Yang, Q Y; Xu, X R; Jiao, J; Zheng, Y X; He, L H; Yu, S F; Gu, G Z; Chen, G S; Zhou, W H; Wu, H; Li, Y H; Zhang, H L; Zhang, Z R
Objective: To identify the association between genetic polymorphisms in the eye absent homolog 4 (EYA4) gene and noise-induced hearing loss (NIHL). Method: A nested case control study was conducted based on a cohort of noise-exposed subjects. In total, 292 cases were selected from a steel factory from 6 297 subjects during Jan 1, 2006 to Dec 12, 2015,who had an average hearing threshold of more than 40 dB(A); 584 matched control subjects for each case were designated on the basis of matched criteria including same gender, age (±5 years) and duration of exposure to noise (±2 years). What's more, the control group had an average hearing threshold of less than 35 dB(A) in high frequency and less than 25 dB(A) in speech frequency. Four single nucleotide polymorphisms (SNPs) of the EYA4 gene were genotyped using a SNPscan TM multiplex SNP genotyping kit. Hardy-Weinberg equilibrium tests were performed using a χ 2 test for goodness-of-fit for each SNP among the control group, and the effects of genotypes of the EYA4 gene on NIHL were analyzed by logistic regression. The haplotypes were established and their frequencies in the two groups were assessed using Haploview 4.2 and Phase 2.1 software, and interactive effects between haplotypes and cumulative noise exposure were analyzed. Results: The average age of the subjects was (40.1±8.4) years and the average number of noise-exposed working years was 20.3 (8.4, 27.3) years. The range of noise exposure levels and the cumulative noise exposure were 80.2- 98.8 dB (A) and 86.6- 111.2 dB(A) · year, respectively. After adjustment for covariates including height, blood pressure, drinking status and smoking status, in the noise intensity>85 dB (A) group, subjects carrying the rs3813346 TT genotype had a higher NIHL risk than those carrying the GG genotype, and the adjusted OR (95% CI ) value was 2.12 (1.21- 3.69). In the cumulative noise exposure>98 dB (A) · year group, compared with haplotype TGC, haplotype CGT showed a
Neuman, Sarah D.; Bashirullah, Arash; Kumar, Justin P.
The eyes absent (eya) gene of the fruit fly, Drosophila melanogaster, is a member of an evolutionarily conserved gene regulatory network that controls eye formation in all seeing animals. The loss of eya leads to the complete elimination of the compound eye while forced expression of eya in non-retinal tissues is sufficient to induce ectopic eye formation. Within the developing retina eya is expressed in a dynamic pattern and is involved in tissue specification/determination, cell proliferation, apoptosis, and cell fate choice. In this report we explore the mechanisms by which eya expression is spatially and temporally governed in the developing eye. We demonstrate that multiple cis-regulatory elements function cooperatively to control eya transcription and that spacing between a pair of enhancer elements is important for maintaining correct gene expression. Lastly, we show that the loss of eya expression in sine oculis (so) mutants is the result of massive cell death and a progressive homeotic transformation of retinal progenitor cells into head epidermis. PMID:27930646
Matineh Barati Bagerabad
Full Text Available The aim of this study was to investigate whether hypermethylation of Eyes Absent 4 (EYA4 is also implicated in Iranian Colorectal Cancer (CRC patients or not. From fresh frozen tissues, samples from 38 paired (cancer and normal CRC tissue specimens were used in this study, the DNA was isolated, sodium bisulfite treated and analyzed by methylation-specific polymerase (MSP chain reaction using primers specific for unmethylated or methylated promoter sequences of the EYA4 gene. We also analyzed EYA4 mRNA expression using real time RT-PCR. Demographic characteristics of these patients including age, sex, tumor grade, location, stage, and TNM classification were evaluated and the relationship between methylation status of the gene and clinicopathological features was analyzed. Current study indicated that EYA4 promoter hypermethylation has a sensitivity of 81.57% and specificity of 78.94%. Findings showed lower expression of EYA-4 in methylated samples in comparison with its normal adjacent tissue, although it was not significant (P>0.05. No significant associations were observed between EYA4 hypermethylation and the clinicopathological characteristics. Although the clinical patient outcome of our 38 CRC patients was not associated with EYA4 promoter hypermethylation, the high frequency of this methylation and its high sensitivity and specificity to neoplastic cells may qualify EYA4 promoter methylation as a potential candidate screening marker in Iranian population and may help to improve early detection of CRC.
Conclusions: Our study identified EYA4 gene as targets for AML1-ETO and indicated it as a novel tumor suppressor gene. In addition, we provided evidence that EYA4 gene might be a novel therapeutic target and a potential candidate for treating AML1-ETO+ t (8;21 AML.
U.S. Department of Health & Human Services — The eyeGENE® Biorepository and corresponding Database contain family history and clinical eye exam data from subjects enrolled in eyeGENE® Program coupled to...
Rosa de Hoz
Full Text Available In the mouse model of unilateral laser-induced ocular hypertension (OHT the microglia in both the treated and the normotensive untreated contralateral eye have morphological signs of activation and up-regulation of MHC-II expression in comparison with naïve. In the brain, rod-like microglia align to less-injured neurons in an effort to limit damage. We investigate whether: i microglial activation is secondary to laser injury or to a higher IOP and; ii the presence of rod-like microglia is related to OHT. Three groups of mice were used: age-matched control (naïve, n=15; and two lasered: limbal (OHT, n=15; and non-draining portion of the sclera (scleral, n=3. In the lasered animals, treated eyes as well as contralateral eyes were analysed. Retinal whole-mounts were immunostained with antibodies against, Iba-1, NF-200, MHC-II, CD86, CD68 and Ym1. In the scleral group (normal ocular pressure no microglial signs of activation were found. Similarly to naïve eyes, OHT-eyes and their contralateral eyes had ramified microglia in the nerve-fibre layer related to the blood vessel. However, only eyes with OHT had rod-like microglia that aligned end-to-end, coupling to form trains of multiple cells running parallel to axons in the retinal surface. Rod-like microglia were CD68+ and were related to retinal ganglion cells (RGCs showing signs of degeneration (NF-200+RGCs. Although MHC-II expression was up-regulated in the microglia of the NFL both in OHT-eyes and their contralateral eyes, no expression of CD86 and Ym1 was detected in ramified or in rod-like microglia. After 15 days of unilateral lasering of the limbal and the non-draining portion of the sclera, activated microglia was restricted to OHT-eyes and their contralateral eyes. However, rod-like microglia were restricted to eyes with OHT and degenerated NF-200+RGCs and were absent from their contralateral eyes. Thus, rod-like microglia seem be related to the neurodegeneration associated with HTO.
Drew, Paul; Hepburn, Alexa
Absent apologies--apologies that were expected but are not forthcoming--are quite frequently identified and commented on, for instance in the media. In this article we discuss two kinds of evidence that apologies can be "noticeably" absent for participants in ordinary interactions. The first kind is the delays that can occur in the…
Thomas M. Brown
Full Text Available A yellow-eyed mutant was discovered in a strain of Heliothis virescens, the tobacco budworm, that already exhibited a mutation for yellow scale, y. We investigated the inheritance of these visible mutations as candidate markers for transgenesis. Yellow eye was controlled by a single, recessive, autosomal factor, the same type of inheritance previously known for y. Presence of the recombinant mutants with yellow scales with wild type eyes in test crosses indicated independent segregation of genes for these traits. The recombinant class with wild type scales and yellow eyes was completely absent and there was a corresponding increase of the double mutant parental class having yellow scales and yellow eyes. These results indicated that a single factor for yellow eye also controls yellow scales independently of y. This gene was named yes, for yellow eye and scale. We hypothesize that yes controls both eye and scale color through a deficiency in transport of pigment precursors in both the ommochrome and melanin pathways. The unlinked gene y likely controls an enzyme affecting the melanin pathway only. Both y and yes segregated independently of AceIn, acetylcholinesterase insensitivity, and sodium channel hscp, which are genes related to insecticide resistance.
Slavotinek, Anne M.
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33–95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, Oculocardiafaciodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6. PMID:22005280
Yu, Linlin; Zhou, Qingxiang; Pignoni, Francesca
The Gal4/UAS system is one of the most powerful tools for the study of cellular and developmental processes in Drosophila. Gal4 drivers can be used to induce targeted expression of dominant-negative and dominant-active proteins, histological markers, activity sensors, gene-specific dsRNAs, modulators of cell survival or proliferation, and other reagents. Here, we describe novel atonal-Gal4 lines that contain regions of the regulatory DNA of atonal, the proneural gene for photoreceptors, stretch receptors, auditory organ, and some olfactory sensilla. During neurogenesis, the atonal gene is expressed at a critical juncture, a time of transition from progenitor cell to developing neuron. Thus, these lines are particularly well suited for the study of the transcription factors and signaling molecules orchestrating this critical transition. To demonstrate their usefulness, we focus on two visual organs, the eye and the Bolwig. We demonstrate the induction of predicted eye phenotypes when expressing the dominant-negative EGF receptor or a dsRNA against Notch in the developing eye disc. In another example, we show the deletion of the Bolwig's organ using the proapoptotic factor Hid. Finally, we investigate the function of the eye specification factor Eyes absent or Eya in late retinal progenitors, shortly before they begin morphogenesis. We show that Eya is still required in these late progenitors to promote eye formation, and show failure to induce the target gene atonal and consequent lack of neuron formation. © 2015 Wiley Periodicals, Inc.
Roč. 15, č. 4 (2005), s. 430-438 ISSN 0959-437X R&D Projects: GA MŠk(CZ) 1M0520; GA ČR(CZ) GA204/04/1358 Institutional research plan: CEZ:AV0Z5052915 Keywords : paxpax * eye development * evolution Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.361, year: 2005
Full Text Available Caudal regression syndrome (CRS is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.
Baker, Richard H; Narechania, Apurva; Johns, Philip M; Wilkinson, Gerald S
Gene duplication provides an essential source of novel genetic material to facilitate rapid morphological evolution. Traits involved in reproduction and sexual dimorphism represent some of the fastest evolving traits in nature, and gene duplication is intricately involved in the origin and evolution of these traits. Here, we review genomic research on stalk-eyed flies (Diopsidae) that has been used to examine the extent of gene duplication and its role in the genetic architecture of sexual dimorphism. Stalk-eyed flies are remarkable because of the elongation of the head into long stalks, with the eyes and antenna laterally displaced at the ends of these stalks. Many species are strongly sexually dimorphic for eyespan, and these flies have become a model system for studying sexual selection. Using both expressed sequence tag and next-generation sequencing, we have established an extensive database of gene expression in the developing eye-antennal imaginal disc, the adult head and testes. Duplicated genes exhibit narrower expression patterns than non-duplicated genes, and the testes, in particular, provide an abundant source of gene duplication. Within somatic tissue, duplicated genes are more likely to be differentially expressed between the sexes, suggesting gene duplication may provide a mechanism for resolving sexual conflict.
Full Text Available To advance our understanding how the outer eye interacts with its environment, we asked which cellular receptors are expressed in the cornea, focusing on G protein-coupled receptors.Total RNA from the mouse cornea was subjected to next-generation sequencing using the Illumina platform. The data was analyzed with TopHat and CuffLinks software packages. Expression of a representative group of genes detected by RNA-seq was further analyzed by RT-PCR and in situ hybridization using RNAscope technology and fluorescent microscopy.We generated more than 46 million pair-end reads from mouse corneal RNA. Bioinformatics analysis revealed that the mouse corneal transcriptome reconstructed from these reads represents over 10,000 gene transcripts. We identified 194 GPCR transcripts, of which 96 were putative olfactory receptors. RT-PCR analysis confirmed the presence of several olfactory receptors and related genes, including olfactory marker protein and the G protein associated with olfaction, Gαolf. In situ hybridization showed that mRNA for olfactory marker protein, Gαolf and possibly some olfactory receptors were found in the corneal epithelial cells. In addition to the corneal epithelium, Gαolf was present in the ganglionic and inner nuclear layers of the retina. One of the olfactory receptors, Olfr558, was present primarily in vessels of the eye co-stained with antibodies against alpha-smooth muscle actin, indicating expression in arterioles.Several species of mRNA encoding putative olfactory receptors and related genes are expressed in the mouse cornea and other parts of the eye indicating they may play a role in sensing chemicals in the ocular environment.
Ogura, Atsushi; Ikeo, Kazuho; Gojobori, Takashi
Although the camera eye of the octopus is very similar to that of humans, phylogenetic and embryological analyses have suggested that their camera eyes have been acquired independently. It has been known as a typical example of convergent evolution. To study the molecular basis of convergent evolution of camera eyes, we conducted a comparative analysis of gene expression in octopus and human camera eyes. We sequenced 16,432 ESTs of the octopus eye, leading to 1052 nonredundant genes that have matches in the protein database. Comparing these 1052 genes with 13,303 already-known ESTs of the human eye, 729 (69.3%) genes were commonly expressed between the human and octopus eyes. On the contrary, when we compared octopus eye ESTs with human connective tissue ESTs, the expression similarity was quite low. To trace the evolutionary changes that are potentially responsible for camera eye formation, we also compared octopus-eye ESTs with the completed genome sequences of other organisms. We found that 1019 out of the 1052 genes had already existed at the common ancestor of bilateria, and 875 genes were conserved between humans and octopuses. It suggests that a larger number of conserved genes and their similar gene expression may be responsible for the convergent evolution of the camera eye. PMID:15289475
Na, Kyung-Sun; Mok, Jee-Won; Kim, Ja Yeon; Joo, Choun-Ki
Purpose To determine whether proinflammatory cytokine genes were potential susceptibility candidate genes for Korean patients with non-Sjogren dry eye, we investigated the association of the interleukin 1 beta (IL1B), interleukin 6 (IL6), and interleukin 6 receptor (IL6R) variations with this disease in Korean patients. Methods Genomic DNA was extracted from blood samples of unrelated non-Sjogren dry eye patients and healthy control individuals who visited the Eye Center and Health Promotion ...
Leemput, Julia; Masson, Christel; Bigot, Karine; Errachid, Abdelmounaim; Dansault, Anouk; Provost, Alexandra; Gadin, Stéphanie; Aoufouchi, Said; Menasche, Maurice; Abitbol, Marc
High levels of metabolism and oxygen consumption in most adult murine ocular compartments, combined with exposure to light and ultraviolet (UV) radiation, are major sources of oxidative stress, causing DNA damage in ocular cells. Of all mammalian body cells, photoreceptor cells consume the largest amount of oxygen and generate the highest levels of oxidative damage. The accumulation of such damage throughout life is a major factor of aging tissues. Several multiprotein complexes have recently been identified as the major sensors and mediators involved in the maintenance of DNA integrity. The activity of these complexes initially seemed to be restricted to dividing cells, given their ultimate role in major cell cycle checkpoints. However, it was later established that they are also active in post-mitotic cells. Recent findings demonstrate that the DNA damage response (DDR) is essential for the development, maintenance, and normal functioning of the adult central nervous system. One major molecular factor in the DDR is the protein, ataxia telangiectasia mutated (ATM). It is required for the rapid induction of cellular responses to DNA double-strand breaks. These cytotoxic DNA lesions may be caused by oxidative damage. To understand how ATM prevents oxidative stress and participates in the maintenance of genomic integrity and cell viability of the adult retina, we determined the ATM expression patterns and studied its localization in the adult mouse eye. Atm gene expression was analyzed by RT-PCR experiments and its localization by in situ hybridization on adult mouse ocular and cerebellar tissue sections. ATM protein expression was determined by western blot analysis of proteins homogenates extracted from several mouse tissues and its localization by immunohistochemistry experiments performed on adult mouse ocular and cerebellar tissue sections. In addition, subcellular localization was realized by confocal microscopy imaging of ocular tissue sections, with a special
Marco Antonio, David S; Hartfelder, Klaus
Eye development in insects is best understood in Drosophila melanogaster, but little is known for other holometabolous insects. Combining a morphological with a gene expression analysis, we investigated eye development in the honeybee, putting emphasis on the sex-specific differences in eye size. Optic lobe development starts from an optic lobe anlage in the larval brain, which sequentially gives rise to the lobula, medulla, and lamina. The lamina differentiates in the last larval instar, when it receives optic nerve projections from the developing retina. The expression analysis focused on seven genes important for Drosophila eye development: eyes absent, sine oculis, embryonic lethal abnormal vision, minibrain, small optic lobes, epidermal growth factor receptor, and roughest. All except small optic lobes were more highly expressed in third-instar drone larvae, but then, in the fourth and fifth instar, their expression was sex-specifically modulated, showing shifts in temporal dynamics. The clearest differences were seen for small optic lobes, which is highly expressed in the developing eye of workers, and minibrain and roughest, which showed a strong expression peak coinciding with retina differentiation. A microarray analysis for optic lobe/retina complexes revealed the differential expression of several metabolism-related genes, as well as of two micro-RNAs. While we could not see major morphological differences in the developing eye structures before the pupal stage, the expression differences observed for the seven candidate genes and in the transcriptional microarray profiles indicate that molecular signatures underlying sex-specific optic lobe and retina development become established throughout the larval stages. © 2016 Wiley Periodicals, Inc.
Imarazene, Boudjema; Andouche, Aude; Bassaglia, Yann; Lopez, Pascal-Jean; Bonnaud-Ponticelli, Laure
In metazoans, there is a remarkable diversity of photosensitive structures; their shapes, physiology, optical properties, and development are different. To approach the evolution of photosensitive structures and visual function, cephalopods are particularly interesting organisms due to their most highly centralized nervous system and their camerular eyes which constitute a convergence with those of vertebrates. The eye morphogenesis in numerous metazoans is controlled mainly by a conserved Retinal Determination Gene Network (RDGN) including pax, six, eya , and dac playing also key developmental roles in non-retinal structures and tissues of vertebrates and Drosophila . Here we have identified and explored the role of Sof-dac, Sof-six1/2, Sof-eya in eye morphogenesis, and nervous structures controlling the visual function in Sepia officinalis . We compare that with the already shown expressions in eye development of Sof-otx and Sof-pax genes. Rhodopsin is the pigment responsible for light sensitivity in metazoan, which correlate to correlate visual function and eye development. We studied Sof-rhodopsin expression during retina differentiation. By in situ hybridization, we show that (1) all of the RDGN genes, including Sof-pax6 , are expressed in the eye area during the early developmental stages but they are not expressed in the retina, unlike Sof-otx , which could have a role in retina differentiation; (2) Sof-rhodopsin is expressed in the retina just before vision gets functional, from stage 23 to hatching. Our results evidence a role of Sof-six1/2, Sof-eya , and Sof-dac in eye development. However, the gene network involved in the retinal photoreceptor differentiation remains to be determined. Moreover, for the first time, Sof-rhodopsin expression is shown in the embryonic retina of cuttlefish suggesting the evolutionary conservation of the role of rhodopsin in visual phototransduction within metazoans. These findings are correlated with the physiological and
Full Text Available In metazoans, there is a remarkable diversity of photosensitive structures; their shapes, physiology, optical properties, and development are different. To approach the evolution of photosensitive structures and visual function, cephalopods are particularly interesting organisms due to their most highly centralized nervous system and their camerular eyes which constitute a convergence with those of vertebrates. The eye morphogenesis in numerous metazoans is controlled mainly by a conserved Retinal Determination Gene Network (RDGN including pax, six, eya, and dac playing also key developmental roles in non-retinal structures and tissues of vertebrates and Drosophila. Here we have identified and explored the role of Sof-dac, Sof-six1/2, Sof-eya in eye morphogenesis, and nervous structures controlling the visual function in Sepia officinalis. We compare that with the already shown expressions in eye development of Sof-otx and Sof-pax genes. Rhodopsin is the pigment responsible for light sensitivity in metazoan, which correlate to correlate visual function and eye development. We studied Sof-rhodopsin expression during retina differentiation. By in situ hybridization, we show that (1 all of the RDGN genes, including Sof-pax6, are expressed in the eye area during the early developmental stages but they are not expressed in the retina, unlike Sof-otx, which could have a role in retina differentiation; (2 Sof-rhodopsin is expressed in the retina just before vision gets functional, from stage 23 to hatching. Our results evidence a role of Sof-six1/2, Sof-eya, and Sof-dac in eye development. However, the gene network involved in the retinal photoreceptor differentiation remains to be determined. Moreover, for the first time, Sof-rhodopsin expression is shown in the embryonic retina of cuttlefish suggesting the evolutionary conservation of the role of rhodopsin in visual phototransduction within metazoans. These findings are correlated with the
Kawamura, Takashi; Ohtsubo, Masafumi; Mitsuyama, Susumu; Ohno-Nakamura, Saho; Shimizu, Nobuyoshi; Minoshima, Shinsei
KMeyeDB (http://mutview.dmb.med.keio.ac.jp/) is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser with smooth user-interface, without user registration. The results are displayed on the graphical windows together with statistical calculations. All mutations and associated data have been collected from published articles. Careful data analysis with KMeyeDB revealed many interesting features regarding the mutations in 167 genes that cause 326 different types of eye diseases. Some genes are involved in multiple types of eye diseases, whereas several eye diseases are caused by different mutations in one gene.
Roč. 75, 2-4 (2008), s. 335-339 ISSN 0361-9230 R&D Projects: GA AV ČR IAA500520604; GA MŠk(CZ) 1M0520 Institutional research plan: CEZ:AV0Z50520514 Keywords : eye * Pax * evolution Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.281, year: 2008
Fokina, Valentina M.; Frolova, Elena I.
To address the roles of Wnts in the development of the anterior eye, we used a chicken model to perform comprehensive expression analysis of all Wnt genes during anterior eye development. In analyzing the available genomic sequences, we found that the chicken genome encodes 18 Wnt proteins that are homologous to corresponding human and mouse proteins. The mRNA sequences for 12 chicken Wnt genes are available in GenBank, and mRNAs for six other Wnt genes (Wnt2, Wnt5b, Wnt7b, Wnt8b, Wnt9b and W...
Arroyo, Armando; Pernasetti, Flavia; Vasilyev, Vyacheslav V.; Amato, Paula; Yen, Samuel S. C.; Mellon, Pamela L.
Summary We report a 28-year-old-female who presented with primary amenorrhoea, absence of puberty, obesity and normal stature. The subject was clearly short as a child, with a height more than 2 SD below normal until the age of 15 years. The pubertal growth spurt failed to develop. She continued growing at a prepubertal rate until growth ceased at the age of 20 years, reaching her final adult height of 157 cm (SDS −0.86) without hormonal treatment. A combined pituitary hormone stimulation test of anterior pituitary function showed deficiencies of GH, LH and FSH, and low normal serum levels of TSH and PRL. Magnetic resonance imaging revealed a hypoplastic pituitary with markedly reduced pituitary height. In addition, a whole body dual energy X-ray absorptiometry scan showed high levels of body fat (54%). Combined pituitary hormone deficiencies with a hypoplastic pituitary suggested the diagnosis of a Prophet of Pit-1 (PROP1) gene mutation. Normal stature in this case, however, confounded this diagnosis. Sequencing of PROP1 revealed homozygosity for a single base-pair substitution (C to T), resulting in the replacement of an Arg by a Cys at codon 120 (R120C) in the third helix of the homeodomain of the Prop-1 protein. To our knowledge, this is the first report of a patient with a mutation in the PROP1 gene that attained normal height without hormonal treatment, indicating a new variability in the PROP1 phenotype, with important implications for the diagnosis of these patients. We suggest that this can be explained by (i) the presence of low levels of GH in the circulation during childhood and adolescence; (ii) the lack of circulating oestrogen delaying epiphyseal fusion, resulting in growth beyond the period of normal growth; and (iii) fusion of the epiphyseal plates, possibly as a result of circulating oestrogens originating from peripheral conversion of androgens by adipose tissue. PMID:12153609
De Tiège, Alexis; Van de Peer, Yves; Braeckman, Johan; Tanghe, Koen B
Although classical evolutionary theory, i.e., population genetics and the Modern Synthesis, was already implicitly 'gene-centred', the organism was, in practice, still generally regarded as the individual unit of which a population is composed. The gene-centred approach to evolution only reached a logical conclusion with the advent of the gene-selectionist or gene's eye view in the 1960s and 1970s. Whereas classical evolutionary theory can only work with (genotypically represented) fitness differences between individual organisms, gene-selectionism is capable of working with fitness differences among genes within the same organism and genome. Here, we explore the explanatory potential of 'intra-organismic' and 'intra-genomic' gene-selectionism, i.e., of a behavioural-ecological 'gene's eye view' on genetic, genomic and organismal evolution. First, we give a general outline of the framework and how it complements the-to some extent-still 'organism-centred' approach of classical evolutionary theory. Secondly, we give a more in-depth assessment of its explanatory potential for biological evolution, i.e., for Darwin's 'common descent with modification' or, more specifically, for 'historical continuity or homology with modular evolutionary change' as it has been studied by evolutionary developmental biology (evo-devo) during the last few decades. In contrast with classical evolutionary theory, evo-devo focuses on 'within-organism' developmental processes. Given the capacity of gene-selectionism to adopt an intra-organismal gene's eye view, we outline the relevance of the latter model for evo-devo. Overall, we aim for the conceptual integration between the gene's eye view on the one hand, and more organism-centred evolutionary models (both classical evolutionary theory and evo-devo) on the other.
Na, Kyung-Sun; Mok, Jee-Won; Kim, Ja Yeon
Purpose To determine whether proinflammatory cytokine genes were potential susceptibility candidate genes for Korean patients with non-Sjogren dry eye, we investigated the association of the interleukin 1 beta (IL1B), interleukin 6 (IL6), and interleukin 6 receptor (IL6R) variations with this disease in Korean patients. Methods Genomic DNA was extracted from blood samples of unrelated non-Sjogren dry eye patients and healthy control individuals who visited the Eye Center and Health Promotion Center of St. Mary’s Hospital in Seoul, Korea. For screening genetic variations in proinflammatory cytokine genes, the 511 (rs16944) and 31 (rs1143627) positions in the promoter region of IL1B, rs1143634 in exon 5 of IL1B, rs1800795 of the IL6 promoter, and Asp358Ala (rs8192284) of IL6R were genotyped using the polymerase chain reaction, restriction fragment length polymorphisms, and direct sequencing. Results Among the polymorphisms, rs1143634 (F105F) in exon 5 of IL1B was significantly different between the patient and control groups. The frequency of the C/T genotype in dry eye patients was decreased relative to that of the control subjects (10.4% versus 3.9%, p=0.043, OR=3.337). For the IL6R gene, the genotypic and allelic distribution of rs8192284 was different between the dry eye patients and the controls: CC genotype (p=0.017, OR=2.12) and C allele (OR=1.26). Conclusions This is the first report of genetic variation screening of proinflammatory cytokine genes in Korean non-Sjogren dry eye patients. It is suggested that rs1143634 of IL1B and rs8192284 of IL6R act as susceptibility variations in Korean non-Sjogren dry eye patients. PMID:22128229
Gerald S Wilkinson
Full Text Available Stalk-eyed flies (family Diopsidae are a model system for studying sexual selection due to the elongated and sexually dimorphic eye-stalks found in many species. These flies are of additional interest because their X chromosome is derived largely from an autosomal arm in other flies. To identify candidate genes required for development of dimorphic eyestalks and investigate how sex-biased expression arose on the novel X, we compared gene expression between males and females using oligonucleotide microarrays and RNA from developing eyestalk tissue or adult heads in the dimorphic diopsid, Teleopsis dalmanni. Microarray analysis revealed sex-biased expression for 26% of 3,748 genes expressed in eye-antennal imaginal discs and concordant sex-biased expression for 86 genes in adult heads. Overall, 415 female-biased and 482 male-biased genes were associated with dimorphic eyestalk development but not differential expression in the adult head. Functional analysis revealed that male-biased genes are disproportionately associated with growth and mitochondrial function while female-biased genes are associated with cell differentiation and patterning or are novel transcripts. With regard to chromosomal effects, dosage compensation occurs by elevated expression of X-linked genes in males. Genes with female-biased expression were more common on the X and less common on autosomes than expected, while male-biased genes exhibited no chromosomal pattern. Rates of protein evolution were lower for female-biased genes but higher for genes that moved on or off the novel X chromosome. These findings cannot be due to meiotic sex chromosome inactivation or by constraints associated with dosage compensation. Instead, they could be consistent with sexual conflict in which female-biased genes on the novel X act primarily to reduce eyespan in females while other genes increase eyespan in both sexes. Additional information on sex-biased gene expression in other tissues and
Rickman, Catherine Bowes; Ebright, Jessica N.; Zavodni, Zachary J.; Yu, Ling; Wang, Tianyuan; Daiger, Stephen P.; Wistow, Graeme; Boon, Kathy; Hauser, Michael A.
Purpose To develop large-scale, high-throughput annotation of the human macula transcriptome and to identify and prioritize candidate genes for inherited retinal dystrophies, based on ocular-expression profiles using serial analysis of gene expression (SAGE). Methods Two human retina and two retinal pigment epithelium (RPE)/choroid SAGE libraries made from matched macula or midperipheral retina and adjacent RPE/choroid of morphologically normal 28- to 66-year-old donors and a human central retina longSAGE library made from 41- to 66-year-old donors were generated. Their transcription profiles were entered into a relational database, EyeSAGE, including microarray expression profiles of retina and publicly available normal human tissue SAGE libraries. EyeSAGE was used to identify retina- and RPE-specific and -associated genes, and candidate genes for retina and RPE disease loci. Differential and/or cell-type specific expression was validated by quantitative and single-cell RT-PCR. Results Cone photoreceptor-associated gene expression was elevated in the macula transcription profiles. Analysis of the longSAGE retina tags enhanced tag-to-gene mapping and revealed alternatively spliced genes. Analysis of candidate gene expression tables for the identified Bardet-Biedl syndrome disease gene (BBS5) in the BBS5 disease region table yielded BBS5 as the top candidate. Compelling candidates for inherited retina diseases were identified. Conclusions The EyeSAGE database, combining three different gene-profiling platforms including the authors’ multidonor-derived retina/RPE SAGE libraries and existing single-donor retina/RPE libraries, is a powerful resource for definition of the retina and RPE transcriptomes. It can be used to identify retina-specific genes, including alternatively spliced transcripts and to prioritize candidate genes within mapped retinal disease regions. PMID:16723438
Sevrioukov, E A; He, J P; Moghrabi, N; Sunio, A; Krämer, H
Deep orange and carnation are two of the classic eye color genes in Drosophila. Here, we demonstrate that Deep orange is part of a protein complex that localizes to endosomal compartments. A second component of this complex is Carnation, a homolog of Sec1p-like regulators of membrane fusion. Because complete loss of deep orange function is lethal, the role of this complex in intracellular trafficking was analyzed in deep orange mutant clones. Retinal cells devoid of deep orange function completely lacked pigmentation and exhibited exaggerated multivesicular structures. Furthermore, a defect in endocytic trafficking was visualized in developing photoreceptor cells. These results provide direct evidence that eye color mutations of the granule group also disrupt vesicular trafficking to lysosomes.
Turunen, Tytteli Anni Kaarina; Laakkonen, Johanna Päivikki; Alasaarela, Laura; Airenne, Kari Juhani; Ylä-Herttuala, Seppo
A baculovirus vector is capable of efficiently transducing many nondiving and diving cell types. However, the potential of baculovirus is restricted for many gene delivery applications as a result of the transient gene expression that it mediates. The plasmid-based Sleeping Beauty (SB) transposon system integrates transgenes into target cell genome efficiently with a genomic integration pattern that is generally considered safer than the integration of many other integrating vectors; yet efficient delivery of therapeutic genes into cells of target tissues in vivo is a major challenge for nonviral gene therapy. In the present study, SB was introduced into baculovirus to obtain novel hybrid vectors that would combine the best features of the two vector systems (i.e. effective gene delivery and efficient integration into the genome), thus circumventing the major limitations of these vectors. We constructed and optimized SB-baculovirus hybrid vectors that bear either SB100x transposase or SB transposon in the forward or reverse orientations with respect to the viral backbone The functionality of the novel hybrid vectors was investigated in cell cultures and in a proof-of-concept study in the mouse eye. The hybrid vectors showed high and sustained transgene expression that remained stable and demonstrated no signs of decline during the 2 months follow-up in vitro. These results were verified in the mouse eye where persistent transgene expression was detected two months after intravitreal injection. Our results confirm that (i) SB-baculovirus hybrid vectors mediate long-term gene expression in vitro and in vivo, and (ii) the hybrid vectors are potential new tools for the treatment of ocular diseases. Copyright © 2014 John Wiley & Sons, Ltd.
Amy T. Mccurley
Full Text Available It is well-established that neurons in the adult mammalian central nervous system (CNS are terminally differentiated and, if injured, will be unable to regenerate their connections. In contrast to mammals, zebrafish and other teleosts display a robust neuroregenerative response. Following optic nerve crush (ONX, retinal ganglion cells (RGC regrow their axons to synapse with topographically correct targets in the optic tectum, such that vision is restored in ~21 days. What accounts for these differences between teleostean and mammalian responses to neural injury is not fully understood. A time course analysis of global gene expression patterns in the zebrafish eye after ONX can help to elucidate cellular and molecular mechanisms that contribute to a successful neuroregeneration. To define different phases of regeneration after ONX, alpha tubulin 1 ( tuba1 and growth-associated protein 43 ( gap43 , markers previously shown to correspond to morphophological events, were measured by real time quantitative PCR (qPCR. Microarray analysis was then performed at defined intervals (6 hours, 1, 4, 12, and 21 days post-ONX and compared to SHAM. Results show that optic nerve damage induces multiple, phase-related transcriptional programs, with the maximum number of genes changed and highest fold-change occurring at 4 days. Several functional groups affected by optic nerve regeneration, including cell adhesion, apoptosis, cell cycle, energy metabolism, ion channel activity, and calcium signaling, were identified. Utilizing the whole eye allowed us to identify signaling contributions from the vitreous, immune and glial cells as well as the neural cells of the retina. Comparisons between our dataset and transcriptional profiles from other models of regeneration in zebrafish retina, heart and fin revealed a subset of commonly regulated transcripts, indicating shared mechanisms in different regenerating tissues. Knowledge of gene expression patterns in all
Tabuchi, Nobuhito; Toshida, Hiroshi; Koike, Daisuke; Odaka, Akito; Suto, Chikako; Ohta, Toshihiko; Murakami, Akira
We examined the wound-healing effect of retinol palmitate (VApal) on mucin gene and protein expressions in a rat dry eye model based on lacrimal gland (LG) resection after injury. The rat dry eye model was prepared by surgical resection of the main LG in male Long-Evans rats. After alkaline injury of the central part of the lower palpebral conjunctiva bilaterally, VApal eye drops at 1,500 IU/mL in one eye and a vehicle in the fellow eye were both administered 6 times a day for 7 days. The expression of mucin gene and protein was analyzed by real-time polymerase chain reaction or enzyme-linked immunosorbent assay in the cornea and conjunctiva of MUC1, MUC4, MUC16, and MUC5AC after 1, 3, (5), and 7 days of treatment with VApal. Significant decreases in fluorescein-stained areas and rose bengal scores were observed in VApal-treated dry eyes compared with vehicle-treated dry eyes at both 3 (P dry eye model after injury. VApal also promoted conjunctival MUC16 expression. These results indicate that VApal has efficacy in improving keratoconjunctival epithelial damage associated with decreased tear production.
Ruether, K; van de Pol, D; Jaissle, G; Berger, W; Tornow, R P; Zrenner, E
To investigate the retinal function and morphology of mice carrying a replacement mutation in exon 2 of the Norrie disease gene. Recently, Norrie disease mutant mice have been generated using gene targeting technology. The mutation removes the 56 N-terminal amino acids of the Norrie gene product. Ganzfeld electroretinograms (ERGs) were obtained in five animals hemizygous or homozygous for the mutant gene and in three female animals heterozygous for the mutant gene. As controls, three males carrying the wild-type gene were examined. Electroretinogram testing included rod a- and b-wave V-log I functions, oscillatory potentials, and cone responses. The fundus morphology has been visualized by scanning laser ophthalmoscopy. Rod and cone ERG responses and fundus morphology were not significantly different among female heterozygotes and wild-type mice. In contrast, the hemizygous mice displayed a severe loss of ERG b-wave, leading to a negatively shaped scotopic ERG and a marked reduction of oscillatory potentials. The a-wave was normal at low intensities, and only with brighter flashes was there a moderate amplitude loss. Cone amplitudes were barely recordable in the gene-targeted males. Ophthalmoscopy revealed snowflakelike vitreal changes, retinoschisis, and pigment epithelium irregularities in hemizygotes and homozygotes, but no changes in female heterozygotes. The negatively shaped scotopic ERG in male mice with a Norrie disease gene mutation probably was caused by retinoschisis. Pigment epithelial changes and degenerations of the outer retina are relatively mild. These findings may be a clue to the embryonal retinoschisislike pathogenesis of Norrie disease in humans or it may indicate a different expression of the Norrie disease gene defect in mice compared to that in humans.
Tseng, Ai-Sun Kelly; Hariharan, Iswar K
We screened for genes that, when overexpressed in the proliferating cells of the eye imaginal disc, result in a reduction in the size of the adult eye. After crossing the collection of 2296 EP lines to the ey-GAL4 driver, we identified 46 lines, corresponding to insertions in 32 different loci, that elicited a small eye phenotype. These lines were classified further by testing for an effect in postmitotic cells using the sev-GAL4 driver, by testing for an effect in the wing using en-GAL4, and...
Duong, Hao A.; Wang, Cheng Wei; Sun, Y. Henry; Courey, Albert J.
In Drosophila, the eye and antenna originate from a single epithelium termed the eye-antennal imaginal disc. Illumination of the mechanisms that subdivide this epithelium into eye and antenna would enhance our understanding of the mechanisms that restrict stem cell fate. We show here that Dip3, a transcription factor required for eye development, alters fate determination when misexpressed in the early eye-antennal disc, and have taken advantage of this observation to gain new insight into th...
Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep
Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.
Aalfs, C. M.; Fantes, J. A.; Wenniger-Prick, L. J.; Sluijter, S.; Hennekam, R. C.; van Heyningen, V.; Hoovers, J. M.
We report on a girl with a duplication of chromosome band 11p12-->13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were also present in most of the 11 other published
Foerst-Potts, L; Sadler, T W
In mouse embryos, the muscle segment homeobox genes, Msx-1 and Msx-2 are expressed during critical stages of neural tube, neural crest, and craniofacial development, suggesting that these genes play important roles in organogenesis and cell differentiation. Although the patterns of expression are intriguing, little is known about the function of these genes in vertebrate embryonic development. Therefore, the expression of both genes, separately and together, was disrupted using antisense oligodeoxynucleotides and whole embryo culture techniques. Antisense attenuation of Msx-1 during early stages of neurulation produced hypoplasia of the maxillary, mandibular, and frontonasal prominences, eye anomalies, and somite and neural tube abnormalities. Eye defects consisted of enlarged optic vesicles, which may ultimately result in micropthalmia similar to that observed in Small eye mice homozygous for mutations in the Pax-6 gene. Histological sections and SEM analysis revealed a thinning of the neuroepithelium in the diencephalon and optic vesicle and mesenchymal deficiencies in the craniofacial region. Injections of Msx-2 antisense oligodeoxynucleotides produced similar malformations as those targeting Msx-1, with the exception that there was an increase in number and severity of neural tube and somite defects. Embryos injected with the combination of Msx-1 + Msx-2 antisense oligodeoxynucleotides showed no novel abnormalities, suggesting that the genes do not operate in a redundant manner.
Kakrana, Atul; Yang, Andrian; Anand, Deepti; Djordjevic, Djordje; Ramachandruni, Deepti; Singh, Abhyudai; Huang, Hongzhan
Abstract Although successful in identifying new cataract-linked genes, the previous version of the database iSyTE (integrated Systems Tool for Eye gene discovery) was based on expression information on just three mouse lens stages and was functionally limited to visualization by only UCSC-Genome Browser tracks. To increase its efficacy, here we provide an enhanced iSyTE version 2.0 (URL: http://research.bioinformatics.udel.edu/iSyTE) based on well-curated, comprehensive genome-level lens expression data as a one-stop portal for the effective visualization and analysis of candidate genes in lens development and disease. iSyTE 2.0 includes all publicly available lens Affymetrix and Illumina microarray datasets representing a broad range of embryonic and postnatal stages from wild-type and specific gene-perturbation mouse mutants with eye defects. Further, we developed a new user-friendly web interface for direct access and cogent visualization of the curated expression data, which supports convenient searches and a range of downstream analyses. The utility of these new iSyTE 2.0 features is illustrated through examples of established genes associated with lens development and pathobiology, which serve as tutorials for its application by the end-user. iSyTE 2.0 will facilitate the prioritization of eye development and disease-linked candidate genes in studies involving transcriptomics or next-generation sequencing data, linkage analysis and GWAS approaches. PMID:29036527
Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.
Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord
Cataract is a known condition leading to opacification of the eye lens causing partial or total blindness. Mutations are known to cause autosomal dominant or recessive inherited forms of cataracts in humans, mice, rats, guinea pigs and dogs. The use of large-sized animal models instead of those using mice for the study of this condition has been discussed due to the small size of rodent lenses. Four juvenile-onset cases of bilateral incomplete immature nuclear cataract were recently observed in Romagnola cattle. Pedigree analysis suggested a monogenic autosomal recessive inheritance. In addition to the cataract, one of the cases displayed abnormal head movements. Genome-wide association and homozygosity mapping and subsequent whole genome sequencing of a single case identified two perfectly associated sequence variants in a critical interval of 7.2 Mb on cattle chromosome 28: a missense point mutation located in an uncharacterized locus and an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del). RT-PCR showed that NID1 is expressed in bovine lenses while the transcript of the second locus was absent. The NID1 deletion leads to the skipping of exon 19 during transcription and is therefore predicted to cause a frameshift and premature stop codon (p.1164fs27X). The truncated protein lacks a C-terminal domain essential for binding with matrix assembly complexes. Nidogen 1 deficient mice show neurological abnormalities and highly irregular crystal lens alterations. This study adds NID1 to the list of candidate genes for inherited cataract in humans and is the first report of a naturally occurring mutation leading to non-syndromic catarct in cattle provides a potential large animal model for human cataract. PMID:25347398
Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord
Cataract is a known condition leading to opacification of the eye lens causing partial or total blindness. Mutations are known to cause autosomal dominant or recessive inherited forms of cataracts in humans, mice, rats, guinea pigs and dogs. The use of large-sized animal models instead of those using mice for the study of this condition has been discussed due to the small size of rodent lenses. Four juvenile-onset cases of bilateral incomplete immature nuclear cataract were recently observed in Romagnola cattle. Pedigree analysis suggested a monogenic autosomal recessive inheritance. In addition to the cataract, one of the cases displayed abnormal head movements. Genome-wide association and homozygosity mapping and subsequent whole genome sequencing of a single case identified two perfectly associated sequence variants in a critical interval of 7.2 Mb on cattle chromosome 28: a missense point mutation located in an uncharacterized locus and an 855 bp deletion across the exon 19/intron 19 border of the bovine nidogen 1 (NID1) gene (c.3579_3604+829del). RT-PCR showed that NID1 is expressed in bovine lenses while the transcript of the second locus was absent. The NID1 deletion leads to the skipping of exon 19 during transcription and is therefore predicted to cause a frameshift and premature stop codon (p.1164fs27X). The truncated protein lacks a C-terminal domain essential for binding with matrix assembly complexes. Nidogen 1 deficient mice show neurological abnormalities and highly irregular crystal lens alterations. This study adds NID1 to the list of candidate genes for inherited cataract in humans and is the first report of a naturally occurring mutation leading to non-syndromic catarct in cattle provides a potential large animal model for human cataract.
Yamada, Toshiyuki; Nanashima, Naoki; Shimizu, Takeshi; Nakazawa, Yosuke; Nakazawa, Mitsuru; Tsuchida, Shigeki
From our stock of SDRs (Sprague-Dawley rats), we established a mutant strain having small opaque eyes and named it HiSER (Hirosaki small-eye rat). The HiSER phenotype is progressive and autosomal recessive. In HiSER eyes, disruption and involution of the lens, thickening of the inner nuclear layer, detachment and aggregation of the retina, rudimentary muscle in the ciliary body and cell infiltration in the vitreous humour were observed. Genetic linkage analysis using crossing with Brown Norway rat suggested that the causative gene(s) is located on chromosome 10. Microarray analysis showed that the expression level of the Cryba1 gene encoding βA3/A1-crystallin on chromosome 10 was markedly decreased in HiSER eyes. Genomic PCR revealed deletion of a 3.6-kb DNA region encompassing exons 4-6 of the gene in HiSERs. In HiSER eyes, a chimaeric transcript of the gene containing exons 1-3 and an approximately 250-bp sequence originating from the 3'-UTR of the Nufip2 gene, located downstream of the breakpoint in the opposite direction, was present. Whereas the chimaeric transcript was expressed in HiSER eyes, neither normal nor chimaeric βA3/A1-crystallin proteins were detected by Western blot analysis. Real-time RT (reverse transcription)-PCR analysis revealed that expression level of the Nufip2 gene in the HiSER eye was 40% of that in the SDR eye. These results suggest that the disappearance of the βA3/A1-crystallin protein and, in addition, down-regulation of the Nufip2 gene as a consequence of gene rearrangement causes the HiSER phenotype. © 2015 Authors; published by Portland Press Limited.
Qureshi, Muhammad Yasir; Burkhart, Harold M; Julsrud, Paul; Cetta, Frank
Tetralogy of Fallot without pulmonary valve syndrome is almost always associated with an absent ductus arteriosus. Patients with right aortic arch and retroesophageal left subclavian artery have a vascular ring if the left ductus arteriosus or its remnant and the Kommerell diverticulum are present. We report the cases of 2 infants in whom the role of an absent ductus arteriosus or its remnant is noteworthy. Both patients had a combination of tetralogy of Fallot with absent pulmonary valve syndrome and right aortic arch with retroesophageal left subclavian artery without a vascular ring. The absence of the ductus arteriosus has a role in the pathogenesis of tetralogy of Fallot with absent pulmonary valve syndrome. The absence of a ductus arteriosus in the right aortic arch with retroesophageal left subclavian artery precludes a vascular ring.
Eiberg, Hans; Troelsen, Jesper; Boyd, Mette
The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region...... within the HERC2 gene. By association analyses, we identified two SNPs within this region that were perfectly associated with the blue and brown eye colors: rs12913832 and rs1129038. Of these, rs12913832 is located 21.152 bp upstream from the OCA2 promoter in a highly conserved sequence in intron 86...... founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans. In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color....
Science Teacher, 2005
Johns Hopkins researchers at the Wilmer Eye Institute have discovered what appears to be the first human gene mutation that causes extreme farsightedness. The researchers report that nanophthalmos, Greek for "dwarf eye," is a rare, potentially blinding disorder caused by an alteration in a gene called MFRP that helps control eye growth and…
Full Text Available Katarzyna Michalska-Małecka,1,2 Adam Kabiesz,2 Malgorzata W Kimsa,3 Barbara Strzałka-Mrozik,3 Maria Formińska-Kapuścik,2,4 Malgorzata Nita,5 Urszula Mazurek31Clinical Department of Ophthalmology, Medical University of Silesia, Katowice, Poland; 2University Center for Ophthalmology and Oncology, Independent Public Clinical Hospital, Medical University of Silesia, Katowice, Poland; 3Department of Molecular Biology, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, Poland; 4Clinical Department of Children Ophthalmology, Medical University of Silesia, Katowice, Poland; 5Domestic and Specialized Medicine Centre “Dilmed”, Katowice, PolandAbstract: The purpose of this study was to evaluate the systemic effects of intravitreal ranibizumab (Lucentis treatment in patients with neovascular age-related macular degeneration (AMD. The impact of intravitreal ranibizumab injections on central retinal thickness (CRT of treated and contralateral untreated eyes, and differences in gene expression patterns in the peripheral blood mononuclear cells were analyzed. The study included 29 patients aged 50 years old and over with diagnosed neovascular AMD. The treatment was defined as 0.5 mg of ranibizumab injected intravitreally in the form of one injection every month during the period of 3 months. CRT was measured by optical coherence tomography. The gene expression profile was assigned using oligonucleotide microarrays of Affymetrix HG-U133A. Studies have shown that there was a change of CRT between treated and untreated eyes, and there were differences in CRT at baseline and after 1, 2, and 3 months of ranibizumab treatment. Three months after intravitreal injection, mean CRT was reduced in the treated eyes from 331.97±123.62 to 254.31±58.75 µm, while mean CRT in the untreated fellow eyes reduced from 251.07±40.29 to 235.45±36.21 µm at the same time. Furthermore, the research has shown
Full Text Available ... Clinical Director Laboratories, Sections and Units Division of Epidemiology and Clinical Applications eyeGENE Research Directors Office Office ... Diabetic Eye Disease Education Program Glaucoma Education Program Low Vision Education Program Hispanic/Latino Program Vision and ...
Full Text Available The formation of primary angle closure (PAC and primary angle closure glaucoma (PACG is regulated by a tissue remodeling pathway that plays a critical role in eye development. MicroRNAs (miRNAs are powerful gene expression regulators and may exert their effects on tissue remodeling genes. This study investigated the associations between gene variants (single-nucleotide polymorphism, SNP in miRNA binding sites in the 3'-UTR region of genes involved in eye development and PAC.The sample consisted of 232 PAC subjects and 306 controls obtained from a population-based cohort in the Funing District of Jiangsu, China. The markers include 9 SNPs in the COL11A1, PCMTD1, ZNRF3, MTHFR, and ALPPL2 genes respectively. SNP genotyping was performed with a TaqMan-MGB probe using an RT-PCR system.Of the 9 SNPs studied, the frequency of the minor A allele of COL11A1 rs1031820 was higher in the PAC group than in the control group in allele analysis (p = 0.047. The genotype analysis indicated that MTHFR rs1537514 is marginally associated with PAC (p = 0.014. The CC genotype of rs1537514 was present solely in the PAC group. However, the differences lost significance after Bonferroni correction.Our study reveals a possible association of COL11A1 and MTHFR with PAC in the Han Chinese population. These results will contribute to an improved understanding of the genetic basis of PACG.
Zhang, R L; Samuelson, D A; Zhang, Z G; Reddy, V N; Shastry, B S
The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alpha, beta, and gamma crystallins and the membrane protein (MP26), are known to maintain the structure and function of the lens, the authors used complimentary DNA (cDNA) fragments that corresponded to the above genes to search for the mutations at their loci in the affected animals. They found no evidence of the gene deletion and rearrangement in any of the five loci. In addition, the hybridizable sequences of the dog DNA to the specific probes for the human chromosome 4 and 18 loci, which are reported to be involved in the abnormality of the human eye, seem to be unaffected. These data support the notion that the hereditary cataracts and microphthalmia in the dog may be associated with genes other than those reported for several animal systems.
Paul A M Van Lange
Full Text Available Over the past decades, numerous twin studies have revealed moderate to high heritability estimates for individual differences in a wide range of human traits, including cognitive ability, psychiatric disorders, and personality traits. Even factors that are generally believed to be environmental in nature have been shown to be under genetic control, albeit modest. Is such heritability also present in social traits that are conceptualized as causes and consequences of social interactions or in other ways strongly shaped by behavior of other people? Here we examine a population-based sample of 1,012 twins and relatives. We show that the genetic influence on generalized trust in other people (trust-in-others: h2 = 5%, ns, and beliefs regarding other people's trust in the self (trust-in-self: h2 = 13%, ns, is virtually absent. As test-retest reliability for both scales were found to be moderate or high (r = .76 and r = .53, respectively in an independent sample, we conclude that all variance in trust is likely to be accounted for by non-shared environmental influences. We show that, relative to cognitive abilities, psychiatric disorders, and classic personality variables, genetic influences are smaller for trust, and propose that experiences with or observations of the behavior of other people shape trust more strongly than other traits.
Choi, Seunghye; Lee, Miri; Lee, Su-Hyon; Jung, Haeng-Sun; Kim, Seol-Yeong; Chung, Tae-Young; Choe, Tae-boo; Chun, Young-Jin; Lim, Kyung-Min
Evaluation of the eye irritation is essential in the development of new cosmetic products. Draize rabbit eye irritation test has been widely used in which chemicals are directly applied to rabbit eye, and the symptoms and signs of eyes are scored. However, due to the invasive procedure, it causes substantial pain and discomfort to animals. Recently, we reported in vitro eye irritation test method using a 3D human corneal epithelial model (MCTT HCE™) which is reconstructed from remaining human tissues after a corneal transplantation. This model exhibited an excellent predictive capacity for 25 reference chemicals (sensitivity 100%, specificity 77% and accuracy 88% vs. GHS). To improve the test performance, we explored new biomarkers for the eye irritation through transcriptomic approach. Three surfactants were selected as model eye irritants that include sodium lauryl sulfate, benzalkonium chloride and triton X-100. After test chemicals were treated, we investigated differentially expressed genes through a whole-gene microarray (Affymetrix GeneChip(®) Human Gene 2.0 ST Array, 48,000 probes). As a result, we identified that mRNAs of cornifelin (CNFN), a constituent of the insoluble cornified cell envelope of stratified squamous epithelia, and early growth response-1 (EGR1), a nuclear transcriptional regulator, were significantly up-regulated by all three irritants. Up-regulation of CNFN and EGR1 was further confirmed by Q-RT-PCR, and immunohistochemistry revealed increased level of CNFN in irritant-treated tissues, supporting the relevance of CNFN and EGR1 as new biomarkers for eye irritation.
Peyer, Suzanne M.; Pankey, M. Sabrina; Oakley, Todd H.; McFall-Ngai, Margaret J.
The squid Euprymna scolopes has evolved independent sets of tissues capable of light detection, including a complex eye and a photophore or ‘light organ’, which houses the luminous bacterial symbiont Vibrio fischeri. As the eye and light organ originate from different embryonic tissues, we examined whether the eye-specification genes, pax6, eya, six, and dac, are shared by these two organs, and if so, whether they are regulated in the light organ by symbiosis. We obtained sequences of the fou...
... Eye » Facts About Dry Eye Listen Facts About Dry Eye Fact Sheet Blurb The National Eye Institute (NEI) ... and their families search for general information about dry eye. An eye care professional who has examined the ...
Efficient delivery of genetic material to cells is needed for tasks of utmost importance in laboratory and clinic, such as gene transfection and gene silencing. Synthetic cationic lipids can be used as delivery vehicles for nucleic acids and are now considered the most promising non-viral gene carriers. They form complexes (lipoplexes) with the polyanionic nucleic acids. A critical obstacle for clinical application of the lipid-mediated DNA delivery (lipofection) is its unsatisfactory efficie...
Mozer, B A
Dominant Drop (Dr) mutations are nearly eyeless and have additional recessive phenotypes including lethality and patterning defects in eye and sensory bristles due to cis-regulatory lesions in the cell cycle regulator string (stg). Genetic analysis demonstrates that the dominant small eye phenotype is the result of separate gain-of-function mutations in the closely linked muscle segment homeobox (msh) gene, encoding a homeodomain transcription factor required for patterning of muscle and nervous system. Reversion of the Dr(Mio) allele was coincident with the generation of lethal loss-of-function mutations in msh in cis, suggesting that the dominant eye phenotype is the result of ectopic expression. Molecular genetic analysis revealed that two dominant Dr alleles contain lesions upstream of the msh transcription start site. In the Dr(Mio) mutant, a 3S18 retrotransposon insertion is the target of second-site mutations (P-element insertions or deletions) which suppress the dominant eye phenotype following reversion. The pattern of 3S18 expression and the absence of msh in eye imaginal discs suggest that transcriptional activation of the msh promoter accounts for ectopic expression. Dr dominant mutations arrest eye development by blocking the progression of the morphogenetic furrow leading to photoreceptor cell loss via apoptosis. Gal4-mediated ubiquitous expression of msh in third-instar larvae was sufficient to arrest the morphogenetic furrow in the eye imaginal disc and resulted in lethality prior to eclosion. Dominant mutations in the human msx2 gene, one of the vertebrate homologs of msh, are associated with craniosynostosis, a disease affecting cranial development. The Dr mutations are the first example of gain-of-function mutations in the msh/msx gene family identified in a genetically tractible model organism and may serve as a useful tool to identify additional genes that regulate this class of homeodomain proteins. Copyright 2001 Academic Press.
... Español Eye Health / Eye Health A-Z Eye Allergies Sections What Are Eye Allergies? Eye Allergy Symptoms ... allergy diagnosis Eye allergy treatment What Are Eye Allergies? Leer en Español: ¿Qué son las alergias de ...
Absent abdominal muscles, cryptorchidism, and hydroureteronephrosis are known to occur in the prune belly syndrome (PBS). We present a male with absent abdominal muscles, severe neurologic damage, with global developmental delay, hydroureteronephrosis, and cryptorchidism. The patient also had arthrogryposis ...
laparoscopy, the vas and testicular vessels are traced as ... Methods Both Mullerian inhibitory factor and testosterone act locally as ... Surg 9:79–80 c 2013 Annals of Pediatric Surgery. ... Unilateral absent testis should be associated ... Absent testis during groin exploration ... visualized at laparoscopic or open exploration.
racepresent racism, the race of the racist figures as a term in her racist thinking; in own-race-absent racism it does not. While own-race-present racism might conform readily to commonsense understandings of racism, own-race-absent racism less clearly ...
Lytzen, Rebekka; Sundberg, Karin; Vejlstrup, Niels
Introduction In up to 0.07% of the general population, the right anterior cardinal vein obliterates and the left remains open, creating an absent right superior caval vein and a persistent left superior caval vein. Absent right superior caval vein is associated with additional congenital heart...... disease in about half the patients. We wished to study the consequences of absent right superior caval vein as an incidental finding on prenatal ultrasonic malformation screening. Material and methods This is a retrospective case series study of all foetuses diagnosed with absent right superior caval vein...... no postnatal complications. All children were found to have healthy hearts at follow-up. CONCLUSIONS: In all cases, the findings proved to be a benign condition with no clinical manifestations or complications. Although isolated absent right superior caval vein does not seem to affect the outcome, associated...
Ye, Xin; Smallwood, Philip; Nathans, Jeremy
The Norrie disease gene (Ndp) codes for a secreted protein, Norrin, that activates canonical Wnt signaling by binding to its receptor, Frizzled-4. This signaling system is required for normal vascular development in the retina and for vascular survival in the cochlea. In mammals, the pattern of Ndp expression beyond the retina is poorly defined due to the low abundance of Norrin mRNA and protein. Here, we characterize Ndp expression during mouse development by studying a knock-in mouse that carries the coding sequence of human placental alkaline phosphatase (AP) inserted at the Ndp locus (Ndp(AP)). In the CNS, Ndp(AP) expression is apparent by E10.5 and is dynamic and complex. The anatomically delimited regions of Ndp(AP) expression observed prenatally in the CNS are replaced postnatally by widespread expression in astrocytes in the forebrain and midbrain, Bergman glia in the cerebellum, and Müller glia in the retina. In the developing and adult cochlea, Ndp(AP) expression is closely associated with two densely vascularized regions, the stria vascularis and a capillary plexus between the organ of Corti and the spiral ganglion. These observations suggest the possibility that Norrin may have developmental and/or homeostatic functions beyond the retina and cochlea. Copyright © 2010 Elsevier B.V. All rights reserved.
Birchler, J A; Bhadra, U; Rabinow, L; Linsk, R; Nguyen-Huynh, A T
A locus is described in Drosophila melanogaster that modifies the expression of the white eye color gene. This trans-acting modifier reduces the expression of the white gene in the eye, but elevates the expression in other adult tissues. Because of the eye phenotype in which the expression of white is lessened but not eliminated, the newly described locus is called the Weakener of white (Wow). Northern analysis reveals that Wow can exert an inverse or direct modifying effect depending upon the developmental stage. Two related genes, brown and scarlet, that are coordinately expressed with white, are also affected by Wow. In addition, Wow modulates the steady state RNA level of the retrotransposon, copia. When tested with a white promoter-Alcohol dehydrogenase reporter. Wow confers the modifying effect to the reporter, suggesting a requirement of the white regulatory sequences for mediating the response. In addition to being a dosage sensitive regulator of white, brown, scarlet and copia, Wow acts as a suppressor of position effect variegation. There are many dosage sensitive suppressors of position effect variegation and many dosage-sensitive modifiers of gene expression. The Wow mutations provide evidence for an overlap between the two types of modifiers.
Dau, Susanne; Rask, Anders Bindslev
Computer Supported Collaborative Learning (CSCL) is used a frame for supporting online and blended learning in educations. The online communication and collaboration are afforded by the social collaboration. However, the social collaboration is based on the establishment of direct eye contact...... (Khalid, Deska & Hugenberg, 2016), but direct eye contact is challenged by the position of the digital devices and thus CSCL. Lack of eye contact is the chief contributor to the negative effects of online disinhibition (Lapidot-Lefler & Barak, 2012) and the problem is the location of the web camera...... at the computer. Eye contact is challenged by the displacement between the senders´ and receivers´ focus on the screen picture and the camera's location at the top or bottom of screens on all digital devices. The aim of this paper is accordingly to investigate the influence of the displacement in eye contact...
Peyer, Suzanne M; Pankey, M Sabrina; Oakley, Todd H; McFall-Ngai, Margaret J
The squid Euprymna scolopes has evolved independent sets of tissues capable of light detection, including a complex eye and a photophore or 'light organ', which houses the luminous bacterial symbiont Vibrio fischeri. As the eye and light organ originate from different embryonic tissues, we examined whether the eye-specification genes, pax6, eya, six, and dac, are shared by these two organs, and if so, whether they are regulated in the light organ by symbiosis. We obtained sequences of the four genes with PCR, confirmed orthology with phylogenetic analysis, and determined that each was expressed in the eye and light organ. With in situ hybridization (ISH), we localized the gene transcripts in developing embryos, comparing the patterns of expression in the two organs. The four transcripts localized to similar tissues, including those associated with the visual system ∼1/4 into embryogenesis (Naef stage 18) and the light organ ∼3/4 into embryogenesis (Naef stage 26). We used ISH and quantitative real-time PCR to examine transcript expression and differential regulation in postembryonic light organs in response to the following colonization conditions: wild-type, luminescent V. fischeri; a mutant strain defective in light production; and as a control, no symbiont. In ISH experiments light organs showed down regulation of the pax6, eya, and six transcripts in response to wild-type V. fischeri. Mutant strains also induced down regulation of the pax6 and eya transcripts, but not of the six transcript. Thus, luminescence was required for down regulation of the six transcript. We discuss these results in the context of symbiont-induced light-organ development. Our study indicates that the eye-specification genes are expressed in light-interacting tissues independent of their embryonic origin and are capable of responding to bacterial cues. These results offer evidence for evolutionary tinkering or the recruitment of eye development genes for use in a light
Adriana H.O. Reis
Full Text Available Retinoblastoma (RB, a childhood neoplasia of the retinoblasts, can occur unilaterally or bilaterally, with one or multiple foci per eye. RB is associated with somatic loss-of-function of both alleles of the tumor suppressor gene RB1. Hereditary forms emerge due to germline loss-of-function mutations in RB1 alleles. RB has long been the prototypic ‘‘model’’ cancer ever since Knudson’s ‘‘two-hit’’ hypothesis. However, a simple two-hit model for RB is challenged by an increasing number of studies documenting additional hits that contribute to RB development. Here we review the genetics and epigenetics of RB with a focus on the role of small noncoding RNAs (microRNAs and on novel findings indicating the relevance of DNA methylation in the development and prognosis of this neoplasia. Studies point to an elaborated landscape of genetic and epigenetic complexity, in which a number of events and pahtways play crucial roles in the origin and prognosis of RB. These include roles for microRNAs, inprinted loci, and parent-of-origin contributions to RB1 regulation and RB progression. This complexity is also manifested in the structure of the RB1 locus itself: it includes numerous repetitive DNA segments and retrotransposon insertion elements, some of which are actively transcribed from the RB1 locus. Altogether, we conclude that RB1 loss of function represents the tip of an iceberg of events that determine RB development, progression, severity, and disease risk. Comprehensive assessment of personalized RB risk will require genetic and epigenetic evaluations beyond RB1 protein coding sequences.
Full Text Available ... Units Division of Epidemiology and Clinical Applications eyeGENE Research Directors Office Office of the Scientific Director Sheldon S. ... Fellowships NEI Summer Intern Program Diversity In Vision Research & Ophthalmology (DIVRO) Student Training Programs To search for ...
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Full Text Available ... Office of the Clinical Director Laboratories, Sections and Units Division of Epidemiology and Clinical Applications eyeGENE Research ... iris adjusts the size of the pupil and controls the amount of light that can enter the ...
Full Text Available Some targets in visual search are more difficult to find than others. In particular, a target that is similar to the distractors is more difficult to find than a target that is dissimilar to the distractors. Efficiency differences between easy and difficult searches are manifest not only in target-present trials but also in target-absent trials. In fact, even physically identical displays are searched through with different efficiency depending on the searched-for target. Here, we monitored eye movements in search for a target similar to the distractors (difficult search versus a target dissimilar to the distractors (easy search. We aimed to examine three hypotheses concerning the causes of differential search efficiencies in target-absent trials: (a distractor dwelling (b distractor skipping, and (c distractor revisiting. Reaction times increased with target similarity which is consistent with existing theories and replicates earlier results. Eye movement data indicated guidance in target trials, even though search was very slow. Dwelling, skipping, and revisiting contributed to low search efficiency in difficult search, with dwelling being the strongest factor. It is argued that differences in dwell time account for a large amount of total search time differences.
Horstmann, Gernot; Herwig, Arvid; Becker, Stefanie I.
Some targets in visual search are more difficult to find than others. In particular, a target that is similar to the distractors is more difficult to find than a target that is dissimilar to the distractors. Efficiency differences between easy and difficult searches are manifest not only in target-present trials but also in target-absent trials. In fact, even physically identical displays are searched through with different efficiency depending on the searched-for target. Here, we monitored eye movements in search for a target similar to the distractors (difficult search) versus a target dissimilar to the distractors (easy search). We aimed to examine three hypotheses concerning the causes of differential search efficiencies in target-absent trials: (a) distractor dwelling (b) distractor skipping, and (c) distractor revisiting. Reaction times increased with target similarity which is consistent with existing theories and replicates earlier results. Eye movement data indicated guidance in target trials, even though search was very slow. Dwelling, skipping, and revisiting contributed to low search efficiency in difficult search, with dwelling being the strongest factor. It is argued that differences in dwell time account for a large amount of total search time differences. PMID:27574510
Baker, Richard H; Wilkinson, Gerald S
Chromosomal location has a significant effect on the evolutionary dynamics of genes involved in sexual dimorphism, impacting both the pattern of sex-specific gene expression and the rate of duplication and protein evolution for these genes. For nearly all non-model organisms, however, knowledge of chromosomal gene content is minimal and difficult to obtain on a genomic scale. In this study, we utilized Comparative Genomic Hybridization (CGH), using probes designed from EST sequence, to identify genes located on the X chromosome of four species in the stalk-eyed fly genus Teleopsis. Analysis of log(2) ratio values of female-to-male hybridization intensities from the CGH microarrays for over 3,400 genes reveals a strongly bimodal distribution that clearly differentiates autosomal from X-linked genes for all four species. Genotyping of 33 and linkage mapping of 28 of these genes in Teleopsis dalmanni indicate the CGH results correctly identified chromosomal location in all cases. Syntenic comparison with Drosophila indicates that 90% of the X-linked genes in Teleopsis are homologous to genes located on chromosome 2L in Drosophila melanogaster, suggesting the formation of a nearly complete neo-X chromosome from Muller element B in the dipteran lineage leading to Teleopsis. Analysis of gene movement both relative to Drosophila and within Teleopsis indicates that gene movement is significantly associated with 1) rates of protein evolution, 2) the pattern of gene duplication, and 3) the evolution of eyespan sexual dimorphism. Overall, this study reveals that diopsids are a critical group for understanding the evolution of sex chromosomes within Diptera. In addition, we demonstrate that CGH is a useful technique for identifying chromosomal sex-linkage and should be applicable to other organisms with EST or partial genomic information.
Richard H Baker
Full Text Available Chromosomal location has a significant effect on the evolutionary dynamics of genes involved in sexual dimorphism, impacting both the pattern of sex-specific gene expression and the rate of duplication and protein evolution for these genes. For nearly all non-model organisms, however, knowledge of chromosomal gene content is minimal and difficult to obtain on a genomic scale. In this study, we utilized Comparative Genomic Hybridization (CGH, using probes designed from EST sequence, to identify genes located on the X chromosome of four species in the stalk-eyed fly genus Teleopsis. Analysis of log(2 ratio values of female-to-male hybridization intensities from the CGH microarrays for over 3,400 genes reveals a strongly bimodal distribution that clearly differentiates autosomal from X-linked genes for all four species. Genotyping of 33 and linkage mapping of 28 of these genes in Teleopsis dalmanni indicate the CGH results correctly identified chromosomal location in all cases. Syntenic comparison with Drosophila indicates that 90% of the X-linked genes in Teleopsis are homologous to genes located on chromosome 2L in Drosophila melanogaster, suggesting the formation of a nearly complete neo-X chromosome from Muller element B in the dipteran lineage leading to Teleopsis. Analysis of gene movement both relative to Drosophila and within Teleopsis indicates that gene movement is significantly associated with 1 rates of protein evolution, 2 the pattern of gene duplication, and 3 the evolution of eyespan sexual dimorphism. Overall, this study reveals that diopsids are a critical group for understanding the evolution of sex chromosomes within Diptera. In addition, we demonstrate that CGH is a useful technique for identifying chromosomal sex-linkage and should be applicable to other organisms with EST or partial genomic information.
Héliou, Alice; Pissis, Solon P; Puglisi, Simon J
The biological significance of minimal absent words has been investigated in genomes of organisms from all domains of life. For instance, three minimal absent words of the human genome were found in Ebola virus genomes. There exists an O(n) -time and O(n) -space algorithm for computing all minimal absent words of a sequence of length n on a fixed-sized alphabet based on suffix arrays. A standard implementation of this algorithm, when applied to a large sequence of length n , requires more than 20 n bytes of RAM. Such memory requirements are a significant hurdle to the computation of minimal absent words in large datasets. We present emMAW, the first external-memory algorithm for computing minimal absent words. A free open-source implementation of our algorithm is made available. This allows for computation of minimal absent words on far bigger data sets than was previously possible. Our implementation requires less than 3 h on a standard workstation to process the full human genome when as little as 1 GB of RAM is made available. We stress that our implementation, despite making use of external memory, is fast; indeed, even on relatively smaller datasets when enough RAM is available to hold all necessary data structures, it is less than two times slower than state-of-the-art internal-memory implementations. https://github.com/solonas13/maw (free software under the terms of the GNU GPL). email@example.com or firstname.lastname@example.org. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: email@example.com
Baba, Aejaz A; Hussain, Syed A; Shera, Altaf H; Patnaik, Rekha
Prune belly syndrome (PBS) is a rare congenital constellation of defects in pediatric surgical practice. Although anorectal anomalies have been reported in association with PBS, only few case of pouch colon with PBS has been reported.  In addition, our patient had deficient abdominal wall with absent dermatome in left upper quadrant, which has never been reported in the English literature. This association with abdominal wall deficiency and absent dermatome not only strengthens the theory of mesodermal arrest in the etiology of PBS but also points towards a defect in the ectodermal development.
Full Text Available Prune belly syndrome (PBS is a rare congenital constellation of defects in pediatric surgical practice. Although anorectal anomalies have been reported in association with PBS, only few case of pouch colon with PBS has been reported.  In addition, our patient had deficient abdominal wall with absent dermatome in left upper quadrant, which has never been reported in the English literature. This association with abdominal wall deficiency and absent dermatome not only strengthens the theory of mesodermal arrest in the etiology of PBS but also points towards a defect in the ectodermal development.
Cabello, Adan; Calsamiglia, John
The absent-minded driver's problem illustrates that probabilistic strategies can give higher pay-offs than deterministic ones. We show that there are strategies using quantum entangled states that give even higher pay-offs, both for the original problem and for the generalized version with an arbitrary number of intersections and any possible set of pay-offs
Greenhalgh, K.L.; Howell, R.; Bottani, A.; Ancliff, P.J.; Brunner, H.G.; Verschuuren-Bemelmans, C.C.; Vernon, E.; Brown, K.W.; Newbury-Ecob, R.
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to
Greenhalgh, KL; Howell, RT; Bottani, A; Ancliff, PJ; Brunner, HG; Verschuuren-Bemelmans, CC; Vernon, E; Brown, KW; Newbury-Ecob, RA
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to
Goodwin, C Rory; Desai, Atman; Khattab, Mohamed H; Elder, Benjamin D; Bydon, Ali; Wolinsky, Jean-Paul
Absent congenital pedicle syndrome is a posterior arch defect characterized by numerous congenital and mechanical abnormalities that result from disconnection of the anterior and posterior columns of the spinal canal. Absent congenital pedicle syndrome is a rare anomaly that is most commonly diagnosed incidentally, after evaluation of minor trauma, or after complaints of chronic neck pain. We report a case of absent congenital pedicle syndrome in a patient who presented with myelopathy and lower extremity weakness and review the literature on the surgical management of this entity. A 32-year-old woman with a history of systemic lupus erythematosus presented to the Neurosurgery Service with progressive weakness in her upper and lower extremities, clonus, and hyperreflexia. Magnetic resonance imaging revealed congenital absence of the pedicles of C2, C3, C4, C5, and C6 with a congenitally narrow canal at C4-5. The patient underwent a staged anterior and posterior cervical decompression and fusion. She was placed in a halo after surgery; at the 1-year follow-up, she was ambulatory with demonstrated improvement in weakness and fusion of her cervical spine. Absent congenital pedicle syndrome is rare, and most reported cases were treated conservatively. Surgical management is reserved for patients with myelopathy or instability. Copyright © 2016 Elsevier Inc. All rights reserved.
Full Text Available Mutations in the membrane frizzled-related protein (MFRP/Mfrp gene, specifically expressed in the retinal pigment epithelium (RPE and ciliary body, cause nanophthalmia or posterior microphthalmia with retinitis pigmentosa in humans, and photoreceptor degeneration in mice. To better understand MFRP function, microarray analysis was performed on eyes of homozygous Mfrprd6 and C57BL/6J mice at postnatal days (P 0 and P14, prior to photoreceptor loss. Data analysis revealed no changes at P0 but significant differences in RPE and retina-specific transcripts at P14, suggesting a postnatal influence of the Mfrprd6 allele. A subset of these transcripts was validated by quantitative real-time PCR (qRT-PCR. In Mfrprd6 eyes, a significant 1.5- to 2.0-fold decrease was observed among transcripts of genes linked to retinal degeneration, including those involved in visual cycle (Rpe65, Lrat, Rgr, phototransduction (Pde6a, Guca1b, Rgs9, and photoreceptor disc morphogenesis (Rpgrip1 and Fscn2. Levels of RPE65 were significantly decreased by 2.0-fold. Transcripts of Prss56, a gene associated with angle-closure glaucoma, posterior microphthalmia and myopia, were increased in Mfrprd6 eyes by 17-fold. Validation by qRT-PCR indicated a 3.5-, 14- and 70-fold accumulation of Prss56 transcripts relative to controls at P7, P14 and P21, respectively. This trend was not observed in other RPE or photoreceptor mutant mouse models with similar disease progression, suggesting that Prss56 upregulation is a specific attribute of the disruption of Mfrp. Prss56 and Glul in situ hybridization directly identified Müller glia in the inner nuclear layer as the cell type expressing Prss56. In summary, the Mfrprd6 allele causes significant postnatal changes in transcript and protein levels in the retina and RPE. The link between Mfrp deficiency and Prss56 up-regulation, together with the genetic association of human MFRP or PRSS56 variants and ocular size, raises the possibility that
Eye injuries frequently occur in the home, at work and at play. Many result in legally blind eyes, and most are preventable. Awareness of potential hazards is essential to preventing eye injuries, particularly in children. In addition, protective devices must be used appropriately. We have developed eye protectors that have proved effective in reducing both the overall incidence and the severity of sports eye injuries.
Dwyer, Andrew A; Jayasena, Channa N; Quinton, Richard
The phenomenon known as "mini-puberty" refers to activation of the neonatal hypothalamo-pituitary axis causing serum concentrations of gonadotrophins and testosterone (T) to approach adult male levels. This early neonatal period is a key proliferative window for testicular germ cells and immature Sertoli cells. Although failure to spontaneously initiate (adolescent) puberty is the most evident consequence of a defective gonadotropin-releasing hormone (GnRH) neurosecretory network, absent mini-puberty is also likely to have a major impact on the reproductive phenotype of men with congenital hypogonadotrophic hypogonadism (CHH). Furthermore, the phase of male mini-puberty represents a key window-of-opportunity to identify congenital GnRH deficiency (either isolated CHH, or as part of combined pituitary hormone deficiency) in childhood. Among male neonates exhibiting "red flag" indicators for CHH (i.e. maldescended testes with or without cryptorchidism) a single serum sample (between 4-8 weeks of life) can pinpoint congenital GnRH deficiency far more rapidly and with much greater accuracy than dynamic tests performed in later childhood or adolescence. Potential consequences for missing absent mini-puberty in a male neonate include the lack of monitoring of pubertal progression/lack of progression, and the missed opportunity for early therapeutic intervention. This article will review our current understanding of the mechanisms and clinical consequences of mini-puberty. Furthermore, evidence for the optimal clinical management of patients with absent mini-puberty will be discussed.
Klaassen, Zachary; Choi, Monica; Musselman, Ruth; Eapen, Deborah; Tubbs, R Shane; Loukas, Marios
For years people have been enamored by anomalies of the human limbs, particularly supernumerary and absent limbs and digits. Historically, there are a number of examples of such anomalies, including royal families of ancient Chaldea, tribes from Arabia, and examples from across nineteenth century Europe. The development of the upper limbs in a growing embryo is still being elucidated with the recent advent of homeobox genes, but researchers agree that upper limbs develop between stages 12-23 through a complex embryological process. Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionally, a number of clinical reports have illustrated different limb anomaly cases, with each situation unique in phenotype and developmental abnormality. Supernumerary and absent limbs and digits are not unique to humans, and a number of animal cases have also been reported. This review of the literature illustrates the historical, anatomical, and clinical aspects of supernumerary and absent limbs and digits for the upper limb.
Ramirez, M Desmond; Oakley, Todd H
Cephalopods are renowned for changing the color and pattern of their skin for both camouflage and communication. Yet, we do not fully understand how cephalopods control the pigmented chromatophore organs in their skin and change their body pattern. Although these changes primarily rely on eyesight, we found that light causes chromatophores to expand in excised pieces of Octopus bimaculoides skin. We call this behavior light-activated chromatophore expansion (or LACE). To uncover how octopus skin senses light, we used antibodies against r-opsin phototransduction proteins to identify sensory neurons that express r-opsin in the skin. We hypothesized that octopus LACE relies on the same r-opsin phototransduction cascade found in octopus eyes. By creating an action spectrum for the latency to LACE, we found that LACE occurred most quickly in response to blue light. We fit our action spectrum data to a standard opsin curve template and estimated the λmax of LACE to be 480 nm. Consistent with our hypothesis, the maximum sensitivity of the light sensors underlying LACE closely matches the known spectral sensitivity of opsin from octopus eyes. LACE in isolated preparations suggests that octopus skin is intrinsically light sensitive and that this dispersed light sense might contribute to their unique and novel patterning abilities. Finally, our data suggest that a common molecular mechanism for light detection in eyes may have been co-opted for light sensing in octopus skin and then used for LACE. © 2015. Published by The Company of Biologists Ltd.
Cancer of the eye is uncommon. It can affect the outer parts of the eye, such as the eyelid, which are made up ... and nerves. If the cancer starts inside the eyeball it's called intraocular cancer. The most common intraocular ...
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... away? If you guessed the eye, you're right! Your eyes are at work from the moment you wake up to the ... the eye is seeing. A Muscle Makes It Work The lens is suspended in ... of the lens. That's right — the lens actually changes shape right inside your ...
Rabah M. Shawky
Jun 27, 2015 ... Pediatric Department, Genetics Unit, Ain Shams University, Egypt. Received 26 ... Our patient had also gallstones which were not reported previously and .... of bacterial cultures susceptible to dental caries as detected in our patient .... ment of dry eyes to surgical management with its complica- tions .
Full Text Available In sex role reversed species, predominantly females evolve sexually selected traits, such as ornaments and/or weapons. Female ornaments are common and their function well documented in many species, whether sex role reversed or not. However, sexually selected female weapons seem totally absent except for small wing spurs in three jacana species, present in both males and females. This poor female weaponry is in sharp contrast to the situation in species with conventional sex roles: males commonly have evolved sexually selected weapons as well as ornaments. At the same time, females in many taxa have naturally selected weapons, used in competition over resources or in predator defence. Why are sexually selected weapons then so rare, almost absent, in females? Here I briefly review weaponry in females and the function of these weapons, conclude that the near absence of sexually selected weapons begs an explanation, and suggest that costs of sexually selected weapons may exceed costs of ornaments. Females are more constrained when evolving sexually selected traits compared to males, at least compared to those males that do not provide direct benefits, as trait costs reduce a female’s fecundity. I suggest that this constraining trade-off between trait and fecundity restricts females to evolve ornaments but rarely weapons. The same may apply to paternally investing males. Whether sexually selected weapons actually are more costly than sexually selected ornaments remains to be investigated [Current Zoology 59 (4: 564–568, 2013].
