WorldWideScience

Sample records for mosaic eye phenotype

  1. A Mole's Eye View: Marcellus as Mosaic by Rachel Sager

    Science.gov (United States)

    Sager, R.

    2013-12-01

    I am an artist living and working in the energy vortex of Southwestern Pennsylvania and am watching great upheaval, both good and bad, happen to my land and its citizens due to the phenomenon caused by our particular geologic formation; the Marcellus Shale. My work embraces the earth itself through the medium of mosaic, and I have found it to be a great communicator to many groups of people: landowners, gas industry workers, environmentalists. I tell the story of how I came to be so dependent on my native stone, coming from a long line of coal miners and farmers who taught me to be aware of what lies beneath my feet. With my stone hammer, I chop up shale, sandstone, limestone, and coal, transforming it into tiny, expressive pieces that tell stories and help people to grasp geologic concepts that can otherwise be overwhelming and mysterious. I address the industry itself by representing the controversial enterprise of fracking, but also delve intimately into building relationships with the stone that I gather, wash, categorize, cut, and lay into mortar. By depicting these layers of earth, I am building touchable, organic images of geologic time that are highly accessible to the human brain and sensibility. There is something personal and immediate about standing in front of one of these mosaics, being able to touch it that gives the viewer power over an idea that often leaves them feeling in the dark. As a classically trained mosaic artist, I bring back the skills, culture, and tradition of a Euro-centered art form and weave it into my North American geology. Through a highly detailed and dynamic PowerPoint presentation of my work, I help people to see the earth beneath their feet with new eyes. Rachel Sager, artist www.rachelsagermosaics.com Contemporary Art in a Geologic Medium: Rachel Sager Mosaics

  2. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

    Science.gov (United States)

    Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya; Voermans, Nicol C; Foley, A Reghan; Leach, Meganne E; Dastgir, Jahannaz; Bolduc, Véronique; Cullup, Thomas; de Becdelièvre, Alix; Yang, Lin; Su, Hai; Meilleur, Katherine; Schindler, Alice B; Kamsteeg, Erik-Jan; Richard, Pascale; Butterfield, Russell J; Winder, Thomas L; Crawford, Thomas O; Weiss, Robert B; Muntoni, Francesco; Allamand, Valérie; Bönnemann, Carsten G

    2015-01-01

    Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly observed. We present clinical, immunohistochemical, and genetic data on four COL6-RD families with marked intergenerational phenotypic heterogeneity. This variable expression seemingly masquerades as anticipation is due to parental mosaicism for a dominant mutation, with subsequent full inheritance and penetrance of the mutation in the heterozygous offspring. We also present an additional fifth simplex patient identified as a mosaic carrier. Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva. Consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. However, there was notable variability of the mutant allele levels between tissues tested, ranging from 16% (saliva) to 43% (fibroblasts) in one mosaic father. This is the first report demonstrating mosaicism as a cause of intrafamilial/intergenerational variability of COL6-RD, and suggests that sporadic and parental mosaicism may be more common than previously suspected. © 2014 WILEY PERIODICALS, INC.

  3. Transcriptome sequencing of two phenotypic mosaic Eucalyptus trees reveals large scale transcriptome re-modelling.

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    Amanda Padovan

    Full Text Available Phenotypic mosaic trees offer an ideal system for studying differential gene expression. We have investigated two mosaic eucalypt trees from two closely related species (Eucalyptus melliodora and E. sideroxylon, which each support two types of leaves: one part of the canopy is resistant to insect herbivory and the remaining leaves are susceptible. Driving this ecological distinction are differences in plant secondary metabolites. We used these phenotypic mosaics to investigate genome wide patterns of foliar gene expression with the aim of identifying patterns of differential gene expression and the somatic mutation(s that lead to this phenotypic mosaicism. We sequenced the mRNA pool from leaves of the resistant and susceptible ecotypes from both mosaic eucalypts using the Illumina HiSeq 2000 platform. We found large differences in pathway regulation and gene expression between the ecotypes of each mosaic. The expression of the genes in the MVA and MEP pathways is reflected by variation in leaf chemistry, however this is not the case for the terpene synthases. Apart from the terpene biosynthetic pathway, there are several other metabolic pathways that are differentially regulated between the two ecotypes, suggesting there is much more phenotypic diversity than has been described. Despite the close relationship between the two species, they show large differences in the global patterns of gene and pathway regulation.

  4. Packaging and structural phenotype of brome mosaic virus capsid protein with altered N-terminal β-hexamer structure

    International Nuclear Information System (INIS)

    Wispelaere, Melissanne de; Chaturvedi, Sonali; Wilkens, Stephan; Rao, A.L.N.

    2011-01-01

    The first 45 amino acid region of brome mosaic virus (BMV) capsid protein (CP) contains RNA binding and structural domains that are implicated in the assembly of infectious virions. One such important structural domain encompassing amino acids 28 QPVIV 32 , highly conserved between BMV and cowpea chlorotic mottle virus (CCMV), exhibits a β-hexamer structure. In this study we report that alteration of the β-hexamer structure by mutating 28 QPVIV 32 to 28 AAAAA 32 had no effect either on symptom phenotype, local and systemic movement in Chenopodium quinoa and RNA profile of in vivo assembled virions. However, sensitivity to RNase and assembly phenotypes distinguished virions assembled with CP subunits having β-hexamer from those of wild type. A comparison of 3-D models obtained by cryo electron microscopy revealed overall similar structural features for wild type and mutant virions, with small but significant differences near the 3-fold axes of symmetry.

  5. 45,X/46,X dic (Y) mosaicism in a phenotypic male.

    OpenAIRE

    Batstone, P J; Faed, M J; Jung, R T; Gosden, J

    1991-01-01

    Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.

  6. Intracellular localization and movement phenotypes of alfalfa mosaic virus movement protein mutants

    NARCIS (Netherlands)

    Huang, M.; Jongejan, L.; Zheng, H.; Zhang, L.; Bol, J. F.

    2001-01-01

    Thirteen mutations were introduced in the movement protein (MP) gene of Alfalfa mosaic virus (AMV) fused to the green fluorescent protein (GFP) gene and the mutant MP-GFP fusions were expressed transiently in tobacco protoplasts, tobacco suspension cells, and epidermal cells of tobacco leaves. In

  7. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

    Science.gov (United States)

    Bamforth, J S; Lin, C C

    1997-12-31

    DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).

  8. Aktivitas Antivirus Beberapa Ekstrak Tanaman terhadap Bean Common Mosaic Virus strain Black Eye Cowpea (BCMV-BIC pada Kacang Panjang

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    Tri Asmira Damayanti

    2014-03-01

    Full Text Available ABSTRACT Antivirus actitivity of several plant extracts against Bean common mosaic virus strain Black eye cowpea (BCMV-BlC on Yard long bean.  Bean common mosaic virus (BCMV is an important virus on yard long bean and it is difficult to control. One of control effort way by utilizing antiviral substances of plant origin. The research was done to select and test the effectiveness of plant extracts in suppressing BCMV infection on yard long bean. Twenty two plant extracts were selected by (1 spraying the crude extract to Chenopodium amaranticolor leaves, then plant inoculated by BCMV 1 hour after spraying, and (2 mixturing the crude extract with sap containing BCMV, then inoculated mechanically to C. amaranticolor.  Local necrotic lesion  number and inhibition percentage are measured. All plant extract treatments were able to reduce Necrotic lokal lesion  formation significantly  compared to untreatment control. Further, fifteen plant extracts were selected to test their effectiveness in controlling BCMV on yard long bean in green house trial. The results showed that except geranium and red ginger treatment, other extract treatments were able to reduce significantly the disease incidence and severity, symptoms, and  BCMV titer, respectively. Among tested extracts, Bougainvillea spectabilis, Mirabilis jalapa, and Celosia cristata are the most effective crude extracts in suppressing BCMV infection.

  9. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

    NARCIS (Netherlands)

    Donkervoort, S.; Hu, Y.; Stojkovic, T.; Voermans, N.C.; Foley, A.R.; Leach, M.E.; Dastgir, J.; Bolduc, V.; Cullup, T.; Becdelievre, A. de; Yang, L.; Su, H.; Meilleur, K.; Schindler, A.B.; Kamsteeg, E.J.; Richard, P.; Butterfield, R.J.; Winder, T.L.; Crawford, T.O.; Weiss, R.B.; Muntoni, F.; Allamand, V.; Bonnemann, C.G.

    2015-01-01

    Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly

  10. Blue eyes in lemurs and humans: same phenotype, different genetic mechanism

    DEFF Research Database (Denmark)

    Bradley, Brenda J; Pedersen, Anja; Mundy, Nicholas I

    2009-01-01

    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...

  11. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

    Energy Technology Data Exchange (ETDEWEB)

    Ray, J.H.; Zhou, X.; Pletcher, B.A. [Cornell Univ. Medical College, Manhasset, NY (United States)] [and others

    1994-09-01

    De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosome was C-band positive and non-satellited and failed to stain with distamycin A/DAPI. At birth the ultrasound findings were confirmed and dysmorphic features and cryptorchidism were noted. Although a newborn blood sample contained only normal cells, mosaicism was confirmed in 2 skin biopsies. FISH using whole-chromosome painting and alpha-satellite DNA probes showed that the marker chromosome had originated from chromosome 16. As proximal 16q is distamycin A/DAPI positive, the marker is apparently derived from proximal 16p. At 15 months of age, this child is hypotonic, globally delayed and is gavage-fed. His physical examination is significant for microbrachycephaly, a round face, sparse scalp hair, ocular hypertelorism, exotropia, a flat, wide nasal bridge and tip, mild micrognathia, and tapered fingers with lymphedema of hands and feet. Inguinal hernias have been repaired. His features are consistent with those described for patients trisomic for most or all of the short arm of chromosome 16. Marker chromosomes derived from the short arm of chromosome 16 appear to have phenotypic consequences. As the origin of more marker chromosomes are identified using FISH, their karyotype/phenotype correlations will become more apparent, which will permit more accurate genetic counseling.

  12. Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster

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    Janani Iyer

    2016-05-01

    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.

  13. Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

    Energy Technology Data Exchange (ETDEWEB)

    Tarim, O.; Lieber, E. [Maimonides Medical Center, Brooklyn, NY (United States)]|[Interfaith Medical Center, Brooklyn, NY (United States)

    1994-09-01

    A 14 8/12-year-old white female patient was evaluated for short stature and amenorrhea. The past and family history were unremarkable. The physical examination revealed a short girl (131.4 cm; height age: 9) with a weight of 39.5kg (weight age: 11-6/12). The blood pressure was in the normal range in all four extremities and the peripheral pulses were positive. She had stigmata of Turner`s syndrome including short neck and slight webbing, cubitus valgus, and shield chest. There was no heart murmur. The only pubertal sign was pubic hair of Tanner stage II. The chromosome study showed a mosaic pattern. A total of 67 cultured lymphocytes from peripheral blood were analyzed which revealed 13 cells with 45,XO; 14 with 46,XY,r(Y); 39 with 46,XY. The patient had a normal vagina and hypoplastic uterus by sonogram. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Pre-operative hormonal evaluation showed elevated gonadotropin levels of FSH 73.5 and LH 12.5 mIU/ml, low estradiol level of 5 pg/ml, normal testosterone level of 18 and DHEA-S of 181 mcg/dl, and normal thyroid function test with T4 of 6 mcg/dl and TSH of 4.2 mIU/ml. Her bone age was 12 years. The patient was also found to have subnormal growth hormone (GH) secretion by overnight GH study (1.55 ng/ml), clonidine stimulation test (7.3ng/ml), and insulin stimulation test (9.2 ng/ml). She responded well to human synthetic GH treatment with a growth velocity of 11.5 cm in two years. Replacement of sex hormones will be initiated after the completion of growth.

  14. Plant Phenotyping through the Eyes of Complex Systems: Theoretical Considerations

    Science.gov (United States)

    Kim, J.

    2017-12-01

    Plant phenotyping is an emerging transdisciplinary research which necessitates not only the communication and collaboration of scientists from different disciplines but also the paradigm shift to a holistic approach. Complex system is defined as a system having a large number of interacting parts (or particles, agents), whose interactions give rise to non-trivial properties like self-organization and emergence. Plant ecosystems are complex systems which are continually morphing dynamical systems, i.e. self-organizing hierarchical open systems. Such systems are composed of many subunits/subsystems with nonlinear interactions and feedback. The throughput such as the flow of energy, matter and information is the key control parameter in complex systems. Information theoretic approaches can be used to understand and identify such interactions, structures and dynamics through reductions in uncertainty (i.e. entropy). The theoretical considerations based on network and thermodynamic thinking and exemplary analyses (e.g. dynamic process network, spectral entropy) of the throughput time series will be presented. These can be used as a framework to develop more discipline-specific fundamental approaches to provide tools for the transferability of traits between measurement scales in plant phenotyping. Acknowledgment: This work was funded by the Weather Information Service Engine Program of the Korea Meteorological Administration under Grant KMIPA-2012-0001.

  15. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

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    Anderlid, Britt-Marie; Lundin, Johanna; Malmgren, Helena; Lehtihet, Mikael; Nordgren, Ann

    2014-02-01

    Genetic analyses were performed in a male patient with suspected Prader-Willi syndrome who presented with hypogonadism, excessive eating, central obesity, small hands and feet and cognition within the low normal range. However, he had no neonatal hypotonia or feeding problems during infancy. Chromosome analysis showed a normal male karyotype. Further analysis with array-CGH identified a mosaic 847 kb deletion in 15q11-q13, including SNURF-SNRPN, the snoRNA gene clusters SNORD116 (HBII-85), SNORD115, (HBII-52), SNORD109 A and B (HBII-438A and B), SNORD64 (HBII-13), and NPAP1 (C15ORF2). MLPA confirmed the deletion and the results were compatible with a paternal origin. Metaphase-FISH verified the mosaicism with the deletion present in 58% of leukocytes analyzed. Three smaller deletions in this region have previously been reported in patients with Prader-Willi syndrome phenotype. All three deletions included SNORD116, but only two encompassed parts of SNURF-SNRPN, implicating SNORD116 as the major contributor to the Prader-Willi phenotype. Our case adds further information about genotype-phenotype correlation and supports the hypothesis that SNORD116 plays a major role in the pathogenesis of Prader-Willi syndrome. Furthermore, it examplifies diagnostic difficulties in atypical cases and illustrates the need for additional testing methods when Prader-Willi syndrome is suspected. © 2013 Wiley Periodicals, Inc.

  16. Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype.

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    Smit, Maria; Segers, Karin; Carrascosa, Laura Garcia; Shay, Tracy; Baraldi, Francesca; Gyapay, Gabor; Snowder, Gary; Georges, Michel; Cockett, Noelle; Charlier, Carole

    2003-01-01

    To identify the callipyge mutation, we have resequenced 184 kb spanning the DLK1-, GTL2-, PEG11-, and MEG8-imprinted domain and have identified an A-to-G transition in a highly conserved dodecamer motif between DLK1 and GTL2. This was the only difference found between the callipyge (CLPG) allele and a phylogenetically closely related wild-type allele. We report that this SNP is in perfect association with the callipyge genotype. The demonstration that Solid Gold-the alleged founder ram of the callipyge flock-is mosaic for this SNP virtually proves the causality of this SNP in the determinism of the callipyge phenotype. PMID:12586730

  17. Cowpea mosaic virus-based chimaeras Effects of inserted peptides on the phenotype, host range, and transmissibility of the modified viruses

    International Nuclear Information System (INIS)

    Porta, Claudine; Spall, Valerie E.; Findlay, Kim C.; Gergerich, Rose C.; Farrance, Christine E.; Lomonossoff, George P.

    2003-01-01

    Expression of foreign peptides on the surface of cowpea mosaic virus particles leads to the creation of chimaeras with a variety of phenotypes and yields. Two factors were shown to be particularly significant in determining the properties of a given chimaera: the length of the inserted sequence and its isoelectric point. The deleterious effect of high isoelectric point on the ability of chimeras to produce a systemic infection occurs irrespective of the site of insertion of the peptide. Ultrastructural analysis of tissue infected with chimaeras with different phenotypes showed that all produced particles with a tendency to aggregate, irrespective of the size or isoelectric point of the insert. Host range and transmission studies revealed that the expression of a foreign peptide did not (1) alter the virus host range, (2) increase the rate of transmission by beetles or through seed, or (3) change the insect vector specificity. These findings have implications for both the utility and the biosafety of Cowpea mosaic virus-based chimaeras

  18. Phenotypic plasticity in opsin expression in a butterfly compound eye complements sex role reversal

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    Everett Andrew

    2012-11-01

    Full Text Available Abstract Background Animals often display phenotypic plasticity in morphologies and behaviors that result in distinct adaptations to fluctuating seasonal environments. The butterfly Bicyclus anynana has two seasonal forms, wet and dry, that vary in wing ornament brightness and in the identity of the sex that performs the most courting and choosing. Rearing temperature is the cue for producing these alternative seasonal forms. We hypothesized that, barring any developmental constraints, vision should be enhanced in the choosy individuals but diminished in the non-choosy individuals due to physiological costs. As a proxy of visual performance we measured eye size, facet lens size, and sensitivity to light, e.g., the expression levels of all opsins, in males and females of both seasonal forms. Results We found that B. anynana eyes displayed significant sexual dimorphism and phenotypic plasticity for both morphology and opsin expression levels, but not all results conformed to our prediction. Males had larger eyes than females across rearing temperatures, and increases in temperature produced larger eyes in both sexes, mostly via increases in facet number. Ommatidia were larger in the choosy dry season (DS males and transcript levels for all three opsins were significantly lower in the less choosy DS females. Conclusions Opsin level plasticity in females, and ommatidia size plasticity in males supported our visual plasticity hypothesis but males appear to maintain high visual function across both seasons. We discuss our results in the context of distinct sexual and natural selection pressures that may be facing each sex in the wild in each season.

  19. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

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    Burglen Lydie

    2012-03-01

    Full Text Available Abstract Background Pontocerebellar hypoplasia (PCH is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH. Methods Fourteen patients (12 females and two males; aged 16 months-14 years presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14. Ten patients (8 girls and 2 boys had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy, deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that

  20. The evolution of vertebrate eye size across an environmental gradient: phenotype does not predict genotype in a Trinidadian killifish.

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    Beston, Shannon M; Wostl, Elijah; Walsh, Matthew R

    2017-08-01

    Vertebrates exhibit substantial variation in eye size. Eye size correlates positively with visual capacity and behaviors that enhance fitness, such as predator avoidance. This foreshadows a connection between predation and eye size evolution. Yet, the conditions that favor evolutionary shifts in eye size, besides the well-known role for light availability, are unclear. We tested the influence of predation on the evolution of eye size in Trinidadian killifish, Rivulus hartii. Rivulus are located across a series of communities where they coexist with visually oriented piscivores ("high predation" sites), and no predators ("Rivulus-only" sites). Wild-caught Rivulus from high predation sites generally exhibited a smaller relative eye size than communities that lack predators. Yet, such differences were inconsistent across rivers. Second-generation common garden reared fish revealed repeatable decreases in eye size in Rivulus from high predation sites. We performed additional experiments that tested the importance of light and resources on eye size evolution. Sites that differ in light or resource availability did not differ in eye size. Our results argue that differences in predator-induced mortality underlie genetically-based shifts in vertebrate eye size. We discuss the drivers of eye size evolution in light of the nonparallel trends between the phenotypic and common garden results. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.

  1. Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

    Science.gov (United States)

    Jdila, Marwa Ben; Issa, Abir Ben; Khabou, Boudour; Rhouma, Bochra Ben; Kamoun, Fatma; Ammar-Keskes, Leila; Triki, Chahnez; Fakhfakh, Faiza

    2017-10-01

    West syndrome is a rare epileptic encephalopathy of early infancy, characterized by epileptic spasms, hypsarrhythmia, and psychomotor retardation beginning in the first year of life. The present study reports the clinical, molecular and bioinformatic investigation in the three studied West patients. The results revealed a complex genotype with more than one mutation in each patient including the known mutations c.1910C>G (P2, P3); c.2372A>C in P3 and c.2395C>G in P1 and novel variants including c.616G>A, shared by the three patients P1, P2 and P3; c.1403G>C shared by P2 and P3 and c.2288A>G in patient P1. All the mutations were at somatic mosaic state and were de novo in the patients except ones (c.2372A>C). To our knowledge; the somatic mosaic state is described for the first time in patients with West syndrome. Five identified mutations were located in the C-terminal domain of the protein, while the novel mutation (c.616G>A) was in the catalytic domain. Bioinformatic tools predicted that this latter is the most pathogenic substitution affecting 3D protein structure and the secondary mRNA structure. Complex genotype composed of different combinations of mutations in each patient seems to be related to the phenotype variability. Copyright © 2017. Published by Elsevier B.V.

  2. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

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    Asur, Rajalakshmi S; Kimble, Danielle C; Lach, Francis P; Jung, Moonjung; Donovan, Frank X; Kamat, Aparna; Noonan, Raymond J; Thomas, James W; Park, Morgan; Chines, Peter; Vlachos, Adrianna; Auerbach, Arleen D; Smogorzewska, Agata; Chandrasekharappa, Settara C

    2018-01-01

    Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA. We describe here an FA-B patient with a mild phenotype. The DEB diagnostic test for FA revealed somatic mosaicism. We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. A four bp homology (GTAG) present at both ends of the breakpoint is consistent with microhomology-mediated duplication mechanism. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*). Duplication levels in the peripheral blood DNA declined from 93% to 7.9% in the span of eleven years. Moreover, the patient fibroblasts have shown 8% of wild-type (WT) allele and his carrier mother showed higher than expected levels of WT allele (79% vs. 50%) in peripheral blood, suggesting that the duplication was highly unstable. Unlike sequence point variants, intragenic duplications are difficult to precisely define, accurately quantify, and may be very unstable, challenging the proper diagnosis. The reversion of genomic duplication to the WT allele results in somatic mosaicism and may explain the relatively milder phenotype displayed by the FA

  3. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8(::p12→q13.1:: associated with phenotypic abnormalities

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    Chih-Ping Chen

    2016-12-01

    Conclusion: Mosaic sSMC(8 derived from r(8(::p12→q13.1:: can present phenotypic abnormalities. Chromosome 8q12 duplication syndrome should be included in differential diagnosis when an sSMC(8 contains 8q12.2 and CHD7.

  4. Advanced diabetic nephropathy with “Clean” eyes: An extreme phenotype

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    Debmalya Sanyal

    2018-01-01

    Full Text Available Introduction: It is generally accepted that renal and eye changes in diabetes are concordant. There are however a fair number of patients with diabetes who have end-stage renal disease (ESRD without any of the typical eye changes. The present study highlights the discordance between retinopathy and nephropathy and describes a series of patients of long-standing diabetes undergoing renal transplant who had little or no evidence of retinopathy. Methods: All patients with ESRD undergoing renal transplants underwent comprehensive fundus evaluation including dilated indirect ophthalmoscopy, slit lamp biomicroscopy, and fundus photography. The patients' age, gender, physical parameters (body mass index and blood pressure, duration of diabetes, glycosylated hemoglobin (HbA1c, albumin creatinine ratio, and presence of diabetic peripheral neuropathy (DPN were determined. Renal histopathology was reviewed, if available. Results: Five patients with diabetic nephropathy (DN underwent renal transplant and had no evidence of diabetic retinopathy (DR or up to two microaneurysms per fundus. All the patients were between 50 and 65 (mean ± standard deviation – 58.6 ± 4.67 years of age. The mean duration of diabetes was 16 ± 2.91 years. All had poor glycemic control with a mean HbA1c of 9.2 ± 0.837%. All had hypertension, macroalbuminuria, and DPN. Conclusion: There is a well-recognized association between retinopathy and nephropathy, in which nephropathy without retinopathy is rare but retinopathy without nephropathy is common. We have identified a subset of patients with kidney disease of sufficient severity to warrant renal transplant but who are protected from retinopathy. It is possible that there is an extreme phenotype of DN patients with unaffected eyes who carry genes protecting against DR.

  5. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

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    Chih-Ping Chen

    2010-03-01

    Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.

  6. Are we Genomic Mosaics? Variations of the Genome of Somatic Cells can Contribute to Diversify our Phenotypes.

    Science.gov (United States)

    Astolfi, P A; Salamini, F; Sgaramella, V

    2010-09-01

    Theoretical and experimental evidences support the hypothesis that the genomes and the epigenomes may be different in the somatic cells of complex organisms. In the genome, the differences range from single base substitutions to chromosome number; in the epigenome, they entail multiple postsynthetic modifications of the chromatin. Somatic genome variations (SGV) may accumulate during development in response both to genetic programs, which may differ from tissue to tissue, and to environmental stimuli, which are often undetected and generally irreproducible. SGV may jeopardize physiological cellular functions, but also create novel coding and regulatory sequences, to be exposed to intraorganismal Darwinian selection. Genomes acknowledged as comparatively poor in genes, such as humans', could thus increase their pristine informational endowment. A better understanding of SGV will contribute to basic issues such as the "nature vs nurture" dualism and the inheritance of acquired characters. On the applied side, they may explain the low yield of cloning via somatic cell nuclear transfer, provide clues to some of the problems associated with transdifferentiation, and interfere with individual DNA analysis. SGV may be unique in the different cells types and in the different developmental stages, and thus explain the several hundred gaps persisting in the human genomes "completed" so far. They may compound the variations associated to our epigenomes and make of each of us an "(epi)genomic" mosaic. An ensuing paradigm is the possibility that a single genome (the ephemeral one assembled at fertilization) has the capacity to generate several different brains in response to different environments.

  7. 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

    Science.gov (United States)

    Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia

    2009-11-01

    To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

  8. Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

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    Sakati Nadia

    2011-04-01

    Full Text Available Abstract Background Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date. Results We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12(q24.31q24.33 in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. Conclusions Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in observed phenotype.

  9. Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.

    Science.gov (United States)

    Nakayama, Takuya; Fisher, Marilyn; Nakajima, Keisuke; Odeleye, Akinleye O; Zimmerman, Keith B; Fish, Margaret B; Yaoita, Yoshio; Chojnowski, Jena L; Lauderdale, James D; Netland, Peter A; Grainger, Robert M

    2015-12-15

    Mutations in the Pax6 gene cause ocular defects in both vertebrate and invertebrate animal species, and the disease aniridia in humans. Despite extensive experimentation on this gene in multiple species, including humans, we still do not understand the earliest effects on development mediated by this gene. This prompted us to develop pax6 mutant lines in Xenopus tropicalis taking advantage of the utility of the Xenopus system for examining early development and in addition to establish a model for studying the human disease aniridia in an accessible lower vertebrate. We have generated mutants in pax6 by using Transcription Activator-Like Effector Nuclease (TALEN) constructs for gene editing in X. tropicalis. Embryos with putative null mutations show severe eye abnormalities and changes in brain development, as assessed by changes in morphology and gene expression. One gene that we found is downregulated very early in development in these pax6 mutants is myc, a gene involved in pluripotency and progenitor cell maintenance and likely a mediator of some key pax6 functions in the embryo. Changes in gene expression in the developing brain and pancreas reflect other important functions of pax6 during development. In mutations with partial loss of pax6 function eye development is initially relatively normal but froglets show an underdeveloped iris, similar to the classic phenotype (aniridia) seen in human patients with PAX6 mutations. Other eye abnormalities observed in these froglets, including cataracts and corneal defects, are also common in human aniridia. The frog model thus allows us to examine the earliest deficits in eye formation as a result of pax6 lesions, and provides a useful model for understanding the developmental basis for the aniridia phenotype seen in humans. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Mosaic Messages

    Science.gov (United States)

    Baldauf, Annemarie

    2012-01-01

    Through the generosity of a Lowes Toolbox for Education Grant and a grant from the Bill Graham Foundation, an interdisciplinary mosaic mural was created and installed at Riverview Middle School in Bay Point, California. The actual mural, which featured a theme of nurturing students through music, art, sports, science, and math, took about three…

  11. Tubule-forming capacity of the movement proteins of alfalfa mosaic virus and brome mosaic virus

    NARCIS (Netherlands)

    Kasteel, D. T.; van der Wel, N. N.; Jansen, K. A.; Goldbach, R. W.; van Lent, J. W.

    1997-01-01

    The structural phenotype of the movement proteins (MPs) of two representatives of the Bromoviridae, alfalfa mosaic virus (AMV) and brome mosaic virus (BMV), was studied in protoplasts. Immunofluorescence microscopy showed that the MPs of these viruses, for which there has been no evidence of a

  12. The connective tissue phenotype of glaucomatous cupping in the monkey eye - Clinical and research implications.

    Science.gov (United States)

    Yang, Hongli; Reynaud, Juan; Lockwood, Howard; Williams, Galen; Hardin, Christy; Reyes, Luke; Stowell, Cheri; Gardiner, Stuart K; Burgoyne, Claude F

    2017-07-01

    In a series of previous publications we have proposed a framework for conceptualizing the optic nerve head (ONH) as a biomechanical structure. That framework proposes important roles for intraocular pressure (IOP), IOP-related stress and strain, cerebrospinal fluid pressure (CSFp), systemic and ocular determinants of blood flow, inflammation, auto-immunity, genetics, and other non-IOP related risk factors in the physiology of ONH aging and the pathophysiology of glaucomatous damage to the ONH. The present report summarizes 20 years of technique development and study results pertinent to the characterization of ONH connective tissue deformation and remodeling in the unilateral monkey experimental glaucoma (EG) model. In it we propose that the defining pathophysiology of a glaucomatous optic neuropathy involves deformation, remodeling, and mechanical failure of the ONH connective tissues. We view this as an active process, driven by astrocyte, microglial, fibroblast and oligodendrocyte mechanobiology. These cells, and the connective tissue phenomena they propagate, have primary and secondary effects on retinal ganglion cell (RGC) axon, laminar beam and retrolaminar capillary homeostasis that may initially be "protective" but eventually lead to RGC axonal injury, repair and/or cell death. The primary goal of this report is to summarize our 3D histomorphometric and optical coherence tomography (OCT)-based evidence for the early onset and progression of ONH connective tissue deformation and remodeling in monkey EG. A second goal is to explain the importance of including ONH connective tissue processes in characterizing the phenotype of a glaucomatous optic neuropathy in all species. A third goal is to summarize our current efforts to move from ONH morphology to the cell biology of connective tissue remodeling and axonal insult early in the disease. A final goal is to facilitate the translation of our findings and ideas into neuroprotective interventions that target

  13. Identification of QTL for UV-protective eye area pigmentation in cattle by progeny phenotyping and genome-wide association analysis.

