Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219?kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype. (C) 2012 Wiley Periodicals, Inc.

A New Method to Predict the Epidemiology of Fungal Keratitis by Monitoring the Sales Distribution of Antifungal Eye Drops in Brazil

Purpose: Fungi are a major cause of keratitis, although few medications are licensed for their treatment. The aim of this study is to observe the variation in commercialisation of antifungal eye drops, and to predict the seasonal distribution of fungal keratitis in Brazil. Methods: Data from a retrospective study of antifungal eye drops sales from the only pharmaceutical ophthalmologic laboratory, authorized to dispense them in Brazil (Opthalmos) were gathered. These data were correlated with geographic and seasonal distribution of fungal keratitis in Brazil between July 2002 and June 2008. Results: A total of 26,087 antifungal eye drop units were sold, with a mean of 2.3 per patient. There was significant variation in antifungal sales during the year (p < 0.01). A linear regression model displayed a significant association between reduced relative humidity and antifungal drug sales (R-2 = 0.17, p < 0.01). Conclusions: Antifungal eye drops sales suggest that there is a seasonal distribution of fungal keratitis. A possible interpretation is that the third quarter of the year (a period when the climate is drier), when agricultural activity is more intense in Brazil, suggests a correlation with a higher incidence of fungal keratitis. A similar model could be applied to other diseases, that are managed with unique, or few, and monitorable medications to predict epidemiological aspects.

Alpha-band power in the left frontal cortex discriminates the execution of fixed stimulus during saccadic eye movement

Introduction: The saccadic paradigm has been used to investigate specific cortical networks involving attention. The behavioral and electrophysiological investigations of the SEM contribute significantly to the understanding of attentive patterns presented of neurological and psychiatric disorders and sports performance. Objective: The current study aimed to investigate absolute alpha power changes in sensorimotor brain regions and the frontal eye fields during the execution of a saccadic task. Methods: Twelve healthy volunteers (mean age: 26.25; SD: +/- 4.13) performed a saccadic task while the electroencephalographic signal was simultaneously recorded for the cerebral cortex electrodes. The participants were instructed to follow the LEDs with their eyes, being submitted to two different task conditions: a fixed pattern versus a random pattern. Results: We found a moment main effect for the C3, C4, F3 and F4 electrodes and a condition main effect for the F3 electrode. We also found interaction between factor conditions and frontal electrodes. Conclusions: We conclude that absolute alpha power in the left frontal cortex discriminates the execution of the two stimulus presentation patterns during SEM. (C) 2012 Elsevier Ireland Ltd. All rights reserved.

Eye enucleation activates the transcription nuclear factor kappa-B in the rat superior colliculus

Ocular enucleation produces significant morphological and physiological changes in central visual areas. However, our knowledge of the molecular events resulting from eye enucleation in visual brain areas remains elusive. We characterized here the transcription nuclear factor kappa-B (NF-kappa B) activation induced by ocular enucleation in the rat superior colliculus (SC). We also tested the effectiveness of the synthetic glucocorticoid dexamethasone in inhibiting its activation. Electrophoretic mobility shift assays to detect NF-kappa B indicated that this transcription factor is activated in the SC from 1 h to day 15 postlesion. The expression of p65 and p50 proteins in the nuclear extracts was also increased. Dexamethasone treatment was able to significantly inhibit NF-kappa B activation. These findings suggest that this transcriptional factor is importantly involved in the visual system short-term processes that ensue after retinal lesions in the adult brain. (C) 2012 Elsevier Ireland Ltd. All rights reserved.