Ren, Yanna; Suzuki, Keisuke; Yang, Weiping; Ren, Yanling; Wu, Fengxia; Yang, Jiajia; Takahashi, Satoshi; Ejima, Yoshimichi; Wu, Jinglong; Hirata, Koichi
The basal ganglia, which have been shown to be a significant multisensory hub, are disordered in Parkinson's disease (PD). This study was to investigate the audiovisual integration of peripheral stimuli in PD patients with/without sleep disturbances. Thirty-six age-matched normal controls (NC) and 30 PD patients were recruited for an auditory/visual discrimination experiment. The mean response times for each participant were analyzed using repeated measures ANOVA and race model. The results showed that the response to all stimuli was significantly delayed for PD compared to NC (all p audiovisual stimuli was significantly faster than that to unimodal stimuli in both NC and PD ( p audiovisual integration was absent in PD; however, it did occur in NC. Further analysis showed that there was no significant audiovisual integration in PD with/without cognitive impairment or in PD with/without sleep disturbances. Furthermore, audiovisual facilitation was not associated with Hoehn and Yahr stage, disease duration, or the presence of sleep disturbances (all p > 0.05). The current results showed that audiovisual multisensory integration for peripheral stimuli is absent in PD regardless of sleep disturbances and further suggested the abnormal audiovisual integration might be a potential early manifestation of PD.
Wuehr, M; Schniepp, R; Pradhan, C; Ilmberger, J; Strupp, M; Brandt, T; Jahn, K
Healthy persons exhibit relatively small temporal and spatial gait variability when walking unimpeded. In contrast, patients with a sensory deficit (e.g., polyneuropathy) show an increased gait variability that depends on speed and is associated with an increased fall risk. The purpose of this study was to investigate the role of vision in gait stabilization by determining the effects of withdrawing visual information (eyes closed) on gait variability at different locomotion speeds. Ten healthy subjects (32.2 ± 7.9 years, 5 women) walked on a treadmill for 5-min periods at their preferred walking speed and at 20, 40, 70, and 80 % of maximal walking speed during the conditions of walking with eyes open (EO) and with eyes closed (EC). The coefficient of variation (CV) and fractal dimension (α) of the fluctuations in stride time, stride length, and base width were computed and analyzed. Withdrawing visual information increased the base width CV for all walking velocities (p < 0.001). The effects of absent visual information on CV and α of stride time and stride length were most pronounced during slow locomotion (p < 0.001) and declined during fast walking speeds. The results indicate that visual feedback control is used to stabilize the medio-lateral (i.e., base width) gait parameters at all speed sections. In contrast, sensory feedback control in the fore-aft direction (i.e., stride time and stride length) depends on speed. Sensory feedback contributes most to fore-aft gait stabilization during slow locomotion, whereas passive biomechanical mechanisms and an automated central pattern generation appear to control fast locomotion.
Sylvain W. Lapan
Full Text Available Among the millions of invertebrate species with visual systems, the genetic basis of eye development and function is well understood only in Drosophila melanogaster. We describe an eye transcriptome for the planarian Schmidtea mediterranea. Planarian photoreceptors expressed orthologs of genes required for phototransduction and microvillus structure in Drosophila and vertebrates, and optic pigment cells expressed solute transporters and melanin synthesis enzymes similar to those active in the vertebrate retinal pigment epithelium. Orthologs of several planarian eye genes, such as bestrophin-1 and Usher syndrome genes, cause eye defects in mammals when perturbed and were not previously described to have roles in invertebrate eyes. Five previously undescribed planarian eye transcription factors were required for normal eye formation during head regeneration. In particular, a conserved, transcription-factor-encoding ovo gene was expressed from the earliest stages of eye regeneration and was required for regeneration of all cell types of the eye.
Lapan, Sylvain W; Reddien, Peter W
Among the millions of invertebrate species with visual systems, the genetic basis of eye development and function is well understood only in Drosophila melanogaster. We describe an eye transcriptome for the planarian Schmidtea mediterranea. Planarian photoreceptors expressed orthologs of genes required for phototransduction and microvillus structure in Drosophila and vertebrates, and optic pigment cells expressed solute transporters and melanin synthesis enzymes similar to those active in the vertebrate retinal pigment epithelium. Orthologs of several planarian eye genes, such as bestrophin-1 and Usher syndrome genes, cause eye defects in mammals when perturbed and were not previously described to have roles in invertebrate eyes. Five previously undescribed planarian eye transcription factors were required for normal eye formation during head regeneration. In particular, a conserved, transcription-factor-encoding ovo gene was expressed from the earliest stages of eye regeneration and was required for regeneration of all cell types of the eye. Copyright © 2012 The Authors. Published by Elsevier Inc. All rights reserved.
Cronn, Richard; Dolan, Peter C; Jogdeo, Sanjuro; Wegrzyn, Jill L; Neale, David B; St Clair, J Bradley; Denver, Dee R
Perennial growth in plants is the product of interdependent cycles of daily and annual stimuli that induce cycles of growth and dormancy. In conifers, needles are the key perennial organ that integrates daily and seasonal signals from light, temperature, and water availability. To understand the relationship between seasonal cycles and seasonal gene expression responses in conifers, we examined diurnal and circannual needle mRNA accumulation in Douglas-fir (Pseudotsuga menziesii) needles at diurnal and circannual scales. Using mRNA sequencing, we sampled 6.1 × 10 9 reads from 19 trees and constructed a de novo pan-transcriptome reference that includes 173,882 tree-derived transcripts. Using this reference, we mapped RNA-Seq reads from 179 samples that capture daily and annual variation. We identified 12,042 diurnally-cyclic transcripts, 9299 of which showed homology to annotated genes from other plant genomes, including angiosperm core clock genes. Annual analysis revealed 21,225 circannual transcripts, 17,335 of which showed homology to annotated genes from other plant genomes. The timing of maximum gene expression is associated with light intensity at diurnal scales and photoperiod at annual scales, with approximately half of transcripts reaching maximum expression +/- 2 h from sunrise and sunset, and +/- 20 days from winter and summer solstices. Comparisons with published studies from other conifers shows congruent behavior in clock genes with Japanese cedar (Cryptomeria), and a significant preservation of gene expression patterns for 2278 putative orthologs from Douglas-fir during the summer growing season, and 760 putative orthologs from spruce (Picea) during the transition from fall to winter. Our study highlight the extensive diurnal and circannual transcriptome variability demonstrated in conifer needles. At these temporal scales, 29% of expressed transcripts show a significant diurnal cycle, and 58.7% show a significant circannual cycle. Remarkably
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Diabetic retinopathy - eye exams; Diabetes - eye exams; Glaucoma - diabetic eye exam; Macular edema - diabetic eye exam ... if the doctor who takes care of your diabetes checks your eyes, you need an eye exam ...
Full Text Available Although the human genome project has been completed for some time, the issue of the number of transcribed genes with identifiable biological functions remains unresolved. We used zebrafish as a model organism to study the functions of Ka/Ks-predicted novel human exons, which were identified from a comparative evolutionary genomics analysis.In this study, a novel gene, designated as puf-A, was cloned and functionally characterized, and its homologs in zebrafish, mouse, and human were identified as one of the three homolog clusters which were consisted of 14 related proteins with Puf repeats. Computer modeling of human Puf-A structure and a pull-down assay for interactions with RNA targets predicted that it was a RNA-binding protein. Specifically, Puf-A contained a special six Puf-repeat domain, which constituted a unique superhelix half doughnut-shaped Puf domain with a topology similar to, but different from the conventional eight-repeat Pumilio domain. Puf-A transcripts were uniformly distributed in early embryos, but became restricted primarily to eyes and ovaries at a later stage of development. In mice, puf-A expression was detected primarily in retinal ganglion and pigmented cells. Knockdown of puf-A in zebrafish embryos resulted in microphthalmia, a small head, and abnormal primordial germ-cell (PGC migration. The latter was confirmed by microinjecting into embryos puf-A siRNA containing nanos 3' UTR that expressed in PGC only. The importance of Puf-A in the maturation of germline stem cells was also implicated by its unique expression in the most primitive follicles (stage I in adult ovaries, followed by a sharp decline of expression in later stages of folliculogenesis. Taken together, our study shows that puf-A plays an important role not only in eye development, but also in PGC migration and the specification of germ cell lineage. These studies represent an exemplary implementation of a unique platform to uncover unknown function(s of
Arcanjo, Caroline; Armant, Olivier; Floriani, Magali; Cavalie, Isabelle; Camilleri, Virginie; Simon, Olivier; Orjollet, Daniel; Adam-Guillermin, Christelle; Gagnaire, Béatrice
Tritium ( 3 H) is a radioactive isotope of hydrogen. In the environment, the most common form of tritium is tritiated water (HTO). The present study aimed to identify early biomarkers of HTO contamination through the use of an aquatic model, the zebrafish (Danio rerio). We used the zebrafish embryo-larvae model to investigate the modes of action of HTO exposure at dose rates of 0.4 and 4 mGy/h, dose rates expected to induce deleterious effects on fish. Zebrafish were exposed to HTO from 3 hpf (hours post fertilization) to 96 hpf. The transcriptomic effects were investigated 24 h and 96 h after the beginning of the contamination, using mRNAseq. Results suggested an impact of HTO contamination, regardless of the dose rate, on genes involved in muscle contraction (tnnt2d, tnni2a.4, slc6a1a or atp2a1l) and eye opacity (crygm2d9, crygmxl1, mipb or lim2.3) after 24 h of contamination. Interestingly, an opposite differential expression was highlighted in genes playing a role in muscle contraction and eye opacity in 24 hpf embryos when comparing dose rates, suggesting an onset of DNA protective mechanisms. The expression of h2afx and ddb2 involved in DNA repair was enhanced in response to HTO exposure. The entrainment of circadian clock and the response to H 2 O 2 signalling pathways were enriched at 96 hpf at 0.4 mGy/h and in both stages after 4 mGy/h. Genes involved in ROS scavenging were differentially expressed only after 24 h of exposure for the lowest dose rate, suggesting the onset of early protective mechanisms against oxidative stress. Effects highlighted on muscle at the molecular scale were confirmed at a higher biological scale, as electron microscopy observations revealed sarcomere impairments in 96 hpf larvae for both dose rates. Together with other studies, the present work provides useful data to better understand modes of action of tritium on zebrafish embryos-larvae. Copyright © 2018 Elsevier B.V. All rights reserved.
Abt, Elliot; Carr, Alan B; Worthington, Helen V
Management of individuals presenting with partial loss of teeth is a common task for dentists. Outcomes important to the management of missing teeth in the partially absent dentition should be systematically summarized. This review recognizes both the challenges associated with such a summarization and the critical nature of the information for patients. To assess the effects of different prostheses for the treatment of partially absent dentition in terms of the following outcomes: long-term success, function, morbidity and patient satisfaction. We searched the Cochrane Oral Health Group's Trials Register (to 21 March 2011), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2011, Issue 1), MEDLINE via OVID (1950 to March 2011) and EMBASE via OVID (1980 to March 2011). There were no restrictions regarding language or date of publication. We contacted several authors to identify non-published trials. Randomized controlled trials (RCTs) comparing different methods (including the design and materials used) of treating partial edentulism, with clinically relevant outcomes, were included in this review. Trials reporting only surrogate outcomes, such as plaque accumulation or gingival volume, were excluded from this review. Two review authors independently carried out the screening of eligible studies, assessment of dimensions of quality of trials, and data extraction. Results were expressed as mean differences for continuous data, risk ratios for dichotomous outcomes, and hazard ratios with 95% confidence intervals for time-to-event data. Twenty-one trials met the inclusion criteria for this review. Twenty-four per cent of these were assessed as being at high risk of bias and the remainder were at unclear risk of bias. The clinical heterogeneity among the included studies precluded any attempt at meta-analysis. There was insufficient evidence to determine whether one type of removable dental prosthesis (RDP) was better or worse than
Cronn, Richard; Dolan, Peter C.; Jogdeo, Sanjuro; Wegrzyn, Jill L.; Neale, David B.; St. Clair, J. Bradley; Denver, Dee R.
Background Perennial growth in plants is the product of interdependent cycles of daily and annual stimuli that induce cycles of growth and dormancy. In conifers, needles are the key perennial organ that integrates daily and seasonal signals from light, temperature, and water availability. To understand the relationship between seasonal cycles and seasonal gene expression responses in conifers, we examined diurnal and circannual needle mRNA accumulation in Douglas-fir (Pseudotsuga menziesii) n...
Dolan, Peter; Cronn, Richard; Denver, Dee; Clair, J.; Neale, David; Wegrzyn, Jill; Jogdeo, Sanjuro
Background: Perennial growth in plants is the product of interdependent cycles of daily and annual stimuli that induce cycles of growth and dormancy. In conifers, needles are the key perennial organ that integrates daily and seasonal signals from light, temperature, and water availability. To understand the relationship between seasonal rhythms and seasonal gene expression responses in conifers, we examined diurnal and circannual needle mRNA accumulation in Douglas-fir (Pseudotsuga menziesii)...
It is argued that the method of basing estimates of the risks of populations exposed to radiation under normal, peace-time activities, on the results obtained from A-bomb survivors may not be justified. Among the survivors there is a definite dose-related increase in the number of malignancies but other radiation effects such as increase in the incidence of leukaemia in children exposed in utero, genetic effects in children conceived by survivors and general increase in mortality, are conspicuously absent. It is felt that estimates of radiation effects on survivors indicate a difference in response to radiation, as far as leukaemia is concerned, between persons exposed to radiation alone, and those who were also subject to mechanical injuries and heat burns. Together with the absence of other expected effects of radiation, and the lower cancer incidence, this indicates that A-bomb victims cannot be assumed a priori to behave in response to radiation in the same way as those exposed to radiation alone, without accompanying physical, psychological and social traumata. Estimates of radiation risk based on observations on the A-bomb survivors may thus turn out to be too low, by a considerable margin. (U.K.)
Ana Luisa Cruz
Full Text Available The possibilities within notions of the object constitute a special area of interest in my research. As I have come to see it, the object is bounded by – and yet comes to alter- views of representation/re-presentation; it contributes towards academic thinking through its capacity for democratizing and bridging itself towards others – yet it has a history of failing in the exchange of everyday gestures with places seemingly remote from the academia. Although accused of resolution and impermeability, I admittedly cannot part with the word ‘object’. And this creates a tension in my work with photography, where I attempt to articulate a personal view of the photograph as something ultimately unfixed. In this view, writing and photography extend continuously and reciprocally into the virtual and the physical from gestures before the photograph and before the word. This text reflects on these tensions, drawing on notions of affect, potentiality and on ethics to discover traces of the other suggested in the physical, but also the imaginary surface of an object. Following Sherry Turkle’s notion of ‘object’ as evocative, in this text ‘the things I think with’ form narratives that reflect the absence of other(s, and the escaping capacity of absent objects in and out of words.
Gakière, Bertrand; Fernie, Alisdair R; Pétriacq, Pierre
Since its discovery more than a century ago, nicotinamide adenine dinucleotide (NAD + ) is recognised as a fascinating cornerstone of cellular metabolism. This ubiquitous energy cofactor plays vital roles in metabolic pathways and regulatory processes, a fact emphasised by the essentiality of a balanced NAD + metabolism for normal plant growth and development. Research on the role of NAD in plants has been predominantly carried out in the model plant Arabidopsis thaliana (Arabidopsis) with emphasis on the redox properties and cellular signalling functions of the metabolite. This review examines the current state of knowledge concerning how NAD can regulate both metabolic pools and gene expression in Arabidopsis. Particular focus is placed on recent studies highlighting the complexity of metabolic regulations involving NAD, more particularly in the mitochondrial compartment, and of signalling roles with respect to interactions with environmental fluctuations most specifically those involving plant immunity. Copyright © 2018 Elsevier Inc. All rights reserved.
... that you could lose your vision. Most eye injuries are preventable. If you play sports or work in certain jobs, you may need protection. The most common type of injury happens when something irritates the ...
... different ages. In: Lambert SR, Lyons CJ, eds. Taylor and Hoyt's Pediatric Ophthalmology and Strabismus . 5th ed. Philadelphia, PA: Elsevier; 2017:chap 96. Orge FH, Grigorian F. Examination and common problems of the neonatal eye. ...
Full Text Available ... Stories Español Eye Health / Eye Health A-Z Dry Eye Sections What Is Dry Eye? Dry Eye Symptoms ... of Dry Eye Dry Eye Treatment What Is Dry Eye? Leer en Español: ¿Qué es el ojo seco? ...
Full Text Available ... Español Eye Health / Eye Health A-Z Dry Eye Sections What Is Dry Eye? Dry Eye Symptoms ... Dry Eye Dry Eye Treatment What Is Dry Eye? Leer en Español: ¿Qué es el ojo seco? ...
Askou, Anne Louise; Alsing, Sidsel; Holmgaard, Andreas; Bek, Toke; Corydon, Thomas J
MicroRNAs (miRNAs) are key regulators of gene expression in humans. Overexpression or depletion of individual miRNAs is associated with human disease. Current knowledge suggests that the retina is influenced by miRNAs and that dysregulation of miRNAs as well as alterations in components of the miRNA biogenesis machinery are involved in retinal diseases, including age-related macular degeneration (AMD). Furthermore, recent studies have indicated that the vitreous has a specific panel of circulating miRNAs and that this panel varies according to the specific pathological stress experienced by the retinal cells. MicroRNA (miRNA) profiling indicates subtype-specific miRNA profiles for late-stage AMD highlighting the importance of proper miRNA regulation in AMD. This review will describe the function of important miRNAs involved in inflammation, oxidative stress and pathological neovascularization, the key molecular mechanisms leading to AMD, and focus on dysregulated miRNAs as potential therapeutic targets in AMD. © 2017 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
Full Text Available In Bilateria, Pax6, Six, Eya and Dach families of transcription factors underlie the development and evolution of morphologically and phyletically distinct eyes, including the compound eyes in Drosophila and the camera-type eyes in vertebrates, indicating that bilaterian eyes evolved under the strong influence of ancestral developmental gene regulation. However the conservation in eye developmental genetics deeper in the Eumetazoa, and the origin of the conserved gene regulatory apparatus controlling eye development remain unclear due to limited comparative developmental data from Cnidaria. Here we show in the eye-bearing scyphozoan cnidarian Aurelia that the ectodermal photosensory domain of the developing medusa sensory structure known as the rhopalium expresses sine oculis (so/six1/2 and eyes absent/eya, but not optix/six3/6 or pax (A&B. In addition, the so and eya co-expression domain encompasses the region of active cell proliferation, neurogenesis, and mechanoreceptor development in rhopalia. Consistent with the role of so and eya in rhopalial development, developmental transcriptome data across Aurelia life cycle stages show upregulation of so and eya, but not optix or pax (A&B, during medusa formation. Moreover, pax6 and dach are absent in the Aurelia genome, and thus are not required for eye development in Aurelia. Our data are consistent with so and eya, but not optix, pax or dach, having conserved functions in sensory structure specification across Eumetazoa. The lability of developmental components including Pax genes relative to so-eya is consistent with a model of sense organ development and evolution that involved the lineage specific modification of a combinatorial code that specifies animal sense organs.
... layer of tissue underneath the retina that contains connective tissue and melanocytes, which are pigmented (colored) cells, and nourishes the inside of the eye. The choroid is the most common site for a tumor. Types of intraocular cancer The most common intraocular cancer in adults is ...
Feb 2, 2011 ... Note your findings in an orderly fashion: orbit, lids, conjunctiva, cornea, anterior chamber, iris, pupil reaction, lens, fundus. • Stain cornea with fluorescein. It is advisable to examine the eye as soon as possible since a delay will invariably lead to lid swelling, making the examination far more difficult. This can ...
Chyzh, Igor H.; Sokurenko, Vyacheslav M.; Osipova, Irina Y.
The influence eye micromotions on the accuracy of estimation of Zernike coefficients form eye transverse aberration measurements was investigated. By computer modeling, the following found eye aberrations have been examined: defocusing, primary astigmatism, spherical aberration of the 3rd and the 5th orders, as well as their combinations. It was determined that the standard deviation of estimated Zernike coefficients is proportional to the standard deviation of angular eye movements. Eye micromotions cause the estimation errors of Zernike coefficients of present aberrations and produce the appearance of Zernike coefficients of aberrations, absent in the eye. When solely defocusing is present, the biggest errors, cased by eye micromotions, are obtained for aberrations like coma and astigmatism. In comparison with other aberrations, spherical aberration of the 3rd and the 5th orders evokes the greatest increase of the standard deviation of other Zernike coefficients.
Leeuw, N. de; Bulk, S.; Green, A.; Jaeckle-Santos, L.; Baker, L.A.; Zinn, A.R.; Kleefstra, T.; Smagt, J.J. van der; Vianne Morgante, A.M.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies
Morrison, Carolyn A.; Chen, Hao; Cook, Tiffany; Brown, Stuart
Transcriptional regulators can specify different cell types from a pool of equivalent progenitors by activating distinct developmental programs. The Glass transcription factor is expressed in all progenitors in the developing Drosophila eye, and is maintained in both neuronal and non-neuronal cell types. Glass is required for neuronal progenitors to differentiate as photoreceptors, but its role in non-neuronal cone and pigment cells is unknown. To determine whether Glass activity is limited to neuronal lineages, we compared the effects of misexpressing it in neuroblasts of the larval brain and in epithelial cells of the wing disc. Glass activated overlapping but distinct sets of genes in these neuronal and non-neuronal contexts, including markers of photoreceptors, cone cells and pigment cells. Coexpression of other transcription factors such as Pax2, Eyes absent, Lozenge and Escargot enabled Glass to induce additional genes characteristic of the non-neuronal cell types. Cell type-specific glass mutations generated in cone or pigment cells using somatic CRISPR revealed autonomous developmental defects, and expressing Glass specifically in these cells partially rescued glass mutant phenotypes. These results indicate that Glass is a determinant of organ identity that acts in both neuronal and non-neuronal cells to promote their differentiation into functional components of the eye. PMID:29324767
... Disease, & Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetic Eye Disease What is diabetic eye disease? Diabetic eye disease is a group ... eye diseases that can threaten your sight are Diabetic retinopathy The retina is the inner lining at ...
Full Text Available ... eye behind the iris that helps to focus light on the retina. It allows the eye to ... of the eye. It regulates the amount of light entering the eye through the pupil. Pupil (PYOO- ...
... work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder ... in "crossed eyes" or "walleye." Nystagmus - fast, uncontrollable movements of the eyes, sometimes called "dancing eyes" Some ...
Full Text Available ... for Kids >> About the Eye Listen All About Vision About the Eye Ask a Scientist Video Series ... Eye Health and Safety First Aid Tips Healthy Vision Tips Protective Eyewear Sports and Your Eyes Fun ...
... for Educators Search English Español Why Do Eyes Water? KidsHealth / For Kids / Why Do Eyes Water? What's ... coming out of your nose. Why Do Eyes Water? Eyes water for lots of different reasons besides ...
First page Back Continue Last page Overview Graphics. Molecular Genetic Studies of Some Eye Diseases Affecting the Indian Population. Single gene disorders. Complex eye diseases. Genotype-phenotype correlation. Molecular diagnostics.
Full Text Available ... Eye Health A-Z Symptoms Glasses & Contacts Tips & Prevention News Ask an Ophthalmologist Patient Stories Español Eye ... Eye Symptoms Causes of Dry Eye Dry Eye Treatment What Is Dry Eye? Leer en Español: ¿Qué ...
Full Text Available ... Eye? Dry Eye Symptoms Causes of Dry Eye Dry Eye Treatment What Is Dry Eye? Leer en Español: ¿Qué ... Inside of Your Eyelid Nov 29, 2017 New Dry Eye Treatment is a Tear-Jerker Jul 21, 2017 Three ...
... Eye? Dry Eye Symptoms Causes of Dry Eye Dry Eye Treatment What Is Dry Eye? Leer en Español: ¿Qué ... Inside of Your Eyelid Nov 29, 2017 New Dry Eye Treatment is a Tear-Jerker Jul 21, 2017 Three ...
Stewart, Susan D.
Examines gender differences in how nonresident parents spend time with their absent children. Results suggest that nonresident mothers and fathers exhibit a similar pattern of participation in activities with their absent children. Most nonresident parents either engage in only leisure activities with their children or have no contact. (Author/MKA)
... 42 Public Health 2 2010-10-01 2010-10-01 false Alien absent from the United States. 410.175... Alien absent from the United States. (a) Medicare does not pay Part B benefits for services furnished to... during the first full calendar month the alien is back in the United States. [53 FR 6634, Mar. 2, 1988] ...
Full Text Available Icons are eye-cons: they provide a distillation of a complex object or idea into a simple pictorial shape. They create the impression of representing that which cannot be presented. Even at the level of the photograph, the links between icon and object are tenuous. The dimension of distance or depth is missing from the icon, and this alone introduces all manner of potential ambiguities. The history of art can be considered as an exploration of the missing link between icon and object. Eye-cons are more honest—they are tricks of vision so that what is seen does not necessarily correspond to what is presented. They are visual allusions rather than visual illusions, although they can display illusory effects. At its broadest, icon can be equated with image. The concept of image has thrived on its vagueness, and so attempts have been made to refine it. An icon corresponds to an optical image: it shares some of the projective characteristics of the object represented. Written words are also icons but they do not resemble the objects they represent—they are stylised or conventional rather than spatialised and projective. Words and images were set in delightful opposition by René Magritte (1898-1967 in a series of pipe paintings, and he also played on the theme of the arbitrariness of the verbal labels assigned to objects. What is surprising is that Magritte did not apply his painterly skills to transforming the word shapes he used. A similar reluctance to transform the typefaces pervades visual poetry. My interests are in the visual rather than the poetic dimension, and I will present a range of my own eye contricks which play with letter and word shapes in a variety of ways.
Miguel Pérez, Silvia de
El concepto de Eye-Tracking hace referencia a un conjunto de tecnologías que permiten monitorizar y registrar la forma en la que una persona mira una determinada escena o imagen, en concreto en qué áreas fija su atención, durante cuánto tiempo y qué orden sigue en su exploración visual. Existe una gran variedad tecnológica de sistemas de Eye-Tracking, cada uno con sus propias ventajas e inconvenientes. Entre los sistemas basados en videooculografía existen dos grupos: aquellos ...
Uchino, Akira; Uwabe, Kazuhiko; Osawa, Iichiro
Rarely, the external and internal carotid arteries arise separately from the brachiocephalic trunk and right subclavian artery (SA) or the aortic arch and reflect the absence of a common carotid artery (CCA). We report a 45-year-old man with absent right CCA associated with aberrant right SA, an extremely rare combination, diagnosed by computed tomography (CT) angiography during follow-up for postoperative aortic dissection. Retrospective careful observation of preoperative postcontrast CT revealed the absent right CCA. Previously reported arch variations associated with absent CCA include cervical aortic arch, double aortic arch, and right aortic arch.
Pineda, D.; Gonzalez, J.; Callaerts, P.; Ikeo, K.; Gehring, W. J.; Salo, E.
We have identified a sine oculis gene in the planarian Girardia tigrina (Platyhelminthes; Turbellaria; Tricladida). The planarian sine oculis gene (Gtso) encodes a protein with a sine oculis (Six) domain and a homeodomain that shares significant sequence similarity with so proteins assigned to the Six-2 gene family. Gtso is expressed as a single transcript in both regenerating and fully developed eyes. Whole-mount in situ hybridization studies show exclusive expression in photoreceptor cells. Loss of function of Gtso by RNA interference during planarian regeneration inhibits eye regeneration completely. Gtso is also essential for maintenance of the differentiated state of photoreceptor cells. These results, combined with the previously demonstrated expression of Pax-6 in planarian eyes, suggest that the same basic gene regulatory circuit required for eye development in Drosophila and mouse is used in the prototypic eye spots of platyhelminthes and, therefore, is truly conserved during evolution. PMID:10781056
Full Text Available ... Tips & Prevention News Ask an Ophthalmologist Patient Stories Español Eye Health / Eye Health A-Z Dry Eye ... Eye Treatment What Is Dry Eye? Leer en Español: ¿Qué es el ojo seco? Written By: Kierstan ...
Full Text Available ... Eye Symptoms Causes of Dry Eye Dry Eye Treatment What Is Dry Eye? Leer en Español: ¿Qué ... Your Eyelid Nov 29, 2017 New Dry Eye Treatment is a Tear-Jerker Jul 21, 2017 Three ...
Bags under eyes Overview Bags under eyes — mild swelling or puffiness under the eyes — are common as you age. With aging, the tissues around your ... space below your eyes, adding to the swelling. Bags under eyes are usually a cosmetic concern and ...
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Full Text Available ... your eye. It helps your eye focus light so things look sharp and clear. Sclera (SKLEH-ruh) ... the different parts of your eye work together so you can see and make sense of the ...
Full Text Available ... Glossary The Visual System Your Eyes’ Natural Defenses Eye Health and Safety First Aid Tips Healthy Vision ... to More Information Optical Illusions Printables About the Eye Your eyes are made up of many different ...
Abnormal results may point to: Abnormal tear production (dry eye) Blocked tear duct Corneal abrasion (a scratch on ... object in eye ) Infection Injury or trauma Severe dry eye associated with arthritis (keratoconjunctivitis sicca)
Full Text Available ... Member Services Advocacy Foundation About Subspecialties & More Eye Health Home Annual Meeting Clinical Education Practice Management Member ... Center Redmond Ethics Center Global Ophthalmology Guide Eye Health Find an Ophthalmologist Academy Store Eye Health A- ...
Full Text Available ... Ophthalmology/Strabismus Ocular Pathology/Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis Focus On ... Dry Eye Sections What Is Dry Eye? Dry Eye Symptoms Causes of ...
Full Text Available ... Dry Eye Symptoms Related Ask an Ophthalmologist Answers Can a six-month dissolvable punctal plug be removed ... my eyes dry after LASIK? Jun 19, 2016 Can I be tested whether I close my eyes ...
... National Standards Institute (ANSI) to meet their eye protection standards. If an eye injury occurs, see an ophthalmologist or go to the emergency room immediately, even if the eye injury appears minor. Delaying medical attention can result in permanent vision ...
Laique, Sobia; Singh, Tavankit; Dornblaser, David; Gadre, Abhishek; Rangan, Vikram; Fass, Ronnie; Kirby, Donald; Chatterjee, Soumya; Gabbard, Scott
This study was carried out to assess the clinical characteristics and associated systemic diseases seen in patients diagnosed with absent contractility as per the Chicago Classification version 3.0, allowing us to propose a diagnostic algorithm for their etiologic testing. The Chicago Classification version 3.0 has redefined major and minor esophageal motility disorders using high-resolution esophageal manometry. There is a dearth of publications based on research on absent contractility, which historically has been associated with myopathic processes such as systemic sclerosis (SSc). We conducted a retrospective, multicenter study. Data of patients diagnosed with absent contractility were pooled from Cleveland Clinic, Cleveland, OH (January 2006 to July 2016) and Metrohealth Medical Center, Cleveland, OH (July 2014 to July 2016) and included: age, gender, associated medical conditions, surgical history, medications, and specific antibody testing. A total of 207 patients, including 57 male individuals and 150 female individuals, with mean age of 56.1 and 60.0 years, respectively, were included. Disease distribution was as follows: SSc (diffuse or limited cutaneous) 132, overlap syndromes 7, systemic lupus erythematosus17, Sjögren syndrome 4, polymyositis 3, and dermatomyositis 3. Various other etiologies including gastroesophageal reflux disease, postradiation esophagitis, neuromuscular disorders, and surgical complications were seen in the remaining cohort. Most practitioners use the term "absent contractility" interchangeably with "scleroderma esophagus"; however, only 63% of patients with absent contractility had SSc. Overall, 20% had another systemic autoimmune rheumatologic disease and 16% had a nonrheumatologic etiology for absent contractility. Therefore, alternate diagnosis must be sought in these patients. We propose an algorithm for their etiologic evaluation.
Full Text Available Context: Dysplastic pulmonary valve stenosis is a less common variety of valvular pulmonary stenosis. It is known to be part of Noonan syndrome. Bony hand anomalies in patients of pulmonary stenosis are very rare. Case report: A 50-year-old lady, with no significant past history, presented with slowly progressive breathlessness and fatigue, and had progressed from NYHA class 1 to 2 over 2 years. She had unilateral absent first metacarpal and diagnosed on workup to have dysplastic pulmonary valve stenosis and was treated with balloon valvuloplasty. Conclusion: Dysplastic pulmonary valve stenosis can rarely be associated with bony hand anomalies like absent first metacarpal.
Jia, Changkai; Zhang, Feng; Zhu, Ying; Qi, Xia; Wang, Yiqiang
Matrix-remodeling associated 7 (MXRA7) gene was first reported in 2002 and named so for its co-expression with several genes known to relate with matrix-remodeling. However, not any studies had been intentionally performed to characterize this gene. We started defining the functions of MXRA7 by integrating bioinformatics analysis and experimental study. Data mining of MXRA7 expression in BioGPS, Gene Expression Omnibus and EurExpress platforms highlighted high level expression of Mxra7 in murine ocular tissues. Real-time PCR was employed to measure Mxra7 mRNA in tissues of adult C57BL/6 mice and demonstrated that Mxra7 was preferentially expressed at higher level in retina, corneas and lens than in other tissues. Then the inflammatory corneal neovascularization (CorNV) model and fungal corneal infections were induced in Balb/c mice, and mRNA levels of Mxra7 as well as several matrix-remodeling related genes (Mmp3, Mmp13, Ecm1, Timp1) were monitored with RT-PCR. The results demonstrated a time-dependent Mxra7 under-expression pattern (U-shape curve along timeline), while all other matrix-remodeling related genes manifested an opposite changes pattern (dome-shape curve). When limited data from BioGPS concerning human MXRA7 gene expression in human tissues were looked at, it was found that ocular tissue was also the one expressing highest level of MXRA7. To conclude, integrative assay of MXRA7 gene expression in public databank as well as domestic animal models revealed a selective high expression MXRA7 in murine and human ocular tissues, and its change patterns in two corneal disease models implied that MXRA7 might play a role in pathological processes or diseases involving injury, neovascularization and would healing. Copyright © 2017 Elsevier B.V. All rights reserved.
U.S. Department of Health & Human Services — Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes,...
Osina, Maria A.; Saylor, Megan M.; Ganea, Patricia A.
Three experiments that demonstrate a novel constraint on infants' language skills are described. Across the experiments it is shown that as babies near their 1st birthday, their ability to respond to talk about an absent object is influenced by a referent's spatiotemporal history: familiarizing infants with an object in 1 or several nontest…
Pedersen, Frank A.
The most frequently employed research design for studying paternal influences on child development has been to compare children reared in father-absent families to those reared in father-present families. Research should be directed to the study and conceptualization of the more specific components of experience in the father-child and…
Full Text Available Research from evolutionary psychology suggests that the mere presence of eye images can promote prosocial behavior. However, the “eye images effect” is a source of considerable debate, and findings across studies have yielded somewhat inconsistent support. We suggest that one critical factor may be whether the eyes really need to be watching to effectively enhance prosocial behavior. In three experiments, we investigated the impact of eye images on prosocial behavior, assessed in a laboratory setting. Participants were randomly assigned to view an image of watching eyes (eyes with direct gaze, an image of nonwatching eyes (i.e., eyes closed for Study 1 and averted eyes for Studies 2 and 3, or an image of flowers (control condition. Upon exposure to the stimuli, participants decided whether or not to help another participant by completing a dull cognitive task. Three independent studies produced somewhat mixed results. However, combined analysis of all three studies, with a total of 612 participants, showed that the watching component of the eyes is important for decision-making in this context. Images of watching eyes led to significantly greater inclination to offer help as compared to images of nonwatching eyes (i.e., eyes closed and averted eyes or images of flowers. These findings suggest that eyes gazing at an individual, rather than any proxy to social presence (e.g., just the eyes, serve as a reminder of reputation. Taken together, we conclude that it is “eyes that pay attention” that can lift the veil of anonymity and potentially facilitate prosocial behavior.
Tears are an important component in providing moisture and lubrication for the eyes, thereby maintaining vision and comfort. Dry eyes (keratoconjunctivitis sicca) result when there is either decreased production of tears or by poor tear quality which in turn lead to more rapid evaporation.
Full Text Available ... Kierstan Boyd Reviewed By: Brenda Pagan-Duran MD Sep. 01, 2017 Our eyes need tears to stay ... tear duct to insert a permanent punctal plug? Sep 12, 2017 Why are my eyes bloodshot when ...
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... or child care if you're not able to take time off — just stay consistent in practicing good hygiene. Preventing pink eye in newborns Newborns' eyes are susceptible to bacteria normally present in the mother's birth canal. ...
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... eye involvement. Nonretinal and Retinal Eye Findings Facial angiofibromas may involve the eyelids of individuals with TSC, ... the hamartomas have many blood vessels (as are angiofibromas of the skin). Less than half of the ...
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Mengel-From, Jonas; Børsting, Claus; Sanchez, Juan J
Prediction of human eye colour by forensic genetic methods is of great value in certain crime investigations. Strong associations between blue/brown eye colour and the SNP loci rs1129038 and rs12913832 in the HERC2 gene were recently described. Weaker associations between eye colour and other...... genetic markers also exist. In 395 randomly selected Danes, we investigated the predictive values of various combinations of SNP alleles in the HERC2, OCA2 and MATP (SLC45A2) genes and compared the results to the eye colours as they were described by the individuals themselves. The highest predictive...
Weronika Ratajczak; Beata Tokarz-Deptuła; Wiesław Deptuła
The eye is an organ of sight characterized by unusual immunological properties, resulting from its anatomical structure and physiology, as well as the presence of specific elements that, through the mechanisms of innate and adaptive immunity, provide homeostasis of the eyeball. This article reviews the defensive elements of individual eye structures: conjunctiva, cornea, lacrimal gland, anterior chamber of the eye, uvea, retina and eye-associated lymphoid tissue (EALT), where we distinguish a...
Lenzner, Steffen; Prietz, Sandra; Feil, Silke; Nuber, Ulrike A; Ropers, H-Hilger; Berger, Wolfgang
Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP). The gene product is a cystine-knot-containing extracellular signaling molecule of unknown function. In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level. Gene transcription in the eyes of 2-year-old Ndp knockout mice was compared with that in the eyes of age-matched wild-type control animals, by means of cDNA subtraction and microarrays. Clones (n = 3072) from the cDNA subtraction libraries were spotted onto glass slides and hybridized with fluorescently labeled RNA-derived targets. More than 230 differentially expressed clones were sequenced, and their expression patterns were verified by virtual Northern blot analysis. Numerous gene transcripts that are absent or downregulated in the eye of Ndp knockout mice are photoreceptor cell specific. In younger Ndp knockout mice (up to 1 year old), however, all these transcripts were found to be expressed at normal levels. The identification of numerous photoreceptor cell-specific transcripts with a reduced expression in 2-year-old, but not in young, Ndp knockout mice indicates that normal gene expression in these light-sensitive cells of mutant mice is established and maintained over a long period and that rods and cones are affected relatively late in the mouse model of ND. Obviously, the absence of the Ndp gene product is not compatible with long-term survival of photoreceptor cells in the mouse.
Man Mohan Harjai
Full Text Available A common upper airway and digestive tract is a rare congenital anomaly that is usually fatal and its exact incidence is not known. It is a diagnostic challenge as it requires high index of suspicion. It should be considered in a neonate with respiratory distress in a non-vigorous baby requiring endotracheal intubation, which is difficult even in expert hand. We present a newborn with suspected tracheo-esophageal fistula that was diagnosed intraoperatively to have absent upper blind pouch of the esophagus and on autopsy found to have laryngeal atresia with absent vocal cords and a common aerodigestive tract continuing distally with trachea. The neonate was ventilated with endotracheal tube (ETT placement which in retrospect we came to know that it was in the esophagus. The neonate also had associated multiple congenital anomalies of VACTERL association. The importance of teamwork between neonatologist, pediatric surgeon, anesthesiologist, and radiologist is highlighted for diagnosis and management of such rare cases.
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare developmental failure of Müllerian ducts. Principle clinical features of MRKH syndrome are primary amenorrhoea associated with congenital absence of vagina, uterine anomalies, normal ovaries, 46 XX karyotype with normal female secondary sexual characteristics and frequent association with renal, skeletal, and other congenital anomalies. A case of a 3-year-old child with congenitally absent thumbs and big toes is reported herein; she was brought in with complaints of urinary incontinence. Radiological investigation (ultrasound and magnetic resonance imaging (MRI) scan) revealed absent uterus and vagina while both ovaries were normal. Intravenous urography (IVU) study showed bifid pelvicalyceal systems bilaterally. Karyotyping revealed a 46 XX female phenotype. Laparoscopy confirmed normal ovaries bilaterally and small unfused uterine buds lying beside both ovaries on each side of pelvis. Early diagnosis of MRKH syndrome is essential for timely planning of vaginal and (if possible) uterine reconstructive surgeries.
Bohn, Manuel; Zimmermann, Luise; Call, Josep; Tomasello, Michael
Recent evidence suggests that infants as young as 12 month of age use pointing to communicate about absent entities. The tacit assumption underlying these studies is that infants do so based on tracking what their interlocutor experienced in a previous shared interaction. The present study addresses this assumption empirically. In three experiments, 12-month-old infants could request additional desired objects by pointing to the location in which these objects were previously located. We systematically varied whether the adult from whom infants were requesting had previously experienced the former content of the location with the infant. Infants systematically adjusted their pointing to the now empty location to what they experienced with the adult previously. These results suggest that infants' ability to communicate about absent referents is based on an incipient form of common ground. Copyright © 2018 Elsevier B.V. All rights reserved.