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    Hubert Pausch

    Full Text Available Pigmentation patterns allow for the differentiation of cattle breeds. A dominantly inherited white head is characteristic for animals of the Fleckvieh (FV breed. However, a minority of the FV animals exhibits peculiar pigmentation surrounding the eyes (ambilateral circumocular pigmentation, ACOP. In areas where animals are exposed to increased solar ultraviolet radiation, ACOP is associated with a reduced susceptibility to bovine ocular squamous cell carcinoma (BOSCC, eye cancer. Eye cancer is the most prevalent malignant tumour affecting cattle. Selection for animals with ACOP rapidly reduces the incidence of BOSCC. To identify quantitative trait loci (QTL underlying ACOP, we performed a genome-wide association study using 658,385 single nucleotide polymorphisms (SNPs. The study population consisted of 3579 bulls of the FV breed with a total of 320,186 progeny with phenotypes for ACOP. The proportion of progeny with ACOP was used as a quantitative trait with high heritability (h(2 = 0.79. A variance component based approach to account for population stratification uncovered twelve QTL regions on seven chromosomes. The identified QTL point to MCM6, PAX3, ERBB3, KITLG, LEF1, DKK2, KIT, CRIM1, ATRN, GSDMC, MITF and NBEAL2 as underlying genes for eye area pigmentation in cattle. The twelve QTL regions explain 44.96% of the phenotypic variance of the proportion of daughters with ACOP. The chromosomes harbouring significantly associated SNPs account for 54.13% of the phenotypic variance, while another 19.51% of the phenotypic variance is attributable to chromosomes without identified QTL. Thus, the missing heritability amounts to 7% only. Our results support a polygenic inheritance pattern of ACOP in cattle and provide the basis for efficient genomic selection of animals that are less susceptible to serious eye diseases.

  14. Chromosome mosaicism in hypomelanosis of Ito.

    Science.gov (United States)

    Ritter, C L; Steele, M W; Wenger, S L; Cohen, B A

    1990-01-01

    Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.

  15. Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.

    Science.gov (United States)

    Moncada-Vélez, M; Vélez-Ortega, A; Orrego, J; Santisteban, I; Jagadeesh, J; Olivares, M; Olaya, N; Hershfield, M; Candotti, F; Franco, J

    2011-11-01

    Patients with adenosine deaminase (ADA) deficiency exhibit spontaneous and partial clinical remission associated with somatic reversion of inherited mutations. We report a child with severe combined immunodeficiency (T-B- SCID) due to ADA deficiency diagnosed at the age of 1 month, whose lymphocyte counts including CD4+ and CD8+ T and NK cells began to improve after several months with normalization of ADA activity in Peripheral blood lymphocytes (PBL), as a result of somatic mosaicism caused by monoallelic reversion of the causative mutation in the ADA gene. He was not eligible for haematopoietic stem cell transplantation (HSCT) or gene therapy (GT); therefore he was placed on enzyme replacement therapy (ERT) with bovine PEG-ADA. The follow-up of metabolic and immunologic responses to ERT included gradual improvement in ADA activity in erythrocytes and transient expansion of most lymphocyte subsets, followed by gradual stabilization of CD4+ and CD8+ T (with naïve phenotype) and NK cells, and sustained expansion of TCRγδ+ T cells. This was accompanied by the disappearance of the revertant T cells as shown by DNA sequencing from PBL. Although the patient's clinical condition improved marginally, he later developed a germinal cell tumour and eventually died at the age of 67 months from sepsis. This case adds to our current knowledge of spontaneous reversion of mutations in ADA deficiency and shows that the effects of the ERT may vary among these patients, suggesting that it could depend on the cell and type in which the somatic mosaicism is established upon reversion. © 2011 The Authors. Scandinavian Journal of Immunology © 2011 Blackwell Publishing Ltd.

  16. Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.

    Science.gov (United States)

    Rodriguez-Fernandez, Imilce A; Dell'Angelica, Esteban C

    2015-01-01

    The Adaptor Protein (AP)-3 complex is an evolutionary conserved, molecular sorting device that mediates the intracellular trafficking of proteins to lysosomes and related organelles. Genetic defects in AP-3 subunits lead to impaired biogenesis of lysosome-related organelles (LROs) such as mammalian melanosomes and insect eye pigment granules. In this work, we have performed a forward screening for genetic modifiers of AP-3 function in the fruit fly, Drosophila melanogaster. Specifically, we have tested collections of large multi-gene deletions--which together covered most of the autosomal chromosomes-to identify chromosomal regions that, when deleted in single copy, enhanced or ameliorated the eye pigmentation phenotype of two independent AP-3 subunit mutants. Fine-mapping led us to define two non-overlapping, relatively small critical regions within fly chromosome 3. The first critical region included the Atg2 gene, which encodes a conserved protein involved in autophagy. Loss of one functional copy of Atg2 ameliorated the pigmentation defects of mutants in AP-3 subunits as well as in two other genes previously implicated in LRO biogenesis, namely Blos1 and lightoid, and even increased the eye pigment content of wild-type flies. The second critical region included the ArfGAP1 gene, which encodes a conserved GTPase-activating protein with specificity towards GTPases of the Arf family. Loss of a single functional copy of the ArfGAP1 gene ameliorated the pigmentation phenotype of AP-3 mutants but did not to modify the eye pigmentation of wild-type flies or mutants in Blos1 or lightoid. Strikingly, loss of the second functional copy of the gene did not modify the phenotype of AP-3 mutants any further but elicited early lethality in males and abnormal eye morphology when combined with mutations in Blos1 and lightoid, respectively. These results provide genetic evidence for new functional links connecting the machinery for biogenesis of LROs with molecules implicated in

  17. Pengendalian Aphis craccivora Koch. dengan kitosan dan pengaruhnya terhadap penularan Bean common mosaic virus strain Black eye cowpea (BCMV-BlC pada kacang panjang

    Directory of Open Access Journals (Sweden)

    Dita Megasari

    2015-09-01

    Full Text Available Aphis craccivora is one of the important pests on yard long bean. It causes direct damage and also has an indirect effect as insect vector of the Bean common mosaic virus (BCMV. The research was done to test the effectiveness of chitosan in suppressing aphid population growth, feeding preference and its ability in transmiting BCMV. Chitosan with concentration ranging of 0.1–1.0% were applied on leaves using spraying method at 1 day before BCMV transmission. BCMV was transmitted by using 3 individuals of viruliferous aphids on each plant. Results show that chitosan treatments on leaves or plants significantly suppressed the population and feeding preferences of A. craccivora. Further, treated plants showed lower disease incidence, severity and BCMV titre significantly compared with untreated control plants. The positive effects of chitosan in suppressing population growth as feeding preferences and BCMV transmission might be due to the anti-feedant effect of chitosan on A. craccivora. Based on the result, chitosan at concentration 0.9% is the most effective concentration in suppressing BCMV and its vector A. craccivora.

  18. The Clinical Phenotype of Idiopathic Rapid Eye Movement Sleep Behavior Disorder at Presentation: A Study in 203 Consecutive Patients.

    Science.gov (United States)

    Fernández-Arcos, Ana; Iranzo, Alex; Serradell, Mónica; Gaig, Carles; Santamaria, Joan

    2016-01-01

    To describe the clinical phenotype of idiopathic rapid eye movement (REM) sleep behavior disorder (IRBD) at presentation in a sleep center. Clinical history review of 203 consecutive patients with IRBD identified between 1990 and 2014. IRBD was diagnosed by clinical history plus video-polysomnographic demonstration of REM sleep with increased electromyographic activity linked to abnormal behaviors. Patients were 80% men with median age at IRBD diagnosis of 68 y (range, 50-85 y). In addition to the already known clinical picture of IRBD, other important features were apparent: 44% of the patients were not aware of their dream-enactment behaviors and 70% reported good sleep quality. In most of these cases bed partners were essential to convince patients to seek medical help. In 11% IRBD was elicited only after specific questioning when patients consulted for other reasons. Seven percent did not recall unpleasant dreams. Leaving the bed occurred occasionally in 24% of subjects in whom dementia with Lewy bodies often developed eventually. For the correct diagnosis of IRBD, video-polysomnography had to be repeated in 16% because of insufficient REM sleep or electromyographic artifacts from coexistent apneas. Some subjects with comorbid obstructive sleep apnea reported partial improvement of RBD symptoms following continuous positive airway pressure therapy. Lack of therapy with clonazepam resulted in an increased risk of sleep related injuries. Synucleinopathy was frequently diagnosed, even in patients with mild severity or uncommon IRBD presentations (e.g., patients who reported sleeping well, onset triggered by a life event, nocturnal ambulation) indicating that the development of a neurodegenerative disease is independent of the clinical presentation of IRBD. We report the largest IRBD cohort observed in a single center to date and highlight frequent features that were not reported or not sufficiently emphasized in previous publications. Physicians should be aware of

  19. CLEMENTINE HIRES MOSAIC

    Data.gov (United States)

    National Aeronautics and Space Administration — This CD contains portions of the Clementine HiRes Lunar Mosaic, a geometrically controlled, calibrated mosaic compiled from non-uniformity corrected, 750 nanometer...

  20. Constitutional trisomy 8 mosaicism syndrome: case report and review.

    Science.gov (United States)

    Udayakumar, Achandira M; Al-Kindy, Adila

    2013-12-01

    Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

  1. Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3 Mutants in Drosophila melanogaster.

    Directory of Open Access Journals (Sweden)

    Imilce A Rodriguez-Fernandez

    Full Text Available The Adaptor Protein (AP-3 complex is an evolutionary conserved, molecular sorting device that mediates the intracellular trafficking of proteins to lysosomes and related organelles. Genetic defects in AP-3 subunits lead to impaired biogenesis of lysosome-related organelles (LROs such as mammalian melanosomes and insect eye pigment granules. In this work, we have performed a forward screening for genetic modifiers of AP-3 function in the fruit fly, Drosophila melanogaster. Specifically, we have tested collections of large multi-gene deletions--which together covered most of the autosomal chromosomes-to identify chromosomal regions that, when deleted in single copy, enhanced or ameliorated the eye pigmentation phenotype of two independent AP-3 subunit mutants. Fine-mapping led us to define two non-overlapping, relatively small critical regions within fly chromosome 3. The first critical region included the Atg2 gene, which encodes a conserved protein involved in autophagy. Loss of one functional copy of Atg2 ameliorated the pigmentation defects of mutants in AP-3 subunits as well as in two other genes previously implicated in LRO biogenesis, namely Blos1 and lightoid, and even increased the eye pigment content of wild-type flies. The second critical region included the ArfGAP1 gene, which encodes a conserved GTPase-activating protein with specificity towards GTPases of the Arf family. Loss of a single functional copy of the ArfGAP1 gene ameliorated the pigmentation phenotype of AP-3 mutants but did not to modify the eye pigmentation of wild-type flies or mutants in Blos1 or lightoid. Strikingly, loss of the second functional copy of the gene did not modify the phenotype of AP-3 mutants any further but elicited early lethality in males and abnormal eye morphology when combined with mutations in Blos1 and lightoid, respectively. These results provide genetic evidence for new functional links connecting the machinery for biogenesis of LROs with

  2. Rapid eye movements during sleep in mice: High trait-like stability qualifies rapid eye movement density for characterization of phenotypic variation in sleep patterns of rodents

    Directory of Open Access Journals (Sweden)

    Fulda Stephany

    2011-11-01

    Full Text Available Abstract Background In humans, rapid eye movements (REM density during REM sleep plays a prominent role in psychiatric diseases. Especially in depression, an increased REM density is a vulnerability marker for depression. In clinical practice and research measurement of REM density is highly standardized. In basic animal research, almost no tools are available to obtain and systematically evaluate eye movement data, although, this would create increased comparability between human and animal sleep studies. Methods We obtained standardized electroencephalographic (EEG, electromyographic (EMG and electrooculographic (EOG signals from freely behaving mice. EOG electrodes were bilaterally and chronically implanted with placement of the electrodes directly between the musculus rectus superior and musculus rectus lateralis. After recovery, EEG, EMG and EOG signals were obtained for four days. Subsequent to the implantation process, we developed and validated an Eye Movement scoring in Mice Algorithm (EMMA to detect REM as singularities of the EOG signal, based on wavelet methodology. Results The distribution of wakefulness, non-REM (NREM sleep and rapid eye movement (REM sleep was typical of nocturnal rodents with small amounts of wakefulness and large amounts of NREM sleep during the light period and reversed proportions during the dark period. REM sleep was distributed correspondingly. REM density was significantly higher during REM sleep than NREM sleep. REM bursts were detected more often at the end of the dark period than the beginning of the light period. During REM sleep REM density showed an ultradian course, and during NREM sleep REM density peaked at the beginning of the dark period. Concerning individual eye movements, REM duration was longer and amplitude was lower during REM sleep than NREM sleep. The majority of single REM and REM bursts were associated with micro-arousals during NREM sleep, but not during REM sleep. Conclusions Sleep

  3. Brief Report: Broad Autism Phenotype in Adults Is Associated with Performance on an Eye-Tracking Measure of Joint Attention

    Science.gov (United States)

    Swanson, Meghan R.; Siller, Michael

    2014-01-01

    The current study takes advantage of modern eye-tracking technology and evaluates how individuals allocate their attention when viewing social videos that display an adult model who is gazing at a series of targets that appear and disappear in the four corners of the screen (congruent condition), or gazing elsewhere (incongruent condition). Data…

  4. Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis.

    Science.gov (United States)

    Vorsanova, Svetlana G; Zelenova, Maria A; Yurov, Yuri B; Iourov, Ivan Y

    2018-04-01

    Behavioral sciences are inseparably related to genetics. A variety of neurobehavioral phenotypes are suggested to result from genomic variations. However, the contribution of genetic factors to common behavioral disorders (i.e. autism, schizophrenia, intellectual disability) remains to be understood when an attempt to link behavioral variability to a specific genomic change is made. Probably, the least appreciated genetic mechanism of debilitating neurobehavioral disorders is somatic mosaicism or the occurrence of genetically diverse (neuronal) cells in an individual's brain. Somatic mosaicism is assumed to affect directly the brain being associated with specific behavioral patterns. As shown in studies of chromosome abnormalities (syndromes), genetic mosaicism is able to change dynamically the phenotype due to inconsistency of abnormal cell proportions. Here, we hypothesize that brain-specific postzygotic changes of mosaicism levels are able to modulate variability of behavioral phenotypes. More precisely, behavioral phenotype variability in individuals exhibiting somatic mosaicism might correlate with changes in the amount of genetically abnormal cells throughout the lifespan. If proven, the hypothesis can be used as a basis for therapeutic interventions through regulating levels of somatic mosaicism to increase functioning and to improve overall condition of individuals with behavioral problems.

  5. Collagen VII deficient mice show morphologic and histologic corneal changes that phenotypically mimic human dystrophic epidermolysis bullosa of the eye.

    Science.gov (United States)

    Chen, Vicki M; Shelke, Rajani; Nyström, Alexander; Laver, Nora; Sampson, James F; Zhiyi, Cao; Bhat, Najma; Panjwani, Noorjahan

    2018-06-16

    Absence of collagen VII causes blistering of the skin, eyes and many other tissues. This disease is termed dystrophic epidermolysis bullosa (DEB). Corneal fibrosis occurs in up to 41% and vision loss in up to 64% of patients. Standard treatments are supportive and there is no cure. The immune-histologic and morphologic changes in the corneas of the mouse model for this disease have not been described in the literature. Our purpose is to characterize the eyes of these mice to determine if this is an appropriate model for study of human therapeutics. Western blot analysis (WB) and immunohistochemistry (IHC) were performed to assess the relative collagen VII protein levels and its location within the cornea. Additional IHC for inflammatory and fibrotic biomarkers alpha-smooth muscle actin (α-SMA), transforming growth factor-beta (TGF-β), connective tissue growth factor (CTGF), proteinase 3, tenascin C and collagen III were performed. Clinical photographs documenting opacification of the corneas of animals of differing ages were assessed and scored independently by 2 examiners. Histology was then used to investigate morphologic changes. IHC and WB confirmed that these mice are deficient in collagen VII production at the level of the basement membrane when compared with wild-types. IHC showed anomalous deposition of collagen III throughout the stroma. Of the 5 biomarkers tested, TGF-β showed the strongest and most consistently staining. Photographs documented corneal opacities only in mice older than 10 weeks, opacities were not seen in younger animals. Histology showed multiple abnormalities, including epithelial hyperplasia, ulceration, fibrosis, edema, dysplasia, neovascularization and bullae formation. The collagen VII hypomorphic mouse shows reduced collagen VII production at the level of the corneal basement membrane. Corneal changes are similar to pathology seen in humans with this disease. The presence of anomalous stromal collagen III and TGF-β appear to be

  6. Characteristics of rose mosaic diseases

    Directory of Open Access Journals (Sweden)

    Marek S. Szyndel

    2013-12-01

    Full Text Available Presented review of rose diseases, associated with the mosaic symptoms, includes common and yellow rose mosaic, rose ring pattern, rose X disease, rose line pattern, yellow vein mosaic and rose mottle mosaic disease. Based on symptomatology and graft transmissibility of causing agent many of those rose disorders are called "virus-like diseases" since the pathogen has never been identified. However, several viruses were detected and identified in roses expressing mosaic symptoms. Currently the most prevalent rose viruses are Prunus necrotic ringspot virus - PNRSV, Apple mosaic virus - ApMV (syn. Rose mosaic virus and Arabis mosaic virus - ArMV Symptoms and damages caused by these viruses are described. Tomato ringspot virus, Tobacco ringspot virus and Rose mottle mosaic virus are also mentioned as rose pa thogcns. Methods of control of rose mosaic diseases are discussed.

  7. Sex mosaics in a male dimorphic ant Cardiocondyla kagutsuchi

    Science.gov (United States)

    Yoshizawa, Juri; Mimori, Kohei; Yamauchi, Katsusuke; Tsuchida, Koji

    2009-01-01

    Gynandromorphy, or the development of organisms with a combination of male and female morphological features, is common in Hymenoptera. The underlying mechanism is likely associated with the sex-determination system, and studying this phenomenon should lead to a deeper understanding of both embryonic development and sex determination. The reproductive capabilities of gynandromorphs (hereafter, sex mosaics) remain unclear. We studied gynandromorphy in the Malaysian ant Cardiocondyla kagutsuchi, which has sex mosaics of queens (gynandromorphs; mosaic of queens and winged male) and workers (ergatandromorphs; mosaic of worker and wingless ergatoid male). These sex mosaics were classified into seven morphological categories. Most individuals had more male than female body areas. Behavioral observations revealed that sex mosaics behave more in accordance with the “sex” of their brain than that of the reproductive organs (gaster). Relative DNA quantities showed that both female and male regions contained haploid and diploid nuclei, irrespective of their phenotypic appearance, indicating that external appearance did not reflect internal tissues. Nearly one third of the adults were sex mosaics and they were not infected with Wolbachia. Our results suggest that the production of sex mosaics in this species does not pose a substantial cost to colonies and that the underlying causes are therefore not strongly selected against.

  8. THEMIS Global Mosaics

    Science.gov (United States)

    Gorelick, N. S.; Christensen, P. R.

    2005-12-01

    We have developed techniques to make seamless, controlled global mosaics from the more than 50,000 multi-spectral infrared images of the Mars returned by the THEMIS instrument aboard the Mars Odyssey spacecraft. These images cover more than 95% of the surface at 100m/pixel resolution at both day and night local times. Uncertainties in the position and pointing of the spacecraft, varying local time, and imaging artifacts make creating well-registered mosaics from these datasets a challenging task. In preparation for making global mosaics, many full-resolution regional mosaics have been made. These mosaics typically cover an area 10x10 degrees or smaller, and are constructed from only a few hundred images. To make regional mosaics, individual images are geo-rectified using the USGS ISIS software. This dead-reckoning is sufficient to approximate position to within 400m in cases where the SPICE information was downlinked. Further coregistration of images is handled in two ways: grayscale differences minimization in overlapping regions through integer pixel shifting, or through automatic tie-point generation using a radial symmetry transformation (RST). The RST identifies points within an image that exhibit 4-way symmetry. Martian craters tend to to be very radially symmetric, and the RST can pin-point a crater center to sub-pixel accuracy in both daytime and nighttime images, independent of lighting, time of day, or seasonal effects. Additionally, the RST works well on visible-light images, and in a 1D application, on MOLA tracks, to provide precision tie-points across multiple data sets. The RST often finds many points of symmetry that aren't related to surface features. These "false-hits" are managed using a clustering algorithm that identifies constellations of points that occur in multiple images, independent of scaling or other affine transformations. This technique is able to make use of data in which the "good" tie-points comprise even less than 1% of total

  9. Mosaic Down syndrome and acute lymphoblastic B cell-leukemia. Case report

    Directory of Open Access Journals (Sweden)

    Parra-Baltazar, Isabel Mónica

    2016-10-01

    Full Text Available Down syndrome (DS or trisomy 21 is a constitutional chromosomal abnormality, which may be mosaic in 1 % to 4 % of cases. DS mosaic diagnosis is difficult because most patients have a normal phenotype and show no significant clinical abnormalities. Patients with DS have a higher risk of developing acute leukemia such as acute lymphoblastic leukemia (ALL. We report the case of a 19-year old woman with mosaic trisomy 21 and ALL.

  10. One gene, many phenotypes | Shawky | Egyptian Journal of Medical ...

    African Journals Online (AJOL)

    ... mechanisms underlying genotype-phenotype discrepancies is important, as it will move clinical genetics towards predictive medicine, allowing better selection of therapeutic strategies and individualized counseling of persons affected with genetic disorders. Keywords: Gene, phenotype, mosaicism, epigenetics, pleiotropy ...

  11. Evolutionary relationship of alfalfa mosaic virus with cucumber mosaic virus and brome mosaic virus

    OpenAIRE

    Savithri, HS; Murthy, MRN

    1983-01-01

    The amino acid sequences of the non-structural protein (molecular weight 35,000; 3a protein) from three plant viruses - cucumber mosaic, brome mosaic and alfalfa mosaic have been systematically compared using the partial genomic sequences for these three viruses already available. The 3a protein of cucumber mosaic virus has an amino acid sequence homology of 33.7% with the corresponding protein of brome mosaic virus. A similar protein from alfalfa mosaic virus has a homology of 18.2% and 14.2...

  12. Infantile spasms and pigmentary mosaicism

    DEFF Research Database (Denmark)

    Hansen, Lars K; Bygum, Anette; Krogh, Lotte N

    2010-01-01

    Summary We present a 3-year-old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis of pigmentary mosaicism in a child with infantile spasms may not be easy, as most diagnostic work-up is done in infancy, at a time when...

  13. IMAGE-2006 Mosaic: Product Description

    OpenAIRE

    SOILLE Pierre; BIELSKI Conrad

    2008-01-01

    This report describes the IMAGE-2006 mosaic products. Each product consists of a range of information layers grouped into three categories: base layers, mosaic layers, and quality layers. A mosaic product is available for each coverage and data/country region of interest combination.

  14. Pepino mosaic virus

    NARCIS (Netherlands)

    Vlugt, van der R.A.A.

    2009-01-01

    Pepino mosaic virus (PepMV) is a relatively new plant virus that has become a signifi cant agronomical problem in a relatively short period of time. It is a member of the genus Potexvirus within the family Flexiviridae and is readily mechanically transmissible. It is capable of infecting tomato

  15. Apple mosaic virus

    Science.gov (United States)

    Apple mosaic virus (ApMV), a member of the ilarvirus group, naturally infects Betula, Aesculus, Humulus, and several crop genera in the family Rosaceae (Malus, Prunus, Rosa and Rubus). ApMV was first reported in Rubus in several blackberry and raspberry cultivars in the United States and subsequentl...

  16. Potential of marker-assisted selection for Tobacco mosaic ...

    African Journals Online (AJOL)

    Tobacco mosaic tobamovirus (TMV) is one of the most destructive virus threatening worldwide tobacco production. Use of host resistance is the best method of control. The N-gene was introgressed into tobacco from Nicotiana glutinosa to confer hypersensitive resistance to TMV. Phenotypic selection of TMV resistant ...

  17. Turner/Down mosaicism: A case report | Jansen | South African ...

    African Journals Online (AJOL)

    A 45,X/47,XX, +21 mosaicism (80%:20%) in a young girl with clinical features of Down syndrome is reported. The proportion of 45,X:47,XX, +21 cells present in peripheral lymphocytes does not necessarily have a profound effect on the phenotype. A possible explanation for the occurrence of double aneuploidy is given.

  18. Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

    Science.gov (United States)

    Bernardini, Laura; Sinibaldi, Lorenzo; Ceccarini, Caterina; Novelli, Antonio; Dallapiccola, Bruno

    2005-04-01

    Mosaic autosomal duplications are rare and often result in mental retardation and congenital anomalies. Phenotype is not predictable depending on the chromosomal imbalance involved and the percentage and tissues distribution of unbalanced cells. We report on a young woman carrying a mosaic duplication of chromosome 4p, evaluated because of three abortions due to IUGR and fetal malformation. Mosaic dup(4p) was detected by standard and molecular cytogenetics. Unbalanced cells accounted for about 20 to 30% of nuclei in four examined tissues and did not cause any obvious phenotypic effect. It is likely that mosaic duplications are underascertained because they are not associated with obvious clinical effects in some individuals. Prenatal diagnosis is the method of choice to predict the karyotype in the offspring of subjects carrying mosaic chromosome imbalances.

  19. Mosaic trisomy 8 detected by fibroblasts cultured of skin

    Science.gov (United States)

    Gómez, Ana M; Mora, Lina; Suarez-Obando, Fernando; Moreno, Olga

    2016-01-01

    Introduction: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. Case Description: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. Clinical Findings: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93]. Clinical Relevance: Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome. PMID:27546932

  20. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.

    Directory of Open Access Journals (Sweden)

    Sofie Symoens

    Full Text Available BACKGROUND: The Ehlers-Danlos Syndrome (EDS is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2. Most mutations affect the type V collagen helical domain and lead to a diminished or structurally abnormal type V collagen protein. Remarkably, only two mutations were reported to affect the extended, highly conserved N-propeptide domain, which plays an important role in the regulation of the heterotypic collagen fibril diameter. We identified a novel COL5A1 N-propeptide mutation, resulting in an unusual but severe classic EDS phenotype and a remarkable splicing outcome. METHODOLOGY/PRINCIPAL FINDINGS: We identified a novel COL5A1 N-propeptide acceptor-splice site mutation (IVS6-2A>G, NM_000093.3_c.925-2A>G in a patient with cutaneous features of EDS, severe progressive scoliosis and eye involvement. Two mutant transcripts were identified, one with an exon 7 skip and one in which exon 7 and the upstream exon 6 are deleted. Both transcripts are expressed and secreted into the extracellular matrix, where they can participate in and perturb collagen fibrillogenesis, as illustrated by the presence of dermal collagen cauliflowers. Determination of the order of intron removal and computational analysis showed that simultaneous skipping of exons 6 and 7 is due to the combined effect of delayed splicing of intron 7, altered pre-mRNA secondary structure, low splice site strength and possibly disturbed binding of splicing factors. CONCLUSIONS/SIGNIFICANCE: We report a novel COL5A1 N-propeptide acceptor-splice site mutation in intron 6, which not only affects splicing of the adjacent exon 7, but also causes a splicing error of the upstream exon 6. Our findings add further insights into the COL5A1 splicing order and show for the first time that a single COL5A1 acceptor-splice site

  1. Dry Eye

    Science.gov (United States)

    ... 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 ...

  2. Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.

    Science.gov (United States)

    Balci, Sevim; Tümer, Celal; Karaca, Ciğdem; Bartsch, Oliver

    2011-05-01

    We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, "escape to normal"). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as "compensatory" isodisomy). Copyright © 2011 Wiley-Liss, Inc.

  3. Real-time image mosaicing for medical applications.

    Science.gov (United States)

    Loewke, Kevin E; Camarillo, David B; Jobst, Christopher A; Salisbury, J Kenneth

    2007-01-01

    In this paper we describe the development of a robotically-assisted image mosaicing system for medical applications. The processing occurs in real-time due to a fast initial image alignment provided by robotic position sensing. Near-field imaging, defined by relatively large camera motion, requires translations as well as pan and tilt orientations to be measured. To capture these measurements we use 5-d.o.f. sensing along with a hand-eye calibration to account for sensor offset. This sensor-based approach speeds up the mosaicing, eliminates cumulative errors, and readily handles arbitrary camera motions. Our results have produced visually satisfactory mosaics on a dental model but can be extended to other medical images.

  4. Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics.

    Science.gov (United States)

    Sarkar, R; Marimuthu, K M

    1983-12-01

    This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45,X/46,XX) and Klinefelter mosaics (47,XXY/46,XY) in the light of the degree of mosaicism present in them. It was observed that the severity of the syndrome in Turner mosaics and Klinefelter mosaics increased with the relative increase in the abnormal cell line population.

  5. 45,X/47,XXX Mosaicism and Short Stature.

    Science.gov (United States)

    Everest, Erica; Tsilianidis, Laurie A; Haider, Anzar; Rogers, Douglas G; Raissouni, Nouhad; Schweiger, Bahareh

    2015-01-01

    We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

  6. Eye Allergies

    Science.gov (United States)

    ... 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 ...

  7. Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

    Directory of Open Access Journals (Sweden)

    Marsha R. Mailick

    2018-05-01

    Full Text Available The FMR1 premutation is of increasing interest to the FXS community, as questions about a primary premutation phenotype warrant research attention. 100 FMR1 premutation carrier mothers (mean age = 58; 67–138 CGG repeats of adults with fragile X syndrome were studied with respect to their physical and mental health, motor, and neurocognitive characteristics. We explored the correlates of CGG repeat mosaicism in women with expanded alleles. Mothers provided buccal swabs from which DNA was extracted and the FMR1 CGG genotyping was performed (Amplidex Kit, Asuragen. Mothers were categorized into three groups: Group 1: premutation non-mosaic (n = 45; Group 2: premutation mosaic (n = 41, and Group 3: premutation/full mutation mosaic (n = 14. Group 2 mothers had at least two populations of cells with different allele sizes in the premutation range besides their major expanded allele. Group 3 mothers had a very small population of cells in the full mutation range (>200 CGGs in addition to one or multiple populations of cells with different allele sizes in the premutation range. Machine learning (random forest was used to identify symptoms and conditions that correctly classified mothers with respect to mosaicism; follow-up comparisons were made to characterize the three groups. In categorizing mosaicism, the random forest yielded significantly better classification than random classification, with overall area under the receiver operating characteristic curve (AUROC of 0.737. Among the most important symptoms and conditions that contributed to the classification were anxiety, menopause symptoms, executive functioning limitations, and difficulty walking several blocks, with the women who had full mutation mosaicism (Group 3 unexpectedly having better health. Although only 14 premutation carrier mothers in the present sample also had a small population of full mutation cells, their profile of comparatively better health, mental health, and executive

  8. Connecting eye to eye

    DEFF Research Database (Denmark)

    Dau, Susanne; Rask, Anders Bindslev

    2017-01-01

    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...

