samples.Fil: Moore, Anthony F. T.. University of Central Florida; Estados UnidosFil: Goicoechea, Hector Casimiro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Santa Fe; Argentina. Universidad Nacional del Litoral. Facultad de Bioquímica y Ciencias Biológicas; ArgentinaFil: Barbosa, Fernando Jr.. Universidade de Sao Paulo; BrasilFil: Campiglia, Andres D.. University of Central Florida; Estados Unido

Spatial repellency of transfluthrin-treated hessian strips against laboratory-reared Anopheles arabiensis mosquitoes in a semi-field tunnel cage

BACKGROUND: Vapour phase spatial repellents deter mosquitoes from attacking one or more humans in a protected space. Simulation models indicate that high coverage of spatial repellents can enhance the impact of long - lasting insecticide nets (LLINs) and indoor residual spraying (IRS) where mosquito vectors commonly bite humans outdoors. Here we report a preliminary evaluation of an effective, user-friendly prototype product for delivering spatial repellents to protect against malaria vector mosquitoes. FINDINGS: Protective efficacy of a 4.0 × 0.3 m strip of hessian sacking treated with 10 ml of transfluthrin was evaluated in a 60 m × 2 m × 2.5 m netting tunnel with malaria-free insectary-reared Anopheles arabiensis Patton mosquitoes. Personal protection, in terms of proportional reduction of exposure to bites, was measured by comparing human landing catches of volunteers with treated and untreated strips. A freshly treated hessian strip reduced mosquito attack rate on human volunteers by > 99% and consistently conferred > 90% protective efficacy for a period of 6 months. Over the entire study period, only 22 out of 1400 released mosquitoes bit volunteers using the treated sacking strip while 894 out of 1400 mosquitoes released into cages containing volunteers using an untreated strip fed upon them. CONCLUSION: Locally available natural fibers may be promising absorbent substrates for delivering spatial repellents, such as transfluthrin, to protect against mosquitoes in tropical settings. However, these observations relate to a single prototype specimen of this particular device, therefore, much more detailed, well replicated studies are essential to establish long-term efficacy, effectiveness, practicability and affordability