Simmons, Cortney; Steinberg, Laurence; Frick, Paul J; Cauffman, Elizabeth
Researchers have identified father absence as a contributor to juvenile delinquency. Consequently, politicians and community leaders are making efforts to re-engage fathers. However, it is possible that the presence of fathers is not, in itself, a substantial protective factor and, in some cases, can even be more detrimental than father absence. Employing a diverse sample of male juvenile offenders in the U.S. (ages 13-17), the present study examined the differential effects of absent fathers and harsh fathers on delinquency. Results indicated that youth in the harsh-father group engaged in more offending behaviors and used more substances than youth in the absent-father group. This difference remained even after controlling for the mother-child relationship. Implications of these findings for future research and delinquency prevention programs are discussed. Copyright © 2017 The Foundation for Professionals in Services for Adolescents. Published by Elsevier Ltd. All rights reserved.
Koenderink, Jan J.
The All Seeing Eye? Did you know that you are probably a believer in the All Seeing Eye? The odds are that I’m right—why? Well, the bulk of mainstream vision literature blindly relies on the All Seeing Eye. It is written all over papers, albeit between the lines. Understandably so, for scientists
Full Text Available ... other programs with respect to blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight, and the special health ... Eye Ask a Scientist Video Series Glossary The Visual System Your Eyes’ Natural Defenses Eye Health and ...
Hudec, R.; Michalova, S.
We report on small student (high—school) project of the Czech Academy of Sciences dealing with animal (fish) eyes and possible application in science and technology. Albeit most fishes have refractive eyes, the recent discoveries confirm that some fishes have reflective eyes with strange arrangements as well.
Panfilova, G.V.; Koval', G.Yu.
Radioanatomy of eyes and orbit is described. Diseases of the orbit (developmental anomalies, inflammatory diseases, lacrimal apparatus deseases, toxoplasmosis, tumors and cysts et al.), methods of foreign body localization in the eye are considered. Roentgenograms of the orbit and calculation table for foreign body localization in spherical eyes of dissimilar diameter are presented
Tanaka, Yuki; Miyamoto, Takashi; Naito, Yuji; Yoshitake, Shuichi
The patient was a 3-month-old girl weighting 3.6 kg, diagnosed with tetralogy of Fallot and absent pulmonary valve syndrome. We surgically repaired the tetralogy of Fallot by patch closure of the ventricular septal defect, right ventricular outflow tract reconstruction using an expanded polytetrafluoroethylene monocusp patch with a bulging sinus, and removal of the bronchial obstruction by anterior translocation of the pulmonary artery using the Lecompte maneuver. © The Author(s) 2015.
Stanton, Michael P; Penington, Elizabeth C; Hutson, John M
The authors report a case of a surviving infant with sirenomelia (Mermaid syndrome). The child is now 4 years of age. The authors believe that this is only the fourth reported case of an infant with sirenomelia surviving beyond the neonatal period and the first associated with absent bladder. The abnormal distal aorta shown in this case supports the theory that sirenomelia is an extreme form of caudal dysgenesis rather than occurring secondary to vascular steal.
Randall, Christopher P; Mariner, Katherine R; Chopra, Ian; O'Neill, Alex J
Antistaphylococcal agents commonly lack activity against Gram-negative bacteria like Escherichia coli owing to the permeability barrier presented by the outer membrane and/or the action of efflux transporters. When these intrinsic resistance mechanisms are artificially compromised, such agents almost invariably demonstrate antibacterial activity against Gram negatives. Here we show that this is not the case for the antibiotic daptomycin, whose target appears to be absent from E. coli and other Gram-negative pathogens.
Tenisch, Estelle; Raboisson, Marie-Josée; Rypens, Françoise; Déry, Julie; Grignon, Andrée; Lapierre, Chantale
Tetralogy of Fallot with absent pulmonary valve syndrome is a rare form of tetralogy of Fallot with dilatation of large pulmonary arteries. Prognosis is related to the severity of the cardiac malformation and to bronchial tree compression by dilated pulmonary arteries. This study analyses the prenatal echographic lung appearance in fetuses with tetralogy of Fallot with absent pulmonary valve and discusses its significance. We carried out a retrospective review of fetal and postnatal files of nine fetuses diagnosed with tetralogy of Fallot with absent pulmonary valve syndrome in our institution. Correlations of prenatal ultrasound and cardiac imaging findings were obtained with outcome. Abnormal heterogeneous fetal lung echogenicity was detected in eight cases out of nine, always associated with significant lobar arterial dilatation. This aspect was well correlated with postnatal imaging and outcome in the four neonatal cases. The only fetus with normal lung echogenicity also had lower degree of pulmonary artery dilatation in the series. This study demonstrates that a heterogeneous ultrasound appearance of the fetal lungs can be detected in utero in the most severe cases. This aspect suggests an already significant compression of the fetal bronchial tree by the dilated arteries that may have prognostic implications.
Sunil Abhishek B
Full Text Available Isolated Unilateral Absent Pulmonary Artery (UAPA is a rare congenital anomaly. It is usually associated with congenital heart defects. A 45 year old male patient presented with complaints of fever with cough and expectoration for 15 days and retrosternal chest discomfort for the previous 2 days. ECG showed diffuse ST segment depression with T wave inversion in the inferior and lateral leads. Coronary Angiogram done through the right femoral approach revealed diffusely diseased Left Anterior Descending (LAD artery that was totally cut off at the mid segment. The Left Circumflex (LCx artery was providing blood supply to the right middle and lower lung areas. There was another collateral arising from the Left Subclavian Artery supplying the right middle and lower lung areas. The left pulmonary artery was normal, but branches supplying the middle and lower lobes of the right lung were absent and the upper lobe branch had pulmonary stenosis. UAPA is a rare clinical entity; collaterals from coronaries are extremely rare in this condition and till now there has not been any case report of unilateral absent branch pulmonary artery with peripheral stenosis of other branches, on the affected side and associated coronary artery disease.
Full Text Available Abstract Background Vestibular reflexes coordinate movements or sensory input with changes in body or head position. Vestibular-evoked responses that involve the extraocular muscles include the vestibulo-ocular reflex (VOR, a compensatory eye movement to stabilize retinal images. Although an angular VOR attributable to semicircular canal stimulation was reported to be absent in free-swimming zebrafish larvae, recent studies reveal that vestibular-induced eye movements can be evoked in zebrafish larvae by both static tilts and dynamic rotations that tilt the head with respect to gravity. Results We have determined herein the basis of sensitivity of the larval eye movements with respect to vestibular stimulus, developmental stage, and sensory receptors of the inner ear. For our experiments, video recordings of larvae rotated sinusoidally at 0.25 Hz were analyzed to quantitate eye movements under infrared illumination. We observed a robust response that appeared as early as 72 hours post fertilization (hpf, which increased in amplitude over time. Unlike rotation about an earth horizontal axis, rotation about an earth vertical axis at 0.25 Hz did not evoke eye movements. Moreover, vestibular-induced responses were absent in mutant cdh23 larvae and larvae lacking anterior otoliths. Conclusions Our results provide evidence for a functional vestibulo-oculomotor circuit in 72 hpf zebrafish larvae that relies upon sensory input from anterior/utricular otolith organs.
This invention relates to a method of performing eye gaze tracking of at least one eye of a user, by determining the position of the center of the eye, said method comprising the steps of: detecting the position of at least three reflections on said eye, transforming said positions to spanning...... a normalized coordinate system spanning a frame of reference, wherein said transformation is performed based on a bilinear transformation or a non linear transformation e.g. a möbius transformation or a homographic transformation, detecting the position of said center of the eye relative to the position...... of said reflections and transforming this position to said normalized coordinate system, tracking the eye gaze by tracking the movement of said eye in said normalized coordinate system. Thereby calibration of a camera, such as knowledge of the exact position and zoom level of the camera, is avoided...
Comeal transplantation is the only method of combating the blindness due to corneal opacity caused by infections, malnutrition, trauma and hereditary diseases. Comeal blindness is more prevalent in the developing countries. The availability of the donor cornea, trained ophthalmic surgeons and microsurgery facilities are the key factors in restoring vision in-patients with comeal blindness. The eye bank organization is somewhat similar to that of blood bank. The eye bank should be located in a hospital or a medical centre in which a laboratory may be established for the evaluation and storage of donor tissue. The medical director (Ophthalmologist), technician, secretary and public relation officer are the persons who play an important role in the successful organization of eye bank. The function of the eye bank are procurement, assessment, processing, distribution of donor eyes/corneas, training of technicians/doctors, and conducting research related to storage of donor tissue and corneal transplantation. The necessary infrastructure required for the organization of an eye bank include separate accommodation area for the personnel and the laboratory, telephone, computer, refrigerator, laminar air flow hood. Slitlamp, specular microscope, storage media and equipment, instrument for enucleation of donor eyes, and a motor vehicle. The details of responsibilities of the staff of eye bank, source of donor eyes, suitability of donor material, procurement of the donor cornea, tissue assessment, storage and preservation, distribution of donor tissue, and limitation of eye bank will be discussed at the time of presentation
Hornof, Anthony J.; Sato, Linda
Though musical performers routinely use eye movements to communicate with each other during musical performances, very few performers or composers have used eye tracking devices to direct musical compositions and performances. EyeMusic is a system that uses eye movements as an input to electronic music compositions. The eye movements can directly control the music, or the music can respond to the eyes moving around a visual scene. EyeMusic is implemented so that any composer using established...
Watt, Andrew J.B.; Halliday, Tonya; Raby, Nigel
AIM: To assess the accuracy of the absent bow tie sign in diagnosing bucket handle meniscal tears (BHT) of the knee menisci. MATERIALS AND METHODS: During a 3-year period, we correlated the MRI and arthroscopic findings and the presence of the various signs. One hundred and seven knees were reviewed: 74 where either MRI or arthroscopy had identified a BHT and 33 which were either normal (31), or a simple tear was identified (2). All cases were reviewed by a single radiologist with a musculoskeletal interest blinded to the original results. Each was assessed for the presence of (1) a central meniscal fragment, (2) the double posterior cruciate ligament (PCL) sign, (3) the bow tie sign and (4) the contribution of a 3D-volume sequence. RESULTS: Optimal results were obtained using standard sequences and a 3D-volume sequence, giving a sensitivity of 74% and positive predictive value of 89%. The bow tie sign gave a sensitivity of 71% and positive predictive value of 76%, significantly less than previous reports. The 18 BHTs diagnosed by arthroscopy but missed by MRI showed other abnormal findings at MRI and were not reported as normal. CONCLUSION: We were not able to reproduce the previously reported high sensitivity and specificity of the absent bow tie sign. Despite optimization of all factors, the accurate diagnosis of a bucket handle tear remains difficult, and is most reliably made by identifying a central meniscal fragment, rather than relying on secondary signs such as the absent bow tie sign. Watt, A.J.B. (2000)
Zhong, Yu-Min; Sun, Ai-Min; Wang, Qian; Zhu, Ming; Qiu, Hai-Sheng [Shanghai Children' s Medical Center and Shanghai Jiao Tong University Medical School, Department of Radiology, Shanghai (China); Jaffe, Richard B. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Liu, Jin-Fen [Shanghai Children' s Medical Center, Department of Cardiothoracic Surgery, Shanghai (China); Gao, Wei [Shanghai Children' s Medical Center and Shanghai Jiao Tong University Medical School, Department of Cardiology, Shanghai (China); Berdon, Walter E. [Children' s Hospital of New York, Department of Radiology, New York, NY (United States)
Absent pulmonary valve is a rare cardiovascular anomaly that can result in profound tracheobronchial compression. To demonstrate the advantage of multi-slice CT in diagnosing tracheobronchial compression, its severity as related to the adjacent dilated pulmonary arteries, and associated lung and cardiac lesions. We included children with absent pulmonary valve who were reviewed by multi-slice CT during a 17-year period. The number and locations of stenoses and lung lesions were noted and the severity of stenosis was categorized. The diameter of the pulmonary artery was measured and associated cardiac defects were demonstrated. Thirty-one children (14 girls and 17 boys) were included. Of these, 29 had ventricular septal defect and 2 had an intact ventricular septum. Twenty-nine children (94%) had tracheobronchial compression, judged to be mild in nine children (31%), moderate in 10 (34%) and severe in 10 (34%). The different locations of the stenosis (carina, main bronchi, lobar and segmental bronchi) were observed. And the number and location of lung lesions demonstrated that the right middle and left upper and lower lobes were often affected. The diameter of the pulmonary artery in these children was well above normal published values, and Spearman rank correlation analysis showed a correlation between the size of the pulmonary artery and the severity of the tracheobronchial stenosis. Nineteen children (61%) underwent surgery and 4 of these children had a multi-slice CT post-operative follow-up study. Absent pulmonary valve can cause significant morbidity and mortality in children. Multi-slice CT can accurately depict areas of tracheobronchial compression, associated lung lesions and cardiac defects, helping to direct the surgeon. (orig.)
Baseler, Heidi A.; Gouws, Andre; Haak, Koen V.; Racey, Christopher; Crossland, Michael D.; Tufail, Adnan; Rubin, Gary S.; Cornelissen, Frans W.; Morland, Antony B.
The occipital lobe contains retinotopic representations of the visual field. The representation of the central retina in early visual areas (V1-3) is found at the occipital pole. When the central retina is lesioned in both eyes by macular degeneration, this region of visual cortex at the occipital
Full Text Available Absent pulmonary valve syndrome (APVS is a rare congenital heart disease. Tetralogy of Fallot (TOF with APVS is a rare variation of TOF. These patients are commonly cyanotic at birth. Respiratory complaints predominate due to airway compression by dilated pulmonary arteries. Commonest age of presentation is infancy with anecdotal adult case-reports. Surgical treatment requires establishing unobstructed competent right ventricular outflow tract (RVOT often with monocusp or conduits. We present a novel technique of rendering RVOT competent by implanting a tilting disc mechanical prosthesis in a rare adult TOF with APVS.
Taragin, Benjamin H.; Berdon, Walter E.; Prinz, B.
Absent pulmonary valve syndrome (APVS) is a rare cardiac malformation with massive pulmonary insufficiency that presents with short-term and long-term respiratory problems secondary to severe bronchial compression from enlarged central and hilar pulmonary arteries. Association with chromosome 22.Q11 deletions and DiGeorge syndrome is common. This historical review illustrates the airway disease with emphasis on assessment of the bronchial compression in patients with persistent respiratory difficulties post-valvular repair. Cases that had MRI for cardiac assessment are used to illustrate the pattern of airway disease. (orig.)
Shillingsburg, M Alice; Bowen, Crystal N; Valentino, Amber L
The present study replicates and extends previous research on teaching "How?" mands for information to children with autism. The experimental preparation involved mand training in the context of completing preferred activities and included training and testing under conditions when the establishing operation (EO) was present and absent. Results show that two children with autism acquired mands for information using How? only in situations where information was valuable (i.e., the EO was present); they then consistently made use of the information provided in activity completion. Generalization to novel, untaught situations was assessed.
© 2014 Taylor & Francis. In contemporary Sino-French cinema, father characters who are dead, long lost or geographically distant leave gaping holes in the lives of the offspring left behind. The absent fathers in Sino-French films by Taiwanese auteurs Cheng Yu-chieh, Hou Hsiao-hsien and Tsai Ming-liang serve as metaphors for French auteurs. French New Wave films constitute the majority of the intertexts; however, early 1950s French cinema and even late nineteenth-century painting reflect th...
Favre, Bertrand; Plantard, Laure; Aeschbach, Lorène
and MDM skin. SLURP1 was found to be a marker of late differentiation, predominantly expressed in the granular layer of skin, notably the acrosyringium. Moreover, SLURP1 was also identified in several biological fluids such as sweat, saliva, tears, and urine from normal volunteers. In palmoplantar...... sections from MDM patients, as well as in their sweat, mutant SLURP1, including the new variant R71H-SLURP1, was either absent or barely detectable. Transfected human embryonic kidney 293T cells expressed the MDM mutant SLURP1 containing the single amino-acid substitution G86R but did not tolerate the MDM...
Haraldsson, H.M.; Ettinger, U.; Magnusdottir, B.B.
Neuregulin-1 (NRG-1) is a putative susceptibility gene for schizophrenia but the neurocognitive processes that may involve NRG-1 in schizophrenia are unknown. Deficits in antisaccade (AS) and smooth pursuit eye movements (SPEM) are promising endophenotypes, which may be associated with brain...... findings of impaired AS and SPEM performance in schizophrenia patients (all P eye movement variables...
Takusagawa, Mari; Tamotsu, Satoshi; Sakai, Atsushi
The core histone proteins (H2A, H2B, H3 and H4) are nuclear-localised proteins that play a central role in the formation of nucleosome structure. They have long been considered to be absent from extra-nuclear, DNA-containing organelles; that is plastids and mitochondria. Recently, however, the targeting of core histone H3 to mitochondria, and the presence of nucleosome-like structures in mitochondrial nucleoids, were proposed in cauliflower and tobacco respectively. Thus, we examined whether histone H3 was present in plant organelles and participated in the organisation of nucleoid structure, using highly purified organelles and organelle nucleoids isolated from BY-2 cultured tobacco cells. Immunofluorescence microscopic observations and Western blotting analyses demonstrated that histone H3 was absent from organelles and organelle nucleoids, consistent with the historical hypothesis. Thus, the organisation of organelle nucleoids, including putative nucleosome-like repetitive structures, should be constructed and maintained without participation of histone H3. © 2013 International Federation for Cell Biology.
Witnauer, James E; Miller, Ralph R
When two cues are reinforced together (in compound), most associative models assume that animals learn an associative network that includes direct cue-outcome associations and a within-compound association. All models of associative learning subscribe to the importance of cue-outcome associations, but most models assume that within-compound associations are irrelevant to each cue's subsequent behavioral control. In the present article, we present an extension of Van Hamme and Wasserman's (Learning and Motivation 25:127-151, 1994) model of retrospective revaluation based on learning about absent cues that are retrieved through within-compound associations. The model was compared with a model lacking retrieval through within-compound associations. Simulations showed that within-compound associations are necessary for the model to explain higher-order retrospective revaluation and the observed greater retrospective revaluation after partial reinforcement than after continuous reinforcement alone. These simulations suggest that the associability of an absent stimulus is determined by the extent to which the stimulus is activated through the within-compound association.
Freud's interest in the impact of death on the living goes back further than Mourning and Melancholia (1917e, ). In Totem and Taboo (1912-13) Freud noted the ambivalence of the emotions we experience in relation to the dead. In this paper, I focus on Mourning and Melancholia as a landmark in the understanding of both the normal and psychopathological aspects of mourning and depressive processes in human beings. Mourning and Melancholia bridges Freud's first and second topographic theories of the psychic apparatus and constitutes for many authors the foundation of his theory of internal object relations. With this psychoanalytic understanding of mourning as a framework, I discuss 'special mourning processes,' such as the those confronted by psychoanalysts in Argentina when treating the relatives of thousands of people who were 'disappeared' by the military dictatorship in the 1970s; they are 'special' in the sense that the external reality [which] constitutes the starting point of the psychic mourning process, as described by Freud, is absent. I argue that the 'absent-presence' of the body as an enigmatic message initiates a special mourning process that bears certain characteristics of, and is isomorphic to, Laplanche's seduction theory. Copyright © 2014 Institute of Psychoanalysis.
Andersen, Thomas Barnebeck; Dalgaard, Carl-Johan Lars; Selaya, Pablo
This research advances the hypothesis that cross-country variation in the historical incidence of eye disease has influenced the current global distribution of per capita income. The theory is that pervasive eye disease diminished the incentive to accumulate skills, thereby delaying the fertility...... transition and the take-off to sustained economic growth. In order to estimate the influence from eye disease incidence empirically, we draw on an important fact from the field of epidemiology: Exposure to solar ultraviolet B radiation (UVB-R) is an underlying determinant of several forms of eye disease...
Stern, Michael E; Pflugfelder, Stephen C
Dry eye is a condition of altered tear composition that results from a diseased or dysfunctional lacrimal functional unit. Evidence suggests that inflammation causes structural alterations and/or functional paralysis of the tear-secreting glands. Changes in tear composition resulting from lacrimal dysfunction, increased evaporation and/or poor clearance have pro-inflammatory effects on the ocular surface. This inflammation is responsible in part for the irritation symptoms, ocular surface epithelial disease, and altered corneal epithelial barrier function in dry eye. Anti-inflammatory therapies for dry eye target one or more of the inflammatory mediators/pathways that have been identified in dry eye.
... Assisted In Situ Keratomileusis; Laser vision correction; Nearsightedness - Lasik; Myopia - Lasik ... cornea (curvature) and the length of the eye. LASIK uses an excimer laser (an ultraviolet laser) to ...
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In Canada 30,000 people are registered as blind; in one third of these, blindness might have been avoided. Prevention is the key to reducing the number of eye injuries and blind eyes. The role of the family physician in early identification of treatable conditions and in the education of patients is discussed, but responsibility for prevention belongs to all physicians. The success of prevention is seen in the great reduction in eye injuries in industry and sports since eye protectors have be...
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Zhou, Feng C; Zhao, Qianqian; Liu, Yunlong; Goodlett, Charles R; Liang, Tiebing; McClintick, Jeanette N; Edenberg, Howard J; Li, Lang
We have previously demonstrated that alcohol exposure at early neurulation induces growth retardation, neural tube abnormalities, and alteration of DNA methylation. To explore the global gene expression changes which may underline these developmental defects, microarray analyses were performed in a whole embryo mouse culture model that allows control over alcohol and embryonic variables. Alcohol caused teratogenesis in brain, heart, forelimb, and optic vesicle; a subset of the embryos also showed cranial neural tube defects. In microarray analysis (accession number GSM9545), adopting hypothesis-driven Gene Set Enrichment Analysis (GSEA) informatics and intersection analysis of two independent experiments, we found that there was a collective reduction in expression of neural specification genes (neurogenin, Sox5, Bhlhe22), neural growth factor genes [Igf1, Efemp1, Klf10 (Tieg), and Edil3], and alteration of genes involved in cell growth, apoptosis, histone variants, eye and heart development. There was also a reduction of retinol binding protein 1 (Rbp1), and de novo expression of aldehyde dehydrogenase 1B1 (Aldh1B1). Remarkably, four key hematopoiesis genes (glycophorin A, adducin 2, beta-2 microglobulin, and ceruloplasmin) were absent after alcohol treatment, and histone variant genes were reduced. The down-regulation of the neurospecification and the neurotrophic genes were further confirmed by quantitative RT-PCR. Furthermore, the gene expression profile demonstrated distinct subgroups which corresponded with two distinct alcohol-related neural tube phenotypes: an open (ALC-NTO) and a closed neural tube (ALC-NTC). Further, the epidermal growth factor signaling pathway and histone variants were specifically altered in ALC-NTO, and a greater number of neurotrophic/growth factor genes were down-regulated in the ALC-NTO than in the ALC-NTC embryos. This study revealed a set of genes vulnerable to alcohol exposure and genes that were associated with neural tube
Josine van der Schoot
Full Text Available Purpose. To investigate transient focal microcystic retinoschisis in glaucomatous eyes in images obtained with several imaging techniques used in daily glaucoma care. Methods. Images of 117 glaucoma patients and 91 healthy subjects participating in a large prospective follow-up study into glaucoma imaging were reviewed. Participants were measured with spectral domain optical coherence tomography (SD-OCT, scanning laser polarimetry (SLP, scanning laser tomography (SLT, and standard automated perimetry (SAP. The presence of a focal retinoschisis in SD-OCT was observed and correlated to SLP, SLT, and SAP measurements, both cross-sectionally and longitudinally. Results. Seven out of 117 glaucoma patients showed a transient, localised, peripapillary, heterogeneous microcystic schisis of the retinal nerve fiber layer (RNFL and sometimes other retinal layers as well in SD-OCT. None of the healthy eyes showed this phenomenon nor did any of the other imaging techniques display it as detailed and consistently as did the SD-OCT. SAP showed a temporarily decreased focal retinal sensitivity during the retinoschisis and we found no signs of glaucomatous progression related to the retinoschisis. Conclusions. Transient microcystic retinoschisis appears to be associated with glaucomatous wedge defects in the RNFL. It was best observed with SD-OCT and it was absent in healthy eyes. We found no evidence that the retinoschisis predicted glaucomatous progression.
Engdahl, Lis; Bjerre, Vicky K; Christoffersen, Gert R J
Cognitive anticipation of a stimulus has been associated with an ERP called "stimulus preceding negativity" (SPN). A new auditory delay task without stimulus-related motor activity demonstrated a prefrontal SPN, present during attentive anticipation of sounds with closed eyes, but absent during d...
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Jiang, Ting; Potters, Jan; Funaki, Yukihiko
We hypothesize that if people are motivated by a particular social preference, then choosing in accordance with this preference will lead to an identifiable pattern of eye movements. We track eye movements while subjects make choices in simple three-person distribution experiments. We characterize
cause a watering eye; this condition is.called epiphora. Clearly, then, in investigating ... blockage is a common disease in the middle age-groups seen in hospital .... a dry eye, and this is so much worse than a wet one that the procedure is only ...
... this page: //medlineplus.gov/ency/article/000426.htm Dry eye syndrome To use the sharing features on this page, ... second-hand smoke exposure Cold or allergy medicines Dry eye can also be caused by: Heat or ... Symptoms may include: Blurred vision Burning, itching, ...
Full Text Available ... is also when your eyes do not make the right type of tears or tear film . How do tears work? When you blink, a film of tears spreads over the eye. This keeps the eye’s surface smooth and ...
Colicchia, Giuseppe; Wiesner, Hartmut; Zollman, Dean
Photorefraction is a method to easily estimate the refractive state of the eye. The principle of photorefraction involves projecting light into the eye during flash photography and then examining the paths of light that emerge from the pupil after scattering on the back portion of the interior of the eyeball (fundus). We will explain the optical…
... this page: //medlineplus.gov/ency/presentations/100206.htm Lasik eye surgery - series—Normal anatomy To use the ... A.M. Editorial team. Related MedlinePlus Health Topics Laser Eye Surgery A.D.A.M., Inc. is accredited by ...
Full Text Available ... luh) is the small, sensitive area of the retina needed for central vision. It contains the fovea. Lens is the clear part of the eye behind the iris that helps to focus light on the retina. It allows the eye to focus on both ...
... at the front of your eye — to improve vision. Normally, images are clearly focused on the retina in the back of your eye because the ... sharply, light rays focus in front of the retina and blur distant vision. You can see objects that are close fairly ...
Full Text Available ... NIH), the National Eye Institute’s mission is to “conduct and support research, training, health information dissemination, and other programs with respect to blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight, and ...
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Full Text Available ... also when your eyes do not make the right type of tears or tear film . How do tears work? When you blink, a film of tears spreads over the eye. This keeps the eye’s surface smooth and clear. The tear film is important for good vision. The tear film is made of three ...
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... Patient Stories Español Eye Health / Tips & Prevention Sections Smoking and Eye Disease Leer en Español: El cigarrillo ... By: Brenda Pagan-Duran MD Apr. 27, 2017 Smoking contributes to a number of major health problems, ...
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Klokmose, Clemens Nylandsted; Kristensen, Janus Bager; Bagge, Rolf
implemented primarily in shaders on the GPU. The techniques are realized in the BullsEye computer vision software. We demonstrate experimentally that BullsEye provides sub-pixel accuracy down to a tenth of a pixel, which is a significant improvement compared to the commonly used reacTIVision software....
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Full Text Available ... bloodshot when I wake up? Jun 26, 2016 Why are my eyes dry after LASIK? Jun 19, 2016 Can I be tested whether I close my eyes when I sleep? Feb 10, 2016 Can light sensitivity from Parkinson’s ...
Chahory , Sabine; Torriglia , Alicia
Apoptosis is a normal component of the development and health of multicellular organisms. Cells die during apoptosis in a controlled, regulated fashion. This form of cell death is very important in eye development as well as in eye pathology. We review in this chapter our current knowledge in this topic.
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... Early Breast Cancer to Avoid Chemo Could a Blood Test Spot Lung Cancer Early? Experimental Drug Shows 'Modest' Benefit ... often done when bulging affects only one eye. Blood tests to measure how well the thyroid is working are done when ... When bulging leads to severe dry eyes, lubrication with artificial tears is needed to ...
Drogalis-Kim, Diana E; Reemtsen, Brian L; Reardon, Leigh Christopher
Absent pulmonary valve is a rare and severe variant seen in only 3% to 6% of patients with tetralogy of Fallot. Fetuses with this combined condition who survive through birth typically need intervention in infancy or early childhood because of respiratory distress, heart failure, or failure to thrive. We describe the unusual case of a mildly symptomatic 16-year-old boy with these conditions who underwent successful primary repair. Our search of the medical literature yielded fewer than 5 cases of tetralogy of Fallot with absent pulmonary valve (or variants with an absent left pulmonary artery) and survival without repair into later adolescence or adulthood.
Schlecht, Anja; Leimbeck, Sarah V; Tamm, Ernst R; Braunger, Barbara M
Embryonic lethality in mice with targeted gene deletion is a major issue that can be circumvented by using Cre-loxP-based animal models. Various inducible Cre systems are available, e.g. such that are activated following tamoxifen treatment, and allow deletion of a specific target gene at any desired time point during the life span of the animal. In this study, we describe the efficiency of topical tamoxifen administration by eye drops using a Cre- reporter mouse strain (R26R). We report that tamoxifen-responsive CAGGCre-ER (TM) mice show a robust Cre- mediated recombination throughout the entire eye.
Susana Gordon Chaves
Full Text Available A 41-year-old man was admitted to an intensive care unit following respiratory arrest. One day prior to admission, he had complaints of nausea and pain involving lower limbs. On the night of admission he developed diplopia, dysphagia, and rapidly progressive quadriparesis. He developed respiratory failure requiring mechanical lung ventilation 24 hours later. On the fifth day of hospital stay the patient became comatose with absent brainstem reflexes and appeared to be brain dead. The cerebrospinal fluid showed albuminocytological dissociation. The electroencephalogram revealed an alpha rhythmical activity. The electrophysiological evaluation revealed an inexcitability of all nerves. Guillain-Barré syndrome was suspected. With supportive treatment the patient had a remarkable recovery and now is able to independently conduct his daily activities.
Sondheimer, H.M.; Oliphant, M.; Schneider, B.; Kavey, R.E.W.; Blackman, M.S.; Parker, F.B. Jr.
To expand the search for central pulmonary arteries in six patients with absence of cardiac-pulmonary continuity, computerized axial tomography (CAT) of the chest was performed. The CAT scans were compared with previous arteriograms and pulmonary vein wedge angiograms. Three patients with type IV truncus arteriosus were studied, and none had a central, right or left pulmonary artery on CAT scan. However, two patients with tetralogy of Fallot with pulmonary atresia and a patent ductus arteriosus to the right lung demonstrated the presence of a left pulmonary artery. In addition, one child with truncus arteriosus with ''absent'' left pulmonary artery demonstrated a left pulmonary artery on the CAT scan. The CAT scan may therefore enhance our ability to search for disconnected pulmonary arteries in children with complex cyanotic congenital heart disease
Full Text Available Malignant peripheral nerve sheath tumors (MPNSTs are nonrhabdomyosarcoma soft tissue sarcomas with rare occurrence in children specially in the retroperitoneum. We describe a young child who presented with an abdominal mass. Both ultrasound and computed tomography revealed a large right-sided abdominal mass in the anatomic place of right kidney, while no kidney or ureter was observed at that side. He underwent surgical resection of the tumor with a primary impression of Wilms tumor. To the authors’ knowledge, this is the first case of retroperitoneal malignant peripheral nerve sheath tumor and absent kidney. This case suggests the very rare probability of association of MPNSTs in children with genitourinary tract anomalies such as renal agenesis.
Transvaginal ultrasonography has increased our appreciation of the physiological changes in the ovary and endometrium that occur during the normal menstrual cycle. It has become a primary investigative tool in women with irregular or absent periods. Its usefulness in cases of primary amenorrhoea to assess anatomy is also undisputed although it may have limitations in terms of its specificity. However, the interpretation of ultrasound images in women with irregular menses or secondary amenorrhoea is not entirely straightforward. This is particularly true in the diagnosis of polycystic ovary syndrome, a condition of uncertain aetiology, which may present with oligoamenorrhoea. This chapter aims to discuss the benefits and limitations of ultrasound while taking into account the broad overlap between normal and abnormal physiology, some of which has still to be elucidated.
Full Text Available The basal ganglia, which have been shown to be a significant multisensory hub, are disordered in Parkinson’s disease (PD. This study was to investigate the audiovisual integration of peripheral stimuli in PD patients with/without sleep disturbances. Thirty-six age-matched normal controls (NC and 30 PD patients were recruited for an auditory/visual discrimination experiment. The mean response times for each participant were analyzed using repeated measures ANOVA and race model. The results showed that the response to all stimuli was significantly delayed for PD compared to NC (all p0.05. The current results showed that audiovisual multisensory integration for peripheral stimuli is absent in PD regardless of sleep disturbances and further suggested the abnormal audiovisual integration might be a potential early manifestation of PD.
Enblad, Malin; Birgisson, Helgi; Wanders, Alkwin; Sköldberg, Filip; Ghanipour, Lana; Graf, Wilhelm
The importance of absent neoplastic epithelium in specimens from cytoreductive surgery (CRS) is unknown. This study aimed to investigate the prevalence and prognostic value of histopathology without neoplastic epithelium in patients treated with CRS and hyperthermic intraperitoneal chemotherapy (HIPEC). Data were extracted from medical records and histopathology reports for patients treated with initial CRS and HIPEC at Uppsala University Hospital, Sweden, between 2004 and 2012. Patients with inoperable disease and patients undergoing palliative non-CRS surgery were excluded from the study. Patients lacking neoplastic epithelium in surgical specimens from CRS, with or without mucin, were classified as "neoplastic epithelium absent" (NEA), and patients with neoplastic epithelium were classified as "neoplastic epithelium present" (NEP). The study observed NEA in 78 of 353 patients (22 %). Mucin was found in 28 of the patients with NEA. For low-grade appendiceal mucinous neoplasms and adenomas, the 5-year overall survival rate was 100 % for NEA and 84 % for NEP, and the 5-year recurrence-free survival rate was 100 % for NEA and 59 % for NEP. For appendiceal/colorectal adenocarcinomas (including tumors of the small intestine), the 5-year overall survival rate was 61 % for NEA and 38 % for NEP, and the 5-year recurrence-free survival rate was 60 % for NEA and 14 % for NEP. Carcinoembryonic antigen level, peritoneal cancer index, and completeness of the cytoreduction score were lower in patients with NEA. A substantial proportion of patients undergoing CRS and HIPEC have NEA. These patients have a favorable prognosis and a decreased risk of recurrence. Differences in patient selection can affect the proportion of NEA and hence explain differences in survival rates between reported series.
Fontanella, F.; van Maarle, M. C.; Robles de Medina, P.; Oostra, R. J.; van Rijn, R. R.; Pajkrt, E.; Bilardo, C. M.
Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in
Mengel-From, Jonas; Børsting, Claus; Sanchez, Juan J.
Prediction of human eye colour by forensic genetic methods is of great value in certain crime investigations. Strong associations between blue/brown eye colour and the SNP loci rs1129038 and rs12913832 in the HERC2 gene were recently described. Weaker associations between eye colour and other...... value of typing either the HERC2 SNPs rs1129038 and/or rs12913832 that are in strong linkage disequilibrium was observed when eye colour was divided into two groups, (1) blue, grey and green (light) and (2) brown and hazel (dark). Sequence variations in rs11636232 and rs7170852 in HERC2, rs1800407...... genetic markers also exist. In 395 randomly selected Danes, we investigated the predictive values of various combinations of SNP alleles in the HERC2, OCA2 and MATP (SLC45A2) genes and compared the results to the eye colours as they were described by the individuals themselves. The highest predictive...
Thulasiraj D Ravilla
Full Text Available The effectiveness of eye care service delivery is often dependant on how the different stakeholders are aligned. These stakeholders range from the ministries of health who have the capacity to grant government subsidies for eye care, down to the primary healthcare workers who can be enrolled to screen for basic eye diseases. Advocacy is a tool that can help service providers draw the attention of key stakeholders to a particular area of concern. By enlisting the support, endorsement and participation of a wider circle of players, advocacy can help to improve the penetration and effectiveness of the services provided. There are several factors in the external environmental that influence the eye care services - such as the availability of trained manpower, supply of eye care consumables, government rules and regulations. There are several instances where successful advocacy has helped to create an enabling environment for eye care service delivery. Providing eye care services in developing countries requires the support - either for direct patient care or for support services such as producing trained manpower or for research and dissemination. Such support, in the form of financial or other resources, can be garnered through advocacy.
MacDonald, I M; Sasi, R
In the past 10 y, there have been considerable advances in the mapping, isolation, and characterization of many genes for important ocular conditions: retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, aniridia, retinoblastoma, and others. The candidate gene approach has now supplemented classical linkage studies and positional cloning in the investigation of ocular disorders. Developmentally expressed genes and animal models have provided insights as to the etiology of other disorders. With this knowledge at hand, genetic counselling for heritable eye diseases has been greatly improved.
Tran, Thuy Linh; Hamann, Steffen; Heegaard, Steffen
The major part of the eye consists of water . Continuous movement of water and ions between the ocular compartments and to the systemic circulation is pivotal for many physiological functions in the eye. The movement of water facilitates removal of the many metabolic products of corneal-, ciliary...... pressure. In the retina, water is transported into the vitreous body and across the retinal pigment epithelium to regulate the extracellular environment and the hydration of the retina. Aquaporins (AQPs ) take part in the water transport throughout the eye....
Almirantis, Yannis; Charalampopoulos, Panagiotis; Gao, Jia; Iliopoulos, Costas S; Mohamed, Manal; Pissis, Solon P; Polychronopoulos, Dimitris
The deviation of the observed frequency of a word w from its expected frequency in a given sequence x is used to determine whether or not the word is avoided . This concept is particularly useful in DNA linguistic analysis. The value of the deviation of w , denoted by [Formula: see text], effectively characterises the extent of a word by its edge contrast in the context in which it occurs. A word w of length [Formula: see text] is a [Formula: see text]-avoided word in x if [Formula: see text], for a given threshold [Formula: see text]. Notice that such a word may be completely absent from x . Hence, computing all such words naïvely can be a very time-consuming procedure, in particular for large k . In this article, we propose an [Formula: see text]-time and [Formula: see text]-space algorithm to compute all [Formula: see text]-avoided words of length k in a given sequence of length n over a fixed-sized alphabet. We also present a time-optimal [Formula: see text]-time algorithm to compute all [Formula: see text]-avoided words (of any length) in a sequence of length n over an integer alphabet of size [Formula: see text]. In addition, we provide a tight asymptotic upper bound for the number of [Formula: see text]-avoided words over an integer alphabet and the expected length of the longest one. We make available an implementation of our algorithm. Experimental results, using both real and synthetic data, show the efficiency and applicability of our implementation in biological sequence analysis. The systematic search for avoided words is particularly useful for biological sequence analysis. We present a linear-time and linear-space algorithm for the computation of avoided words of length k in a given sequence x . We suggest a modification to this algorithm so that it computes all avoided words of x , irrespective of their length, within the same time complexity. We also present combinatorial results with regards to avoided words and absent words.
Full Text Available ... programs with respect to blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight, and the special health problems and ... It sends electrical impulses through the optic nerve to the brain. Watch ...
... damage your eyes. The most common problem is diabetic retinopathy. It is a leading cause of blindness ... You need a healthy retina to see clearly. Diabetic retinopathy damages the tiny blood vessels inside your ...
Full Text Available ... of many different parts that work together to help you see. Check out the diagrams below to ... part of the eye behind the iris that helps to focus light on the retina. It allows ...
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Full Text Available ... about each part of your eye and what it does. Macula (MACK-yoo-luh) is the small, ... area of the retina needed for central vision. It contains the fovea. Lens is the clear part ...
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Full Text Available ... part of your eye and what it does. Macula (MACK-yoo-luh) is the small, sensitive area ... FOH-vee-uh) is the center of the macula, where your vision is sharpest. Optic nerve (OP- ...
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... by the Numbers — Infographic Five Steps to Safer Champagne Celebrations Eye Injuries at Home Leer en Español: ... that can splatter hot grease or oil. Opening champagne bottles during a celebration. Drilling or hammering screws ...
Full Text Available ... are made up of many different parts that work together to help you see. Check out the ... Learn how the different parts of your eye work together so you can see and make sense ...
Full Text Available ... Eye Care, Part 5 Mar 19, 2013 Follow The Academy Professionals: Education Guidelines News Multimedia Public & Patients: Contact Us About the Academy Jobs at the Academy Financial Relationships with Industry ...
