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Sample records for amaurosis fugax

  1. Molecular genetics of Leber congenital amaurosis.

    NARCIS (Netherlands)

    Cremers, F.P.M.; Hurk, J.A.J.M. van den; Hollander, A.I. den

    2002-01-01

    Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients. These genes are expressed pref

  2. IQCB1 mutations in patients with leber congenital amaurosis

    NARCIS (Netherlands)

    Estrada-Cuzcano, A.; Koenekoop, R.K.; Coppieters, F.; Kohl, S.; Lopez, I.; Collin, R.W.J.; Baere, E.B. De; Roeleveld, D.; Marek, J.; Bernd, A.; Rohrschneider, K.; Born, L.I. van den; Meire, F.; Maumenee, I.H.; Jacobson, S.G.; Hoyng, C.B.; Zrenner, E.; Cremers, F.P.M.; Hollander, A.I. den

    2011-01-01

    PURPOSE: Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for approximately 70% of LCA patients. The aim of the present study was to identify new genetic causes of LCA. METHODS: Homozygosity mapping in >150 LCA patients of worldwide orig

  3. Sequential treatment for proctalgia fugax: Mid-term follow-up Tratamiento secuencial para la proctalgia fugaz: Resultados a medio plazo

    OpenAIRE

    J. A. Gracia Solanas; J. M. Ramírez Rodríguez; M. Elía Guedea; V. Aguilella Diago; M. Martínez Díez

    2005-01-01

    Introduction: proctalgia fugax (PF) is a benign, self-limiting disease characterized by episodes of intense anorectal pain at frequent intervals in the absence of organic proctological disease. Even though PF was described more than a century ago, its etiology remains unclear. Currently there is no information available. Few papers quoting many ways of management have been published. The aim of this study was to investigate patients complaining of this condition and to treat them with sequent...

  4. Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients

    OpenAIRE

    Melillo Paolo; Pecchia Leandro; Testa Francesco; Rossi Settimio; Bennett Jean; Simonelli Francesca

    2012-01-01

    Abstract Background Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information about the visual reflex pathway and has been adopted to quantify visual impairment in patients with Leber Congenital Amaurosis (LCA). In this paper, we describe detailed methods of pupillome...

  5. Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients

    Directory of Open Access Journals (Sweden)

    Melillo Paolo

    2012-07-01

    Full Text Available Abstract Background Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information about the visual reflex pathway and has been adopted to quantify visual impairment in patients with Leber Congenital Amaurosis (LCA. In this paper, we describe detailed methods of pupillometric analysis and a case study on three Italian patients affected by Leber Congenital Amaurosis (LCA involved in a gene therapy clinical trial at two follow-up time-points: 1 year and 3 years after therapy administration. Methods Pupillary light reflexes (PLR were measured in patients who had received a unilateral subretinal injection in a clinical gene therapy trial. Pupil images were recorded simultaneously in both eyes with a commercial pupillometer and related software. A program was generated with MATLAB software in order to enable enhanced pupil detection with revision of the acquired images (correcting aberrations due to the inability of these severely visually impaired patients to fixate, and computation of the pupillometric parameters for each stimulus. Pupil detection was performed through Hough Transform and a non-parametric paired statistical test was adopted for comparison. Results The developed program provided correct pupil detection also for frames in which the pupil is not totally visible. Moreover, it provided an automatic computation of the pupillometric parameters for each stimulus and enabled semi-automatic revision of computerized detection, eliminating the need for the user to manually check frame by frame. With reference to the case study, the amplitude of pupillary constriction and the constriction velocity were increased in the right (treated eye compared to the left (untreated eye at both follow-up time-points, showing stability of

  6. 棒头草对16种夏熟作物田常用除草剂的敏感性%Sensitivity of Polypogon fugax to 16 Herbicides Frequently Used in Summer-Harvest Crops

    Institute of Scientific and Technical Information of China (English)

    鄢志会; 曾婷婷; 吴宪; 李俊; 陈国奇; 董立尧

    2015-01-01

    Polypogon fugax is a common weed in summer-harvest crop fields in China,even being the principal weed in some areas.A series of whole-plant bioassays were conducted to test the response of P.fugax to five pre-emergence and 11 post-emergence herbicides frequently used in summer-harvest crops.The EC90 doses ( caused 90% inhibition of the fresh weight) of the five pre-emergence herbicides ( active ingredient) to P.fugax were 6.58 g acetochlor/hm2 , 1 900 g trifluralin/hm2 ,120 g diflufenican/hm2 ,1 560 g isoproturon/hm2 and 3 373 g chlorotoluron/hm2 .The EC90 dose of acetochlor to P.fugax was much lower than its recommended low dose and that of diflufenican was lower than its recommended high dose, while those of trifluralin, chlorotoluron and isoproturon were higher than the recommended high doses,especially for trifluralin and chlorotoluron.The EC90 doses of 11 pre-emergence herbicides to P.fugax were clethodim 11 . 9 g/hm2 , mesosulfuron - methyl 4.16 g/hm2 , pyroxsulam 12.6 g/hm2 , pinoxaden 21.5 g/hm2 , haloxyfop -P -methyl 81.8 g/hm2 , fenoxaprop-P-ethyl 20.15 g/hm 2,quizalofop-P-ethyl 6.77 g/hm 2,fluazifop-P-butyl 32.6 g/hm 2,flucarbazone-sodium 176 g /hm2 , clodinafop -propargyl 20.15 g/hm2 , and sethoxydim 90.0 g/hm2 .Among the 11 post-emergence herbicides,only flucarbazone-sodium and haloxyfop-P-methyl had EC90 doses higher than the rec-ommended high dose.Therefore,acetochlor and diflufenican as pre-emergence herbicides and the 11 post-emergence herbicides except for flucarbazone-sodium and haloxyfop-P-methyl could be used to control P.fugax effectively, while paying special attention to the selectivity of the different herbicides to the crop .%棒头草( Polypogon fugax)是我国夏熟作物田常见杂草,在一些地区已成为主要杂草。采用整株生物测定法研究了棒头草对夏熟作物田常用的5种土壤处理和11种茎叶处理除草剂的敏感性。结果表明,5种土壤处理剂对棒头草抑制地上部分生长90

  7. Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese

    Science.gov (United States)

    Wang, Shi-Yuan; Zhang, Qi; Zhang, Xiang; Zhao, Pei-Quan

    2016-01-01

    AIM To make a comprehensive analysis of the potential pathogenic genes related with Leber congenital amaurosis (LCA) in Chinese. METHODS LCA subjects and their families were retrospectively collected from 2013 to 2015. Firstly, whole-exome sequencing was performed in patients who had underwent gene mutation screening with nothing found, and then homozygous sites was selected, candidate sites were annotated, and pathogenic analysis was conducted using softwares including Sorting Tolerant from Intolerant (SIFT), Polyphen-2, Mutation assessor, Condel, and Functional Analysis through Hidden Markov Models (FATHMM). Furthermore, Gene Ontology function and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses of pathogenic genes were performed followed by co-segregation analysis using Fisher exact Test. Sanger sequencing was used to validate single-nucleotide variations (SNVs). Expanded verification was performed in the rest patients. RESULTS Totally 51 LCA families with 53 patients and 24 family members were recruited. A total of 104 SNVs (66 LCA-related genes and 15 co-segregated genes) were submitted for expand verification. The frequencies of homozygous mutation of KRT12 and CYP1A1 were simultaneously observed in 3 families. Enrichment analysis showed that the potential pathogenic genes were mainly enriched in functions related to cell adhesion, biological adhesion, retinoid metabolic process, and eye development biological adhesion. Additionally, WFS1 and STAU2 had the highest homozygous frequencies. CONCLUSION LCA is a highly heterogeneous disease. Mutations in KRT12, CYP1A1, WFS1, and STAU2 may be involved in the development of LCA. PMID:27672588

  8. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

    Science.gov (United States)

    Astuti, Galuh D N; Bertelsen, Mette; Preising, Markus N; Ajmal, Muhammad; Lorenz, Birgit; Faradz, Sultana M H; Qamar, Raheel; Collin, Rob W J; Rosenberg, Thomas; Cremers, Frans P M

    2016-07-01

    Leber congenital amaurosis (LCA) represents the most severe form of inherited retinal dystrophies with an onset during the first year of life. Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D. In addition, sequence analysis of LRAT and RPE65 may be important in view of treatments that are emerging for patients carrying variants in these genes. Screening of the aforementioned variants and genes was performed in 64 Danish LCA probands. Upon the identification of heterozygous variants, Sanger sequencing was performed of the relevant genes to identify the second allele. In combination with prior arrayed primer extension analysis, this led to the identification of two variants in 42 of 86 cases (49%). Remarkably, biallelic RPE65 variants were identified in 16% of the cases, and one novel variant, p.(D110G), was found in seven RPE65 alleles. We also collected all previously published RPE65 variants, identified in 914 alleles of 539 patients with LCA or early-onset retinitis pigmentosa, and deposited them in the RPE65 Leiden Open Variation Database (LOVD). The in silico pathogenicity assessment of the missense and noncanonical splice site variants, as well as an analysis of their frequency in ~60 000 control individuals, rendered 864 of the alleles to affect function or probably affect function. This comprehensive database can now be used to select patients eligible for gene augmentation or retinoid supplementation therapies. PMID:26626312

  9. Sequential treatment for proctalgia fugax: Mid-term follow-up Tratamiento secuencial para la proctalgia fugaz: Resultados a medio plazo

    Directory of Open Access Journals (Sweden)

    J. A. Gracia Solanas

    2005-07-01

    Full Text Available Introduction: proctalgia fugax (PF is a benign, self-limiting disease characterized by episodes of intense anorectal pain at frequent intervals in the absence of organic proctological disease. Even though PF was described more than a century ago, its etiology remains unclear. Currently there is no information available. Few papers quoting many ways of management have been published. The aim of this study was to investigate patients complaining of this condition and to treat them with sequential therapy. Patients and methods: we devised a descriptive, prospective study of patients complaining of acute perianal pain -duration less than 30 minutes- without organic disease or previous perianal surgery since 1996 to 2002 in our Department. We treated these patients using a three-step treatment (1: information, hip bath, benzodiazepines; 2: sublingual nifedipine 10 mg, or topic 0.1% nitroglycerin on demand; 3: internal anal sphincterotomy if hypertrophy of the internal anal sphincter was demonstrated by anal ultrasonography and no improvement was confirmed with the previous steps of treatment. We defined remarkable improvement as a decrease in the number of episodes by half or in pain intensity by 50%. Results: Fifteen patients with an average follow-up of 4 years. Anal endosonography confirmed a grossly thickened internal anal sphincter (IAS in 5 cases. After the first step of treatment 7 patients improved and 1 patient was cured; after the second step of treatment 3 patients improved and 1 was cured; the third step was applied to 3 patients with a thickened IAS; 1 patient improved and 1 patient was cured. Conclusion: a total resolution of PF is not always possible, but we may improve symptoms and their frequency. Almost 50% of patients in our series improved with the first step of treatment; 30% of our patients had IAS hypertrophy. Anal endosonography can help in the diagnosis of organic diseases or IAS hypertrophy, for which we can perform an

  10. Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy

    OpenAIRE

    Boye, Shannon E.; Wei-Chieh Huang; Roman, Alejandro J.; Alexander Sumaroka; Boye, Sanford L.; Ryals, Renee C.; Olivares, Melani B.; Qing Ruan; Tucker, Budd A.; Stone, Edwin M.; Anand Swaroop; Cideciyan, Artur V.; Hauswirth, William W.; Jacobson, Samuel G.

    2014-01-01

    Background Mutations in the CEP290 (cilia-centrosomal protein 290 kDa) gene in Leber congenital amaurosis (LCA) cause early onset visual loss but retained cone photoreceptors in the fovea, which is the potential therapeutic target. A cone-only mouse model carrying a Cep290 gene mutation, rd16;Nrl−/− , was engineered to mimic the human disease. In the current study, we determined the natural history of retinal structure and function in this murine model to permit design of pre-clinical proof-o...

  11. The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

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    Juan Hidalgo-de-Quintana

    Full Text Available The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1.The CytoTrapXR yeast two-hybrid system was used to screen a bovine retinal cDNA library. A novel interaction between AIPL1 and members of the family of EB proteins was confirmed by directed yeast two-hybrid analysis and co-immunoprecipitation assays. The localization of AIPL1 and the EB proteins in cultured cells and in retinal cryosections was examined by immunofluorescence microscopy and cryo-immunogold electron microscopy.Yeast two-hybrid (Y2H analysis identified the interaction between AIPL1 and the EB proteins, EB1 and EB3. EB1 and EB3 were specifically co-immunoprecipitated with AIPL1 from SK-N-SH neuroblastoma cells. In directed 1:1 Y2H analysis, the interaction of EB1 with AIPL1 harbouring the LCA-causing mutations A197P, C239R and W278X was severely compromised. Immunofluorescent confocal microscopy revealed that AIPL1 did not co-localize with endogenous EB1 at the tips of microtubules, endogenous EB1 at the microtubule organising centre following disruption of the microtubule network, or with endogenous β-tubulin. Moreover, AIPL1 did not localize to primary cilia in ARPE-19 cells, whereas EB1 co-localized with the centrosomal marker pericentrin at the base of primary cilia. However, both AIPL1 and the EB proteins, EB1 and EB3, co-localized with centrin-3 in the connecting cilium of photoreceptor cells. Cryo-immunogold electron microscopy confirmed the co-localization of AIPL1 and EB1 in the connecting cilia in human retinal photoreceptors.AIPL1 and the EB proteins, EB1 and EB3, localize at the connecting cilia of retinal photoreceptor cells, but do not co-localize in the cellular microtubule network or in primary cilia in non-retinal cells. These findings suggest that AIPL1 function in these cells is not related

  12. Progress in gene therapy study of Leber congenital amaurosis%Leber先天性黑矇的基因治疗研究进展

    Institute of Scientific and Technical Information of China (English)

    潘珊珊; 郑钦象; 李文生; 庞继景

    2011-01-01

    Leber congenital amaurosis (LCA)is an early onset retinal dystrophy that causes severe visual impairment. With the development of molecular genetics and the therapeutic gene replacement technology, the adeno-associated viral (AAV) vector-mediated gene therapy for LCA achieved encouraging progress in the past decade. The success of the Phase Ⅰ clinical trials of human RPE65 gene therapy for LCA Ⅱ patients makes it a pioneer in the field of retinal gene therapy and brings light to the cure of other hereditary retinopathy. This article briefly reviews the recent developments in the preclinical animal experiments and Phase Ⅰ clinical trials for LCA.%Leber先天性黑矇(LCA)是一种严重的先天性致肓遗传性视网膜疾病.近1O年来,随着分子遗传学的发展及基因治疗技术的进步,以腺相关病毒载体介导的LCA基因治疗研究取得了令人鼓舞的进展,尤其是对LCAⅡ患者进行的RPE65基因治疗的Ⅰ期临床试验的成功使其成为眼科遗传性疾病基因治疗领域中的先行者,为今后进行其他遗传性视网膜疾病的基因治疗开辟了光明的前景.本文就目前LCA基因治疗的临床前研究及Ⅰ期临床试验的进展等方面作一综述.

  13. Soluble urokinase-type plasminogen activator receptor forms in plasma as markers of atherosclerotic plaque vulnerability

    DEFF Research Database (Denmark)

    Olson, Fredrik J; Thurison, Tine; Ryndel, Mikael;

    2009-01-01

    PAR(II-III) (P=0.006) concentrations were higher after ischemic strokes and transient ischemic attacks, i.e., clinical subgroups associated with poorer prognosis and a less stable plaque phenotype, than after amaurosis fugax. Slightly elevated suPAR(I-III) levels were found in plasma from the carotid lesion...

  14. Current advance in genetics and clinical phenotype of Leber congenital amaurosis%Leber先天性黑矇致病基因及相关临床表型研究进展

    Institute of Scientific and Technical Information of China (English)

    王淑然

    2013-01-01

    Leber congenital amaurosis (LCA) is one of the main inherited retinal diseases causing congenital blindness.LCA is also characterized by genetic heterogeneity and variable clinical phenotypes.Recent years,a lot of molecular genetic studies related with its pathogenesis have been performed.So far,20 causative genes have been identified that account for LCA.Some correlations between genotype and clinical phenotype have also been found.Those specific clinical manifestations may help to identify the mutant gene that causes the LCA.This review summarized the causal genes,their roles in the pathogenesis of LCA,coupled with relationship between specific gene and Corresponding phenotype,which will assist the clinician in patient diagnosis and counseling.%Leber先天性黑矇(LCA)是导致先天性盲的主要遗传性视网膜疾病,具有遗传异质性与临床表型多样性的特点.近年来其分子遗传学研究成为国内外热点,相继明确了20个与LCA相关的致病基因.多项研究表明LCA的基因型和临床表型之间存在关联,了解不同致病基因对应的临床表型特点有助于致病基因的筛查.就当前发现的LCA致病基因、可能的发病机制以及特定基因型与临床表型的关系进行综述,以期有助于临床诊断和咨询.

  15. Spontaneous internal carotid dissection in a 38-year-old woman: a case report

    OpenAIRE

    Abed, Kareem; Misra, Amit; Vankawala, Viren

    2015-01-01

    This case report describes a patient found to have amaurosis fugax as a result of non-traumatic internal carotid dissection. Monocular blindness can be due to multiple causes including keratitis, acute glaucoma, vitreous hemorrhage, uveitis, retinal vascular occlusion, retinal detachment, optic neuropathy, trauma, or vascular malformations. In the setting of headache, neck pain, and an otherwise normal ophthalmic examination, this case report highlights the importance of recognizing transient...

  16. 'Crescendo' transient ischemic attacks: clinical and angiographic correlations.

    Science.gov (United States)

    Rothrock, J F; Lyden, P D; Yee, J; Wiederholt, W C

    1988-02-01

    Forty-seven consecutive patients presenting acutely with repetitive symptoms indicative of anterior circulation ischemia ("crescendo" transient ischemic attacks) were evaluated to identify clinical features that might reliably predict the presence of significant stenosis, ulceration, or both in the presumably symptomatic internal carotid artery. Angiographic or intraoperative correlation was obtained in all patients, and 26 (55%) were found to have anatomically significant disease. Of 20 patients with signs or symptoms suggestive of cortical ischemia, amaurosis fugax, or both, 17 (85%) had "positive" angiograms; of 18 with numbness/weakness only, 9 (50%) had positive angiograms; of 9 whose symptoms suggested lacunar ischemia, none had positive angiograms.

  17. Akut glaukom efter endarterektomi af arteria carotis interna

    DEFF Research Database (Denmark)

    Lindholt, Jes Sanddal; Klaerke, A

    2000-01-01

    A 71 year-old woman had 85% and 60% stenoses of the right and left internal carotid arteries, respectively. Right-sided endarterectomy was performed because of amaurosis fugax. Two days postoperatively, she developed classical symptoms and signs of acute glaucoma. Right-sided acute angle closure...... glaucoma was diagnosed by tonometry and gonioscopy, and treated with laser-iridectomy. The patient was discharged two days later without neurological or ophthalmological deficits. Manifest acute glaucoma postoperatively seems never to have been reported. However, the choroid is not autoregulated...

  18. Embolic and nonembolic transient monocular visual field loss: a clinicopathologic review.

    Science.gov (United States)

    Petzold, Axel; Islam, Niaz; Hu, Han-Hwa; Plant, Gordon T

    2013-01-01

    Transient monocular blindness and amaurosis fugax are umbrella terms describing a range of patterns of transient monocular visual field loss (TMVL). The incidence rises from ≈1.5/100,000 in the third decade of life to ≈32/100,000 in the seventh decade of life. We review the vascular supply of the retina that provides an anatomical basis for the types of TMVL and discuss the importance of collaterals between the external and internal carotid artery territories and related blood flow phenomena. Next, we address the semiology of TMVL, focusing on onset, pattern, trigger factors, duration, recovery, frequency-associated features such as headaches, and on tests that help with the important differential between embolic and non-embolic etiologies.

  19. Glucose-Dependent Insulinotropic Polypeptide (GIP) Stimulates Osteopontin Expression in the Vasculature via Endothelin-1 and CREB

    DEFF Research Database (Denmark)

    Berglund, Lisa M; Lyssenko, Valeriya; Ladenvall, Claes;

    2016-01-01

    ; and expression associates to parameters characteristic of unstable and inflammatory plaques (increased lipid accumulation, macrophage infiltration and reduced smooth muscle cell content). While GIPR expression is predominantly endothelial in healthy arteries from human, mouse, rat and pig; remarkable up......-regulation is observed in endothelial and smooth muscle cells upon culture conditions yielding a "vascular disease-like" phenotype. Moreover, a common variant rs10423928 in the GIPR gene associated with increased risk of stroke in type 2 diabetes patients....... in individuals with a history of cardiovascular disease (myocardial infarction, stroke) when compared to controls. GIP receptor (GIPR) and OPN mRNA levels are higher in carotid endarterectomies from patients with symptoms (stroke, transient ischemic attacks, amaurosis fugax) than in asymptomatic patients...

  20. Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

    DEFF Research Database (Denmark)

    Siemiatkowska, Anna M; van den Born, L Ingeborgh; van Genderen, Maria M;

    2014-01-01

    and associated phenotypes in different types of inherited retinal dystrophies. METHODS: DNA samples of 161 patients with LCA without genetic diagnosis were analyzed for variants in NMNAT1 using Sanger sequencing. Variants in exon 5 of NMNAT1, which harbors the majority of the previously identified mutations......, were screened in 532 additional patients with retinal dystrophies. This cohort encompassed 108 persons with isolated or autosomal recessive cone-rod dystrophy (CRD), 271 with isolated or autosomal recessive retinitis pigmentosa (RP), and 49 with autosomal dominant RP, as well as 104 persons with LCA......: Although macular atrophy can occur in LCA and CRD, no NMNAT1 mutations were found in the latter cohort. NMNAT1 variants were also not found in a large group of patients with sporadic or autosomal recessive RP. The enrichment of p.E257K in a heterozygous state in patients with LCA versus controls suggests...

  1. fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis.

    Directory of Open Access Journals (Sweden)

    Manzar Ashtari

    Full Text Available A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli. Previous reports regarding phosphenes have primarily focused on externally induced phosphenes such as by applying alternating or direct current to the cortex. A few of these reports used functional magnetic resonance (fMRI to study activations induced by cortical phosphenes. However, there are no fMRI reports on spontaneous phosphenes originating from the retina and the resulting pattern of cortical activations. We performed fMRI during a reversing checkerboard paradigm in three LCA patients who underwent unilateral gene therapy and reported experiencing frequent phosphene on a daily basis. We observed bilateral cortical activation covering the entire visual cortices when patients reported experiencing phosphenes. In contrast, in the absence of phosphenes, activation was regulated by patient's visual ability and demonstrated improved cortical activation due to gene therapy. These fMRI results illustrate the potential impact of phosphene perception on visual function and they may explain some of the variability that clinicians find in visual function testing in retinal degeneration. Although we did not perform correlations between visual function and phosphenes, we hope data presented here raises awareness of this phenomenon and its potential effect on visual function and the implications for clinical testing. We recommend a thorough history for phosphene experiences be taken in patients with retinal disease who are candidates for gene or molecular therapy. Lastly, these data illustrate the potential power of fMRI as an outcome measure of gene therapy and the negative impact phosphenes may have on vision testing. fMRI has proven to be a sensitive, non-invasive, and reproducible test paradigm for these purposes and can complement standard visual function testing.

