Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations

Objective: To describe the ocular phenotype in patients with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome (MIM#604292) and to determine the pathogenic basis of visual morbidity. Design: Retrospective case series. Participants: Nineteen families (23 patients) affected by EEC syndrome from the United Kingdom, Ireland, and Italy. Methods: General medical examination to fulfill the diagnostic criteria for EEC syndrome and determine the phenotypic severity. Mutational analysis of p63 was performed by polymerase chain reaction-based bidirectional Sanger sequencing. All patients with EEC syndrome underwent a complete ophthalmic examination and ocular surface assessment. Limbal stem cell deficiency (LSCD) was diagnosed clinically on the basis of corneal conjunctivalization and anatomy of the limbal palisades of Vogt. Impression cytology using immunofluorescent antibodies was performed in 1 individual. Histologic and immunohistochemical analyses were performed on a corneal button and corneal pannus from 2 EEC patients. Main Outcome Measures: The EEC syndrome phenotypic severity (EEC score), best-corrected Snellen visual acuity (decimal fraction), slit-lamp biomicroscopy, tear function index, tear breakup time, LSCD, p63 DNA sequence variants, impression cytology, and corneal histopathology. Results: Eleven heterozygous missense mutations in the DNA binding domain of p63 were identified in all patients with EEC syndrome. All patients had ocular involvement and the commonest was an anomaly of the meibomian glands and lacrimal drainage system defects. The major cause of visual morbidity was progressive LSCD, which was detected in 61% (14/23). Limbal stem cell deficiency was related to advancing age and caused a progressive keratopathy, resulting in a dense vascularized corneal pannus, and eventually leading to visual impairment. Histologic analysis and impression cytology confirmed LSCD. Conclusions: Heterozygous p63 mutations cause the EEC syndrome and result in visual impairment owing to progressive LSCD. There was no relationship of limbal stem cell failure with the severity of EEC syndrome, as classified by the EEC score, or the underlying molecular defect in p63. Financial Disclosure(s): The authors have no proprietary or commercial interest in any of the materials discussed in this article. © 2012 American Academy of Ophthalmology.

The establishment of a 3D breast photography service in medical illustration

This paper aims to describe the development of a 3D breast photography service managed by the Medical Illustration Department, in the Belfast Health and Social Care Trust, Northern Ireland. Dedicated 3D breast photography equipment was installed in Medical Illustration for 18 months. Women were referred for a variety of indications including pre- and post-surgical assessment. A dedicated 3D breast photography protocol was developed locally and this requires further refinement to allow reproducibility in other centres. There are image/data artefacts associated with this technology and special techniques are required to reduce these. Specialist software is necessary for clinicians and scientists to use 3D breast photography data in surgical planning and measurement of surgical outcome.

Special issue on design and programming of signal processors for multimedia communication:Special issue on design and programming of signal processors for multimedia communication

The technical challenges in the design and programming of signal processors for multimedia communication are discussed. The development of terminal equipment to meet such demand presents a significant technical challenge, considering that it is highly desirable that the equipment be cost effective, power efficient, versatile, and extensible for future upgrades. The main challenges in the design and programming of signal processors for multimedia communication are, general-purpose signal processor design, application-specific signal processor design, operating systems and programming support and application programming. The size of FFT is programmable so that it can be used for various OFDM-based communication systems, such as digital audio broadcasting (DAB), digital video broadcasting-terrestrial (DVB-T) and digital video broadcasting-handheld (DVB-H). The clustered architecture design and distributed ping-pong register files in the PAC DSP raise new challenges of code generation.

MIMO cooperative communication network design with relay selection and CSI feedback

In this paper, we investigate an amplify-and-forward (AF) multiple-input multiple-output - spatial division multiplexing (MIMO-SDM) cooperative wireless networks, where each network node is equipped with multiple antennas. In order to deal with the problems of signal combining at the destination and cooperative relay selection, we propose an improved minimum mean square error (MMSE) signal combining scheme for signal recovery at the destination. Additionally, we propose two distributed relay selection algorithms based on the minimum mean squared error (MSE) of the signal estimation for the cases where channel state information (CSI) from the source to the destination is available and unavailable at the candidate nodes. Simulation results demonstrate that the proposed combiner together with the proposed relay selection algorithms achieve higher diversity gain than previous approaches in both flat and frequency-selective fading channels.

Visual functioning and quality of life in the subfoveal radiotherapy study (SFRADS): SFRADS report 2

Aims: To determine whether or not self reported visual functioning and quality of life in patients with choroidal neovascularisation caused by age related macular degeneration (AMD) is better in those treated with 12 Gy external beam radiotherapy in comparison with untreated subjects. Methods: A multicentre single masked randomised controlled trial of 12 Gy of external beam radiation therapy (EBRT) delivered as 6x2 Gy fractions to the macula of an affected eye versus observation. Patients with AMD, aged 60 years or over, in three UK hospital units, who had subfoveal CNV and a visual acuity equal to or better than 6/60 (logMAR 1.0). Methods: Data from 199 eligible participants who were randomly assigned to 12 Gy teletherapy or observation were available for analysis. Visual function assessment, ophthalmic examination, and fundus fluorescein angiography were undertaken at baseline and at 3, 6, 12, and 24 months after study entry. To assess patient centred outcomes, subjects were asked to complete the Daily Living Tasks Dependent on Vision (DLTV) and the SF-36 questionnaires at baseline, 6, 12, and 24 months after enrolment to the study. Cross sectional and longitudinal analyses were conducted using arm of study as grouping variable. Regression analysis was employed to adjust for the effect of baseline co-variates on outcome at 12 months and 24 months. Results: Both control and treated subjects had significant losses in visual functioning as seen by a progressive decline in mean scores in the four dimensions of the DLTV. There were no statistically significant differences between treatment and control subjects in any of dimensions of the DLTV at 12 months or 24 months after study entry. Regression analysis confirmed that treatment status had no effect on the change in DLTV dimensional scores. Conclusions: The small benefits noted in clinical measures of vision in treated eyes did not translate into better self reported visual functioning in patients who received treatment when compared with the control arm. These findings have implications for the design of future clinical trials and studies.