Full Text Available ... History of the NEI NEI 50th Anniversary NEI Women Scientists Advisory Committee (WSAC) Board of Scientific Counselors ... Emily Y. Chew, M.D., Deputy Clinical Director Education Programs National Eye Health Education Program (NEHEP) Diabetic ...
Hudec, René; Michalová, S.
Roč. 47, č. 2 (2017), s. 94-99 ISSN 1335-1842. [INTEGRAL/BART Workshop /14./. Karlovy Vary, 03.04.2017-07.04.2017] Grant - others:GA ČR(CZ) GA13-33324S Institutional support: RVO:67985815 Keywords : fish eye optics * lobster eye optics * X-ray monitoring Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics OBOR OECD: Astronomy (including astrophysics,space science) Impact factor: 0.336, year: 2016
Otake, Tomofumi; Kuroiwa, Asato
The sex-determining gene SRY induces SOX9 expression in the testes of eutherian mammals via two pathways. SRY binds to testis-specific enhancer of Sox9 (TESCO) with SF1 to activate SOX9 transcription. SRY also up-regulates ER71 expression, and ER71 activates Sox9 transcription. After the initiation of testis differentiation, SOX9 enhances Amh expression by binding to its promoter with SF1. SOX8, SOX9 and SOX10, members of the SOXE gene family, also enhance the activities of the Amh promoter and TESCO. In this study, we investigated the regulation of these sexual differentiation genes in Tokudaia osimensis, which lacks a Y chromosome and the SRY gene. The activity of the AMH promoter was stimulated by SOXE genes and SF1. Mutant AMH promoters, with mutations in its SOX and SF1 binding sites, did not show significant activity by SOX9 and SF1. These results indicate that AMH expression was regulated by the binding of SOX9 and SF1. By contrast, SOXE genes could not enhance TESCO activity. These results indicate that TESCO enhancer activity was lost in this species. Furthermore, the activity of the SOX9 promoter was enhanced by ER71, indicating that ER71 may play an important role in the testis-specific expression of SOX9.
Poulain, P; Palaric, J C; Milon, J; Betremieux, P; Proudhon, J F; Signorelli, D; Grall, J Y; Giraud, J R
We retrospectively studied the outcome of pregnancy in 62 cases of absent end diastolic flow (AEDF) of umbilical artery Doppler flow velocity waveform. The history of pregnancies revealed that nearly all were of high risk. Many cases presented cerebral (65%) or uterine (55.5%) Doppler flow abnormalities, or both (38%). We noted 10 fetal deaths and decided 7 pregnancy terminations. Malformation and chromosomal defect rate was 16%. We noted 44 (71%) live-births, a very high rate of cesarean section (86%), prematurity (75%), small for gestational age (39%). Forty-five percent of the neonates had a 1-min Apgar score under 7, which dropped to 27% at 5 min. Neonate mortality rate was 6.9% and the total mortality rate was 34% (21/62). Morbidity was significant (7 cases with severe morbidity, 2 cases with chromosomal abnormality of poor prognosis). We compared different sub-groups with a view to looking for some prenatal factors which predict poor neonatal outcome in case of AEDF.
Araujo Junior, Cyrillo Rodrigues de; Carvalho, Tarcisio Nunes; Fraguas Filho, Sergio Roberto; Costa, Marlos Augusto Bitencourt; Jacob, Beatriz Mahmud; Machado, Marcio Martins; Teixeira, Kim-Ir-Sen Santos; Ximenes, Carlos Alberto
Persistent left superior vena cava absent right superior vena cava is a rare anomaly, with less than 150 cases reported in the literature. Congenitally persistent left superior vena cava is the most common variant of systemic venous return to the heart, resulting embryologically from failure of the left anterior cardinal vein to become obliterated. Its incidence varies from 0.3% in patients with otherwise normal heart to 4.3% in patients with congenital heart disease. In the majority of the patients, a right superior vena cava is present as well, but rarely the right anterior cardinal vein degenerates resulting in the absence of the normal right superior vena cava. The blood from the right side is carried by the persistent left superior vena cava to the right atrium through the coronary sinus. We report the case of a patient with a persistent left superior vena cava and absence of right superior vena cava identified by chance during a chest radiograph and computed tomography examination for investigation of chronic pulmonary obstructive disease. The patient had no congenital heart disease and the blood from the right side was drained by the persistent left superior vena cava into the right atrium through the coronary sinus. (author)
Full Text Available Endothelial cell migration is an essential aspect of tumor angiogenesis. Rac1 activity is needed for cell migration in vitro implying a requirement for this molecule in angiogenesis in vivo. However, a precise role for Rac1 in tumor angiogenesis has never been addressed. Here we show that depletion of endothelial Rac1 expression in adult mice, unexpectedly, has no effect on tumor growth or tumor angiogenesis. In addition, repression of Rac1 expression does not inhibit VEGF-mediated angiogenesis in vivo or ex vivo, nor does it affect chemotactic migratory responses to VEGF in 3-dimensions. In contrast, the requirement for Rac1 in tumor growth and angiogenesis becomes important when endothelial beta3-integrin levels are reduced or absent: the enhanced tumor growth, tumor angiogenesis and VEGF-mediated responses in beta3-null mice are all Rac1-dependent. These data indicate that in the presence of alphavbeta3-integrin Rac1 is not required for tumor angiogenesis.
Høeg, Tracy Beth; Ellervik, Christina; Buch, Helena
, Danish Rural Eye Study (DRES). All DRES participants received a comprehensive general health examination preceding their eye examination, including measurement of best-corrected visual acuity (BCVA) for each eye, bilateral 45° retinal fundus photographs and further ophthalmological examination where...... indicated. RESULTS: Overall, 3826 of 3843 participants (99.6%) had bilateral visual acuity measurements. The overall frequency of VI (BCVA eye) was 0.4% (95% confidence interval, CI, 0.2-0.7%; n = 15) among all DRES participants, 0.6% (95% CI 0.3-1.0%; n = 15) among participants...... >50 years and 3.7% (95% CI 2.1-6.5%; n = 11) in participants >80 years. The primary causes of VI in the better-seeing eye were age-related macular degeneration (AMD) in 46.7% (7/15) and cataract in 26.7% (4/15). A total of 43.3% (n = 115) of participants >80 years were pseudophakic in one or both eyes...
In this podcast, CDC's Adam Cohen, MD, a pediatrician and parent, discusses conjunctivitis (pink eye), a common eye condition in children and adults. He reviews pink eye causes and treatment, suggestions on when to call or visit a doctor, and practical tips to prevent pink eye from spreading.
NASA's "Eyes on…" suite of products continues to grow in capability and popularity. The "Eyes on the Earth", "Eyes on the Solar System" and "Eyes on Exoplanets" real-time, 3D interactive visualization products have proven themselves as highly effective demonstration and communication tools for NASA's Earth and Space Science missions. This presentation will give a quick look at the latest updates to the "Eyes" suite plus what is being done to make them tools for STEM Education.
Pan, Qing; Angelina, Adla; Marrone, Michael; Stark, Walter J; Akpek, Esen K
Background Theoretically, autologous serum eye drops (AS) offer a potential advantage over traditional therapies on the assumption that AS not only serve as a lacrimal substitute to provide lubrication but contain other biochemical components that allow them to mimic natural tears more closely. Application of AS has gained popularity as second-line therapy for patients with dry eye. Published studies on this subject indicate that autologous serum could be an effective treatment for dry eye. Objectives We conducted this review to evaluate the efficacy and safety of AS given alone or in combination with artificial tears as compared with artificial tears alone, saline, placebo, or no treatment for adults with dry eye. Search methods We searched CENTRAL (which contains the Cochrane Eyes and Vision Trials Register) (2016, Issue 5), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to July 2016), Embase (January 1980 to July 2016), Latin American and Caribbean Literature on Health Sciences (LILACS) (January 1982 to July 2016), the ISRCTN registry (www.isrctn.com/editAdvancedSearch), ClinicalTrials.gov (www.clinicaltrials.gov) and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We also searched the Science Citation Index Expanded database (December 2016) and reference lists of included studies. We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 5 July 2016. Selection criteria We included randomized controlled trials (RCTs) that compared AS versus artificial tears for treatment of adults with dry eye. Data collection and analysis Two review authors independently screened all titles and abstracts and assessed full-text reports of potentially eligible trials. Two review authors extracted data and assessed risk of bias and characteristics of included
Perez, Louise N; Lorena, Jamily; Costa, Carinne M; Araujo, Maysa S; Frota-Lima, Gabriela N; Matos-Rodrigues, Gabriel E; Martins, Rodrigo A P; Mattox, George M T; Schneider, Patricia N
The unique eyes of the four-eyed fish Anableps anableps have long intrigued biologists. Key features associated with the bulging eye of Anableps include the expanded frontal bone and the duplicated pupils and cornea. Furthermore, the Anableps retina expresses different photoreceptor genes in dorsal and ventral regions, potentially associated with distinct aerial and aquatic stimuli. To gain insight into the developmental basis of the Anableps unique eye, we examined neurocranium and eye ontogeny, as well as photoreceptor gene expression during larval stages. First, we described six larval stages during which duplication of eye structures occurs. Our osteological analysis of neurocranium ontogeny revealed another distinctive Anablepid feature: an ossified interorbital septum partially separating the orbital cavities. Furthermore, we identified the onset of differences in cell proliferation and cell layer density between dorsal and ventral regions of the retina. Finally, we show that differential photoreceptor gene expression in the retina initiates during development, suggesting that it is inherited and not environmentally determined. In sum, our results shed light on the ontogenetic steps leading to the highly derived Anableps eye. © 2017 The Author(s).
Pang, Xiaomei; Xu, Jing; Chang, Yi; Tang, Di; Zheng, Ya; Liu, Yanhua; Sun, Yiming
Major depressive disorder (MDD) is an important and highly prevalent mental disorder characterized by anhedonia and a lack of interest in everyday activities. Additionally, patients with MDD appear to have deficits in various cognitive abilities. Although a number of studies investigating the central auditory processing of low-level sound features in patients with MDD have demonstrated that this population exhibits impairments in automatic processing, the influence of emotional voice processing has yet to be addressed. To explore the automatic processing of emotional prosodies in patients with MDD, we analyzed the ability to detect automatic changes using event-related potentials (ERPs). This study included 18 patients with MDD and 22 age- and sex-matched healthy controls. Subjects were instructed to watch a silent movie but to ignore the afferent acoustic emotional prosodies presented to both ears while continuous electroencephalographic activity was synchronously recorded. Prosodies included meaningless syllables, such as "dada" spoken with happy, angry, sad, or neutral tones. The mean amplitudes of the ERPs elicited by emotional stimuli and the peak latency of the emotional differential waveforms were analyzed. The sad MMN was absent in patients with MDD, whereas the happy and angry MMN components were similar across groups. The abnormal sad emotional MMN component was not significantly correlated with the HRSD-17 and HAMA scores, respectively. The data indicate that patients with MDD are impaired in their ability to automatically process sad prosody, whereas their ability to process happy and angry prosodies remains normal. The dysfunctional sad emotion-related MMN in patients with MDD were not correlated with depression symptoms. The blunted MMN of sad prosodies could be considered a trait of MDD.
Wang, Yafei; Zhai, Shafei; Wang, Haijing; Jia, Qian; Jiang, Wenkai; Zhang, Xiao; Zhang, Ansheng; Liu, Jun; Ni, Longxing
In recent years, the inflammasome has been determined to play an important role in inflammatory diseases. However, the role of the inflammasome in pulpitis remains unclear. Absent in melanoma 2 (AIM2) is a type of inflammasome that recognizes cytosolic double stranded DNA and forms a caspase-1-activating inflammasome with apoptosis-associated speck-like protein containing a caspase activating recruiting domain. In this study, we determined whether AIM2 was expressed in pulp cells and defined the role of AIM2 in the initiation of inflammation within the dental pulp. In the in vivo study, the right maxillary molars from male adult Sprague-Dawley rats (250-350 g) were exposed to the pulp. In the in vitro study, the pulp cells isolated from the mandibular incisors of the Sprague-Dawley rats (2 weeks) were conventionally cultured. Immunofluorescence staining was used to determine the expression and distribution of AIM2 in the rat dental pulp tissues and cells in the presence or absence of inflammatory stimulation. Western blotting and real-time polymerase chain reaction were performed to determine whether there was a correlation between AIM2 expression levels and inflammation both in vivo and in vitro. In healthy dental pulp tissues and cells, AIM2 was only detected in the odontoblast layer. Stimulation significantly increased AIM2 expression in both the dental pulp tissues and cultured cells. The mRNA and protein levels of AIM2 were significantly up-regulated in response to inflammatory stimulation in a dose-dependent manner. Moreover, we also found that AIM2 expression correlated with interleukin-1 levels. These results reveal a direct relationship between the AIM2 inflammasome and pulpitis. Our study demonstrates that AIM2 is expressed in dental pulp tissues and mediates the inflammatory response during pulpitis. Therapeutic interventions aimed at reducing AIM2 expression may be beneficial in the treatment of pulpitis. Copyright © 2013 American Association of
Tay, Clifton Ming; Siew, Edwin Poh Yiew; Ng, Tze-Kiat; Vathsala, Anantharanam; Tiong, Ho Yee
Congenital atresia of the common and external iliac arteries is a rare vascular anomaly that may be associated with congenital renal or genitourinary malformations. In ESRD patients, its presence may pose potential problems during renal transplantation. We report a rare case of kidney transplantation in a patient with VACTERL syndrome who was found to have absent right common and external iliac arteries during pre-operative imaging. Vascular supply to the right lower limb is derived from an anomalous branch from the left internal iliac artery which takes on a convoluted course across the pelvis. Kidney transplantation was performed successfully with implantation performed on the left side. Isolated cases of congenital iliac artery atresia have been described in association with urological abnormalities but no clear association has yet been established. However, we feel that it may be useful to perform routine angiographic evaluation for ESRD patients with congenital genitourinary abnormalities being planned for kidney transplantation. While most cases of congenital iliac artery anomalies are symptomatic with claudication, some remain asymptomatic with normal physical examination findings. There is some evidence in literature suggesting the usefulness of routine pre-operative CT in a selective group of patients. Kidney transplantation in such cases is safe and we recommend routine pre-operative imaging of patients known to have congenital genitourniary abnormalities. The kidney should be implanted heterotopically to the contralateral side of the vascular anomaly and care must be taken to preserve vascular supply to the lower limbs. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.
Klaassen, Zachary; Shoja, Mohammadali M; Tubbs, R Shane; Loukas, Marios
Anatomical history over centuries includes description of a wide variety of malformations involving the lower limbs. This article offers an organized review of these diverse abnormalities, including new understanding of mechanisms through recent discoveries in genetics and molecular biology. In 19th century Europe, a number of unique anomalies were reported, as well as evidence of foot amputations occurring in ancient Peruvian culture. Embryologically, the limbs develop early, with the lower limb being recognizable for the first time at stage 13 of development. By stage 23, the toes are clearly defined and by birth, although the legs appear bowed, the tibia and fibula are straight. Removal of the apical ectodermal ridge results in cessation of limb development, conversely, a second apical ectodermal ridge results in duplication of distal structures. Supernumerary limbs have been documented to occur as part of a teratoma with unique morphology and accompanying blood supply. Additionally, many examples of polydactyly occur in the foot postulating that deletion of chromosome 22q11 is involved in postaxial polydactyly. Such deletions occur near the middle of the chromosome at a location designated q11.2 (i.e., on the long arm of one of the pair of chromosomes 22) and this syndrome is also referred to as DiGeorge syndrome, which has a prevalence estimated at 1:4,000. Absence of the lower limbs has also been noted, with hypoplasia of the fibula being the most common manifestation of congenital bone absences in the lower limb. In addition to fibular aplasia, cases of tibial aplasia have been reported. This article is important for surgeons attempting correctional repair of lower limb anomalies, as well as providing analysis of the historical, anatomical and clinical aspects of supernumerary and absent limbs and digits for the lower limb. Copyright © 2011 Wiley-Liss, Inc.
De Guchtenaere, A; Vande Walle, C; Van Sintjan, P; Raes, A; Donckerwolcke, R; Van Laecke, E; Hoebeke, P; Vande Walle, J
Monosymptomatic nocturnal enuresis is frequently associated with nocturnal polyuria and low urinary osmolality during the night. Initial studies found decreased vasopressin levels associated with low urinary osmolality overnight. Together with the documented desmopressin response, this was suggestive of a primary role for vasopressin in the pathogenesis of enuresis in the absence of bladder dysfunction. Recent studies no longer confirm this primary role of vasopressin. Other pathogenetic factors such as disordered renal sodium handling, hypercalciuria, increased prostaglandins and/or osmotic excretion might have a role. So far, little attention has been given to abnormalities in the circadian rhythm of glomerular filtration rate. We evaluated the circadian rhythm of glomerular filtration rate and diuresis in children with desmopressin resistant monosymptomatic nocturnal enuresis and nocturnal polyuria. We evaluated 15 children (9 boys) 9 to 14 years old with monosymptomatic nocturnal enuresis and nocturnal polyuria resistant to desmopressin treatment. The control group consisted of 25 children (12 boys) 9 to 16 years old with monosymptomatic nocturnal enuresis without nocturnal polyuria. Compared to the control population, children with nocturnal polyuria lost their circadian rhythm not only for diuresis and sodium excretion but also for glomerular filtration rate. Patients with monosymptomatic nocturnal enuresis and nocturnal polyuria lack a normal circadian rhythm for diuresis and sodium excretion, and the circadian rhythm of glomerular filtration rate is absent. This absence of circadian rhythm of glomerular filtration rate and/or sodium handling cannot be explained by a primary role of vasopressin, but rather by a disorder in circadian rhythm of renal glomerular and/or tubular functions.
Gehring, Walter J
Charles Darwin has proposed the theory that evolution of live organisms is based on random variation and natural selection. Jacques Monod in his classic book Chance and Necessity, published 40 years ago, presented his thesis "that the biosphere does not contain a predictable class of objects or events, but constitutes a particular occurrence, compatible indeed with the first principles, but not deducible from those principals and therefore, essentially unpredictable." Recent discoveries in eye evolution are in agreement with both of these theses. They confirm Darwin's assumption of a simple eye prototype and lend strong support for the notion of a monophyletic origin of the various eye types. Considering the complexity of the underlying gene regulatory networks the unpredictability is obvious. The evolution of the Hox gene cluster and the specification of the body plan starting from an evolutionary prototype segment is discussed. In the course of evolution, a series of similar prototypic segments gradually undergoes cephalization anteriorly and caudalization posteriorly through diversification of the Hox genes.
Bradley, Brenda J; Pedersen, Anja; Mundy, Nicholas I
Almost all mammals have brown or darkly-pigmented eyes (irises), but among primates, there are some prominent blue-eyed exceptions. The blue eyes of some humans and lemurs are a striking example of convergent evolution of a rare phenotype on distant branches of the primate tree. Recent work...... on humans indicates that blue eye color is associated with, and likely caused by, a single nucleotide polymorphism (rs12913832) in an intron of the gene HERC2, which likely regulates expression of the neighboring pigmentation gene OCA2. This raises the immediate question of whether blue eyes in lemurs might...... have a similar genetic basis. We addressed this by sequencing the homologous genetic region in the blue-eyed black lemur (Eulemur macaco flavifrons; N = 4) and the closely-related black lemur (Eulemur macaco macaco; N = 4), which has brown eyes. We then compared a 166-bp segment corresponding...
Adler, Scott A; Gallego, Pamela
Search asymmetry is characterized by the detection of a feature-present target amidst feature-absent distractors being efficient and unaffected by the number of distractors, whereas detection of a feature-absent target amidst feature-present distractors is typically inefficient and affected by the number of distractors. Although studies have attempted to investigate this phenomenon with infants (e.g., Adler, Inslicht, Rovee-Collier, & Gerhardstein in Infant Behavioral Development, 21, 253-272, 1998; Colombo, Mitchell, Coldren, & Atwater in Journal of Experimental Psychology: Learning, Memory and Cognition, 19, 98-109, 1990), due to methodological limitations, their findings have been unable to definitively establish the development of visual search mechanisms in infants. The present study assessed eye movements as a means to examine an asymmetry in responding to feature-present versus feature-absent targets in 3-month-olds, relative to adults. Saccade latencies to localize a target (or a distractor, as in the homogeneous conditions) were measured as infants and adults randomly viewed feature-present (R among Ps), feature-absent (P among Rs), and homogeneous (either all Rs or all Ps) arrays at set sizes of 1, 3, 5, and 8. Results indicated that neither infants' nor adults' saccade latencies to localize the target in the feature-present arrays were affected by increasing set sizes, suggesting that localization of the target was efficient. In contrast, saccade latencies to localize the target in the feature-absent arrays increased with increasing set sizes for both infants and adults, suggesting an inefficient localization. These findings indicate that infants exhibit an asymmetry consistent with that found with adults, providing support for functional bottom-up selective attention mechanisms in early infancy.
King and Eye explores the visual formation of kingship in Siam in its multifarious aspects. This dissertation identifies the leitmotifs in the dynamics between seeing the king and being seen by him, which burst forth in different eras. The visual sense has been a repository for the ontologization...... devices, most significantly the photographic and the cine cameras, but also encompassing other ocular apparatuses. The images produced through the contraptions were brought together under the royal eye at the apex, which in turn claimed its supremacy over space, time, and the vast and diverse population...
Høeg, Tracy B; Moldow, Birgitte; Ellervik, Christina
and older from a Danish rural municipality received a complete general health examination and an ophthalmological interview and examination. This study included a comprehensive ophthalmologic interview, measurement of best corrected visual acuity (BCVA) in each eye, Hirschberg's test for strabismus and two...... 45-degree retinal fundus photographs of each eye. A complete ophthalmologic examination was performed when indicated. RESULTS: The prevalence of monocular visual impairment (MVI) was 4.26% (95% CI, 3.66-4.95, n = 163). Amblyopia was the most common cause, accounting for 33%. The prevalence...
Schlingemann, R. O.; Hofman, P.; Anderson, L.; Troost, D.; van der Gaag, R.
The endothelium-specific antigen PAL-E is expressed in capillaries and veins throughout the body with the exception of the brain, where the antigen is absent from anatomical sites with a patent blood-brain barrier. In this study we determined vascular endothelial staining for PAL-E in the normal eye
behavior studies on his animals. Also unknown is how many nerve cells must regenerate so the eyes can see. ’’The brain is exceptionally good at taking...UCSD. Those might include ways to combine regenerative techniques with treat- ments for vision loss like retinal prostheses, gene therapy, or stem ...inability of retinal ganglion cells to regenerate. Whole eye transplantation (WET) gives the opportunity to provide viable retinal ganglion cells and the
Nieuwenhuijsen, K.; Verbeek, J.H.A.M.; Boer, A.G.E.M. de; Blonk, R.W.B.; Dijk, F.J.H. van
Aims: To study supervisory behaviour as a predictive factor for return to work of employees absent due to mental health problems; and to explore the association between conditional factors and supervisory behaviour. Methods: Eighty five supervisors of employees were interviewed by telephone.
Wilkinson, Matthew L. N.
This paper introduces the concept of the "absent curriculum" on the premise that the study of curriculum has been prone to privileging curricular presence to the exclusion of curricular absence. In order to address this imbalance and to articulate a theory of absence in the curriculum, the paper applies ideas derived from the philosophy…
Adriaanse, R.; Romijn, J. A.; Endert, E.; Wiersinga, W. M.
The nocturnal TSH surge was studied in controls, in 34 patients with hypothalamic/pituitary disease and in 21 patients with primary hypothyroidism. It was absent in 5/12 hypothyroid patients and in 5/22 euthyroid patients with hypothalamic/pituitary disease (42% vs 23%, NS). Central hypothyroidism
Ma, Zheng-lai; Wang, Guang; Cheng, Xin; Chuai, Manli; Kurihara, Hiroshi; Lee, Kenneth Ka Ho; Yang, Xuesong
Caffeine has been an integral component of our diet and medicines for centuries. It is now known that over consumption of caffeine has detrimental effects on our health, and also disrupts normal foetal development in pregnant mothers. In this study, we investigated the potential teratogenic effect of caffeine over-exposure on eye development in the early chick embryo. Firstly, we demonstrated that caffeine exposure caused chick embryos to develop asymmetrical microphthalmia and induced the orbital bone to develop abnormally. Secondly, caffeine exposure perturbed Pax6 expression in the retina of the developing eye. In addition, it perturbed the migration of HNK-1+ cranial neural crest cells. Pax6 is an important gene that regulates eye development, so altering the expression of this gene might be the cause for the abnormal eye development. Thirdly, we found that reactive oxygen species (ROS) production was significantly increased in eye tissues following caffeine treatment, and that the addition of anti-oxidant vitamin C could rescue the eyes from developing abnormally in the presence of caffeine. This suggests that excess ROS induced by caffeine is one of the mechanisms involved in the teratogenic alterations observed in the eye during embryogenesis. In sum, our experiments in the chick embryo demonstrated that caffeine is a potential teratogen. It causes asymmetrical microphthalmia to develop by increasing ROS production and perturbs Pax6 expression. PMID:24636305
Full Text Available ... programs with respect to blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight, and the special health problems and ... is the center of the macula, where your vision is sharpest. Optic nerve (OP-tic nurv) is the bundle of more than 1 ...
... cold helps keep down pain and swelling. If pain continues or your vision is blurry, get to a doctor right away. ! If you get hit in the eye with flying metal, wood, or material from a power tool (like a drill or wheel) , OR ! If ...
Hansen, Dan Witzner; Hansen, John Paulin
This paper presents a gaze typing system based on consumer hardware. Eye tracking based on consumer hardware is subject to several unknown factors. We propose methods using robust statistical principles to accommodate uncertainties in image data as well as in gaze estimates to improve accuracy. We...
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Full Text Available ... type of tears or tear film . How do tears work? When you blink, a film of tears spreads over the eye. This keeps the eye’s surface smooth and clear. The tear film is important for good vision. The tear ...
... Refractive Surgery Procedures What Is Photorefractive Keratectomy (PRK)? LASIK — Laser Eye Surgery Leer en Español: LASIK—Cirugía ocular con láser ... loss of close-up focusing power. How the LASIK procedure works LASIK is performed while the patient ...
Full Text Available ... make the right type of tears or tear film . How do tears work? When you blink, a film of tears spreads over the eye. This keeps the eye’s surface smooth and clear. The tear film is important for good vision. The tear film ...
Full Text Available ... Ask a Scientist Video Series Glossary The Visual System Your Eyes’ Natural Defenses Eye Health and Safety ... Employee Emergency Information NEI Intranet (Employees Only) *PDF files require the free Adobe® Reader® software for viewing. ...
One of the first lessons new drivers learn is to keep their eyes on the road. Unfortunately, cell phones and other electronic devices are causing many drivers to lose their focus, and sometimes their lives. In this podcast, Rebecca Naumann discusses the dangers of distracted driving.
Doel, van den Marieke; Eck, van Natasja; Korevaar, Gerbrand; Tummers, Anna; Weststeijn, Thijs
The 'learned eye' or oculus eruditus was a concept used by seventeenth-century writers on painting. It illustrated their view that the ideal artist was not only skilled in painting techniques, but also had knowledge of the history of art and an interest in poetry and literature.In this book,
... an eye disorder that slowly destroys sharp, central vision A tear in the retina A blockage of the small veins that carry ... Since parts of the retina are burned, you may develop: Mild loss ... vision If not treated, diabetic retinopathy can cause permanent ...
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... you're wearing? In the United States, the use of color additives is strictly regulated. A number of color ... to color additives that are not approved for use in the area of the eye. Avoid color additives that are not approved for use in ...
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Kierkels, J.J.M.; Riani, J.; Bergmans, J.W.M.; Boxtel, van G.J.M.
We present a new method to correct eye movement artifacts in electroencephalogram (EEG) data. By using an eye tracker, whose data cannot be corrupted by any electrophysiological signals, an accurate method for correction is developed. The eye-tracker data is used in a Kalman filter to estimate which
Grippo, A; Carrai, R; Fossi, S; Cossu, C; Mazzeschi, E; Peris, A; Bonizzoli, M; Ciapetti, M; Gensini, G F; Pinto, F; Amantini, A
Early prediction of neurological outcome for patients resuscitated from cardiac arrest (CA) is a challenging task. Therapeutic hypothermia (TH) has been shown to improve neurological outcome after CA. Two recent studies indicated that somatosensory evoked potentials (SEP) recorded during TH retains high prediction value for poor neurological outcome. It remains unclear whether TH can influence the recovery of bilaterally absent (BA) N20 after re-warming. The primary endpoint of the present study was to evaluate if patients with BA SEPs during TH can recover cortical responses after re-warming. The secondary endpoint was to evaluate whether BA SEPs recorded during TH retains its prediction value for poor neurological outcome as in normothermic patients. A single centre prospective cohort study including comatose adults resuscitated from in/out-of-hospital CA treated with TH. SEPs were recorded during TH (6-24 hours after CA) and after re-warming in those patients who remained comatose. Neurological outcome was assessed 6 months after CA using the Glasgow Outcome Scale. Sixty patients were included. In patients with preserved SEP, no significant differences were found between N20 mean amplitude during TH and after re-warming. During TH, 24 patients showed bilaterally absent N20 but none of these recovered cortical responses after re-warming. All patients with absent SEPs during TH did not recover consciousness. In a single centre cohort of comatose CA patients, our results showed that all patients with absent SEPs during early recording (6-24 hours) during TH showed bilaterally absent SEPs after re-warming. As a secondary result we confirmed previous data that BA SEPs during TH retains its prognostic value for poor neurological outcome, as in normothermic patients.
... as well as the sexually transmitted infection called gonorrhea. Women with untreated gonorrhea can pass the bacteria to her baby during ... conjunctivitis is less common than conjunctivitis caused by gonorrhea and chlamydia. Symptoms usually include red eye(s) and ...
In this podcast, CDC's Adam Cohen, MD, a pediatrician and parent, discusses conjunctivitis (pink eye), a common eye condition in children and adults. He reviews pink eye causes and treatment, suggestions on when to call or visit a doctor, and practical tips to prevent pink eye from spreading. Created: 10/12/2010 by National Center for Immunization and Respiratory Diseases (NCIRD). Date Released: 10/13/2010.
Galor, Anat; Moein, Hamid-Reza; Lee, Charity; Rodriguez, Adriana; Felix, Elizabeth R; Sarantopoulos, Konstantinos D; Levitt, Roy C
Dry eye is a common, multifactorial disease currently diagnosed by a combination of symptoms and signs. Its epidemiology and clinical presentation have many similarities with neuropathic pain outside the eye. This review highlights the similarities between dry eye and neuropathic pain, focusing on clinical features, somatosensory function, and underlying pathophysiology. Implications of these similarities on the diagnosis and treatment of dry eye are discussed. Published by Elsevier Inc.
Meulen, F.F. van der
The coordination between eye movements and speech was examined while speakers were naming objects. Earlier research has shown that eye movements reflect on the underlying visual attention. Also, eye movements were found to reflect upon not only the visual and conceptual processing of an object, but
In Thoreau's Walden, a lake is described as the landscape's most expressive feature and the earth's eye. Collectively, scientists are charged by society to assess, monitor, and remedy maladies of earth's eye in the same way optometrists maintain the health of the human eye. This ...
Hay, Kenneth M.; And Others
A law passed by a state legislature requires that students in industrial arts shops and science laboratories must wear eye protective devices. Explanatory material presents the text of the bill and guidelines for implementation, including--(1) types of eye hazards, (2) types of protective devices, (3) administrating eye safety equipment, (4)…
Thomas, Neil M; Bampouras, Theodoros M; Donovan, Tim; Dewhurst, Susan
Visual information is used for postural stabilization in humans. However, little is known about how eye movements prevalent in everyday life interact with the postural control system in older individuals. Therefore, the present study assessed the effects of stationary gaze fixations, smooth pursuits, and saccadic eye movements, with combinations of absent, fixed and oscillating large-field visual backgrounds to generate different forms of retinal flow, on postural control in healthy young and older females. Participants were presented with computer generated visual stimuli, whilst postural sway and gaze fixations were simultaneously assessed with a force platform and eye tracking equipment, respectively. The results showed that fixed backgrounds and stationary gaze fixations attenuated postural sway. In contrast, oscillating backgrounds and smooth pursuits increased postural sway. There were no differences regarding saccades. There were also no differences in postural sway or gaze errors between age groups in any visual condition. The stabilizing effect of the fixed visual stimuli show how retinal flow and extraocular factors guide postural adjustments. The destabilizing effect of oscillating visual backgrounds and smooth pursuits may be related to more challenging conditions for determining body shifts from retinal flow, and more complex extraocular signals, respectively. Because the older participants matched the young group's performance in all conditions, decreases of posture and gaze control during stance may not be a direct consequence of healthy aging. Further research examining extraocular and retinal mechanisms of balance control and the effects of eye movements, during locomotion, is needed to better inform fall prevention interventions.
... Involved News About Us Donate In This Section Dry Eyes and Glaucoma: Double Trouble email Send this article ... eye disease bothers the patient more. What Causes Dry Eye Syndrome? Dry eye can be caused by many ...
Congdon, N G; West, K P
The topic "nutrition and the eye" cannot adequately be covered in a single review article; indeed, dozens of books and hundreds of articles have been written on the subject. This review concentrates on three areas in which specific nutrients are known or theorized to have a major impact on vision and the visual system: vitamin A deficiency; antioxidants and their proposed role in the prevention of age-related cataract and macular degeneration; and nutritional optic neuropathies, including those of the recent Cuban epidemic. In addition, this article touches on nutritional treatments that have been suggested for several less common eye diseases and, finally, considers several less prevalent conditions in which deficiency of or excess exposure to a particular nutrient has been associated with ocular pathology.
Full Text Available Based on what you found during the eye examination, classify the injury as a non-mechanical injury (chemical or thermal injury, a non-globe injury (orbital or adnexal injury or as a mechanical globe injury. In the case of mechanical globe injuries, it is important to classify the injury according to the Birmingham Eye Trauma Terminology System (BETTS and write it down in the patient’s notes; this will help to ensure that everyone involved in caring for the patient will have a consistent understanding of the type of injury. The resulting uniformity of terminology also helps with research, making it possible to compare data and do audits of injuries – which is essential for prevention.
Glaveanu, Vlad Petre; Lahlou, Saadi
of an adapted Subjective Evidence-Based Ethnography (SEBE). This methodology combines (a) obtaining first person audio-visual recordings of creative action with a miniature video-camera worn at eye-level, (b) accessing the subjective experience of the participant through a confrontation interview based...... of creativity at both process and content levels. The benefits, limitations, and possible applications of the method are considered in the broader context of creativity studies....
Christoph Scheiner was born in 1573 or 1575. In 1595 he entered into the Order of the Jesuits; he died in 1650. In 1619 his book Oculus, dealing with the optics of the eye, appeared in Innsbruck. The invention of the telescope was of utmost importance for progress in astronomical and physical research. Scheiner himself built telescopes and discovered the sunspots. As a result, an unpleasant priority dispute with Galilei ensued. From 1624 onwards, Scheiner was in Rome, where his main work Rosa Ursina was published in 1630. A part of this book deals with the physiological optics of the eye as well. Some of his discoveries and experiments are taken from these two books: determination of the radius of curvature of the cornea, discovery of the nasal exit of the optic nerve, increase in the radius of curvature of the lens in case of accommodation, Scheiner's procedure (double images with ametropia), refractive indices of various parts of the eye, Scheiner's experiment. Without any doubt, Christoph Scheiner belongs to the foremost scientists of the first half of the 17th century.
Agurto, C.; Nemeth, S.; Zamora, G.; Vahtel, M.; Soliz, P.; Barriga, S.
In recent years, several research groups have developed automatic algorithms to detect diabetic retinopathy (DR) in individuals with diabetes (DM), using digital retinal images. Studies have indicated that diabetics have 1.5 times the annual risk of developing primary open angle glaucoma (POAG) as do people without DM. Moreover, DM patients have 1.8 times the risk for age-related macular degeneration (AMD). Although numerous investigators are developing automatic DR detection algorithms, there have been few successful efforts to create an automatic algorithm that can detect other ocular diseases, such as POAG and AMD. Consequently, our aim in the current study was to develop a comprehensive eye evaluation algorithm that not only detects DR in retinal images, but also automatically identifies glaucoma suspects and AMD by integrating other personal medical information with the retinal features. The proposed system is fully automatic and provides the likelihood of each of the three eye disease. The system was evaluated in two datasets of 104 and 88 diabetic cases. For each eye, we used two non-mydriatic digital color fundus photographs (macula and optic disc centered) and, when available, information about age, duration of diabetes, cataracts, hypertension, gender, and laboratory data. Our results show that the combination of multimodal features can increase the AUC by up to 5%, 7%, and 8% in the detection of AMD, DR, and glaucoma respectively. Marked improvement was achieved when laboratory results were combined with retinal image features.
Sun, Heather Y; Boe, Justin; Rubesova, Erika; Barth, Richard A; Tacy, Theresa A
In tetralogy of Fallot with absent pulmonary valve, pulmonary stenosis and regurgitation results in significant pulmonary artery dilatation. Branch pulmonary artery dilatation often compresses the tracheobronchial tree, causing fluid trapping in fetal life and air trapping and/or atelectasis after birth. Prenatal diagnosis predicts poor prognosis, which depends on the degree of respiratory insufficiency from airway compromise and lung parenchymal disease after birth. Fetal magnetic resonance imaging (MRI) has been useful in evaluating the effects of congenital lung lesions on lung development and indicating severity of pulmonary hypoplasia. This report is the first demonstrating the utility of fetal MRI in tetralogy of Fallot/absent pulmonary valve patients, which predicted postnatal pulmonary artery size and visualized airway compression and lung parenchymal lesions. The distribution of lobar fluid trapping on fetal MRI correlated with air trapping on postnatal computed tomography angiogram. © 2013 Wiley Periodicals, Inc.
Ananias K. Nyanjaya
Full Text Available This article revealed the degree of trauma experienced by male adolescents when their fathers are absent. The cost of this absence could not be balanced with the material benefits the children have enjoyed, for the benefits have been outweighed by the trauma that children experience in the absence of their fathers. The emotions and tears expressed during the research journey have revealed that material support cannot compensate for the love and presence children expect from their fathers. The deep hurt instilled in their hearts by the periods of absence angered them and led to traumatic experiences. The protracted period of living with only one primary caregiver has imprisoned them into the feminised environment, thereby robbing them of a male identity. Therefore, this article was devoted to creating a shepherding model of caring for boys whose fathers are absent.
Bakrania, P; Robinson, D O; Bunyan, D J; Salt, A; Martin, A; Crolla, J A; Wyatt, A; Fielder, A; Ainsworth, J; Moore, A; Read, S; Uddin, J; Laws, D; Pascuel-Salcedo, D; Ayuso, C; Allen, L; Collin, J R O; Ragge, N K
Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and young children. Heterozygous mutations in SOX2, a SOX1B-HMG box transcription factor, have been found in up to 10% of individuals with severe microphthalmia or anophthalmia and such mutations could also be associated with a range of non-ocular abnormalities. We performed mutation analysis on a new cohort of 120 patients with congenital eye abnormalities, mainly anophthalmia, microphthalmia and coloboma. Multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridisation (FISH) were used to detect whole gene deletion. We identified four novel intragenic SOX2 mutations (one single base deletion, one single base duplication and two point mutations generating premature translational termination codons) and two further cases with the previously reported c.70del20 mutation. Of 52 patients with severe microphthalmia or anophthalmia analysed by MLPA, 5 were found to be deleted for the whole SOX2 gene and 1 had a partial deletion. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. The SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development. Our results provide further evidence that SOX2 haploinsufficiency is a common cause of severe developmental ocular malformations and that background genetic variation determines the varying phenotypes. Given the high incidence of whole gene deletion we recommend that all patients with severe microphthalmia or anophthalmia, including unilateral cases be screened by MLPA and FISH for SOX2 deletions.
Trope, G E; Eizenman, M; Coyle, E
Present-day computerized perimetry is often inaccurate and unreliable owing to the need to maintain central fixation over long periods while repressing the normal response to presentation of peripheral stimuli. We tested a new method of perimetry that does not require prolonged central fixation. During this test eye movements were encouraged on presentation of a peripheral target. Twenty-three eyes were studied with an Octopus perimeter, with a technician monitoring eye movements. The sensitivity was 100% and the specificity 23%. The low specificity was due to the technician's inability to accurately monitor small eye movements in the central 6 degrees field. If small eye movements are monitored accurately with an eye tracker, eye movement perimetry could become an alternative method to standard perimetry.