  9. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

    Science.gov (United States)

    McMahon, Kelly Q; Papandreou, Apostolos; Ma, Mandy; Barry, Brenda J; Mirzaa, Ghayda M; Dobyns, William B; Scott, Richard H; Trump, Natalie; Kurian, Manju A; Paciorkowski, Alex R

    2015-12-01

    FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. The recurrence risk for de novo mutations in FOXG1-related disorders is assumed to be low. Here, we describe three unrelated sets of full siblings with mutations in FOXG1 (c.515_577del63, c.460dupG, and c.572T > G), representing familial recurrence of the disorder. In one family, we have documented maternal somatic mosaicism for the FOXG1 mutation, and all of the families presumably represent parental gonadal (or germline) mosaicism. To our knowledge, mosaicism has not been previously reported in FOXG1-related disorders. Therefore, this report provides evidence that germline mosaicism for FOXG1 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with FOXG1-related disorders. © 2015 Wiley Periodicals, Inc.

  10. Highest Resolution Gaspra Mosaic

    Science.gov (United States)

    1992-01-01

    This picture of asteroid 951 Gaspra is a mosaic of two images taken by the Galileo spacecraft from a range of 5,300 kilometers (3,300 miles), some 10 minutes before closest approach on October 29, 1991. The Sun is shining from the right; phase angle is 50 degrees. The resolution, about 54 meters/pixel, is the highest for the Gaspra encounter and is about three times better than that in the view released in November 1991. Additional images of Gaspra remain stored on Galileo's tape recorder, awaiting playback in November. Gaspra is an irregular body with dimensions about 19 x 12 x 11 kilometers (12 x 7.5 x 7 miles). The portion illuminated in this view is about 18 kilometers (11 miles) from lower left to upper right. The north pole is located at upper left; Gaspra rotates counterclockwise every 7 hours. The large concavity on the lower right limb is about 6 kilometers (3.7 miles) across, the prominent crater on the terminator, center left, about 1.5 kilometers (1 mile). A striking feature of Gaspra's surface is the abundance of small craters. More than 600 craters, 100-500 meters (330-1650 feet) in diameter are visible here. The number of such small craters compared to larger ones is much greater for Gaspra than for previously studied bodies of comparable size such as the satellites of Mars. Gaspra's very irregular shape suggests that the asteroid was derived from a larger body by nearly catastrophic collisions. Consistent with such a history is the prominence of groove-like linear features, believed to be related to fractures. These linear depressions, 100-300 meters wide and tens of meters deep, are in two crossing groups with slightly different morphology, one group wider and more pitted than the other. Grooves had previously been seen only on Mars's moon Phobos, but were predicted for asteroids as well. Gaspra also shows a variety of enigmatic curved depressions and ridges in the terminator region at left. The Galileo project, whose primary mission is the

  11. Gaspra - Highest Resolution Mosaic

    Science.gov (United States)

    1992-01-01

    This picture of asteroid 951 Gaspra is a mosaic of two images taken by the Galileo spacecraft from a range of 5,300 kilometers (3,300 miles), some 10 minutes before closest approach on October 29, 1991. The Sun is shining from the right; phase angle is 50 degrees. The resolution, about 54 meters/pixel, is the highest for the Gaspra encounter and is about three times better than that in the view released in November 1991. Additional images of Gaspra remain stored on Galileo's tape recorder, awaiting playback in November. Gaspra is an irregular body with dimensions about 19 x 12 x 11 kilometers (12 x 7.5 x 7 miles). The portion illuminated in this view is about 18 kilometers (11 miles) from lower left to upper right. The north pole is located at upper left; Gaspra rotates counterclockwise every 7 hours. The large concavity on the lower right limb is about 6 kilometers (3.7 miles) across, the prominent crater on the terminator, center left, about 1.5 kilometers (1 mile). A striking feature of Gaspra's surface is the abundance of small craters. More than 600 craters, 100-500 meters (330-1650 feet) in diameter are visible here. The number of such small craters compared to larger ones is much greater for Gaspra than for previously studied bodies of comparable size such as the satellites of Mars. Gaspra's very irregular shape suggests that the asteroid was derived from a larger body by nearly catastrophic collisions. Consistent with such a history is the prominence of groove-like linear features, believed to be related to fractures. These linear depressions, 100-300 meters wide and tens of meters deep, are in two crossing groups with slightly different morphology, one group wider and more pitted than the other. Grooves had previously been seen only on Mars's moon Phobos, but were predicted for asteroids as well. Gaspra also shows a variety of enigmatic curved depressions and ridges in the terminator region at left. The Galileo project, whose primary mission is the

  12. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.

    Science.gov (United States)

    Smyk, M; Obersztyn, E; Nowakowska, B; Bocian, E; Cheung, S W; Mazurczak, T; Stankiewicz, P

    2007-04-15

    Haploinsufficiency of SOX9, a master gene in chondrogenesis and testis development, leads to the semi-lethal skeletal malformation syndrome campomelic dysplasia (CD), with or without XY sex reversal. We report on two children with CD and a phenotypically normal father, a carrier of a somatic mosaic SOX9 deletion. This is the first report of a mosaic deletion of SOX9; few familial CD cases with germline and somatic mutation mosaicism have been described. Our findings confirm the utility of aCGH and indicate that for a more accurate estimate of the recurrence risk for a completely penetrant autosomal dominant disorder, parental somatic mosaicism should be considered in healthy parents. Copyright 2007 Wiley-Liss, Inc.

  13. Mosaic VSGs and the scale of Trypanosoma brucei antigenic variation.

    Directory of Open Access Journals (Sweden)

    James P J Hall

    Full Text Available A main determinant of prolonged Trypanosoma brucei infection and transmission and success of the parasite is the interplay between host acquired immunity and antigenic variation of the parasite variant surface glycoprotein (VSG coat. About 0.1% of trypanosome divisions produce a switch to a different VSG through differential expression of an archive of hundreds of silent VSG genes and pseudogenes, but the patterns and extent of the trypanosome diversity phenotype, particularly in chronic infection, are unclear. We applied longitudinal VSG cDNA sequencing to estimate variant richness and test whether pseudogenes contribute to antigenic variation. We show that individual growth peaks can contain at least 15 distinct variants, are estimated computationally to comprise many more, and that antigenically distinct 'mosaic' VSGs arise from segmental gene conversion between donor VSG genes or pseudogenes. The potential for trypanosome antigenic variation is probably much greater than VSG archive size; mosaic VSGs are core to antigenic variation and chronic infection.

  14. Systems considerations in mosaic focal planes

    Science.gov (United States)

    White, K. P., III

    1983-08-01

    Two key reasons for pursuing the development of mosaic focal planes are reviewed and it is shown that rapid frame repetition rate is the only requirement that can be solved no other way than through mosaic focal planes. With the view that spaceborne mosaic focal plane sensors are necessarily 'smart sensors' requiring a lot of onboard processing just to function, it is pointed out that various artificial intelligence techniques may be the most appropriate to incorporate in the data processing. Finally, a novel mosaic focal plane design is proposed, termed a virtual mosaic focal plane, in response to other system constraints.

  15. Mosaic HIV envelope immunogenic polypeptides

    Science.gov (United States)

    Korber, Bette T. M.; Gnanakaran, S.; Perkins, Simon; Sodroski, Joseph; Haynes, Barton

    2018-01-02

    Disclosed herein are mosaic HIV envelope (Env) polypeptides that can elicit an immune response to HIV (such as cytotoxic T cell (CTL), helper T cell, and/or humoral responses). Also disclosed are sets of the disclosed mosaic Env polypeptides, which include two or more (for example, three) of the polypeptides. Also disclosed herein are methods for treating or inhibiting HIV in a subject including administering one or more of the disclosed immunogenic polypeptides or compositions to a subject infected with HIV or at risk of HIV infection. In some embodiments, the methods include inducing an immune response to HIV in a subject comprising administering to the subject at least one (such as two, three, or more) of the immunogenic polypeptides or at least one (such as two, three, or more) nucleic acids encoding at least one of the immunogenic polypeptides disclosed herein.

  16. Eye Protection

    OpenAIRE

    Pashby, Tom

    1986-01-01

    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.

  17. Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human Filamin A (FLNA diseases

    Directory of Open Access Journals (Sweden)

    Douvaras Panagiotis

    2012-02-01

    Full Text Available Abstract Background Some abnormalities of mouse corneal epithelial maintenance can be identified by the atypical mosaic patterns they produce in X-chromosome inactivation mosaics and chimeras. Human FLNA/+ females, heterozygous for X-linked, filamin A gene (FLNA mutations, display a range of disorders and X-inactivation mosaicism is sometimes quantitatively unbalanced. FlnaDilp2/+ mice, heterozygous for an X-linked filamin A (Flna nonsense mutation have variable eye, skeletal and other abnormalities, but X-inactivation mosaicism has not been investigated. The aim of this study was to determine whether X-inactivation mosaicism in the corneal epithelia of FlnaDilp2/+ mice was affected in any way that might predict abnormal corneal epithelial maintenance. Results X-chromosome inactivation mosaicism was studied in the corneal epithelium and a control tissue (liver of FlnaDilp2/+ and wild-type (WT female X-inactivation mosaics, hemizygous for the X-linked, LacZ reporter H253 transgene, using β-galactosidase histochemical staining. The corneal epithelia of FlnaDilp2/+ and WT X-inactivation mosaics showed similar radial, striped patterns, implying epithelial cell movement was not disrupted in FlnaDilp2/+ corneas. Corrected stripe numbers declined with age overall (but not significantly for either genotype individually, consistent with previous reports suggesting an age-related reduction in stem cell function. Corrected stripe numbers were not reduced in FlnaDilp2/+ compared with WT X-inactivation mosaics and mosaicism was not significantly more unbalanced in the corneal epithelia or livers of FlnaDilp2/+ than wild-type Flna+/+ X-inactivation mosaics. Conclusions Mosaic analysis identified no major effect of the mouse FlnaDilp2 mutation on corneal epithelial maintenance or the balance of X-inactivation mosaicism in the corneal epithelium or liver.

  18. Left-sided congenital heart lesions in mosaic Turner syndrome.

    Science.gov (United States)

    Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

    2018-04-01

    In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

  19. Identification of virus isolates inducing mosaic of sugarcane in ...

    African Journals Online (AJOL)

    Sugarcane mosaic disease caused by sugarcane mosaic virus (SCMV), Johnsongrass mosaic virus (JGMV), maize dwarf mosaic virus (MDMV) and sorghum mosaic Virus (SrMV) is an economically important viral disease of sugarcane worldwide. Field survey was conducted to assess the presence of the viruses involve in ...

  20. A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

    Science.gov (United States)

    Kalkan, Rasime; Özdağ, Nermin; Bundak, Rüveyde; Çirakoğlu, Ayşe; Serakinci, Nedime

    2016-01-01

    Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype.

  1. Multichannel Image Mosaicing of Stem Cells

    OpenAIRE

    Alessandro Bevilacqua; Alessandro Gherardi; Filippo Piccinini

    2010-01-01

    Image mosaicing techniques are usually employed to offer researchers a wider field of view of microscopic image of biological samples. a mosaic is commonly achieved using automated microscopes and often with one “color" channel, whether it refers to natural or fluorescent analysis. In this work we present a method to achieve three subsequent mosaics of the same part of a stem cell culture analyzed in phase contrast and in fluorescence, with a common non-automated inverted microscope. The mosa...

  2. Molecular Genetic Studies of Some Eye Diseases Affecting the ...

    Indian Academy of Sciences (India)

    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.

  3. Eye Cancer

    Science.gov (United States)

    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 ...

  4. Black Eye

    Science.gov (United States)

    ... Your Eyes Sep 20, 2017 Eye Injuries from Laundry Packets On the Rise Jun 30, 2017 ... Medical Disclaimer Privacy Policy Terms of Service For Advertisers For Media Ophthalmology Job Center © American ...

  5. Eye Anatomy

    Science.gov (United States)

    ... News About Us Donate In This Section Eye Anatomy en Español email Send this article to a ... You at Risk For Glaucoma? Childhood Glaucoma Eye Anatomy Five Common Glaucoma Tests Glaucoma Facts and Stats ...

  6. Eye Emergencies

    Science.gov (United States)

    ... The Marfan Foundation Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ... Emergencies Eye Emergencies Lung Emergencies Surgeries Eye Emergencies Marfan syndrome significantly increases your risk of retinal detachment, a ...

  7. Your Eyes

    Science.gov (United States)

    ... 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 ...

  8. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

    Science.gov (United States)

    Schneider, Adele; Bardakjian, Tanya; Reis, Linda M; Tyler, Rebecca C; Semina, Elena V

    2009-12-01

    SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes include anophthalmia/microphthalmia (A/M), optic nerve hypoplasia, ocular coloboma and other eye anomalies. We screened 51 unrelated individuals with A/M and identified SOX2 mutations in the coding region of the gene in 10 individuals. Seven of the identified mutations are novel alterations, while the remaining three individuals carry the previously reported recurrent 20-nucleotide deletion in SOX2, c.70del20. Among the SOX2-positive cases, seven patients had bilateral A/M and mutations resulting in premature termination of the normal protein sequence (7/38; 18% of all bilateral cases), one patient had bilateral A/M associated with a single amino acid insertion (1/38; 3% of bilateral cases), and the final two patients demonstrated unilateral A/M associated with missense mutations (2/13; 15% of all unilateral cases). These findings and review of previously reported cases suggest a potential genotype/phenotype correlation for SOX2 mutations with missense changes generally leading to less severe ocular defects. In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified SOX2 mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families.

  9. Occurrence of Cucumber mosaic virus on vanilla

    Indian Academy of Sciences (India)

    Cucumber mosaic virus (CMV) causing mosaic, leaf distortion and stunting of vanilla (Vanilla planifolia Andrews) in India was characterized on the basis of biological and coat protein (CP) nucleotide sequence properties. In mechanical inoculation tests, the virus was found to infect members of Chenopodiaceae, ...

  10. Web Map Services (WMS) Global Mosaic

    Science.gov (United States)

    Percivall, George; Plesea, Lucian

    2003-01-01

    The WMS Global Mosaic provides access to imagery of the global landmass using an open standard for web mapping. The seamless image is a mosaic of Landsat 7 scenes; geographically-accurate with 30 and 15 meter resolutions. By using the OpenGIS Web Map Service (WMS) interface, any organization can use the global mosaic as a layer in their geospatial applications. Based on a trade study, an implementation approach was chosen that extends a previously developed WMS hosting a Landsat 5 CONUS mosaic developed by JPL. The WMS Global Mosaic supports the NASA Geospatial Interoperability Office goal of providing an integrated digital representation of the Earth, widely accessible for humanity's critical decisions.

  11. Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

    Science.gov (United States)

    Posey, Jennifer E; Mohrbacher, Nikki; Smith, Janice L; Patel, Ankita; Potocki, Lorraine; Breman, Amy M

    2016-03-01

    Triploid mosaicism is a rare aneuploidy syndrome characterized by growth retardation, developmental delay, 3-4 syndactyly, microphthalmia, coloboma, cleft lip and/or palate, genitourinary anomalies, and facial or body asymmetry. In the present report, we describe a 3-month-old female presenting with failure to thrive, growth retardation, and developmental delay. A chromosomal microarray demonstrated monosomy X, but her atypical phenotype prompted further evaluation with a chromosome analysis, which demonstrated 45,X/68,XX mixoploidy. To our knowledge, this is the first report of a patient with this chromosome complement. Mosaicism in chromosomal aneuploidies is likely under-recognized and may obscure the clinical diagnosis. At a time when comparative genomic hybridization and genome sequencing are increasingly used as diagnostic tools, this report highlights the clinical utility of chromosome analysis when a molecular diagnosis is not consistent with the observed phenotype. © 2015 Wiley Periodicals, Inc.

  12. Trisomy 9 Mosaicism Diagnosed In Utero

    Directory of Open Access Journals (Sweden)

    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

  13. Diabetes eye exams

    Science.gov (United States)

    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 ...

  14. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

    Science.gov (United States)

    Izumi, Kosuke; Santani, Avni B; Deardorff, Matthew A; Feret, Holly A; Tischler, Tanya; Thiel, Brian D; Mulchandani, Surabhi; Stolle, Catherine A; Spinner, Nancy B; Zackai, Elaine H; Conlin, Laura K

    2013-01-01

    Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15. Various mechanisms including trisomy rescue, monosomy rescue, and post fertilization errors can lead to uniparental disomy, and its mechanism can be inferred from the pattern of uniparental hetero and isodisomy. Detection of a mosaic cell line provides a unique opportunity to understand the mechanism of uniparental disomy; however, mosaic uniparental disomy is a rare finding in patients with Prader-Willi syndrome. We report on two infants with Prader-Willi syndrome caused by mosaic maternal uniparental disomy 15. Patient 1 has mosaic uniparental isodisomy of the entire chromosome 15, and Patient 2 has mosaic uniparental mixed iso/heterodisomy 15. Genome-wide single-nucleotide polymorphism array was able to demonstrate the presence of chromosomally normal cell line in the Patient 1 and trisomic cell line in Patient 2, and provide the evidence that post-fertilization error and trisomy rescue as a mechanism of uniparental disomy in each case, respectively. Given its ability of detecting small percent mosaicism as well as its capability of identifying the loss of heterozygosity of chromosomal regions, genome-wide single-nucleotide polymorphism array should be utilized as an adjunct to the standard methylation analysis in the evaluation of Prader-Willi syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  15. From the Hayflick mosaic to the mosaics of ageing. Role of stress-induced premature senescence in human ageing.

    Science.gov (United States)

    Toussaint, Olivier; Remacle, Jose; Dierick, Jean-François; Pascal, Thierry; Frippiat, Christophe; Zdanov, Stéphanie; Magalhaes, Joao Pedro; Royer, Véronique; Chainiaux, Florence

    2002-11-01

    The Hayflick limit-senescence of proliferative cell types-is a fundamental feature of proliferative cells in vitro. Various human proliferative cell types exposed in vitro to many types of subcytotoxic stresses undergo stress-induced premature senescence (SIPS) (also called stress-induced premature senescence-like phenotype, according to the definition of senescence). The known mechanisms of appearance the main features of SIPS are reviewed: senescent-like morphology, growth arrest, senescence-related changes in gene expression, telomere shortening. Long before telomere-shortening induces senescence, other factors such as culture conditions or lack of 'feeder cells' can trigger either SIPS or prolonged reversible G(0) phase of the cell cycle. In vivo, 'proliferative' cell types of aged individuals are likely to compose a mosaic made of cells irreversibly growth arrested or not. The higher level of stress to which these cells have been exposed throughout their life span, the higher proportion of the cells of this mosaic will be in SIPS rather than in telomere-shortening dependent senescence. All cell types undergoing SIPS in vivo, most notably the ones in stressful conditions, are likely to participate in the tissular changes observed along ageing. For instance, human diploid fibroblasts (HDFs) exposed in vivo and in vitro to pro-inflammatory cytokines display biomarkers of senescence and might participate in the degradation of the extracellular matrix observed in ageing.

  16. Mutants of alfalfa mosaic virus

    International Nuclear Information System (INIS)

    Roosien, J.

    1983-01-01

    In this thesis the isolation and characterization of a number of mutants of alfalfa mosaic virus, a plant virus with a coat protein dependent genome, is described. Thermo-sensitive (ts) mutants were selected since, at least theoretically, ts mutations can be present in all virus coded functions. It was found that a high percentage of spontaneous mutants, isolated because of their aberrant symptoms, were ts. The majority of these isolates could grow at the non-permissive temperature in the presence of a single wild type (wt) component. To increase the mutation rate virus preparations were treated with several mutagens. After nitrous acid treatment or irradiation with ultraviolet light, an increase in the level of mutations was observed. UV irradiation was preferred since it did not require large amounts of purified viral components. During the preliminary characterization of potential ts mutants the author also obtained one structural and several symptom mutants which were analysed further (chapter 7, 8 and 9). The properties of the ts mutants are described in chapter 3-7. (Auth.)

  17. Eye Injuries

    Science.gov (United States)

    ... 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 ...

  18. Eyes - bulging

    Science.gov (United States)

    ... 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. ...

  19. Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.

    Science.gov (United States)

    Kunwar, Fulesh; Pandya, Vidhi; Bakshi, Sonal R

    2016-03-01

    The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical description. Phenotypic features (minor/major abnormalities) were recorded and matched with the Human Phenotype Ontology terms that were used to query web-based tool Phenomizer. We report here a case of 24-year-old girl born to non consanguineous parents with history of one abortion. Her phenotypic evaluation included short columella, low-set ears, seizures, enlarged naris, bifid tongue, infra-orbital fold, smooth philtrum, microtia, microcephaly, carious teeth, downslanted palpebral fissures, proportionate short stature, high palate, thin upper lip vermilion, small for gestational age, broad fingertip, broad hallux, mandibular prognathia and dental malocclusion. Karyotype and interphase FISH (Fluorescence in situ hybridization) was done in blood cells. Interphase FISH was also performed on buccal epithelial cells. Cytogenetic analysis demonstrated trisomy 13 mosaicism in 25% cells i.e. 47, XX,+13(9)/46,XX(27). The interphase FISH in blood cells showed trisomy 13 in 15%, whereas in buccal mucosa cells showed nearly 6%. Mosaic aneuploidy in constitutional karyotype can be responsible for variation in clinical and morphological presentation of patient with genetic disorder.

  20. What Is Dry Eye?

    Medline Plus

    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? ...

  1. What Is Dry Eye?

    Medline Plus

    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? ...

  2. Mosaic convergence of rodent dentitions.

    Directory of Open Access Journals (Sweden)

    Vincent Lazzari

    Full Text Available BACKGROUND: Understanding mechanisms responsible for changes in tooth morphology in the course of evolution is an area of investigation common to both paleontology and developmental biology. Detailed analyses of molar tooth crown shape have shown frequent homoplasia in mammalian evolution, which requires accurate investigation of the evolutionary pathways provided by the fossil record. The necessity of preservation of an effective occlusion has been hypothesized to functionally constrain crown morphological changes and to also facilitate convergent evolution. The Muroidea superfamily constitutes a relevant model for the study of molar crown diversification because it encompasses one third of the extant mammalian biodiversity. METHODOLOGY/PRINCIPAL FINDINGS: Combined microwear and 3D-topographic analyses performed on fossil and extant muroid molars allow for a first quantification of the relationships between changes in crown morphology and functionality of occlusion. Based on an abundant fossil record and on a well resolved phylogeny, our results show that the most derived functional condition associates longitudinal chewing and non interlocking of cusps. This condition has been reached at least 7 times within muroids via two main types of evolutionary pathways each respecting functional continuity. In the first type, the flattening of tooth crown which induces the removal of cusp interlocking occurs before the rotation of the chewing movement. In the second type however, flattening is subsequent to rotation of the chewing movement which can be associated with certain changes in cusp morphology. CONCLUSION/SIGNIFICANCE: The reverse orders of the changes involved in these different pathways reveal a mosaic evolution of mammalian dentition in which direction of chewing and crown shape seem to be partly decoupled. Either can change in respect to strong functional constraints affecting occlusion which thereby limit the number of the possible

  3. Mosaic deletion of 20pter due to rescue by somatic recombination.

    Science.gov (United States)

    Martin, Megan M; Vanzo, Rena J; Sdano, Mallory R; Baxter, Adrianne L; South, Sarah T

    2016-01-01

    We report on a unique case of a mosaic 20pter-p13 deletion due to a somatic repair event identified by allele differentiating single nucleotide polymorphism (SNP) probes on chromosomal microarray. Small terminal deletions of 20p have been reported in a few individuals and appear to result in a variable phenotype. This patient was a 24-month-old female who presented with failure to thrive and speech delay. Chromosomal microarray analysis (CMA) performed on peripheral blood showed a 1.6 Mb deletion involving the terminus of 20p (20pter-20p13). This deletion appeared mosaic by CMA and this suspicion was confirmed by fluorescence in situ hybridization (FISH) analysis. Additionally, the deletion interval at 20p was directly adjacent to 15 Mb of mosaic copy-neutral loss of heterozygosity (LOH). The pattern of SNP probes was highly suggestive of a somatic repair event that resulted in rescue of the deleted region using the non-deleted homologue as a template. Structural mosaicism is rare and most often believed to be due to a postzygotic mechanism. This case demonstrates the additional utility of allele patterns to help distinguish mechanisms and in this case identified the possibility of either a post-zygotic repair of a germline deletion or a post-zygotic deletion with somatic recombination repair in a single step. © 2015 Wiley Periodicals, Inc.

  4. Mosaicism may explain the evolution of social characters in haplodiploid Hymenoptera with female workers.

    Science.gov (United States)

    Morpurgo, Giorgio; Babudri, Nora; Fioretti, Bernard; Catacuzzeno, Luigi

    2010-12-01

    The role of haplodiploidy in the evolution of eusocial insects and why in Hymenoptera males do not perform any work is presently unknown. We show here that within-colony conflict caused by the coexistence of individuals of the same caste expressing the same character in different ways can be fundamental in the evolution of social characters in species that have already reached the eusocial condition. Mosaic colonies, composed by individuals expressing either the wild-type or a mutant phenotype, inevitably occurs during the evolution of advantageous social traits in insects. We simulated the evolution of an advantageous social trait increasing colony fitness in haplodiploid and diplodiploid species considering all possible conditions, i.e. dominance/recessivity of the allele determining the new social character, sex of the castes, and influence of mosaicism on the colony fitness. When mosaicism lowered colony fitness below that of the colony homogeneous for the wild type allele, the fixation of an advantageous social character was possible only in haplodiploids with female castes. When mosaicism caused smaller reductions in colony fitness, reaching frequencies of 90% was much faster in haplodiploids with female castes and dominant mutations. Our results suggest that the evolution of social characters is easier in haplodiploid than in diplodiploid species, provided that workers are females.

  5. Inheritance patterns of new genetic markers and occurrence of spontaneous mosaicism in the monogenic blowfly Chrysomya rufifacies (Diptera:Calliphoridae).

    Science.gov (United States)

    Ullerich, F H

    1996-11-27

    Four new genetic markers for Chrysomya rufifacies, a fly with maternal sex determination, were characterized. The markers include one body colour mutant, black body (bl), and three eye colour mutants, brown eye (br), apricot eye (ap), and red eye (wr). Two of the latter, br and wr, turn out to be sex linked, the others behave as autosomal genes belonging to different linkage groups. wr is a hypomorphic and w an apomorphic mutation of the white gene, w/w is epistatic to br/br and to ap/ap. A preliminary genetic linkage map with the sex realizer F'/f and the loci br and w residing in homomorphic sex chromosomes is established. Evidence is presented that crossing over is absent in the male sex. The possible causes of the spontaneous appearance of mosaics for eye colour observed among individuals heterozygous for recessive genes are discussed.

  6. Normal karyotype mosaicism in adult AML patients with adverse-risk and undefined karyotype: preliminary report of treatment outcomes after hematopoietic stem cell transplantation.

    Science.gov (United States)

    Yoon, Jae-Ho; Kim, Hee-Je; Shin, Seung-Hwan; Yahng, Seung-Ah; Cho, Byung-Sik; Eom, Ki-Seong; Kim, Yoo-Jin; Lee, Seok; Min, Chang-Ki; Cho, Seok-Goo; Kim, Dong-Wook; Lee, Jong-Wook; Min, Woo-Sung; Park, Chong-Won

    2013-06-01

    Karyotype analysis in acute myeloid leukemia (AML) is one of the powerful prognostic factors for complete remission (CR), relapse, and overall survival (OS). Cytogenetic mosaicism is considered to be one of the important characteristics in expression of phenotypic manifestations. However, it has not come into focus due to emerging molecular biological approaches and the results of a number of mutation studies. Clinical correlates and prognostic relevance of mosaicism were evaluated in 163 AML patients [adverse-risk karyotypes (n = 72) and undefined karyotypes (n = 91)]. All patients were treated by induction and consolidation chemotherapies and finally went on hematopoietic stem cell transplantations (HSCT). Patients were divided into two subgroups, either with or without normal karyotype (NK) mosaicism. Seventy patients exhibited NK mosaicism and 93 did not. There were no significant differences in age, gender, chemotherapy cycles to achieve CR, HSCT donor type, source or intensity properties between the two subgroups. We found that NK mosaicism remaining in adverse-risk and undefined karyotype at diagnosis significantly correlates with better OS (p = 0.001) and lower CIR (p = 0.021) rate after HSCT. Our data show that the poor prognostic properties of unfavorable risk karyotype can be overcome to a great extent by allogeneic HSCT and chronic GVHD, especially in the subgroup with NK mosaicism. Cytogenetic mosaicism at initial diagnosis can be an influential factor for survival outcomes, even after HSCT.

  7. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

    Science.gov (United States)

    Batista, Rafael Loch; Rodrigues, Andresa De Santi; Machado, Aline Zamboni; Nishi, Mirian Yumie; Cunha, Flávia Siqueira; Silva, Rosana Barbosa; Costa, Elaine M F; Mendonca, Berenice B; Domenice, Sorahia

    2018-01-26

    Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.

  8. GENERATION OF GEOMETRIC ORNAMENTS IN ANCIENT MOSAIC ART

    Directory of Open Access Journals (Sweden)

    SASS Ludmila

    2015-06-01

    Full Text Available The paper examines geometrical ornaments from ancient mosaic.We studied the geometric generation by using Computer Aided Graphics for three examples of ancient mosaic: a mosaic of Ancient Corinth, a mosaic of the sacred geometry Flower of Life (exposed in the National Museum of Israel and a mosaic of fortress Masada - Israel. The technique of drawing ancient mosaic is recomposed using computer aided graphics. A program has been developed that can help draw a petal-type arc (semicircle of the mosaic that is the Byzantine church of Masada. Based on these mosaics, other variants of aesthetic images in monochrome or black and white and polychrome were drawn, all of which can be materialized in decorative art to embellish various surfaces: walls, floors, pools, fountains, etc.

  9. MONOCLONAL ANTIBODIES TO IDENTIFY TOMATO MOSAIC TOBAMOVIRUS (TOMV

    Directory of Open Access Journals (Sweden)

    Duarte Keila M.R.

    2001-01-01

    Full Text Available Monoclonal antibodies were obtained against Tomato mosaic tobamovirus (ToMV isolated in Brazil. One antibody (8G7G2 isotyped as IgG2b (kappa light chain showed strong specificity and very low cross reaction with the Tobacco mosaic virus (TMV. It can be used in identification of tomato mosaic virus (ToMV.