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter -> q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling. Copyright (C) 2012 S. Karger AG, Basel

Cosmetic Orbital Inferomedial Decompression: Quantifying the Risk of Diplopia Associated With Extraocular Muscle Dimensions

Purpose: To quantify the risk of new diplopia in inferomedial orbital decompression performed for cosmetic reasons. Methods: Retrospective analysis of 114 patients with Graves orbitopathy who underwent an inferomedial orbital decompression. No patient had diplopia in any of the gaze positions or optic neuropathy. A single coronal slice 9 mm posterior to the lateral orbital rim was employed to quantify the muscular index of the extraocular recti and of the superior complex. A control group of 56 patients imaged for other reasons were also measured. After surgery the oculomotor status of all patients who complained of diplopia and of 51 patients free of diplopia was measured with the prism and cover test in the primary and secondary gaze positions. Results: The rate of new-onset diplopia was 14.0% (16 patients). Eye deviations were confirmed in 14 patients. Of these, 10 had significant strabismus that warranted surgical or prism treatment. Most patients had esotropia associated with small vertical deviations. The size of the medial and inferior recti was significantly associated with the development of diplopia. The estimated odds for the appearance of diplopia in patients with muscle enlargement was 12.76 (medial rectus) and 5.21 (inferior rectus). Small-angle deviations were also detected in 27.4% of patients who did not experience diplopia. Conclusions: Medial and inferior recti enlargement is a strong predictor of new-onset diplopia. A large number of patients who do not report diplopia also present with small-angle deviations. (Ophthal Plast Reconstr Surg 2012;28:204-207)

Clinical Treatment of Dry Eye Using 0.03% Tacrolimus Eye Drops

Purpose: To report the clinical outcome of the treatment of dry eyes using 0.03% tacrolimus eye drops (olive oil + tacrolimus 0.03%) (Ophthalmos, Sao Paulo, Brazil). Methods: Sixteen eyes of 8 patients with Sjogren syndrome dry eyes (age, 51.13 +/- 9.45 years) were enrolled in this study (prospective noncontrolled interventional case series). Patients were instructed to use topical 0.03% tacrolimus eye drops twice a day (every 12 hours) in the lower conjunctival sac. Schirmer I test, break-up time, corneal fluorescein, and rose bengal staining score were performed in all patients 1 day before, and 14, 28, and 90 days after treatment with 0.03% tacrolimus eye drops. Results: The average fluorescein staining and rose bengal staining scores improved statistically significantly after 14 days of treatment and improved even more after 28 and 90 days. The average Schirmer I test did not improve statistically significantly after 28 days of treatment, although we did observe a significant improvement after 90 days of treatment with 0.03% tacrolimus eye drops. The average break-up time did not improve statistically after 14 days of treatment, although we observed a significant improvement after 28 and 90 days of treatment with 0.03% tacrolimus eye drops. Conclusions: Topical 0.03% tacrolimus eye drops successfully improved tear stability and ocular surface status in patients with dry eyes.

A clinical comparison between DisCoVisc and 2% hydroxypropylmethylcellulose in phacoemulsification: a fellow eye study

OBJECTIVE: This study sought to compare the effects and outcomes of two ophthalmic viscosurgical devices, 1.6% hyaluronic acid/4.0% chondroitin sulfate and 2.0% hydroxypropylmethylcellulose, during phacoemulsification. METHODS: This prospective, randomized clinical trial comprised 78 eyes (39 patients) that received phacoemulsification performed by the same surgeon using a standardized technique. Patients were randomly assigned to receive either 1.6% hyaluronic acid/4.0% chondroitin sulfate or 2.0% hydroxypropylmethylcellulose on the first eye. The other eye was treated later and received the other viscoelastic agent. Preoperative and postoperative examinations (5, 24 and 48 hours; 7 and 14 days; 3 and 6 months) included measurements of the total volume of the ophthalmic viscosurgical device, ultrasound and washout times to completely remove the ophthalmic viscosurgical device, intraocular pressure, central corneal thickness and best-corrected visual acuity. The corneal endothelial cell count was measured at baseline and at six months postoperatively. ClinicalTrials.gov: NCT01387620. RESULTS: There were no statistically significant differences between groups in terms of cataract density or ultrasound time. However, it took longer to remove 2.0% hydroxypropylmethylcellulose than 1.6% hyaluronic acid/ 4.0% chondroitin sulfate, and the amount of viscoelastic material used was greater in the 2.0% hydroxypropylmethylcellulose group. In addition, the best-corrected visual acuity was significantly better in the hyaluronic acid/ chondroitin sulfate group, but this preferable outcome was only observed at 24 hours after the operation. There were no statistically significant differences between the two ophthalmic viscosurgical devices regarding the central corneal thickness or intraocular pressure measurements at any point in time. The corneal endothelial cell count was significantly higher in the hyaluronic acid/chondroitin sulfate group. CONCLUSION: The ophthalmic viscosurgical device consisting of 1.6% hyaluronic acid/4.0% chondroitin sulfate was more efficient during phacoemulsification and was easier to remove after IOL implantation than 2.0% hydroxypropylmethylcellulose. In addition, the corneal endothelial cell count was significantly higher following the use of hyaluronic acid/chondroitin sulfate than with hydroxypropylmethylcellulose, which promoted an improved level of corneal endothelium protection.