  2. fMRI of Retina-Originated Phosphenes Experienced by Patients with Leber Congenital Amaurosis

    OpenAIRE

    Manzar Ashtari; Laura Cyckowski; Alborz Yazdi; Amanda Viands; Kathleen Marshall; István Bókkon; Albert Maguire; Jean Bennett

    2014-01-01

    A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli. Previous reports regarding phosphenes have primarily focused on externally induced phosphenes such as by applying alternating or direct current to the cortex. A few of these reports used functional magnetic resonance (fMRI) to study activations induced by cortical phosphenes. Howeve...

  3. Amaurose bilateral por menigoencefalite criptocócica: relato de caso Bilateral amaurosis due to cryptococcus meningoencephalitis: case report

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    Ricardo Evangelista Marrocos de Aragão

    2008-02-01

    Full Text Available Meningoencefalite criptocócica é infecção causada por um fungo denominado Cryptococcus neoformans. Duas formas são conhecidas: variação gattii e neoformans. A infecção antes da puberdade é rara. Cerca de metade dos pacientes apresentam algum estado imunossupressivo. O papiledema está presente em um terço dos pacientes por ocasião do diagnóstico. Relatamos um caso de meningoencefalite por criptococose em paciente de oito anos de idade, sem relato de doenças prévias, que evoluiu com amaurose bilateral. O diagnóstico foi confirmado por detecção do C. neoformans, var. gattii. O paciente foi tratado com anfotericina B e dexametasona. Na literatura existem poucos relatos de perda visual permanente após meningite por criptococose. A existência de um protocolo para tratamento de pacientes com papiledema é um fator determinante para evitar a perda visual.Cryptococcal meningitis is caused by the yeast Cryptococcus neoformans. Two varieties are recognized: var. gattii and var. neoformans. It is usually associated with immunosuppressive states, particularly HIV infection. Cryptococcal infection of the central nervous system is uncommon in immunocompetent children and difficult to diagnose. Ocular complications are common. Optic disc swelling was found in 33%. The following report describes a case of meningitis caused by C. neoformans var. gattii in an 8 year-old immunocompetent child who developed optic atrophy. The patient was treated with amphotericin B associated with corticosteroids. Possible therapeutic strategies aimed at reducing visual loss in cryptococcal meningitis have great importance to avoid this important morbidity.

  4. Orbital Osteoma With Gaze-Evoked Amaurosis%眶骨瘤伴凝视诱发黑蒙

    Institute of Scientific and Technical Information of China (English)

    Patrick Sibony; Maisie Shindo

    2005-01-01

    1例54岁 女性,右眼反复发作无痛性凝视诱发黑蒙3个月。在右眼外转20秒内,视野很快由周边向中心缩小。当恢复到第一眼位时,其视功能在30秒内又恢复正常。有鼻窦病史而无其他病史。

  5. The Protective Effects of Lycium Barbarum Polysaccharides on Transient Retinal Ischemia

    Directory of Open Access Journals (Sweden)

    Di Yang

    2011-05-01

    Full Text Available Retinal ischemia/reperfusion (I/R injury leads to irreversible neuronal death, glial activation, retinal swelling and oxidative stress. It is a common feature in various ocular diseases, such as glaucoma, diabetic retinopathy and amaurosis fugax. In the present study, we aimed to evaluate the effects of Lycium Barbarum Polysaccharides (LBP in a murine retinal I/R model. Mice were orally treated with either vehicle (PBS or LBP (1mg/kg daily for 1 week before induction of retinal ischemia. Retinae were collected after 2 hours ischemia and 22 hours reperfusion. Paraffin-embedded sections were prepared for immunohistochemical analyses. Significantly fewer viable cells were found in vehicle-treated retinae comparing to LBP group. This finding was further confirmed by TUNEL assay where significantly fewer apoptotic cells were identified in LBP-treated retinae. Additionally, retinal swelling induced by retinal I/R injury in the vehicle-treated group was not observed in LBP-treated group. Moreover, intense GFAP immunoreactivity and IgG extravasation were observed in vehicle-treated group but not in LBP treated group. The results showed that pre-treatment with LBP was protective in retinal I/R injury via reducing neuronal death, apoptosis, retinal swelling, GFAP activation and blood vessel leakage. LBP may be used as a preventive agent for retinal ischemia diseases.

  6. Fifty-eight cases of ocular ischemic diseases caused by carotid artery stenosis

    Institute of Scientific and Technical Information of China (English)

    LUO Rong-jiang; LIU Shao-rui; LI Xiao-min; ZHUO Ye-hong; TIAN Zhen

    2010-01-01

    Background The blood supply to the eye comes from the retinal central vascular system of the ophthalmic artery and the ciliary vascular system. The ophthalmic artery stems from the ipsilateral internal carotid artery. If occlusion or stenosis occurs in the carotid artery, the blood perfusion to the ophthalmic artery becomes insufficient, leading to signs and symptoms of anterior and posterior ocular ischemia. The objective of this study was to evaluate the clinical characteristics and risk factors of ocular ischemic diseases caused by carotid artery stenosis.Methods This study was a retrospective review of 145 patients with carotid artery stenosis. Fifty-eight patients who had symptoms of ocular ischemic disease caused by carotid artery stenosis formed group A and the other 87 patients who only had carotid artery stenosis formed group B. We analyzed the causes and course of disease, and relative risk factors,by comparing the two groups.Results The degree of carotid artery stenosis in group A was higher than that in group B. And group A had a greater decrease of ophthalmic artery flow. Male, hypertension, hyperlipidemia, and smoking were significantly related to carotid artery stenosis. Amaurosis fugax was the most common ocular symptom in group A. The ocular ischemic diseases mainly included ischemic optic neuropathy, central/branch retinal artery occlusion, ophthalmoplegia externa, and ocular ischemic syndrome.Conclusions Carotid artery stenosis correlates with ocular ischemic diseases. Ophthalmologists must observe for ocular symptoms, which were the onset symptoms in some patients.

  7. Dissection of internal carotid artery presenting as isolated ischaemic optic neuropathy

    Directory of Open Access Journals (Sweden)

    Serdar Oruc

    2016-08-01

    Full Text Available Carotid artery dissections are one of the important reasons of cerebrovascular events that are observed before the age of 45. Besides the local findings such as head, neck and face pains, Horner syndrome findings, pulsatile tinnitus and cranial nerve involvements, some other symptoms such as ischemic stroke, transient ischemic attacks and amaurosis fugax can also be observed in the approximately three quarters of patients. Ischemic optic neuropathy may be seen as %4 in the carotid artery dissections and it mostly accompanies other ischemic local symptoms. It is rare to observe the ischemic optic neuropathy as the first and unique finding in the carotid artery dissections. In this study, a 55 year old male patient with carotid artery dissection was represented. He did not have any other complaint, except the sudden unilateral visual loss and he was sent to our clinics from the opthalmology clinics in order to search for the etiology of ischemic optic neuropathy. It should be kept in mind that there can be a possibility to have carotid artery dissections in patients with unilateral visual loss.

  8. Venous Thromboembolism and Cerebrovascular Events in Patients with Giant Cell Arteritis: A Population-Based Retrospective Cohort Study.

    Directory of Open Access Journals (Sweden)

    Alberto Lo Gullo

    Full Text Available To investigate the incidence of venous thromboembolism (VTE and cerebrovascular events in a community-based incidence cohort of patients with giant cell arteritis (GCA compared to the general population.A population-based inception cohort of patients with incident GCA between January 1, 1950 and December 31, 2009 in Olmsted County, Minnesota and a cohort of non-GCA subjects from the same population were assembled and followed until December 31, 2013. Confirmed VTE and cerebrovascular events were identified through direct medical record review.The study population included 244 patients with GCA with a mean ± SD age at diagnosis of 76.2 ± 8.2 years (79% women and an average length of follow-up of 10.2 ± 6.8 years. Compared to non-GCA subjects of similar age and sex, patients diagnosed with GCA had a higher incidence (% of amaurosis fugax (cumulative incidence ± SE: 2.1 ± 0.9 versus 0, respectively; p = 0.014 but similar rates of stroke, transient ischemic attack (TIA, and VTE. Among patients with GCA, neither baseline characteristics nor laboratory parameters at diagnosis reliably predicted risk of VTE or cerebrovascular events.In this population-based study, the incidence of VTE, stroke and TIA was similar in patients with GCA compared to non-GCA subjects.

  9. Varied presentations of moyamoya disease in a tertiary care hospital of north-east India

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    Papori Borah

    2014-01-01

    Full Text Available Introduction: Moyamoya disease is a chronic progressive cerebrovascular disorder, characterized by stenosis or occlusion of bilateral internal carotid arteries (ICAs, anterior cerebral arteries (ACAs and middle cerebral arteries (MCAs, accompanied by a collateral network of vessels formed at the base of the brain. Ischemia and intracranial hemorrhage are the common typical manifestations. However moyamoya disease has been associated with atypical presentations like headache, seizures and involuntary movements. Although frequently reported from Asian countries like Japan, China and Korea, only few studies reported on clinical manifestations of moyamoya disease from India. Objectives: To study the varied presentations of moyamoya disease in a tertiary care hospital of north-east India. Material and Methods: Relevant investigations were done to rule out other causes of moyamoya syndrome. Results: We report 6 cases of moyamoya disease with varied presentations from a tertiary care referral government hospital. Case 1, 2 and 6 presented with alternating hemiparesis. Case 3 had amaurosis fugax. Case 4 had history suggestive of ischemic stroke and presented with hemichorea. Case 4 had focal seizure as the only manifestation. Cases 4 and 5 notably had stenosis of posterior cerebral artery (PCA in addition to stenosis of bilateral ICAs, ACAs and MCAs. Conclusion: Owing to its low incidence in India, moyamoya disease is easily overlooked as a possible diagnosis. However, because of its progressive nature, it is imperative to diagnose this disease early and offer surgical treatment to the patients.

  10. Computerized texture analysis of carotid plaque ultrasonic images can identify unstable plaques associated with ipsilateral neurological symptoms.

    Science.gov (United States)

    Kakkos, Stavros K; Nicolaides, Andrew N; Kyriacou, Efthyvoulos; Daskalopoulou, Stella S; Sabetai, Michael M; Pattichis, Constantinos S; Geroulakos, George; Griffin, Maura B; Thomas, Dafydd

    2011-05-01

    We estimated the value of objective, computerized texture analysis of ultrasonic images in distinguishing carotid plaques associated with neurological ipsilateral symptoms (amaurosis fugax [AmF; n = 30], transient ischemic attack [TIA; n = 52], and stroke [n = 55]) from asymptomatic plaques (n = 51). We performed 3 case-control studies (1/symptom with asymptomatic plaques as control). On logistic regression, AmF was independently associated with severity of stenosis, percentage of pixels with gray levels 0 to 10 (PPCS1; measure of echolucency), and spatial gray level dependence matrices (SGLDM) information measure of correlation (IMC-1; texture); TIAs with PPCS1 (echolucency), SGLDM correlation, and skewness (both texture); and stroke with PPCS1, SGLDM correlation, and percentage of pixels with gray levels 11 to 20 (PPCS2; echolucency). The area under the curve of the regression-derived predicted probability for AmF, TIA, and stroke was 0.92, 0.82, and 0.85, respectively (all P < .001). Texture analysis can identify carotid plaques associated with a neurological event, improving the diagnostic value of echolucency measures. Texture analyses could be applied to natural history studies. PMID:21474467

  11. The Application of Topical Anesthesia Combined with Subconjunctival Anesthesia for Glaucoma Surgery

    Institute of Scientific and Technical Information of China (English)

    Shengsong Huang; Minbin Yu; Jie Lian; Min Fan; Changyu Qiu

    2003-01-01

    Purpose: To evaluate the feasibility, reliability and analgesia effect of topical anesthesia combined with subconjunctival anesthesia in anti-glaucomatous surgery.Methods: Two hundred and four cases (357 eyes) underwent anti-glaucomatous surgeries under topical anesthesia with 0.5% Alcaine eye drops combined with subconjunctival anesthesia with 2% Lidocaine. The analgesic effect was analysed with visual analogue pain scale.Results: Among all of 357 eyes, 62 eyes underwent peripheral iridectomy, 67 eyes underwent simple trabeculectomy, 167 eyes underwent compound brabeculectomy and 12 eyes nonpenetrating trabecular surgery. The effects of anesthesia were as follows: 304 eyes(85.2%) were painless (Grade I ), 50 eyes (14.0%) were slight painful (Grade Ⅱ ), and 3 eyes (0.8%) were more painful (Grade Ⅲ ) during surgery. And no severe complications were observed in all the cases during surgery and postoperatively. Amaurosis fugax was not observed in the glaucoma patients at the late stage with narrow visual fields and poor visual ability.Conclusion: Topical anesthesia combined with subconjunctival anesthesia is effective,safe and simple anesthesia alternative in routine anti-glaucomatous surgery, especially for the glaucoma patients at the late stage with narrow visual fields and poor visual ability. It is worthy of being applied widely.

  12. [Hypercoagulable workup in ophthalmology. When and what].

    Science.gov (United States)

    Muñoz-Negrete, F J; Casas-Lleras, P; Pérez-López, M; Rebolleda, G

    2009-07-01

    Most ophthalmologic disorders secondary to hypercoagulabe state are due to the confluence of congenital and adquired factors. A systematic workup is mandatory. Most of congenital coagulation disorders cause venous trombosis and are inherited autosomal dominantly. In order of frequency these are factor V Leiden mutation (activated protein C resistance), G20210A mutation of the prothrombin gen and protein C, protein S, and antithrombin III deficiencies. Sickle cell anemia can determine arerial and venous thrombosis. In relation with arterial occlusion, the markers most frequently involved are homcysteine fasting levels and the markers of antiphospholipid antibody syndrome. Both of them can also determine venous thrombosis. Several acquired factors can lead to hypoercoagulable state, especially hyperhomocysteinemia, antiphospholipid antibody syndrome, hepatic disease, alcohol and tobacco intake, oral contraceptives, immobilization, surgeries and malignancies. In central venous occlusion is only necessary to rule out hyperhomocysteinemia and antiphospholipid antibody syndrome in young patients without known risk factors. In central artery occlusion, hypercoagulable workup is only recommended for patients less than 50 years-old with unknown emboli source. In this cases protein C, protein S, and antithrombin III deficiencies, homocystein, sickle cell disease and antiphospholipid antibody syndrome will ruled out. In non arteritic ischemic optic neuropathy hypercoagulable work up is not necessary. In amaurosis fugax without known emboli source, it is recommended to rule out etiologies of arterial occlusion, especially antithrombin III deficiencies, homocystein, sickle cell disease and antiphospholipid antibody syndrome. PMID:19658050

  13. Asymptomatic carotid stenosis: What we can learn from the next generation of randomized clinical trials

    Directory of Open Access Journals (Sweden)

    Mark N Rubin

    2014-04-01

    Full Text Available Stroke remains an exceedingly incident and prevalent public health burden across the globe, with an estimated 16 million new strokes per annum and prevalence over 60 million, and extracranial internal carotid artery atherosclerotic disease is an important risk factor for stroke. Randomized trials of surgical treatment were conducted (North American Symptomatic Carotid Endarterectomy Trial, European Carotid Surgery Trial and demonstrated efficacy of carotid endarterectomy for secondary prevention of stroke in patients with cerebrovascular events (e.g. ipsilateral stroke, transient ischemic attack, and/or amaurosis fugax attributable to a diseased artery with 50–99% stenosis. Therapeutic clarity, however, proved elusive with asymptomatic carotid artery disease. Asymptomatic Carotid Atherosclerosis Study (ACAS, Asymptomatic Carotid Surgery Trial, and Veterans Affairs Cooperative Study (VACS suggested only modest benefit from surgical intervention for primary stroke prevention and the best medical therapy at the time of these trials is not comparable to modern medical therapy. ACT-1, Asymptomatic Carotid Surgery Trial-2, Stent-Protected Angioplasty in asymptomatic Carotid artery stenosis versus Endarterectomy Trial-2, European Carotid Surgery Trial-2, Carotid Revascularization Endarterectomy Versus Stenting Trial-2 are trials that are recent, ongoing, or in development that include diverse populations across Europe and North America, complementary trial designs, and a collaborative spirit that should provide clinicians with evidence that informs best clinical practice for asymptomatic carotid artery disease.

  14. Spontaneous internal carotid dissection in a 38-year-old woman: a case report

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    Kareem Abed

    2015-10-01

    Full Text Available This case report describes a patient found to have amaurosis fugax as a result of non-traumatic internal carotid dissection. Monocular blindness can be due to multiple causes including keratitis, acute glaucoma, vitreous hemorrhage, uveitis, retinal vascular occlusion, retinal detachment, optic neuropathy, trauma, or vascular malformations. In the setting of headache, neck pain, and an otherwise normal ophthalmic examination, this case report highlights the importance of recognizing transient ischemic attack and carotid artery dissection in the differential diagnosis. To further clarify the diagnosis, carotid ultrasound may aid diagnosis as was seen in this case, where decreased internal carotid artery velocities were found and subsequent CT angiography of the neck confirmed a diagnosis of carotid dissection. If a dissection is present, progression of symptoms may indicate impending cerebral infarction and warrant immediate attention. Antiplatelet therapy is the first-line treatment with anticoagulation, thrombolysis, and surgery reserved for cases of recurrent, progressive symptomatic episodes. Surgical options include endovascular repair such as angioplasty, stent placement, embolization, surgical revascularization, and bypass.

  15. Spontaneous internal carotid dissection in a 38-year-old woman: a case report.

    Science.gov (United States)

    Abed, Kareem; Misra, Amit; Vankawala, Viren

    2015-01-01

    This case report describes a patient found to have amaurosis fugax as a result of non-traumatic internal carotid dissection. Monocular blindness can be due to multiple causes including keratitis, acute glaucoma, vitreous hemorrhage, uveitis, retinal vascular occlusion, retinal detachment, optic neuropathy, trauma, or vascular malformations. In the setting of headache, neck pain, and an otherwise normal ophthalmic examination, this case report highlights the importance of recognizing transient ischemic attack and carotid artery dissection in the differential diagnosis. To further clarify the diagnosis, carotid ultrasound may aid diagnosis as was seen in this case, where decreased internal carotid artery velocities were found and subsequent CT angiography of the neck confirmed a diagnosis of carotid dissection. If a dissection is present, progression of symptoms may indicate impending cerebral infarction and warrant immediate attention. Antiplatelet therapy is the first-line treatment with anticoagulation, thrombolysis, and surgery reserved for cases of recurrent, progressive symptomatic episodes. Surgical options include endovascular repair such as angioplasty, stent placement, embolization, surgical revascularization, and bypass. PMID:26486115

  16. Recent advances in early-onset severe retinal degeneration: more than just basic research?

    DEFF Research Database (Denmark)

    Preising, M. N.; Heegaard, S.

    2004-01-01

    ophthalmology, Leber's congenital amaurosis, phenotype, gene therapy, retina, degeneration, rewiew......ophthalmology, Leber's congenital amaurosis, phenotype, gene therapy, retina, degeneration, rewiew...

  17. Vasculitis cerebral cisticercosa y neuropatía óptica isquémica en una paciente con amaurosis unilateral y recuperación ad integrum

    OpenAIRE

    Enríquez Coronel,Guillermo; Santos Marcial,Edgar; Cabrera Aldana,Eibar Ernesto

    2004-01-01

    La cisticercosis es una parasitósis bien conocida que puede causar una gran cantidad de síndromes. La neuropatía isquémica-óptica es una enfermedad de adultos cuyas causas principales son hipertensión arterial y la diabetes y la arteritis de células gigantes. Presentamos el caso de una estudiante de medicina de 22 años que presentó súbitamente pérdida de la visión en el ojo derecho y después completa ceguera. Los estudios demostraron múltiples cisticercos en el hemisferio derecho. Fue tratada...

  18. Advantage of whole exome sequencing over allele-specific and targeted segment sequencing in detection of novel TULP1 mutation in leber congenital amaurosis

    DEFF Research Database (Denmark)

    Guo, Yiran; Prokudin, Ivan; Yu, Cong;

    2015-01-01

    by targeted segment sequencing of 61 regions in 14 causative genes was performed. Subsequently, exome sequencing was undertaken in the proband, unaffected consanguineous parents and two unaffected siblings. Bioinformatic analysis used two independent pipelines, BWA-GATK and SOAP, followed by Annovar and Snp...