  10. Eye emergencies

    Science.gov (United States)

    ... eye can be caused by a work-related accident. It can also be caused by common household ... hammers, or other striking tools Working with toxic chemicals Cycling or when in windy and ... A.D.A.M.'s editorial policy , editorial process and privacy policy . A.D.A.M. is ...

  11. Eye Cancer

    Science.gov (United States)

    ... 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 ...

  12. Eye trauma

    African Journals Online (AJOL)

    2011-02-02

    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 ...

  13. MOSAIC: a multiscale model of osteogenesis and sprouting angiogenesis with lateral inhibition of endothelial cells.

    Directory of Open Access Journals (Sweden)

    Aurélie Carlier

    Full Text Available The healing of a fracture depends largely on the development of a new blood vessel network (angiogenesis in the callus. During angiogenesis tip cells lead the developing sprout in response to extracellular signals, amongst which vascular endothelial growth factor (VEGF is critical. In order to ensure a correct development of the vasculature, the balance between stalk and tip cell phenotypes must be tightly controlled, which is primarily achieved by the Dll4-Notch1 signaling pathway. This study presents a novel multiscale model of osteogenesis and sprouting angiogenesis, incorporating lateral inhibition of endothelial cells (further denoted MOSAIC model through Dll4-Notch1 signaling, and applies it to fracture healing. The MOSAIC model correctly predicted the bone regeneration process and recapitulated many experimentally observed aspects of tip cell selection: the salt and pepper pattern seen for cell fates, an increased tip cell density due to the loss of Dll4 and an excessive number of tip cells in high VEGF environments. When VEGF concentration was even further increased, the MOSAIC model predicted the absence of a vascular network and fracture healing, thereby leading to a non-union, which is a direct consequence of the mutual inhibition of neighboring cells through Dll4-Notch1 signaling. This result was not retrieved for a more phenomenological model that only considers extracellular signals for tip cell migration, which illustrates the importance of implementing the actual signaling pathway rather than phenomenological rules. Finally, the MOSAIC model demonstrated the importance of a proper criterion for tip cell selection and the need for experimental data to further explore this. In conclusion, this study demonstrates that the MOSAIC model creates enhanced capabilities for investigating the influence of molecular mechanisms on angiogenesis and its relation to bone formation in a more mechanistic way and across different time and spatial

  14. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

    Energy Technology Data Exchange (ETDEWEB)

    Milunsky, J.M. [Boston Univ. School Med, MA (United States)]|[Tufts-New England Med. Ctr, Boston, MA (United States); Wyandt, H.E.; Amos, J.A. [Boston Univ. School Med., MA (United States)] [and others

    1994-09-01

    We describe a liveborn infant with UPD in association with trisomy 15 mosaicism. Third trimester amniocentesis was performed for suspected IUGR. Results revealed 46,XX/47,XX,+15. The infant initially had respiratory distress and fed poorly. Symmetrical growth retardation, craniofacial dysmorphism, excess nuchal folds, a heart murmur, hypermobile joints, minor limb abnormalities, absent spontaneous movement and an abnormal cry were noted. Further study showed complex heart defects, including VSD and PDA, a left choroid plexus cyst, 13 ribs bilaterally, abnormal optic discs, abnormal visual evoked potentials and abnormal auditory brain stem responses. The infant died at 6 weeks of life from cardio-respiratory complications. Blood chromosomes were normal, 46,XX in 100 cells. Parental blood chromosomes were normal. Skin biopsy revealed 46,XX/47,XX,+15 in 40/50 (80%) cells as did autopsy lung tissue. Molecular analysis of the infant`s blood revealed maternal uniparental heterodisomy for chromosome 15 in the 46,XX cell line. Microsatellite analysis demonstrated that the extra chromosome originated from a maternal meiosis I nondisjunction. To our knowledge, this is the first liveborn infant with mosaic trisomy 15 and UPD in the diploid cells. Trisomy 15, heretofore, has been regarded as nonviable, even in mosaic form. While maternal UPD is associated with the Prader-Willi syndrome phenotype, mosaicism for trisomy 15 has been reported only when confined to the placenta. UPD in this case generally complicated prediction of the phenotype and raises the question whether all cases with UPD 15 should have more than one tissue studied to determine undetected trisomy 15.

  15. Genetics Home Reference: mosaic variegated aneuploidy syndrome

    Science.gov (United States)

    ... In MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at ... InfoSearch: Warburton Anyane Yeboa syndrome KidsHealth from Nemours: Intrauterine Growth Restriction ... mosaic variegated aneuploidy syndrome 1 MalaCards: ...

  16. Retro reflective glass mosaic; Mosaico Vitreo Retrorreflectante

    Energy Technology Data Exchange (ETDEWEB)

    Belda, A.; Orts, M. J.; Viciano, F.; Lucas, F.

    2012-07-01

    Salquisa and Alttoglass have developed a very innovative product : the retro reflective glass mosaic. This new product can be used in both horizontal and vertical signposting and also in interior design and architecture. This particular product has many advantages compare to the traditional methods used for signposting, design or architecture. One of them is that the product is mainly made of glass therefore it can last much longer than paints for example. The used of glass mosaic for civil engineering it is opened up especially for signposting and it contributes to improve visibility at night not only in standard conditions but also in the hard ones such as wind, fog or rain at nighttimes. Higher visibility = higher security. We should remember that a high percentage of accidents occur under rain conditions at night. The glass mosaic is presented in a mesh which allows the use in both plane and curve surfaces in signposting, interior design and architecture. The retro reflective effect last under the water therefore the mosaic can be fixed in ornamental and decorative fountains, swimming pools, etc. Furthermore, the retro reflective effect can also be applied on big size ceramic tiles. This project was developed along with the Institute of Ceramic Technology (ITC), it was supported by the Center for Industrial Technological Development (CDTI) and it is also patented. (Author)

  17. Multicultural Mosaic: A Family Book Club.

    Science.gov (United States)

    Dias-Mitchell, Laurie; Harris, Elizabeth

    2001-01-01

    Authors, a library media specialist and a literature/language arts teacher, both recipients of Theodore R. Sizer Fellowships, describe their joint project, "Multicultural Mosaic: A Family Book Club." Their proposal was to strengthen the home-school connection by establishing a book club accessible to all middle and high school students…

  18. Educating Multicultural Citizens: Melting Pot or Mosaic?

    Science.gov (United States)

    Entwistle, Harold

    2000-01-01

    Explores the educational metaphors of the melting pot (immigrants must assimilate into the mainstream culture) and the cultural mosaic (immigrants should retain their cultural identifies). Focuses on such issues as multiculturalism and justice for immigrants, social cohesion, the notion of cultural relativism, and differing conceptions of culture.…

  19. Document image mosaicing: A novel approach

    Indian Academy of Sciences (India)

    R. Narasimhan (Krishtel eMaging) 1461 1996 Oct 15 13:05:22

    MS received 28 April 2003; revised 22 July 2003. Abstract. ... Hence, document image mosaicing is the process of merging split ..... Case 2: Algorithm 2 is an improved version of algorithm 1 which eliminates the drawbacks of ... One of the authors (PS) thanks the All India Council for Technical Education, New Delhi for.

  20. Design principles and developmental mechanisms underlying retinal mosaics.

    Science.gov (United States)

    Reese, Benjamin E; Keeley, Patrick W

    2015-08-01

    Most structures within the central nervous system (CNS) are composed of different types of neuron that vary in both number and morphology, but relatively little is known about the interplay between these two features, i.e. about the population dynamics of a given cell type. How such arrays of neurons are distributed within a structure, and how they differentiate their dendrites relative to each other, are issues that have recently drawn attention in the invertebrate nervous system, where the genetic and molecular underpinnings of these organizing principles are being revealed in exquisite detail. The retina is one of the few locations where these principles have been extensively studied in the vertebrate CNS, indeed, where the design principles of 'mosaic regularity' and 'uniformity of coverage' were first explicitly defined, quantified, and related to each other. Recent studies have revealed a number of genes that influence the formation of these histotypical features in the retina, including homologues of those invertebrate genes, although close inspection reveals that they do not always mediate comparable developmental processes nor elucidate fundamental design principles. The present review considers just how pervasive these features of 'mosaic regularity' and 'uniform dendritic coverage' are within the mammalian retina, discussing the means by which such features can be assessed in the mature and developing nervous system and examining the limitations associated with those assessments. We then address the extent to which these two design principles co-exist within different populations of neurons, and how they are achieved during development. Finally, we consider the neural phenotypes obtained in mutant nervous systems, to address whether a prospective gene of interest underlies those very design principles. © 2014 The Authors. Biological Reviews © 2014 Cambridge Philosophical Society.

  1. Diabetic Eye Disease

    Science.gov (United States)

    ... 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 ...

  2. About the Eye

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    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- ...

  3. Eye Movement Disorders

    Science.gov (United States)

    ... 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 ...

  4. About the Eye

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    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 ...

  5. Why Do Eyes Water?

    Science.gov (United States)

    ... 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 ...

  6. What Is Dry Eye?

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    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 ...

  7. What Is Dry Eye?

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    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 ...

  8. What Is Dry Eye?

    Science.gov (United States)

    ... 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 ...

  9. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    Directory of Open Access Journals (Sweden)

    Roberto L. P. Mazzaschi

    2014-01-01

    Full Text Available A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

  10. Mosaicism in segmental darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues

    DEFF Research Database (Denmark)

    Harboe, Theresa Larriba; Willems, Patrick; Jespersgaard, Cathrine

    2011-01-01

    Darier disease is an autosomal dominant genodermatosis caused by germline mutations in the ATP2A2 gene. Clinical expression is variable, including rare segmental phenotypes thought to be caused by postzygotic mosaicism. Genetic counseling of segmental Darier patients is complex, as risk of transm......Darier disease is an autosomal dominant genodermatosis caused by germline mutations in the ATP2A2 gene. Clinical expression is variable, including rare segmental phenotypes thought to be caused by postzygotic mosaicism. Genetic counseling of segmental Darier patients is complex, as risk...... of transmitting a nonsegmental phenotype to offspring is of unknown magnitude. We present the first in-depth molecular analysis of a mosaic patient with segmental disease, quantifying proportions of mutated and normal alleles in various tissues. Pyrosequence analysis of DNA from semen, affected and normal skin......, peripheral leukocytes and hair revealed an uneven distribution of the mutated allele, from 14% in semen to 37% in affected skin. We suggest a model for segmental manifestation expression where a threshold number of mutated cells is needed for manifestation development. We further recommend molecular analysis...

  11. Eye Contricks

    Directory of Open Access Journals (Sweden)

    N Wade

    2011-04-01

    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.

  12. Towards Luminescence Dating Of Mosaic Glass

    Science.gov (United States)

    Galli, A.; Martini, M.; Sibila, E.; Villa, I.

    The possibility of dating archaeological glass by means of luminescent techniques has been investigated in recent years, despite the difficulties of this application, mainly linked to the amorphous structure of the material. We focused in particular on mosaic glass, after the encouraging results obtained on byzantine and medieval samples. Further studies were devoted to the comprehension of the luminescent mechanisms in silica glasses, and to the investigation of the relationships between luminescence, colouring or opacifier ions and crystalline phase of the vitreous matrix. The results of a study on the dosimetric characteristics of thermoluminescence (TL) and Optically Stimulated Luminescence (OSL) of a few medieval blue-green mosaic glasses from the San Lorenzo church (Milan) are presented, and the experimental protocols established to identify their suitability for dating are discussed.

  13. Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

    DEFF Research Database (Denmark)

    Alkhayyat, H.; Christesen, Henrik Thybo; Steer, J.

    2006-01-01

    BACKGROUND: A common and well recognised feature of Turner's syndrome (partial or total monosomy X) is impaired glucose tolerance or type 2 diabetes mellitus. A small percentage of patients with Turner's syndrome have a complex mosaic karyotype with atypical clinical features and mental retardation....... METHODS/PATIENT: We report the first case of a child with a complex mosaic Turner genotype and hyperinsulinaemic hypoglycaemia responsive to diazoxide therapy. RESULTS: Cytogenetic analysis showed four cell lines: one with 45,X; the others with an additional small ring chromosome, a small marker...... chromosome, and both the ring and marker chromosomes, respectively. FISH studies showed the abnormal chromosomes to originate from an X. The X inactivation locus (XIST) was present in the ring, but not in the marker chromosome. CONCLUSIONS: The recognition of hypoglycaemia in children with atypical Turner...

  14. Mosaic Turner syndrome associated with schizophrenia.

    Science.gov (United States)

    Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop; Lee, Ji Eun

    2014-03-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

  15. Distribution of Fig Mosaic in Jordan

    OpenAIRE

    Khalil I. Al-Mughrabi; Ghandi H. Anfoka

    2000-01-01

    Fig mosaic (FM) is one of the most important diseases of figs in Jordan. A nationwide survey was conducted to determine the incidence and severity of this disease in trees and in seedlings propagated by cuttings in orchards and nurseries in 13 provinces and cities all over the country. Cultivars surveyed included Khdari, Mwazi, Zraki, Khartamani, Dafoori, Turki, Hamari, Esaili, Ajlouni, in addition to an Italian and a French cultivar. Disease severity varied from moderately severe...

  16. KARAKTERISASICYMBIDIUM MOSAIC VIRUS (CYMMV PADA TANAMAN ANGGREK

    Directory of Open Access Journals (Sweden)

    KHAMDAN KHALIMI

    2012-11-01

    Full Text Available Characterization ofCymbidium mosaic virus (CymMV on Orchid Plant Orchids are affected by more virus disease problems than most crops, reducing their commercial values considerably. Orchid viruses are widespread in cultivated orchids, withCymbidium mosaic potexvirus (CymMV being the most prevalent. CymMV high incidence in cultivated orchids has been attributed to the stability and ease of transmission of this virus through cultural practices. CymMV induces floral and foliar necrosis. The virus also reduce plant vigor and lower flower quality, which affect their economic value. The objective of the research is to characterize the virus causing mosaic or chlorotic and necrotic on orchids in West Java. A reverse transcription-polymerase chain reaction (RT- PCR assays using oligonucleotide primers specific to CymMV were also successfully amplified the regions of the coat protein (CP gene of the virus. Analysis by using sodium dodecyl sulphate- polyacrylamide gel electrophoresis (SDS-PAGE revealed that the virus have a major structural protein with an estimated molecular weight of 28 kDa. Aligments of partial nucleotide sequences of the CP gene displayed 86 to 92% homology to CymMV isolates from other countries.

  17. Reassessing Jacob Strauss and the Mosaic Code

    Directory of Open Access Journals (Sweden)

    Joel McDurmon

    2012-01-01

    Full Text Available This article reviewed claims made by modern scholars Ford Lewis Battles, G.H. Williams, and Theodore Tappert concerning the views of Jacob Strauss (1480–1530, court preacher at Eisenach, particularly in regard to the imposition of Mosaic Law upon the civil realm. Most pointedly, Battles claims Strauss proposed to replace European civil law completely with the ‘entire Mosaic code’. This study examined Strauss’s relevant writings to determine his position on Mosaic Law and civil law and demonstrated that the claims of Battles, Williams, and Tappert were not supported by the primary source evidence. Selections from Strauss’ 51 theses on usury are translated into English for the first time. To a much lesser degree, this study addressed the issue in regard to the Weimar court preacher Wolfgang Stein, against whom the same claims were made. A paucity of evidence rendered those claims dubious in his case. In the end we were left only with unsubstantiated second-hand claims against these men.

  18. Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias.

    Science.gov (United States)

    Miyado, Mami; Muroya, Koji; Katsumi, Momori; Saito, Kazuki; Kon, Masafumi; Fukami, Maki

    2018-04-07

    Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]/46,X,idic(Y)[7]/46,XY[8] karyotype. MLPA showed a mosaic deletion involving PPP1R12BP1 and RBMY2DP. The idic(Y) was likely to have been formed through aberrant recombination between P1 palindromes and subsequently underwent mosaic loss. The patient's phenotype was attributable to deletion of some Y chromosomal genes and/or mosaic loss of chromosome Y (mLOY). The results suggest that idic(Y) can originate in postzygotic cells via palindrome-mediated crossovers. Moreover, our data indicate that somatically acquired idic(Y) can trigger mLOY, which usually appears as an aging-related phenomenon in elderly men. © 2018 S. Karger AG, Basel.

  19. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

    Science.gov (United States)

    Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

    2014-04-02

    Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

  20. Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

    Directory of Open Access Journals (Sweden)

    Fang Jye-Siung

    2011-02-01

    Full Text Available Abstract Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7. Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding. Interpretation This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

  1. What Is Dry Eye?

    Medline Plus

    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 ...

  2. What Is Dry Eye?

    Medline Plus

    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 ...

  3. Bags Under Eyes

    Science.gov (United States)

    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 ...

  4. About the Eye

    Medline Plus

    Full Text Available ... Ask a Scientist Video Series Glossary The Visual System Your Eyes’ Natural Defenses Eye Health and Safety First Aid Tips Healthy Vision Tips Protective Eyewear Sports and Your Eyes Fun Stuff Cool Eye Tricks Links to More Information Optical Illusions Printables About the Eye Your eyes ...

  5. The Contribution of Mosaic Variants to Autism Spectrum Disorder.

    Science.gov (United States)

    Freed, Donald; Pevsner, Jonathan

    2016-09-01

    De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the contribution of post-zygotic mutation to ASD is poorly characterized. We performed both exome sequencing of paired samples and analysis of de novo variants from whole-exome sequencing of 2,388 families. While we find little evidence for tissue-specific mosaic mutation, multi-tissue post-zygotic mutation (i.e. mosaicism) is frequent, with detectable mosaic variation comprising 5.4% of all de novo mutations. We identify three mosaic missense and likely-gene disrupting mutations in genes previously implicated in ASD (KMT2C, NCKAP1, and MYH10) in probands but none in siblings. We find a strong ascertainment bias for mosaic mutations in probands relative to their unaffected siblings (p = 0.003). We build a model of de novo variation incorporating mosaic variants and errors in classification of mosaic status and from this model we estimate that 33% of mosaic mutations in probands contribute to 5.1% of simplex ASD diagnoses (95% credible interval 1.3% to 8.9%). Our results indicate a contributory role for multi-tissue mosaic mutation in some individuals with an ASD diagnosis.

  6. The Contribution of Mosaic Variants to Autism Spectrum Disorder.

    Directory of Open Access Journals (Sweden)

    Donald Freed

    2016-09-01

    Full Text Available De novo mutation is highly implicated in autism spectrum disorder (ASD. However, the contribution of post-zygotic mutation to ASD is poorly characterized. We performed both exome sequencing of paired samples and analysis of de novo variants from whole-exome sequencing of 2,388 families. While we find little evidence for tissue-specific mosaic mutation, multi-tissue post-zygotic mutation (i.e. mosaicism is frequent, with detectable mosaic variation comprising 5.4% of all de novo mutations. We identify three mosaic missense and likely-gene disrupting mutations in genes previously implicated in ASD (KMT2C, NCKAP1, and MYH10 in probands but none in siblings. We find a strong ascertainment bias for mosaic mutations in probands relative to their unaffected siblings (p = 0.003. We build a model of de novo variation incorporating mosaic variants and errors in classification of mosaic status and from this model we estimate that 33% of mosaic mutations in probands contribute to 5.1% of simplex ASD diagnoses (95% credible interval 1.3% to 8.9%. Our results indicate a contributory role for multi-tissue mosaic mutation in some individuals with an ASD diagnosis.

  7. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.

    Science.gov (United States)

    Chen, H; Tuck-Muller, C M; Batista, D A; Wertelecki, W

    1995-03-27

    We report on a 15-year-old black boy with severe mental retardation, multiple congenital anomalies, and a supernumerary ring chromosome mosaicism. Fluorescence in situ hybridization with a chromosome 1 painting probe (pBS1) identified the ring as derived from chromosome 1. The karyotype was 46,XY/47,XY,+r(1)(p13q23). A review showed 8 reports of ring chromosome 1. In 5 cases, the patients had a non-supernumerary ring chromosome 1 resulting in partial monosomies of the short and/or long arm of chromosome 1. In 3 cases, the presence of a supernumerary ring resulted in partial trisomy of different segments of chromosome 1. In one of these cases the supernumerary ring was composed primarily of the centromere and the heterochromatic region of chromosome 1, resulting in normal phenotype. Our patient represents the third report of a supernumerary ring chromosome 1 resulting in abnormal phenotype.

  8. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

    Science.gov (United States)

    Bartnik, Magdalena; Derwińska, Katarzyna; Gos, Monika; Obersztyn, Ewa; Kołodziejska, Katarzyna E; Erez, Ayelet; Szpecht-Potocka, Agnieszka; Fang, Ping; Terczyńska, Iwona; Mierzewska, Hanna; Lohr, Naomi J; Bellus, Gary A; Reimschisel, Tyler; Bocian, Ewa; Mazurczak, Tadeusz; Cheung, Sau Wai; Stankiewicz, Paweł

    2011-05-01

    Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2. The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenotype. We attempted to assess the role of mosaic intragenic copy number variation in CDKL5. We have used comparative genomic hybridization with a custom-designed clinical oligonucleotide array targeting exons of selected disease and candidate genes, including CDKL5. We have identified mosaic exonic deletions of CDKL5 in one male and two females with developmental delay and medically intractable seizures. These three mosaic changes represent 60% of all deletions detected in 12,000 patients analyzed by array comparative genomic hybridization and involving the exonic portion of CDKL5. We report the first case of an exonic deletion of CDKL5 in a male and emphasize the importance of underappreciated mosaic exonic copy number variation in patients with early-onset seizures and RTT-like features of both genders.

  9. About the Eye

    Medline Plus

    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 ...

  10. About the Eye

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    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 ...

  11. Fluorescein eye stain

    Science.gov (United States)

    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)

  12. What Is Dry Eye?

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    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- ...

  13. What Is Dry Eye?

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    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 ...

  14. What Is Dry Eye?

    Medline Plus

    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 ...

  15. Eye Injuries at Work

    Science.gov (United States)

    ... 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 ...

  16. EyeGENE

    Data.gov (United States)

    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...

  17. JERS-1 Synthetic Aperture Radar, 1- km Mosaic, Amazon Basin: 1995-1996

    Data.gov (United States)

    National Aeronautics and Space Administration — ABSTRACT: This data set contains two image mosaics of L-band radar backscatter and two image mosaics of first order texture. The two backscatter images are mosaics...

  18. Geographic mosaic of plant evolution: extrafloral nectary variation mediated by ant and herbivore assemblages.

    Directory of Open Access Journals (Sweden)

    Anselmo Nogueira

    Full Text Available Herbivory is an ecological process that is known to generate different patterns of selection on defensive plant traits across populations. Studies on this topic could greatly benefit from the general framework of the Geographic Mosaic Theory of Coevolution (GMT. Here, we hypothesize that herbivory represents a strong pressure for extrafloral nectary (EFN bearing plants, with differences in herbivore and ant visitor assemblages leading to different evolutionary pressures among localities and ultimately to differences in EFN abundance and function. In this study, we investigate this hypothesis by analyzing 10 populations of Anemopaegma album (30 individuals per population distributed through ca. 600 km of Neotropical savanna and covering most of the geographic range of this plant species. A common garden experiment revealed a phenotypic differentiation in EFN abundance, in which field and experimental plants showed a similar pattern of EFN variation among populations. We also did not find significant correlations between EFN traits and ant abundance, herbivory and plant performance across localities. Instead, a more complex pattern of ant-EFN variation, a geographic mosaic, emerged throughout the geographical range of A. album. We modeled the functional relationship between EFNs and ant traits across ant species and extended this phenotypic interface to characterize local situations of phenotypic matching and mismatching at the population level. Two distinct types of phenotypic matching emerged throughout populations: (1 a population with smaller ants (Crematogaster crinosa matched with low abundance of EFNs; and (2 seven populations with bigger ants (Camponotus species matched with higher EFN abundances. Three matched populations showed the highest plant performance and narrower variance of EFN abundance, representing potential plant evolutionary hotspots. Cases of mismatched and matched populations with the lowest performance were associated

  19. Epistatic determinism of durum wheat resistance to the wheat spindle streak mosaic virus.

    Science.gov (United States)

    Holtz, Yan; Bonnefoy, Michel; Viader, Véronique; Ardisson, Morgane; Rode, Nicolas O; Poux, Gérard; Roumet, Pierre; Marie-Jeanne, Véronique; Ranwez, Vincent; Santoni, Sylvain; Gouache, David; David, Jacques L

    2017-07-01

    The resistance of durum wheat to the Wheat spindle streak mosaic virus (WSSMV) is controlled by two main QTLs on chromosomes 7A and 7B, with a huge epistatic effect. Wheat spindle streak mosaic virus (WSSMV) is a major disease of durum wheat in Europe and North America. Breeding WSSMV-resistant cultivars is currently the only way to control the virus since no treatment is available. This paper reports studies of the inheritance of WSSMV resistance using two related durum wheat populations obtained by crossing two elite cultivars with a WSSMV-resistant emmer cultivar. In 2012 and 2015, 354 recombinant inbred lines (RIL) were phenotyped using visual notations, ELISA and qPCR and genotyped using locus targeted capture and sequencing. This allowed us to build a consensus genetic map of 8568 markers and identify three chromosomal regions involved in WSSMV resistance. Two major regions (located on chromosomes 7A and 7B) jointly explain, on the basis of epistatic interactions, up to 43% of the phenotypic variation. Flanking sequences of our genetic markers are provided to facilitate future marker-assisted selection of WSSMV-resistant cultivars.

  20. Mosaic crystal algorithm for Monte Carlo simulations

    CERN Document Server

    Seeger, P A

    2002-01-01

    An algorithm is presented for calculating reflectivity, absorption, and scattering of mosaic crystals in Monte Carlo simulations of neutron instruments. The algorithm uses multi-step transport through the crystal with an exact solution of the Darwin equations at each step. It relies on the kinematical model for Bragg reflection (with parameters adjusted to reproduce experimental data). For computation of thermal effects (the Debye-Waller factor and coherent inelastic scattering), an expansion of the Debye integral as a rapidly converging series of exponential terms is also presented. Any crystal geometry and plane orientation may be treated. The algorithm has been incorporated into the neutron instrument simulation package NISP. (orig.)

  1. Identification of virus isolates inducing mosaic of sugarcane in ...

    African Journals Online (AJOL)

    SAM

    2014-03-19

    Mar 19, 2014 ... (JGMV), maize dwarf mosaic virus (MDMV) and sorghum mosaic Virus (SrMV) is an economically important viral disease of sugarcane ... race (“Bahausa”) and the least infected was the white land race (“fararkwama”). ... stripes symptoms on leaf blade and white stripe on stem in infected sugarcane and are ...

  2. Chromosomal mosaicism in human preimplantation embryos: a systematic review.

    NARCIS (Netherlands)

    Echten-Arends, J. van; Mastenbroek, S.; Sikkema-Raddatz, B.; Korevaar, J.C.; Heineman, M.J.; Veen, F. van der; Repping, S.

    2011-01-01

    BACKGROUND: Although chromosomal mosaicism in human preimplantation embryos has been described for almost two decades, its exact prevalence is still unknown. The prevalence of mosaicism is important in the context of preimplantation genetic screening in which the chromosomal status of an embryo is

  3. Chromosomal mosaicism in human preimplantation embryos : a systematic review

    NARCIS (Netherlands)

    van Echten-Arends, Jannie; Mastenbroek, Sebastiaan; Sikkema-Raddatz, Birgit; Korevaar, Johanna C.; Heineman, Maas Jan; van der Veen, Fulco; Repping, Sjoerd

    2011-01-01

    BACKGROUND: Although chromosomal mosaicism in human preimplantation embryos has been described for almost two decades, its exact prevalence is still unknown. The prevalence of mosaicism is important in the context of preimplantation genetic screening in which the chromosomal status of an embryo is

  4. Status of cassava mosaic disease and whitefly population in Zambia ...

    African Journals Online (AJOL)

    Cassava mosaic disease is the most important disease affecting cassava in Zambia. A study was conducted through a survey to determine the status of cassava mosaic disease incidence, severity and whitefly abundance in farmers' fields in six provinces: Lusaka, Northern, North-Western, Luapula, Eastern and Western ...

  5. Mosaic model for sensorimotor learning and control.

    Science.gov (United States)

    Haruno, M; Wolpert, D M; Kawato, M

    2001-10-01

    Humans demonstrate a remarkable ability to generate accurate and appropriate motor behavior under many different and often uncertain environmental conditions. We previously proposed a new modular architecture, the modular selection and identification for control (MOSAIC) model, for motor learning and control based on multiple pairs of forward (predictor) and inverse (controller) models. The architecture simultaneously learns the multiple inverse models necessary for control as well as how to select the set of inverse models appropriate for a given environment. It combines both feedforward and feedback sensorimotor information so that the controllers can be selected both prior to movement and subsequently during movement. This article extends and evaluates the MOSAIC architecture in the following respects. The learning in the architecture was implemented by both the original gradient-descent method and the expectation-maximization (EM) algorithm. Unlike gradient descent, the newly derived EM algorithm is robust to the initial starting conditions and learning parameters. Second, simulations of an object manipulation task prove that the architecture can learn to manipulate multiple objects and switch between them appropriately. Moreover, after learning, the model shows generalization to novel objects whose dynamics lie within the polyhedra of already learned dynamics. Finally, when each of the dynamics is associated with a particular object shape, the model is able to select the appropriate controller before movement execution. When presented with a novel shape-dynamic pairing, inappropriate activation of modules is observed followed by on-line correction.

  6. Images of photoreceptors in living primate eyes using adaptive optics two-photon ophthalmoscopy

    Science.gov (United States)

    Hunter, Jennifer J.; Masella, Benjamin; Dubra, Alfredo; Sharma, Robin; Yin, Lu; Merigan, William H.; Palczewska, Grazyna; Palczewski, Krzysztof; Williams, David R.

    2011-01-01

    In vivo two-photon imaging through the pupil of the primate eye has the potential to become a useful tool for functional imaging of the retina. Two-photon excited fluorescence images of the macaque cone mosaic were obtained using a fluorescence adaptive optics scanning laser ophthalmoscope, overcoming the challenges of a low numerical aperture, imperfect optics of the eye, high required light levels, and eye motion. Although the specific fluorophores are as yet unknown, strong in vivo intrinsic fluorescence allowed images of the cone mosaic. Imaging intact ex vivo retina revealed that the strongest two-photon excited fluorescence signal comes from the cone inner segments. The fluorescence response increased following light stimulation, which could provide a functional measure of the effects of light on photoreceptors. PMID:21326644

  7. 40 CFR 174.514 - Coat Protein of Watermelon Mosaic Virus-2 and Zucchini Yellow Mosaic Virus; exemption from the...