Jochman, John D; Atkinson, Douglas B; Quinonez, Luis G; Brown, Morgan L
Review the authors' institutional experience of the induction and perioperative airway management of children with tetralogy of Fallot with an absent pulmonary valve. Retrospective chart review. Large academic children's hospital. Patients with the diagnosis of tetralogy of Fallot with absent pulmonary valve undergoing primary cardiac repair over a 20-year period. None. Forty-four patients were identified with tetralogy of Fallot with an absent pulmonary valve from January 1995 through August 2014. Forty-two patients (95%) required surgery in their first year of life. Sixteen patients (36%) required mechanical ventilation preoperatively, including 11 neonates. Of the 28 patients not intubated preoperatively, only 1 (3.8%) exhibited minor airway obstruction following induction that was managed uneventfully. All intubations in the operating room were performed in the supine position. Five patients who were mechanically ventilated preoperatively in a lateral or prone position were supinated in the operating room without significant cardiopulmonary compromise. There were no patients who suffered cardiopulmonary arrest or required mechanical circulatory support. The median time to extubation was 2 days (range 1-13 days) in those patients who were not mechanically ventilated prior to their surgery. Ultimately, 5 patients required tracheostomy and 1 patient underwent lobectomy. Although, there was no mortality at 30 days, 4 children died within 1 year of their surgery. All the children who died had a genetic syndrome and required mechanical ventilation preoperatively. While there are theoretical concerns specific to the induction and airway management of tetralogy of Fallot with an absent pulmonary valve, there were no episodes of cardiorespiratory arrest or extracorporeal membrane oxygenation in the authors' series. Neonatal age at the time of surgery, preoperative need for mechanical ventilation, and concomitant genetic syndromes are risk factors for respiratory
Karakus, Sezen; Baer, Alan N; Agrawal, Devika; Gurakar, Merve; Massof, Robert W; Akpek, Esen K
To investigate the value of 3 novel autoantibodies [salivary protein 1 (SP1), carbonic anhydrase 6 (CA6), and parotid secretory protein (PSP)] in differentiating Sjögren's syndrome (SS)-related dry eye from non-SS dry eye. Forty-six dry eye patients with SS (SS dry eye), 14 dry eye patients without SS (non-SS dry eye), and 25 controls were included. The 2012 American College of Rheumatology classification criteria were used for the diagnosis of SS. After a detailed review of systems, the Ocular Surface Disease Index questionnaire, Schirmer test without anesthesia, tear film breakup time, and ocular surface staining were performed to assess dry eye. All participants underwent serological testing using a commercially available finger prick kit. Thirty-seven patients with SS (80.4%) had a positive traditional autoantibody and 28 (60.9%) had a positive novel autoantibody. Traditional autoantibodies were absent in all non-SS dry eye patients and controls. Novel autoantibodies were present in 7/14 (50%) non-SS dry eye patients and 4/25 (16%) controls. Among 3 novel autoantibodies, anti-CA6 was significantly more prevalent in the SS and non-SS dry eye groups than in controls (52.2% vs. 42.9% vs. 8.0%, P = 0.001). Dry eye patients with positive anti-CA6 alone were significantly younger than patients with only traditional autoantibodies. Anti-CA6 was associated with worse dry eye signs and symptoms. Anti-CA6 was the most prevalent novel autoantibody in patients with dry eye, and was associated with younger age and more severe disease. Longitudinal studies are needed to determine whether anti-CA6 is a marker for early SS or perhaps another form of an autoimmune dry eye disease.
A method and system for monitoring the motion of one or both eyes, includes capturing a sequence of overlapping images of a subject's face including an eye and the corresponding non-eye region; identifying a plurality of keypoints in each image; mapping corresponding keypoints in two or more images...... of the sequence; assigning the keypoints to the eye and to the corresponding non-eye region; calculating individual velocities of the corresponding keypoints in the eye and the corresponding non-eye region to obtain a distribution of velocities; extracting at least one velocity measured for the eye and at least...... one velocity measured for the corresponding non-eye region; calculating the eye-in-head velocity for the eye based upon the measured velocity for the eye and the measured velocity for the corresponding non-eye region; and calculating the eye-in-head position based upon the eye- in-head velocity....
Lim, Sung A; Nam, Doo Hyun; Lee, Jee Hye; Kwok, Seung-Ki; Park, Sung-Hwan; Chung, So-Hyang
IL-21 plays an important role in primary Sjögren syndrome (SS) pathogenesis. The purpose of this study was to evaluate IL-21 expression in tears and the conjunctiva and to analyze the impact of IL-21 on primary SS dry eyes. Eighty subjects were enrolled in this study: 30 patients with primary SS dry eye (30 eyes); 30 patients with non-SS dry eye (30 eyes), and 20 normal controls. Tear IL-21 levels were measured by flow cytometry, and IL-21 gene expression in the conjunctiva from impression cytology was evaluated by quantitative polymerase chain reaction. Ocular Surface Disease Index, tear film breakup time, Schirmer I test, and ocular surface staining scores were obtained for all patients. Primary SS dry eyes had significantly higher tear IL-21 levels than non-SS dry eyes and normal controls (P dry eyes than in non-SS dry eyes and normal controls (P dry eyes and controls. The tear IL-21 level was significantly correlated with ocular surface stain scores (r = 0.54, P dry eyes. Our findings suggest that severity of primary SS dry eye is associated with IL-21.
Paul; Barnes; Varju
The compound eyes, the canal organs of the statocysts and proprioceptors in the legs all generate compensatory eye movements in the horizontal plane in the land crab Cardisoma guanhumi. Frequency analyses of the compensatory eye reflexes elicited by each of these inputs show that visual (V) and proprioceptive (P) reflexes respond best below 0.1 Hz, while statocyst (S) reflexes only achieve a high gain above this frequency. They thus increase the range of frequencies over which compensation can occur. Eye and body movements were recorded in an arena under all possible combinations of crabs seeing or blind (V+ or V-), with or without statocysts (S+ or S-) and freely walking or passively transported on a trolley (P+ or P-). Intact crabs (V+S+P+) show good stabilisation of the eyes in space, the only movements with respect to external coordinates being saccadic resetting movements (fast phases of nystagmus). The eyes thus compensate well for body turns, but are unaffected by translatory movements of the body and turns that are not accompanied by a change in the orientation of the long axis of the body in space. In the absence of any one sense, compensation for rotation is significantly impaired, whether measured by the increase in the width of the histograms of changes in the angular positions of the eyes in space ( capdelta &phgr; E), by the mean angular velocity of the eyes (slope of regression line, mE) with respect to the angular velocity of the body (mB) or by response gain plotted against angular acceleration of body turn (a). The absence of two senses reduces the crab's ability to compensate still further, with the statocyst-only condition (V-S+P-) being little better than the condition when all three senses are absent (V-S-P-).Such multisensory control of eye compensation for body rotation is discussed both in terms of making use of every available cue for reducing retinal slip and in making available the information content of the optic flow field.
Raghunath, Azhwar; Perumal, Ekambaram
Micro-RNAs (miRNAs) are members of the family of noncoding RNA molecules that regulate gene expression by translational repression and mRNA degradation. Initial identification of miRNAs revealed them only as developmental regulators; later, their radiated roles in various cellular processes have been established. They regulate several pathways, including developmental timing, hematopoiesis, organogenesis, apoptosis, cell differentiation and proliferation. Their roles in eye disorders are being explored by biologists around the world. Eye physiology requires the perfect orchestration of all the regulatory networks; any defect in any of the networks leads to eye disorders. The dysregulation of miRNA expression has been reported in many eye disorders, which paves the way for new therapeutics. This review summarizes the biogenesis of miRNAs and their role in eye disorders. miRNA studies also have implications for the understanding of various complex metabolic pathways leading to disorders of the eye. The ultimate understanding leads to potential opportunities in evaluating miRNAs as molecular biomarkers, prognostic tools, diagnostic tools and therapeutic agents for eye disorders. © 2015 S. Karger AG, Basel.
Frølunde, Lisbeth; Pedersen, Chistina Hee
and that vulnerability and discomfort are often overlooked as transformative forces. The analysis draws on data from a classroom context in which university students tested methods for facilitating creative thinking in a course on data production and creativity. The data stem from a session on the method “Lego Serious...... in constructions of group identity when an external facilitator disrupts a context. We argue that the facilitation of creative methods calls for keeping our eyes wide open for tensions, for they are the mulch that improves the soil....
Corrales, Gustavo; Curreri, Anthony
In boxing, along with a few other sports, trauma is inherent to the nature of the sport; therefore it is considered a high-risk sport for ocular injuries. The long-term morbidity of ocular injuries suffered by boxers is difficult to estimate due to the lack of structured long-term follow-up of these athletes. Complications of blunt ocular trauma may develop years after the athlete has retired from the ring and is no longer considered to be at risk for boxing-related injuries. This article describes the wide range of eye injuries a boxer can sustain, and their immediate and long-term clinical management.
Cheri A Schaaf
Full Text Available The cohesin protein complex was first recognized for holding sister chromatids together and ensuring proper chromosome segregation. Cohesin also regulates gene expression, but the mechanisms are unknown. Cohesin associates preferentially with active genes, and is generally absent from regions in which histone H3 is methylated by the Enhancer of zeste [E(z] Polycomb group silencing protein. Here we show that transcription is hypersensitive to cohesin levels in two exceptional cases where cohesin and the E(z-mediated histone methylation simultaneously coat the entire Enhancer of split and invected-engrailed gene complexes in cells derived from Drosophila central nervous system. These gene complexes are modestly transcribed, and produce seven of the twelve transcripts that increase the most with cohesin knockdown genome-wide. Cohesin mutations alter eye development in the same manner as increased Enhancer of split activity, suggesting that similar regulation occurs in vivo. We propose that cohesin helps restrain transcription of these gene complexes, and that deregulation of similarly cohesin-hypersensitive genes may underlie developmental deficits in Cornelia de Lange syndrome.
Zhang, Youming; Juhola, Martti
Eye movements are a relatively novel data source for biometric identification. When video cameras applied to eye tracking become smaller and more efficient, this data source could offer interesting opportunities for the development of eye movement biometrics. In this paper, we study primarily biometric identification as seen as a classification task of multiple classes, and secondarily biometric verification considered as binary classification. Our research is based on the saccadic eye movement signal measurements from 109 young subjects. In order to test the data measured, we use a procedure of biometric identification according to the one-versus-one (subject) principle. In a development from our previous research, which also involved biometric verification based on saccadic eye movements, we now apply another eye movement tracker device with a higher sampling frequency of 250 Hz. The results obtained are good, with correct identification rates at 80-90% at their best.
Mardanbegi, Diako; Witzner Hansen, Dan; Pederson, Thomas
A novel method for video-based head gesture recognition using eye information by an eye tracker has been proposed. The method uses a combination of gaze and eye movement to infer head gestures. Compared to other gesture-based methods a major advantage of the method is that the user keeps the gaze...... mobile phone screens. The user study shows that the method detects a set of defined gestures reliably.......A novel method for video-based head gesture recognition using eye information by an eye tracker has been proposed. The method uses a combination of gaze and eye movement to infer head gestures. Compared to other gesture-based methods a major advantage of the method is that the user keeps the gaze...
Cesarini, J.P.; Sliney, D.H.
Under most conditions, the eye is well adapted to protect itself against ultraviolet radiation encountered in the outdoor environment as a result of the exposure geometry of the sun. Only when snow is on the ground does one experience acute effects of UV sunlight exposure (i.e. snow blindness, or photokeratitis). With regard to artificial sources, there are many occasions where one views bright light sources such as tungsten-halogen lamps, arc lamps and welding arcs. Such viewing is normally only momentary because of the aversion response to bright light and due to discomfort glare. However, such an aversion does not take place for germicidal lamps and other UV lamps which do not contain a strong visible component in their spectrum. The adverse effects from viewing such sources has been studied for decades and during the last two decades guidelines for limiting exposure to protect the eye have been developed. The guidelines were fostered to a large extent by the growing use of lasers and the quickly recognized hazard posed by viewing laser sources. (author)
Ocular scintigraphy can now be carried out with several tracers: 131 I diiodofluorescein and sup(99m)Tc, hypervascularisation indicators; 131 I iodinated chloroquine, melanoma selective. The detector used is an Anger scintillation camera coupled to a multiparameter analysis chain or a computer. The ''pin-hole'' type collimator, which has a stenopaeic opening in front of each eye, is adaptable to any inter-pupil distance. The very simple scintigraphic procedure is described. The results, taken from two statistical studies on 198 and 80 patients respectively, concern the main types of eye disease encountered: malignant melanic tumours, other tumours, metastases, choroiditis, idiopathic detachments of the retina etc... The interpretation of the scintigrams and the problems involved are considered. Finally the main indications of the method are defined with emphasis on the possibilities of double scintigraphy, diiodofluorescein only showing up the hypervascularisation often associated with the tumour whereas iodinated chloroquine, when the result is positive, points to the presence of a malignant melanoma [fr
Shtein, Roni M
Laser-assisted in situ keratomileusis (LASIK) is a frequently performed corneal refractive surgery with excellent refractive outcomes. The most common complication of LASIK is dry eyes, with virtually all patients developing some degree of dryness in the immediate postoperative period. Identifying preoperative dry eyes, and conscientious attention and treatment in the perioperative time period, can lead to enhanced patient satisfaction and more accurate visual outcomes. Improved understanding of the development of dry eyes after LASIK will advance our understanding of the complex pathophysiology of dry eye disease. PMID:22174730
Fledelius, Hans C; Christensen, Anders S; Fledelius, Christian
PURPOSE: To test Sorsby's classical statement of axial eye growth as completed at the age of 13 years, with a view also to differentiating between basic eye growth and juvenile elongation associated with eventual refractive change towards myopia. METHODS: (i) A total of 160 healthy eyes close...... about age 13 as general limit found support from the cross-sectional data, which suggested stable emmetropic eye size from about 11-12 years, with an average apparently outgrown male emmetropic value of 23.5 mm versus females' 22.9 mm. The longitudinal data, however, showed emmetropic growth also beyond...
Eberhardt, Carolyn A.; Schill, Thomas
Compared sexual permissiveness attitudes and likely behaviors of father-absent vs. father-present Black, lower-socioeconomic female adolescents (N=100). Father-absent subjects were not found to be more sexually permissive, but had significantly greater inconsistency between behavioral and attitudinal scores in which the reported behavior was more…
Bovet, Pascal; Viswanathan, Bharathi; Faeh, David; Warren, Wick
The aim of this population-based survey was to compare the prevalence of selected risk behaviors between students present or absent on the day of a school-based survey. The study population was a representative sample of all students of secondary schools in the Seychelles (Indian Ocean). Students absent on the day of the survey were traced and…
Full Text Available Absent in melanoma 2 (AIM2-like receptors (ALRs are a newly characterized class of pathogen recognition receptors (PRRs involved in cytosolic and nuclear pathogen DNA recognition. In recent years, two ALR family members, the interferon (IFN-inducible protein 16 (IFI16 and AIM2, have been linked to the pathogenesis of various autoimmune diseases, among which systemic lupus erythematosus (SLE has recently gained increasing attention. SLE patients are indeed often characterized by constitutively high serum IFN levels and increased expression of IFN-stimulated genes due to an abnormal response to pathogens and/or incorrect self-DNA recognition process. Consistently, we and others have shown that IFI16 is overexpressed in a wide range of autoimmune diseases where it triggers production of specific autoantibodies. In addition, evidence from mouse models supports a model whereby ALRs are required for IFN-mediated host response to both exogenous and endogenous DNA. Following interaction with cytoplasmic or nuclear nucleic acids, ALRs can form a functional inflammasome through association with the adaptor ASC [apoptosis-associated speck-like protein containing a caspase recruitment domain (CARD] and with procaspase-1. Importantly, inflammasome-mediated upregulation of IL-1β and IL-18 production positively correlates with SLE disease severity. Therefore, targeting ALR sensors and their downstream pathways represents a promising alternative therapeutic approach for SLE and other systemic autoimmune diseases.
Celeste de Souza Rodrigues
Full Text Available O objetivo do estudo é analisar o perfil de um conjunto de servidores públicos municipais que relataram, por ocasião de um inquérito, absenteísmo-doença nos últimos 12 meses. Em 2009 obteve-se uma amostra de 5.646 (14% do universo de 38.304 servidores municipais de Belo Horizonte. Um questionário foi disponibilizado em sítio da Internet, cuja entrada dependia do consentimento do respondente. Regressão de Poisson foi utilizada para determinar os fatores associados. A prevalência do absenteísmo-doença foi maior entre os servidores do sexo feminino (RP 1,12 e diminuiu com o aumento das faixas etárias: 30-39 anos (RP 0,79; 40-49 anos (RP 0,72; e 50 anos ou mais (RP 0,68. Absenteísmo-doença mostrou-se associado às atividades ligadas aos grupos de fiscalização e vigilância (RP 1,46, serviços gerais (RP 1,22, informação, educação e cultura (RP 1,50 e saúde (RP 1,50. As comorbidades mais presentes foram LER/Dort (RP 1,19, lombalgia (RP 1,16, depressão/ ansiedade (RP 1,20 e percepção de cansaço mental (RP 1,12. O relato de uso de medicação para depressão/ansiedade se mostrou fator protetor (RP 0,82. Maior probabilidade de transtorno mental (RP 1,23 segundo o SRQ20, insatisfação com a capacidade de trabalho (RP 1,08, condições razoáveis (RP 1,21 e condições precárias de trabalho (RP 1,19 foram associadas ao desfecho. Programas de promoção da saúde no trabalho visando a prevenção de comorbidades musculoesqueléticas e queixas psicossociais atenuariam as situações que provavelmente estão na origem do absenteísmo-doença.
Farooqui, Azhar; AlAqeel, Alaa; Habib, Zakaria
Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.
Full Text Available Prune belly syndrome (PBS is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal, and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM.
Nutting, P Bradley
The industrial and transportation revolutions of nineteenth-century America separated work from home (at least for the growing middle class) and intensified the development of masculine and feminine spheres devoted to success and domesticity, respectively. This development tended to reduce the husband's traditional patriarchal roles to that of provider only, while leaving the wife and mother with enhanced authority over household management and child rearing, a development with consequences for feminism. This article examines two extreme cases of separation of work from home: absent husbands, respected professional men, who left their wives alone for months or years and, while they provided financial support, surrendered all household authority to "single" wives.
Sylvain W Lapan
Full Text Available Optic cups are a structural feature of diverse eyes, from simple pit eyes to camera eyes of vertebrates and cephalopods. We used the planarian prototypic eye as a model to study the genetic control of optic cup formation and regeneration. We identified two genes encoding transcription factors, sp6-9 and dlx, that were expressed in the eye specifically in the optic cup and not the photoreceptor neurons. RNAi of these genes prevented formation of visible optic cups during regeneration. Planarian regeneration requires an adult proliferative cell population with stem cell-like properties called the neoblasts. We found that optic cup formation occurred only after migration of progressively differentiating progenitor cells from the neoblast population. The eye regeneration defect caused by dlx and sp6-9 RNAi can be explained by a failure to generate these early optic cup progenitors. Dlx and Sp6-9 genes function as a module during the development of diverse animal appendages, including vertebrate and insect limbs. Our work reveals a novel function for this gene pair in the development of a fundamental eye component, and it utilizes these genes to demonstrate a mechanism for total organ regeneration in which extensive cell movement separates new cell specification from organ morphogenesis.
Full Text Available About two-thirds of the vital genes in the Drosophila genome are involved in eye development, making the fly eye an excellent genetic system to study cellular function and development, neurodevelopment/degeneration, and complex diseases such as cancer and diabetes. We developed a novel computational method, implemented as Flynotyper software (http://flynotyper.sourceforge.net, to quantitatively assess the morphological defects in the Drosophila eye resulting from genetic alterations affecting basic cellular and developmental processes. Flynotyper utilizes a series of image processing operations to automatically detect the fly eye and the individual ommatidium, and calculates a phenotypic score as a measure of the disorderliness of ommatidial arrangement in the fly eye. As a proof of principle, we tested our method by analyzing the defects due to eye-specific knockdown of Drosophila orthologs of 12 neurodevelopmental genes to accurately document differential sensitivities of these genes to dosage alteration. We also evaluated eye images from six independent studies assessing the effect of overexpression of repeats, candidates from peptide library screens, and modifiers of neurotoxicity and developmental processes on eye morphology, and show strong concordance with the original assessment. We further demonstrate the utility of this method by analyzing 16 modifiers of sine oculis obtained from two genome-wide deficiency screens of Drosophila and accurately quantifying the effect of its enhancers and suppressors during eye development. Our method will complement existing assays for eye phenotypes, and increase the accuracy of studies that use fly eyes for functional evaluation of genes and genetic interactions.
Full Text Available To assess wavefront derived refraction and full eye biometry including ciliary muscle dimension and full eye axial geometry in pseudophakic eyes using spectral domain OCT equipped with a Shack-Hartmann wavefront sensor.Twenty-eight adult subjects (32 pseudophakic eyes having recently undergone cataract surgery were enrolled in this study. A custom system combining two optical coherence tomography systems with a Shack-Hartmann wavefront sensor was constructed to image and monitor changes in whole eye biometry, the ciliary muscle and ocular aberration in the pseudophakic eye. A Badal optical channel and a visual target aligning with the wavefront sensor were incorporated into the system for measuring the wavefront-derived refraction. The imaging acquisition was performed twice. The coefficients of repeatability (CoR and intraclass correlation coefficient (ICC were calculated.Images were acquired and processed successfully in all patients. No significant difference was detected between repeated measurements of ciliary muscle dimension, full-eye biometry or defocus aberration. The CoR of full-eye biometry ranged from 0.36% to 3.04% and the ICC ranged from 0.981 to 0.999. The CoR for ciliary muscle dimensions ranged from 12.2% to 41.6% and the ICC ranged from 0.767 to 0.919. The defocus aberrations of the two measurements were 0.443 ± 0.534 D and 0.447 ± 0.586 D and the ICC was 0.951.The combined system is capable of measuring full eye biometry and refraction with good repeatability. The system is suitable for future investigation of pseudoaccommodation in the pseudophakic eye.
... Español Eye Health / Eye Health A-Z Contact Lens-Related Eye Infections Sections Contact Lens-Related Eye ... Six Steps to Avoid Contact Lens Infections Contact Lens-Related Eye Infections Leer en Español: Infecciones relacionadas ...
Stepan, Michelle E; Dehnke, Taylor M; Fenn, Kimberly M
Inaccurate eyewitness identifications are the leading cause of known false convictions in the United States. Moreover, improving eyewitness memory is difficult and often unsuccessful. Sleep consistently strengthens and protects memory from interference, particularly when a recall test is used. However, the effect of sleep on recognition memory is more equivocal. Eyewitness identification tests are often recognition based, thus leaving open the question of how sleep affects recognition performance in an eyewitness context. In the current study, we investigated the effect of sleep on eyewitness memory. Participants watched a video of a mock-crime and attempted to identify the perpetrator from a simultaneous lineup after a 12-hour retention interval that either spanned a waking day or night of sleep. In Experiment 1, we used a target-present lineup and, in Experiment 2, we used a target-absent lineup in order to investigate correct and false identifications, respectively. Sleep reduced false identifications in the target-absent lineup (Experiment 2) but had no effect on correct identifications in the target-present lineup (Experiment 1). These results are discussed with respect to memory strength and decision making strategies.
Full Text Available This paper explores how, in the context of the increasing mediated permeability of the boundaries between the realms of home, privacy, in public, work and leisure, people use mobile phones to communicate with absent others whilst in public urban spaces, near others who are physically present, that is, how people negotiate place and presence when “on the phone”. Our ethnographic research of quotidian practices employed by mobile phone users in public spaces in Zagreb, Croatia, confirms that the critique put forward by some media scholars that media technologies create a homogenous, placeless world, is rather exaggerated. Place is reconstituted through a variety of ethnomethodological, and culturally specific practices which we refer to as manoeuvres of spatial juggling, practices which allow people to integrate their presence in the physical and in the virtual worlds. We identify a number of such practices, and also highlight which moral, cognitive and ritual components of micro interactions in public are challenged during mobile phone use. We conclude that, though significantly contingent and fluid, mobile phone interactions do not annihilate place but transform it into an “absent presence”.
Dehnke, Taylor M.; Fenn, Kimberly M.
Inaccurate eyewitness identifications are the leading cause of known false convictions in the United States. Moreover, improving eyewitness memory is difficult and often unsuccessful. Sleep consistently strengthens and protects memory from interference, particularly when a recall test is used. However, the effect of sleep on recognition memory is more equivocal. Eyewitness identification tests are often recognition based, thus leaving open the question of how sleep affects recognition performance in an eyewitness context. In the current study, we investigated the effect of sleep on eyewitness memory. Participants watched a video of a mock-crime and attempted to identify the perpetrator from a simultaneous lineup after a 12-hour retention interval that either spanned a waking day or night of sleep. In Experiment 1, we used a target-present lineup and, in Experiment 2, we used a target-absent lineup in order to investigate correct and false identifications, respectively. Sleep reduced false identifications in the target-absent lineup (Experiment 2) but had no effect on correct identifications in the target-present lineup (Experiment 1). These results are discussed with respect to memory strength and decision making strategies. PMID:28877169
Leni de Lima Santana
Full Text Available RESUMO Objetivo Descrever o perfil de adoecimento por transtornos mentais e comportamentais em trabalhadores de saúde de um hospital de ensino no sul do Brasil. Métodos pesquisa quantitativa, epidemiológica transversal retrospectiva cuja coleta de dados ocorreu por meio de documentos institucionais utilizados para alimentar o Sistema de Monitoramento da Saúde do Trabalhador de Enfermagem e envolveu todos os afastamentos ocorridos em 2011. Resultados Foram contabilizados 55 registros de afastamentos por Transtornos Mentais e Comportamentais que totalizaram 317 dias de absenteísmo. Os Técnicos de Enfermagem foram os profissionais mais afastados com o equivalente a 29,09% dos registros. As Unidades de Terapia Intensiva representaram os setores com o maior número de dias de absenteísmo, totalizando 81% e os Episódios depressivos obtiveram a frequência mais significativa, 52,72% dos transtornos mentais. Conclusão Os resultados evidenciaram que os transtornos mentais em trabalhadores de saúde constituem uma realidade preocupante que necessitam urgentemente de intervenções.
Michelle E Stepan
Full Text Available Inaccurate eyewitness identifications are the leading cause of known false convictions in the United States. Moreover, improving eyewitness memory is difficult and often unsuccessful. Sleep consistently strengthens and protects memory from interference, particularly when a recall test is used. However, the effect of sleep on recognition memory is more equivocal. Eyewitness identification tests are often recognition based, thus leaving open the question of how sleep affects recognition performance in an eyewitness context. In the current study, we investigated the effect of sleep on eyewitness memory. Participants watched a video of a mock-crime and attempted to identify the perpetrator from a simultaneous lineup after a 12-hour retention interval that either spanned a waking day or night of sleep. In Experiment 1, we used a target-present lineup and, in Experiment 2, we used a target-absent lineup in order to investigate correct and false identifications, respectively. Sleep reduced false identifications in the target-absent lineup (Experiment 2 but had no effect on correct identifications in the target-present lineup (Experiment 1. These results are discussed with respect to memory strength and decision making strategies.
Aisling K Brady
Full Text Available Circadian rhythms regulate many physiological, behavioral and reproductive processes. These rhythms are often controlled by light, and daily cycles of solar illumination entrain many clock regulated processes. In scleractinian corals a number of different processes and behaviors are associated with specific periods of solar illumination or non-illumination--for example, skeletal deposition, feeding and both brooding and broadcast spawning.We have undertaken an analysis of diurnal expression of the whole transcriptome and more focused studies on a number of candidate circadian genes in the coral Acropora millepora using deep RNA sequencing and quantitative PCR. Many examples of diurnal cycles of RNA abundance were identified, some of which are light responsive and damped quickly under constant darkness, for example, cryptochrome 1 and timeless, but others that continue to cycle in a robust manner when kept in constant darkness, for example, clock, cryptochrome 2, cycle and eyes absent, indicating that their transcription is regulated by an endogenous clock entrained to the light-dark cycle. Many other biological processes that varied between day and night were also identified by a clustering analysis of gene ontology annotations.Corals exhibit diurnal patterns of gene expression that may participate in the regulation of circadian biological processes. Rhythmic cycles of gene expression occur under constant darkness in both populations of coral larvae that lack zooxanthellae and in individual adult tissue containing zooxanthellae, indicating that transcription is under the control of a biological clock. In addition to genes potentially involved in regulating circadian processes, many other pathways were found to display diel cycles of transcription.
Wedel, M.; Pieters, R.
We provide the theory of visual attention and eye-movements that serves as a basis for evaluating eye-tracking research and for discussing salient and emerging issues in visual marketing. Motivated from its rising importance in marketing practice and its potential for theoretical contribution, we
Møllenbach, Emilie; Hansen, John Paulin; Lillholm, Martin
Gaze as a sole input modality must support complex navigation and selection tasks. Gaze interaction combines specific eye movements and graphic display objects (GDOs). This paper suggests a unifying taxonomy of gaze interaction principles. The taxonomy deals with three types of eye movements...
A.M. van Alphen (Arjan)
textabstractThis thesis will address the generation of compensatory eye movements in naturally mutated or genetically modified mice. The reason for generating compensatory eye movements is solely related to the requirements for good vision. In a subject moving through its environment the projection
We know that the leading cause of blindness in working-age adults is eye disease related to poorly managed diabetes. In a prevention research study, telemedicine was shown to increase the number of people getting screened for diabetic eye disease.
... condition called Cogan’s syndrome. Google AI May Reveal Health Risks Through Your Eyes FEB 20, 2018 By Ari Soglin Researchers at Google say a new application of artificial intelligence shows whether a patient’s eyes point to high ...
Biehl, J W; Valdez, J; Hemady, R K; Steidl, S M; Bourke, D L
The percentage of penetrating eye injuries in war has increased significantly in this century compared with the total number of combat injuries. With the increasing use of fragmentation weapons and possibly laser weapons on the battle-field in the future, the rate of eye injuries may exceed the 13% of the total military injuries found in Operations Desert Storm/Shield. During the Iran-Iraq War (1980-1988), eye injuries revealed that retained foreign bodies and posterior segment injuries have an improved prognosis in future military ophthalmic surgery as a result of modern diagnostic and treatment modalities. Compared with the increasing penetrating eye injuries on the battlefield, advances in ophthalmic surgery are insignificant. Eye armor, such as visors that flip up and down and protect the eyes from laser injury, needs to be developed. Similar eye protection is being developed in civilian sportswear. Penetrating eye injury in the civilian sector is becoming much closer to the military model and is now comparable for several reasons.
Pires Herton Helder Rocha
Full Text Available Eye colour of Triatoma infestans is controlled at a single autosomal locus, with black-eye as the dominant gene and red-eye as the recessive. Inheritance of these characters follows a classical Mendelian system, enabling eye colour to be used as a marker for studies of mating frequency. We found no significant differences in oviposition rates and egg hatching rates irrespective of parental phenotypes. Different mating schedules between red-eye and black-eye parents showed that eye colour did not affect mating competence. Females mated with a single male or with different males together or in succession produced similar numbers of fertile eggs, with the eye colour of the offspring reflecting exposure to the different males. We conclude that although a single mating can provide sufficient sperm for the whole reproductive life of the female, multiple matings can result in balanced assortative sperm usage from the spermatheca.
Until recently, the cause of dry eye syndrome was uncertain and the treatment was palliative. Since discovering that dry eyes are caused by inflammation, there has been an abundance of research focusing on anti-inflammatory therapies, other contributing causes, and better diagnostic testing. This review summarizes some of the interesting published research on ocular surface disease over the past year. The definition of dry eye now highlights the omnipresent symptom of blurry vision. The re-evaluation of ocular surface staining, tear meniscus height, and visual change will allow for a better diagnosis and understanding of dry eyes. Punctal plugs, and oral and topical anti-inflammatory use will strengthen our arsenal against ocular surface disease. Major progress has occurred in the past few years in gaining a better understanding of the etiology of dry eye syndrome, which will inevitably lead to more effective therapeutic options.
Full Text Available Abstract Background Analyzing global experimental data can be tedious and time-consuming. Thus, helping biologists see results as quickly and easily as possible can facilitate biological research, and is the purpose of the software we describe. Results We present BirdsEyeView, a software system for visualizing experimental transcriptomic data using different views that users can switch among and compare. BirdsEyeView graphically maps data to three views: Cellular Map (currently a plant cell, Pathway Tree with dynamic mapping, and Gene Ontology http://www.geneontology.org Biological Processes and Molecular Functions. By displaying color-coded values for transcript levels across different views, BirdsEyeView can assist users in developing hypotheses about their experiment results. Conclusions BirdsEyeView is a software system available as a Java Webstart package for visualizing transcriptomic data in the context of different biological views to assist biologists in investigating experimental results. BirdsEyeView can be obtained from http://metnetdb.org/MetNet_BirdsEyeView.htm.
... Sunglasses Sun Smart UV Safety Infographic The Sun, UV Radiation and Your Eyes Leer en Español: El ... Aug. 28, 2014 Keep an Eye on Ultraviolet (UV) Safety Eye medical doctors (ophthalmologists) caution us that ...
... tumors Drugs for cancer treatment Drugs to treat schizophrenia or psychosis Overactive thyroid gland Polycystic ovarian syndrome ... can include: Breast size changes Weight gain or weight loss Discharge from the breast or change in breast ...
Price David J
Full Text Available Abstract Background Knowledge of the consequences of heterozygous mutations of developmentally important genes is important for understanding human genetic disorders. The Gli3 gene encodes a zinc finger transcription factor and homozygous loss-of-function mutations of Gli3 are lethal. Humans heterozygous for mutations in this gene suffer Greig cephalopolysyndactyly or Pallister-Hall syndromes, in which limb defects are prominent, and mice heterozygous for similar mutations have extra digits. Here we examined whether eye development, which is abnormal in mice lacking functional Gli3, is defective in Gli3+/- mice. Results We showed that Gli3 is expressed in the developing eye but that Gli3+/- mice have only very subtle eye defects. We then generated mice compound heterozygous for mutations in both Gli3 and Pax6, which encodes another developmentally important transcription factor known to be crucial for eye development. Pax6+/-; Gli3+/- eyes were compared to the eyes of wild-type, Pax6+/- or Gli3+/- siblings. They exhibited a range of abnormalities of the retina, iris, lens and cornea that was more extensive than in single Gli3+/- or Pax6+/- mutants or than would be predicted by addition of their phenotypes. Conclusion These findings indicate that heterozygous mutations of Gli3 can impact on eye development. The importance of a normal Gli3 gene dosage becomes greater in the absence of a normal Pax6 gene dosage, suggesting that the two genes co-operate during eye morphogenesis.
Sondheimer, H.M. (Upstate Medical Center, Syracuse, NY); Oliphant, M.; Schneider, B.; Kavey, R.E.W.; Blackman, M.S.; Parker, F.B. Jr.
To expand the search for central pulmonary arteries in six patients with absence of cardiac-pulmonary continuity, computerized axial tomography (CAT) of the chest was performed. The CAT scans were compared with previous arteriograms and pulmonary vein wedge angiograms. Three patients with type IV truncus arteriosus were studied, and none had a central, right or left pulmonary artery on CAT scan. However, two patients with tetralogy of Fallot with pulmonary atresia and a patent ductus arteriosus to the right lung demonstrated the presence of a left pulmonary artery. In addition, one child with truncus arteriosus with ''absent'' left pulmonary artery demonstrated a left pulmonary artery on the CAT scan. The CAT scan may therefore enhance our ability to search for disconnected pulmonary arteries in children with complex cyanotic congenital heart disease.
Janaina Cardoso Brum
Full Text Available In March 2016, the former president Lula was conducted through a coercive way by the Federal Police in order to depose about his involvement in suspect activities related to Operation Lava Jato. The shooting or any other register of this coercive conduction have been forbidden, thus the national media began to work in the verge of this “denied image”. In this paper, we investigate the process of meaning production about this “absent image” through other images and materialities that circulate in the media discourse game regarding the destabilization/ stabilization of evidence about the March fourth current events. Therefore, the concept of lack, excess and strangeness, established by Ernst, were fundamental. We started with the hypothesis that, answering the lack of imagetic register, it was established a profusion of other imagetic, audiovisual and/or verbal discourses.
Full Text Available This paper describes how to teach Zen’s famous Ten Oxherding Pictures through Leonard Cohen’s song “Ballad of the Absent Mare.” It also explains how instructors can contextualize these pictures within the history of Buddhist visual culture and thereby frame Cohen’s adoption of them as a cowboy ballad motif. The essay begins by describing the metaphor of the ox. It then reviews three theories about the origin of the pictures, contextualizing them within the history of Buddhist visual culture. Finally, it provides a PowerPoint presentation that connects each of the Ten Oxherding Pictures to verses of Cohen’s song and offers comments for instructors’ use in class.
Coles-Brennan, Chantal; Sulley, Anna; Young, Graeme
Digital eye strain, an emerging public health issue, is a condition characterised by visual disturbance and/or ocular discomfort related to the use of digital devices and resulting from a range of stresses on the ocular environment. This review aims to provide an overview of the extensive literature on digital eye strain research with particular reference to the clinical management of symptoms. As many as 90 per cent of digital device users experience symptoms of digital eye strain. Many studies suggest that the following factors are associated with digital eye strain: uncorrected refractive error (including presbyopia), accommodative and vergence anomalies, altered blinking pattern (reduced rate and incomplete blinking), excessive exposure to intense light, closer working distance, and smaller font size. Since a symptom may be caused by one or more factors, a holistic approach should be adopted. The following management strategies have been suggested: (i) appropriate correction of refractive error, including astigmatism and presbyopia; (ii) management of vergence anomalies, with the aim of inducing or leaving a small amount of heterophoria (~1.5 Δ Exo); (iii) blinking exercise/training to maintain normal blinking pattern; (iv) use of lubricating eye drops (artificial tears) to help alleviate dry eye-related symptoms; (v) contact lenses with enhanced comfort, particularly at end-of-day and in challenging environments; (vi) prescription of colour filters in all vision correction options, especially blue light-absorbing filters; and (vii) management of accommodative anomalies. Prevention is the main strategy for management of digital eye strain, which involves: (i) ensuring an ergonomic work environment and practice (through patient education and the implementation of ergonomic workplace policies); and (ii) visual examination and eye care to treat visual disorders. Special consideration is needed for people at a high risk of digital eye strain, such as computer
... disease,” Miller says. “With current technology, thousands of cells must die before it’s detected.” His team’s new method would allow eye doctors to see the damage earlier. In glaucoma, ...
Result : Among 1,520 examined children, three children had absent eyeball bilaterally and three had unilaterally absent eyeball. Strabismus and nystagmus were detected in 44 (2.9% and 18 (1.2% children respectively. ′Hiding Heidi′ test was normal in 530/537 (87% of children. Distant vision reading was ≥0.32 in 386/448 (86.2% eyes. Preferential looking test suggested that half of the children had defective vision (>2cpcm. Screening at ′1-2 year′ and ′3-4 years′ age group could significantly predict eye problems ( P≤0.001. Conclusion : Eye and vision screening of under-five kids helped in detection of eye problems in early stages. Instead of universal screening, high risk population or children of ′3 to 4′ years for vision and ′1 to 2′ years for ocular abnormalities is proposed The existing health services could not detect some children with eye problems and they were identified during such screening.
Full Text Available Embedded systems control and monitor a great deal of our reality. While some “classic” features are intrinsically necessary, such as low power consumption, rugged operating ranges, fast response and low cost, these systems have evolved in the last few years to emphasize connectivity functions, thus contributing to the Internet of Things paradigm. A myriad of sensing/computing devices are being attached to everyday objects, each able to send and receive data and to act as a unique node in the Internet. Apart from the obvious necessity to process at least some data at the edge (to increase security and reduce power consumption and latency, a major breakthrough will arguably come when such devices are endowed with some level of autonomous “intelligence”. Intelligent computing aims to solve problems for which no efficient exact algorithm can exist or for which we cannot conceive an exact algorithm. Central to such intelligence is Computer Vision (CV, i.e., extracting meaning from images and video. While not everything needs CV, visual information is the richest source of information about the real world: people, places and things. The possibilities of embedded CV are endless if we consider new applications and technologies, such as deep learning, drones, home robotics, intelligent surveillance, intelligent toys, wearable cameras, etc. This paper describes the Eyes of Things (EoT platform, a versatile computer vision platform tackling those challenges and opportunities.
Deniz, Oscar; Vallez, Noelia; Espinosa-Aranda, Jose L; Rico-Saavedra, Jose M; Parra-Patino, Javier; Bueno, Gloria; Moloney, David; Dehghani, Alireza; Dunne, Aubrey; Pagani, Alain; Krauss, Stephan; Reiser, Ruben; Waeny, Martin; Sorci, Matteo; Llewellynn, Tim; Fedorczak, Christian; Larmoire, Thierry; Herbst, Marco; Seirafi, Andre; Seirafi, Kasra
Embedded systems control and monitor a great deal of our reality. While some "classic" features are intrinsically necessary, such as low power consumption, rugged operating ranges, fast response and low cost, these systems have evolved in the last few years to emphasize connectivity functions, thus contributing to the Internet of Things paradigm. A myriad of sensing/computing devices are being attached to everyday objects, each able to send and receive data and to act as a unique node in the Internet. Apart from the obvious necessity to process at least some data at the edge (to increase security and reduce power consumption and latency), a major breakthrough will arguably come when such devices are endowed with some level of autonomous "intelligence". Intelligent computing aims to solve problems for which no efficient exact algorithm can exist or for which we cannot conceive an exact algorithm. Central to such intelligence is Computer Vision (CV), i.e., extracting meaning from images and video. While not everything needs CV, visual information is the richest source of information about the real world: people, places and things. The possibilities of embedded CV are endless if we consider new applications and technologies, such as deep learning, drones, home robotics, intelligent surveillance, intelligent toys, wearable cameras, etc. This paper describes the Eyes of Things (EoT) platform, a versatile computer vision platform tackling those challenges and opportunities.