  19. Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

    Science.gov (United States)

    Schockman, Samantha; Glueck, Charles J; Hutchins, Robert K; Patel, Jaykumar; Shah, Parth; Wang, Ping

    2015-01-01

    Aim This study aimed to assess the diagnostic ramifications of vascular occlusion of the ocular vein and artery as a first thrombotic event associated with factor V Leiden (FVL) and/or prothrombin gene (PTG) heterozygosity. Methods Patients with ocular vein (n=191) and artery (n=74) occlusion, free of cardioembolic etiologies, were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis and compared to 110 healthy normal controls. Results Of the 265 patients, 29 (11%; 17 women, 12 men) of all referred ocular vascular occlusion (OVO) cases were found to be heterozygous for FVL and/or PTG, including 16 with FVL, 12 with PTG, and 1 with both. Of the 29 cases, 16 had central retinal vein occlusion (CRVO), 2 branch retinal vein occlusion (BRVO), 5 nonarteritic anterior ischemic optic neuropathy (NA-AION), 3 retinal artery occlusion (RAO), 2 amaurosis fugax (AF), and 1 had both CRVO and RAO. Of the 16 FVL cases, 15 (94%) had OVO as a first thrombotic event without prior deep venous thrombosis (DVT) or pulmonary embolism (PE); 6 (38%) also had other thrombotic events, including recurrent miscarriage, osteonecrosis, ischemic stroke, and/or ischemic colitis; and 5 (31%) had immediate family members with previous venous thromboembolism (VTE). Of the 12 PTG cases, 9 (75%) had OVO as a first thrombotic event, 5 (42%) experienced VTE other than DVT or PE, and 6 (50%) had immediate family members with VTE. In one patient with both FVL and PTG, DVT occurred before BRVO. Of the 17 women with FVL and/or PTG mutations, 7 (41%) experienced ≥1 miscarriage, 6 (35%) were on estrogen therapy, and 1 (6%) was on clomiphene. Conclusion Of the 265 patients with OVO, 29 (11%) had FVL and/or PTG, and 83% of these 29 cases presented with OVO as their first thrombotic event. By diagnosing thrombophilia as an etiology for OVO, the ophthalmologist opens a window to family screening and preventive therapy. PMID:25897198

  20. Hemodynamic and metabolic effects of cerebral revascularization.

    Science.gov (United States)

    Leblanc, R; Tyler, J L; Mohr, G; Meyer, E; Diksic, M; Yamamoto, L; Taylor, L; Gauthier, S; Hakim, A

    1987-04-01

    Pre- and postoperative positron emission tomography (PET) was performed in six patients undergoing extracranial to intracranial bypass procedures for the treatment of symptomatic extracranial carotid occlusion. The six patients were all men, aged 52 to 68 years. Their symptoms included transient ischemic attacks (five cases), amaurosis fugax (two cases), and completed stroke with good recovery (one case). Positron emission tomography was performed within 4 weeks prior to surgery and between 3 to 6 months postoperatively, using oxygen-15-labeled CO, O2, and CO2 and fluorine-18-labeled fluorodeoxyglucose. Cerebral blood flow (CBF), cerebral blood volume (CBV), cerebral metabolic rates for oxygen and glucose (CMRO2 and CMRGlu), and the oxygen extraction fraction (OEF) were measured in both hemispheres. Preoperatively, compared to five elderly control subjects, patients had increased CBV, a decreased CBF/CBV ratio, and decreased CMRO2, indicating reduced cerebral perfusion pressure and depressed oxygen metabolism. The CBF was decreased in only one patient who had bilateral carotid occlusions; the OEF, CMRGlu, and CMRO2/CMRGlu and CMRGlu/CBF ratios were not significantly different from control measurements. All bypasses were patent and all patients were asymptomatic following surgery. Postoperative PET revealed decreased CBV and an increased CBF/CBV ratio, indicating improved hemodynamic function and oxygen hypometabolism. This was associated with increased CMRO2 in two patients in whom the postoperative OEF was also increased. The CMRGlu and CMRGlu/CBF ratio were increased in five patients. Changes in CBF and the CMRO2/CMRGlu ratio were variable. One patient with preoperative progressive mental deterioration, documented by serial neuropsychological testing and decreasing CBF and CMRO2, had improved postoperative CBF and CMRO2 concomitant with improved neuropsychological functioning. It is concluded that symptomatic carotid occlusion is associated with altered

  1. Carotid ultrasonographic and brain computerized tomographic findings in patients with vascular ocular syndromes

    International Nuclear Information System (INIS)

    To clarify the characteristics of cerebrovascular lesions in subtypes of vascular ocular syndrome, including amaurosis fugax (AF), retinal artery occlusion (RAO), and retinal vein occlusion (RVO), 93 patients with vascular ocular syndrome were studied by means of carotid ultrasonography (US) and brain computerized tomography (CT). The subjects comprised 21 patients with AF, 37 with RAO, and 35 with RVO who were sequentially given these diagnoses by the department of ophthalmology. On the basis of US findings, carotid lesions were defined as the presence of plaque or stenotic changes. CT findings were assessed for the presence and distribution of low-density areas (LDAs). Mean age was similar in each group, ranging from 64.5 to 67.4 years. The RAO group had high rates of men, hypertension, and smokers. US showed that the prevalence of carotid lesions ipsilateral to the affected eye was high in the RAO group and that severe stenosis and ulcerated plaque were present in 28.6% of the AF group and 45.9% of the RAO group. On CT examination, cerebral infarctions appeared as LDAs in about 10% of the patients in each group, and the incidence and distribution of LDAs were similar. Of 13 patients with cerebral infarction, only 2 were presumably due to carotid lesions; the others had a variety of causes. The discrepancy between US and CT findings was attributed to the small number of patients with cerebral infarction, since most patients had visual defects as an initial symptom. Our results suggest that extracranial carotid lesions, considered to be a major risk factor for stroke, should be carefully assessed in patients with AF or RAO to prevent further stroke. (author)

  2. Dissektion der Arteria carotis als Ursache ischämischer zerebrovaskulärer Ereignisse - Fallberichte und Diskussion

    Directory of Open Access Journals (Sweden)

    Tentschert S

    2003-01-01

    Full Text Available Dissektionen der kraniozervikalen Gefäße, inbesondere der Arteria carotis, zählen zu den häufigsten Ursachen ischämischer zerebrovaskulärer Ereignisse bei jüngeren Patienten. Die ischämische Symptomatik wird durch eine Wühlblutung in die Gefäßwand verursacht, welche entweder zu einer Minderung des zerebralen Blutflusses und/oder zu einer lokalen Thrombosierung mit nachfolgender Embolisation führt. Karotisdissektionen können durch ein mechanisches Trauma hervorgerufen werden, sie entstehen aber auch spontan oder sind dann bei einem Teil der Patienten mit Bindegewebserkrankungen assoziiert. Zu den häufigsten Symptomen zählen Kopfschmerzen, zervikaler Schmerz und Horner-Syndrom. Die zerebrale Ischämie führt meist zu einer transienten ischämischen Attacke (TIA oder zu einem ischämischen Infarkt im Stromgebiet der Arteria cerebri media der betroffenen Seite. Auch eine Amaurosis fugax kann auftreten. Trotz neuer technischer Möglichkeiten stellen Dissektionen der hirnversorgenden Gefäße nach wie vor eine diagnostische Herausforderung dar. Die digitale Subtraktionsangiographie gilt derzeit noch als Goldstandard zur Diagnostik, wird aber in vielen Fällen zunehmend durch neue nichtinvasive bildgebende Verfahren ersetzt oder ergänzt. Stenose oder Verschluß des betroffenen Gefäßes bilden sich in den meisten Fällen innerhalb von zwei Monaten nach dem Ereignis zurück. Therapeutische Maßnahmen haben vor allem die Verhinderung embolischer Komplikationen zum Ziel. Die gegenständliche Arbeit soll anhand von Fallbeispielen und einer Literaturübersicht klinisch relevante Aspekte und Probleme bei Diagnostik und Therapie der Dissektion der Arteria carotis aufzeigen.

  3. Preoperative White Matter Lesions Are Independent Predictors of Long-Term Survival after Internal Carotid Endarterectomy

    Directory of Open Access Journals (Sweden)

    Niku Oksala

    2014-06-01

    Full Text Available Background: Cerebral white matter lesions (WMLs predict long-term survival of conservatively treated acute stroke patients with etiology other than carotid stenosis. In carotid endarterectomy patients, WMLs are associated with severe carotid stenosis and unstable plaques, with the risk of perioperative complications and with increased 30-day perioperative risk of death. However, no data exist on their effect on postoperative long-term survival, a factor important when considering the net benefit from carotid endarterectomy. Whether this effect is independent of classical risk factors and indications for surgery is not known either. We hypothesized that WMLs could be evaluated from preoperative routine computed tomography (CT scans and are predictors of postoperative survival, independent of classical cardiovascular risk factors, indication category and degree of carotid stenosis. Methods: A total of 353 of 481 (73.4% consecutive patients subjected to carotid endarterectomy due to different indications, i.e. asymptomatic stenosis (n = 28, 7.9%, amaurosis fugax (n = 52, 14.7%, transient ischemic attack (n = 135, 38.2% or ischemic stroke (n = 138, 39.1%, from prospective vascular registries during the years 2001-2010 with digital preoperative CT scans, were included in the study. WMLs were rated by a radiologist (Wahlund criteria in a blinded fashion. Internal carotid artery (ICA stenoses were angiographically graded (Results: WML severity could be assessed with a substantial intraobserver agreement (Spearman's rho 0.843, p Conclusions: WMLs in a preoperative CT scan provide a substantially reliable estimate of postoperative long-term survival of carotid endarterectomy patients independent of currently used criteria, i.e. cardiovascular risk factors, indication category and degree of ipsilateral ICA stenosis.

  4. Transient isolated brainstem symptoms preceding posterior circulation stroke: a population-based study

    Science.gov (United States)

    Paul, Nicola LM; Simoni, Michela; Rothwell, Peter M

    2013-01-01

    Summary Background Transient isolated brainstem symptoms (eg, isolated vertigo, dysarthria, diplopia) are not consistently classified as transient ischaemic attacks (TIAs) and data for prognosis are limited. If some of these transient neurological attacks (TNAs) are due to vertebrobasilar ischaemia, then they should be common during the days and weeks preceding posterior circulation strokes. We aimed to assess the frequency of TNAs before vertebrobasilar ischaemic stroke. Methods We studied all potential ischaemic events during the 90 days preceding an ischaemic stroke in patients ascertained within a prospective, population-based incidence study in Oxfordshire, UK (Oxford Vascular Study; 2002–2010) and compared rates of TNA preceding vertebrobasilar stroke versus carotid stroke. We classified the brainstem symptoms isolated vertigo, vertigo with non-focal symptoms, isolated double vision, transient generalised weakness, and binocular visual disturbance as TNAs in the vertebrobasilar territory; atypical amaurosis fugax and limb-shaking as TNAs in the carotid territory; and isolated slurred speech, migraine variants, transient confusion, and hemisensory tingling symptoms as TNAs in uncertain territory. Findings Of the 1141 patients with ischaemic stroke, vascular territory was categorisable in 1034 (91%) cases, with 275 vertebrobasilar strokes and 759 carotid strokes. Isolated brainstem TNAs were more frequent before a vertebrobasilar stroke (45 of 275 events) than before a carotid stroke (10 of 759; OR 14·7, 95% CI 7·3–29·5, p<0·0001), particularly during the preceding 2 days (22 of 252 before a vertebrobasilar stroke vs two of 751 before a carotid stroke, OR 35·8, 8·4–153·5, p<0·0001). Of all 59 TNAs preceding (median 4 days, IQR 1–30) vertebrobasilar stroke, only five (8%) fulfilled the National Institute of Neurological Disorders and Stroke (NINDS) criteria for TIA. The other 54 cases were isolated vertigo (n=23), non-NINDS binocular visual

  5. Manifestaciones oftalmológicas de la enfermedad cerebrovascular Ophthalmological manifestations of cerebrovascular disease

    Directory of Open Access Journals (Sweden)

    J. Gállego

    2008-01-01

    Full Text Available El ojo constituye una diana para la enfermedad vascular. El estudio de la microcirculación retiniana constituye una oportunidad muy interesante para la valoración del riesgo vascular al conocer la relación existente entre los cambios vasculares en la retina y el riesgo de padecer un ictus. Es además una ventana excepcional para conocer mejor la fisiopatología de la microcirculación. La arteria oftálmica es la primera rama de la arteria carótida interna. La afectación ocular puede ser uni o bilateral. Los síntomas oculares o neuro-oftalmológicos son transitorios o persistentes y sus manifestaciones son muy heterogéneas abarcando alteraciones de la agudeza visual, trastornos de los campos visuales, síndromes oculomotores y manifestaciones clínicas corticales y subcorticales complejas. Su conocimiento puede resultar clave para instaurar las medidas preventivas pertinentes o establecer el correcto diagnóstico y la aproximación diagnóstica inmediata, tan importante en la atención de los procesos vasculares cerebrales.Transient or persistent loss of vision in one eye is a common and distinctive manifestation of occlusive vascular disease. Occasionally, both eyes are involved together or sequentially, with temporary or even permanent blindness. The internal carotid arteries supply blood to the organ of vision; therefore pathologies of those arteries caused by arteriosclerosis may have a direct influence on its functioning. The most common syndromes are temporary (amaurosis fugax or constant reduction of visual acuity. In fundus examination central retinal artery occlusion and branch retinal artery occlusion are the most common diagnosis, while retinal vein occlusion, anterior ischemic optic neuropathy, ocular ischemic syndrome are less common. There are many clinical ophtlamological manifestations due to vascular brain damage. Proper recognition and diagnosis of the disease may protect the patient against serious life

  6. Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

    Directory of Open Access Journals (Sweden)

    Schockman S

    2015-04-01

    Full Text Available Samantha Schockman,1 Charles J Glueck,2,3 Robert K Hutchins,4,5 Jaykumar Patel,2 Parth Shah,2 Ping Wang2 1Internal Medicine Residency Program, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA; 2Cholesterol, Metabolism, and Thrombosis Center, The Jewish Hospital-Mercy Health, Cincinnati, Ohio, USA; 3Mercy Health Physicians, Mercy Health, Cincinnati, Ohio, USA; 4Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA; 5Cincinnati Eye Institute, Cincinnati, Ohio, USA Aim: This study aimed to assess the diagnostic ramifications of vascular occlusion of the ocular vein and artery as a first thrombotic event associated with factor V Leiden (FVL and/or prothrombin gene (PTG heterozygosity. Methods: Patients with ocular vein (n=191 and artery (n=74 occlusion, free of cardioembolic etiologies, were sequentially referred from vitreoretinal specialists for measurement of thrombophilia-hypofibrinolysis and compared to 110 healthy normal controls. Results: Of the 265 patients, 29 (11%; 17 women, 12 men of all referred ocular vascular occlusion (OVO cases were found to be heterozygous for FVL and/or PTG, including 16 with FVL, 12 with PTG, and 1 with both. Of the 29 cases, 16 had central retinal vein occlusion (CRVO, 2 branch retinal vein occlusion (BRVO, 5 nonarteritic anterior ischemic optic neuropathy (NA-AION, 3 retinal artery occlusion (RAO, 2 amaurosis fugax (AF, and 1 had both CRVO and RAO. Of the 16 FVL cases, 15 (94% had OVO as a first thrombotic event without prior deep venous thrombosis (DVT or pulmonary embolism (PE; 6 (38% also had other thrombotic events, including recurrent miscarriage, osteonecrosis, ischemic stroke, and/or ischemic colitis; and 5 (31% had immediate family members with previous venous thromboembolism (VTE. Of the 12 PTG cases, 9 (75% had OVO as a first thrombotic event, 5 (42% experienced VTE other than DVT or PE, and 6 (50% had immediate family members with VTE. In one patient

  7. MRI plaque imaging detects carotid plaques with a high risk for future cerebrovascular events in asymptomatic patients.

    Directory of Open Access Journals (Sweden)

    Lorena Esposito-Bauer

    Full Text Available PURPOSE: The aim of this study was to investigate prospectively whether MRI plaque imaging can identify patients with asymptomatic carotid artery stenosis who have an increased risk for future cerebral events. MRI plaque imaging allows categorization of carotid stenosis into different lesion types (I-VIII. Within these lesion types, lesion types IV-V and VI are regarded as rupture-prone plaques, whereas the other lesion types represent stable ones. METHODS: Eighty-three consecutive patients (45 male (54.2%; age 54-88 years (mean 73.2 years presenting with an asymptomatic carotid stenosis of 50-99% according to ECST-criteria were recruited. Patients were imaged with a 1.5-T scanner. T1-, T2-, time-of-flight-, and proton-density weighted studies were performed. The carotid plaques were classified as lesion type I-VIII. Clinical endpoints were ischemic stroke, TIA or amaurosis fugax. Survival analysis and log rank test were used to ascertain statistical significance. RESULTS: Six out of 83 patients (7.2% were excluded: 4 patients had insufficient MR image quality; 1 patient was lost-to-follow-up; 1 patient died shortly after the baseline MRI plaque imaging. The following results were obtained by analyzing the remaining 77 patients. The mean time of follow-up was 41.1 months. During follow-up, n = 9 (11.7% ipsilateral ischemic cerebrovascular events occurred. Only patients presenting with the high-risk lesion types IV-V and VI developed an ipsilateral cerebrovascular event versus none of the patients presenting with the stable lesion types III, VII, and VIII (n = 9 (11.7% vs. n = 0 (0% during follow-up. Event-free survival was higher among patients with the MRI-defined stable lesion types (III, VII, and VIII than in patients with the high-risk lesion types (IV-V and VI (log rank test P<0.0001. CONCLUSIONS: MRI plaque imaging has the potential to identify patients with asymptomatic carotid stenosis who are particularly at risk of

  8. Non-traumatic neurological emergencies: imaging of cerebral ischemia

    International Nuclear Information System (INIS)

    Cardiovascular disease is the leading cause of death worldwide with almost one-third of all cardiovascular deaths ascribed to stroke. Imaging modalities, such as CT, MRI, positron emission tomography (PET), and single photon emission CT (SPECT) provide tremendous insight into the pathophysiology of acute stroke. Computed tomography is considered the most important initial diagnostic study in patients with acute stroke, because underlying structural lesions, such as tumor, vascular malformation, or subdural hematoma, can mimic stroke clinically. Diffusion-weighted imaging (DWI) has the ability to visualize changes in diffusion within minutes after the onset of ischemia and has become a powerful tool in the evaluation of patients with stroke syndrome. Territories with diffusion and perfusion mismatch may define tissues at risk, but with potential recovery. An alternative strategy with CT technology uses rapid CT for dynamic perfusion imaging, with similar goals in mind. Angiography can be performed in the hyperacute stage if thrombolytic therapy is being considered. Indications for diagnostic angiography include transient ischemic attacks in a carotid distribution, amaurosis fugax, prior stroke in a carotid distribution, a high-grade stenotic lesion in a carotid artery, acquiring an angiographic correlation of magnetic resonance angiography (MRA) or computed tomographic angiography (CTA) concerning stenotic findings. In 50% of all angiograms performed in the hyperacute stage, occlusion of a vessel is observed; however, the need for angiography has been made less necessary due to the improvements of MRA, duplex ultrasound, and CTA. Numerous etiologies can lead to infarction. In children, pediatric stroke is very uncommon. The most common cause is an embolus from congenital heart disease with right-to-left shunts. Also a dissection of large extracranial vessels may result in cerebral infarction, and although the brain is equipped with numerous venous drainage routes

  9. Carotid angioplasty with cerebral protection

    International Nuclear Information System (INIS)

    Background. Carotid endarterectomy (CEA) is widely used in the management of high-grade carotid stenosis. It is a surgical procedure requiring general anaesthesia and is suitable only for lesions located at or close to the carotid bifurcation. It may develop complications, such as stroke, death, cranial nerve palsies, wound haematoma and cardiac complications. The risk of complications is increased in patients with recurrent carotid artery stenosis following CEA, in subjects undergoing radiotherapy to the neck, and in patients with cardiopulmonary disease. The drawbacks of CEA have led physicians to search for alternative treatment options. Carotid angioplasty and stenting (CAS) is less invasive than CEA. The method is particularly suitable for the treatment of recurrent stenosis after previous CEA and distal internal artery stenosis, which is inaccessible for CEA. CAS does not cause cranial nerve palsies. Moreover, it does not require general anaesthesia and causes lower morbidity and mortality in patients with severe cardiopulmonary disease. The complications of CAS include stroke due to distal immobilisation of a plaque or thrombus dislodged during the procedure, abrupt vessel occlusion due to thrombosis, dissection or vasospasm, and restenosis due to intimal hyperplasia. CAS is a relatively new procedure; therefore, it is essential to establish its efficacy and safety before it is introduced widely into clinical practice. Patients and methods. In Slovenia, we have also started with carotid angioplasty by the study: Slovenian Carotid Angioplasty Study (SCAS). We performed CAS in 17 patients (12 males and 5 females) aged from 69 to 82 years. All patients were symptomatic with stenosis greater than 70 %. 10 patients suffered transient ischemic attacks, 4 patients minor strokes and 3 patients amaurosis fugax. Results. Technical success (< 30 % residual stenosis) was achieved in all cases. In 14 patients, no residual stenosis was found, in 2 patients a 15 % residual

  10. Investigation of the initial symptom, onset time and predisposing factors of acute cerebral haemorrhage%急性出血性脑血管疾病相关因素分析

    Institute of Scientific and Technical Information of China (English)

    曹非; 骆芳; 胡波; 魏桂荣; 许辉; 菜敬杰

    2008-01-01

    Objective To investigate the initial symptoms, onset time and predisposing factors of acute cerebral haemorrhage in order to more effectively prevent cerebral haemorrhage. Methods 728 cases with acute cerebral haemorrhage were collected in recent 8 years. The initial symptoms,onset time and predisposing factors of all the patients were investigated. Results Acute cerebral haemorrhage in 582 caces (79.9%) occurred at time between 6am and 18pm and 146 cases (20%) at night. The main predisposing causes of acute cerebral haemorrhage were the playing of chess, cards and mahjong (16.1%), quarrels (12.8%), overwork (11.7%), alcoholism (7.2%) and so on. The most common initial symptom was hemianesthesia, accounting for 16.2%, others were vertigo (13.0%), headache ( 11.4%), amaurosis fugax ( 9.3%), speech ambiguity ( 8.6%) and transitory visual disturbance (7.9%). Conclusions The preventive measures of cerebral haemorrhage should be focused on daytime, especially in the morning. Sixteen locations where the cerebral haemorrhage is prone to happen should be paid more attention to by the patients with hypertension and the medical staff. Thirteen symptoms,such as hemianesthesia and vertigo,are the aurae of cerebral haemorrhage.%目的 调查急性脑出血患者首发症状、发病时间和诱因,旨在更有效预防脑出血发病.方法 搜集调查近8年728例脑出血患者临床资料,分析其首发症状、发病时问和诱因. 结果 6:00~18:00发病582例占79.9%.18:00~6:00发病146例,占20.0%.脑出血发病第1位诱因是麻将棋牌,达117例,占16.1%,其次分别为争吵93例(12.8%),过劳85例(11.7%),酗酒53例(7.2%)等.首发症状最多见的足偏身麻木,118例,占16.2%;其次为突发眩晕,其他排列顺序依次为:头痛、一过性黑朦、言语含糊、短暂性视力障碍. 结论 脑出血发病预防重点应放在白天,尤其是上午;16种脑出血好发诱因应引起高血压患者和医务人员的重视,偏身麻木、眩晕等13

  11. 容易误诊漏诊的硬脑膜动静脉瘘9例分析%Dural arteriovenous fistula with easily inaccurate or missed diagnosis: analysis of 9 cases

    Institute of Scientific and Technical Information of China (English)

    廖焕权; 王鸿轩; 陈红兵; 杨智云; 王莹; 贺涓涓; 尚文锦; 洪华

    2011-01-01

    目的 提高对容易误诊漏诊的硬脑膜动静脉瘘(dural arteriovenous fistula,DAVF)的诊断水平.方法 回顾性总结9例DAVF的临床资料,结合文献进行分析.结果 9例主要临床表现及误诊情况分别为:视朦或视力下降4例,无颅内高压症状,误诊为视神经炎、颅内结核感染或特发性颅内压增高;记忆力下降1例,误诊为病毒性脑炎;双下肢无力1例,误诊为急性脊髓炎、神经鞘瘤;反复头痛1例,误诊为偏头痛、特发性颅内压增高;反复抽搐1例,误诊为正常颅内压脑积水;饮水呛咳、吞咽困难1例,误诊为脑梗死.3例满足于静脉窦血栓的诊断而忽略了DAVF.所有病例影像学均漏诊,但如仔细观察仍可发现细微的血管形态改变,提示动静脉畸形.结论 DAVF临床表现缺乏特异性,加上临床及放射科医师对本病认识不足,诊断思路狭窄,造成本病误诊、漏诊率高.%Objective To improve the diagnostic capability of dural arteriovenous fistula(DAVF) which easily leads to inaccurate or missed diagnosis.Methods The clinical information of 9 cases of DAVF was summarized retrospectively, and analyzed with a literature review.Results The main clinical manifestations and misdiagnosis of 9 cases were: 4 cases presenting with only amaurosis fugax or vision loss without symptoms of increased intracranial pressure were misdiagnosed as optic neuritis,intracranial tuberculosis infection and idiopathic intracranial hypertension;1 case presenting with memory decline was misdiagnosed as viral encephalitis;1 case presenting with bilateral lower limbs weakness was misdiagnosed as acute myelitis and neurilemmoma; 1 case presenting with recurrent headache was misdiagnosed as migraine and idiopathic intracranial hypertension;1 case presenting with repeating seizures was misdiagnosed as normal intracranial pressure hydrocephalus;1 case presenting with choking water and swallowing difficulty was misdiagnosed as cerebral infarction.3

  12. NEI You Tube Videos: Amblyopia

    Medline Plus

    Full Text Available ... Funding Division of Extramural Activities Division of Extramural Science Programs Funding Opportunity Announcements Funding Mechanisms Supported by ... Amaurosis Low Vision Refractive Errors Retinopathy of Prematurity Science Spanish Videos Webinars NEI YouTube Videos: Amblyopia NEI ...