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 23 2010-07-01 2010-07-01 false Coat Protein of Watermelon Mosaic Virus-2 and Zucchini Yellow Mosaic Virus; exemption from the requirement for a tolerance. 174.514 Section 174.514 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) PESTICIDE PROGRAMS PROCEDURES AND REQUIREMENTS FOR PLANT-INCORPORATED...

  8. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    Science.gov (United States)

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  9. Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bischoff, F.Z.; McCaskill, C.; Subramanian, S. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Beckwith-Wiedemann Syndrome (BWS) is characterized by numerous growth abnormalities including exomphalos, macroglossia, gigantism, and hemihypertrophy or hemihyperplasia. The {open_quotes}BWS gene{close_quotes} appears to be maternally repressed and is suspected to function as a growth factor or regulator of somatic growth, since activation of this gene through a variety of mechanisms appears to result in somatic overgrowth and tumor development. Mosaic paternal isodisomy of 11p has been observed previously by others in patients with BWS by Southern blot analysis of genomic DNA. The interpretation of these results was primarily based on the intensities of the hybridization signals for the different alleles. In our study, we demonstrate somatic mosaicism directly through PCR and single cell analysis. Peripheral blood was obtained from a patient with BWS and initial genomic DNA analysis by PCR was suggestive of somatic mosaicism for paternal isodisomy of 11p. Through micromanipulation, single cells were isolated and subjected to primer extention preamplification. Locus-specific microsatellite marker analyses by PCR were performed to determine the chromosome 11 origins in the preamplified individual cells. Two populations of cells were detected, a population of cells with normal biparental inheritance and a population of cells with paternal isodisomy of 11p and biparental disomy of 11q. Using the powerful approach of single cell analysis, the detected somatic mosaicism provides evidence for a mitotic recombinational event that has resulted in loss of the maternal 11p region and gain of a second copy of paternal 11p in some cells. The direct demonstration of mosaicism may explain the variable phenotypes and hemihypertrophy often observed in BWS.

  10. High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

    Science.gov (United States)

    Out, Astrid A; van Minderhout, Ivonne J H M; van der Stoep, Nienke; van Bommel, Lysette S R; Kluijt, Irma; Aalfs, Cora; Voorendt, Marsha; Vossen, Rolf H A M; Nielsen, Maartje; Vasen, Hans F A; Morreau, Hans; Devilee, Peter; Tops, Carli M J; Hes, Frederik J

    2015-06-01

    Familial adenomatous polyposis is most frequently caused by pathogenic variants in either the APC gene or the MUTYH gene. The detection rate of pathogenic variants depends on the severity of the phenotype and sensitivity of the screening method, including sensitivity for mosaic variants. For 171 patients with multiple colorectal polyps without previously detectable pathogenic variant, APC was reanalyzed in leukocyte DNA by one uniform technique: high-resolution melting (HRM) analysis. Serial dilution of heterozygous DNA resulted in a lowest detectable allelic fraction of 6% for the majority of variants. HRM analysis and subsequent sequencing detected pathogenic fully heterozygous APC variants in 10 (6%) of the patients and pathogenic mosaic variants in 2 (1%). All these variants were previously missed by various conventional scanning methods. In parallel, HRM APC scanning was applied to DNA isolated from polyp tissue of two additional patients with apparently sporadic polyposis and without detectable pathogenic APC variant in leukocyte DNA. In both patients a pathogenic mosaic APC variant was present in multiple polyps. The detection of pathogenic APC variants in 7% of the patients, including mosaics, illustrates the usefulness of a complete APC gene reanalysis of previously tested patients, by a supplementary scanning method. HRM is a sensitive and fast pre-screening method for reliable detection of heterozygous and mosaic variants, which can be applied to leukocyte and polyp derived DNA.

  11. Sensitive radioimmunosorbent assay for the detection of plant viruses. [Cauliflower mosaic virus, lettuce mosaic virus

    Energy Technology Data Exchange (ETDEWEB)

    Ghabrial, S A; Shepherd, R J [Kentucky Univ., Lexington (USA); California Univ., Davis (USA))

    1980-06-01

    A simple and highly sensitive radioimmunosorbent assay (RISA) for the detection of plant viruses is described. The RISA procedure is a microplate method based on the principle of 'double-antibody sandwich' and follows essentially the protocol of the enzyme-linked immunosorbent assay (ELISA) (Clark and Adams, 1977), with the exception that /sup 125/I-labelled ..gamma..-globulin is substituted for the ..gamma..-globulin enzyme conjugate; the bound /sup 125/I-..gamma..-globulin is dissociated by acidification from the double-antibody sandwich. The radioactivity is proportional to virus concentration, and cauliflower mosaic virus (CaMV) and lettuce mosaic virus (LMV) could be detected at concentrations as low as 5 and 2 ng/ml, respectively. Direct evidence of the adverse effects of conjugation with enzyme on the binding abilities of antibodies is presented. The RISA procedure should prove valuable with viruses for which the ELISA values are too low to be dependable.

  12. The fly's eye camera system

    Science.gov (United States)

    Mészáros, L.; Pál, A.; Csépány, G.; Jaskó, A.; Vida, K.; Oláh, K.; Mezö, G.

    2014-12-01

    We introduce the Fly's Eye Camera System, an all-sky monitoring device intended to perform time domain astronomy. This camera system design will provide complementary data sets for other synoptic sky surveys such as LSST or Pan-STARRS. The effective field of view is obtained by 19 cameras arranged in a spherical mosaic form. These individual cameras of the device stand on a hexapod mount that is fully capable of achieving sidereal tracking for the subsequent exposures. This platform has many advantages. First of all it requires only one type of moving component and does not include unique parts. Hence this design not only eliminates problems implied by unique elements, but the redundancy of the hexapod allows smooth operations even if one or two of the legs are stuck. In addition, it can calibrate itself by observed stars independently from both the geographical location (including northen and southern hemisphere) and the polar alignment of the full mount. All mechanical elements and electronics are designed within the confines of our institute Konkoly Observatory. Currently, our instrument is in testing phase with an operating hexapod and reduced number of cameras.

  13. Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

    Energy Technology Data Exchange (ETDEWEB)

    Dobkin, C.S.; Nolin, S.L.; Cohen, I. [NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY (United States)] [and others

    1996-08-09

    The fragile X mutation is diagnosed from the structure of the FMR1 gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both a {open_quotes}full mutation{close_quotes} allele from which there is no gene expression and a {open_quotes}premutation{close_quotes} allele which has normal gene expression. We compared the DNA in blood cells and skin fibroblasts from four mosaic fragile X males to see if there was a difference in the relative amounts of premutation and full mutation alleles within the tissues of these individuals. Two of these males showed striking differences in the ratio of premutation to full mutation in different tissues while the other two showed only slight differences. These observations conform with the widely accepted hypothesis that the fragile X CGG repeat is unstable in somatic tissue during early embryogenesis. Accordingly, the mosaicism in brain and skin, which are both ectodermal in origin, may be similar to each other but different from blood which is not ectodermal in origin. Thus, the ratio of full mutation to premutation allele in skin fibroblasts might be a better indicator of psychological impairment than the ratio in blood cells. 24 refs., 4 figs., 1 tab.

  14. Solar Mosaic Inc. Mosaic Home Solar Loan SunShot 9 Final Report

    Energy Technology Data Exchange (ETDEWEB)

    Walsh, Colin James [Solar Mosaic Inc., Oakland, CA (United States)

    2017-02-09

    The 6686 Mosaic SunShot award has helped Solar Mosaic Inc to progress from an early stage startup focused on commercial crowdfunding to a leading multi-state residential solar lender. The software platform is now used by the majority of the nation's top solar installers and offers a variety of simple home solar loans. Mosaic is has originated approximately $1Bil in solar loans to date to put solar on over 35k rooftops. The company now lends to homeowners with a wide range of credit scores across multiple states and mitigates boundaries preventing them from profiting from ownership of a home solar system. The project included milestones in 5 main categories: 1. Lending to homeowners outside of CA 2. Lending to homeowners with FICO scores under 700 3. Packaging O&M with the home solar loan 4. Allowing residential installers to process home solar loans via API 5. Lowering customer acquisition costs below $1500 This report includes a detailed review of the final results achieved and key findings.

  15. Colorimetric detection of Cucumber green mottle mosaic virus using unmodified gold nanoparticles as colorimetric probes.

    Science.gov (United States)

    Wang, Lin; Liu, Zhanmin; Xia, Xueying; Yang, Cuiyun; Huang, Junyi; Wan, Sibao

    2017-05-01

    Cucumber green mottle mosaic virus (CGMMV)causes a severe mosaic symptom of watermelon and cucumber, and can be transmitted via infected cucumber seeds, leaves and soil. It remains a challenge to detect this virus to prevent its introduction and infection and spread in fields. For this purpose, a simple and sensitive label-free colorimetric detection method for CGMMV has been developed with unmodified gold nanoparticles (AuNPs) as colorimetric probes. The method is based on the finding that the presence of RT-PCR target products of CGMMV and species-specific probes results in color change of AuNPs from red to blue after NaCl induction. Normally, species-specific probes attach to the surface of AuNPs and thereby increasing their resistance to NaCl-induced aggregation. The concentration of sodium, probes in the reaction system and evaluation of specificity and sensitivity of a novel assay, visual detection of Cucumber green mottle mosaic virus using unmodified AuNPs has been carried out with simple preparation of samples in our study. Through this assay, as low as 30pg/μL of CGMMV RNA was thus detected visually, by the naked eye, without the need for any sophisticated, expensive instrumentation and biochemical reagents. The specificity was 100% and exhibited good reproducibility in our assays. The results note that this assay is highly species-specific, simple, low-cost, and visual for easy detection of CGMMV in plant tissues. Therefore, visual assay is a potentially useful tool for middle or small-scales corporations and entry-exit inspection and quarantine bureau to detect CGMMV in cucumber seeds or plant tissues. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. SPECIFICITY OF THE PRECIPITIN REACTION IN TOBACCO MOSAIC DISEASE.

    Science.gov (United States)

    Beale, H P

    1931-09-30

    1. Leaf extracts of Sudan grass, Hippeastrum equestre Herb., lily, and Abutilon striatum Dicks. (A. Thompsoni hort.), each affected with its respective mosaic disease, and peach affected with yellows disease, were tested for their ability to precipitate antiserum for virus extract of tobacco mosaic disease. No precipitate occurred. 2. Nicotiana glutinosa L., N. rustica L., and Martynia louisiana Mill. were added to the list of hosts of tobacco mosaic virus which have been tested with antiserum for the same virus in N. tabacum L. var. Turkish. The object was to determine the presence or absence of material reacting with the specific precipitins such as that already demonstrated in extracts of tomato, pepper, and petunia affected with the same virus. The presence of specific substances was demonstrated in every case. 3. The viruses of ringspot and cucumber mosaic diseases were multiplied in Turkish tobacco and leaf extracts of the affected plants were used in turn as antigens in precipitin tests with antiserum for tobacco mosaic virus extract of Turkish tobacco. A slight precipitation resulted in the tubes containing undiluted antiserum and virus extract such as occurs when juice from normal tobacco is used with undiluted antiserum. No precipitate was demonstrable that was specific for virus extracts of tobacco affected with either ringspot or cucumber mosaic disease. 4. The results favor the interpretation that the specific antigenic substance in virus extract of tobacco mosaic disease is foreign antigenic material, possibly virus itself, not altered host protein.

  17. Maternal XX/X chromosome mosaicism in donor oocyte in vitro fertilization (IVF

    Directory of Open Access Journals (Sweden)

    Paul R. Brezina

    2012-06-01

    Results: The rates of maternal X chromosome mosaicism noted in the cycles from women with miscarriages (3%, 4%, 4%, and 6% were not statistically different from cycles in TS-Mosaic women with normal deliveries (3% and 11%. These data suggest that the rate of maternal X chromosome mosaicism does not affect pregnancy loss rates in TS-Mosaic women undergoing donor oocyte IVF.

  18. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism

    Directory of Open Access Journals (Sweden)

    Jonathan Lévy

    2013-01-01

    Full Text Available Ectrodactyly or split hand and foot malformations (SHFMs are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.

  19. Developing twenty-first century skills: insights from an intensive interdisciplinary workshop Mosaic of Life

    Directory of Open Access Journals (Sweden)

    Tamara Milosevic

    2013-11-01

    Full Text Available The Baltic Sea, one of the world’s largest semi-enclosed seas, which, with its very low salinity and quasi-isolation from the big oceans cannot decide whether it is a sea or a large lake. This geologically-unique environment supports an even more surprising and delicate marine ecosystem, where a complex community of fishes, marine mammals and important microscopic organisms creates a magical mosaic of life. Humans have enjoyed the abundance of life in the Baltic Sea for thousands of years, and major Scandinavian and Baltic cities have oriented themselves towards this geo-ecosystem in order to develop and seek ecological, economical and cultural inspiration and wealth. The ‘Mosaic of Life’ workshop aimed at going beyond the obvious in examining the meaning of the Baltic Sea by gathering together a selection of young, creative minds from different backgrounds ranging from the arts and economics to geology and life sciences. This intensive workshop was designed as a unique training opportunity to develop essential twenty-first century skills – to introduce and develop creative, critical and interdisciplinary thinking and collaborative teamwork, as well as to foster a visual and scientific literacy, using project-based learning and hands-on activities. Our final goal has been to be inspired by the resulting connections, differences and unifying concepts, creating innovative, interdisciplinary projects which would look further than the sea – further than the eye can see and further into the future.

  20. Identification of an attenuated barley stripe mosaic virus for the virus-induced gene silencing of pathogenesis-related wheat genes

    OpenAIRE

    Buhrow, Leann M.; Clark, Shawn M.; Loewen, Michele C.

    2016-01-01

    Background Virus-induced gene silencing (VIGS) has become an emerging technology for the rapid, efficient functional genomic screening of monocot and dicot species. The barley stripe mosaic virus (BSMV) has been described as an effective VIGS vehicle for the evaluation of genes involved in wheat and barley phytopathogenesis; however, these studies have been obscured by BSMV-induced phenotypes and defense responses. The utility of BSMV VIGS may be improved using a BSMV genetic background which...

  1. Eyes Wide Open

    Directory of Open Access Journals (Sweden)

    Zoi Manesi

    2016-04-01

    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.

  2. Dry eyes : a commonly missed eye condition

    OpenAIRE

    Vella, Mario;

    2014-01-01

    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.

  3. Distribution and molecular detection of apple mosaic virus in apple ...

    African Journals Online (AJOL)

    SAM

    2014-07-30

    Jul 30, 2014 ... Apple mosaic virus (ApMV) is one of the most important diseases limiting the production of hazelnut and apple in Turkey ... success of those programs depends on specific and sensitive ..... Applied Biostatistics Inc. Rott ME ...

  4. 1935 15' Quad #004 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  5. NEPR World View 2 Satellite Mosaic - NOAA TIFF Image

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This GeoTiff is a mosaic of World View 2 panchromatic satellite imagery of Northeast Puerto Rico that contains the shallow water area (0-35m deep) surrounding...

  6. 1935 15' Quad #009 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  7. 1935 15' Quad #062 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  8. 1935 15' Quad #127 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  9. 1935 15' Quad #350 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  10. 1935 15' Quad #387 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  11. 1935 15' Quad #243 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  12. 1935 15' Quad #155 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  13. 1935 15' Quad #129 Aerial Photo Mosaic Index - NM

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  14. 1935 15' Quad #059 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  15. 1935 15' Quad #221 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  16. 1935 15' Quad #266 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  17. 1935 15' Quad #130 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  18. 1935 15' Quad #410 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  19. 1935 15' Quad #368 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  20. 1935 15' Quad #180 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  1. 1935 15' Quad #349 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  2. 1935 15' Quad #063 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  3. 1935 15' Quad #147 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  4. 1935 15' Quad #032 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  5. 1935 15' Quad #056 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  6. 1935 15' Quad #222 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  7. 1935 15' Quad #122 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  8. 1935 15' Quad #265 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  9. 1935 15' Quad #202 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  10. 2010 NOAA Ortho-rectified Mosaic of Lake Champlain, Vermont

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set contains ortho-rectified mosaic tiles, created as a product from the NOAA Integrated Ocean and Coastal Mapping (IOCM) initiative. The source imagery...

  11. Viral protein synthesis in cowpea mosaic virus infected protoplasts

    International Nuclear Information System (INIS)

    Rottier, P.

    1980-01-01

    Some aspects of cowpea mosaic virus (CPMV) multiplication in cowpea mesophyll protoplasts were studied. The detection and characterization of proteins whose synthesis is induced or is stimulated upon virus infection was performed with the aid of radioactive labelling. (Auth.)

  12. 1935 15' Quad #364 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  13. 1935 15' Quad #292 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  14. 1935 15' Quad #246 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  15. 1935 15' Quad #371 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  16. Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.

    Science.gov (United States)

    Besser, Andria G; Mounts, Emily L

    2017-04-01

    The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos. This is the first commentary to thoroughly address pre- and post-test genetic counselling recommendations, as well as considerations regarding prenatal screening and diagnosis. Current data on mosaic PGS results are summarized along with embryo selection considerations and potential outcomes of embryos diagnosed as mosaic. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  17. 1935 15' Quad #223 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  18. 1935 15' Quad #370 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  19. 1935 15' Quad #319 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  20. 1935 15' Quad #181 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  1. 1935 15' Quad #173 Aerial Photo Mosaic Index - NM

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  2. 1935 15' Quad #345 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  3. 1935 15' Quad #272 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  4. 1935 15' Quad #417 Aerial Photo Mosaic Index - AZ

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  5. 1935 15' Quad #339 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  6. 1935 15' Quad #490 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  7. 1935 15' Quad #270 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  8. 1935 15' Quad #219 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  9. 1935 15' Quad #145 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  10. 1935 15' Quad #227 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  11. 1935 15' Quad #132 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  12. 1935 15' Quad #298 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  13. 1935 15' Quad #100 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  14. 1935 15' Quad #152 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  15. 1935 15' Quad #226 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  16. 1935 15' Quad #361 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  17. 1935 15' Quad #126 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  18. 1935 15' Quad #037 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  19. 1935 15' Quad #297 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  20. 1935 15' Quad #124 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  1. Immunogenic compositions comprising human immunodeficiency virus (HIV) mosaic Nef proteins

    Science.gov (United States)

    Korber, Bette T [Los Alamos, NM; Perkins, Simon [Los Alamos, NM; Bhattacharya, Tanmoy [Los Alamos, NM; Fischer, William M [Los Alamos, NM; Theiler, James [Los Alamos, NM; Letvin, Norman [Boston, MA; Haynes, Barton F [Durham, NC; Hahn, Beatrice H [Birmingham, AL; Yusim, Karina [Los Alamos, NM; Kuiken, Carla [Los Alamos, NM

    2012-02-21

    The present invention relates to mosaic clade M HIV-1 Nef polypeptides and to compositions comprising same. The polypeptides of the invention are suitable for use in inducing an immune response to HIV-1 in a human.

  2. 1935 15' Quad #388 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  3. 2012 NOAA Ortho-rectified Color Mosaic of Astoria, Oregon

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set contains ortho-rectified mosaic tiles, created as a product from the NOAA Integrated Ocean and Coastal Mapping (IOCM) initiative. The source imagery...

  4. 2011 NOAA Ortho-rectified Mosaic of Intracoastal Waterway, Texas

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set contains ortho-rectified mosaic tiles, created as a product from the NOAA Integrated Ocean and Coastal Mapping (IOCM) initiative. The source imagery...

  5. Antiviral activities of streptomycetes against tobacco mosaic virus ...

    African Journals Online (AJOL)

    Mahera Shinwari

    2012-01-26

    Jan 26, 2012 ... Key words: Antiviral activity, tobacco mosaic virus, actinomycetes, Streptomyces, Datura metel ... have received less attention than those caused by fungal .... leaves were divided in to three partitions each containing triplicates.

  6. 1935 15' Quad #267 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  7. 1935 15' Quad #386 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  8. 1935 15' Quad #259 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  9. 1935 15' Quad #195 Aerial Photo Mosaic Index - NM

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  10. 1935 15' Quad #373 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  11. 1935 15' Quad #172 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  12. 1935 15' Quad #197 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  13. Crystal mosaic spread determination by slow neutron scattering

    International Nuclear Information System (INIS)

    Adib, M.; Naguib, K.; Abdel Kawy, A.; Ashry, A.; Abbas, Y.; Wahba, M.; Maayouf, M.A.

    1988-01-01

    A method has been established for determination of the crystal mosaic spread. The method is based on recording all neutron-reflected, under bragg condition, from a certain crystal plane. A computer code was developed especially in order to fit the measured wavelength's distribution of the reflected neutrons with the calculated one, assuming that the crystal mosaic spread has a Gaussian shape. The code accounts for the parameters of the time of flight spectrometer used during the present measurements, as well as divergence of the incident neutron beam. The developed method has been applied for determination of the mosaic spread of both zinc and pyrolytic graphite (P.G.) crystals. The mosaic spread values deduced from the present measurements, are 10'+-6' and 3.60 0 +-0.16 0 respectively for Zn and P.G. crystals

  14. 2011 NOAA Ortho-rectified Mosaic of Galveston, Texas

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set contains ortho-rectified mosaic tiles, created as a product from the NOAA Integrated Ocean and Coastal Mapping (IOCM) initiative. The source imagery...

  15. 1935 15' Quad #179 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  16. 1935 15' Quad #269 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  17. 1935 15' Quad #242 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  18. 1935 15' Quad #049 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  19. 1935 15' Quad #084 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  20. 1935 15' Quad #054 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  1. 1935 15' Quad #057 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  2. 1935 15' Quad #086 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  3. 1935 15' Quad #010 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  4. 1935 15' Quad #079 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  5. 1935 15' Quad #055 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  6. 1935 15' Quad #083 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  7. 1935 15' Quad #035 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  8. 1935 15' Quad #033 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  9. 1935 15' Quad #012 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  10. 1935 15' Quad #008 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  11. 1935 15' Quad #013 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  12. 1935 15' Quad #110 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  13. 1935 15' Quad #011 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  14. 1935 15' Quad #078 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  15. 1935 15' Quad #109 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  16. 1935 15' Quad #036 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  17. 1935 15' Quad #105 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  18. 1935 15' Quad #085 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  19. 1935 15' Quad #007 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  20. 1935 15' Quad #080 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  1. 1935 15' Quad #201 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  2. 1935 15' Quad #082 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  3. 1935 15' Quad #061 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  4. 1935 15' Quad #106 Aerial Photo Mosaic Index - NM

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  5. 1935 15' Quad #006 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  6. 1935 15' Quad #058 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  7. 1935 15' Quad #108 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  8. 1935 15' Quad #060 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  9. 1935 15' Quad #030 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  10. 1935 15' Quad #075 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  11. 1935 15' Quad #074 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  12. 1935 15' Quad #176 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  13. 1935 15' Quad #316 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  14. 1935 15' Quad #415 Aerial Photo Mosaic Index

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — Aerial Photo Reference Mosaics contain aerial photographs that are retrievable on a frame by frame basis. The inventory contains imagery from various sources that...

  15. Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.

    Science.gov (United States)

    Kato, Takeshi; Morisada, Naoya; Nagase, Hiroaki; Nishiyama, Masahiro; Toyoshima, Daisaku; Nakagawa, Taku; Maruyama, Azusa; Fu, Xue Jun; Nozu, Kandai; Wada, Hiroko; Takada, Satoshi; Iijima, Kazumoto

    2015-10-01

    CDKL5-related encephalopathy is an X-linked dominantly inherited disorder that is characterized by early infantile epileptic encephalopathy or atypical Rett syndrome. We describe a 5-year-old Japanese boy with intractable epilepsy, severe developmental delay, and Rett syndrome-like features. Onset was at 2 months, when his electroencephalogram showed sporadic single poly spikes and diffuse irregular poly spikes. We conducted a genetic analysis using an Illumina® TruSight™ One sequencing panel on a next-generation sequencer. We identified two epilepsy-associated single nucleotide variants in our case: CDKL5 p.Ala40Val and KCNQ2 p.Glu515Asp. CDKL5 p.Ala40Val has been previously reported to be responsible for early infantile epileptic encephalopathy. In our case, the CDKL5 heterozygous mutation showed somatic mosaicism because the boy's karyotype was 46,XY. The KCNQ2 variant p.Glu515Asp is known to cause benign familial neonatal seizures-1, and this variant showed paternal inheritance. Although we believe that the somatic mosaic CDKL5 mutation is mainly responsible for the neurological phenotype in the patient, the KCNQ2 variant might have some neurological effect. Genetic analysis by next-generation sequencing is capable of identifying multiple variants in a patient. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  16. Application of Peptide Nucleic Acid-based Assays Toward Detection of Somatic Mosaicism

    Directory of Open Access Journals (Sweden)

    Christopher S Hong

    2016-01-01

    Full Text Available Peptide nucleic acids (PNAs are synthetic oligonucleotides with many applications. Compared with DNA, PNAs bind their complementary DNA strand with higher specificity and strength, an attribute that can make it an effective polymerase chain reaction clamp. A growing body of work has demonstrated the utility of PNAs in detecting low levels of mutant DNA, particularly in the detection of circulating mutated tumor cells in the peripheral blood. The PNA-based assay has greater sensitivity than direct sequencing and is significantly more affordable and rapid than next-generation deep sequencing. We have previously demonstrated that PNAs can successfully detect somatic mosaicism in patients with suspected disease phenotypes. In this report, we detail our methodology behind PNA design and application. We describe our protocol for optimizing the PNA for sequencing use and for determining the sensitivity of the PNA-based assay. Lastly, we discuss the potential applications of our assay for future laboratory and clinical purposes and highlight the role of PNAs in the detection of somatic mosaicism.

  17. Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.

    Science.gov (United States)

    Nishigaki, Satsuki; Hamazaki, Takashi; Saito, Mika; Yamamoto, Toshiyuki; Seto, Toshiyuki; Shintaku, Haruo

    2015-01-01

    Ring chromosome 6 is a rare chromosome abnormality that arises typically de novo. The phenotypes can be highly variable, ranging from almost normal to severe malformations and neurological defects. We report a case of a 3-year-old girl with mosaic ring chromosome 6 who presented with being small for gestational age and intellectual disability, and whose brain MRI later revealed periventricular heterotopia and white matter abnormalities. Mosaicism was identified in peripheral blood cells examined by standard G-bands, mos 46,XX,r(6)(p25q27)[67]/45,XX,-6[25]/46,XX,dic r(6:6)(p25q27:p25q27)[6]/47,XX,r(6)(p25q27) × 2[2]. Using array-comparative genomic hybridization, we identified terminal deletion of 6q27 (1.5 Mb) and no deletion on 6p. To our knowledge, this is the first report of periventricular heterotopia and white matter abnormalities manifested in a patient with ring chromosome 6. These central nervous system malformations are further discussed in relation to molecular genetics.

  18. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

    Science.gov (United States)

    Ben-Salem, Salma; Sobreira, Nara; Akawi, Nadia A; Al-Shamsi, Aisha M; John, Anne; Pramathan, Thachillath; Valle, David; Ali, Bassam R; Al-Gazali, Lihadh

    2016-01-01

    The gene encoding the AT-rich interaction domain-containing protein 1B (ARID1B) has recently been shown to be one of the most frequently mutated genes in patients with intellectual disability (ID). The phenotypic spectrums associated with variants in this gene vary widely ranging for mild to severe non-specific ID to Coffin-Siris syndrome. In this study, we evaluated three children from a consanguineous Emirati family affected with ID and dysmorphic features. Genomic DNA from all affected siblings was analyzed using CGH array and whole-exome sequencing (WES). Based on a recessive mode of inheritance, homozygous or compound heterozygous variants shared among all three affected children could not be identified. However, further analysis revealed a heterozygous variant (c.4318C>T; p.Q1440*) in the three affected children in an autosomal dominant ID causing gene, ARID1B. This variant was absent in peripheral blood samples obtained from both parents and unaffected siblings. Therefore, we propose that the most likely explanation for this situation is that one of the parents is a gonadal mosaic for the variant. To the best of our knowledge, this is the first report of a gonadal mosaicism inheritance of an ARID1B variant leading to familial ID recurrence. © 2015 Wiley Periodicals, Inc.

  19. What Is Dry Eye?

    Medline Plus

    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 ...

  20. What Is Dry Eye?

    Medline Plus

    Full Text Available ... seasonal allergens and dry eye Apr 27, 2015 Choosing Wisely When It Comes to Eye Care, Part ... Name: Member ID: * Phone Number: * Email: * Enter code: * Message: Thank you Your feedback has been sent.

  1. About the Eye

    Medline Plus

    Full Text Available ... Disease Education Program Glaucoma Education Program Low Vision Education Program ... Eye Ask a Scientist Video Series Glossary The Visual System Your Eyes’ Natural Defenses Eye Health and Safety ...

  2. Pink Eye (Conjunctivitis)

    Science.gov (United States)

    ... 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. ...

  3. About the Eye

    Medline Plus

    Full Text Available ... Ask a Scientist Video Series Glossary The Visual System Your Eyes’ Natural Defenses Eye Health and Safety ... much as it does on your eyes. ... of Health | USA.gov NIH…Turning Discovery Into Health ®

  4. About the Eye

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    Full Text Available ... 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 the ...

  5. Preventing Eye Injuries

    Science.gov (United States)

    ... Your Eyes Sep 20, 2017 Eye Injuries from Laundry Packets On the Rise Jun 30, 2017 ... Medical Disclaimer Privacy Policy Terms of Service For Advertisers For Media Ophthalmology Job Center © American ...

  6. About the Eye

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    Full Text Available ... 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, ...

  7. What Is Dry Eye?

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    Full Text Available ... Eye Health Home Annual Meeting Clinical Education Practice Management Member Services Advocacy Foundation About Subspecialties & More Academy Publications EyeNet Ophthalmology Ophthalmology Retina Information for: International Ophthalmologists Media Medical Students Patients and ...

  8. What Is Dry Eye?

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    Full Text Available ... right type of tears or tear film . How do tears work? When you blink, a film of ... layer cleans the eye, washing away particles that do not belong in the eye. This layer comes ...

  9. About the Eye

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    Full Text Available ... The Visual System Your Eyes’ Natural Defenses Eye Health and Safety First Aid ... Your eyes are made up of many different parts that work together to help you see. Check out the ...

  10. About the Eye

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    Full Text Available ... Vision Education Program Hispanic/Latino Program Vision and Aging Program African American Program Training and Jobs Fellowships ... Defenses Eye Health and Safety First Aid Tips Healthy Vision Tips Protective Eyewear Sports and Your Eyes ...

  11. About the Eye

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    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 ...