Voyages as exercises of the gaze

This article focuses the relationship between journeys and photographs especially among anthropologists who travel. Having travelled to the Upper Negro River as an advisor of a PhD student, I discuss what digital photographs may mean in a context where verbal communication is impossible. Real or imaginary journeys are a source of images, reports, or travel logs in which it is difficult to discern what is real and what is fiction. After discussing a few famous scientific and literary journeys, the article focuses on some anthropological journeys and concludes that images produced by anthropologists are a result of trained intuition, a sensitive gaze, and memories of former travels. The article includes photographic essays that incorporate pictures I took in February 2012 among the Hupd'äh, in the Upper Negro River region.

Dangerous waters: outbreak of eye lesions caused by fresh water sponge spicules

Purpose To describe an extremely uncommon outbreak of eye lesions in a specific area of the Brazilian Amazonia. Methods Prospective noncomparative case series. Fifty-nine patients who developed eye lesions after swimming in the Araguaia river of Tocantins state in Brazil were examined. A team of ophthalmologists equipped with a slit-lamp, gonioscopic lenses, and indirect ophthalmoscopy performed full eye examination. Analysis of the flora and fauna of the river water was undertaken by a group of experts. Results and Conclusions Eighty-three eyes were affected. The most common lesions were corneal opacities seen in 34 eyes and conjunctival nodules diagnosed in 12 eyes. Severe visual acuity loss was detected in seven children with unilateral anterior chamber lesions. Spicules of the sponge species Drulia uruguayensis and Drulia ctenosclera were found inside three blind eyes that have been enucleated for diagnostic purposes. All eye lesions could be attributed to an outbreak of foreign bodies from fresh water sponges. Organic enrichment of the water resulting from the absence of sanitation probably was the key factor, which initiated a cycle of ecological imbalance that provoked human disease.

Inflammatory responses in the rat superior colliculus after eye enucleation

Ocular enucleation induces profound morphological alterations in central visual areas. However, little is known about the response of glial cells and possible inflammatory processes in visual brain areas resulting from eye enucleation. In this study, immunoblotting and immunostaining assays revealed increased expression of astrocyte and microglia markers in the rat superior colliculus (SC) between 1 and 15 days after contralateral enucleation. A transient increase of neuronal COX-2 protein expression was also found in the SC. To evaluate the role of an anti-inflammatory drug in attenuating both COX-2 and glial cell activation, the synthetic glucocorticoid dexamethasone (DEX) was administered (1mg/kg i.p., for 3 days) to enucleated rats. Immunoblotting data revealed that DEX treatment significantly inhibited COX-2 protein expression. Postlesion immunostaining for astrocyte and microglia markers was also significantly reduced by DEX treatment. These findings suggest that the removal of retinal ganglion cell input generates inflammatory responses in central retinorecipient structures

Importance of dietary n-3 hufa for eye development and cone formation along gilthead seabream sparus aurata larval development.

[EN] Being fish larvae visual feeders, vision plays an important role in larval orientation at first feeding (Blaxter, 1986). Larval trophic behaviour is closely related with the development of the visual capacity, which directly depends on retina organogenesis. In sparids, such as Pagrus major (Kawamura, 1984) and Pagrus auratus (Pankhurst, 1996), the most important changes in the eye structure occur along the lecitotrophic stage as a preparation for prey capture. Neuringer et al.,(1988) has established a critical role for n-3 polyunsaturated fatty acids and, particularly docosahexaenoic acid (DHA) in neural and retinal tissue functions in mammals. Similarly, in larval fish there is a high demand of DHA to form nervous membranes. Bell and Dick (1993) found photoreceptors in the eye, rods and cones accumulate and selectively retain DHA in external segments.Bell et al. (1995) found that feeding juvenile herring a DHA poor Artemia diet during the period of rod development resulted in impaired vision at low light intensities, when rod vision is essential.