  13. Glaucoma

    Medline Plus

    Full Text Available ... Funding Division of Extramural Activities Division of Extramural Science Programs Funding Opportunity Announcements Funding Mechanisms Supported by ... Amaurosis Low Vision Refractive Errors Retinopathy of Prematurity Science Spanish Videos Webinars NEI YouTube Videos: Glaucoma NEI ...

  14. Mutation Discovered in a Feline Model of Human Congenital Retinal Blinding Disease

    OpenAIRE

    Menotti-Raymond, Marilyn; Deckman, Koren Holland; David, Victor; Myrkalo, Jaimie; O'Brien, Stephen J.; Narfström, Kristina

    2010-01-01

    The authors report on the genetic characterization of a deletion in the feline CRX gene in the Rdy cat, defining a new large-animal model for Leber congenital amaurosis, retinitis pigmentosa, and cone–rod dystrophy.

  15. NEI You Tube Videos: Amblyopia

    Medline Plus

    Full Text Available ... Eye Disease Dilated Eye Exam Dry Eye For Kids Glaucoma Healthy Vision Tips Leber Congenital Amaurosis Low Vision Refractive Errors Retinopathy of Prematurity Science Spanish Videos Webinars NEI YouTube Videos: Amblyopia NEI ...

  16. Glaucoma

    Medline Plus

    Full Text Available ... Eye Disease Dilated Eye Exam Dry Eye For Kids Glaucoma Healthy Vision Tips Leber Congenital Amaurosis Low Vision Refractive Errors Retinopathy of Prematurity Science Spanish Videos Webinars NEI YouTube Videos: Glaucoma NEI ...

  17. Glaucoma

    Medline Plus

    Full Text Available ... Funding Division of Extramural Affairs Division of Extramural Science Programs Funding Opportunity Announcements Funding Mechanisms Supported by ... Amaurosis Low Vision Refractive Errors Retinopathy of Prematurity Science Spanish Videos Webinars NEI YouTube Videos: Glaucoma NEI ...

  18. NEI You Tube Videos: Amblyopia

    Medline Plus

    Full Text Available ... Funding Division of Extramural Affairs Division of Extramural Science Programs Funding Opportunity Announcements Funding Mechanisms Supported by ... Amaurosis Low Vision Refractive Errors Retinopathy of Prematurity Science Spanish Videos Webinars NEI YouTube Videos: Amblyopia NEI ...

  19. A synopsis of the Malesian species of Kibara (Monimiaceae)

    NARCIS (Netherlands)

    Philipson, W.R.

    1985-01-01

    Thirty-nine species are recognized of which twenty-four are described as new ( K. bullata, K. carrii, K. chimbuensis, K. ferox, K. flagelliformis, K. fragrans, K. fugax, K. hartleyi, K. karengana, K. katikii, K. kostermansii, K. latifolia, K. leachii, K. macrantha, K. nitens, K. novobritanica, K. ob

  20. Pain Management in Functional Gastrointestinal Disorders

    OpenAIRE

    Vigano, Antonio; Bruera, Eduardo

    1995-01-01

    Pain is a common feature in functional gastrointestinal disorders (FGID). An abnormally low visceral sensory threshold, as well as a number of central, spinal and peripheral pain-modulating abnormalities, have been proposed for this syndrome. Clinical aspects of pain associated with irritable esophagus, functional dyspepsia, biliary dysmotility, inflammatory bowel syndrome and proctalgia fugax are reviewed. Because of its unclear pathophysiology, pain expression is the main target for the suc...

  1. A synopsis of the Malesian species of Kibara (Monimiaceae)

    OpenAIRE

    Philipson, W.R.

    1985-01-01

    Thirty-nine species are recognized of which twenty-four are described as new ( K. bullata, K. carrii, K. chimbuensis, K. ferox, K. flagelliformis, K. fragrans, K. fugax, K. hartleyi, K. karengana, K. katikii, K. kostermansii, K. latifolia, K. leachii, K. macrantha, K. nitens, K. novobritanica, K. oblongata, K. rosselensis, K. royenii, K. shungolensis, K. sleumeri, K. streimannii, K. sudestensis, and K. versteeghii) ). One new combination is made: K. oligocarpella (Kaneh. & Hatus.) Philipson, ...

  2. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

    NARCIS (Netherlands)

    Perrault, I.; Estrada-Cuzcano, A.; Lopez, I.; Kohl, S.; Li, S.; Testa, F.; Zekveld-Vroon, R.; Wang, X.; Pomares, E.; Andorf, J.; Aboussair, N.; Banfi, S.; Delphin, N.; Hollander, A.I. den; Edelson, C.; Florijn, R.; Jean-Pierre, M.; Leowski, C.; Megarbane, A.; Villanueva, C.; Flores, B.; Munnich, A.; Ren, H.; Zobor, D.; Bergen, A.; Chen, R.; Cremers, F.P.M.; Gonzalez-Duarte, R.; Koenekoop, R.K.; Simonelli, F.; Stone, E.; Wissinger, B.; Zhang, Q.; Kaplan, J.; Rozet, J.M.

    2013-01-01

    Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosis will require a specific care of patients. Ninete

  3. A Novel Nonsense Mutation in CEP290 Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

    NARCIS (Netherlands)

    Littink, Karin W.; Pott, Jan-Willem R.; Collin, Rob W. J.; Kroes, Hester Y.; Verheij, Joke B. G. M.; Blokland, Ellen A. W.; Miro, Marta de Castro; Hoyng, Carel B.; Klaver, Caroline C. W.; Koenekoop, Robert K.; Rohrschneider, Klaus; Cremers, Frans P. M.; van den Born, L. Ingeborgh; den Hollander, Anneke I.

    2010-01-01

    PURPOSE. To identify the genetic defect in a family with variable retinal phenotypes. The proband had a diagnosis of Leber congenital amaurosis (LCA), whereas her two cousins had an early-onset severe retinal dystrophy (EOSRD) with useful vision. A distant family member had retinitis pigmentosa (RP)

  4. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip

    NARCIS (Netherlands)

    Booij, Judith C.; Bakker, Arne 1; Kulumbetova, Jamilia; Moutaoukil, Youssef; Smeets, Bert; Verheij, Joke; Kroes, Hester Y.; Klaver, Caroline C. W.; van Schooneveld, Mary; Bergen, Arthur A. B.; Florijn, Ralph J.

    2011-01-01

    Purpose: To develop a high-throughput, cost-effective diagnostic strategy for the identification of known and new mutations in 90 retinal disease genes. Design: Evidence-based study. Participants: Sixty patients with a variety of retinal disorders, including Leber's congenital amaurosis, ocular albi

  5. NEI You Tube Videos: Amblyopia

    Medline Plus

    Full Text Available ... Macular Degeneration Amblyopia Animations Blindness Cataract Convergence Insufficiency Diabetic Eye Disease Dilated Eye Exam Dry Eye For Kids Glaucoma Healthy Vision Tips Leber Congenital Amaurosis Low Vision Refractive Errors Retinopathy of Prematurity Science Spanish Videos Webinars NEI YouTube ...

  6. Leucosiid crabs (Crustacea: Decapoda: Brachyura) from Taiwan, with three new records.

    Science.gov (United States)

    Shih, Yi-Jia; Ho, Ping-Ho; Chan, Tin-Yam

    2015-12-01

    Four leucosiid species from Taiwan are presented. Ebalia nudipes Sakai, 1963, with its male first gonopod figured for the first time. Galilia petricola Komai & Tsuchida, 2014, is recorded on the basis of a larger specimen, and distinguishing features with its only congener, G. narusei Ng & Richer de Forges, 2007, reappraised. Nursia rhomboidalis (Miers, 1879), previously known only from Japan, Korea, and mainland China, is also recorded from Taiwan. Myra fugax (Fabricius, 1798) is now formally recorded from Taiwan, and female characters identified to help separate the three known Taiwanese species of Myra.

  7. Comparison of selected species of Bipolaris, Drechslera and Exserohilum by random amplification of polymorphic DNA.

    Science.gov (United States)

    Bakonyi, J; Pomázi, A; Fischl, G; Hornok, L

    1995-01-01

    Forty-six strains representing 15 species of Drechslera, five of Bipolaris and four of Exserohilum, as well as two formae of Drechslera teres were compared by RAPD analysis. Drechslera formed a large, heterologous group, while species of Bipolaris and Exserohilum were more closely related. Strong pair-wise affinities were observed between D. graminea and D. teres, D. tritici-repentis and D. bromi, D. siccans and D. biseptata, D. fugax and D. poae, B. sorghicola and B. zeicola, as well as between E. rostratum and E. turcicum.

  8. Linear headache: a recurrent unilateral head pain circumscribed in a line-shaped area

    OpenAIRE

    Wang, Yu; Tian, Miao-Miao; Wang, Xian-Hong; Zhu, Xiao-Qun; Liu, Ying; Lu, Ya-Nan; Pan, Qing-Qing

    2014-01-01

    Background A headache circumscribed in a line-shaped area but not confined to the territory of one particular nerve had ever been described in Epicrania Fugax (EF) of which the head pain is moving and ultrashort. In a 25-month period from Feb 2012 to Mar 2014, we encountered 12 patients with a paroxysmal motionless head pain restricted in a linear trajectory. The head pain trajectory was similar to that of EF, but its all other features obviously different from those of EF. We named this dist...

  9. Inherited Retinal Degenerative Disease Registry

    Science.gov (United States)

    2016-03-21

    Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

  10. Novel mutations in two Saudi patients with congenital retinal dystrophy

    OpenAIRE

    Leen Abu Safieh; Humoud M Al-Otaibi; Richard Alan Lewis; Igor Kozak

    2016-01-01

    To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and re...

  11. Complications associated with prone positioning in elective spinal surgery

    OpenAIRE

    DePasse, J. Mason; Mark A Palumbo; Haque, Maahir; Eberson, Craig P.; Alan H Daniels

    2015-01-01

    Complications associated with prone surgical positioning during elective spine surgery have the potential to cause serious patient morbidity. Although many of these complications remain uncommon, the range of possible morbidities is wide and includes multiple organ systems. Perioperative visual loss (POVL) is a well described, but uncommon complication that may occur due to ischemia to the optic nerve, retina, or cerebral cortex. Closed-angle glaucoma and amaurosis have been reported as addit...

  12. Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates

    OpenAIRE

    Daniel Boloc; Sergio Castillo-Lara; Gemma Marfany; Roser Gonzàlez-Duarte; Abril, Josep F

    2015-01-01

    BACKGROUND: Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known causative genes, some of them shared with other non-syndromic retinal dystrophies (e.g. Leber congenital amaurosis, LCA). The identification of RP genes has increased steadily during the last decade, and the 30% of the cases that still remain unassigned will soon decrease after the advent of exome/genome sequencing. A considerable amount of genetic and functional data on single RD g...

  13. Pathological, clinical and biochemical investigation of naturally occurring pregnancy toxemia of sheep

    OpenAIRE

    Kabakci N.; Yarim G.; Yarim M.; Duru O.; Yagci B.; Kisa U.

    2003-01-01

    A sick ewe in late pregnancy presented with clinical incoordination lipping, amaurosis, head tilt gait and nervous symptoms such as circling movements. A smell of ketones on the breath was detected. The sick animal died during clinical examination and, together with three more dead animals belonging to the same flock, was submitted to the laboratory for necropsy. The uteri of all pregnant animals contained late-term twin fetuses. The most prominent lesion was extensive fatty infiltration of t...

  14. Naturally Occurring Animal Models with Outer Retina Phenotypes

    OpenAIRE

    Baehr, Wolfgang; Frederick, Jeanne M.

    2009-01-01

    Naturally occurring and laboratory generated animal models serve as powerful tools with which to investigate the etiology of human retinal degenerations, especially retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone dystrophies (CD) and macular degeneration (MD). Much progress has been made in elucidating gene defects underlying disease, in understanding mechanisms leading to disease, and in designing molecules for translational research and gene-based therapy to interfere with...

  15. RE-EDUCATIVE METHOD IN THE PROCESS OF MINIMIZING OF AUTOAGRESIVE WAYS OF BEHAVIOR

    OpenAIRE

    Nenad GLUMBIC; Kosa NIKOLIC

    1999-01-01

    Autoagressive behavior is a relatively frequent symptom of mental disturbances and behavior disturbances which are the subject of professional engagement of clinically oriented defectologists. In the process of rehabilitation numerous methods are used, from behavioral to psychopharmacological ones by which the above mentioned problems are eliminated of softened.The paper deals with four children with different diagnosis (autism, disintegrative psychosis, Patau syndrome and amaurosis) that hav...

  16. To evaluate the composition and typing of carotid artery atherosclerotic plaque and the relationship between plaque morphology and clinical symptoms%MRI评估颈动脉粥样硬化斑块成分、类型及其与临床症状的相关性

    Institute of Scientific and Technical Information of China (English)

    罗南; 刘一; 范占明

    2013-01-01

    Objective To compare plaque morphology from patients with and without stroke symptoms, determine the relationship between carotid plaque morphology and stroke pathogenesis, and evaluate the warning function of high-field MR on early diagnosis of plaque. Methods Patients with carotid artery atherosclerotic plaque detected by B-mode ultrasonography were examined with MR imaging. Imaging was performed with a 3.0-T MR imager (Philips or GE) and a special 8-channel phased-array surface coil for carotid artery. The protocols include T1-, intermediate-, T2-, and post-contrast T1-weighted MR imaging, as well as three-dimensional time-of-flight (TOF) and MP-RAGE. All examinations were performed with a 14cm field of view, a matrix of 256 × 256 pixels,a 2-mm section thickness, and two acquired signals. An intersection space of -1 mm was used for three-dimensional TOF angiography and MP-RAGE, whereas no intersection space was used for MR imaging. Gadopentetate Dimeglumine was the contrast agent with the dosage of 0.1 mmol/Kg(0.2 ml/Kg)and injection speed of 0.7 ml/s. One observer recorded quantitative and morphologic information, which included measurement of the area of the lumen and main plaque components (calcification, hemorrhage, loose matrix ); fibrous cap status (thick, thin, or ruptured); reformed MR lesion type (types Ⅰ-Ⅷ) based on American Heart Association (AHA). Plaques associated with neurologic symptoms(transient ischemic attack, amaurosis fugax, or stroke appropriate to the distribution of the index carotid artery)and asymptomatic plaques were compared with Independent-sample T test on luminal stenosis, chi square test on occurrence rate of main plaque components and fibrous cap rupture respectively and regression analysis for the connection strength between plaque components and clinical symptoms. Results 64 carotid artery enrolled in the symptomatic group and 131 carotid artery enrolled in the asymptomatic group. Compared with asymptomatic plaques

  17. La terapia génica marca un hito al proporcionar visión a adultos jóvenes casi ciegos

    OpenAIRE

    Shaberman, Ben A.

    2008-01-01

    Artículo original publicado en la página web de la Foundation Fighting Blindness (USA) el 28 Abr. 2008 (www.westernclassic.org). Traducido por José Martín Nieto. Tres jóvenes adultos prácticamente sin visión pueden ahora leer varias líneas de letras en un optotipo y ver mejor en condiciones de luz baja, gracias a una terapia génica innovadora dirigida a revertir la ceguera en una forma severa de retinosis pigmentaria, conocida como Amaurosis Congénita de Leber (LCA). Una de las tres person...

  18. Dicty_cDB: Contig-U16564-1 [Dicty_cDB

    Lifescience Database Archive (English)

    Full Text Available iparum reticulocyte... 39 1.2 CP000939_2369( CP000939 |pid:none) Clostridium botulinum B1 str. O... 38 1.6 (Q4R3Q7) Leber...cilin-like protein (Leber congenital amaurosis 5-l... 38 1.6 AB169356_1( AB169356 |pid:none) Ma...id:none) Homo sapiens chromosome 21 segment... 38 1.6 BC043006_1( BC043006 |pid:none) Homo sapiens Leber con...omosome ... 38 1.6 ( O95447 ) RecName: Full=Lebercilin-like protein; AltName: Full=Le... 38 1.6 AL844506_148

  19. Disease: H00837 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available re than a dozen genes. Several have been demonstrated as potentially efficacious gene therapy targets. Nervo... (LCA15) TULP1 [HSA:7287] (LCA16) KCNJ13 [HSA:3769] [KO:K05006] Gene therapy ICD-10: H35.5 MeSH: D057130 OMI...) PMID:21705775 Liu MM, Tuo J, Chan CC Republished review: Gene therapy for ocular diseases. Postgrad Med J ...87:487-95 (2011) PMID:20399883 Cideciyan AV Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res 29:398-427 (2010) ...

  20. The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway

    OpenAIRE

    Bett, John S.; Naheed Kanuga; Emma Richet; Gunter Schmidtke; Marcus Groettrup; Cheetham, Michael E.; Jacqueline van der Spuy

    2012-01-01

    Mutations in AIPL1 cause the inherited blindness Leber congenital amaurosis (LCA). AIPL1 has previously been shown to interact with NUB1, which facilitates the proteasomal degradation of proteins modified with the ubiquitin-like protein FAT10. Here we report that AIPL1 binds non-covalently to free FAT10 and FAT10ylated proteins and can form a ternary complex with FAT10 and NUB1. In addition, AIPL1 antagonised the NUB1-mediated degradation of the model FAT10 conjugate, FAT10-DHFR, and pathogen...

  1. Artery Agenesis: Ipsilateral Common Carotid Artery Hypoplasia

    Directory of Open Access Journals (Sweden)

    Omer Kaya

    2014-01-01

    Full Text Available A 42-year-old female patient, who had been diagnosed with an occlusion of her left internal carotid artery (ICA following Doppler ultrasonographic (US and digitally-subtracted angiographic (DSA examinations performed in an outer healthcare center in order to eliminate the underlying cause of her complaint of amorosis fugax, later applied to our hospital with the same complaint. At Doppler US performed in our hospital’s radiology department, her right common carotid artery (CCA was normal, but her left CCA was hypoplastic. The right internal artery (ICA was validated as normal. At the left side, however, the ICA was apparent only as a stump and it did not demonstrate a continuity. The diagnosis of ICA agenesis was confirmed by the utilization of Doppler US, CT, and DSA imaging, and it was concluded also that ipsilateral CCA hypoplasia could be evaluated as an important clue to the diagnosis of ICA agenesis.

  2. Chronic perineal pain: current pathophysiological aspects, diagnostic approaches and treatment.

    Science.gov (United States)

    Andromanakos, Nikolaos P; Kouraklis, Grigorios; Alkiviadis, Kostakis

    2011-01-01

    Chronic perineal pain is the anorectal and perineal pain without underlying organic disease, anorectal or endopelvic, which has been excluded by careful physical examination, radiological and endoscopic investigations. A variety of neuromuscular disorders of the pelvic floor lead to the different pathological conditions such as anorectal incontinence, urinary incontinence and constipation of obstructed defecation, sexual dysfunction and pain syndromes. The most common functional disorders of the pelvic floor muscles, accompanied by perineal pain are levator ani syndrome, proctalgia fugax, myofascial syndrome and coccygodynia. In the diagnosis of these syndromes, contributing to a thorough history, physical examination, selected specialized investigations and the exclusion of organic disease with proctalgia is carried out. Accurate diagnosis of the syndromes helps in choosing an appropriate treatment and in avoiding unnecessary and ineffective surgical procedures, which often are performed in an attempt to alleviate the patient's symptoms.

  3. Moraea intermedia and M. vuvuzela (Iridaceae-Iridoideae, two new species from western South Africa, and some nomenclatural changes and range extensions in the genus

    Directory of Open Access Journals (Sweden)

    P. Goldblatt

    2010-12-01

    Full Text Available We describe two new species in the largely sub-Saharan genus Moraea Mill. (± 205 spp. from its centre of diversity in the winter rainfall region of southern Africa. Moraea intermedia, from north-central Namaqualand near Springbok, is a member of the small section Tubiflorae (now eight species, remarkable in its growth habit with a long basal intemode. leaves clustered at the first aerial node, and Moraea-type stamens and style branches but subequal tepals with very short claws that clasp only the base of the filament column. Moraea vuvuzela. a member of series Galaxia of the Galaxia group of the genus (now 17 species, has deeply fringed stigma lobes, filaments free in the upper 1 mm, ± prostrate, lanceolate leaves and. remarkable for the series, dark brown to purple markings near the base of the tepal limbs. In the unusually variable M.fugax, currently with two subspecies, new collections of subsp. fugax co-occurring but on different soils with subsp.  filicaulis, cast doubt on their current treatment as members of the same species. We now favour recognition of the diminutive subsp.filicaulis as a separate species, M. filicaulis. In the M iripetala group we recommend recognition of the early blooming M. punctata, described in 1892 and later subsumed in M. iripetala but readily distinguished by the long inner  tepals broader in the midline and short, relatively broad, plane rather than channelled leaves. We also report small but significant range extensions for M. barkerae, M. macrocarpa and M. tricolor.