  12. About the Eye

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    Full Text Available ... Home » NEI for Kids » About the Eye Listen All About Vision About the Eye Ask a Scientist ... you can see and make sense of the world around you. Did You Know? Vision depends on ...

  13. About the Eye

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  14. About the Eye

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    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 ...

  15. Eye Involvement in TSC

    Science.gov (United States)

    ... 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 ...

  16. What Is Dry Eye?

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    Full Text Available ... removed or pushed down the tear duct to insert a permanent punctal plug? Sep 12, 2017 Why ... Eye from Jennifer Aniston Sep 02, 2016 The link between seasonal allergens and dry eye Apr 27, ...

  17. What Is Dry Eye?

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    Full Text Available ... Services Advocacy Foundation About Subspecialties & More Eye Health Home Annual Meeting Clinical Education Practice Management Member Services Advocacy Foundation About Subspecialties & More Academy Publications EyeNet ...

  18. About the Eye

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    Full Text Available ... First Aid Tips Healthy Vision Tips Protective Eyewear Sports and Your Eyes Fun Stuff Cool Eye Tricks ... website is maintained by the NEI Office of Science Communications, Public Liaison, and Education. Technical questions about ...

  19. About the Eye

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  20. About the Eye

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    Full Text Available ... the special health problems and requirements of the blind.” News & Events Events Calendar NEI Press Releases News ... First Aid Tips Healthy Vision Tips Protective Eyewear Sports and Your Eyes Fun Stuff Cool Eye Tricks ...

  1. Immunology of the eye

    OpenAIRE

    Weronika Ratajczak; Beata Tokarz-Deptuła; Wiesław Deptuła

    2018-01-01

    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...

  2. The all seeing eye?

    NARCIS (Netherlands)

    Koenderink, Jan J.

    2014-01-01

    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

  3. About the Eye

    Medline Plus

    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 ...

  4. Dwarf Eye Disorder

    Science.gov (United States)

    Science Teacher, 2005

    2005-01-01

    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…

  5. Fish eye optics

    Science.gov (United States)

    Hudec, R.; Michalova, S.

    2017-07-01

    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.

  6. Eye and orbital cavity

    International Nuclear Information System (INIS)

    Panfilova, G.V.; Koval', G.Yu.

    1984-01-01

    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

  7. Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

    Science.gov (United States)

    Ejerskov, C; Farholt, S; Skovby, F; Vestergaard, E M; Haagerup, A

    2016-03-01

    The Danish sperm donor number 7042 has fathered several offspring with neurofibromatosis type 1 (NF1) worldwide. NF1 is caused by loss-of-function mutations in the NF1 gene and more than 1000 NF1 mutations are identified. Analysis of the donor sperm demonstrated gonosomal mosaicism with an intragenic deletion involving exons 15-29 in the NF1 gene. At the two Danish reference centres for NF1 patients, we evaluated 23 half-siblings from the donor. Nine were diagnosed with NF1. The severity grade of NF1 progressed from minimal to mild/moderate within 3 years of follow-up. The NF1 phenotype shows great variability in intra- and inter-family expressivity and to date only two NF1 genotype-phenotype correlations have been established. This rare possibility of a long-term follow-up of a cohort of half-siblings with NF1 makes further studies including phenotypic variability and search for modifier genes possible. To achieve this goal, we have initiated The International Donor 7042 NF1 Offspring Registry. Research facilitated via this registry may reveal important new knowledge of clinical characteristics and prognostics for the specific NF1 genotype and thereby contribute to future individualised targeted clinical follow-up and treatment. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Fine mapping of the Bsr1 barley stripe mosaic virus resistance gene in the model grass Brachypodium distachyon.

    Directory of Open Access Journals (Sweden)

    Yu Cui

    Full Text Available The ND18 strain of Barley stripe mosaic virus (BSMV infects several lines of Brachypodium distachyon, a recently developed model system for genomics research in cereals. Among the inbred lines tested, Bd3-1 is highly resistant at 20 to 25 °C, whereas Bd21 is susceptible and infection results in an intense mosaic phenotype accompanied by high levels of replicating virus. We generated an F(6:7 recombinant inbred line (RIL population from a cross between Bd3-1 and Bd21 and used the RILs, and an F(2 population of a second Bd21 × Bd3-1 cross to evaluate the inheritance of resistance. The results indicate that resistance segregates as expected for a single dominant gene, which we have designated Barley stripe mosaic virus resistance 1 (Bsr1. We constructed a genetic linkage map of the RIL population using SNP markers to map this gene to within 705 Kb of the distal end of the top of chromosome 3. Additional CAPS and Indel markers were used to fine map Bsr1 to a 23 Kb interval containing five putative genes. Our study demonstrates the power of using RILs to rapidly map the genetic determinants of BSMV resistance in Brachypodium. Moreover, the RILs and their associated genetic map, when combined with the complete genomic sequence of Brachypodium, provide new resources for genetic analyses of many other traits.

  9. Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.

    Science.gov (United States)

    Xue, Dan; Cao, Dong-Hua; Mu, Kai; Lv, Yuan; Yang, Jun

    2018-06-01

    Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism-array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex-determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus. © 2018 Japan Society of Obstetrics and Gynecology.

  10. Recognizing and Treating Eye Injuries

    Science.gov (United States)

    ... Eye Injuries First Aid for Eye Scratches Protective Eyewear Children’s Eye Injuries: Prevention and Care Eye Injuries ... Academy Jobs at the Academy Financial Relationships with Industry Medical Disclaimer Privacy Policy Terms of Service For ...

  11. Further applications for mosaic pixel FPA technology

    Science.gov (United States)

    Liddiard, Kevin C.

    2011-06-01

    In previous papers to this SPIE forum the development of novel technology for next generation PIR security sensors has been described. This technology combines the mosaic pixel FPA concept with low cost optics and purpose-designed readout electronics to provide a higher performance and affordable alternative to current PIR sensor technology, including an imaging capability. Progressive development has resulted in increased performance and transition from conventional microbolometer fabrication to manufacture on 8 or 12 inch CMOS/MEMS fabrication lines. A number of spin-off applications have been identified. In this paper two specific applications are highlighted: high performance imaging IRFPA design and forest fire detection. The former involves optional design for small pixel high performance imaging. The latter involves cheap expendable sensors which can detect approaching fire fronts and send alarms with positional data via mobile phone or satellite link. We also introduce to this SPIE forum the application of microbolometer IR sensor technology to IoT, the Internet of Things.

  12. A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.

    Science.gov (United States)

    Yang, Xingyi; Ye, Zilan; Zhang, Xiaofang; Wang, Huijun; Liu, Chao

    2017-07-01

    Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, XX karyotype in typical females. There is considerable variation in the phenotype, with some individuals very mildly affected and others with more significant physical and psychological features. However, the trisomy X in this case, without any of these phenotype, is rarely reported. Here, we report a case found during DNA sample collection in a study of genetic polymorphism analysis of loci in Chinese ethnic group, of a female with neither laboratory or clinical signs of Triple X syndrome. She was born at her mother's 60years old and her father's 62years old. Advanced maternal age was found acting as a significant risk factor of Triplo-X. Moreover, her child are also born without manifestations of 47, XXX syndrome. Pedigree study demonstrated the normal karyotype of the children. A diagnosis of 47XXX was made on the basis of a chromosomal study. Therefore, laboratory investigations (including PCR amplification, more than two kinds of X-STR genotyping, G-banding karyotyping analysis and Pedigree study) are applied to rule out the possibility of Mosaicism (45, X0/47, XXX) and ascertain her 47XXX karyotype without mosaic. The objective of this study was to report a case of trisomy X, diagnostic investigation and management of the case, and to analysis the genetically possible reasons behind the case. To our knowledge, this case is a rare one, found in DNA sample collection for the estimation of gene frequency in the process of genetic polymorphism study, of non-mosaic 47, XXX without signs of physical syndrome and born healthy children. In this study, it revealed that the proportion of trisomy X would be more than official statistics and risk of systemic disabilities is lower than estimated. Moreover, we found out that sample mixture and mosaicism act as the interference factors in forensic test. Therefore, we draw the conclusion that

  13. GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

    Directory of Open Access Journals (Sweden)

    Eva Y. G. De Vilder

    2017-01-01

    Full Text Available Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX, is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP with important functions in various biological processes. Mutations in the encoding GGCX gene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1 is best known. Other patients have skin, eye, heart or bone manifestations. As genotype–phenotype correlations were never described, literature was systematically reviewed in search of patients with at least one GGCX mutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations—a frequent problem in orphan diseases—we demonstrate the crucial role of the horizontally transferred transmembrane domain in developing cardiac and bone manifestations. Moreover, natural history suggests ageing as the principal determinant to develop skin and eye symptoms. VKCFD1 symptoms seemed more severe in patients with both mutations in the same protein domain, though this could not be linked to a more perturbed coagulation factor function. Finally, distinct GGCX functional domains might be dedicated to carboxylation of very specific VKDP. In conclusion, this systematic review suggests that there indeed may be genotype–phenotype correlations for GGCX-related phenotypes, which can guide patient counseling and management.

  14. EYE GAZE TRACKING

    DEFF Research Database (Denmark)

    2017-01-01

    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...

  15. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

    NARCIS (Netherlands)

    Paznekas, W.A.; Karczeski, B.; Vermeer, S.; Lowry, R.B.; Delatycki, M.; Laurence, F.; Koivisto, P.A.; Maldergem, L. van; Boyadjiev, S.A.; Bodurtha, J.N.; Jabs, E.W.

    2009-01-01

    The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial

  16. Variation in biological properties of cauliflower mosaic virus clones.

    Science.gov (United States)

    al-Kaff, N; Covey, S N

    1994-11-01

    Infectious clones were prepared from virion DNA of three cauliflower mosaic virus (CaMV) isolates, 11/3, Xinjiang (XJ), and Aust, to investigate pathogenic variation in virus populations. Of 10 infectious clones obtained for isolate 11/3, four pathotypes were identified, each producing symptoms in turnip that differed from those of the 11/3 wild-type. Virus from two clonal groups of 11/3 was transmissible by aphids whereas that from two others was not. Of the five infectious clones obtained from isolate XJ, two groups were identified, one of which differed symptomatically from the wild-type. Only one infectious clone was obtained from isolate Aust and this had properties similar to the wild-type. Restriction enzyme polymorphisms were found in some clonal groups and these correlated with symptoms. Other groups with different pathogenic properties could not be distinguished apart by restriction site polymorphisms. Further variation was observed in the nucleotide sequences of gene II (coding for aphid transmission factor) from these viruses as compared with other CaMV isolates. In the aphid non-transmissible clones of isolate 11/3, one had a Gly to Arg mutation in gene II similar to that of other non-deleted non-transmissible CaMV isolates. The second had a 322 bp deletion at the site of a small direct repeat similar to that of isolate CM4-184 although occurring in a different position. The gene II deletion of isolate 11/3 produced a frame-shift that separated genes II and III by 60 bp. Most CaMV clones studied remained biologically stable producing similar symptoms during subsequent passages. However, one clone (11/3-7) produced two new biotypes during its first passage suggesting that it was relatively unstable. Our results show that wild-type populations of CaMV contain a range of infectious genome variants with contrasting biological properties and differing stability. We suggest that a variety of significant viral phenotypic changes can occur during each

  17. Distribution of Fig Mosaic in Jordan

    Directory of Open Access Journals (Sweden)

    Khalil I. Al-Mughrabi

    2000-08-01

    Full Text Available Fig mosaic (FM is one of the most important diseases of figs in Jordan. A nationwide survey was conducted to determine the incidence and severity of this disease in trees and in seedlings propagated by cuttings in orchards and nurseries in 13 provinces and cities all over the country. Cultivars surveyed included Khdari, Mwazi, Zraki, Khartamani, Dafoori, Turki, Hamari, Esaili, Ajlouni, in addition to an Italian and a French cultivar. Disease severity varied from moderately severe to extremely severe with leaf malformation and fruit drop FM was found in all provinces. Incidence of FM, averaged over trees of all cultivars and all age categories, was 95.3%. Fig trees 3 years and older had the highest disease incidence, ranging from 93.3% to 100% in the different orchards. The Esaili cultivar had the lowest incidence ranging between 50% and100%, with an average of 76.5%. The highest FM incidence was on Dafoori. Of the most common cultivars, Khdari was the most susceptible. Jerash province had the highest percentage (12.5% of fig seedlings and trees in the most severe disease category. The highest percentage (27.8% of healthy fig seedlings and trees was in Irbid province. This paper reports the incidence of FM in various local and imported fig cultivars of different ages, and relates the spread of the disease to the method of fig propagation practiced in Jordan. Suggested solutions for the problem, which include the introduction of disease and pest free fig seedlings derived from tissue culture and the establishment of new rules and regulations to prevent the spread of the disease are discussed.

  18. Interfering Satellite RNAs of Bamboo mosaic virus

    Directory of Open Access Journals (Sweden)

    Kuan-Yu Lin

    2017-05-01

    Full Text Available Satellite RNAs (satRNAs are sub-viral agents that may interact with their cognate helper virus (HV and host plant synergistically and/or antagonistically. SatRNAs totally depend on the HV for replication, so satRNAs and HV usually evolve similar secondary or tertiary RNA structures that are recognized by a replication complex, although satRNAs and HV do not share an appreciable sequence homology. The satRNAs of Bamboo mosaic virus (satBaMV, the only satRNAs of the genus Potexvirus, have become one of the models of how satRNAs can modulate HV replication and virus-induced symptoms. In this review, we summarize the molecular mechanisms underlying the interaction of interfering satBaMV and BaMV. Like other satRNAs, satBaMV mimics the secondary structures of 5′- and 3′-untranslated regions (UTRs of BaMV as a molecular pretender. However, a conserved apical hairpin stem loop (AHSL in the 5′-UTR of satBaMV was found as the key determinant for downregulating BaMV replication. In particular, two unique nucleotides (C60 and C83 in the AHSL of satBaMVs determine the satBaMV interference ability by competing for the replication machinery. Thus, transgenic plants expressing interfering satBaMV could confer resistance to BaMV, and interfering satBaMV could be used as biological-control agent. Unlike two major anti-viral mechanisms, RNA silencing and salicylic acid-mediated immunity, our findings in plants by in vivo competition assay and RNA deep sequencing suggested replication competition is involved in this transgenic satBaMV-mediated BaMV interference. We propose how a single nucleotide of satBaMV can make a great change in BaMV pathogenicity and the underlying mechanism.

  19. Measurement and correction of transverse chromatic offsets for multi-wavelength retinal microscopy in the living eye.

    Science.gov (United States)

    Harmening, Wolf M; Tiruveedhula, Pavan; Roorda, Austin; Sincich, Lawrence C

    2012-09-01

    A special challenge arises when pursuing multi-wavelength imaging of retinal tissue in vivo, because the eye's optics must be used as the main focusing elements, and they introduce significant chromatic dispersion. Here we present an image-based method to measure and correct for the eye's transverse chromatic aberrations rapidly, non-invasively, and with high precision. We validate the technique against hyperacute psychophysical performance and the standard chromatic human eye model. In vivo correction of chromatic dispersion will enable confocal multi-wavelength images of the living retina to be aligned, and allow targeted chromatic stimulation of the photoreceptor mosaic to be performed accurately with sub-cellular resolution.

  20. Organization of eye bank

    International Nuclear Information System (INIS)

    Reddy, S.C.

    1999-01-01

    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

  1. EyeMusic: Making Music with the Eyes

    OpenAIRE

    Hornof, Anthony J.; Sato, Linda

    2004-01-01

    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...

  2. Meaning of visualizing retinal cone mosaic on adaptive optics images.

    Science.gov (United States)

    Jacob, Julie; Paques, Michel; Krivosic, Valérie; Dupas, Bénédicte; Couturier, Aude; Kulcsar, Caroline; Tadayoni, Ramin; Massin, Pascale; Gaudric, Alain

    2015-01-01

    To explore the anatomic correlation of the retinal cone mosaic on adaptive optics images. Retrospective nonconsecutive observational case series. A retrospective review of the multimodal imaging charts of 6 patients with focal alteration of the cone mosaic on adaptive optics was performed. Retinal diseases included acute posterior multifocal placoid pigment epitheliopathy (n = 1), hydroxychloroquine retinopathy (n = 1), and macular telangiectasia type 2 (n = 4). High-resolution retinal images were obtained using a flood-illumination adaptive optics camera. Images were recorded using standard imaging modalities: color and red-free fundus camera photography; infrared reflectance scanning laser ophthalmoscopy, fluorescein angiography, indocyanine green angiography, and spectral-domain optical coherence tomography (OCT) images. On OCT, in the marginal zone of the lesions, a disappearance of the interdigitation zone was observed, while the ellipsoid zone was preserved. Image recording demonstrated that such attenuation of the interdigitation zone co-localized with the disappearance of the cone mosaic on adaptive optics images. In 1 case, the restoration of the interdigitation zone paralleled that of the cone mosaic after a 2-month follow-up. Our results suggest that the interdigitation zone could contribute substantially to the reflectance of the cone photoreceptor mosaic. The absence of cones on adaptive optics images does not necessarily mean photoreceptor cell death. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Mosaic boreal landscapes with open and forested wetlands

    International Nuclear Information System (INIS)

    Sjoeberg, K.; Ericson, L.

    1997-01-01

    We review patterns and processes important for biodiversity in the Fennoscandian boreal forest, describe man's past and present impact and outline a strategy for conservation. The boreal landscape was earlier characterized by a mosaic of open and forested wetlands and forests. Drainage and felling operation have largely changed that pattern. Several organisms depend upon the landscape mosaic. Natural ecotones between mire and forest provide food resources predictable in space and time contrasting to unpredictable edges in the silvicultured landscape. The mosaic is also a prerequisite for organisms dependent on non-substitutable resources in the landscape. The importance of swamp forests has increased as they function as refugia for earlier more widespread old-growth species. Programmes for maintaining biodiversity in the boreal landscape should include the following points. First, the natural mosaic with open and forested wetlands must be maintained. Second, swamp forests must receive a general protection as they often constitute the only old-growth patches in the landscape. Third, we need to restore earlier disturbance regimes. Present strategy plans for conservation are insufficient, as they imply that a too large proportion of boreal organisms will not be able to survive outside protected areas. Instead, we need to focus more on how to preserve organisms in the man-influenced landscape. As a first step we need to understand how organisms are distributed in landscapes at various spatial scales. We need studies in landscapes where the original mosaic has faced various degrees of fragmentation. (au) 124 refs

  4. Efisiensi Tular Benih Squash mosaic virus pada Cucurbitaceae

    Directory of Open Access Journals (Sweden)

    Susanti Mugi Lestari

    2014-09-01

    Full Text Available Infection of viruses on Cucurbitaceae may cause high yield and economic losses. Squash mosaic virus is a seed borne virus and among the most important virus infecting Cucurbitaceae. The aims of these research was to detect infection of several viruses on Cucurbitaceae and to examine seed transmission efficiency of SqMV. Detection of Cucumber mosaic virus (CMV, Squash mosaic virus (SqMV, Watermelon mosaic virus-2 (WMV-2, Zucchini yellow mosaic virus (ZYMV, and Tobacco ringspot virus (TRSV from field samples and seeds was conducted using Indirect-ELISA method. Infection of CMV, SqMV and ZYMV was detected from field samples. Seed transmission of SqMV on commercial seeds of bottle gourd, watermelon, zucchini, cabocha, cucumber, and melon was 13, 13, 33, 73, 100, and 100%, respectively. Seed transmission of ZYMV was only occurred on bottle gourd and zucchini, i.e. 13.3% and 26.67%, respectively. Infection of SqMV through F2 seed was determined from cucumber, bottle gourd, and melon, i.e. 93, 100, and 100%, respectively. Therefore, the status of SqMV as quarantine pest should be evaluated since SqMV was already found in West Java.

  5. LBA-ECO LC-15 JERS-1 Synthetic Aperture Radar, 1- km Mosaic, Amazon Basin: 1995-1996

    Data.gov (United States)

    National Aeronautics and Space Administration — This data set contains two image mosaics of L-band radar backscatter and two image mosaics of first order texture. The two backscatter images are mosaics of L-band...

  6. Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

    Science.gov (United States)

    Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

    2014-01-01

    Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

  7. Asthma phenotypes in childhood.

    Science.gov (United States)

    Reddy, Monica B; Covar, Ronina A

    2016-04-01

    This review describes the literature over the past 18 months that evaluated childhood asthma phenotypes, highlighting the key aspects of these studies, and comparing these studies to previous ones in this area. Recent studies on asthma phenotypes have identified new phenotypes on the basis of statistical analyses (using cluster analysis and latent class analysis methodology) and have evaluated the outcomes and associated risk factors of previously established early childhood asthma phenotypes that are based on asthma onset and patterns of wheezing illness. There have also been investigations focusing on immunologic, physiologic, and genetic correlates of various phenotypes, as well as identification of subphenotypes of severe childhood asthma. Childhood asthma remains a heterogeneous condition, and investigations into these various presentations, risk factors, and outcomes are important since they can offer therapeutic and prognostic relevance. Further investigation into the immunopathology and genetic basis underlying childhood phenotypes is important so therapy can be tailored accordingly.

  8. Phenotypic Involvement in Females with the FMR1 Gene Mutation.

    Science.gov (United States)

    Riddle, J. E.; Cheema, A.; Sobesky, W. E.; Gardner, S. C.; Taylor, A. K.; Pennington, B. F.; Hagerman, R. J.

    1998-01-01

    A study investigated phenotypic effects seen in 114 females with premutation and 41 females (ages 18-58) with full Fragile X mental retardation gene mutation. Those with the full mutation had a greater incidence of hand-flapping, eye contact problems, special education help for reading and math, and grade retention. (Author/CR)

  9. ELECTRORETINOGRAPHIC FEATURES OF THE RETINOPATHY, GLOBE ENLARGED (RGE) CHICK PHENOTYPE.

    Science.gov (United States)

    A manuscript examines the retinal changes in an avian model of inherited loss of vision. Avian models of eye diseases that affect humans have previously been identified. Characterizing the phenotype of the rge strain is a necessary step in determining whether the loss of vision...

  10. Eye Disease and Development

    DEFF Research Database (Denmark)

    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...

  11. Inflammation in dry eye.

    Science.gov (United States)

    Stern, Michael E; Pflugfelder, Stephen C

    2004-04-01

    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.

  12. LASIK eye surgery

    Science.gov (United States)

    ... 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 ...

  13. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics ... Services Advocacy Foundation About Subspecialties & More Eye ...

  14. Prevention of Eye Injuries

    OpenAIRE

    Pashby, Tom

    1981-01-01

    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...

  15. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Academy Publications EyeNet Ophthalmology ...

  16. A List of Astronomical Meetings Available via Mosaic

    Science.gov (United States)

    Bryson, E.; Crabtree, D.

    We have been making a list of astronomical and related meetings available electronically for a number of years. Recently, several meeting organizers have made information about their meetings available via anonymous ftp or even NCSA Mosaic. We have produced a new version of our electronic meeting list available via NCSA Mosaic which provides links to the information being provided electronically. Depending upon the amount of information being provided for an individual meeting, it may be possible for a user browsing the list of meetings to click on the meeting of interest, fill out a registration form, download maps, browse abstracts, etc. We hope the availability of this service will encourage other meeting organizers to make information about their meetings available electronically and to take advantage of new technology such as NCSA Mosaic. URL: http:// cadcwww.dao.nrc.calmeetings/meetings.html

  17. Mosaic serine proteases in the mammalian central nervous system.

    Science.gov (United States)

    Mitsui, Shinichi; Watanabe, Yoshihisa; Yamaguchi, Tatsuyuki; Yamaguchi, Nozomi

    2008-01-01

    We review the structure and function of three kinds of mosaic serine proteases expressed in the mammalian central nervous system (CNS). Mosaic serine proteases have several domains in the proenzyme fragment, which modulate proteolytic function, and a protease domain at the C-terminus. Spinesin/TMPRSS5 is a transmembrane serine protease whose presynaptic distribution on motor neurons in the spinal cord suggests that it is significant for neuronal plasticity. Cell type-specific alternative splicing gives this protease diverse functions by modulating its intracellular localization. Motopsin/PRSS12 is a mosaic protease, and loss of its function causes mental retardation. Recent reports indicate the significance of this protease for cognitive function. We mention the fibrinolytic protease, tissue plasminogen activator (tPA), which has physiological and pathological functions in the CNS.

  18. Image Mosaic Method Based on SIFT Features of Line Segment

    Directory of Open Access Journals (Sweden)

    Jun Zhu

    2014-01-01

    Full Text Available This paper proposes a novel image mosaic method based on SIFT (Scale Invariant Feature Transform feature of line segment, aiming to resolve incident scaling, rotation, changes in lighting condition, and so on between two images in the panoramic image mosaic process. This method firstly uses Harris corner detection operator to detect key points. Secondly, it constructs directed line segments, describes them with SIFT feature, and matches those directed segments to acquire rough point matching. Finally, Ransac method is used to eliminate wrong pairs in order to accomplish image mosaic. The results from experiment based on four pairs of images show that our method has strong robustness for resolution, lighting, rotation, and scaling.

  19. Extended image differencing for change detection in UAV video mosaics

    Science.gov (United States)

    Saur, Günter; Krüger, Wolfgang; Schumann, Arne

    2014-03-01

    Change detection is one of the most important tasks when using unmanned aerial vehicles (UAV) for video reconnaissance and surveillance. We address changes of short time scale, i.e. the observations are taken in time distances from several minutes up to a few hours. Each observation is a short video sequence acquired by the UAV in near-nadir view and the relevant changes are, e.g., recently parked or moved vehicles. In this paper we extend our previous approach of image differencing for single video frames to video mosaics. A precise image-to-image registration combined with a robust matching approach is needed to stitch the video frames to a mosaic. Additionally, this matching algorithm is applied to mosaic pairs in order to align them to a common geometry. The resulting registered video mosaic pairs are the input of the change detection procedure based on extended image differencing. A change mask is generated by an adaptive threshold applied to a linear combination of difference images of intensity and gradient magnitude. The change detection algorithm has to distinguish between relevant and non-relevant changes. Examples for non-relevant changes are stereo disparity at 3D structures of the scene, changed size of shadows, and compression or transmission artifacts. The special effects of video mosaicking such as geometric distortions and artifacts at moving objects have to be considered, too. In our experiments we analyze the influence of these effects on the change detection results by considering several scenes. The results show that for video mosaics this task is more difficult than for single video frames. Therefore, we extended the image registration by estimating an elastic transformation using a thin plate spline approach. The results for mosaics are comparable to that of single video frames and are useful for interactive image exploitation due to a larger scene coverage.

  20. First Complete Genome Sequence of a Watermelon Mosaic Virus Isolated from Watermelon in the United States

    OpenAIRE

    Rajbanshi, Naveen; Ali, Akhtar

    2016-01-01

    Watermelon mosaic virus was first reported in 1965 from the Rio Grande Valley, TX. We report here the first complete genome sequence of a watermelon mosaic virus isolate from watermelon collected from the Rio Grande Valley of Texas.

  1. Turner syndrome and 45,X/47,XXX mosaicism.

    Science.gov (United States)

    Akbas, E; Mutluhan, H; Savasoglu, K; Soylemez, F; Ozturk, I; Yazici, G

    2009-01-01

    The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.

  2. Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

    Science.gov (United States)

    Kohn, G; Cohen, M M; Beyth, Y; Ornoy, A

    1977-01-01

    Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism. Images PMID:856232

  3. The impact of cellular senescence in skin ageing: A notion of mosaic and therapeutic strategies.

    Science.gov (United States)

    Toutfaire, Marie; Bauwens, Emilie; Debacq-Chainiaux, Florence

    2017-10-15

    Cellular senescence is now recognized as one of the nine hallmarks of ageing. Recent data show the involvement of senescent cells in tissue ageing and some age-related diseases. Skin represents an ideal model for the study of ageing. Indeed, skin ageing varies between individuals depending on their chronological age but also on their exposure to various exogenous factors (mainly ultraviolet rays). If senescence traits can be detected with ageing in the skin, the senescent phenotype varies among the various skin cell types. Moreover, the origin of cellular senescence in the skin is still unknown, and multiple origins are possible. This reflects the mosaic of skin ageing. Senescent cells can interfere with their microenvironment, either via the direct secretion of factors (the senescence-associated secretory phenotype) or via other methods of communication, such as extracellular vesicles. Knowledge regarding the impact of cellular senescence on skin ageing could be integrated into dermatology research, especially to limit the appearance of senescent cells after photo(chemo)therapy or in age-related skin diseases. Therapeutic approaches include the clearance of senescent cells via the use of senolytics or via the cooperation with the immune system. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Double trisomy mosaic (47,XXX/48,XXX,+13) confirmed by FISH and skin fibroblast culture

    Energy Technology Data Exchange (ETDEWEB)

    Lieber, E.; Grady, V.; Dosik, H. [Interfaith Medical Center, Brooklyn, NY (United States)] [and others

    1994-09-01

    A 4 lb 8 oz female was born to a 49-year-old woman (P1200G12) at 40 weeks. The baby had tetralogy of Fallot, polydactyly, microcephaly, low set simple ears, posterior cleft of the soft palate and overlapping flexion deformities of both hands. The eyes were deep set. The clinical impression was trisomy 13. The baby is not doing well and needs a gastrotomy tube for feeding. Sucking is allright but swallowing is impeded. An MRI showed an anomaly of the corpus callosum. The ophthalmological examination showed no abnormalities. A chromosome study on a 2-day peripheral blood sample resulted in poor growth and poor morphology; however, 20 Giemsa-banded cells revealed a 47,XXX karyotype. A second specimen was obtained to search for mosaicism and a blood smear revealed nuclear projections on the neutrophils. FISH analysis using whole chromosome painting probe (Life Technologies) first identified the extra chromosome number 13, the final results showing five of sixty metaphase cells (8.3%) with trisomy 13. Cytogenetic analysis using Giemsa-banding technique revealed four cells in fifty examined (8.0%) with a 48,XXX,+13 karyotype. In order to further evaluate the mosaicism, cytogenetic analysis of a skin fibroblast culture was performed. Twenty one of twenty three cells examined (91.3%) showed the 48,XXX,+13 karyotype. FISH analysis of the skin biopsy revealed eighteen of twenty cells (90.9%) with the trisomy 13. The FISH technique is an important enhancement to routine cytogenetic studies when they do not immediately correlate with clinical impressions.

  5. Clinical phenotypes of asthma

    NARCIS (Netherlands)

    Bel, Elisabeth H.

    2004-01-01

    PURPOSE OF REVIEW: Asthma is a phenotypically heterogeneous disorder and, over the years, many different clinical subtypes of asthma have been described. A precise definition of asthma phenotypes is now becoming more and more important, not only for a better understanding of pathophysiologic

  6. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and Deadlines ... Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and Deadlines ...