Trompoukis, Constantinos; Kourkoutas, Dimitrios
In distant eras, mythology was a form of expression used by many peoples. A study of the Greek myths reveals concealed medical knowledge, in many cases relating to the eye. An analysis was made of the ancient Greek texts for mythological references relating to an understanding of vision, visual abilities, the eye, its congenital and acquired abnormalities, blindness, and eye injuries and their treatment. The Homeric epics contain anatomical descriptions of the eyes and the orbits, and an elementary knowledge of physiology is also apparent. The concept of the visual field can be seen in the myth of Argos Panoptes. Many myths describe external eye disease ("knyzosis"), visual disorders (amaurosis), and cases of blinding that, depending on the story, are ascribed to various causes. In addition, ocular motility abnormalities, congenital anomalies (cyclopia), injuries, and special treatments, such as the "licking" method, are mentioned. The study of mythological references to the eye reveals reliable medical observations of the ancient Greeks, which are concealed within the myths.
Nieuwenhuijsen, K.; de Boer, A.G.E.M.; Verbeek, J.H.A.M.; Blonk, R.W.B.; van Dijk, F.J.H.
Aims: To (1) evaluate the psychometric properties and (2) examine the ability to detect cases with anxiety disorder and depression in a population of employees absent from work because of mental health problems.
Med/Medline, ISI Web of Knowledge, Cochrane, and SciELO databases were reviewed. Results: Saccadic eye movement appears to be heavily involved in psychiatric diseases covered in this review via a direct mechanism. The changes seen in the execution of eye movement tasks in patients with psychopathologies of various studies confirm that eye movement is associated with the cognitive and motor system. Conclusion: Saccadic eye movement changes appear to be heavily involved in the psychiatric disorders covered in this review and may be considered a possible marker of some disorders. The few existing studies that approach the topic demonstrate a need to improve the experimental paradigms, as well as the methods of analysis. Most of them report behavioral variables (latency/reaction time, though electrophysiological measures are absent. Keywords: depression, bipolar disorder, attention-deficit hyperactivity disorder, schizophrenia, anxiety disorder
LoCascio, Samuel A; Lapan, Sylvain W; Reddien, Peter W
Dividing cells called neoblasts contain pluripotent stem cells and drive planarian flatworm regeneration from diverse injuries. A long-standing question is whether neoblasts directly sense and respond to the identity of missing tissues during regeneration. We used the eye to investigate this question. Surprisingly, eye removal was neither sufficient nor necessary for neoblasts to increase eye progenitor production. Neoblasts normally increase eye progenitor production following decapitation, facilitating regeneration. Eye removal alone, however, did not induce this response. Eye regeneration following eye-specific resection resulted from homeostatic rates of eye progenitor production and less cell death in the regenerating eye. Conversely, large head injuries that left eyes intact increased eye progenitor production. Large injuries also non-specifically increased progenitor production for multiple uninjured tissues. We propose a model for eye regeneration in which eye tissue production by planarian stem cells is not directly regulated by the absence of the eye itself. Copyright © 2017 Elsevier Inc. All rights reserved.
Patient Education Sheet Simple Solutions for Dry Eye The SSF thanks J. Daniel Nelson, MD, Associate Medical Director, Specialty Care HealthPartners Medical Group & Clinics, and Professor of Ophthalmology, University of ...
There was positive history of application of traditional eye medicine and an unsuccessful attempt was made ... in the dry season in the northern parts of Nigeria, ... Hematocrit, serum urea and electrolytes were within normal limits. Treatment.
National Aeronautics and Space Administration — Eyes on the Solar System is a software package developed by NASA Jet Propulsion Laboratory and the California Institute of Technology using data provided by NASA's...
Full Text Available In this selective review, we examine key findings on eye movements when viewing advertisements. We begin with a brief, general introduction to the properties and neural underpinnings of saccadic eye movements. Next, we provide an overview of eye movement behavior during reading, scene perception, and visual search, since each of these activities is, at various times, involved in viewing ads. We then review the literature on eye movements when viewing print ads and warning labels (of the kind that appear on alcohol and tobacco ads, before turning to a consideration of advertisements in dynamic media (television and the Internet. Finally, we propose topics and methodological approaches that may prove to be useful in future research.
Full Text Available The seven Exchange articles that follow are based on the dissertations of students at the International Centre for Eye Health, London School of Hygiene and Tropical Medicine, who graduated in 2008.
Shtein, Roni M
Laser-assisted in situ keratomileusis (LASIK) is a frequently performed corneal refractive surgery with excellent refractive outcomes. The most common complication of LASIK is dry eyes, with virtually all patients developing some degree of dryness in the immediate postoperative period. Identifying preoperative dry eyes, and conscientious attention and treatment in the perioperative time period, can lead to enhanced patient satisfaction and more accurate visual outcomes. Improved understanding...
Full Text Available Purpose: The aim of this study is to identify quality indicators of the eye bank and validate their effectivity. Methods: Adverse reaction rate, discard rate, protocol deviation rate, and compliance rate were defined as Quality Indicators of the eye bank. These were identified based on definition of quality that captures two dimensions – “result quality” and “process quality.” The indicators were measured and tracked as part of quality assurance (QA program of the eye bank. Regular audits were performed to validate alignment of standard operating procedures (SOP with regulatory and surgeon acceptance standards and alignment of activities performed in the eye bank with the SOP. Prospective study of the indicators was performed by comparing their observed values over the period 2011–2016. Results: Adverse reaction rate decreased more than 8-fold (from 0.61% to 0.07%, discard rate decreased and stabilized at 30%, protocol deviation rate decreased from 1.05% to 0.08%, and compliance rate reported by annual quality audits improved from 59% to 96% at the same time. In effect, adverse reaction rate, discard rate, and protocol deviation rate were leading indicators, and compliance rate was the trailing indicator. Conclusion: These indicators fulfill an important gap in available literature on QA in eye banking. There are two ways in which these findings can be meaningful. First, eye banks which are new to quality measurement can adopt these indicators. Second, eye banks which are already deeply engaged in quality improvement can test these indicators in their eye bank, thereby incorporating them widely and improving them over time.
Acharya, Manisha; Biswas, Saurabh; Das, Animesh; Mathur, Umang; Dave, Abhishek; Singh, Ashok; Dubey, Suneeta
The aim of this study is to identify quality indicators of the eye bank and validate their effectivity. Adverse reaction rate, discard rate, protocol deviation rate, and compliance rate were defined as Quality Indicators of the eye bank. These were identified based on definition of quality that captures two dimensions - "result quality" and "process quality." The indicators were measured and tracked as part of quality assurance (QA) program of the eye bank. Regular audits were performed to validate alignment of standard operating procedures (SOP) with regulatory and surgeon acceptance standards and alignment of activities performed in the eye bank with the SOP. Prospective study of the indicators was performed by comparing their observed values over the period 2011-2016. Adverse reaction rate decreased more than 8-fold (from 0.61% to 0.07%), discard rate decreased and stabilized at 30%, protocol deviation rate decreased from 1.05% to 0.08%, and compliance rate reported by annual quality audits improved from 59% to 96% at the same time. In effect, adverse reaction rate, discard rate, and protocol deviation rate were leading indicators, and compliance rate was the trailing indicator. These indicators fulfill an important gap in available literature on QA in eye banking. There are two ways in which these findings can be meaningful. First, eye banks which are new to quality measurement can adopt these indicators. Second, eye banks which are already deeply engaged in quality improvement can test these indicators in their eye bank, thereby incorporating them widely and improving them over time.
Bjerrum, Søren Solborg; la Cour, Morten
BACKGROUND: To study the epidemiology of patients with endogenous endophthalmitis in Denmark. MATERIAL AND METHODS: Retrospective and prospective case series of 59 eyes in patients with endogenous endophthalmitis in Denmark between 2000 and 2016. RESULTS: The age of the patients ranged from 28 to......, the visual outcome and the mortality of the patients. The epidemiology of the disease is very different in Scandinavia compared to Asia. The visual prognosis remains grave and the majority of the eyes lose useful vision....
Snir, M.; Margaliot, M.; Amitzi, A.
During the 1970's, Ruby (Q switched) laser based range finders with a wavelength of 694nm were first used. These lasers operated in a pulse mode within the visible light range and produced a risk for the eye retina. The laser beam striking the macula could damage the eye and might cause blindness. Over the years, Nd:YAG (Q switched) lasers were developed (operating at 1064nm) for range finding and designation uses. The wavelength of these lasers, operating in the near Infra-Red range (invisible), is also focused tightly on the retina. The human eye does not respond to the invisible light so there is no natural protection (eye blink reflex) as in the visible light. The operation of these lasers worldwide, especially when the laser beam is exposed, causes occasional eye accidents. Another risk is stemming from the use of observation systems with a high optical gain, in the laser operation areas, which enlarge the range of risk quite significantly. Therefore, research and development efforts were invested in order to introduce eye safe lasers. One of the solutions for this problem is presented in following document
Marshall, Leisa L; Roach, J Michael
Review of the etiology, clinical manifestations, and treatment of dry eye disease (DED). Articles indexed in PubMed (National Library of Medicine), Iowa Drug Information Service (IDIS), and the Cochrane Reviews and Trials in the last 10 years using the key words "dry eye disease," "dry eye syndrome," "dry eye and treatment." Primary sources were used to locate additional resources. Sixty-eight publications were reviewed, and criteria supporting the primary objective were used to identify useful resources. The literature included practice guidelines, book chapters, review articles, original research articles, and product prescribing information for the etiology, clinical manifestations, diagnosis, and treatment of DED. DED is one of the most common ophthalmic disorders. Signs and symptoms of DED vary by patient, but may include ocular irritation, redness, itching, photosensitivity, visual blurring, mucous discharge, and decreased tear meniscus or break-up time. Symptoms improve with treatment, but the condition is not completely curable. Treatment includes reducing environmental causes, discontinuing medications that cause or worsen dry eye, and managing contributing ocular or systemic conditions. Most patients use nonprescription tear substitutes, and if these are not sufficient, other treatment is prescribed. These treatments include the ophthalmic anti-inflammatory agent cyclosporine, punctal occlusion, eye side shields, systemic cholinergic agents, and autologous serum tears. This article reviews the etiology, symptoms, and current therapy for DED.
Chen, Weiwei; Yang, Shuai; Zhou, Zhonglou; Zhao, Xiaoting; Zhong, Jiayun; Reinach, Peter S; Yan, Dongsheng
Long noncoding RNAs (lncRNAs) are important regulators of diverse biological functions. However, an extensive in-depth analysis of their expression profile and function in mammalian eyes is still lacking. Here we describe comprehensive landscapes of stage-dependent and tissue-specific lncRNA expression in the mouse eye. Affymetrix transcriptome array profiled lncRNA signatures from six different ocular tissue subsets (i.e., cornea, lens, retina, RPE, choroid, and sclera) in newborn and 8-week-old mice. Quantitative RT-PCR analysis validated array findings. Cis analyses and Gene Ontology (GO) annotation of protein-coding genes adjacent to signature lncRNA loci clarified potential lncRNA roles in maintaining tissue identity and regulating eye maturation during the aforementioned phase. In newborn and 8-week-old mice, we identified 47,332 protein-coding and noncoding gene transcripts. LncRNAs comprise 19,313 of these transcripts annotated in public data banks. During this maturation phase of these six different tissue subsets, more than 1000 lncRNAs expression levels underwent ≥2-fold changes. qRT-PCR analysis confirmed part of the gene microarray analysis results. K-means clustering identified 910 lncRNAs in the P0 groups and 686 lncRNAs in the postnatal 8-week-old groups, suggesting distinct tissue-specific lncRNA clusters. GO analysis of protein-coding genes proximal to lncRNA signatures resolved close correlations with their tissue-specific functional maturation between P0 and 8 weeks of age in the 6 tissue subsets. Characterizating maturational changes in lncRNA expression patterns as well as tissue-specific lncRNA signatures in six ocular tissues suggest important contributions made by lncRNA to the control of developmental processes in the mouse eye.
Genes involved in myopathies: 82 genes, based on the disease groups ... 605517 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye ..... Epilepsy, X-linked, with variable learning disabilities and behavior disorders. 300491.
Hammoud, Riad I.; Hansen, Dan Witzner
While existing eye detection and tracking algorithms can work reasonably well in a controlled environment, they tend to perform poorly under real world imaging conditions where the lighting produces shadows and the person's eyes can be occluded by e.g. glasses or makeup. As a result, pixel clusters...... associated with the eyes tend to be grouped together with background-features. This problem occurs both for eye detection and eye tracking. Problems that especially plague eye tracking include head movement, eye blinking and light changes, all of which can cause the eyes to suddenly disappear. The usual...... approach in such cases is to abandon the tracking routine and re-initialize eye detection. Of course this may be a difficult process due to missed data problem. Accordingly, what is needed is an efficient method of reliably tracking a person's eyes between successively produced video image frames, even...
Haitham Y Al-Nashar
Purpose The aim of the present study was to evaluate the effectiveness of cyclosporine 0.05% in the treatment of dry-eye disease. Patients and methods A total of 35 eyes of 20 patients with dry-eye disease were included in the present study. Ten patients (20 eyes) had dry eyes associated with systemic rheumatologic disease (Sjögren′s syndrome), five patients (10 eyes) had dry eyes after undergoing laser in-situ keratomileusis, and five patients (five eyes) had dry eyes after cataract...
de Paiva, Cintia S.
Dry eye affects millions of people worldwide and causes eye well recognized risk factors for dry eye. Anatomical and inflammation-induced age-related changes affect all components of the lacrimal gland functional unit, inclusive of lacrimal gland, conjunctiva, meibomian gland and compromise ocular surface health. There is increased evidence that inflammation plays a role in dry eye. This review will summarize the current knowledge about aging and dry eye, inclusive of lessons learned from animal models and promising therapies. PMID:28282314
Erickson, J Alan; Grenache, David G
Routine testing for chromogranin A (CgA) using an established commercial ELISA revealed an apparent high-dose hook effect in approximately 15% of specimens. Investigations found the same effect in two additional ELISAs. We hypothesized that a CgA derived peptide(s) at high concentrations was responsible but experiments were inconclusive. Here we describe the analytical performance characteristics of the Chromoa™ CgA ELISA that did not display the apparent high-dose hook effect. Performance characteristics of the Chromoa ELISA were assessed. The reference interval was established utilizing healthy volunteers. Specimens producing the apparent high-dose hook effect in other assays were evaluated using the Chromoa ELISA. The limit of detection was 8ng/ml. Linearity was acceptable (slope=1.04, intercept=18.1 and r(2)=0.997). CVs were ≤4.6 and ≤9.3% for repeatability and within-laboratory imprecision, respectively. CgA was stable at ambient and refrigerated temperatures for a minimum of two and 14days, respectively. An upper reference interval limit of 95ng/ml was established. Specimens demonstrating the apparent high-dose hook effect in other ELISAs did not exhibit the phenomenon using the Chromoa ELISA. The Chromoa ELISA demonstrates acceptable performance for quantifying serum CgA. The apparent high-dose hook effect exhibited in other ELISAs was absent using the Chromoa assay. Copyright © 2015 Elsevier B.V. All rights reserved.
Sainsbury, David C G; George, Alan; Forrest, Christopher R; Phillips, John H
The authors performed bilateral malar reconstruction using polyether ether ketone implants in 3 patients with Treacher-Collins syndrome with absent, as opposed to hypoplastic, zygomata. These patient-specific implants were fabricated using computed-aided design software reformatted from three-dimensional bony preoperative computed tomography images. The first time the authors performed this procedure the implant compressed the globe resulting in temporary anisocoria that was quickly recognized intraoperatively. The implant was immediately removed and the patient made a full-recovery with no ocular disturbance. The computer-aided design and manufacturing process was adjusted to include periorbital soft-tissue boundaries to aid in contouring the new implants. The same patient, and 2 further patients, subsequently underwent malar reconstruction using this soft tissue periorbital boundary fabrication process with an additional 2 mm relief removed from the implant's orbital surface. These subsequent procedures were performed without complication and with pleasing aesthetic results. The authors describe their experience and the salutary lessons learnt.
... correctly, a child can have a genetic disorder. Gene therapy is an experimental technique that uses genes to ... or prevent disease. The most common form of gene therapy involves inserting a normal gene to replace an ...
Mishra, Abhishek Kumar; Bargmann, Bastiaan O R; Tsachaki, Maria; Fritsch, Cornelia; Sprecher, Simon G
Sensory perception of light is mediated by specialized Photoreceptor neurons (PRs) in the eye. During development all PRs are genetically determined to express a specific Rhodopsin (Rh) gene and genes mediating a functional phototransduction pathway. While the genetic and molecular mechanisms of PR development is well described in the adult compound eye, it remains unclear how the expression of Rhodopsins and the phototransduction cascade is regulated in other visual organs in Drosophila, such as the larval eye and adult ocelli. Using transcriptome analysis of larval PR-subtypes and ocellar PRs we identify and study new regulators required during PR differentiation or necessary for the expression of specific signaling molecules of the functional phototransduction pathway. We found that the transcription factor Krüppel (Kr) is enriched in the larval eye and controls PR differentiation by promoting Rh5 and Rh6 expression. We also identified Camta, Lola, Dve and Hazy as key genes acting during ocellar PR differentiation. Further we show that these transcriptional regulators control gene expression of the phototransduction cascade in both larval eye and adult ocelli. Our results show that PR cell type-specific transcriptome profiling is a powerful tool to identify key transcriptional regulators involved during several aspects of PR development and differentiation. Our findings greatly contribute to the understanding of how combinatorial action of key transcriptional regulators control PR development and the regulation of a functional phototransduction pathway in both larval eye and adult ocelli. Copyright © 2015 Elsevier Inc. All rights reserved.
Lilles, Stella; Talvik, Inga; Noormets, Klari; Vaher, Ulvi; Õunap, Katrin; Reimand, Tiia; Sander, Valentin; Ilves, Pilvi; Talvik, Tiina
Cyclin-dependent kinase-like 5 ( CDKL5 ) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. To date, only 22 boys have been reported, presenting with far more severe phenotypic features. We report the first cases of CDKL5 gene-related EIEE in Estonia diagnosed using panels of epilepsy-associated genes and describe the phenotype-genotype correlations in three male and one female patient. One of the mutations, identified in a male patient, was a novel de novo hemizygous frameshift mutation (NM_003159.2:c.2225_2228del (p.Glu742Afs*41)) in exon 15 of CDKL5. All boys have a more severe phenotype than the female patient. In boys with early onset of seizures and poor development with absent or poor eye contact, CDKL5 gene-related EIEE can be suspected and epilepsy-associated genes should be analyzed for early etiological diagnosis. Early genetic diagnosis would be the cornerstone in personalized treatment in the future. Georg Thieme Verlag KG Stuttgart · New York.
Céspedes, Héctor A; Zavala, Kattina; Vandewege, Michael W; Opazo, Juan C
Evolutionary studies of genes that have been functionally characterized and whose variation has been associated with pathological conditions represent an opportunity to understand the genetic basis of pathologies. α 2 -Adrenoreceptors (ADRA2) are a class of G protein-coupled receptors that regulate several physiological processes including blood pressure, platelet aggregation, insulin secretion, lipolysis, and neurotransmitter release. This gene family has been extensively studied from a molecular/physiological perspective, yet much less is known about its evolutionary history. Accordingly, the goal of this study was to investigate the evolutionary history of α 2 -adrenoreceptors (ADRA2) in vertebrates. Our results show that in addition to the three well-recognized α 2 -adrenoreceptor genes (ADRA2A, ADRA2B and ADRA2C), we recovered a clade that corresponds to the fourth member of the α 2 -adrenoreceptor gene family (ADRA2D). We also recovered a clade that possesses two ADRA2 sequences found in two lamprey species. Furthermore, our results show that mammals and crocodiles are characterized by possessing three α 2 -adrenoreceptor genes, whereas all other vertebrate groups possess the full repertoire of α 2 -adrenoreceptor genes. Among vertebrates ADRA2D seems to be a dispensable gene, as it was lost two independent times during the evolutionary history of the group. Additionally, we found that most examined species possess the most common alleles described for humans; however, there are cases in which non-human mammals possess the alternative variant. Finally, transcript abundance profiles revealed that during the early evolutionary history of gnathostomes, the expression of ADRA2D in different taxonomic groups became specialized to different tissues, but in the ancestor of sarcopterygians this specialization would have been lost. Copyright © 2017 Elsevier Inc. All rights reserved.
Full Text Available In some extant ectotherms, the third eye (or pineal eye is a photosensitive organ located in the parietal foramen on the midline of the skull roof. The pineal eye sends information regarding exposure to sunlight to the pineal complex, a region of the brain devoted to the regulation of body temperature, reproductive synchrony, and biological rhythms. The parietal foramen is absent in mammals but present in most of the closest extinct relatives of mammals, the Therapsida. A broad ranging survey of the occurrence and size of the parietal foramen in different South African therapsid taxa demonstrates that through time the parietal foramen tends, in a convergent manner, to become smaller and is absent more frequently in eutherocephalians (Akidnognathiidae, Whaitsiidae, and Baurioidea and non-mammaliaform eucynodonts. Among the latter, the Probainognathia, the lineage leading to mammaliaforms, are the only one to achieve the complete loss of the parietal foramen. These results suggest a gradual and convergent loss of the photoreceptive function of the pineal organ and degeneration of the third eye. Given the role of the pineal organ to achieve fine-tuned thermoregulation in ectotherms (i.e., “cold-blooded” vertebrates, the gradual loss of the parietal foramen through time in the Karoo stratigraphic succession may be correlated with the transition from a mesothermic metabolism to a high metabolic rate (endothermy in mammalian ancestry. The appearance in the eye of melanopsin-containing retinal ganglion cells replacing the photoreceptive role of the pineal eye could also have accompanied its loss.
Full Text Available Helen M Rasmussen,1 Elizabeth J Johnson2 1Educational Studies, Lesley University, Cambridge, MA, USA; 2Carotenoid and Health Laboratory, Jean Mayer US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA Abstract: The incidence of age-related eye diseases is expected to rise with the aging of the population. Oxidation and inflammation are implicated in the etiology of these diseases. There is evidence that dietary antioxidants and anti-inflammatories may provide benefit in decreasing the risk of age-related eye disease. Nutrients of interest are vitamins C and E, β-carotene, zinc, lutein, zeaxanthin, and the omega-3 fatty acids eicosapentaenoic acid and docosahexaenoic acid. While a recent survey finds that among the baby boomers (45–65 years old, vision is the most important of the five senses, well over half of those surveyed were not aware of the important nutrients that play a key role in eye health. This is evident from a national survey that finds that intake of these key nutrients from dietary sources is below the recommendations or guidelines. Therefore, it is important to educate this population and to create an awareness of the nutrients and foods of particular interest in the prevention of age-related eye disease. Keywords: nutrition, aging, eye health
Huang, Jinglin; Gharib, Morteza
Drug injection is an important technique in certain treatments of eye diseases. The efficacy of chemical mixing plays an important role in determining pharmacokinetics of injected drugs. In this study, we build a device to study the chemical mixing behavior in a spherical structure. The mixing process is visualized and analyzed qualitatively. We hope to understand the chemical convection and diffusion behaviors in correlation with controlled rapid mechanical movements. The results will have potential applications in treatment of eye diseases. Resnick Institute at Caltech.
Full Text Available Gestational diabetes mellitus (GDM is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg was injected into the air sac of chick embryos on embryo development day (EDD 1 to develop a hyperglycemia model. Results showed that 47.3% of embryonic eye malformation happened on EDD 5. In this model, the key genes regulating eye development, Pax6, Six3 and Otx2, were downregulated by hyperglycemia. Among these genes, the expression of Pax6 was the most vulnerable to hyperglycemia, being suppressed by 70%. A reduction in Pax6 gene expression induced eye malformation in chick embryos. However, increased expression of Pax6 in chick embryos could rescue hyperglycemia-induced eye malformation. Hyperglycemia stimulated O-linked N-acetylglucosaminylation, which caused oxidative stress in chick embryos. Pax6 was found to be vulnerable to free radicals, but the antioxidant edaravone could restore Pax6 expression and reverse eye malformation. These results illustrated a successful establishment of a new chick embryo model to study the molecular mechanism of hyperglycemia-induced eye malformation. The suppression of the Pax6 gene is probably mediated by oxidative stress and could be a crucial target for the therapy of GDM-induced embryonic eye malformation.
Zhang, Shi-Jie; Li, Yi-Fang; Tan, Rui-Rong; Tsoi, Bun; Huang, Wen-Shan; Huang, Yi-Hua; Tang, Xiao-Long; Hu, Dan; Yao, Nan; Yang, Xuesong; Kurihara, Hiroshi; Wang, Qi; He, Rong-Rong
Gestational diabetes mellitus (GDM) is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg) was injected into the air sac of chick embryos on embryo development day (EDD) 1 to develop a hyperglycemia model. Results showed that 47.3% of embryonic eye malformation happened on EDD 5. In this model, the key genes regulating eye development, Pax6, Six3 and Otx2, were downregulated by hyperglycemia. Among these genes, the expression of Pax6 was the most vulnerable to hyperglycemia, being suppressed by 70%. A reduction in Pax6 gene expression induced eye malformation in chick embryos. However, increased expression of Pax6 in chick embryos could rescue hyperglycemia-induced eye malformation. Hyperglycemia stimulated O-linked N-acetylglucosaminylation, which caused oxidative stress in chick embryos. Pax6 was found to be vulnerable to free radicals, but the antioxidant edaravone could restore Pax6 expression and reverse eye malformation. These results illustrated a successful establishment of a new chick embryo model to study the molecular mechanism of hyperglycemia-induced eye malformation. The suppression of the Pax6 gene is probably mediated by oxidative stress and could be a crucial target for the therapy of GDM-induced embryonic eye malformation. © 2016. Published by The Company of Biologists Ltd.
Meloni, Marisa; De Servi, Barbara; Marasco, Daniela; Del Prete, Salvatore
The present study was concerned with the development of a new experimental model of dry eye using human reconstructed in vitro corneal epithelium (HCE). The model is based on the use of adapted culture conditions that induce relevant modifications at the cellular and molecular level thus mimicking dry eye. The HCE model was maintained in a controlled environmental setting (relative humidity eye. The evolution of the dry eye condition was assessed by histology, immunohistochemistry staining, scanning electron microscopy, and gene expression by using TaqMan gene assay technology (mucin-4 [MUC4], matrix metallopeptidase-9 [MMP9], tumor necrosis factor-α [TNF-α], and defensin β-2 [DEFB2). The effects of different commercially available tear substitutes on the induced dry eye condition were tested. This in vitro dry eye HCE model, that was well established within 24 h, has the characteristic features of a dry eye epithelium and could be satisfactorily used for preliminary assessment of the protective activity of some artificial tears. The transcriptional study of selected biomarkers showed an increase in MUC4, MMP9, TNF-α, and hBD-2 (DEFB2) gene expression. By using a dynamic approach, we were able to define a biomarker gene signature of dry eye-induced effects that could be predictive of corneal damage in vivo and to discriminate the efficacy among different commercial artificial tears.
... of Our 5-Part Series: Punctal Plugs for Dry Eye Making healthy lifestyle choices can help you protect ... discuss each item in detail. Punctal Plugs for Dry Eye Dry eye is a condition that millions of ...
... Antibiotics for eye injections; and Punctal plugs for dry eye . This is the fourth in a series of ... why patients and their ophthalmologists should discuss treating dry eye with punctal plugs only after other treatment options ...
Rasmussen, Marie L R; Prause, Jan U; Toft, Peter B
Purpose: To characterize the quality of phantom pain, its intensity and frequency following eye amputation. Possible triggers and relievers of phantom pain are investigated. Methods: The hospital database was searched using surgery codes for patients who received ocular evisceration, enucleation...... was conducted by a trained interviewer. Results: Of the 173 patients in the study, 39 experienced phantom pain. The median age of patients who had experienced phantom pain was 45 years (range: 19–88). Follow-up time from eye amputation to participation in the investigation was 4 years (range: 2–46). Phantom...... scale, ranging from 0 to 100, was 36 (range: 1–89). One-third of the patients experienced phantom pain every day. Chilliness, windy weather and psychological stress/fatigue were the most commonly reported triggers for pain. Conclusions: Phantom pain after eye amputation is relatively common. The pain...
Benjamin W Tatler
Full Text Available The impact of Yarbus's research on eye movements was enormous following the translation of his book Eye Movements and Vision into English in 1967. In stark contrast, the published material in English concerning his life is scant. We provide a brief biography of Yarbus and assess his impact on contemporary approaches to research on eye movements. While early interest in his work focused on his study of stabilised retinal images, more recently this has been replaced with interest in his work on the cognitive influences on scanning patterns. We extended his experiment on the effect of instructions on viewing a picture using a portrait of Yarbus rather than a painting. The results obtained broadly supported those found by Yarbus.
Tran, Ann Q; Hoppener, Catherine; Venkateswaran, Nandini; Choi, Daniel S; Lee, Wendy W
Introduced in 2008 and subsequently popularized in South Korea, cosmetic eye whitening has been offered as a treatment of chronic conjunctival hyperemia. Patients undergo conjunctivectomy with topical mitomycin C (MMC) 0.02% application to achieve a whitened appearance from bleaching of avascular sclera. Much speculation has arisen from this procedure given the limited available evidence on its efficacy and safety. A literature search was performed to review common complications of cosmetic eye whitening, including chronic conjunctival epithelial defects, scleral thinning, avascular zones in the sclera, dry eye syndrome, and diplopia requiring strabismus surgery. Informing the general public of the risks of this procedure is of great importance for dermatologists and other cosmetic surgeons.
Silverman, Ronald H.; Coleman, D. Jackson; Ketterling, Jeffrey A.; Lizzi, Frederic L.
Purpose: Harmonic imaging has become a well-established technique for ultrasonic imaging at fundamental frequencies of 10 MHz or less. Ophthalmology has benefited from the use of fundamentals of 20 MHz to 50 MHz. Our aim was to explore the ability to generate harmonics for this frequency range, and to generate harmonic images of the eye. Methods: The presence of harmonics was determined in both water and bovine vitreous propagation media by pulse/echo and hydrophone at a series of increasing excitation pulse intensities and frequencies. Hydrophone measurements were made at the focal point and in the near- and far-fields of 20 MHz and 40 MHz transducers. Harmonic images of the anterior segment of the rabbit eye were obtained by a combination of analog filtering and digital post-processing. Results: Harmonics were generated nearly identically in both water and vitreous. Hydrophone measurements showed the maximum second harmonic to be -5 dB relative to the 35 MHz fundamental at the focus, while in pulse/echo the maximum harmonic amplitude was -15dB relative to the fundamental. Harmonics were absent in the near-field, but present in the far-field. Harmonic images of the eye showed improved resolution. Conclusion: Harmonics can be readily generated at very high frequencies, and at power levels compliant with FDA guidelines for ophthalmology. This technique may yield further improvements to the already impressive resolutions obtainable in this frequency range. Improved imaging of the macular region, in particular, may provide significant improvements in diagnosis of retinal disease.
Eagles, Jeremy S.; Carlsen, Anthony N.
Movements that are executed or imagined activate a similar subset of cortical regions, but the extent to which this activity represents functionally equivalent neural processes is unclear. During preparation for an executed movement, presentation of a startling acoustic stimulus (SAS) evokes a premature release of the planned movement with the spatial and temporal features of the tasks essentially intact. If imagined movement incorporates the same preparatory processes as executed movement, then a SAS should release the planned movement during preparation. This hypothesis was tested using an instructed-delay cueing paradigm during which subjects were required to rapidly release a handheld weight while maintaining the posture of the arm or to perform first-person imagery of the same task while holding the weight. In a subset of trials, a SAS was presented at 1500, 500, or 200 ms prior to the release cue. Task-appropriate preparation during executed and imagined movements was confirmed by electroencephalographic recording of a contingent negative variation waveform. During preparation for executed movement, a SAS often resulted in premature release of the weight with the probability of release progressively increasing from 24 % at −1500 ms to 80 % at −200 ms. In contrast, the SAS rarely (movement. However, the SAS frequently evoked the planned postural response (suppression of bicep brachii muscle activity) irrespective of the task or timing of stimulation (even during periods of postural hold without preparation). These findings provide evidence that neural processes mediating the preparation and release of the focal motor task (release of the weight) are markedly attenuated or absent during imagined movement and that postural and focal components of the task are prepared independently. PMID:25744055
Raissaki, Maria; Perisinakis, Kostas; Damilakis, John; Gourtsoyiannis, Nicholas
CT scans of the brain, sinuses and petrous bones performed as the initial imaging test for a variety of indications have the potential to expose the eye-lens, considered among the most radiosensitive human tissues, to a radiation dose. There are several studies in adults discussing the reduction of orbital dose resulting from the use of commercially available bismuth-impregnated latex shields during CT examinations of the head. To evaluate bismuth shielding-induced artefacts and to provide suggestions for optimal eye-lens shielding in paediatric head CT. A bismuth shield was placed over the eyelids of 60 consecutive children undergoing head CT. Images were assessed for the presence and severity of artefacts with regard to eye-shield distance and shield wrinkling. An anthropomorphic paediatric phantom and thermoluminescence dosimeters (TLDs) were used to study the effect of eye lens-to-shield distance on shielding efficiency. Shields were tolerated by 56/60 children. Artefacts were absent in 45% of scans. Artefacts on orbits, not affecting and affecting orbit evaluation were noted in 39% and 14% of scans, respectively. Diagnostically insignificant artefacts on intracranial structures were noted in 1 case (2%) with shield misplacement. Mean eye-lens-to-shield distance was 8.8 mm in scans without artefacts, and 4.3 mm and 2.2 mm in scans with unimportant and diagnostically important artefacts, respectively. Artefacts occurred in 8 out of 9 cases with shield wrinkling. Dose reduction remained unchanged for different shield-to-eye distances. Bismuth shielding-related artefacts occurring in paediatric head CT are frequent, superficial and diagnostically insignificant when brain pathology is assessed. Shields should be placed 1 cm above the eyes when orbital pathology is addressed. Shield wrinkling should be avoided. (orig.)
Hirneiß, C; Kampik, A; Neubauer, A S
Eye diseases that are relevant regarding their macroeconomic costs and their impact on society include cataract, diabetic retinopathy, age-related maculopathy, glaucoma and refractive errors. The aim of this article is to provide a comprehensive overview of direct and indirect costs for major eye disease categories for Germany, based on existing literature and data sources. A semi-structured literature search was performed in the databases Medline and Embase and in the search machine Google for relevant original papers and reviews on costs of eye diseases with relevance for or transferability to Germany (last research date October 2013). In addition, manual searching was performed in important national databases and information sources, such as the Federal Office of Statistics and scientific societies. The direct costs for these diseases add up to approximately 2.6 billion Euros yearly for the Federal Republic of Germany, including out of the pocket payments from patients but excluding optical aids (e.g. glasses). In addition to those direct costs there are also indirect costs which are caused e.g. by loss of employment or productivity or by a reduction in health-related quality of life. These indirect costs can only be roughly estimated. Including the indirect costs for the eye diseases investigated, a total yearly macroeconomic cost ranging between 4 and 12 billion Euros is estimated for Germany. The costs for the eye diseases cataract, diabetic retinopathy, age-related maculopathy, glaucoma and refractive errors have a macroeconomic relevant dimension. Based on the predicted demographic changes with an ageing society an increase of the prevalence and thus also an increase of costs for eye diseases is expected in the future.
Turner , Jayson; Alexander , Jason; Bulling , Andreas; Schmidt , Dominik; Gellersen , Hans
Part 4: Gaze-Enabled Interaction Design; International audience; Previous work has validated the eyes and mobile input as a viable approach for pointing at, and selecting out of reach objects. This work presents Eye Pull, Eye Push, a novel interaction concept for content transfer between public and personal devices using gaze and touch. We present three techniques that enable this interaction: Eye Cut & Paste, Eye Drag & Drop, and Eye Summon & Cast. We outline and discuss several scenarios in...
Matías-Pérez, Diana; García-Montalvo, Iván Antonio; Zenteno, Juan Carlos
Congenital eye malformations are the second most common cause of childhood blindness and are originated by disruption of the normal process of eye development during embryonic stage. Their etiology is variable, although monogenic causes are of great importance as they have a high risk of familial recurrence. Included among the most severe congenital eye abnormalities are microphthalmia, defined by an abnormally small eye, and anophthalmia, characterized by congenital absence of ocular structures. The currrent knowledge of the genes involved in human microphthalmia and anophthalmia in humans is revised in this work. Copyright: © 2017 SecretarÍa de Salud.
Bertelsen, Geir; Peto, Tunde; Lindekleiv, Haakon
Purpose: To determine the prevalence of visual impairment, retinopathy and macular oedema, and assess risk factors for retinopathy in persons with diabetes. Methods: The present study included 514 participants with diabetes aged 46-87 years from the Tromsø Eye Study, a sub-study of the population......-based Tromsø Study in Norway. Visual acuity was measured using an auto-refractor. Retinal images from both eyes were graded for retinopathy and macular oedema. We collected data on risk factor exposure from self-report questionnaires, clinical examinations, laboratory measurements and case note reviews...
Durchschlag, H.; Fochler, C.; Abraham, K.; Kulawik, B.
The most important water-soluble components of the vertebrate eye (lens proteins, aqueous humor, vitreous, hyaluronic acid, ascorbic acid) have been investigated in aqueous solution, after preceding X- or UV-irradiation. Spectroscopic, chromatographic, electrophoretic, hydrodynamic and analytic techniques have been applied, to monitor several radiation damages such as destruction of aromatic and sulfur-containing amino acids, aggregation, crosslinking, dissociation, fragmentation, and partial unfolding. Various substances were found which were able to protect eye components effectively against radiation, some of them being also of medical relevance.
Koene, Ansgar Roald
The topic of this thesis is the investigation of the mechanical properties of the oculomotor system and the implications of these properties for eye movement control. The investigation was conducted by means of computer models and simulations. This allowed us to combine data from anatomy, physiology
Burke, David T; Meleger, Alec; Schneider, Jeffrey C; Snyder, Jim; Dorvlo, Atsu S S; Al-Adawi, Samir
This study tests the relation between eye-movements and thought processing. Subjects were given specific modality tasks (visual, gustatory, kinesthetic) and assessed on whether they responded with distinct eye-movements. Some subjects' eye-movements reflected ongoing thought processing. Instead of a universal pattern, as suggested by the neurolinguistic programming hypothesis, this study yielded subject-specific idiosyncratic eye-movements across all modalities. Included is a discussion of the neurolinguistic programming hypothesis regarding eye-movements and its implications for the eye-movement desensitization and reprocessing theory.
Full Text Available The eye of the fruit fly Drosophila melanogaster provides a highly tractable genetic model system for the study of animal development, and many genes that regulate Drosophila eye formation have homologs implicated in human development and disease. Among these is the homeobox gene sine oculis (so, which encodes a homeodomain transcription factor (TF that is both necessary for eye development and sufficient to reprogram a subset of cells outside the normal eye field toward an eye fate. We have performed a genome-wide analysis of So binding to DNA prepared from developing Drosophila eye tissue in order to identify candidate direct targets of So-mediated transcriptional regulation, as described in our recent article . The data are available from NCBI Gene Expression Omnibus (GEO with the accession number GSE52943. Here we describe the methods, data analysis, and quality control of our So ChIP-seq dataset.