  4. Reversão de amaurose por neuropatia óptica em orbitopatia de Graves após descompressão orbitária: relato de caso Reversal of blindness due to Graves' optic neuropathy after orbital decompression: case report

    Directory of Open Access Journals (Sweden)

    Valmor Rios Leme

    2003-12-01

    Full Text Available OBJETIVO: Descrever o caso de uma paciente portadora de orbitopatia de Graves com baixa visual no olho esquerdo há 9 meses e amaurose no direito há 20 dias secundária à neuropatia óptica. MÉTODOS: Foi realizada descompressão orbitária bilateral ínfero-medial por via transconjuntival. RESULTADOS: Após a cirurgia a paciente evoluiu lentamente com melhora progressiva da acuidade visual, obtendo 20/20 em ambos os olhos ao cabo de 10 meses. CONCLUSÕES: A descompressão orbitária é eficaz em restabelecer a visão em casos de amaurose por neuropatia óptica da orbitopatia de Graves com até 20 dias de instalação.PURPOSE: To describe a patient with Graves' orbitopathy who presented with loss of vision of the left eye for 9 months and amaurosis of the right eye for 20 days. METHODS: Bilateral inferomedial transnconjunctival orbital decompression was performed. RESULTS: After orbital decompression, vision slowly improved and ten months after the surgery the vision was normal in both eyes. CONCLUSIONS: Orbital decompression can reestablish optic nerve function at least 20 days after amaurosis.

  5. 防除多花黑麦草等4种禾本科杂草的药剂活性测定%Biological activities of eight herbicides against four grass weeds of wheat fields

    Institute of Scientific and Technical Information of China (English)

    高兴祥; 李美; 房锋; 张悦丽; 齐军山

    2014-01-01

    为了系统研究多花黑麦草、早熟禾、碱茅和棒头草等4种小麦田禾本科杂草的防除药剂活性,在温室内采用盆栽法研究了8种除草剂对小麦田多花黑麦草等4种禾本科杂草的生物活性。结果表明,乙酰乳酸合成酶(ALS)抑制剂啶磺草胺对早熟禾有很好的防除效果,田间推荐剂量下防效达到93.06%(防效均为田间推荐剂量下,下同),对碱茅、多花黑麦草和棒头草的效果也较好,防效在82.82%~86.89%之间,另2种 ALS 抑制剂氟唑磺隆和甲基二磺隆对早熟禾的防效较好,在61.27%~86.71%之间,但对其他3种杂草碱茅、棒头草和多花黑麦草的防效很差,防效仅在10.47%~29.43%之间。乙酰辅酶 A 羧化酶(ACCase)抑制剂唑啉草酯、肟草酮和炔草酯对碱茅、棒头草和多花黑麦草的防效均较好,在85.41%~100.00%之间,但对早熟禾的防效均较差,在19.08%~60.69%之间;另一种 ACC 抑制剂精噁唑禾草灵对棒头草防效为99.60%,对碱茅和多花黑麦草防效分别为72.00%和55.00%,对早熟禾仅为16.18%;植物光合系统Ⅱ抑制剂异丙隆对早熟禾、棒头草和碱茅的防效均较好,田间推荐剂量下防效在88.15%~96.53%之间,对多花黑麦草的效果略差,为67.43%。%Pyroxsulam,flucarbazone-Na,pinoxaden,tralkoxydim and clodinafop-propargyl are newly registered herbicides in China.A glasshouse experiment was conducted to evaluate the efficacy of these herbicides,com-pared with several commonly used herbicides,on four grass weed species in wheat fields.Key results were:1) The acetolactate synthase (ALS)inhibiting herbicide pyroxsulam achieved 93.06% control on Poa annua and 82.82%-86.89% control on Puccinellia distans ,Lolium multiflorum ,Polypogon fugax (all herbicides ap-plied at recommended field dose rates).2)Other ALS inhibiting herbicides

  6. Revisión bibliográfica sobre la influencia de la baja visión en el estado socioemocional y la calidad de vida de los pacientes mayores

    OpenAIRE

    García Manjarrés, Marta

    2014-01-01

    En esta revisión bibliográfica se objetiva la dificultad de establecer una definición universal para la baja visión a lo largo de la historia. Se puede apreciar cómo los conceptos y definiciones han ido modificándose y evolucionando con el tiempo. Sólo la ceguera total o amaurosis implica ausencia de visión. Pero la mayoría de las personas a las que llamamos comúnmente “ciegas” conservan restos visuales que pueden ser útiles en su vida diaria. Así, entre la ceguera y la visión ...

  7. Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Jensen, Hanne; Larsen, Michael;

    2013-01-01

    Abstract Purpose: The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children. Methods: The Danish Registry for the Blind and Partially Sighted Children comprises all visually impaired......: Of the 1,204,235 Danish children aged 0-17 years on 1 October 2011, 2017 children were registered as visually impaired. Of these, 153 cases were attributed to generalized retinal dystrophy, corresponding to a prevalence of 13 per 100,000 children. The age-specific prevalence increased prominently...... dystrophy in Danish children is 13 per 100,000, which is a considerable increase compared to the 9.8 per 100,000 reported by Rosenberg in 1988. The prevalence of Leber congenital amaurosis, Usher syndrome, and Bardet-Biedl syndrome doubled, which may be explained by a documented history of consanguinity...

  8. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

    Indian Academy of Sciences (India)

    Carlos A. Murga-Zamalloa; Anand Swaroop; Hemant Khanna

    2009-12-01

    Dysfunction of primary cilia due to mutations in cilia-centrosomal proteins is associated with pleiotropic disorders. The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein mutated in >70% of X-linked RP cases and 10%–20% of simplex RP males. Accumulating evidence indicates that RPGR may facilitate the orchestration of multiple ciliary protein complexes. Disruption of these complexes due to mutations in component proteins is an underlying cause of associated photoreceptor degeneration. Here, we highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and RPGR-interacting proteins in severe genetic diseases, including retinitis pigmentosa, Leber congenital amaurosis (LCA), Joubert syndrome, and Senior–Loken syndrome, and explore the physiological relevance of photoreceptor ciliary protein complexes.

  9. Bilateral posterior RION after concomitant radiochemotherapy with temozolomide in a patient with glioblastoma multiforme: a case report

    International Nuclear Information System (INIS)

    Radiation induced optic neuropathy (RION) is a rare but severe consequence of radiation therapy that is associated with adjuvant chemotherapy, specifically therapy with vincristine or nitrosoureas. However, there is very little evidence regarding the occurrence of RION after concomitant radiochemotherapy with temozolomide. The case of a 63 year old woman with glioblastoma multiforme and concomitant radiochemotherapy with temozolomide is described. Due to a slight depressive episode the patient also took hypericum perforatum. Five months after cessation of fractionated radiation and adjuvant chemotherapy with temozolomide (cumulative dose of 11040 mg) the patient developed bilateral amaurosis due to RION. Tumor regrowth was excluded by magnetic resonance imaging. After the application of gadolinium a pathognomonic contrast enhancement of both prechiasmatic optic nerves could be observed. In this patient, the occurrence of RION may have been the result of radiosensitization by temozolomide, which could have been strengthened by hypericin. Consequently, physicians should avoid a concomitant application of hypericum perforatum and radiochemotherapy

  10. An unusual case of a serious blunt injury of the eye

    Directory of Open Access Journals (Sweden)

    Jovanović Miloš

    2009-01-01

    Full Text Available Introduction. Optic nerve avulsion is a serious injury of the eye. The objective of the paper was to present the peculiarity of the eye injury caused by a penetrating orbital wound with foreign body being retained in the orbit. Case report. A 15-year-old boy who sustained injury by chain link is presented. While he was turning the chain round in his hand, the last link broke off, piercing the lower lid, penetrated the left orbital cavity and remained behind the eyeball at the top of orbit. While passing towards the top of the orbit, the foreign body caused a blunt injury of the eyeball and avulsion of the ocular nerve. The accurate localization of the foreign body was verified by X-ray and CT imaging. The foreign body was removed through the entry wound. The eye injury resulted in amaurosis. Conclusion. This injury was one of those that could have been prevented.

  11. Primary central nervous system peripheral T-cell lymphoma in a child.

    Science.gov (United States)

    Gualco, Gabriela; Wludarski, Sheila; Hayashi-Silva, Luciana; Medeiros Filho, Plinio; Veras, Geni; Bacchi, Carlos Eduardo

    2010-01-01

    A 10-year-old Caucasian boy was admitted to the hospital with a 3-month history of headache, vomiting, ataxia, and right amaurosis. A magnetic resonance imaging (MRI) showed a solid, expansive, parasagittal mass in the right parietal hemisphere that extended sagitally to include the optical chiasm. The lesion was considered unresectable. Histology and immunophenotyping of biopsy tissue revealed characteristics of peripheral T-cell lymphoma. No other anatomical region, including bone marrow, was compromised. Primary T-cell lymphomas of the central nervous system are rare, especially in childhood. Here, we describe the rapidly deteriorating and fatal clinical course of a boy with a primary T-cell lymphoma in the central nervous system.

  12. Migraine with persistent aura in a Mexican patient: case report and review of the literature.

    Science.gov (United States)

    San-Juan, O D; Zermeño, P F

    2007-05-01

    Persistent aura symptoms in patients with migraine are rare but well documented. The International Headache Society defines persistent aura without infarction as when the aura symptoms persist for > 1 week without radiographic evidence of infarction. The visual aura of migraine attacks has been explained by cortical spreading depression. We describe a case of a 28-year-old Mexican woman, who presented with persistent aura symptoms, and a literature review. The patient had a 24-year history of migraine headache. In November 2005 the patient had an attack which started with scintillating scotomas bilaterally associated with photopsias and amaurosis followed by migraine headache. All imaging studies were negative. The episode lasted 35 days and probably resolved with nimodipine therapy. Persistent aura symptoms are rare entities. This is the first case documented of a Mexican patient with persistent aura without infarction and probably resolved with nimodipine therapy.

  13. Emergency placement of stent-graft for symptomatic acute carotid artery occlusion after endarterectomy.

    Science.gov (United States)

    Ko, Jun Kyeung; Choi, Chang Hwa; Lee, Sang Weon; Lee, Tae Hong

    2016-03-01

    A patient underwent a left-sided carotid endarterectomy (CEA) for an asymptomatic 80% carotid artery (CA) stenosis. There were no signs of intolerance during the carotid cross-clamping and an initially uneventful awakening was observed. However, in the third postoperative hour he experienced left amaurosis and dysarthria. An urgent MRI showed an occluded internal CA on the operated site without evidence of acute infarction. To recanalize the occluded internal CA and minimize leakage from the arteriotomy site, a self-expandable stent-graft was placed, covering the dissection and the distal atherosclerotic lesions. Complete recanalization of the left internal CA was achieved and the patient showed a dramatic improvement of his preoperative deficits. To our knowledge, this is the first case of stent-graft implantation for a symptomatic acute CA occlusion following CEA. Stent-graft placement should be considered as an alternative method of treatment for acute CA occlusion or dissection following CEA. PMID:25653229

  14. Genetics in Ophthalmology III – Posterior Segment Diseases

    Directory of Open Access Journals (Sweden)

    Canan Aslı Utine

    2012-10-01

    Full Text Available Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes increasingly important that physicians from all disciplines have knowledge about the basic principles of genetics, patterns of inheritance, etc., so that they can follow the new developments. In genetic eye diseases, ophthalmologists should know the basic clinical and recently rapidly developing genetic characteristics of these diseases in order to properly approach the diagnosis and treatment and to provide genetic counseling. In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia, retinitis pigmentosa, choroideremia, gyrate atrophy, Alström disease, ocular albinism, optic nerve hypoplasia, anophthalmia/microphthalmia and Leber’s congenital amaurosis are covered. (Turk J Ophthalmol 2012; 42: 386-92

  15. Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?

    Science.gov (United States)

    Mackey, David A; Kearns, Lisa S; Hewitt, Alex W

    2016-01-01

    Leber hereditary optic neuropathy has now joined Leber congenital amaurosis in the list of genetic eye diseases undergoing gene therapy clinical trials. Although a dramatic response to treatment would be welcome, a minor improvement in vision is a major challenge in efficacy assessment, given this may occur spontaneously as part of the natural history of minor recovery in some patients. Thus, we must await the outcome of adequately powered clinical trials to know if the treatment is effective, particularly given the likely high cost of such therapeutic interventions in the future. We need global cooperation to ensure that the most suitable patients are enrolled in these trials and that support is provided for participants who need to travel from the Asia-Pacific region to Europe or North America if there are no local arms of these trials. PMID:27488066

  16. [Changes introduced into the recent International Classification of Headache Disorders: ICHD-III beta classification].

    Science.gov (United States)

    Belvis, Robert; Mas, Natàlia; Roig, Carles

    2015-01-16

    Introduccion. La Sociedad Internacional de Cefaleas (IHS) ha publicado la tercera edicion de la Clasificacion Internacional de las Cefaleas (ICHD-III beta), la guia diagnostica de las cefaleas mas utilizada en el mundo. Objetivo. Revisar las recientes aportaciones de la guia, explicando las nuevas entidades que en ella aparecen y comparando las entidades que han matizado sus criterios con sus criterios de la edicion precedente. Desarrollo. Hemos registrado multitud de matices en los criterios de practicamente todas las cefaleas y neuralgias de la clasificacion, pero las entidades que han experimentado mas matizaciones trascendentales son la migraña cronica, la cefalea asociada exclusivamente a la actividad sexual, las cefaleas neuralgiformes unilaterales de breve duracion, la cefalea diaria persistente de novo, la cefalea por abuso de medicacion sintomatica, el sindrome de cefalea y deficits neurologicos transitorios con pleocitosis linfocitaria. Las entidades nuevas mas destacables que se han incorporado son las cefaleas por presion externa, las cefaleas por crioestimulo, la cefalea numular, la cefalea atribuida a vuelos de avion y la cefalea atribuida a disreflexia autonomica. Tambien cabe destacar las nuevas cefaleas, aun no consideradas como entidades, que se incorporan al apendice, entre las que destacan la epicranea fugax, la migraña vestibular y los colicos infantiles. Conclusiones. La IHS recomienda utilizar ya la nueva clasificacion (ICHD-III beta), prescindiendo de la anterior clasificacion, en la asistencia, la docencia y la investigacion, asi como hacer la maxima difusion de esta nueva guia.

  17. 11 Wild Silkworm Resources Distributed in Liaoning Province%分布在辽宁省的11种野蚕资源

    Institute of Scientific and Technical Information of China (English)

    杜占军; 杨桂梅; 陈凤林; 王建业; 仝振祥

    2011-01-01

    By means of field survey and consulting relevant materials, it is clear that except for tussah silkworm, there are 11 other wild silkworm species distributed in Liaoning province, namely, Antheraea yamamai, Dictyoploca japonica, Samia cynthia, Rhodinia fugax, Actias selene ningpoana, Erigyna pyretorum pyretorum, Samia cynthia ricina, Caligula boisduvalii fallax, Dictyoploca cachara, Rhodinia jankowskii, and Aglia tau amurensis, which belong to spinning insect from family Saturniidae. General information about these 11 wild silkworm species such as distribution, food plant, biological character and current situation of utilization was summarized, aiming to provide basic information for further research and protection of these wild species.%通过近几年在辽宁省各地实地考察和查阅相关文献资料,明确辽宁省分布的野蚕资源除柞蚕以外,还有天蚕、栗蚕、樗蚕、透目大蚕、柳蚕、樟蚕、蓖麻蚕、合目大蚕、胡桃大蚕、曲线透目大蚕、丁目大蚕等11种野蚕,这11种野蚕属大蚕蛾科(Satumiidae)的泌丝昆虫.概述11种野蚕在辽宁省的分布、取食植物、生物学特性及开发利用现状,为野蚕资源的保护、研究和开发利用提供基础信息.

  18. Novel mutations in two Saudi patients with congenital retinal dystrophy

    Directory of Open Access Journals (Sweden)

    Leen Abu Safieh

    2016-01-01

    Full Text Available To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA and Alström syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L. Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814*. Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies

  19. Bilateral posterior RION after concomitant radiochemotherapy with temozolomide in a patient with glioblastoma multiforme: a case report

    Directory of Open Access Journals (Sweden)

    Gademann Guenther

    2010-10-01

    Full Text Available Abstract Background Radiation induced optic neuropathy (RION is a rare but severe consequence of radiation therapy that is associated with adjuvant chemotherapy, specifically therapy with vincristine or nitrosoureas. However, there is very little evidence regarding the occurrence of RION after concomitant radiochemotherapy with temozolomide. Case Presentation The case of a 63 year old woman with glioblastoma multiforme and concomitant radiochemotherapy with temozolomide is described. Due to a slight depressive episode the patient also took hypericum perforatum. Five months after cessation of fractionated radiation and adjuvant chemotherapy with temozolomide (cumulative dose of 11040 mg the patient developed bilateral amaurosis due to RION. Tumor regrowth was excluded by magnetic resonance imaging. After the application of gadolinium a pathognomonic contrast enhancement of both prechiasmatic optic nerves could be observed. Conclusions In this patient, the occurrence of RION may have been the result of radiosensitization by temozolomide, which could have been strengthened by hypericin. Consequently, physicians should avoid a concomitant application of hypericum perforatum and radiochemotherapy.

  20. Adeno-Associated Virus-Mediated Gene Transfer to Renal Tubule Cells via a Retrograde Ureteral Approach

    Directory of Open Access Journals (Sweden)

    Daniel C. Chung

    2011-11-01

    Full Text Available Background/Aims: Gene therapy involves delivery of exogenous DNA to provide a therapeutic protein. Ideally, a gene therapy vector should be non-toxic, non-immunogenic, easy to produce, and efficient in protecting and delivering DNA into target cells. Methods: Adeno-associated virus (AAV offers these advantages and few, if any, disadvantages, and over 100 isolates exist. We previously showed that AAV-mediated gene therapy can be used to restore vision to patients with Leber’s congenital amaurosis, a disease of childhood blindness. Results: Here we show that novel recombinant AAV2/8 and AAV2/9 transduce kidney tubule cells with high efficiency both in vitroin cell culture and in vivoin mice. In addition, we adapted and modified a retrograde approach to allow for optimal transgene delivery to renal tubular cells that further minimizes the risk of an immunogenic reaction. Conclusions: We believe that recombinant AAV2, especially AAV2/8, gene delivery to renal tubule cells via a retrograde approach represents a viable method for gene therapy for a multitude of renal disorders ranging from autosomal dominant polycystic kidney disease to acute kidney injury.

  1. RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

    Indian Academy of Sciences (India)

    Biju Joseph; Anuradha Srinivasan; Nagasamy Soumittra; Authiappan Vidhya; Nitin Shridhara Shetty; Satagopan Uthra; Govindasamy Kumaramanickavel

    2002-04-01

    We used multiplex PCR followed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber’s congenital amaurosis (LCA) patients. The RPE65 protein is believed to play an important role in the metabolism of vitamin A in the visual cycle and mutations identified in the gene could have implications for vitamin A-based therapeutic intervention. We were able to identify a homozygous mutation (AAT → AAG) in exon 9 in an arRP patient and a heterozygous missense transversion (AAT → AAG) also in exon 9 of an LCA patient. We also identified a polymorphism in exon 10 (GAG → GAA) in an arRP as well as an LCA patient. Mutation screening would be greatly facilitated by multiplex PCR which could cut down costs, labour and time involved. The nucleotide changes observed in this study could be de novo. Though a larger study has been undertaken, from the preliminary results it appears that in India the RPE65 gene seems to be less involved in causation of LCA.

  2. Vitamin A derivatives as treatment options for retinal degenerative diseases.

    Science.gov (United States)

    Perusek, Lindsay; Maeda, Tadao

    2013-07-12

    The visual cycle is a sequential enzymatic reaction for vitamin A, all-trans-retinol, occurring in the outer layer of the human retina and is essential for the maintenance of vision. The central source of retinol is derived from dietary intake of both retinol and pro-vitamin A carotenoids. A series of enzymatic reactions, located in both the photoreceptor outer segment and the retinal pigment epithelium, transform retinol into the visual chromophore 11-cis-retinal, regenerating visual pigments. Retina specific proteins carry out the majority of the visual cycle, and any significant interruption in this sequence of reactions is capable of causing varying degrees of blindness. Among these important proteins are Lecithin:retinol acyltransferase (LRAT) and retinal pigment epithelium-specific 65-kDa protein (RPE65) known to be responsible for esterification of retinol to all-trans-retinyl esters and isomerization of these esters to 11-cis-retinal, respectively. Deleterious mutations in these genes are identified in human retinal diseases that cause blindness, such as Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). Herein, we discuss the pathology of 11-cis-retinal deficiency caused by these mutations in both animal disease models and human patients. We also review novel therapeutic strategies employing artificial visual chromophore 9-cis-retinoids which have been employed in clinical trials involving LCA patients.

  3. Vitamin A Derivatives as Treatment Options for Retinal Degenerative Diseases

    Directory of Open Access Journals (Sweden)

    Tadao Maeda

    2013-07-01

    Full Text Available The visual cycle is a sequential enzymatic reaction for vitamin A, all-trans-retinol, occurring in the outer layer of the human retina and is essential for the maintenance of vision. The central source of retinol is derived from dietary intake of both retinol and pro-vitamin A carotenoids. A series of enzymatic reactions, located in both the photoreceptor outer segment and the retinal pigment epithelium, transform retinol into the visual chromophore 11-cis-retinal, regenerating visual pigments. Retina specific proteins carry out the majority of the visual cycle, and any significant interruption in this sequence of reactions is capable of causing varying degrees of blindness. Among these important proteins are Lecithin:retinol acyltransferase (LRAT and retinal pigment epithelium-specific 65-kDa protein (RPE65 known to be responsible for esterification of retinol to all-trans-retinyl esters and isomerization of these esters to 11-cis-retinal, respectively. Deleterious mutations in these genes are identified in human retinal diseases that cause blindness, such as Leber congenital amaurosis (LCA and retinitis pigmentosa (RP. Herein, we discuss the pathology of 11-cis-retinal deficiency caused by these mutations in both animal disease models and human patients. We also review novel therapeutic strategies employing artificial visual chromophore 9-cis-retinoids which have been employed in clinical trials involving LCA patients.