  7. Eye tracking social preferences

    NARCIS (Netherlands)

    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

  8. XI. THE WATERING EYE

    African Journals Online (AJOL)

    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 ...

  9. Dry eye syndrome

    Science.gov (United States)

    ... 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, ...

  10. What Is Dry Eye?

    Medline Plus

    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 ...

  11. Photorefraction of the Eye

    Science.gov (United States)

    Colicchia, Giuseppe; Wiesner, Hartmut; Zollman, Dean

    2015-01-01

    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…

  12. Lasik eye surgery - slideshow

    Science.gov (United States)

    ... 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 ...

  13. About the Eye

    Medline Plus

    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 ...

  14. LASIK Eye Surgery

    Science.gov (United States)

    ... 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 ...

  15. About the Eye

    Medline Plus

    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 ...

  16. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and Deadlines Museum of Vision Ophthalmology Job ... Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and Deadlines Museum of Vision Ophthalmology Job ...

  17. What Is Dry Eye?

    Medline Plus

    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 ...

  18. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Medicare Physician Payment Meetings and Deadlines Museum of Vision Ophthalmology Job Center Our Sites EyeWiki International Society ... Medicare Physician Payment Meetings and Deadlines Museum of Vision Ophthalmology Job Center Our Sites EyeWiki International Society ...

  19. Smoking and Eye Health

    Science.gov (United States)

    ... 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, ...

  20. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Payment Meetings and Deadlines Museum of Vision Ophthalmology Job Center Our Sites EyeWiki International Society of Refractive ... Payment Meetings and Deadlines Museum of Vision Ophthalmology Job Center Our Sites EyeWiki International Society of Refractive ...

  1. About the Eye

    Medline Plus

    Full Text Available ... Learn how the different parts of your eye work together so you can see and make sense of the world around you. Did You Know? Vision depends on your brain as much as it does on your eyes. NEI Home Contact Us A-Z Site Map NEI on ...

  2. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Media Medical Students Patients and Public Technicians and Nurses Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare ... Media Medical Students Patients and Public Technicians and Nurses Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare ...

  3. BullsEye

    DEFF Research Database (Denmark)

    Klokmose, Clemens Nylandsted; Kristensen, Janus Bager; Bagge, Rolf

    2014-01-01

    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....

  4. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and Deadlines Museum ... Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and Deadlines Museum ...

  5. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and ... Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and ...

  6. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Public Technicians and Nurses Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare ... Public Technicians and Nurses Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America Help IRIS Registry Medicare ...

  7. What Is Dry Eye?

    Medline Plus

    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 ...

  8. Apoptosis in the eye.

    OpenAIRE

    Chahory , Sabine; Torriglia , Alicia

    2006-01-01

    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.

  9. What Is Dry Eye?

    Medline Plus

    Full Text Available ... Medical Students Patients and Public Technicians and Nurses Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America ... Medical Students Patients and Public Technicians and Nurses Senior Ophthalmologists Young Ophthalmologists Tools and Services EyeCare America ...

  10. Eyes, Bulging (Proptosis)

    Science.gov (United States)

    ... 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 ...

  11. First report of Apple necrotic mosaic virus infecting apple trees in Korea

    Science.gov (United States)

    In September 2016, two apple trees (Malus domestica Borkh) cv. Shinano Sweet showing bright cream spot and mosaic patterns on leaves were observed in Pocheon, South Korea. Mosaic symptoms are common on leaves of apple trees infected with Apple mosaic virus (ApMV). Symptomatic leaves were tested by e...

  12. Production of yam mosaic virus monoclonal antibodies in mice ...

    African Journals Online (AJOL)

    Administrator

    2011-09-19

    Sep 19, 2011 ... 4AVRDC-The World Vegetable Center, Shanhua, Taiwan. Accepted 11 August, 2011. Yam mosaic virus (YMV) ... leaves and non-infected tissue culture yam leaves. The antibody produced had a titre of ... systems for in-vitro production of monoclonal antibodies, such as standard tissue culture techniques,.

  13. Distribution and molecular detection of apple mosaic virus in apple ...

    African Journals Online (AJOL)

    ... pair for real time polymerase chain reaction (RT-PCR) detection of coat protein gene for Turkish ApMV isolates. Apple mosaic virus isolates were collected in 2007 to 2010 and the presence of the pathogen was detected by double antibody sandwich enzyme-linked immunosorbent assay (DAS-ELISA) and RT-PCR tests.

  14. Research of x-ray automatic image mosaic method

    Science.gov (United States)

    Liu, Bin; Chen, Shunan; Guo, Lianpeng; Xu, Wanpeng

    2013-10-01

    Image mosaic has widely applications value in the fields of medical image analysis, and it is a technology that carries on the spatial matching to a series of image which are overlapped with each other, and finally builds a seamless and high quality image which has high resolution and big eyeshot. In this paper, the method of grayscale cutting pseudo-color enhancement was firstly used to complete the mapping transformation from gray to the pseudo-color, and to extract SIFT features from the images. And then by making use of a similar measure of NCC (normalized cross correlation - Normalized cross-correlation), the method of RANSAC (Random Sample Consensus) was used to exclude the pseudofeature points right in order to complete the exact match of feature points. Finally, seamless mosaic and color fusion were completed by using wavelet multi-decomposition. The experiment shows that the method we used can effectively improve the precision and automation of the medical image mosaic, and provide an effective technical approach for automatic medical image mosaic.

  15. Mosaic protein and nucleic acid vaccines against hepatitis C virus

    Science.gov (United States)

    Yusim, Karina; Korber, Bette T. M.; Kuiken, Carla L.; Fischer, William M.

    2013-06-11

    The invention relates to immunogenic compositions useful as HCV vaccines. Provided are HCV mosaic polypeptide and nucleic acid compositions which provide higher levels of T-cell epitope coverage while minimizing the occurrence of unnatural and rare epitopes compared to natural HCV polypeptides and consensus HCV sequences.

  16. Purification and properties of cowpea mosaic virus RNA replicase

    NARCIS (Netherlands)

    Zabel, P.

    1978-01-01

    This thesis concerns the partial purification and properties of an RNA-dependent RNA polymerase (RNA replicase) produced upon infection of Vigna unguiculata plants with Cowpea Mosaic Virus (CPMV). The enzyme is believed to be coded, at least in part, by the virus genome and to

  17. Coat protein sequence shows that Cucumber mosaic virus isolate

    Indian Academy of Sciences (India)

    A viral disease was identified on geraniums (Pelargonium spp.) grown in a greenhouse at the Institute of Himalayan Bioresource Technology (IHBT), Palampur, exhibiting mild mottling and stunting. The causal virus (Cucumber mosaic virus, CMV) was identified and characterized on the basis of host range, aphid ...

  18. Variability in alternanthera mosaic virus isolates from different hosts

    Science.gov (United States)

    We have determined the complete genome sequences of Alternanthera mosaic virus phlox isolate PA (AltMV-PA) and four infectious clone variants derived from AltMV-SP, as well as partial sequences of other isolates from various types of phlox, and from portulaca, nandina, and cineraria. Phylogenetic co...

  19. Simultaneous detection of Apple mosaic virus in cultivated hazelnuts ...

    African Journals Online (AJOL)

    The most economically damaging ilarvirus affecting hazelnut on a worldwide scale is the related apple mosaic virus (ApMV). Attempts were made to isolate the virus RNA from hazelnut tissues using different extraction methods. The most suitable extraction method that could detect the virus occurring naturally in hazelnut by ...

  20. Orthophoto Mosaic (2012) for Coral Bay, St. John

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This 0.3x0.3 meter imagery mosaic of Coral Bay, St. John in the U.S. Virgin Islands was created by the National Oceanic and Atmospheric Administration (NOAA) using a...

  1. Orthophoto Mosaic (2012) of the St. Thomas East End Reserve

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This 0.3x0.3 meter imagery mosaic of the St. Thomas East End Reserve (STEER), St. Thomas in the U.S. Virgin Islands was created by the National Oceanic and...

  2. Transmission of Switchgrass mosaic virus by Graminella aureovitatta

    Science.gov (United States)

    Switchgrass mosaic virus (SwMV) was identified in switchgrass (Panicum virgatum) and was proposed as a new marafivirus based on its genome sequence and comparison with its closest relative, Maize rayado fino virus (MRFV), a type member of the genus, Marafivirus. MRFV only infects maize (Zea mays) an...

  3. The use of biolistic inoculation of cassava mosaic begomoviruses in ...

    African Journals Online (AJOL)

    These cassava cultivars were challenged with both DNA A and B components of the infectious clones named above using particle gun bombardment. The cassava cultivars showed varying degrees of susceptibility/resistance to the two infectious clones used. All symptoms of Cassava Mosaic Disease (CMD) observed were ...

  4. Neutron diffraction on a large block mosaic crystal

    International Nuclear Information System (INIS)

    Kim Chir Sen; Nitts, V.V.

    1985-01-01

    The neutron diffraction by the mosaic single crystal with size of crystallites sufficient to achieve the primary extinction saturation is considered. Two cases where the proportionality between the reflection intensity and the structure amplitude is performed are analysed. Such a dependence is convenient for structure investigations. The difficulties connected with the accounting of the extinction are eliminated considerably

  5. Proteins synthesized in tobacco mosaic virus infected protoplasts

    NARCIS (Netherlands)

    Huber, R.

    1979-01-01

    The study described here concerns the proteins, synthesized as a result of tobacco mosaic virus (TMV) multiplication in tobacco protoplasts and in cowpea protoplasts. The identification of proteins involved in the TMV infection, for instance in the virus RNA replication, helps to elucidate

  6. Protection of melon plants against Cucumber mosaic virus infection ...

    African Journals Online (AJOL)

    This study was carried out to characterize a virus causing severe mosaic, yellowing, stunting and leaf deformation on melon (Cucumis melo L.), and evaluate the capacity of Pseudomonas fluorescens as biofertilizer to improve plant growth and restrict the accumulation of the virus in the plant. The virus was identified as an ...

  7. Introduction to the World Wide Web and Mosaic

    Science.gov (United States)

    Youngblood, Jim

    1994-01-01

    This tutorial provides an introduction to some of the terminology related to the use of the World Wide Web and Mosaic. It is assumed that the user has some prior computer experience. References are included to other sources of additional information.

  8. Bemisia tabaci : the whitefly vector of cassava mosaic geminiviruses ...

    African Journals Online (AJOL)

    The ecology of the Bemisia tabaci/cassava/African cassava mosaic virus (ACMV) pathosystem is reviewed briefly with special attention given to the parameters affecting the pattern of population development of B. tabaci. Significant gaps in our understanding of this system remain, particularly concerning the importance of ...

  9. gmos: Rapid Detection of Genome Mosaicism over Short Evolutionary Distances.

    Science.gov (United States)

    Domazet-Lošo, Mirjana; Domazet-Lošo, Tomislav

    2016-01-01

    Prokaryotic and viral genomes are often altered by recombination and horizontal gene transfer. The existing methods for detecting recombination are primarily aimed at viral genomes or sets of loci, since the expensive computation of underlying statistical models often hinders the comparison of complete prokaryotic genomes. As an alternative, alignment-free solutions are more efficient, but cannot map (align) a query to subject genomes. To address this problem, we have developed gmos (Genome MOsaic Structure), a new program that determines the mosaic structure of query genomes when compared to a set of closely related subject genomes. The program first computes local alignments between query and subject genomes and then reconstructs the query mosaic structure by choosing the best local alignment for each query region. To accomplish the analysis quickly, the program mostly relies on pairwise alignments and constructs multiple sequence alignments over short overlapping subject regions only when necessary. This fine-tuned implementation achieves an efficiency comparable to an alignment-free tool. The program performs well for simulated and real data sets of closely related genomes and can be used for fast recombination detection; for instance, when a new prokaryotic pathogen is discovered. As an example, gmos was used to detect genome mosaicism in a pathogenic Enterococcus faecium strain compared to seven closely related genomes. The analysis took less than two minutes on a single 2.1 GHz processor. The output is available in fasta format and can be visualized using an accessory program, gmosDraw (freely available with gmos).

  10. Pepino mosaic virus isolates and differential symptomatology in tomato

    NARCIS (Netherlands)

    Hanssen, I.M.; Paeleman, A.; Vandewoestijne, E.; Bergen, Van L.; Bragard, C.; Lievens, B.; Vanachter, A.C.R.C.; Thomma, B.P.H.J.

    2009-01-01

    Based on a survey conducted in commercial tomato production in Belgium in 2006, four Pepino mosaic virus (PepMV) isolates that differed in symptom expression in the crop of origin were selected for greenhouse trials. The selected isolates were inoculated onto tomato plants grown in four separate

  11. Orthophoto Mosaic (2012) for Fish Bay, St. John

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This 0.3x0.3 meter imagery mosaic of Fish Bay, St. John in the U.S. Virgin Islands was created by the National Oceanic and Atmospheric Administration (NOAA) using a...

  12. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

    NARCIS (Netherlands)

    Jonkman, MF; Scheffer, H; Stulp, R; Pas, HH; Nijenhuis, Albertine; Heeres, K; Owaribe, K; Pulkkinen, L; Uitto, J

    1997-01-01

    Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene

  13. Protocol for cost effective detection of cassava mosaic virus ...

    African Journals Online (AJOL)

    Early detection of cassava mosaic disease (CMD) is an extremely important step in containing the spread of the disease in Africa. Many nucleic acid based detection tools have been developed for CMD diagnosis but although these methods are specific and sensitive for their target DNA, they are not fast, cost effective, can't ...

  14. Controlled transmission of African cassava mosaic virus (ACMV) by ...

    African Journals Online (AJOL)

    Jatropha curcas, a plant with great biodiesel potential is also used to reduce the population of whiteflies, Bemisia tabaci on cassava fields when planted as a hedge. We therefore, investigated the transmission of African cassava mosaic virus (ACMV) by the whitefly vector from cassava to seedlings of 10 accessions of J.

  15. Cowpea mosaic virus: effects on host cell processes

    NARCIS (Netherlands)

    Pouwels, J.; Carette, J.E.; Lent, van J.; Wellink, J.E.

    2002-01-01

    Taxonomy: Cowpea mosaic virus (CPMV) is the type member of the Comoviridae and bears a strong resemblance to animal picornaviruses, both in gene organization and in the amino acid sequence of replication proteins. Little systematic work has been done to compare isolates of the virus from different

  16. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, Anette D; Ousager, Lilian Bomme

    2018-01-01

    mutation using Sanger sequencing. Analyzing her DNA by NGS HHT panel sequencing when extracted from both peripheral blood leukocytes, and cheek swabs, identified the familial ENG mutation at low levels. CONCLUSION: We provide evidence of ENG mutational mosaicism in an individual presenting with clinical...

  17. 181 Farmers Adoption Scenarios for the Control of Cassava Mosaic ...

    African Journals Online (AJOL)

    Journal Seek, Scientific Commons, http://journal.aesonnigeria. ... the Cassava Enterprise Development Project in Enugu State, Nigeria ... emptive management of the cassava mosaic disease in the eleven cassava growing states of the ..... facilitators. Therefore, for farmers to adopt this innovation, adequate sustainable plan.

  18. Recent characterization of cowpea aphid-borne mosaic virus ...

    African Journals Online (AJOL)

    Woodiness disease is the most important disorder of passion fruit worldwide. The causal agent in Brazil is the Cowpea aphid-borne mosaic virus (CABMV), and despite the economic relevance of passion fruit for agriculture there have been recently very few studies about this virus in Brazil and worldwide. This work reveals ...

  19. RNAi-derived transgenic resistance to Mungbean yellow mosaic India virus in cowpea.

    Science.gov (United States)

    Kumar, Sanjeev; Tanti, Bhaben; Patil, Basavaprabhu L; Mukherjee, Sunil Kumar; Sahoo, Lingaraj

    2017-01-01

    Cowpea is an important grain legume crop of Africa, Latin America, and Southeast Asia. Leaf curl and golden mosaic diseases caused by Mungbean yellow mosaic India virus (MYMIV) have emerged as most devastating viral diseases of cowpea in Southeast Asia. In this study, we employed RNA interference (RNAi) strategy to control cowpea-infecting MYMIV. For this, we generated transgenic cowpea plants harbouring three different intron hairpin RNAi constructs, containing the AC2, AC4 and fusion of AC2 and AC4 (AC2+AC4) of seven cowpea-infecting begomoviruses. The T0 and T1 transgenic cowpea lines of all the three constructs accumulated transgene-specific siRNAs. Transgenic plants were further assayed up to T1 generations, for resistance to MYMIV using agro-infectious clones. Nearly 100% resistance against MYMIV infection was observed in transgenic lines, expressing AC2-hp and AC2+AC4-hp RNA, when compared with untransformed controls and plants transformed with empty vectors, which developed severe viral disease symptoms within 3 weeks. The AC4-hp RNA expressing lines displayed appearance of milder symptoms after 5 weeks of MYMIV-inoculation. Northern blots revealed a positive correlation between the level of transgene-specific siRNAs accumulation and virus resistance. The MYMIV-resistant transgenic lines accumulated nearly zero or very low titres of viral DNA. The transgenic cowpea plants had normal phenotype with no yield penalty in greenhouse conditions. This is the first demonstration of RNAi-derived resistance to MYMIV in cowpea.

  20. Characterization of a Brome mosaic virus strain and its use as a vector for gene silencing in monocotyledonous hosts.

    Science.gov (United States)

    Ding, Xin Shun; Schneider, William L; Chaluvadi, Srinivasa Rao; Mian, M A Rouf; Nelson, Richard S

    2006-11-01

    Virus-induced gene silencing (VIGS) is used to analyze gene function in dicotyledonous plants but less so in monocotyledonous plants (particularly rice and corn), partially due to the limited number of virus expression vectors available. Here, we report the cloning and modification for VIGS of a virus from Festuca arundinacea Schreb. (tall fescue) that caused systemic mosaic symptoms on barley, rice, and a specific cultivar of maize (Va35) under greenhouse conditions. Through sequencing, the virus was determined to be a strain of Brome mosaic virus (BMV). The virus was named F-BMV (F for Festuca), and genetic determinants that controlled the systemic infection of rice were mapped to RNAs 1 and 2 of the tripartite genome. cDNA from RNA 3 of the Russian strain of BMV (R-BMV) was modified to accept inserts from foreign genes. Coinoculation of RNAs 1 and 2 from F-BMV and RNA 3 from R-BMV expressing a portion of a plant gene to leaves of barley, rice, and maize plants resulted in visual silencing-like phenotypes. The visual phenotypes were correlated with decreased target host transcript levels in the corresponding leaves. The VIGS visual phenotype varied from maintained during silencing of actin 1 transcript expression to transient with incomplete penetration through affected tissue during silencing of phytoene desaturase expression. F-BMV RNA 3 was modified to allow greater accumulation of virus while minimizing virus pathogenicity. The modified vector C-BMV(A/G) (C for chimeric) was shown to be useful for VIGS. These BMV vectors will be useful for analysis of gene function in rice and maize for which no VIGS system is reported.

  1. Advocacy for eye care

    Directory of Open Access Journals (Sweden)

    Thulasiraj D Ravilla

    2012-01-01

    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.

  2. Characterization of Large Structural Genetic Mosaicism in Human Autosomes

    Science.gov (United States)

    Machiela, Mitchell J.; Zhou, Weiyin; Sampson, Joshua N.; Dean, Michael C.; Jacobs, Kevin B.; Black, Amanda; Brinton, Louise A.; Chang, I-Shou; Chen, Chu; Chen, Constance; Chen, Kexin; Cook, Linda S.; Crous Bou, Marta; De Vivo, Immaculata; Doherty, Jennifer; Friedenreich, Christine M.; Gaudet, Mia M.; Haiman, Christopher A.; Hankinson, Susan E.; Hartge, Patricia; Henderson, Brian E.; Hong, Yun-Chul; Hosgood, H. Dean; Hsiung, Chao A.; Hu, Wei; Hunter, David J.; Jessop, Lea; Kim, Hee Nam; Kim, Yeul Hong; Kim, Young Tae; Klein, Robert; Kraft, Peter; Lan, Qing; Lin, Dongxin; Liu, Jianjun; Le Marchand, Loic; Liang, Xiaolin; Lissowska, Jolanta; Lu, Lingeng; Magliocco, Anthony M.; Matsuo, Keitaro; Olson, Sara H.; Orlow, Irene; Park, Jae Yong; Pooler, Loreall; Prescott, Jennifer; Rastogi, Radhai; Risch, Harvey A.; Schumacher, Fredrick; Seow, Adeline; Setiawan, Veronica Wendy; Shen, Hongbing; Sheng, Xin; Shin, Min-Ho; Shu, Xiao-Ou; VanDen Berg, David; Wang, Jiu-Cun; Wentzensen, Nicolas; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Yi-Long; Xia, Lucy; Yang, Hannah P.; Yang, Pan-Chyr; Zheng, Wei; Zhou, Baosen; Abnet, Christian C.; Albanes, Demetrius; Aldrich, Melinda C.; Amos, Christopher; Amundadottir, Laufey T.; Berndt, Sonja I.; Blot, William J.; Bock, Cathryn H.; Bracci, Paige M.; Burdett, Laurie; Buring, Julie E.; Butler, Mary A.; Carreón, Tania; Chatterjee, Nilanjan; Chung, Charles C.; Cook, Michael B.; Cullen, Michael; Davis, Faith G.; Ding, Ti; Duell, Eric J.; Epstein, Caroline G.; Fan, Jin-Hu; Figueroa, Jonine D.; Fraumeni, Joseph F.; Freedman, Neal D.; Fuchs, Charles S.; Gao, Yu-Tang; Gapstur, Susan M.; Patiño-Garcia, Ana; Garcia-Closas, Montserrat; Gaziano, J. Michael; Giles, Graham G.; Gillanders, Elizabeth M.; Giovannucci, Edward L.; Goldin, Lynn; Goldstein, Alisa M.; Greene, Mark H.; Hallmans, Goran; Harris, Curtis C.; Henriksson, Roger; Holly, Elizabeth A.; Hoover, Robert N.; Hu, Nan; Hutchinson, Amy; Jenab, Mazda; Johansen, Christoffer; Khaw, Kay-Tee; Koh, Woon-Puay; Kolonel, Laurence N.; Kooperberg, Charles; Krogh, Vittorio; Kurtz, Robert C.; LaCroix, Andrea; Landgren, Annelie; Landi, Maria Teresa; Li, Donghui; Liao, Linda M.; Malats, Nuria; McGlynn, Katherine A.; McNeill, Lorna H.; McWilliams, Robert R.; Melin, Beatrice S.; Mirabello, Lisa; Peplonska, Beata; Peters, Ulrike; Petersen, Gloria M.; Prokunina-Olsson, Ludmila; Purdue, Mark; Qiao, You-Lin; Rabe, Kari G.; Rajaraman, Preetha; Real, Francisco X.; Riboli, Elio; Rodríguez-Santiago, Benjamín; Rothman, Nathaniel; Ruder, Avima M.; Savage, Sharon A.; Schwartz, Ann G.; Schwartz, Kendra L.; Sesso, Howard D.; Severi, Gianluca; Silverman, Debra T.; Spitz, Margaret R.; Stevens, Victoria L.; Stolzenberg-Solomon, Rachael; Stram, Daniel; Tang, Ze-Zhong; Taylor, Philip R.; Teras, Lauren R.; Tobias, Geoffrey S.; Viswanathan, Kala; Wacholder, Sholom; Wang, Zhaoming; Weinstein, Stephanie J.; Wheeler, William; White, Emily; Wiencke, John K.; Wolpin, Brian M.; Wu, Xifeng; Wunder, Jay S.; Yu, Kai; Zanetti, Krista A.; Zeleniuch-Jacquotte, Anne; Ziegler, Regina G.; de Andrade, Mariza; Barnes, Kathleen C.; Beaty, Terri H.; Bierut, Laura J.; Desch, Karl C.; Doheny, Kimberly F.; Feenstra, Bjarke; Ginsburg, David; Heit, John A.; Kang, Jae H.; Laurie, Cecilia A.; Li, Jun Z.; Lowe, William L.; Marazita, Mary L.; Melbye, Mads; Mirel, Daniel B.; Murray, Jeffrey C.; Nelson, Sarah C.; Pasquale, Louis R.; Rice, Kenneth; Wiggs, Janey L.; Wise, Anastasia; Tucker, Margaret; Pérez-Jurado, Luis A.; Laurie, Cathy C.; Caporaso, Neil E.; Yeager, Meredith; Chanock, Stephen J.

    2015-01-01

    Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10−31) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population. PMID:25748358

  3. Aquaporins in the Eye

    DEFF Research Database (Denmark)

    Tran, Thuy Linh; Hamann, Steffen; Heegaard, Steffen

    2017-01-01

    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....

  4. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    Directory of Open Access Journals (Sweden)

    Guillaume Jedraszak

    2015-01-01

    Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  5. COMPUTER APPROACHES TO WHEAT HIGH-THROUGHPUT PHENOTYPING

    Directory of Open Access Journals (Sweden)

    Afonnikov D.

    2012-08-01

    Full Text Available The growing need for rapid and accurate approaches for large-scale assessment of phenotypic characters in plants becomes more and more obvious in the studies looking into relationships between genotype and phenotype. This need is due to the advent of high throughput methods for analysis of genomes. Nowadays, any genetic experiment involves data on thousands and dozens of thousands of plants. Traditional ways of assessing most phenotypic characteristics (those with reliance on the eye, the touch, the ruler are little effective on samples of such sizes. Modern approaches seek to take advantage of automated phenotyping, which warrants a much more rapid data acquisition, higher accuracy of the assessment of phenotypic features, measurement of new parameters of these features and exclusion of human subjectivity from the process. Additionally, automation allows measurement data to be rapidly loaded into computer databases, which reduces data processing time.In this work, we present the WheatPGE information system designed to solve the problem of integration of genotypic and phenotypic data and parameters of the environment, as well as to analyze the relationships between the genotype and phenotype in wheat. The system is used to consolidate miscellaneous data on a plant for storing and processing various morphological traits and genotypes of wheat plants as well as data on various environmental factors. The system is available at www.wheatdb.org. Its potential in genetic experiments has been demonstrated in high-throughput phenotyping of wheat leaf pubescence.

  6. About the Eye

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    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 ...

  7. Diabetic Eye Problems

    Science.gov (United States)

    ... 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 ...

  8. About the Eye

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    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 ... Stuff Cool Eye Tricks Links to More Information Optical Illusions Printables ... Optic nerve (OP-tic nurv) is the bundle of more than 1 million nerve fibers that carry visual messages from the retina to ...

  11. What Is Dry Eye?

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    Full Text Available ... month dissolvable punctal plug be removed or pushed down the tear duct to insert a permanent punctal ... Your Eyelid Nov 29, 2017 New Dry Eye Treatment is a Tear-Jerker Jul 21, 2017 Three ...

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    Full Text Available ... the Scientific Director Office of the Clinical Director Laboratories, Sections and Units Division of Epidemiology and Clinical ... System Your Eyes’ Natural Defenses Eye Health and Safety First Aid Tips Healthy Vision Tips Protective Eyewear ...

  13. Eye Involvement in TSC

    Science.gov (United States)

    ... 50% of the individuals with TSC have normal intelligence, and inasmuch as these individuals may become parents, ... of vision may be difficult or impossible. Since growth and change of TSC lesions in the eye ...

  14. What Is Dry Eye?

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    Full Text Available ... EyeCare America Help IRIS Registry Medicare Physician Payment Meetings and Deadlines Museum of Vision Ophthalmology Job Center ... Ophthalmology Guide Find an Ophthalmologist Advanced Search Annual Meeting Clinical Education Practice Management Member Services Advocacy Foundation ...

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    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 ...

  16. Amblyopia: Lazy Eye Treatment

    Science.gov (United States)

    ... with Myopia Aug 31, 2017 Eye Injuries from Laundry Packets On the Rise Jun 30, 2017 Combating ... with Industry Medical Disclaimer Privacy Policy Terms of Service For Advertisers For Media Ophthalmology Job Center © American ...

  17. Amblyopia: Lazy Eye Diagnosis

    Science.gov (United States)

    ... with Myopia Aug 31, 2017 Eye Injuries from Laundry Packets On the Rise Jun 30, 2017 Combating ... with Industry Medical Disclaimer Privacy Policy Terms of Service For Advertisers For Media Ophthalmology Job Center © American ...

  18. What Is Dry Eye?

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    Full Text Available ... Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Academy Publications EyeNet Ophthalmology ... Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Find an Ophthalmologist Advanced ...

  19. About the Eye

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  1. What Is Dry Eye?

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    Full Text Available ... of tears or tear film . How do tears work? When you blink, a film of tears spreads ... Get ophthalmologist-reviewed tips and information about eye health and preserving your vision. Privacy Policy Related Please ...

  2. What Is Dry Eye?

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    Full Text Available ... treated? Jan 28, 2016 Find an Ophthalmologist Advanced Search Ask an Ophthalmologist Browse Answers Free Newsletter Get ophthalmologist-reviewed tips and information about eye health and preserving your vision. Privacy ...

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  7. About the Eye

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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 ...

  8. What Is Dry Eye?

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  11. Using Eye Makeup

    Science.gov (United States)

    ... harmful chemicals. Before applying makeup, be sure your face and eyelids are very clean. Always apply makeup outside the lash line, away from the eye, to avoid blocking the oil glands of the upper or lower ...

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  13. About the Eye

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    Full Text Available ... of visual function, preservation of sight, and the special health problems and requirements of the blind.” News & ... Emily Y. Chew, M.D., Deputy Clinical Director Education Programs National Eye Health Education Program (NEHEP) Diabetic ...

  14. About the Eye

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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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  17. Eye and orbit ultrasound

    Science.gov (United States)

    ... Images Head and eye echoencephalogram References Coleman DJ, Silverman RH, Lloyd HO, Daly S. Evaluation of the posterior ... Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial ...

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    Full Text Available ... information about eye health and preserving your vision. Privacy Policy Related Please Don’t Shave the Inside ... the Academy Financial Relationships with Industry Medical Disclaimer Privacy Policy Terms of Service For Advertisers For Media ...

  1. What Is Dry Eye?

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    Full Text Available ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global ... an Ophthalmologist Patient Stories Español Eye Health / ...

  2. What Is Dry Eye?

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    Full Text Available ... of tears or tear film . How do tears work? When you blink, a film of tears spreads ... eyes don’t make enough tears or something affects one or more layers of the tear film. ...

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    Full Text Available ... Learn how the different parts of your eye work together so you can see and make sense of the world around you. ... Social Media Policies and Other Important Links NEI Employee Emergency Information ...