Henry G Kaplan
Full Text Available Henry G Kaplan1, Judith A Malmgren2,3, Mary Atwood1, Lynn C Goldstein41Swedish Cancer Institute at Swedish Medical Center, Seattle, Washington, USA; 2HealthStat Consulting Inc., Seattle, Washington, USA; 3School of Public Health and Community Medicine, Department of Epidemiology, University of Washington, Seattle, Washington, USA; 4PhenoPath Laboratories, Seattle, Washington, USAPurpose: Human epidermal growth factor receptor 2 (HER2/neu, topoisomerase II alpha (TOP2A, and polysomy 17 may predict tumor responsiveness to doxorubicin (DOX therapy.Methods: We identified neoadjuvant DOX/cyclophosphamide treated breast cancer patients in our registry from 1997 to 2008 with sufficient tissue for testing (n = 34. Fluorescence in situ hybridization (FISH testing was done on deparaffinized tissue sections pretreated using vendor’s standard protocol modification, and incubated with US Food and Drug Administration approved Abbott Diagnostics Vysis PathVysion™ probe set, including Spectrum-Green-conjugated probe to a-satellite DNA located at the centromere of chromosome 17 (17p11.1–q11.1 and a Spectrum-Orange-conjugated probe to the TOP2A gene. Morphometric analysis was performed using a MetaSystems image analysis system. Manual counting was performed on all samples in which autofluorescence and/or artifact prevented the counting of sufficient numbers of cells. A ratio >2.0 was considered positive for TOP2A amplification. Polysomy 17 (PS17 presence was defined as signals of ≥2.5. Outcomes were pathological complete response (pCR, partial response (PR, and nonresponse (NR.Results: Of 34 patients tested, one was TOP2A amplified (hormone receptor negative/HER2 negative, partial responder. The subset of TOP2A nonamplified, HER2 negative, and PS17 absent (n = 23 patients had treatment response: pCR = 2 (9%, PR = 14 (61%, and NR = 7 (30%. Including the two PS17 present and HER2-positive patients (n = 33, 76% of TOP2A nonamplified patients had pCR or PR
Foulsham, Tom; Underwood, Geoffrey
While visual saliency may sometimes capture attention, the guidance of eye movements in search is often dominated by knowledge of the target. How is the search for an object influenced by the saliency of an adjacent distractor? Participants searched for a target amongst an array of objects, with distractor saliency having an effect on response time and on the speed at which targets were found. Saliency did not predict the order in which objects in target-absent trials were fixated. The within-target landing position was distributed around a modal position close to the centre of the object. Saliency did not affect this position, the latency of the initial saccade, or the likelihood of the distractor being fixated, suggesting that saliency affects the allocation of covert attention and not just eye movements.
Full Text Available Savitha Nadig1, Nithya Velusamy2, Prajna Lalitha2, Sarita Kar3, Savitri Sharma3, Gayathri Arakere11Society for Innovation and Development, Indian Institute of Science, Bengaluru, Karnataka, 2Aravind Eye Hospital, Madurai, Tamil Nadu, 3LV Prasad Eye Institute, Bhubaneswar, Odisha, IndiaPurpose: The purpose of this study was to perform molecular characterization of Staphylococcus aureus isolates causing a variety of eye infections from two major eye care hospitals in India.Methods: Twenty-four isolates from Aravind Eye Hospital, Madurai, India, and nine isolates from LV Prasad Eye Institute, Bhubaneswar, India, representing severe to nonsevere eye infections like microbial keratitis to lacrimal sac abscess, were characterized. Staphylococcal cassette chromosome mec typing, multilocus sequence typing, accessory gene regulator typing, staphylococcal protein A typing, and pulsed field gel electrophoresis were used, along with determination of the presence of Panton–Valentine leucocidin toxin and endotoxin gene cluster among each sequence type.Results: The majority of eye infections, both severe and nonsevere, were caused by sequence type (ST772, positive for the Panton–Valentine leucocidin gene, and carrying methicillin-resistant staphylococcal cassette chromosome mec type V cassette (22/33, 67%. Some of the other sequence types that caused severe eye infections were ST1 (9%, 5 (3%, 72 (6%, 88 (3%, 121 (3%, and 672 (3%. This is the first report of the presence of ST1 and 88 in India.Conclusion: Although the number of isolates included in this study was small, most of the eye infections were caused by community-associated S. aureus where patients had no history of hospitalization or treatment in the past year. In the case of six severe infections, patients were admitted for surgeries and there is probability of hospital infection. In addition, only methicillin-resistant S. aureus isolates carrying staphylococcal cassette chromosome mec type V were
Ye, XC; Pegado, V; Patel, MS; Wasserman, WW
Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing to non-syndromic strabismus remain elusive. Genetic testing for strabismus risk may allow for earlier diagnosis and treatment, as well as decreased frequency of surgery. We review human and model organism literature describing non-syndromic strabismus, including family, twin, linkage, and gene expression studies. Recent advances in the genetics of Duane retraction syndrome are considered, as relatives of those impacted show elevated familial rates of non-syndromic strabismus. As whole genome sequencing efforts are advancing for the discovery of the elusive strabismus genes, this overview is intended to support the interpretation of the new findings. PMID:24579652
Full Text Available Eye injuries often occur in the workplace in low and middle-income countries, particularly in the construction, agricultural, mining, and manufacturing industries. Even if there are safety regulations in these industries, their enforcement is often unsatisfactory, and owners are not required to provide safety equipment.
Taylor, G.N.; Lloyd, R.D.; Shabestari, Lorraine; Angus, Walter; Muggenburg, B.A.
This report presents some features of the radium induced eye syndrome observed in beagles, including the prominence of intraocular pigmentary lesions and compares these with the results of rodent studies (Onychomys leucogaster) featuring a heavily pigmented uvea, and with the radiation syndrome reported in humans. (author)
Vester-Christensen, Martin; Leimberg, Denis; Ersbøll, Bjarne Kjær
A deformable template method for eye tracking on full face images is presented. The strengths of the method are that it is fast and retains accuracy independently of the resolution. We compare the me\\$\\backslash\\$-thod with a state of the art active contour approach, showing that the heuristic...
Havinga, Paul J.M.; Etalle, Sandro; Karl, Holger; Petrioli, Chiara; Zorzi, Michele; Kip, Harry; Lentsch, Thomas; Conti, M.; Giordano, S.; Gregori, E.; Olariu, S.
The EYES project (IST-2001-34734) is a three years European research project on self-organizing and collaborative energy-efficient sensor networks. It will address the convergence of distributed information processing, wireless communications, and mobile computing. The goal of the project is to
Full Text Available Eye care services are people intensive. They require the right people (competence, in the right numbers (capacity, in the right mix (team with the right resources and processes (enabling conditions to ensure effective and sustainable delivery of patient care.
... Vea esta página en español The Basics of LASIK Eye Surgery Share This Page Facebook Twitter Linked- ... Surgery Surgical Alternatives to LASIK For More Information LASIK Basics If you wear glasses or contact lenses, ...
WHEN SCIENCE CATCHES THE EYE · Slide 2 · Slide 3 · Slide 4 · Concept Overview · Slide 6 · Slide 7 · Slide 8 · Accommodation: Biomechanics · Accommodative IOL: Crystalens · Slide 11 · Enhanced Single Optic Designs · A Dual Optic Accommodating IOL · Slide 14 · A-IOL Implantation being done by Dr. Virender ...
Havinga, Paul J.M.; Evers, L.; Wu Jian, W.J.; Karl, H.; Kopke, A.; Handziski, V.; Zorzi, M.
The EYES project (IST-2001-34734) is a three years European research project on self-organizing and collaborative energy-efficient sensor networks. It addresses the convergence of distributed information processing, wireless communications, and mobile computing. The goal of the project is to develop
Durchschlag, H.; Fochler, C.; Abraham, K.; Kulawik, B.
The radiation damage (X-ray, UV light) of the most important components of the vertebrate eye (crystallins and other proteins, hyaluronic acid, vitreous, aqueous humour, ascorbic acid) has been investigated by various methods of physical chemistry. UV absorption and fluorescence spectroscopy as well as circular dichroism unveiled changes of the chromophores/fluorophores of the constituent biopolymers and low-molecular components, together with alterations of helix content and the occurrence of aggregation. Size-exclusion chromatography, analytical ultracentrifugation, densimetry, viscometry and light scattering experiments monitored changes of the global structure of proteins and polysaccharides involved. Electrophoreses allowed conclusions on fragmentation, unfolding and crosslinking. Analytical methods provided information regarding the integrity of groups of special concern (SH, SS) and revealed the existence of stable noxious species (H 2 O 2 ). By means of various measures and additives, manifold modifications of the impact of both ionizing and nonionizing radiation may be achieved. Caused by differences in the primary reactions, eye polymers are protected efficaciously by typical OH radical scavengers against X-irradiation, whereas compounds which exhibit absorption behavior in the UV range turn out to act as potent protectives ('chemical filters') against UV light. A few substances, such as ascorbate, are able to provide protection against both sorts of radiation and are even able to exhibit a slight chemical repair of already damaged particles. The results obtained are of importance for understanding pathological alterations of the eye (loss of transparency, cataractogenesis) and for developing new strategies for protection and repair of eye components. (author)
Panadero-Fontán, Rosario; Otranto, Domenico
Ocular infestations by arthropods consist in the parasitization of the human eye, either directly (e.g., some insect larvae causing ophthalmomyiasis) or via arthropods feeding on lachrymal/conjunctival secretions (e.g., some eye-seeking insects, which also act as vectors of eye pathogens). In addition, demodicosis and phthiriasis may also cause eye discomfort in humans. Ophthalmomyiasis by larvae of the families Oestridae, Calliphoridae and Sarcophagidae, are frequent causative agents of human ocular infestations. Over the last decades, the extensive use of macrocyclic lactones in cattle has reduced the frequency of infestations by Hypoderma bovis and Hypoderma lineatum (family Oestridae), and consequently, human infestations by these species. A prompt diagnosis of ocular myiasis (e.g., by serological tests) is pivotal for positive prognoses, particularly when the larvae are not detectable during the ophthalmologic examination. Molecular diagnoses may also assist physicians and parasitologists in achieving time-efficient diagnoses of infestations by Oestridae causing myiasis. Finally, due to widespread international travel to exotic destinations, cases of myiasis are increasing in non-endemic areas, therefore requiring physicians to acquire a profound knowledge of the clinical symptoms linked to these infestations to prevent costly, inappropriate treatments or severe complications. Copyright © 2014 Elsevier B.V. All rights reserved.
Full Text Available Dorota Raczyńska, Leopold Glasner, Ewelina Serkies-Minuth, Magdalena A Wujtewicz, Kamila Mitrosz Department of Ophthalmology, Medical University of Gdansk, Gdansk, Poland Abstract: Extending life expectancy is a human achievement. It does however entail problems. Ophthalmic treatments are widely recognized as having a low risk of general complications. A classic example is cataract surgery, considered to be one of the safest and most frequently performed surgical procedures in the world. However, advanced age brings with it risks that should be considered before surgery. Eye operations, as with procedures on other organs, are largely dependent on the quality of surgical tissues. Therefore, the elderly are at increased risk of complications. Improved general health and postoperative follow-up with the use of noninvasive technologies such as optical coherence tomography translate into lower intraoperative risk and better postoperative prognosis. In this review, we discuss the impact of general health on operational prognosis, therapeutic problems, and technical difficulties which a surgeon and anesthesiologist may encounter in the process. We also consider new technology and strategies specifically aimed at treating eye conditions in the elderly. Keywords: eye surgery, eye aging, anesthesiology in ophthalmology, cataract, glaucoma, vitrectomy, age-related macular degeneration
Roč. 60, č. 7 (2015), s. 345-350 ISSN 0375-8427 R&D Projects: GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : hereditary * eye * disease * dog Subject RIV: GJ - Animal Vermins ; Diseases, Veterinary Medicine Impact factor: 0.560, year: 2015
Full Text Available One of the conspicuous features of the twentieth-century West was silence. This idea could be supported by examining reflections of Ludwig Wittgenstein, Fritz Mauthner, John Cage, Samuel Beckett, Ihab Hassan, Franz Kafka, Wassily Kandinsky, Jean-Paul Sartre, Virginia Woolf, Wolfgang Iser, Jacques Derrida, and Pierre Macherey. To me, silence is not a mere theory, but rather a phenomenon from which we can get practical benefits. I believe silence is an eye, eye of knowledge. We can broaden our knowledge of the world through silence. To convey the idea that silence is an eye, I have concocted the word slence, where has replaced the letter i and stands for the eye. This means knowledge can enable us to see, thereby acquiring knowledge of, what used to be invisible, and accordingly unknowable. In other words, through silence, we can achieve a certain type of literacy. I substantiate this claim by exploring the Horus myth, Ojo de Dios, John Cage’s 4' 33", the nature of Expressionist paintings, Hinduism, thoughts of Hermes Trismegistus and Ibn al-Arabi, and practices of Mohammad, the prophet of Islam.
This thesis describes the involvement of the eye in haematological malignancies and focuses on two topics; primary vitreoretinal lymphoma (PVRL) and ocular Graft-versus-Host Disease (GvHD). The aim of this thesis is first: to compare the efficacy of diverse treatment options of PVRL with regard to
Full Text Available Corneal transplantation has been in routine practice to treat corneal endothelial diseases like Bullous Keratopathy, in which either the whole cornea or the partial cornea (the endothelium alone is transplanted from the cadaver donor to the recipient with the endothelial disease . In whole corneal or partial corneal transplant one cadaver donor's cornea can be used to treat one recipient cornea only, which leads to a huge global shortage of donor corneas . At this juncture Yokoo et al isolated and expanded corneal endothelial precursors using the sphere forming assay in vitro  and demonstrated the in vivo transplantation of these corneal endothelial precursors in a rabbit model of bullous keratopathy . Following this, we studied the transportation of cadaver donor derived corneal endothelial tissue (CET from human cadaver donors in a thermoreversible gelation polymer (TGP (4 based transportation cocktail without cool preservation and demonstrated the viability of human corneal endothelial precursor (HCEP cells isolated from these CETs even after 72 hours of transportation without cool preservation . This was done to suit the conditions existing in developing nations like India where hospitals might be located far from eye banks and maintaining cold chain preservation is relatively difficult. Further, these HCEPs were expanded in vitro using a polymer based expansion protocol . This was the first step in the realisation of the dream of 'Eye for eyes' in a manner suitable for Indian conditions. Corneal transplantation has been in routine practice to treat corneal endothelial diseases like Bullous Keratopathy, in which either the whole cornea or the partial cornea (the endothelium alone is transplanted from the cadaver donor to the recipient with the endothelial disease . In whole corneal or partial corneal transplant one cadaver donor's cornea can be used to treat one recipient cornea only, which leads to a huge global
Sepulveda, W; Wong, A E; Viñals, F; Andreeva, E; Adzehova, N; Martinez-Ten, P
To describe a new ultrasound technique that may be useful for the diagnosis of micrognathia in the first trimester of pregnancy. The retronasal triangle (RNT) view is a technique that captures the coronal plane of the face in which the primary palate and the frontal processes of the maxilla are visualized simultaneously. Normal first-trimester fetuses display a characteristic gap between the right and left body of the mandible in this view (the 'mandibular gap'). The presence or absence of this gap was evaluated and measured prospectively during real-time scanning (n = 154) and retrospectively by analyzing three-dimensional (3D) datasets (n = 50) in normal first-trimester fetuses undergoing screening for aneuploidy at 11-13 weeks' gestation. 3D datasets from 12 fetuses with suspected micrognathia were also collected and examined retrospectively for the same features. The mandibular gap was identified in all 204 normal fetuses and increased linearly with increasing crown-rump length (y = 0.033x + 0.435; R(2) = 0.316), with no statistically significant differences between measurements obtained by two-dimensional ultrasound and 3D offline analysis. Among fetuses with suspected micrognathia, three 3D datasets were excluded from analysis because of poor image quality in one and the diagnosis of a normal chin in two. In the remaining nine fetuses, the mandibular gap was absent and was replaced by a bony structure representing the receding chin in seven (77.8%) cases and was not visualized due to severe retrognathia in the remaining two (22.2%) cases. All fetuses with micrognathia had associated anomalies, including seven with aneuploidy and two with skeletal dysplasia. The RNT view may be a helpful technique for detecting micrognathia in the first trimester. The absence of the mandibular gap or failure to identify the mandible in this view is highly suggestive of micrognathia and should prompt a targeted ultrasound scan to assess for other anomalies. Further research is
Tran, Thuy Linh; Bek, Toke; Cour, Morten la
Aquaporins (AQP) are channels in the cell membrane that mainly facilitate a passive transport of water. In the eye, AQPs are expressed in the ciliary body and retina and may contribute to the pathogenesis of glaucoma and optic neuropathy. We investigated the expression of AQP1, AQP3, AQP4, AQP5......, AQP7 and AQP9 in human glaucoma eyes compared with normal eyes. Nine glaucoma eyes were examined. Of these, three eyes were diagnosed with primary open angle glaucoma; three eyes had neovascular glaucoma; and three eyes had chronic angle-closure glaucoma. Six eyes with normal intraocular pressure...... and without glaucoma were used as control. Immunohistochemistry was performed using antibodies against AQP1, AQP3, AQP4, AQP5, AQP7 and AQP9. For each specimen, optical densities of immunoprecipitates were measured using Photoshop and the staining intensities were calculated. Immunostaining showed labelling...
Rheumatoid arthritis: Can it affect the eyes? Can rheumatoid arthritis affect the eyes? Answers from April Chang-Miller, M.D. Rheumatoid arthritis is a chronic inflammatory disease that primarily affects the ...
Christophersen, Mogens Teken
Transpalpebral eye enucleation in the standing horse. The Nordic Equine Veterinary Conference, Proceedings, Copenhagen. Denmark. Nov. 2011.......Transpalpebral eye enucleation in the standing horse. The Nordic Equine Veterinary Conference, Proceedings, Copenhagen. Denmark. Nov. 2011....
... Battery Safety Facts (Prevent Blindness America) - PDF Eye Health in Sports and Recreation (American Academy of Ophthalmology) Also in Spanish Eye Safety at Work (Prevent Blindness America) Four Fantastic Foods to Keep ...
Full Text Available BACKGROUND According to the National Eye Institute, dry eye is a condition in which the eye does not produce tears properly. It can also involve tears not having the right consistency or evaporating too quickly. Tears are necessary to help maintain moisture on the surface of the eye and for clear vision. Diabetes is often associated with several significant ocular conditions such as retinopathy, refractive changes, cataracts, glaucoma and macular oedema. However, one of the most common ocular complications associated with diabetes is dry eye. The aim of the study is to study the prevalence of dry eyes in diabetes mellitus and to evaluate ocular and other risk factors relevant to diabetic dry eyes. MATERIALS AND METHODS A hospital-based cross-sectional clinical study of 100 diabetic patients who presented to the Department of Ophthalmology, Santosh Medical College and Hospital, Ghaziabad, between January 2016 to June 2017 was conducted. Detailed diabetic history was recorded. Assessment of anterior segment via slit-lamp biomicroscopy was done. The examinations for dry eyes included Schirmer's test, tear breakup time, fluorescein and rose Bengal staining. RESULTS Sixty two (62% diabetic patients had dry eye. The prevalence in type I was 3% and prevalence in type II was 59%. Dry eye prevalence was maximum in those above 40 years of age. Symptoms like reduced corneal sensation (44% and meibomitis (20% were major attributable risk factors. Ocular surface damage was predominantly superficial punctate keratitis. Retinopathy was not statistically associated with the prevalence of dry eyes. CONCLUSION Diabetes and dry eye appears to be a common association. Reduction in the modifiable risk factors of dry eye is essential to reduce its prevalence. No significant statistical correlation was found between retinopathy and dry eyes. However, examination for dry eyes should be an integral part of the assessment of diabetic eye disease.
Saleh A. Al-Akily; Mutahar Y. Al-Shaer; Mahfouth A. Bamashmus; Abdulmoghni O. Al-Barrag; Tawfik K. Alkhatib; Hisham A. Al-Akhlee
Purpose: The objective of this study was to undertake an analysis of the eye care services situation in Yemen and to assess ophthalmic human resources, eye units’ ownership and ophthalmic equipments. Methods: Eye care providers were surveyed by a standardized questionnaire which was sent to the 184 eye units in governmental, university, military, private and charity clinics and hospitals in Yemen and covered the period between 01 January to 31 December 2012. The questionnaire determined l...
Full Text Available Masakazu Yamada, Yoshinobu Mizuno, Chika ShigeyasuNational Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, JapanBackground: The purpose of this study was to evaluate the impact of dry eye on work productivity of office workers, especially in terms of presenteeism.Methods: A total of 396 individuals aged ≥20 years (258 men and 138 women, mean age 43.4 ± 13.0 years were recruited through an online survey. Data from 355 responders who did not have missing values were included in the analysis. They were classified into the following four groups according to the diagnostic status and subjective symptoms of dry eye: a definite dry eye group; a marginal dry eye group; a self-reported dry eye group; and a control group. The impact of dry eye on work productivity was evaluated using the Japanese version of the Work Limitations Questionnaire. The cost of work productivity loss associated with dry eye and the economic benefits of providing treatment for dry eye were also assessed.Results: The degree of work performance loss was 5.65% in the definite dry eye group, 4.37% in the marginal dry eye group, 6.06% in the self-reported dry eye group, and 4.27% in the control group. Productivity in the self-reported dry eye group was significantly lower than that in the control group (P < 0.05. The annual cost of work productivity loss associated with dry eye was estimated to be USD 741 per person.Conclusion: Dry eye impairs work performance among office workers, which may lead to a substantial loss to industry. Management of symptoms of dry eye by providing treatment may contribute to improvement in work productivity.Keywords: burden of disease, dry eye, presenteeism, quality of life
Call, Gerald B.; Olson, John M.; Chen, Jiong; Villarasa, Nikki; Ngo, Kathy T.; Yabroff, Allison M.; Cokus, Shawn; Pellegrini, Matteo; Bibikova, Elena; Bui, Chris; Cespedes, Albert; Chan, Cheryl; Chan, Stacy; Cheema, Amrita K.; Chhabra, Akanksha; Chitsazzadeh, Vida; Do, Minh-Tu; Fang, Q. Angela; Folick, Andrew; Goodstein, Gelsey L.; Huang, Cheng R.; Hung, Tony; Kim, Eunha; Kim, William; Kim, Yulee; Kohan, Emil; Kuoy, Edward; Kwak, Robert; Lee, Eric; Lee, JiEun; Lin, Henry; Liu, H-C. Angela; Moroz, Tatiana; Prasad, Tharani; Prashad, Sacha L.; Patananan, Alexander N.; Rangel, Alma; Rosselli, Desiree; Sidhu, Sohrab; Sitz, Daniel; Taber, Chelsea E.; Tan, Jingwen; Topp, Kasey; Tran, PhuongThao; Tran, Quynh-Minh; Unkovic, Mary; Wells, Maggie; Wickland, Jessica; Yackle, Kevin; Yavari, Amir; Zaretsky, Jesse M.; Allen, Christopher M.; Alli, Latifat; An, Ju; Anwar, Abbas; Arevalo, Sonia; Ayoub, Danny; Badal, Shawn S.; Baghdanian, Armonde; Baghdanian, Arthur H.; Baumann, Sara A.; Becerra, Vivian N.; Chan, Hei J.; Chang, Aileen E.; Cheng, Xibin A.; Chin, Mabel; Chong, Fleurette; Crisostomo, Carlyn; Datta, Sanjit; Delosreyes, Angela; Diep, Francie; Ekanayake, Preethika; Engeln, Mark; Evers, Elizabeth; Farshidi, Farzin; Fischer, Katrina; Formanes, Arlene J.; Gong, Jun; Gupta, Riju; Haas, Blake E.; Hahm, Vicky; Hsieh, Michael; Hui, James Z.; Iao, Mei L.; Jin, Sophia D.; Kim, Angela Y.; Kim, Lydia S-H.; King, Megan; Knudsen-Robbins, Chloe; Kohanchi, David; Kovshilovskaya, Bogdana; Ku, Amy; Kung, Raymond W.; Landig, Mark E. L.; Latterman, Stephanie S.; Lauw, Stephanie S.; Lee, Daniel S.; Lee, Joann S.; Lei, Kai C.; Leung, Lesley L.; Lerner, Renata; Lin, Jian-ya; Lin, Kathleen; Lim, Bryon C.; Lui, Crystal P. Y.; Liu, Tiffany Q.; Luong, Vincent; Makshanoff, Jacob; Mei, An-Chi; Meza, Miguel; Mikhaeil, Yara A.; Moarefi, Majid; Nguyen, Long H.; Pai, Shekhar S.; Pandya, Manish; Patel, Aadit R.; Picard, Paul D.; Safaee, Michael M.; Salame, Carol; Sanchez, Christian; Sanchez, Nina; Seifert, Christina C.; Shah, Abhishek; Shilgevorkyan, Oganes H.; Singh, Inderroop; Soma, Vanessa; Song, Junia J.; Srivastava, Neetika; Sta.Ana, Jennifer L.; Sun, Christie; Tan, Diane; Teruya, Alison S.; Tikia, Robyn; Tran, Trinh; Travis, Emily G.; Trinh, Jennifer D.; Vo, Diane; Walsh, Thomas; Wong, Regan S.; Wu, Katherine; Wu, Ya-Whey; Yang, Nkau X. V.; Yeranosian, Michael; Yu, James S.; Zhou, Jennifer J.; Zhu, Ran X.; Abrams, Anna; Abramson, Amanda; Amado, Latiffe; Anderson, Jenny; Bashour, Keenan; Beyer, Elsa; Bookatz, Allen; Brewer, Sarah; Buu, Natalie; Calvillo, Stephanie; Cao, Joseph; Chan, Amy; Chan, Jenny; Chang, Aileen; Chang, Daniel; Chang, Yuli; Chen, YiBing; Choi, Joo; Chou, Jeyling; Dang, Peter; Datta, Sumit; Davarifar, Ardy; Deravanesian, Artemis; Desai, Poonam; Fabrikant, Jordan; Farnad, Shahbaz; Fu, Katherine; Garcia, Eddie; Garrone, Nick; Gasparyan, Srpouhi; Gayda, Phyllis; Go, Sherrylene; Goffstein, Chad; Gonzalez, Courtney; Guirguis, Mariam; Hassid, Ryan; Hermogeno, Brenda; Hong, Julie; Hong, Aria; Hovestreydt, Lindsay; Hu, Charles; Huff, Devon; Jamshidian, Farid; Jen, James; Kahen, Katrin; Kao, Linda; Kelley, Melissa; Kho, Thomas; Kim, Yein; Kim, Sarah; Kirkpatrick, Brian; Langenbacher, Adam; Laxamana, Santino; Lee, Janet; Lee, Chris; Lee, So-Youn; Lee, ToHang S.; Lee, Toni; Lewis, Gemma; Lezcano, Sheila; Lin, Peter; Luu, Thanh; Luu, Julie; Marrs, Will; Marsh, Erin; Marshall, Jamie; Min, Sarah; Minasian, Tanya; Minye, Helena; Misra, Amit; Morimoto, Miles; Moshfegh, Yasaman; Murray, Jessica; Nguyen, Kha; Nguyen, Cynthia; Nodado, Ernesto; O'Donahue, Amanda; Onugha, Ndidi; Orjiakor, Nneka; Padhiar, Bhavin; Paul, Eric; Pavel-Dinu, Mara; Pavlenko, Alex; Paz, Edwin; Phaklides, Sarah; Pham, Lephong; Poulose, Preethi; Powell, Russell; Pusic, Aya; Ramola, Divi; Regalia, Kirsten; Ribbens, Meghann; Rifai, Bassel; Saakyan, Manyak; Saarikoski, Pamela; Segura, Miriam; Shadpour, Farnaz; Shemmassian, Aram; Singh, Ramnik; Singh, Vivek; Skinner, Emily; Solomin, Daniel; Soneji, Kosha; Spivey, Kristin; Stageberg, Erika; Stavchanskiy, Marina; Tekchandani, Leena; Thai, Leo; Thiyanaratnam, Jayantha; Tong, Maurine; Toor, Aneet; Tovar, Steve; Trangsrud, Kelly; Tsang, Wah-Yung; Uemura, Marc; Vollmer, Emily; Weiss, Emily; Wood, Damien; Wu, Joy; Wu, Sophia; Wu, Winston; Xu, Qing; Yamauchi, Yuki; Yarosh, Will; Yee, Laura; Yen, George; Banerjee, Utpal
Using a large consortium of undergraduate students in an organized program at the University of California, Los Angeles (UCLA), we have undertaken a functional genomic screen in the Drosophila eye. In addition to the educational value of discovery-based learning, this article presents the first comprehensive genomewide analysis of essential genes involved in eye development. The data reveal the surprising result that the X chromosome has almost twice the frequency of essential genes involved in eye development as that found on the autosomes. PMID:17720911
Call, Gerald B; Olson, John M; Chen, Jiong; Villarasa, Nikki; Ngo, Kathy T; Yabroff, Allison M; Cokus, Shawn; Pellegrini, Matteo; Bibikova, Elena; Bui, Chris; Cespedes, Albert; Chan, Cheryl; Chan, Stacy; Cheema, Amrita K; Chhabra, Akanksha; Chitsazzadeh, Vida; Do, Minh-Tu; Fang, Q Angela; Folick, Andrew; Goodstein, Gelsey L; Huang, Cheng R; Hung, Tony; Kim, Eunha; Kim, William; Kim, Yulee; Kohan, Emil; Kuoy, Edward; Kwak, Robert; Lee, Eric; Lee, JiEun; Lin, Henry; Liu, H-C Angela; Moroz, Tatiana; Prasad, Tharani; Prashad, Sacha L; Patananan, Alexander N; Rangel, Alma; Rosselli, Desiree; Sidhu, Sohrab; Sitz, Daniel; Taber, Chelsea E; Tan, Jingwen; Topp, Kasey; Tran, PhuongThao; Tran, Quynh-Minh; Unkovic, Mary; Wells, Maggie; Wickland, Jessica; Yackle, Kevin; Yavari, Amir; Zaretsky, Jesse M; Allen, Christopher M; Alli, Latifat; An, Ju; Anwar, Abbas; Arevalo, Sonia; Ayoub, Danny; Badal, Shawn S; Baghdanian, Armonde; Baghdanian, Arthur H; Baumann, Sara A; Becerra, Vivian N; Chan, Hei J; Chang, Aileen E; Cheng, Xibin A; Chin, Mabel; Chong, Fleurette; Crisostomo, Carlyn; Datta, Sanjit; Delosreyes, Angela; Diep, Francie; Ekanayake, Preethika; Engeln, Mark; Evers, Elizabeth; Farshidi, Farzin; Fischer, Katrina; Formanes, Arlene J; Gong, Jun; Gupta, Riju; Haas, Blake E; Hahm, Vicky; Hsieh, Michael; Hui, James Z; Iao, Mei L; Jin, Sophia D; Kim, Angela Y; Kim, Lydia S-H; King, Megan; Knudsen-Robbins, Chloe; Kohanchi, David; Kovshilovskaya, Bogdana; Ku, Amy; Kung, Raymond W; Landig, Mark E L; Latterman, Stephanie S; Lauw, Stephanie S; Lee, Daniel S; Lee, Joann S; Lei, Kai C; Leung, Lesley L; Lerner, Renata; Lin, Jian-ya; Lin, Kathleen; Lim, Bryon C; Lui, Crystal P Y; Liu, Tiffany Q; Luong, Vincent; Makshanoff, Jacob; Mei, An-Chi; Meza, Miguel; Mikhaeil, Yara A; Moarefi, Majid; Nguyen, Long H; Pai, Shekhar S; Pandya, Manish; Patel, Aadit R; Picard, Paul D; Safaee, Michael M; Salame, Carol; Sanchez, Christian; Sanchez, Nina; Seifert, Christina C; Shah, Abhishek; Shilgevorkyan, Oganes H; Singh, Inderroop; Soma, Vanessa; Song, Junia J; Srivastava, Neetika; StaAna, Jennifer L; Sun, Christie; Tan, Diane; Teruya, Alison S; Tikia, Robyn; Tran, Trinh; Travis, Emily G; Trinh, Jennifer D; Vo, Diane; Walsh, Thomas; Wong, Regan S; Wu, Katherine; Wu, Ya-Whey; Yang, Nkau X V; Yeranosian, Michael; Yu, James S; Zhou, Jennifer J; Zhu, Ran X; Abrams, Anna; Abramson, Amanda; Amado, Latiffe; Anderson, Jenny; Bashour, Keenan; Beyer, Elsa; Bookatz, Allen; Brewer, Sarah; Buu, Natalie; Calvillo, Stephanie; Cao, Joseph; Chan, Amy; Chan, Jenny; Chang, Aileen; Chang, Daniel; Chang, Yuli; Chen, YiBing; Choi, Joo; Chou, Jeyling; Dang, Peter; Datta, Sumit; Davarifar, Ardy; Deravanesian, Artemis; Desai, Poonam; Fabrikant, Jordan; Farnad, Shahbaz; Fu, Katherine; Garcia, Eddie; Garrone, Nick; Gasparyan, Srpouhi; Gayda, Phyllis; Go, Sherrylene; Goffstein, Chad; Gonzalez, Courtney; Guirguis, Mariam; Hassid, Ryan; Hermogeno, Brenda; Hong, Julie; Hong, Aria; Hovestreydt, Lindsay; Hu, Charles; Huff, Devon; Jamshidian, Farid; Jen, James; Kahen, Katrin; Kao, Linda; Kelley, Melissa; Kho, Thomas; Kim, Yein; Kim, Sarah; Kirkpatrick, Brian; Langenbacher, Adam; Laxamana, Santino; Lee, Janet; Lee, Chris; Lee, So-Youn; Lee, ToHang S; Lee, Toni; Lewis, Gemma; Lezcano, Sheila; Lin, Peter; Luu, Thanh; Luu, Julie; Marrs, Will; Marsh, Erin; Marshall, Jamie; Min, Sarah; Minasian, Tanya; Minye, Helena; Misra, Amit; Morimoto, Miles; Moshfegh, Yasaman; Murray, Jessica; Nguyen, Kha; Nguyen, Cynthia; Nodado, Ernesto; O'Donahue, Amanda; Onugha, Ndidi; Orjiakor, Nneka; Padhiar, Bhavin; Paul, Eric; Pavel-Dinu, Mara; Pavlenko, Alex; Paz, Edwin; Phaklides, Sarah; Pham, Lephong; Poulose, Preethi; Powell, Russell; Pusic, Aya; Ramola, Divi; Regalia, Kirsten; Ribbens, Meghann; Rifai, Bassel; Saakyan, Manyak; Saarikoski, Pamela; Segura, Miriam; Shadpour, Farnaz; Shemmassian, Aram; Singh, Ramnik; Singh, Vivek; Skinner, Emily; Solomin, Daniel; Soneji, Kosha; Spivey, Kristin; Stageberg, Erika; Stavchanskiy, Marina; Tekchandani, Leena; Thai, Leo; Thiyanaratnam, Jayantha; Tong, Maurine; Toor, Aneet; Tovar, Steve; Trangsrud, Kelly; Tsang, Wah-Yung; Uemura, Marc; Vollmer, Emily; Weiss, Emily; Wood, Damien; Wu, Joy; Wu, Sophia; Wu, Winston; Xu, Qing; Yamauchi, Yuki; Yarosh, Will; Yee, Laura; Yen, George; Banerjee, Utpal
Using a large consortium of undergraduate students in an organized program at the University of California, Los Angeles (UCLA), we have undertaken a functional genomic screen in the Drosophila eye. In addition to the educational value of discovery-based learning, this article presents the first comprehensive genomewide analysis of essential genes involved in eye development. The data reveal the surprising result that the X chromosome has almost twice the frequency of essential genes involved in eye development as that found on the autosomes.
Nieuwenhuijsen, K.; Boer, A.G.E.M. de; Verbeek, J.H.A.M.; Blonk, R.W.B.; Dijk, F.J.H. van
Aims: To (1) evaluate the psychometric properties and (2) examine the ability to detect cases with anxiety disorder and depression in a population of employees absent from work because of mental health problems. Methods: Internal consistency, construct validity, and criterion validity of the
Buijs, P.; Heuvel, F.D. van; Steenbeek, R.
Background Employees absent from work through sickness often have contact with their GP and their occupational physician (OP). Little is as yet known about what they think of such contacts. We studied the employees' experience with and their opinions about these doctors. Method Unemployment services
Nieuwenhuijsen, K.; de Boer, A. G. E. M.; Verbeek, J. H. A. M.; Blonk, R. W. B.; van Dijk, F. J. H.
Aims: To (1) evaluate the psychometric properties and (2) examine the ability to detect cases with anxiety disorder and depression in a population of employees absent from work because of mental health problems. Methods: Internal consistency, construct validity, and criterion validity of the
Grotenhuis, H.B.; Nijveld, A.; Backx, A.P.C.M.
We describe two patients who both presented shortly after birth with congestive heart failure due to an absent pulmonary valve and patent ductus arteriosus. Diagnostic evaluation revealed in both cases an aneurysmatic dilation of the pulmonary vascular tree and an abundant left-to-right shunt over a
Bomtorin, Ana Durvalina; Barchuk, Angel Roberto; Moda, Livia Maria; Simoes, Zila Luz Paulino
Beyond the physiological and behavioural, differences in appendage morphology between the workers and queens of Apis mellifera are pre-eminent. The hind legs of workers, which are highly specialized pollinators, deserve special attention. The hind tibia of worker has an expanded bristle-free region used for carrying pollen and propolis, the corbicula. In queens this structure is absent. Although the morphological differences are well characterized, the genetic inputs driving the development of this alternative morphology remain unknown. Leg phenotype determination takes place between the fourth and fifth larval instar and herein we show that the morphogenesis is completed at brown-eyed pupa. Using results from the hybridization of whole genome-based oligonucleotide arrays with RNA samples from hind leg imaginal discs of pre-pupal honeybees of both castes we present a list of 200 differentially expressed genes. Notably, there are castes preferentially expressed cuticular protein genes and members of the P450 family. We also provide results of qPCR analyses determining the developmental transcription profiles of eight selected genes, including abdominal-A, distal-less and ultrabithorax (Ubx), whose roles in leg development have been previously demonstrated in other insect models. Ubx expression in workers hind leg is approximately 25 times higher than in queens. Finally, immunohistochemistry assays show that Ubx localization during hind leg development resembles the bristles localization in the tibia/basitarsus of the adult legs in both castes. Our data strongly indicate that the development of the hind legs diphenism characteristic of this corbiculate species is driven by a set of caste-preferentially expressed genes, such as those encoding cuticular protein genes, P450 and Hox proteins, in response to the naturally different diets offered to honeybees during the larval period.
Ruzhynsky, Vladimir A; Furimsky, Marosh; Park, David S; Wallace, Valerie A; Slack, Ruth S
Increasingly, studies reveal novel functions for cell cycle proteins during development. Here, we investigated the role of E2F4 in eye development. E2F4-deficient mouse embryos exhibit severe early eye patterning defects, which are evident from embryonic day 11.5 and characterized by aberrant shape of the optic cup, coloboma as well as abnormal eye pigmentation. Loss of E2F4 is associated with proximal-distal patterning defects in the optic vesicle. These defects are characterized by the expansion of optic stalk marker gene expression to the optic cup and reduced expression of ventral optic cup markers. These defects are associated with a split of Shh expression domain at the ventral midline of the forebrain and expansion of the Shh activity into the ventral optic cup. Despite these patterning defects, early neuronal differentiation and Shh expression in the retina are not affected by E2F4 deletion. Overall, the results of our studies show a novel role of E2F4 in the early eye development. 2009 S. Karger AG, Basel.
Chauhan, Bharesh; Plageman, Timothy; Lou, Ming; Lang, Richard
Morphogenesis is the developmental process by which tissues and organs acquire the shape that is critical to their function. Here, we review recent advances in our understanding of the mechanisms that drive morphogenesis in the developing eye. These investigations have shown that regulation of the actin cytoskeleton is central to shaping the presumptive lens and retinal epithelia that are the major components of the eye. Regulation of the actin cytoskeleton is mediated by Rho family GTPases, by signaling pathways and indirectly, by transcription factors that govern the expression of critical genes. Changes in the actin cytoskeleton can shape cells through the generation of filopodia (that, in the eye, connect adjacent epithelia) or through apical constriction, a process that produces a wedge-shaped cell. We have also learned that one tissue can influence the shape of an adjacent one, probably by direct force transmission, in a process we term inductive morphogenesis. Though these mechanisms of morphogenesis have been identified using the eye as a model system, they are likely to apply broadly where epithelia influence the shape of organs during development. © 2015 Elsevier Inc. All rights reserved.
Jia, Bei; Huang, Liping; Chen, Yaoyu; Liu, Siping; Chen, Cuihua; Xiong, Ke; Song, Lanlin; Zhou, Yulai; Yang, Xinping; Zhong, Mei
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability.We detected a deletion of 494.6 kb atXp11.3 in both the proband and carrier mother. This deletionwas then used as the molecular marker in prenatal diagnosis for two subsequent pregnancies. The deletion was absent in one of the foetuses, who remain without any abnormalities at 2 years of age. The proband shows the typical ocular clinical features of ND including bilateral retinal detachment, microphthalmia, atrophic irides, corneal opacification, and cataracts, but no symptoms of microcephaly, intellectual disability, and epilepsy. This familial study demonstrates that a deficiency in one of two MAO genes may not lead to psychomotor delay, and deletion of EFHC2 may not cause epilepsy. Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of ND.
Kaneko, Michiko; Mesch, Johanna
This article discusses the role of eye gaze in creative sign language. Because eye gaze conveys various types of linguistic and poetic information, it is an intrinsic part of sign language linguistics in general and of creative signing in particular. We discuss various functions of eye gaze in poetic signing and propose a classification of gaze…