  4. Directed evolution of novel adeno-associated viruses for therapeutic gene delivery.

    Science.gov (United States)

    Bartel, M A; Weinstein, J R; Schaffer, D V

    2012-06-01

    Gene therapy vectors based on adeno-associated virus (AAV) are currently in clinical trials for numerous disease targets, such as muscular dystrophy, hemophilia, Parkinson's disease, Leber's congenital amaurosis and macular degeneration. Despite its considerable promise and emerging clinical success, several challenges impede the broader implementation of AAV gene therapy, including the prevalence of neutralizing antibodies in the human population, low transduction of a number of therapeutically relevant cell and tissue types, an inability to overcome physical and cellular barriers in vivo and a relatively limited carrying capacity. These challenges arise as the demands we place on AAV vectors are often different from or even at odds with the properties nature bestowed on their parent viruses. Viral-directed evolution-the iterative generation of large, diverse libraries of viral mutants and selection for variants with specific properties of interest-offers an approach to address these problems. Here we outline progress in creating novel classes of AAV variant libraries and highlight the successful isolation of variants with novel and advantageous in vitro and in vivo gene delivery properties. PMID:22402323

  5. Crystal structure of native RPE65, the retinoid isomerase of the visual cycle

    Energy Technology Data Exchange (ETDEWEB)

    Kiser, Philip D.; Golczak, Marcin; Lodowski, David T.; Chance, Mark R.; Palczewski, Krzysztof; (WRU-MED)

    2009-12-01

    Vertebrate vision is maintained by the retinoid (visual) cycle, a complex enzymatic pathway that operates in the retina to regenerate the visual chromophore, 11-cis-retinal. A key enzyme in this pathway is the microsomal membrane protein RPE65. This enzyme catalyzes the conversion of all-trans-retinyl esters to 11-cis-retinol in the retinal pigment epithelium (RPE). Mutations in RPE65 are known to be responsible for a subset of cases of the most common form of childhood blindness, Leber congenital amaurosis (LCA). Although retinoid isomerase activity has been attributed to RPE65, its catalytic mechanism remains a matter of debate. Also, the manner in which RPE65 binds to membranes and extracts retinoid substrates is unclear. To gain insight into these questions, we determined the crystal structure of native bovine RPE65 at 2.14-{angstrom} resolution. The structural, biophysical, and biochemical data presented here provide the framework needed for an in-depth understanding of the mechanism of catalytic isomerization and membrane association, in addition to the role mutations that cause LCA have in disrupting protein function.

  6. C2 Domains as Protein-Protein Interaction Modules in the Ciliary Transition Zone

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    Kim Remans

    2014-07-01

    Full Text Available RPGR-interacting protein 1 (RPGRIP1 is mutated in the eye disease Leber congenital amaurosis (LCA and its structural homolog, RPGRIP1-like (RPGRIP1L, is mutated in many different ciliopathies. Both are multidomain proteins that are predicted to interact with retinitis pigmentosa G-protein regulator (RPGR. RPGR is mutated in X-linked retinitis pigmentosa and is located in photoreceptors and primary cilia. We solved the crystal structure of the complex between the RPGR-interacting domain (RID of RPGRIP1 and RPGR and demonstrate that RPGRIP1L binds to RPGR similarly. RPGRIP1 binding to RPGR affects the interaction with PDEδ, the cargo shuttling factor for prenylated ciliary proteins. RPGRIP1-RID is a C2 domain with a canonical β sandwich structure that does not bind Ca2+ and/or phospholipids and thus constitutes a unique type of protein-protein interaction module. Judging from the large number of C2 domains in most of the ciliary transition zone proteins identified thus far, the structure presented here seems to constitute a cilia-specific module that is present in multiprotein transition zone complexes.

  7. The retinal ciliopathies.

    Science.gov (United States)

    Adams, N A; Awadein, Ahmed; Toma, Hassanain S

    2007-09-01

    While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes. Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit development, obesity, kidney disease, liver disease, and respiratory disease. The concept of "retinal ciliopathies" brings to attention the importance of further molecular analysis of this organelle as well as provides a potential common target for therapies for these disorders. The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, Laurence-Moon syndrome, McKusick-Kaufman syndrome, and Biemond syndrome. Mutations for these disorders have been found in retinitis pigmentosa-1 (RP1), retinitis pigmentosa GTPase regulator (RPGR), retinitis pigmentosa GTPase regulator interacting protein (RPGR-IP), as well as the Usher, Bardet-Biedl, and nephronophthisis genes. Other systemic disorders associated with retinal degenerations that may also involve ciliary abnormalities include: Alstrom, Edwards-Sethi, Ellis-van Creveld, Jeune, Meckel-Gruber, Orofaciodigital Type 9, and Gurrieri syndromes. Understanding these conditions as ciliopathies may help the ophthalmologist to recognize associations between seemingly unrelated diseases and have a high degree of suspicion that a systemic finding may be present. PMID:17896309

  8. RE-EDUCATIVE METHOD IN THE PROCESS OF MINIMIZING OF AUTOAGRESIVE WAYS OF BEHAVIOR

    Directory of Open Access Journals (Sweden)

    Nenad GLUMBIC

    1999-05-01

    Full Text Available Autoagressive behavior is a relatively frequent symptom of mental disturbances and behavior disturbances which are the subject of professional engagement of clinically oriented defectologists. In the process of rehabilitation numerous methods are used, from behavioral to psychopharmacological ones by which the above mentioned problems are eliminated of softened.The paper deals with four children with different diagnosis (autism, disintegrative psychosis, Patau syndrome and amaurosis that have the same common denominator-mental retardation and autoagression.We have tried to point out-by the description of a study case as well as the ways od work with these children-an application possibly of the particular methods of general and special re-education of psychomotorics in the process of autoagressive ways of behavior minimizing.The paper gives the autor’s notion of indications for re-educative method application with in the multihandicapped children population. Defectological treatment discovers new forms of existence in the existential field, not only to the retarded child but also to the very therapist. Epistemological consequences of the mentioned transfer are given in details in the paper.

  9. Efficiency of using rituximab in a patient with generalized granulomatosis with polyangiitis: A case report

    Directory of Open Access Journals (Sweden)

    Gulazyk Malikovna Koilubaeva

    2014-01-01

    Full Text Available Systemic vasculitides (SVs are characterized by inflammation of the blood vessels wall; the spectrum of their clinical manifestations depends on the type, extent, and location of affected vessels and the activity of systemic inflammation. The etiology of most primary SVs is unknown. Antineutrophil cytoplasmic antibodies (ANCAs are implicated in its pathogenesis. The presence of ANCAa in patients' serum and the correlation of their level with the severity of clinical manifestations served as a basis for identifying a subgroup of systemic necrotizing vasculitides associated with ANCA synthesis: granulomatosis with polyangiitis (GPA, microscopic polyangiitis, and Churg – Strauss syndrome. GPA is characterized by systemic granulomatous necrotizing vasculitis involving the small vessels of the upper respiratory tract, lung, and kidney.The paper describes a case of difficult diagnosis and successful rituximab (RTM treatment of generalized GPA in a 45-year-old female patients. The disease occurred with local damage to the upper respiratory tract, granulomatous inflammation of the pulmonary vessels to form multiple infiltrates with lung tissue destruction elements and necrotizing glomerulonephritis. Despite intensive immunosuppressive treatment, there was a rapid GPA progression with the further development of respiratory failure, which had been induced by stenotic laryngitis subglottica leading to tracheostoma. Damage to the organ of vision could lead to severe complications, including amaurosis. RMT was shown to be effective in treating generalized GPA with a poor prognosis.

  10. Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

    Science.gov (United States)

    Shaikh, Rehan S; Reuter, Peggy; Sisk, Robert A; Kausar, Tasleem; Shahzad, Mohsin; Maqsood, Muhammad I; Yousif, Ateeq; Ali, Muhammad; Riazuddin, Saima; Wissinger, Bernd; Ahmed, Zubair M

    2015-04-01

    We assessed a large consanguineous Pakistani family (PKAB157) segregating early onset low vision problems. Funduscopic and electroretinographic evaluation of affected individuals revealed juvenile cone-rod dystrophy (CRD) with maculopathy. Other clinical symptoms included loss of color discrimination, photophobia and nystagmus. Whole-exome sequencing, segregation and haplotype analyses demonstrated that a transition variant (c.955T>C; p.(Cys319Arg)) in CNGA3 co-segregated with the CRD phenotype in family PKAB157. The ability of CNGA3 channel to influx calcium in response to agonist, when expressed either alone or together with the wild-type CNGB3 subunit in HEK293 cells, was completely abolished due to p.Cys319Arg variant. Western blotting and immunolocalization studies suggest that a decreased channel density in the HEK293 cell membrane due to impaired folding and/or trafficking of the CNGA3 protein is the main pathogenic effect of the p.Cys319Arg variant. Mutant alleles of the human cone photoreceptor cyclic nucleotide-gated channel (CNGA3) are frequently associated with achromatopsia. In rare cases, variants in CNGA3 are also associated with cone dystrophy, Leber's congenital amaurosis and oligo cone trichromacy. The identification of predicted p.(Cys319Arg) missense variant in CNGA3 expands the repertoire of the known genetic causes of CRD and phenotypic spectrum of CNGA3 alleles. PMID:25052312

  11. 心房颤动伴长RR间期的食管电生理研究%Esophagus electrophysiological test in atrial fibrillation associated with long RR interval

    Institute of Scientific and Technical Information of China (English)

    杨鹏伟

    2011-01-01

    Objective To improve awareness and diagnostic level of atrial fibrillation associated with long RR interval. Methods A clinical data of 22 cases of atrial fibrillation associated with long RR interval were analyzed retrospectively. Results Ninteen cases occurred in night or sleep without obvious symptom, 3 cases all occurred after a day of activity accompanied by dizzyamaurosis fugax and swoon. Sinoatrial node and atrioventricular node function of 19 cases were normal after electrical conversion in esophagus eleetrophysiological test. One ease was diagnosed sick sinus syndrome and 2 cases were diagnosed high grade A - V block, these 3 cases all received pacemaker implantation. Conclusions The mechanism of atrial fibrillation associated with long RR interval is complex whether sick sinus syndrome existing or pathological atrioventricular block are allowed to determine by hoher combined symptom.%目的 提高对心房颤动伴长RR间期的认识及诊断水平.方法 回顾性分析我院22例心房颤动伴长RR间期患者的临床资料.结果 19例长RR间期发生于夜间或睡眠时,患者无明显症状;3例伴有头晕、一过性黑朦、晕厥的患者均发生在白天活动后.电复律后食管电生理检查,19例房室结功能正常,1例诊断为病态窦房结综合征,2例诊断为高度房室传导阻滞,3例患者安装永久起搏器.结论 心房颤动伴长RR间期的机制较复杂,动态心电图和症状结合有助于判断是否存在病理性房室传导阻滞或病态窦房结综合征.

  12. Radiologic diagnosis of Legg-Calve-Perthes disease; Radiologische Diagnostik des Morbus Perthes

    Energy Technology Data Exchange (ETDEWEB)

    Ranner, G. [Graz Univ. (Austria). Universitaetsklinik fuer Radiologie und Gemeinsame Einrichtung von Kliniken und Instituten ``Magnet Resonanz``; Fotter, R. [Graz Univ. (Austria). Universitaetsklinik fuer Radiologie und Gemeinsame Einrichtung von Kliniken und Instituten ``Magnet Resonanz``; Linhart, W. [Graz Univ. (Austria). Universitaetsklinik fuer Radiologie und Gemeinsame Einrichtung von Kliniken und Instituten ``Magnet Resonanz``; Ebner, F. [Graz Univ. (Austria). Universitaetsklinik fuer Radiologie und Gemeinsame Einrichtung von Kliniken und Instituten ``Magnet Resonanz``

    1994-01-01

    In Legg-Calve-Perthes disease (LCPD), magnetic resonance imaging (MRI) and conventional radiography in two planes are considered the most important methods of investigation for early diagnosis and for assessment of the course of the disease. MRI can reveal the early marrow oedema, thus allowing early differential diagnosis against diseases that are similar in clinical appearance (coxitis fugax, epiphyseal dysplasia). The extent of the necrotica area within the epiphysis, the most important indicator of the prognosis of the disease and thus for the therapeutic management, can be assessed earlier and more reliably with MRI than with other techniques. The loss of containment can be visualized by MRI, because depiction of the cartilaginous structures is possible earlier than with conventional radiography. Staging of LCPD is also possible with MRI, especially in stages I and II. Radiography shows the reossification and the osseous remodelling of the epiphysis better. A disadvantage of MRI seems to be the occasional need for sedation or anaesthesia of the child to avoid motion artefacts. (orig.) [Deutsch] In der radiologischen Fruehdiagnostik und Verlaufsbeurteilung des Morbus Legg-Calve-Perthes stehen als aussagekraeftigste Methoden das konventionelle Roengten in 2 Ebenen, die MRT und die Knochenszintigraphie im Vordergrund. In der Fruehdiagnostik bewaehrt sich die Magnetresonanztomographie als empfindliche Methode. Mit aehnlicher Sensitivitaet kann die Knochenszintigraphie die umschriebene Durchblutungsstoerung nachweisen. Daraus ergeben sich Moeglichkeiten zur bereits fruehzeitigen Differentialdiagnose gegenueber Krankheitsbildern mit aehnlicher klinischer Symptomatik. Die Groesse des Nekroseareals als prognostisch bedeutsamster und somit fuer die einzuschlagende Therapie richtungsweisender Faktor kann ebenfalls mittels MR-Tomographie am fruehesten und verlaesslichsten bestimmt werden. Kommt es im Verlauf der Erkrankung durch Subluxation des Caput femoris zum Verlust

  13. Metastasis of hepatocellular carcinoma presented as a tumor of the maxillary sinus and retrobulbar tumor

    Directory of Open Access Journals (Sweden)

    Kolarević Daniela

    2011-01-01

    Full Text Available Introduction. Hepatocellular carcinoma (HCC is the most frequent primary malignant tumor of the liver. It is usually seen in the 6th and 7th decades of life and chronic hepatitis B is the most frequent cause. Extrahepatic metastasis of HCC is an indicator of a poor prognosis and the most common sites are lungs, bones, lymph nodes, kidneys and adrenal glands. We reported a case of isolated metastasis in the right maxilla, which had been found initially, before the tumor in the liver was diagnosed. Case report. A 70-year-old man underwent dental surgery of the upper right molar. Prolonged bleeding control was difficult for up to two weeks, so the biopsy was performed. Histopathological analysis revealed a metastatic hepatocellular carcinoma. Computerized tomography (CT of the abdomen revealed a diffusely heterogeneous liver parenchyma with irregular borders and two foci of mass lesions. There were metastasis in the spleen and also two pathological retroperitoneal lymph nodes were detected, but no ascit, liver cirrhosis, cholestasis or portal vein thrombosis were seen. CT of the orbital and maxillary regions revealed a tumor mass in the right maxillary sinus, spreading to the alveolar sinus, nasal cavity and partially infratemporal space. A tumor mass was in the right orbit as well, infiltrating the surrounding bones and muscles. Clinically, there was proptosis of the right eye accompanied by amaurosis. The treatment started with chemotherapy based on 5-fluorouracil (sorafenib was not available. After three cycles, control CTs showed a stable disease in the liver, but progression in the right maxillary sinus and orbit. Enucleation of the right eye was performed and postoperative radiotherapy was planed. The patient deteriorated rapidly and died, about 6 months after the disease had been diagnosed. Conclusion. Extrahepatic metastasis of HCC represents a progressive phase of the disease with poor prognosis, so the main aim of the treatment should be

  14. rAAV human trial experience.

    Science.gov (United States)

    High, Katherine A; Aubourg, Patrick

    2011-01-01

    Recombinant AAV vectors have been used in clinical trials since the mid-1990s, with over 300 subjects enrolled in studies. Although there are not yet licensed AAV products, there are several clear examples of clinical efficacy, and recombinant AAV vectors have a strong safety record after administration both locally and systemically. This chapter provides a review of two types of studies that have shown efficacy, including studies for Leber's congenital amaurosis, a hereditary retinal degenerative disorder in which subretinal administration of AAV has shown efficacy in terms of improvement in multiple measures of visual/retinal function; and of Parkinson's disease which has also shown improvement in clinical and imaging studies after gene transfer to the CNS. The chapter also provides a detailed review of the results of studies of gene therapy for hemophilia, in which short-term efficacy was achieved, but expression of the donated gene failed to persist, likely due to an immune response to the vector. Safety issues relating to AAV-mediated gene transfer are discussed, including a detailed review of the single death to have occurred in an AAV gene therapy trial (likely unrelated to the AAV vector), and of issues related to integration and insertional mutagenesis, risk of germline transmission, and risks related to immune responses to either vector or transgene product. Finally, protocols for determining the presence of vector DNA in body fluids using real-time quantitative PCR, and for isolating, cryopreserving, and testing peripheral blood mononuclear cells for interferon-γ (IFN-γ) responses to capsid are described in detail. PMID:22034041

  15. Noninvasive Imaging Reveals Stable Transgene Expression in Mouse Airways After Delivery of a Nonintegrating Recombinant Adeno-Associated Viral Vector.

    Science.gov (United States)

    Vidović, Dragana; Gijsbers, Rik; Jimenez, Ana Quiles; Dooley, James; Van den Haute, Chris; Van der Perren, Anke; Liston, Adrian; Baekelandt, Veerle; Debyser, Zeger; Carlon, Marianne Sylvia

    2016-01-01

    Gene therapy holds promise to cure a wide range of genetic and acquired diseases. Recent successes in recombinant adeno-associated viral vector (rAAV)-based gene therapy in the clinic for hereditary disorders such as Leber's congenital amaurosis and hemophilia B encouraged us to reexplore an rAAV approach for pulmonary gene transfer. Only limited clinical successes have been achieved for airway gene transfer so far, underscoring the need for further preclinical development of rAAV-based gene therapy for pulmonary disorders. We sought to determine the preclinical potential of an airway-tropic serotype, rAAV2/5, encoding reporter genes when delivered to mouse airways. Although several groups have assessed the stability of gene transfer using a nonintegrating rAAV in mouse airways, long-term stability for more than a year has not been reported. Additionally, an extensive quantitative analysis of the specific cell types targeted by rAAV2/5 using cell-specific markers is lacking. We obtained sustained gene expression in upper and lower airways up to 15 months after vector administration, a substantial proportion of the lifespan of a laboratory mouse. In addition, we demonstrated that readministration of rAAV2/5 to the airways is feasible and increases gene expression 14 months after primary vector administration, despite the presence of circulating neutralizing antibodies. Finally, identification of transduced cell types revealed different subpopulations being targeted by rAAV2/5, with 64% of β-galactosidase-positive cells being ciliated cells, 34% club cells in the conducting airways, and 75% alveolar type II cells in the alveoli at 1 month postinjection. This underscores the therapeutic potential of a nonintegrating rAAV vector to develop a gene therapeutic drug for a variety of pulmonary disorders, such as cystic fibrosis, primary ciliary dyskinesia, and surfactant deficiencies. PMID:26567984

  16. Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates.

    Directory of Open Access Journals (Sweden)

    Daniel Boloc

    Full Text Available Retinitis pigmentosa (RP is a highly heterogeneous genetic visual disorder with more than 70 known causative genes, some of them shared with other non-syndromic retinal dystrophies (e.g. Leber congenital amaurosis, LCA. The identification of RP genes has increased steadily during the last decade, and the 30% of the cases that still remain unassigned will soon decrease after the advent of exome/genome sequencing. A considerable amount of genetic and functional data on single RD genes and mutations has been gathered, but a comprehensive view of the RP genes and their interacting partners is still very fragmentary. This is the main gap that needs to be filled in order to understand how mutations relate to progressive blinding disorders and devise effective therapies.We have built an RP-specific network (RPGeNet by merging data from different sources: high-throughput data from BioGRID and STRING databases, manually curated data for interactions retrieved from iHOP, as well as interactions filtered out by syntactical parsing from up-to-date abstracts and full-text papers related to the RP research field. The paths emerging when known RP genes were used as baits over the whole interactome have been analysed, and the minimal number of connections among the RP genes and their close neighbors were distilled in order to simplify the search space.In contrast to the analysis of single isolated genes, finding the networks linking disease genes renders powerful etiopathological insights. We here provide an interactive interface, RPGeNet, for the molecular biologist to explore the network centered on the non-syndromic and syndromic RP and LCA causative genes. By integrating tissue-specific expression levels and phenotypic data on top of that network, a more comprehensive biological view will highlight key molecular players of retinal degeneration and unveil new RP disease candidates.

  17. Bicarbonate and Ca(2+) Sensing Modulators Activate Photoreceptor ROS-GC1 Synergistically.

    Science.gov (United States)

    Duda, Teresa; Pertzev, Alexandre; Makino, Clint L; Sharma, Rameshwar K

    2016-01-01

    Photoreceptor ROS-GC1, a prototype subfamily member of the membrane guanylate cyclase family, is a central component of phototransduction. It is a single transmembrane-spanning protein, composed of modular blocks. In rods, guanylate cyclase activating proteins (GCAPs) 1 and 2 bind to its juxtamembrane domain (JMD) and the C-terminal extension, respectively, to accelerate cyclic GMP synthesis when Ca(2+) levels are low. In cones, the additional expression of the Ca(2+)-dependent guanylate cyclase activating protein (CD-GCAP) S100B which binds to its C-terminal extension, supports acceleration of cyclic GMP synthesis at high Ca(2+) levels. Independent of Ca(2+), ROS-GC1 activity is also stimulated directly by bicarbonate binding to the core catalytic domain (CCD). Several enticing molecular features of this transduction system are revealed in the present study. In combination, bicarbonate and Ca(2+)-dependent modulators raised maximal ROS-GC activity to levels that exceeded the sum of their individual effects. The F(514)S mutation in ROS-GC1 that causes blindness in type 1 Leber's congenital amaurosis (LCA) severely reduced basal ROS-GC1 activity. GCAP2 and S100B Ca(2+) signaling modes remained functional, while the GCAP1-modulated mode was diminished. Bicarbonate nearly restored basal activity as well as GCAP2- and S100B-stimulated activities of the F(514)S mutant to normal levels but could not resurrect GCAP1 stimulation. We conclude that GCAP1 and GCAP2 forge distinct pathways through domain-specific modules of ROS-GC1 whereas the S100B and GCAP2 pathways may overlap. The synergistic interlinking of bicarbonate to GCAPs- and S100B-modulated pathways intensifies and tunes the dependence of cyclic GMP synthesis on intracellular Ca(2+). Our study challenges the recently proposed GCAP1 and GCAP2 "overlapping" phototransduction model (Peshenko et al., 2015b). PMID:26858600

  18. 长R-R间期房颤病人的护理

    Institute of Scientific and Technical Information of China (English)

    宋枚子

    2012-01-01

    目的房颤是临床上常见的心律失常之一,也是当代心脏病学的两大流行病学之一。随着动态心电图等心电监护技术的普及,长R-R间期房颤情况愈加多见。发病时常导致患者心慌、心悸、晕厥、黑朦、心力衰竭,脏器供血不足,血栓形成及栓塞等,轻者影响生活质量,重者致死、致残。本文从长R-R间期房颤的病因、临床治疗以及护理等方面进行探讨,以期在以后的工作中防止此类患者发生意外伤害,保证患者的生命安全。%Atrial fibrillation is a common arrhythmia among,Is one of the two major epidemiological Contemporary Cardiology. With dynamic electrocardiogram ECG monitoring technology popularization, long R-R interval of atrial fibrillation more common situation. Often when the incidence of lead in patients with palpitation, heart palpitations, fainting, amaurosis heart failure, organ insufficiency, thrombosis and embolism, It may affect the quality of life, death, disability or. This article from the long R-R interval of atrial fibrillation in the etiology, clinical treatment and nursing were discussed, in order to work in the future to prevent such patients of accident, ensure the life safety of patients.