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  5. About the Eye

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    Full Text Available ... are made up of many different parts that work together to help you see. Check out the diagrams ... Learn how the different parts of your eye work together so you can see and make sense of ...

  6. Eye Injuries at Home

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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 ...

  7. About the Eye

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    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 ...

  8. What Is Dry Eye?

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  9. About the Eye

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    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 ...

  10. Fish eye optics

    Czech Academy of Sciences Publication Activity Database

    Hudec, René; Michalová, S.

    2017-01-01

    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

  11. Danish Rural Eye Study

    DEFF Research Database (Denmark)

    Høeg, Tracy Beth; Ellervik, Christina; Buch, Helena

    2016-01-01

    , 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...

  12. Pink Eye: What To Do

    Centers for Disease Control (CDC) Podcasts

    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.

  13. Photoreactivation of DNA-containing cauliflower mosaic virus and tobacco mosaic virus RNA on Datura

    International Nuclear Information System (INIS)

    Towill, L.; Huang, C.W.; Gordon, M.P.

    1977-01-01

    Datura stramonium L. is a local lesion host for TMV-RNA and DNA-containing cauliflower mosaic virus (CAMV). Datura can photorepair UV-damaged TMV-RNA and CAMV, giving photoreactivation sectors of 0.40 and 0.33, respectively. Dose response curves for photoreactivation of TMV-RNA and CAMV showed that 45 to 60 min of cool white light (15 W.m -2 ) was required for maximum photoreactivation. Blue light and near UV were equally effective in photoreactivating UV-irradiated TMV-RNA, whereas near UV was initially more effective than blue light for the photorepair of UV-inactivated CAMV. Higher doses of near UV apparently inactivated the CAMV photorepair system. In the case of CAMV, photoreactivating light had to be applied immediately after inoculation with the virus. Two to three hours of incubation in the dark after inoculation resulted in complete loss of response to photoreactivating irradiation. In contrast, limited photoreactivation of TMV-RNA occurred even after 4 h of dark incubation after inoculation, although photoreactivating irradiation was most effective when applied immediately after inoculation. Light was required for the maintenance of photoreactivation for both TMV-RNA and CAMV. Daturas placed in the dark for six days lost their ability to photoreactivate. Recovery of the TMV-RNA photorepair system was rapid; complete recovery attained with 90 or more min of white light (15 W.m -2 ). Recovery of CAMV photorepair system was slow; 90% recovery attained after only 20 h of light. However, full recovery could be induced by as little as 6 h of light when CAMV was inoculated 24 h after the onset of illumination. These results suggest two photorepair systems are present in Datura. (author)

  14. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.

    Science.gov (United States)

    Lim, Han Hyuk; Kil, Hong Ryang; Koo, Sun Hoe

    2017-05-09

    Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on the abnormality of the X. Moreover, spontaneous pregnancy is uncommon (XXX karyotype is extremely rare. Previous reports have demonstrated that TS with 45,X/47,XXX is less severe than common TS due to higher occurrence of puberty (83%), menarche (57-67%), and fertility (14%) and lower occurrence of congenital anomalies (XXX mosaicism who presented with short stature. She showed mild TS phenotype including short stature but had spontaneous puberty. Based on our case and previous reports, we expect that girls with 45,X/47,XXX mosaicism may progress through puberty normally, without estrogen therapy. Therefore, it is necessary to consider specific guidelines for clinical decisions surrounding pubertal development and fertility in TS with 45,X/47,XXX karyotype. © 2017 Wiley Periodicals, Inc.

  15. NASA's "Eyes" Focus on Education

    Science.gov (United States)

    Hussey, K.

    2016-12-01

    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.

  16. Association of a cucumber mosaic virus strain with mosaic disease of banana, Musa paradisiaca--an evidence using immuno/nucleic acid probe.

    Science.gov (United States)

    Srivastava, A; Raj, S K; Haq, Q M; Srivastava, K M; Singh, B P; Sane, P V

    1995-12-01

    Virus causing severe chlorosis/mosaic disease of banana was identified as a strain of cucumber mosaic virus (CMV). Association of CMV with the disease was established by Western immunoblot using polyclonal antibodies to CMV-T and slot blot hybridization with nucleic acid probe of CMV-P genome.

  17. A new ophiovirus is associated with blueberry mosaic disease.

    Science.gov (United States)

    Thekke-Veetil, Thanuja; Ho, Thien; Keller, Karen E; Martin, Robert R; Tzanetakis, Ioannis E

    2014-08-30

    Blueberry mosaic disease (BMD) was first described more than 60 years ago and is caused by a yet unidentified graft transmissible agent. A combination of traditional methods and next generation sequencing disclosed the presence of a new ophiovirus in symptomatic plants. The virus was detected in all BMD samples collected from several production areas of North America and was thus named blueberry mosaic associated virus. Phylogenetic analysis, supported by high bootstrap values, places the virus within the family Ophioviridae. The genome organization resembles that of citrus psorosis virus, the type member of the genus Ophiovirus. The implications of this discovery in BMD control and blueberry virus certification schemes are also discussed. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. Ion Transport through Diffusion Layer Controlled by Charge Mosaic Membrane

    Directory of Open Access Journals (Sweden)

    Akira Yamauchi

    2012-01-01

    Full Text Available The kinetic transport behaviors in near interface of the membranes were studied using commercial anion and cation exchange membrane and charge mosaic membrane. Current-voltage curve gave the limiting current density that indicates the ceiling of conventional flux. From chronopotentiometry above the limiting current density, the transition time was estimated. The thickness of boundary layer was derived with conjunction with the conventional limiting current density and the transition time from steady state flux. On the other hand, the charge mosaic membrane was introduced in order to examine the ion transport on the membrane surface in detail. The concentration profile was discussed by the kinetic transport number with regard to the water dissociation (splitting on the membrane surface.

  19. Visualization and interaction tools for aerial photograph mosaics

    Science.gov (United States)

    Fernandes, João Pedro; Fonseca, Alexandra; Pereira, Luís; Faria, Adriano; Figueira, Helder; Henriques, Inês; Garção, Rita; Câmara, António

    1997-05-01

    This paper describes the development of a digital spatial library based on mosaics of digital orthophotos, called Interactive Portugal, that will enable users both to retrieve geospatial information existing in the Portuguese National System for Geographic Information World Wide Web server, and to develop local databases connected to the main system. A set of navigation, interaction, and visualization tools are proposed and discussed. They include sketching, dynamic sketching, and navigation capabilities over the digital orthophotos mosaics. Main applications of this digital spatial library are pointed out and discussed, namely for education, professional, and tourism markets. Future developments are considered. These developments are related to user reactions, technological advancements, and projects that also aim at delivering and exploring digital imagery on the World Wide Web. Future capabilities for site selection and change detection are also considered.

  20. Autologous serum eye drops for dry eye

    Science.gov (United States)

    Pan, Qing; Angelina, Adla; Marrone, Michael; Stark, Walter J; Akpek, Esen K

    2017-01-01

    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

  1. Cucurbits depicted in Byzantine mosaics from Israel, 350–600 ce

    Science.gov (United States)

    Avital, Anat; Paris, Harry S.

    2014-01-01

    Background and Aims Thousands of floor mosaics were produced in lands across the Roman and Byzantine empires. Some mosaics contain depictions of agricultural produce, potentially providing useful information concerning the contemporary presence and popularity of crop plants in a particular geographical region. Hundreds of floor mosaics produced in Israel during the Byzantine period have survived. The objective of the present work was to search these mosaics for Cucurbitaceae in order to obtain a more complete picture of cucurbit crop history in the eastern Mediterranean region. Results and Conclusions Twenty-three mosaics dating from 350–600 ce were found that had images positively identifiable as cucurbits. The morphological diversity of the cucurbit fruits in the mosaics of Israel is greater than that appearing in mosaics from any other Roman or Byzantine provincial area. The depicted fruits vary in shape from oblate to extremely long, and some are furrowed, others are striped and others lack definite markings. The cucurbit taxa depicted in the mosaics are Cucumis melo (melon), Citrullus lanatus (watermelon), Luffa aegyptiaca (sponge gourd) and Lagenaria siceraria (bottle gourd). Cucumis melo is the most frequently found taxon in the mosaics and is represented by round dessert melons and long snake melons. Fruits of at least two cultivars of snake melons and of watermelons are represented. To our knowledge, images of sponge gourds have not been found in Roman and Byzantine mosaics elsewhere. Indeed, the mosaics of Israel contain what are probably the oldest depictions of Luffa aegyptiaca in Mediterranean lands. Sponge gourds are depicted often, in 11 of the mosaics at eight localities, and the images include both mature fruits, which are useful for cleaning and washing, and immature fruits, which are edible. Only one mosaic has images positively identifiable as of bottle gourds, and these were round–pyriform and probably used as vessels. PMID:24948671

  2. Cucurbits depicted in Byzantine mosaics from Israel, 350-600 ce.

    Science.gov (United States)

    Avital, Anat; Paris, Harry S

    2014-08-01

    Thousands of floor mosaics were produced in lands across the Roman and Byzantine empires. Some mosaics contain depictions of agricultural produce, potentially providing useful information concerning the contemporary presence and popularity of crop plants in a particular geographical region. Hundreds of floor mosaics produced in Israel during the Byzantine period have survived. The objective of the present work was to search these mosaics for Cucurbitaceae in order to obtain a more complete picture of cucurbit crop history in the eastern Mediterranean region. Twenty-three mosaics dating from 350-600 ce were found that had images positively identifiable as cucurbits. The morphological diversity of the cucurbit fruits in the mosaics of Israel is greater than that appearing in mosaics from any other Roman or Byzantine provincial area. The depicted fruits vary in shape from oblate to extremely long, and some are furrowed, others are striped and others lack definite markings. The cucurbit taxa depicted in the mosaics are Cucumis melo (melon), Citrullus lanatus (watermelon), Luffa aegyptiaca (sponge gourd) and Lagenaria siceraria (bottle gourd). Cucumis melo is the most frequently found taxon in the mosaics and is represented by round dessert melons and long snake melons. Fruits of at least two cultivars of snake melons and of watermelons are represented. To our knowledge, images of sponge gourds have not been found in Roman and Byzantine mosaics elsewhere. Indeed, the mosaics of Israel contain what are probably the oldest depictions of Luffa aegyptiaca in Mediterranean lands. Sponge gourds are depicted often, in 11 of the mosaics at eight localities, and the images include both mature fruits, which are useful for cleaning and washing, and immature fruits, which are edible. Only one mosaic has images positively identifiable as of bottle gourds, and these were round-pyriform and probably used as vessels. © The Author 2014. Published by Oxford University Press on behalf of

  3. Integrity of the cone photoreceptor mosaic in oligocone trichromacy

    DEFF Research Database (Denmark)

    Michaelides, Michel; Rha, Jungtae; Dees, Elise W

    2011-01-01

    Oligocone trichromacy (OT) is an unusual cone dysfunction syndrome characterized by reduced visual acuity, mild photophobia, reduced amplitude of the cone electroretinogram with normal rod responses, normal fundus appearance, and normal or near-normal color vision. It has been proposed that these...... that these patients have a reduced number of normal functioning cones (oligocone). This paper has sought to evaluate the integrity of the cone photoreceptor mosaic in four patients previously described as having OT....

  4. Radiation of ultrarelativistic particles passing through ideal and mosaic crystals

    International Nuclear Information System (INIS)

    Afanas'ev, A.M.

    1977-01-01

    When a charged particle passes through an ideal crystal, then besides the transition radiation, a new kind of radiation, connected with the periodic structure of the crystal is produced. The influence of mosaic structure of a crystal on the intensity of this radiation is considered. Simple analytical expressions for the integral intensity of this radiation for the case of an ideal crystal are obtained. The results show, that the integral radiation intensity depends weakly on the degree of crystal perfection

  5. New Multibeam Bathymetry Mosaic at NOAA/NCEI

    Science.gov (United States)

    Varner, J. D.; Cartwright, J.; Rosenberg, A. M.; Amante, C.; Sutherland, M.; Jencks, J. H.

    2017-12-01

    NOAA's National Centers for Environmental Information (NCEI) maintains an ever-growing archive of multibeam bathymetric data acquired from U.S. and international government and academic sources. The data are partitioned in the individual survey files in which they were originally received, and are stored in various formats not directly accessible by popular analysis and visualization tools. In order to improve the discoverability and accessibility of the data, NCEI created a new Multibeam Bathymetry Mosaic. Each survey was gridded at 3 arcsecond cell size and organized in an ArcGIS mosaic dataset, which was published as a set of standards-based web services usable in desktop GIS and web clients. In addition to providing a "seamless" grid of all surveys, a filter can be applied to isolate individual surveys. Both depth values in meters and shaded relief visualizations are available. The product represents the current state of the archive; no QA/QC was performed on the data before being incorporated, and the mosaic will be updated incrementally as new surveys are added to the archive. We expect the mosaic will address customer needs for visualization/extraction that existing tools (e.g. NCEI's AutoGrid) are unable to meet, and also assist data managers in identifying problem surveys, missing data, quality control issues, etc. This project complements existing efforts such as the Global Multi-Resolution Topography Data Synthesis (GMRT) at LDEO. Comprehensive visual displays of bathymetric data holdings are invaluable tools for seafloor mapping initiatives, such as Seabed 2030, that will aid in minimizing data collection redundancies and ensuring that valuable data are made available to the broadest community.

  6. Protein synthesis directed by cowpea mosaic virus RNAs

    International Nuclear Information System (INIS)

    Stuik, E.

    1979-01-01

    The thesis concerns the proteins synthesized under direction of Cowpea mosaic virus RNAs. Sufficient radioactive labelling of proteins was achieved when 35 S as sulphate was administered to intact Vigna plants, cultivated in Hoagland solution. The large polypeptides synthesized under direction of B- and M-RNA are probably precursor molecules from which the coat proteins are generated by a mechanism of posttranslational cleavage. (Auth.)

  7. Proteins synthesized in tobacco mosaic virus infected protoplasts

    International Nuclear Information System (INIS)

    Huber, R.

    1979-01-01

    The author deals with research on the multiplication of tobacco mosaic virus (TMV) in leaf cell protoplasts. An attempt is made to answer three questions: (1) Which proteins are synthesized in TMV infected protoplasts as a result of TMV multiplication. (2) Which of the synthesized proteins are made under the direction of the TMV genome and, if any, which of the proteins are host specific. (3) In which functions are these proteins involved. (Auth.)

  8. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    Science.gov (United States)

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

  9. gmos: Rapid Detection of Genome Mosaicism over Short Evolutionary Distances.

    Directory of Open Access Journals (Sweden)

    Mirjana Domazet-Lošo

    Full Text Available Prokaryotic and viral genomes are often altered by recombination and horizontal gene transfer. The existing methods for detecting recombination are primarily aimed at viral genomes or sets of loci, since the expensive computation of underlying statistical models often hinders the comparison of complete prokaryotic genomes. As an alternative, alignment-free solutions are more efficient, but cannot map (align a query to subject genomes. To address this problem, we have developed gmos (Genome MOsaic Structure, a new program that determines the mosaic structure of query genomes when compared to a set of closely related subject genomes. The program first computes local alignments between query and subject genomes and then reconstructs the query mosaic structure by choosing the best local alignment for each query region. To accomplish the analysis quickly, the program mostly relies on pairwise alignments and constructs multiple sequence alignments over short overlapping subject regions only when necessary. This fine-tuned implementation achieves an efficiency comparable to an alignment-free tool. The program performs well for simulated and real data sets of closely related genomes and can be used for fast recombination detection; for instance, when a new prokaryotic pathogen is discovered. As an example, gmos was used to detect genome mosaicism in a pathogenic Enterococcus faecium strain compared to seven closely related genomes. The analysis took less than two minutes on a single 2.1 GHz processor. The output is available in fasta format and can be visualized using an accessory program, gmosDraw (freely available with gmos.

  10. Hellenistic mosaic glass vessels in Bohemia and Moravia

    Czech Academy of Sciences Publication Activity Database

    Venclová, Natalie; Hulínský, V.; Jonášová, Šárka; Frána, Jaroslav; Fikrle, Marek; Vaculovič, T.

    2015-01-01

    Roč. 67, č. 2 (2015), s. 213-238 ISSN 0323-1267 R&D Projects: GA ČR(CZ) GA14-25396S Grant - others:GA MŠk(CZ) ED1.1.00/02.0068 Program:ED Institutional support: RVO:67985912 ; RVO:67985831 ; RVO:61389005 Keywords : mosaic glass vessels * Late La Tène period * Mediterranean imports Subject RIV: AC - Archeology, Anthropology, Ethnology

  11. Hsp90 selectively modulates phenotype in vertebrate development.

    Directory of Open Access Journals (Sweden)

    Patricia L Yeyati

    2007-03-01

    Full Text Available Compromised heat shock protein 90 (Hsp90 function reveals cryptic phenotypes in flies and plants. These observations were interpreted to suggest that this molecular stress-response chaperone has a capacity to buffer underlying genetic variation. Conversely, the protective role of Hsp90 could account for the variable penetrance or severity of some heritable developmental malformations in vertebrates. Using zebrafish as a model, we defined Hsp90 inhibitor levels that did not induce a heat shock response or perturb phenotype in wild-type strains. Under these conditions the severity of the recessive eye phenotype in sunrise, caused by a pax6b mutation, was increased, while in dreumes, caused by a sufu mutation, it was decreased. In another strain, a previously unobserved spectrum of severe structural eye malformations, reminiscent of anophthalmia, microphthalmia, and nanophthalmia complex in humans, was uncovered by this limited inhibition of Hsp90 function. Inbreeding of offspring from selected unaffected carrier parents led to significantly elevated malformation frequencies and revealed the oligogenic nature of this phenotype. Unlike in Drosophila, Hsp90 inhibition can decrease developmental stability in zebrafish, as indicated by increased asymmetric presentation of anophthalmia, microphthalmia, and nanophthalmia and sunrise phenotypes. Analysis of the sunrise pax6b mutation suggests a molecular mechanism for the buffering of mutations by Hsp90. The zebrafish studies imply that mild perturbation of Hsp90 function at critical developmental stages may underpin the variable penetrance and expressivity of many developmental anomalies where the interaction between genotype and environment plays a major role.

  12. Detectable clonal mosaicism and its relationship to aging and cancer

    Science.gov (United States)

    Jacobs, Kevin B; Yeager, Meredith; Zhou, Weiyin; Wacholder, Sholom; Wang, Zhaoming; Rodriguez-Santiago, Benjamin; Hutchinson, Amy; Deng, Xiang; Liu, Chenwei; Horner, Marie-Josephe; Cullen, Michael; Epstein, Caroline G; Burdett, Laurie; Dean, Michael C; Chatterjee, Nilanjan; Sampson, Joshua; Chung, Charles C; Kovaks, Joseph; Gapstur, Susan M; Stevens, Victoria L; Teras, Lauren T; Gaudet, Mia M; Albanes, Demetrius; Weinstein, Stephanie J; Virtamo, Jarmo; Taylor, Philip R; Freedman, Neal D; Abnet, Christian C; Goldstein, Alisa M; Hu, Nan; Yu, Kai; Yuan, Jian-Min; Liao, Linda; Ding, Ti; Qiao, You-Lin; Gao, Yu-Tang; Koh, Woon-Puay; Xiang, Yong-Bing; Tang, Ze-Zhong; Fan, Jin-Hu; Aldrich, Melinda C; Amos, Christopher; Blot, William J; Bock, Cathryn H; Gillanders, Elizabeth M; Harris, Curtis C; Haiman, Christopher A; Henderson, Brian E; Kolonel, Laurence N; Le Marchand, Loic; McNeill, Lorna H; Rybicki, Benjamin A; Schwartz, Ann G; Signorello, Lisa B; Spitz, Margaret R; Wiencke, John K; Wrensch, Margaret; Wu, Xifeng; Zanetti, Krista A; Ziegler, Regina G; Figueroa, Jonine D; Garcia-Closas, Montserrat; Malats, Nuria; Marenne, Gaelle; Prokunina-Olsson, Ludmila; Baris, Dalsu; Schwenn, Molly; Johnson, Alison; Landi, Maria Teresa; Goldin, Lynn; Consonni, Dario; Bertazzi, Pier Alberto; Rotunno, Melissa; Rajaraman, Preetha; Andersson, Ulrika; Freeman, Laura E Beane; Berg, Christine D; Buring, Julie E; Butler, Mary A; Carreon, Tania; Feychting, Maria; Ahlbom, Anders; Gaziano, J Michael; Giles, Graham G; Hallmans, Goran; Hankinson, Susan E; Hartge, Patricia; Henriksson, Roger; Inskip, Peter D; Johansen, Christoffer; Landgren, Annelie; McKean-Cowdin, Roberta; Michaud, Dominique S; Melin, Beatrice S; Peters, Ulrike; Ruder, Avima M; Sesso, Howard D; Severi, Gianluca; Shu, Xiao-Ou; Visvanathan, Kala; White, Emily; Wolk, Alicja; Zeleniuch-Jacquotte, Anne; Zheng, Wei; Silverman, Debra T; Kogevinas, Manolis; Gonzalez, Juan R; Villa, Olaya; Li, Donghui; Duell, Eric J; Risch, Harvey A; Olson, Sara H; Kooperberg, Charles; Wolpin, Brian M; Jiao, Li; Hassan, Manal; Wheeler, William; Arslan, Alan A; Bas Bueno-de-Mesquita, H; Fuchs, Charles S; Gallinger, Steven; Gross, Myron D; Holly, Elizabeth A; Klein, Alison P; LaCroix, Andrea; Mandelson, Margaret T; Petersen, Gloria; Boutron-Ruault, Marie-Christine; Bracci, Paige M; Canzian, Federico; Chang, Kenneth; Cotterchio, Michelle; Giovannucci, Edward L; Goggins, Michael; Bolton, Judith A Hoffman; Jenab, Mazda; Khaw, Kay-Tee; Krogh, Vittorio; Kurtz, Robert C; McWilliams, Robert R; Mendelsohn, Julie B; Rabe, Kari G; Riboli, Elio; Tjønneland, Anne; Tobias, Geoffrey S; Trichopoulos, Dimitrios; Elena, Joanne W; Yu, Herbert; Amundadottir, Laufey; Stolzenberg-Solomon, Rachael Z; Kraft, Peter; Schumacher, Fredrick; Stram, Daniel; Savage, Sharon A; Mirabello, Lisa; Andrulis, Irene L; Wunder, Jay S; García, Ana Patiño; Sierrasesúmaga, Luis; Barkauskas, Donald A; Gorlick, Richard G; Purdue, Mark; Chow, Wong-Ho; Moore, Lee E; Schwartz, Kendra L; Davis, Faith G; Hsing, Ann W; Berndt, Sonja I; Black, Amanda; Wentzensen, Nicolas; Brinton, Louise A; Lissowska, Jolanta; Peplonska, Beata; McGlynn, Katherine A; Cook, Michael B; Graubard, Barry I; Kratz, Christian P; Greene, Mark H; Erickson, Ralph L; Hunter, David J; Thomas, Gilles; Hoover, Robert N; Real, Francisco X; Fraumeni, Joseph F; Caporaso, Neil E; Tucker, Margaret; Rothman, Nathaniel; Pérez-Jurado, Luis A; Chanock, Stephen J

    2012-01-01

    In an analysis of 31,717 cancer cases and 26,136 cancer-free controls drawn from 13 genome-wide association studies (GWAS), we observed large chromosomal abnormalities in a subset of clones from DNA obtained from blood or buccal samples. Mosaic chromosomal abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of size >2 Mb were observed in autosomes of 517 individuals (0.89%) with abnormal cell proportions between 7% and 95%. In cancer-free individuals, the frequency increased with age; 0.23% under 50 and 1.91% between 75 and 79 (p=4.8×10−8). Mosaic abnormalities were more frequent in individuals with solid-tumors (0.97% versus 0.74% in cancer-free individuals, OR=1.25, p=0.016), with a stronger association for cases who had DNA collected prior to diagnosis or treatment (OR=1.45, p=0.0005). Detectable clonal mosaicism was common in individuals for whom DNA was collected at least one year prior to diagnosis of leukemia compared to cancer-free individuals (OR=35.4, p=3.8×10−11). These findings underscore the importance of the role and time-dependent nature of somatic events in the etiology of cancer and other late-onset diseases. PMID:22561519

  13. Enabling Large Focal Plane Arrays Through Mosaic Hybridization

    Science.gov (United States)

    Miller, Timothy M.; Jhabvala, Christine A.; Leong, Edward; Costen, Nicholas P.; Sharp, Elmer; Adachi, Tomoko; Benford, Dominic J.

    2012-01-01

    We have demonstrated advances in mosaic hybridization that will enable very large format far-infrared detectors. Specifically we have produced electrical detector models via mosaic hybridization yielding superconducting circuit paths by hybridizing separately fabricated sub-units onto a single detector unit. The detector model was made on a 100mm diameter wafer while four model readout quadrant chips were made from a separate 100mm wafer. The individually fabricated parts were hybridized using a flip-chip bonder to assemble the detector-readout stack. Once all of the hybridized readouts were in place, a single, large and thick silicon substrate was placed on the stack and attached with permanent epoxy to provide strength and a Coefficient of Thermal Expansion match to the silicon components underneath. Wirebond pads on the readout chips connect circuits to warm readout electronics; and were used to validate the successful superconducting electrical interconnection of the model mosaic-hybrid detector. This demonstration is directly scalable to 150 mm diameter wafers, enabling pixel areas over ten times the area currently available.

  14. LANDSAT M. S. S. IMAGE MOSAIC OF TUNISIA.

    Science.gov (United States)

    Boswell-Thomas, J. C.; ,

    1984-01-01

    The Landsat mosaic of Tunisia funded by USAID for the Remote Sensing Laboratory, Soils Division, Ministry of Agriculture, Tunisia, was completed by the USGS in September 1983. It is a mixed mosaic associating digital corrections and enhancements to manual mosaicking and corresponding to the Tunisian request for high resolution and the limited available funds. The scenes were processed by the Environmental Research Institute of Michigan, resampling the data geodesically corrected to fit the Universal Transverse Mercator projection using control points from topographic maps at 1:50,000 and 1:100,000 scales available in the U. S. The mosaicking was done in the Eastern Mapping Center under the supervision of the Graphic Arts System Section. The three black and white mosaics were made at the 1:1,000,000 scale and various products generated. They included color film positives at 1:2,000,000 and 1:4,000,000 scales reproducible in the Remote Sensing Laboratory in Tunis and corresponding color prints as well as tricolor prints at various scales from 1:500,000 to 1:2,000,000.

  15. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

    Science.gov (United States)

    Karadima, G; Bugge, M; Nicolaidis, P; Vassilopoulos, D; Avramopoulos, D; Grigoriadou, M; Albrecht, B; Passarge, E; Annerén, G; Blennow, E; Clausen, N; Galla-Voumvouraki, A; Tsezou, A; Kitsiou-Tzeli, S; Hahnemann, J M; Hertz, J M; Houge, G; Kuklík, M; Macek, M; Lacombe, D; Miller, K; Moncla, A; López Pajares, I; Patsalis, P C; Petersen, M B

    1998-01-01

    Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

  16. An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

    Directory of Open Access Journals (Sweden)

    J. Carter

    2017-01-01

    Full Text Available Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An additional small ring chromosome was detected in 5/30 cells examined via G-banding. Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21.6 Mb deletion. Further microarray studies in the proband using a different microarray platform showed no evidence of mosaicism. This case highlights the importance of an integrated approach to cytogenetic analysis and demonstrates the value of G-banding for detecting mosaicism, as current microarray platforms are unable to detect low level mosaics.

  17. Expression of Cucumber mosaic virus suppressor 2b alters FWA methylation and its siRNA accumulation in Arabidopsis thaliana

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    Sadia Hamera

    2016-11-01

    Full Text Available The Cucumber mosaic virus (CMV suppressor 2b co-localizes with AGO4 in cytoplasmic and nuclear fractions of Arabidopsis thaliana. Biochemical fractionation of A. thaliana cellular extracts revealed that 2b and AGO4 coexist in multiple size exclusions. 2b transgenic A. thaliana exhibited an enhanced accumulation of 24nt siRNAs from flowering wageningen (FWA and other heterochromatic loci. These plants also exhibited hypo-methylation of an endogenous- as well as transgene-FWA promoter at non-CG sites. In corroboration, both transgenic 2b and CMV infection affected the regulation of transposons which mimics the ago4 phenotype. In conclusion, 2b perturbs plant defense by interfering with AGO4-regulated transcriptional gene silencing.

  18. Velvet bean severe mosaic virus: a distinct begomovirus species causing severe mosaic in Mucuna pruriens (L.) DC.

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    Zaim, Mohammad; Kumar, Yogesh; Hallan, Vipin; Zaidi, A A

    2011-08-01

    Velvet bean [Mucuna pruriens (L.) DC] is one of the most important medicinal plants. It is used to treat many ailments, but is widely used for the treatment especially for Parkinson's disease because of the presence of 3,4-dihydroxyphenylalanine (L-dopa) in it. It was noticed in last 5 years that the plants in the field showed severe mosaic, downward curling of the leaves, stunting, etc. This is consistently observed over the years in India. The disease was transmitted by whiteflies and by grafting and the causal agent was found to be a bipartite begomovirus. The whole genome was amplified by rolling circle amplification (RCA) using ϕ-29 DNA polymerase and characterized. DNA-A and DNA-B shared a 124-nucleotide (nt) long highly conserved (98%) common region (CR). Comparisons with other begomovirus showed that DNA-A sequence has highest identity (76%) with an isolate of Mungbean yellow mosaic India virus (MYMIV; AY937195) reported from India. This data suggested that the present isolate is a new species of genus Begomovirus for which the name "Velvet bean severe mosaic virus" (VbSMV) is proposed. DNA-B has a maximum sequence identity of 49% with an isolate of Horsegram yellow mosaic virus (HgYMV; AM932426) reported from India. Infectious clones consisting of a 1.7 mer partial tandem repeat of DNA-A and a dimer of DNB-B were constructed and agro-inoculated to Macuna pruriens (L.) DC plants, which showed field observed symptoms 24 days post-infiltration (dpi). In phylogenetic analysis, DNA-A and DNA-B of the present isolate grouped with DNA-A of different begomoviruses reported from fabaceous crops. The study presents first ever molecular evidence of any disease in velvet bean and whole genome analysis of the causative virus which is a distinct bipartite species of Begomovirus.

  19. Eye colour as a genetic marker for fertility and fecundity of Triatoma infestans (Klug, 1834 Hemiptera, Reduviidae, Triatominae

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    Pires Herton Helder Rocha

    2002-01-01

    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.

  20. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

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    Francesca Romana Grati

    2014-07-01

    Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.