Exploring eye movement analysis as a measure of selective visual attention in brain injured individuals

Primary Objective: To investigate the utility of using a new method of assessment for deficits in selective visual attention (SVA). Methods and Procedures: An independent groups design compared six participants with brain injuries with six participants from a non-brain injured control group. The Sensomotoric Instruments Eye Movement system with remote eye-tracking device (eye camera), and 2 sets of eight stimuli were employed to determine if the camera would be a sensitive discriminator of SVA in these groups. Main Outcomes and Results: The attention profile displayed by the brain injured group showed that they were slower, made more errors, were less accurate, and more indecisive than the control group. Conclusions: The utility of eye movement analysis as an assessment method was established, with implications for rehabilitation requiring further development. Key words: selective visual attention, eye movement analysis, brain injury

Formal and informal care utilisation amongst elderly persons with visual impairment.

OBJECTIVE: To examine the determinants of formal and informal care utilisation amongst persons with age-related macular degeneration (AMD). DESIGN: Cross-sectional hospital-based study. SETTING: Hospital eye clinic in Northern Ireland. PARTICIPANTS: 284 persons aged >or=50 years. MAIN OUTCOME MEASURES: Participants were questioned about their care, living arrangements, eyesight-related ability to self-care, and eyesight-related need to be more careful whilst undertaking everyday tasks. RESULTS: The percentage of older persons receiving formal and informal care rose with the level of visual impairment. 34.9% and 37.3% of those with no visual impairment received formal and informal care, respectively, compared with 51.6% and 69.9% of those with moderate visual impairment and 55.6% and 88.9% of those with severe visual impairment. Three factors (age, best corrected distance visual acuity in the better eye and living alone) were significant predictors (p

Using time-to-contact information to assess potential collision modulates both visual and temporal prediction networks

Accurate estimates of the time-to-contact (TTC) of approaching objects are crucial for survival. We used an ecologically valid driving simulation to compare and contrast the neural substrates of egocentric (head-on approach) and allocentric (lateral approach) TTC tasks in a fully factorial, event-related fMRI design. Compared to colour control tasks, both egocentric and allocentric TTC tasks activated left ventral premotor cortex/frontal operculum and inferior parietal cortex, the same areas that have previously been implicated in temporal attentional orienting. Despite differences in visual and cognitive demands, both TTC and temporal orienting paradigms encourage the use of temporally predictive information to guide behaviour, suggesting these areas may form a core network for temporal prediction. We also demonstrated that the temporal derivative of the perceptual index tau (tau-dot) held predictive value for making collision judgements and varied inversely with activity in primary visual cortex (V1). Specifically, V1 activity increased with the increasing likelihood of reporting a collision, suggesting top-down attentional modulation of early visual processing areas as a function of subjective collision. Finally, egocentric viewpoints provoked a response bias for reporting collisions, rather than no-collisions, reflecting increased caution for head-on approaches. Associated increases in SMA activity suggest motor preparation mechanisms were engaged, despite the perceptual nature of the task.

Gene-environment interactions and aging visual function: a classical twin study.

OBJECTIVE:
To elucidate the contribution of environmental versus genetic factors to the significant losses in visual function associated with normal aging.
DESIGN:
A classical twin study.
PARTICIPANTS:
Forty-two twin pairs (21 monozygotic and 21 dizygotic; age 57-75 years) with normal visual acuity recruited through the Australian Twin Registry.
METHODS:
Cone function was evaluated by establishing absolute cone contrast thresholds to flicker (4 and 14 Hz) and isoluminant red and blue colors under steady state adaptation. Adaptation dynamics were determined for both cones and rods. Bootstrap resampling was used to return robust intrapair correlations for each parameter.
MAIN OUTCOME MEASURES:
Psychophysical thresholds and adaptational time constants.
RESULTS:
The intrapair correlations for all color and flicker thresholds, as well as cone absolute threshold, were significantly higher in monozygotic compared with dizygotic twin pairs (P<0.05). Rod absolute thresholds (P = 0.28) and rod and cone recovery rate (P = 0.83; P = 0.79, respectively) did not show significant differences between monozygotic and dizygotic twins in their intrapair correlations, indicating that steady-state cone thresholds and flicker thresholds have a marked genetic contribution, in contrast with rod thresholds and adaptive processes, which are influenced more by environmental factors over a lifetime.
CONCLUSIONS:
Genes and the environment contribute differently to important neuronal processes in the retina and the role they may play in the decline in visual function as we age. Consequently, retinal structures involved in rod thresholds and adaptive processes may be responsive to appropriate environmental manipulation. Because the functions tested are commonly impaired in the early stages of age-related macular degeneration, which is known to have a multifactorial etiology, this study supports the view that pathogenic pathways early in the disease may be altered by appropriate environmental intervention.