  19. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

    Directory of Open Access Journals (Sweden)

    Tobias Eisenberger

    Full Text Available Retinitis pigmentosa (RP and Leber congenital amaurosis (LCA are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS has proven useful to overcome this limitation. To uncover "hidden mutations" such as copy number variations (CNVs and mutations in non-coding regions, we extended the use of NGS data by quantitative readout for the exons of 55 RP and LCA genes in 126 patients, and by including non-coding 5' exons. We detected several causative CNVs which were key to the diagnosis in hitherto unsolved constellations, e.g. hemizygous point mutations in consanguineous families, and CNVs complemented apparently monoallelic recessive alleles. Mutations of non-coding exon 1 of EYS revealed its contribution to disease. In view of the high carrier frequency for retinal disease gene mutations in the general population, we considered the overall variant load in each patient to assess if a mutation was causative or reflected accidental carriership in patients with mutations in several genes or with single recessive alleles. For example, truncating mutations in RP1, a gene implicated in both recessive and dominant RP, were causative in biallelic constellations, unrelated to disease when heterozygous on a biallelic mutation background of another gene, or even non-pathogenic if close to the C-terminus. Patients with mutations in several loci were common, but without evidence for di- or oligogenic inheritance. Although the number of targeted genes was low compared to previous studies, the mutation detection rate was highest (70% which likely results from completeness and depth of coverage, and quantitative data analysis. CNV analysis should routinely be applied in targeted NGS, and mutations in non-coding exons give reason to systematically include 5'-UTRs in disease gene or exome panels. Consideration of all variants is indispensable

  20. Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease

    Science.gov (United States)

    Jacques, ZANEVELD; Feng, WANG; Xia, WANG; Rui, CHEN

    2013-01-01

    Personalized medicine aims to utilize genomic information about patients to tailor treatment. Gene replacement therapy for rare genetic disorders is perhaps the most extreme form of personalized medicine, in that the patients’ genome wholly determines their treatment regimen. Gene therapy for retinal disorders is poised to become a clinical reality. The eye is an optimal site for gene therapy due to the relative ease of precise vector delivery, immune system isolation, and availability for monitoring of any potential damage or side effects. Due to these advantages, clinical trials for gene therapy of retinal diseases are currently underway. A necessary precursor to such gene therapies is accurate molecular diagnosis of the mutation(s) underlying disease. In this review, we discuss the application of Next Generation Sequencing (NGS) to obtain such a diagnosis and identify disease causing genes, using retinal disorders as a case study. After reviewing ocular gene therapy, we discuss the application of NGS to the identification of novel Mendelian disease genes. We then compare current, array based mutation detection methods against next NGS-based methods in three retinal diseases: Leber’s Congenital Amaurosis, Retinitis Pigmentosa, and Stargardt’s disease. We conclude that next-generation sequencing based diagnosis offers several advantages over array based methods, including a higher rate of successful diagnosis and the ability to more deeply and efficiently assay a broad spectrum of mutations. However, the relative difficulty of interpreting sequence results and the development of standardized, reliable bioinformatic tools remain outstanding concerns. In this review, recent advances NGS based molecular diagnoses are discussed, as well as their implications for the development of personalized medicine. PMID:23393028

  1. THE NUMERICAL REPRESENTATION OF CHILDREN WITH DAMAGED EYESIGHT ON THE TERRITORY OF SKOPJE AND WORK ORGANIZATION WITH THIS POPULATION AT PRESCHOOL PERIOD

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    Snezana TALEVSKA

    1997-09-01

    Full Text Available The binocular function of the eyesight as a process develops as early as the first years of life.Taking into consideration the great number of inherent factors, which disturb the normal development of the eye-sight function, and the great number of causes of damages in the prenatal and natal period, the question of early detection of the reasons, diagnostics and treatment are of utmost importance.That’s possible, only if there is a cooperation among persons that are in the closest contacts with the child:· the mother;· the pediatrician;· the nurse;· the ophthalmologist;· the educator and· the physician.It’s not so necessary to talk about the importance of the sight in the human life, i.e. the importance of the binocular function of the children sight, from the early age when their psycho-physical development is the most flourishing.The importance of the early detection, diagnostics and treatment of the damaged eyesight is great. Especially, this is of great importance for ambliopia, which can be hardly detected at this early period, but it can be easily and successfully treated. We say it is hard to detect because of the delusion and inertness of parents, just during early years from birth to the 3 year, that the child is small and it’s too early to start a treatment.On the contrary, practice has shown that this time is lost and hardly can be compensate, either in means of cure of ambliopia and treatment or rehabilitation of amaurosis.The numerical data of children with damaged eyesight on the territory of Skopje and the need of organized work with this population of children at preschool age will be confirmed and enclosed.

  2. Neurocisticercose e síndrome de lennox-gastaut: relato de caso Neurocysticercosis and Lennox-Gastaut syndrome: case report

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    SVETLANA AGAPEJEV

    2000-06-01

    Full Text Available Relata-se o caso de uma menina que, aos 2 anos de idade, apresentou a forma epiléptica, hidrocefálica e encefalítica da neurocisticercose, diagnosticada por exame do líquido cefalorraqueano e tomografia computadorizada de crânio, evolução com crises polimórficas, episódios de descompensação da hipertensão intracraniana por obstrução do sistema de derivação ventriculoperitoneal, retardo no desenvolvimento neuropsicomotor e cegueira até que, aos 10 anos de idade, foi diagnosticada síndrome de Lennox-Gastaut. Atualmente, a paciente tem 16 anos, apresenta sequelas neurológicas e crises parciais complexas com automatismos, parcialmente controladas com o uso de clobazan e oxcarbazepina. A primeira associação de neurocisticercose e síndrome de Lennox-Gastaut foi descrita em 1973, por Frochtengarten & Scarante, em uma menina com quadro clínico semelhante ao do caso relatado.Report of a girl with the epileptic, hydrocephalic and encephalitic form of neurocysticercosis, diagnosed by cerebrospinal flui and computed tomography exams, during her second year of life and an evolution with multiple types of seizures, prolonged periods of intracranial hypertension due to obstruction in the ventriculoperitoneal shunt, psicomotor regression and blindness until she was 10 years old, when the Lennox-Gastaut syndrome was diagnosed. Nowadays the patient is 16 years old and presents complex partial seizures with automatism not completely controlled with clobazan and oxcarbazepine, associated to left spastic hemiparesis, universal hyperreflexia, psychomotor agitation, self-mutilation, amaurosis and severe mental retardation. The association between neurocysticercosis and Lennox-Gastaut syndrome was first described in 1973 by Frochtengarten & Scarante in a Brazilian girl with a similar clinical picture.

  3. Atypical clinical presentation and long-term survival in a patient with optic nerve medulloepithelioma: a case report

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    Pastora-Salvador Natalia

    2012-05-01

    Full Text Available Abstract Introduction Medulloepithelioma is a rare congenital tumor of the primitive medullary neuroepithelium. A significant proportion of patients with medulloepithelioma arising from the optic nerve die from intracranial spread or cerebral metastasis. Because it has no known distinct clinical features and because of its low frequency, this tumor presents within the first two to six years of life and is usually misdiagnosed clinically as a different type of optic nerve tumor. Here, we describe a new and atypical case of medulloepithelioma of the optic nerve in a 12-year-old boy. To the best of our knowledge, he is the oldest reported patient to present with this disease and, now as an adult, has the longest documented period of disease-free survival. Case presentation A 12-year-old Caucasian boy with headache and unilateral amaurosis was referred for a presumed optic nerve glioma to our hospital. A computed tomography scan showed optic nerve enlargement, and fundoscopy showed a whitish mass at the optic disc. Our patient had been followed at his local hospital for four years for an 'optic disc cyst' with no change or progression. He experienced mild progressive visual impairment during that period. He was admitted for resection, and a histopathological analysis revealed a medulloepithelioma of the optic nerve. Supplemental orbital radiotherapy was performed. He remained disease-free for 25 years. Conclusions Medulloepithelioma of the optic nerve can clinically mimic more common pediatric tumors, such as optic glioma, meningioma, or retinoblastoma. Thus, medulloepithelioma should be included in the differential diagnoses of pediatric optic nerve lesions. Fundoscopy in these patients may provide relevant information for diagnosis. Anterior optic nerve medulloepitheliomas may behave differently from and have a better prognosis than medulloepitheliomas that have a more posterior location. Our case report illustrates that long-term survival can be

  4. Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomography.

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    M Dominik Fischer

    Full Text Available BACKGROUND: Optical coherence tomography (OCT is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration. METHODOLOGY/PRINCIPAL FINDINGS: We achieved to adapt a commercial 3(rd generation OCT system to obtain and quantify high-resolution morphological sections of the mouse retina which so far required in vitro histology. OCT and histology were compared in models with developmental defects, light damage, and inherited retinal degenerations. In conditional knockout mice deficient in retinal retinoblastoma protein Rb, the gradient of Cre expression from center to periphery, leading to a gradual reduction of retinal thickness, was clearly visible and well topographically quantifiable. In Nrl knockout mice, the layer involvement in the formation of rosette-like structures was similarly clear as in histology. OCT examination of focal light damage, well demarcated by the autofluorescence pattern, revealed a practically complete loss of photoreceptors with preservation of inner retinal layers, but also more subtle changes like edema formation. In Crb1 knockout mice (a model for Leber's congenital amaurosis, retinal vessels slipping through the outer nuclear layer towards the retinal pigment epithelium (RPE due to the lack of adhesion in the subapical region of the photoreceptor inner segments could be well identified. CONCLUSIONS/SIGNIFICANCE: We found that with the OCT we were able to detect and analyze a wide range of mouse retinal pathology, and the results compared well to histological sections. In addition, the technique allows to follow individual animals over time, thereby reducing the numbers of study animals needed, and to assess dynamic processes like edema formation. The results clearly indicate that OCT has the potential to revolutionize the future design of respective short- and long-term studies, as well as the preclinical

  5. Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

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    Friedman, James S. ; Chang, Bo ; Kannabiran, Chitra ; Chakarova, Christina ; Singh, Hardeep P. ; Jalali, Subhadra ; Hawes, Norman L. ; Branham, Kari ; Othman, Mohammad ; Filippova, Elena ; Thompson, Debra A. ; Webster, Andrew R. ; Andréasson, Sten ; Jacobson, Samuel G. ; Bhattacharya, Shomi S. ; Heckenlively, John R. ; Swaroop, Anand 

    2006-01-01

    The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration. Using the positional candidate approach, we have identified a C→T substitution in a novel gene, Rd3, that encodes an evolutionarily conserved protein of 195 amino acids. The rd3 mutation results in a predicted stop codon after residue 106. This change is observed in four rd3 lines derived from the original collected mice but not in the nine wild-type mouse strains that were examined. Rd3 is preferentially expressed in the retina and exhibits increasing expression through early postnatal development. In transiently transfected COS-1 cells, the RD3-fusion protein shows subnuclear localization adjacent to promyelocytic leukemia-gene-product bodies. The truncated mutant RD3 protein is detectable in COS-1 cells but appears to get degraded rapidly. To explore potential association of the human RD3 gene at chromosome 1q32 with retinopathies, we performed a mutation screen of 881 probands from North America, India, and Europe. In addition to several alterations of uncertain significance, we identified a homozygous alteration in the invariant G nucleotide of the RD3 exon 2 donor splice site in two siblings with Leber congenital amaurosis. This mutation is predicted to result in premature truncation of the RD3 protein, segregates with the disease, and is not detected in 121 ethnically matched control individuals. We suggest that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing. PMID:17186464

  6. [Surgical management of paraclinoid aneurysms].

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    Magallón-Barajas, Eduardo; Abdo-Toro, Miguel; Flores-Robles, Claudia

    2016-01-01

    Introducción: los aneurismas paraclinoideos se originan en los segmentos clinoideo C5 y oftálmico C6 de la arteria carótida interna. Su frecuencia aproximada es del 5 al 11 %. Para su manejo microquirúrgico se requiere de un conocimiento anatómico de la región y del aneurisma. El objetivo es mostrar el manejo neuroquirúrgico de los aneurismas paraclinoideos. Métodos: se hizo un estudio retrospectivo en un servicio de neurocirugía, de enero de 2009 a enero de 2015. Se incluyeron 66 pacientes con aneurisma paraclinoideo. Se obtuvieron las características clínicas, la evolución, las complicaciones y los resultados de los pacientes al revisar los expedientes clínicos y radiológicos. Resultados: 61 pacientes (92.4 %) pertenecieron al sexo femenino; a 65 se les realizó clipaje neuroquirúrgico y a uno se le realizó bypass cerebral con exclusión del aneurisma. Tuvieron ruptura del aneurisma con hemorragia subaracnoidea 46 pacientes. Por su localización 35 aneurismas paraclinoideos (53 %) fueron superiores, 20 mediales (30.3 %) y cuatro inferiores (6 %). Tuvieron aneurismas pequeños 33 pacientes (50 %), 23 grandes (34.8 %) y 10 gigantes (15.5 %). Presentaron buenos resultados 51 pacientes después del manejo quirúrgico, dado que sacaron calificaciones de 4 y 5 según el Glasgow Outcome Score (GOS). La amaurosis fue la complicación funcional más seria atribuible a la cirugía (tres pacientes). Conclusión: la microcirugía sigue siendo el tratamiento para estos aneurismas debido a su capacidad de excluirlos totalmente, además de que es el mejor método para descomprimir el nervio óptico.

  7. Lentiviral expression of retinal guanylate cyclase-1 (RetGC1 restores vision in an avian model of childhood blindness.

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    Melissa L Williams

    2006-06-01

    Full Text Available BACKGROUND: Leber congenital amaurosis (LCA is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children. Mutations in the GUCY2D gene that encodes retinal guanylate cyclase-1 (retGC1 were the first to be linked to this disease group (LCA type 1 [LCA1] and account for 10%-20% of LCA cases. These mutations disrupt synthesis of cGMP in photoreceptor cells, a key second messenger required for function of these cells. The GUCY1*B chicken, which carries a null mutation in the retGC1 gene, is blind at hatching and serves as an animal model for the study of LCA1 pathology and potential treatments in humans. METHODS AND FINDINGS: A lentivirus-based gene transfer vector carrying the GUCY2D gene was developed and injected into early-stage GUCY1*B embryos to determine if photoreceptor function and sight could be restored to these animals. Like human LCA1, the avian disease shows early-onset blindness, but there is a window of opportunity for intervention. In both diseases there is a period of photoreceptor cell dysfunction that precedes retinal degeneration. Of seven treated animals, six exhibited sight as evidenced by robust optokinetic and volitional visual behaviors. Electroretinographic responses, absent in untreated animals, were partially restored in treated animals. Morphological analyses indicated there was slowing of the retinal degeneration. CONCLUSIONS: Blindness associated with loss of function of retGC1 in the GUCY1*B avian model of LCA1 can be reversed using viral vector-mediated gene transfer. Furthermore, this reversal can be achieved by restoring function to a relatively low percentage of retinal photoreceptors. These results represent a first step toward development of gene therapies for one of the more common forms of childhood blindness.

  8. Retinite por citomegalovirus (CMV após terapia imunossupressora para vasculite leucocitoclástica Cytomegalovirus (CMV retinitis after immunossupressive therapy for leukocytoclastic vasculitis

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    Carlos Ewerton Maia Rodrigues

    2009-02-01

    Full Text Available A retinite por citomegalovírus (CMV é uma doença rara que acomete principalmente pacientes com a síndrome da imunodeficiência adquirida (AIDS. No entanto, outros pacientes imunossuprimidos, como os transplantados, os que estão em uso de quimioterápicos, pacientes com lúpus eritematoso sistêmico (LES ou em tratamento com drogas imunossupressoras também podem ser acometidos. O quadro clínico caracteriza-se por visão turva, diminuição da acuidade ou alterações de campo visual, geralmente unilateral, podendo ocorrer deslocamento de retina. A perda visual é progressiva, evolui em ritmo variável até a completa amaurose do olho acometido. O presente relato de caso descreve um paciente com vasculite leucocitoclástica grave submetido à terapia com corticoide em dose imunossupressora que evoluiu com glaucoma, panuveíte por CMV, perda da acuidade visual e infecção bacteriana secundária.Cytomegalovirus (CMV retinitis is a rare disease which mainly affects patients with acquired immunodeficiency syndrome (AIDS. Nevertheless, other immunosuppressed patients, such as the organ transplant recipients, the ones using chemotherapy, patients with systemic lupus erythematosus (SLE or in treatment with immunosuppressive drugs can also be attacked. The clinical characteristics are blurred vision, decrease of the visual acuity or visual field alterations, generally unilateral, with the possibility of retinal detachment. The visual loss is progressive, evolving in a variable rate until complete amaurosis of the attacked eye. The present case report describes a patient with severe leukocytoclastic vasculitis, submitted to corticosteroid therapy in immunosuppressive doses that evolved with glaucoma, panuveitis by CMV, loss of visual acuity and secondary bacterial infection.

  9. Classificação diagnóstica dos portadores de doenças degenerativas de retina, integrantes dos grupos Retina São Paulo e Retina Vale do Paraíba Diagnostic classification of retinal degenerative diseases São Paulo and Vale Retina groups

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    Nichard Unonius

    2003-08-01

    ,5% eram casos isolados. CONCLUSÃO: Destaca-se assim a importância desta classificação como a primeira referência nacional dos padrões de hereditariedade das distrofias retinianas do país. Este é o primeiro passo para se proceder em seguida a classificação genético-molecular baseada no seqüenciamento de cada gene responsável por cada um dos padrões de herança. A freqüência de cada tipo específico é semelhante à encontrada em outros trabalhos epidemiológicos de outros países.PURPOSE: To organize a regional data bank of all individuals that have retinal degenerative diseases, with the aim to classify each patient according to the type of distrophy and pattern of inheritance. METHODS: During the meeting of the São Paulo Retina Group on May 5th, 2001, two hundred and forty-three persons were registered, part of whom provided information concerning ocular, personal and family history and family tree. Ninety-three patients were asked about age, origin, type of dystrophy, family history and family tree information, type of inheritance, other systemic abnormalities and complementary examination. They were classified according to the diagnosis and pattern of inhe-ritance. RESULTS: The distrophies found in the registered two hundred and forty-three patients, were: retinitis pigmentosa, Stargardt disease, Usher syndrome, Leber congenital amaurosis and choroideremia. Of the ninety-three patients examined on the same day, sixty-two had retinitis pigmentosa, thirteen had Stargardt disease, thirteen had Usher syndrome, three had Leber congenital amaurosis and two had choroideremia. The inheritance pattern of the patients with retinitis pigmentosa was autosomal dominant in 4 cases (7%, autosomal recessive in twenty cases (32%, X-linked recessive in 7 cases (11%. Twenty-nine cases were isolated (47% and two had an indeterminate pattern of inheritance (3%. Of the Stargardt disease patients, three (23% were autosomal recessive and ten (77% were isolated cases. Of the

  10. The soil seed bank characteristics in cropland under different conservation tillage and fertilization regimes in Loess Hill and Gully Region%陕北黄土丘陵沟壑区水土保持耕作及施肥下农田土壤种子库特征

    Institute of Scientific and Technical Information of China (English)

    黄茂林; 梁银丽; 周茂娟; 韦泽秀; 吴燕

    2009-01-01

    To better understand the mechanism of weed occurrence and suppression effect of crops on weeds, we conducted a 4-year field experiment in 4 crops under different tillage and fertilization regimes in Ansai, Shaanxi, China. The species composition, seed density, diversity and the similarity were measured in soil seed bank of soybean (Glycine max), corn (Zea mays), Red Bean (Semen Phaseoli ) and potato (Solanum tuberosum). The tillage and fertilization treatments in each crop included till-chemical fertilizer (CF), till-organic manure (CM), till no fertilizer (CN), no-till chemical fertilizer (NF), no-till-organic manure (NM), and no-till-no fertilizer (NN). The results showed that: (1) There were 12 weed species in 1965 seedlings from 24 soil samples in 4 crops. These species belonged to 7 families and 12 genuses and 94% of them were annual weeds. Bangtou grass (fugax nees ex steud), amaranth (Acalypha australis), large crabgrass (Digitaria sanguinalis) and Poa(Poa sphondylodes)were the dominant species and accounted for 87%;(2) In 0-20cm soil of different treatments, weed density ranged from (282.9 ± 63) to (7482.5 ±1078.3) seeds · m-2. There were significant differences (P potato plot > soybean plot > corn plot among 4 crops, tillage plot > no-tillage plot between 2 tillage treatments, and organic fertilizer plot > Fertilizer plot > no fertilizer plot among fertilization treatments;(3) Soil seed bank had the highest weed density in NM Red Bean and the lowest density in NN corn. The rich index was the highest (2.30) in CF soybean and the lowest (0.29) in NN Red Bean. The diversity index was the highest in NN soybean (5.56) and the lowest in CF Red bean (0.45). The ecological advantage of NF corn was the highest (1.35) and that of CF soybean was the lowest (0.17). Among the fertilization treatments, the similar coefficient of soil seed bank ranged from 0 to 0.63 in tilled system and from 0.67 to 0.92 in no-till system. As a result, corn and soybean were optimal

  11. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

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    Isabelle Perrault

    Full Text Available Leber congenital amaurosis (LCA is the earliest and most severe retinal degeneration (RD, and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosis will require a specific care of patients. Nineteen LCA genes are currently identified and three of them account for both non-syndromic and syndromic forms of the disease. RD3 (LCA12 was implicated as a LCA gene based on the identification of homozygous truncating mutations in two LCA families despite the screening of large cohorts of patients. Here we provide a comprehensive survey of RD3 mutations and of their clinical expression through the screening of a cohort of 852 patients originating worldwide affected with LCA or early-onset and severe RD. We identified three RD3 mutations in seven unrelated consanguineous LCA families - i.e., a 2 bp deletion and two nonsense mutations - predicted to cause complete loss of function. Five families originating from the Southern Shores of the Mediterranean segregated a similar mutation (c.112C>T, p.R38* suggesting that this change may have resulted from an ancient founder effect. Considering the low frequency of RD3 carriers, the recurrence risk for LCA in non-consanguineous unions is negligible for both heterozygote and homozygote RD3 individuals. The LCA12 phenotype in our patients is highly similar to those of patients with mutant photoreceptor-specific guanylate cyclase (GUCY2D/LCA1. This observation is consistent with the report of the role of RD3 in trafficking of GUCYs and gives further support to a common mechanism of photoreceptor degeneration in LCA12 and LCA1, i.e., inability to increase cytoplasmic cGMP concentration in outer segments and thus to recover the dark-state. Similar to LCA1, LCA12 patients have no extraocular symptoms despite complete inactivation of both RD3 alleles, supporting the view that extraocular investigations in LCA infants

  12. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

    Science.gov (United States)