Central autonomic control in spontaneously hypertensive rats: a study on phasic phenomena during rapid-eye-movement sleep

The cardiovascular regulation undergoes wide changes in the different states of sleepwake cycle. In particular, the relationship between spontaneous fluctuations in heart period and arterial pressure clearly shows differences between the two sleep states. In non rapid-eye-movement sleep, heart rhythm is under prevalent baroreflex control, whereas in rapid-eye-movement sleep central autonomic commands prevail (Zoccoli et al., 2001). Moreover, during rapid-eye-movement sleep the cardiovascular variables show wide fluctuations around their mean value. In particular, during rapid-eyemovement sleep, the arterial pressure shows phasic hypertensive events which are superimposed upon the tonic level of arterial pressure. These phasic increases in arterial pressure are accompanied by an increase in heart rate (Sei & Morita, 1996; Silvani et al., 2005). Thus, rapid-eye-movement sleep may represent an “autonomic stress test” for the cardiovascular system, able to unmask pathological patterns of cardiovascular regulation (Verrier et al. 2005), but this hypothesis has never been tested experimentally. The aim of this study was to investigate whether rapid-eye-movement sleep may reveal derangements in central autonomic cardiovascular control in an experimental model of essential hypertension. The study was performed in Spontaneously Hypertensive Rats, which represent the most widely used model of essential hypertension, and allow full control of genetic and environmental confounding factors. In particular, we analyzed the cardiovascular, electroencephalogram, and electromyogram changes associated with phasic hypertensive events during rapid-eyemovement sleep in Spontaneously Hypertensive Rats and in their genetic Wistar Kyoto control strain. Moreover, we studied also a group of Spontaneously Hypertensive Rats made phenotypically normotensive by means of a chronic treatment with an angiotensin converting enzyme inhibitor, the Enalapril maleate, from the age of four weeks to the end of the experiment. All rats were implanted with electrodes for electroencephalographic and electromyographic recordings and with an arterial catheter for arterial pressure measurement. After six days for postoperative recovery, the rats were studied for five days, at an age of ten weeks.The study indicated that the peak of mean arterial pressure increase during the phasic hypertensive events in rapid-eye-movement sleep did not differ significantly between Spontaneously Hypertensive Rats and Wistar Kyoto rats, while on the other hand Spontaneously Hypertensive Rats showed a reduced increase in the frequency of theta rhythm and a reduced tachicardia with respect to Wistar Kyoto rats. The same pattern of changes in mean arterial pressure, heart period, and theta frequency was observed between Spontaneously Hypertensive Rats and Spontaneously Hypertensive Rats treated with Enalapril maleate. Spontaneously Hypertensive Rats do not differ from Wistar Kyoto rats only in terms of arterial hypertension, but also due to multiple unknown genetic differences. Spontaneously Hypertensive Rats were developed by selective breeding of Wistar Kyoto rats based only on the level of arterial pressure. However, in this process, multiple genes possibly unrelated to hypertension may have been selected together with the genetic determinants of hypertension (Carley et al., 2000). This study indicated that Spontaneously Hypertensive Rats differ from Wistar Kyoto rats, but not from Spontaneously Hypertensive Rats treated with Enalapril maleate, in terms of arterial pH and theta frequency. This feature may be due to genetic determinants unrelated to hypertension. In sharp contrast, the persistence of differences in the peak of heart period decrease and the peak of theta frequency increase during phasic hypertensive events between Spontaneously Hypertensive Rats and Spontaneously Hypertensive Rats treated with Enalapril maleate demonstrates that the observed reduction in central autonomic control of the cardiovascular system in Spontaneously Hypertensive Rats is not an irreversible consequence of inherited genetic determinants. Rather, the comparison between Spontaneously Hypertensive Rats and Spontaneously Hypertensive Rats treated with Enalapril maleate indicates that the observed differences in central autonomic control are the result of the hypertension per se. This work supports the view that the study of cardiovascular regulation in sleep provides fundamental insight on the pathophysiology of hypertension, and may thus contribute to the understanding of this disease, which is a major health problem in European countries (Wolf-Maier et al., 2003) with its burden of cardiac, vascular, and renal complications.

Face and eye detection on hard datasets

[EN] This paper analyzes the detection and localization performance of the participating face and eye algorithms compared with the Viola Jones detector and four leading commercial face detectors. Performance is characterized under the different conditions and parameterized by per-image brightness and contrast. In localization accuracy for eyes, the groups/companies focusing on long-range face detection outperform leading commercial applications.

Visual scanning in sports actions: comparison between soccer goalkeepers and judo fighters

Visual search and oculomotor behaviour are believed to be very relevant for athlete performance, especially for sports requiring refined visuo-motor coordination skills. Modern coaches believe that a correct visuo-motor strategy may be part of advanced training programs. In this thesis two experiments are reported in which gaze behaviour of expert and novice athletes were investigated while they were doing a real sport specific task. The experiments concern two different sports: judo and soccer. In each experiment, number of fixations, fixation locations and mean fixation duration (ms) were considered. An observational analysis was done at the end of the paper to see perceptual differences between near and far space. Purpose: The aim of the judo study was to delineate differences in gaze behaviour characteristics between a population of athletes and one of non athletes. Aspects specifically investigated were: search rate, search order and viewing time across different conditions in a real-world task. The second study was aimed at identifying gaze behaviour in varsity soccer goalkeepers while facing a penalty kick executed with instep and inside foot. Then an attempt has been done to compare the gaze strategies of expert judoka and soccer goalkeepers in order to delineate possible differences related to the different conditions of reacting to events occurring in near (peripersonal) or far (extrapersonal) space. Judo Methods: A sample of 9 judoka (black belt) and 11 near judoka (white belt) were studied. Eye movements were recorded at 500Hz using a video based eye tracker (EyeLink II). Each subject participated in 40 sessions for about 40 minutes. Gaze behaviour was considered as average number of locations fixated per trial, the average number of fixations per trial, and mean fixation duration. Soccer Methods: Seven (n = 7) intermediate level male volunteered for the experiment. The kickers and goalkeepers, had at least varsity level soccer experience. The vision-in-action (VIA) system (Vickers 1996; Vickers 2007) was used to collect the coupled gaze and motor behaviours of the goalkeepers. This system integrated input from a mobile eye tracking system (Applied Sciences Laboratories) with an external video of the goalkeeper’s saving actions. The goalkeepers took 30 penalty kicks on a synthetic pitch in accordance with FIFA (2008) laws. Judo Results: Results indicate that experts group differed significantly from near expert for fixations duration, and number of fixations per trial. The expert judokas used a less exhaustive search strategy involving fewer fixations of longer duration than their novice counterparts and focused on central regions of the body. The results showed that in defence and attack situation expert group did a greater number of transitions with respect to their novice counterpart. Soccer Results: We found significant main effect for the number of locations fixated across outcome (goal/save) but not for foot contact (instep/inside). Participants spent more time fixating the areas in instep than inside kick and in goal than in save situation. Mean and standard error in search strategy as a result of foot contact and outcome indicate that the most gaze behaviour start and finish on ball interest areas. Conclusions: Expert goalkeepers tend to spend more time in inside-save than instep-save penalty, differences that was opposite in scored penalty kick. Judo results show that differences in visual behaviour related to the level of expertise appear mainly when the test presentation is continuous, last for a relatively long period of time and present a high level of uncertainty with regard to the chronology and the nature of events. Expert judoist performers “anchor” the fovea on central regions of the scene (lapel and face) while using peripheral vision to monitor opponents’ limb movements. The differences between judo and soccer gaze strategies are discussed on the light of physiological and neuropsychological differences between near and far space perception.