    Perrault, Isabelle; Estrada-Cuzcano, Alejandro; Lopez, Irma; Kohl, Susanne; Li, Shiqiang; Testa, Francesco; Zekveld-Vroon, Renate; Wang, Xia; Pomares, Esther; Andorf, Jean; Aboussair, Nisrine; Banfi, Sandro; Delphin, Nathalie; den Hollander, Anneke I; Edelson, Catherine; Florijn, Ralph; Jean-Pierre, Marc; Leowski, Corinne; Megarbane, Andre; Villanueva, Cristina; Flores, Blanca; Munnich, Arnold; Ren, Huanan; Zobor, Ditta; Bergen, Arthur; Chen, Rui; Cremers, Frans P M; Gonzalez-Duarte, Roser; Koenekoop, Robert K; Simonelli, Francesca; Stone, Edwin; Wissinger, Bernd; Zhang, Qingjiong; Kaplan, Josseline; Rozet, Jean-Michel

    2013-01-01

    Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosis will require a specific care of patients. Nineteen LCA genes are currently identified and three of them account for both non-syndromic and syndromic forms of the disease. RD3 (LCA12) was implicated as a LCA gene based on the identification of homozygous truncating mutations in two LCA families despite the screening of large cohorts of patients. Here we provide a comprehensive survey of RD3 mutations and of their clinical expression through the screening of a cohort of 852 patients originating worldwide affected with LCA or early-onset and severe RD. We identified three RD3 mutations in seven unrelated consanguineous LCA families - i.e., a 2 bp deletion and two nonsense mutations - predicted to cause complete loss of function. Five families originating from the Southern Shores of the Mediterranean segregated a similar mutation (c.112C>T, p.R38*) suggesting that this change may have resulted from an ancient founder effect. Considering the low frequency of RD3 carriers, the recurrence risk for LCA in non-consanguineous unions is negligible for both heterozygote and homozygote RD3 individuals. The LCA12 phenotype in our patients is highly similar to those of patients with mutant photoreceptor-specific guanylate cyclase (GUCY2D/LCA1). This observation is consistent with the report of the role of RD3 in trafficking of GUCYs and gives further support to a common mechanism of photoreceptor degeneration in LCA12 and LCA1, i.e., inability to increase cytoplasmic cGMP concentration in outer segments and thus to recover the dark-state. Similar to LCA1, LCA12 patients have no extraocular symptoms despite complete inactivation of both RD3 alleles, supporting the view that extraocular investigations in LCA infants with RD3 mutations

  13. Bicarbonate and Ca2+ sensing modulators activate photoreceptor ROS-GC1 synergistically

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    Teresa eDuda

    2016-01-01

    Full Text Available Photoreceptor ROS-GC1, a prototype subfamily member of the membrane guanylate cyclase family, is a central component of phototransduction. It is a single transmembrane-spanning protein, composed of modular blocks. In rods, guanylate cyclase activating proteins (GCAPs 1 and 2 bind to its juxtamembrane domain and the C-terminal extension, respectively, to accelerate cyclic GMP synthesis when Ca2+ levels are low. In cones, the additional expression of the Ca2+-dependent guanylate cyclase activating protein (CD-GCAP S100B which binds to its C-terminal extension, supports acceleration of cyclic GMP synthesis at high Ca2+ levels. Independent of Ca2+, ROS-GC1 activity is also stimulated directly by bicarbonate binding to the core catalytic domain. Several enticing molecular features of this transduction system are revealed in the present study. In combination, bicarbonate and Ca2+-dependent modulators raised maximal ROS-GC activity to levels that exceeded the sum of their individual effects. The F514S mutation in ROS-GC1 that causes blindness in type 1 Leber’s congenital amaurosis severely reduced basal ROS-GC1 activity. GCAP2 and S100B Ca2+ signaling modes remained functional, while the GCAP1-modulated mode was diminished. Bicarbonate nearly restored basal activity as well as GCAP2- and S100B-stimulated activities of the F514S mutant to normal levels but could not resurrect GCAP1 stimulation. We conclude that GCAP1 and GCAP2 forge distinct pathways through domain-specific modules of ROS-GC1 whereas the S100B and GCAP2 pathways may overlap. The synergistic interlinking of bicarbonate to GCAPs- and S100B-modulated pathways intensifies and tunes the dependence of cyclic GMP synthesis on intracellular Ca2+. Our study challenges the recently proposed GCAP1 and GCAP2 overlapping phototransduction model (Peshenko, I.V., Olshevskaya, and Dizhoor, A. M. (2015 J Biol. Chem 290, 6913-6924.

  14. Recombinant adeno-associated virus-mediated gene transfer for the potential therapy of adenosine deaminase-deficient severe combined immune deficiency.

    Science.gov (United States)

    Silver, Jared N; Elder, Melissa; Conlon, Thomas; Cruz, Pedro; Wright, Amy J; Srivastava, Arun; Flotte, Terence R

    2011-08-01

    ). Currently, rAAV vectors are being utilized in phase I/II clinical trials for cystic fibrosis, α-1 antitrypsin deficiency, Canavan's disease, Parkinson's disease, hemophilia, limb-girdle muscular dystrophy, arthritis, Batten's disease, and Leber's congenital amaurosis (Flotte et al., 1996 , 2004 ; Kay et al., 2000 ; Aitken et al., 2001 ; Wagner et al., 2002 ; Manno et al., 2003 ; Snyder and Francis, 2005 ; Maguire et al., 2008 ; Cideciyan et al., 2009 ). In this study, we present preclinical data to support the viability of an rAAV-based gene transfer strategy for cure of ADA-SCID. We report efficient transduction of a variety of postmitotic target tissues in vivo, subsequent human ADA (hADA) expression, and enhanced hADA secretion in tissues and blood, with increasing peripheral lymphocyte populations over time. PMID:21142972

  15. [Anorexia with sinus bradycardia: a case report].

    Science.gov (United States)

    Wang, Fang-fang; Xu, Ling; Chen, Bao-xia; Cui, Ming; Zhang, Yuan

    2016-02-18

    As anorexia patients always go to the psychiatric clinic, little is concerned about the occurrence of sinus bradycardia in these patients for cardiologists and psychiatrists. The aim of this paper is to discuss the relationship between anorexia and sinus bradycardia, and the feature analysis, differential diagnosis and therapeutic principles of this type of sinus bradycardia. We report a case of sinus bradycardia in an anorexia patient with the clinical manifestations, laboratory exams, auxiliary exams, therapeutic methods, and her prognosis, who was admitted to Peking University Third Hospital recently. The patient was a 19-year-old female, who had the manifestation of anorexia. She lost obvious weight in a short time (about 15 kg in 6 months), and her body mass index was 14.8 kg/m(2). The patient felt apparent palpitation, chest depression and short breath, without dizziness, amaurosis or unconsciousness. Vitals on presentation were notable for hypotension, and bradycardia. The initial exam was significant for emaciation, but without lethargy or lower extremity edema. The electrocardiogram showed sinus bradycardia with her heart rate being 32 beats per minute. The laboratory work -up revealed her normal blood routine, electrolytes and liver function. But in her thyroid function test, the free thyroid (FT) hormones 3 was 0.91 ng/L (2.3-4.2 ng/L),and FT4 was 8.2 ng/L (8.9-18.0 ng/L), which were all lower; yet the thyroid stimulating hormone (TSH) was normal 1.48 IU/mL (0.55-4.78 IU/mL). Ultrasound revealed her normal thyroid. Anorexia is an eating disorder characterized by extremely low body weight, fear of gaining weight or distorted perception of body image, and amenorrhea. Anorexia patients who lose weight apparently in short time enhance the excitability of the parasympathetic nerve, and inhibit the sympathetic nerve which lead to the appearance of sinus bradycardia, and functional abnormalities of multiple systems such as hypothyroidism. But this kind of sinus

  16. RETINOBASE: a web database, data mining and analysis platform for gene expression data on retina

    Directory of Open Access Journals (Sweden)

    Léveillard Thierry

    2008-05-01

    Full Text Available Abstract Background The retina is a multi-layered sensory tissue that lines the back of the eye and acts at the interface of input light and visual perception. Its main function is to capture photons and convert them into electrical impulses that travel along the optic nerve to the brain where they are turned into images. It consists of neurons, nourishing blood vessels and different cell types, of which neural cells predominate. Defects in any of these cells can lead to a variety of retinal diseases, including age-related macular degeneration, retinitis pigmentosa, Leber congenital amaurosis and glaucoma. Recent progress in genomics and microarray technology provides extensive opportunities to examine alterations in retinal gene expression profiles during development and diseases. However, there is no specific database that deals with retinal gene expression profiling. In this context we have built RETINOBASE, a dedicated microarray database for retina. Description RETINOBASE is a microarray relational database, analysis and visualization system that allows simple yet powerful queries to retrieve information about gene expression in retina. It provides access to gene expression meta-data and offers significant insights into gene networks in retina, resulting in better hypothesis framing for biological problems that can subsequently be tested in the laboratory. Public and proprietary data are automatically analyzed with 3 distinct methods, RMA, dChip and MAS5, then clustered using 2 different K-means and 1 mixture models method. Thus, RETINOBASE provides a framework to compare these methods and to optimize the retinal data analysis. RETINOBASE has three different modules, "Gene Information", "Raw Data System Analysis" and "Fold change system Analysis" that are interconnected in a relational schema, allowing efficient retrieval and cross comparison of data. Currently, RETINOBASE contains datasets from 28 different microarray experiments performed

  17. [Anorexia with sinus bradycardia: a case report].

    Science.gov (United States)

    Wang, Fang-fang; Xu, Ling; Chen, Bao-xia; Cui, Ming; Zhang, Yuan

    2016-02-18

    As anorexia patients always go to the psychiatric clinic, little is concerned about the occurrence of sinus bradycardia in these patients for cardiologists and psychiatrists. The aim of this paper is to discuss the relationship between anorexia and sinus bradycardia, and the feature analysis, differential diagnosis and therapeutic principles of this type of sinus bradycardia. We report a case of sinus bradycardia in an anorexia patient with the clinical manifestations, laboratory exams, auxiliary exams, therapeutic methods, and her prognosis, who was admitted to Peking University Third Hospital recently. The patient was a 19-year-old female, who had the manifestation of anorexia. She lost obvious weight in a short time (about 15 kg in 6 months), and her body mass index was 14.8 kg/m(2). The patient felt apparent palpitation, chest depression and short breath, without dizziness, amaurosis or unconsciousness. Vitals on presentation were notable for hypotension, and bradycardia. The initial exam was significant for emaciation, but without lethargy or lower extremity edema. The electrocardiogram showed sinus bradycardia with her heart rate being 32 beats per minute. The laboratory work -up revealed her normal blood routine, electrolytes and liver function. But in her thyroid function test, the free thyroid (FT) hormones 3 was 0.91 ng/L (2.3-4.2 ng/L),and FT4 was 8.2 ng/L (8.9-18.0 ng/L), which were all lower; yet the thyroid stimulating hormone (TSH) was normal 1.48 IU/mL (0.55-4.78 IU/mL). Ultrasound revealed her normal thyroid. Anorexia is an eating disorder characterized by extremely low body weight, fear of gaining weight or distorted perception of body image, and amenorrhea. Anorexia patients who lose weight apparently in short time enhance the excitability of the parasympathetic nerve, and inhibit the sympathetic nerve which lead to the appearance of sinus bradycardia, and functional abnormalities of multiple systems such as hypothyroidism. But this kind of sinus

  18. [Stroke. are there any difference between patients with or without patent foramen ovale in left atrial appendage systolic function?].

    Science.gov (United States)

    Contreras, Alejandro E; Perrote, Federico; Concari, Ignacio; Brenna, Eduardo J; Lucero, Cecilia

    2012-01-01

    Introducción: El objetivo del presente trabajo fue comparar la función sistólica de la orejuela de la aurícula izquierda (OAI) en un grupo de pacientes con y sin foramen oval permeable (FOP) quienes sufrieron eventos cerebrovasculares isquémicos. Material y métodos: Entre septiembre de 2010 y octubre de 2011, 17 pacientes fueron enviados para la realización de un ecocardiograma transesofágico (ETE) por haber sufrido un accidente cerebrovascular (ACV). Se definió FOP al pasaje de al menos una burbuja a través del septum interauricular con test de burbujas. Se comparó la velocidad sistólica en la orejuela entre los pacientes con y sin FOP y con un grupo control. Resultados: Fueron 8 mujeres y 9 hombres, con una edad media de 54,1 ± 19,5 años. Todos los pacientes habían sufrido un evento cerebrovascular isquémico, el 41,2% habían tenido ACV, el 52,9% crisis isquémica transitoria y el 5,9% amaurosis fugaz. En la evaluación con ETE, el 11,8% tuvo aneurisma del septum interauricular y el 35,3% FOP. La velocidad sistólica media de la OAI fue 66,3 ± 20,3 cm/seg. No hubo diferencia en la velocidad sistólica de la OAI entre pacientes con o sin FOP (67,5 ± 11,8 cm/seg vs 65,7 ± 24,3 cm/seg respectivamente, p= 0,87). El grupo control compuesto por 8 pacientes, 5 mujeres y 3 hombres, con una edad media de 39,5 ± 18 años, tuvo una velocidad sistólica de la OAI de 77,6 ± 28,9 cm/seg, sin diferencias significativas con los pacientes isquémicos. Conclusión: No hubo diferencias en la función sistólica de la OAI entre pacientes con y sin FOP con eventos cerebrovasculares isquemicos.

  19. Neurossífilis atípica: Relato de caso Atypical neurosyphilis: case report

    Directory of Open Access Journals (Sweden)

    Fábio Leite Gastal

    1995-09-01

    Full Text Available O presente estudo é baseado na observação de um caso de neurossífilis no serviço de internação da Clínica Olivé Leite em agosto-1992. A paciente, do sexo feminino e com 31 anos de idade, foi admitida por apresentar quadro de psicose orgânica no qual predominavam sintomas de tipo deterioração cognitiva (síndrome demencial, associados a elementos paranoides (alucinações e delírios. A investigação diagnóstica evidenciou testes imunológicos positivos para sífilis no sangue e no LCR. Destaca-se este caso pelos seguintes aspectos peculiares: forma da apresentação clínica, gravidade dos sintomas (amaurose e severo déficit cognitivo, sexo, idade e por ser este o primeiro caso diagnosticado no serviço desde 1968 (data do último registro de caso de neurossífilis no seu Banco de Dados. Após penicilinoterapia e seguimento de 9 meses, a paciente apresenta algumas melhoras, caracterizadas por: diminuição da sintomatologia produtiva de tipo alucinatória e delirante, diminuição do déficit cognitivo em termos de orientação e maior produtividade nas atividades sociais e comportamentais.The present study is based on the observation of a case at the inpatient service of Clinica Olivé Leite in August 1992. A 31 years old female patient, showing cognitive deterioration and demential syndrome associated with paranoid elements (hallucination and delirium, was admitted as a case of organic psychosis. Diagnostic investigation evidenced positive tests for syphilis in serum and cerebrospinal fluid. The following peculiar aspects are emphasized in this case: severe clinical presentation, severe presentation symptoms (amaurosis and a severe cognitive deficit, sex, age, and for being the first case diagnosed in the service since 1968 (occasion in wich the last neurosyphilis case was registered in its data bank. In the following nine months, after penicillin therapy, the patient showed some improvement characterized by a reduction of

  20. Impact of set-aside management on soil mesofauna

    Science.gov (United States)

    Landi, Silvia; d'Errico, Giada; Mazza, Giuseppe; Mocali, Stefano; Bazzoffi, Paolo; Roversi, Pio Federico

    2014-05-01

    (MI) resulted significantly higher in set-aside managements than in conventional crops in Fagna and Metaponto sites. In contrast, Caorle was characterized by a significant soil degradation (prevalence of extreme colonizers) and any increase of MI values in the set-aside have been not detected. About microarthropods, the taxa richness was significantly higher in set-aside managements than conventional crops in all the sites sampled. QBS index showed the same trend, but the differences were not significant. Caorle site was characterized by a lack of balance in the relative abundance among soil microarthropods taxa. In particular, set-aside managements showed a strong prevalence of an aggressive ants Solenopsis fugax (Hymenoptera: Formicidae). In conclusion, the best results were observed in Fagna and Metaponto sites, where MI and QBS values increased under set-aside management as compared to the conventional. Further analyses will be carried out over a long period to better understand the possible correlation between the enhancement of the organic matter observed in the soils less degraded and the biological quality improvement.

  1. 温度对4种杂草种子萌发的影响%Temperature Effects on Seed Germination of Four Weeds

    Institute of Scientific and Technical Information of China (English)

    彭文君; 朱茜; 李岳; 汤东生

    2011-01-01

    Effects of the two kinds of diurnal fluctuate temperature (25 ℃/20 ℃ and 20 ℃/15 ℃) treatment on seed germinating rates, germinating energys and germinating indexes of the four weed species Polypogon Jugax Nees ex steud. , Spergula arvensis L. , Oenothera rosea L' Herit. Ex Ait. And Eupatorium adenophorum Spreng. Were studied. The results show that responses of the four weeds' seed germination to the two kinds of temperature treatment are different. High temperature is useful for germination of P. Jugax in the first 4 days,however,germination rate in low temperature is higher than that of high temperature treatment after 3 days. Germination energy of S. Avensis is lower than that of low temperature treatment in the first 3 days,wherever,germination rate unchange after 3 days under two kinds of temperature treatment, and it is 10% higher under low temperature than that of high temperature. The seed germination response of 0. Rosea to temperature is similar to that of E. Adenophorum, I. G. The seed germination rates of the two species under low temperature are quite different from that of high temperature treatment,and the germination rates of the two kinds of temperature treatment are similar gradually as the germination period of extension.%研究了20 ℃/15℃和25℃/20℃两种日波动温度对棒头草(Polypogon fugax Nees ex steud.)、大瓜草(Spergula arvensis L.)、红花月见草(Oenothera rosea L' Herit.ex Ait.)和紫茎泽兰(Eupatorium adenophorum Spreng.)种子的发芽率、发芽势和发芽指数的作用.结果表明,4种杂草种子萌发对两种波动温度的反应存在差异.前4d高温有利于棒头草种子萌发,而3d以后,种子在低温时的发芽率均高于高温处理.前3d高温促进大瓜草种子的发芽势,而4d后两种温度下种子的发芽率维持不变,且低温处理的发芽率比高温处理高10%左右.红花月见草和紫茎泽兰种子萌发对温度的反应很相似,即在种

  2. 慢性便秘伴发肛门直肠疼痛的全国多中心分层调查研究%Multi-centered stratified study of chronic constipation with anorectal pain in China

    Institute of Scientific and Technical Information of China (English)

    辛海威; 方秀才; 高峻; 刘诗; 肖英莲; 张军; 朱丽明; 王智凤; 柯美云

    2011-01-01

    Objective To investigate the prevalence of anorectal pain in chronic constipation (CO patients. Methods With multi-centered stratified questionnaires investigation,the face to face questionnaires investigation was carried out on the symptoms of constipation and intensity,frequency and duration of anorectal pain in CC patients. CC and anorectal pain was diagnosed according to Rome Ⅲ criteria. Results Total 921 CC patients were investigated,and 909 questionnaires were valid. Of those,there were 258 male cases and 651 female cases,the mean age was(48. 9±18. 7)years. About 15. 1%(137/909)CC patients reported anorectal pain in last six months;of those 26 cases(2. 9%)with chronic proctalgia(CP),111 cases(12. 2%)with proctalgia fugax(PF). The percentage of pain occurred frequently or regularly in CP and PF patients was 88. 5%(23/26)and 73. 9%(82/111)respectively. The pain of PF patients was milder than that of CP patients. The detection rate of CP was higher in tertiary hospitals than in primary cares(3. 6% vs 0. 6%,P= 0. 04). There was no significant difference of PF detection rate between different hospitals(P= 0. 09). The occurrence of pain was associated with anorectal symptoms,sleeping and psychosocial condition. Conclusions CC patients are frequently with anorectal pain and more common in female,which should cause extensive concern by physicians.If necessary,the prevalence of anorectal pain in general population as well as the mechanism of the symptom need further investigation.%目的 调查慢性便秘患者伴发肛门直肠疼痛情况.方法 采用全国多中心分层问卷调查,纳入慢性便秘患者后就便秘症状、肛门直肠疼痛程度、频率及持续时间等进行面对面问卷调查.慢性便秘与肛门直肠疼痛的判断均参考罗马Ⅲ诊断标准.结果 共凋查921例慢性便秘患者,有效问卷909份,其中男性258例、女性651例,平均年龄(48.9±18.7)岁.15.1%(137/909)的慢性便秘患者最近6个月有肛门直肠

  3. Analyses of species composition and diversity of weed seed bank of main crop fields in Jiangsu Province and its correlation with environmental factors%江苏省主要农田杂草种子库物种组成和多样性及其与环境因子的相关性分析

    Institute of Scientific and Technical Information of China (English)

    章超斌; 马波; 强胜

    2012-01-01

    采用水洗镜检法对江苏省31个农田样点(包括旱田和水田)0~15 cm土层土壤杂草种子库的种类组成和物种多样性进行了调查研究;采用典范对应法分析了杂草种子库种类与环境因子(包括淹水天数、土壤有机质含量、土壤pH、年降水量、年均温、样点经度和样点纬度)的相关性并绘制了样点和种类与环境因子的二维排序散点图.调查结果表明:在31个样点的土壤杂草种子库中共检测到杂草种子15科54种,旱田和水田各有41和45种,二者共有种类占多数但优势种有差异,通泉草[ Mazus japonicus (Thunb.) Kuntze]、异型莎草(Cyperus difformis L.)、水苋菜(Ammannia baccifera L.)、千金子[Leptochloa chinensis (L.) Nees]、棒头革(Polypogon fugax Nees ex Steud.)和牛繁缕[ Malachium aquaticum (L.) Fries]等种类为二者的共有优势种;杂草种类最多的为禾本科(Gramineae)和莎草科(Cyperaceae),分别占种类总数的22.6%和20.8%.旱田不同样点杂草种子库的优势种类变化较大,而水田杂草种子库优势种较稳定;二者优势种频度差异较大,旱田中频度高于0.30的杂草有19种,水田中频度高于0.50的杂草有20种;旱田和水田中平均重要值大于0.03的杂草各有11和9种,这些频度高的种类重要值也较大.旱田和水田土壤种子库种子密度分别为21 015和37 847 m-2,平均为31 008 m-2;旱田3层土壤中种子密度差异不显著,而水田上、中层土壤的种子密度显著高于下层.旱田以夏熟和秋熟杂草为主,而水田则以水田和夏熟杂草为主.按形态类型划分,水田及旱田中杂草种类数和密度从大到小均依次排序为阔叶草类、禾草类、莎草类,且水田中这3类杂草的种类数和种子密度均高于旱田.与旱田相比,水田杂草种子库的物种丰富度指数(S)、Shannon-Wiener 指数(H')和Simpson指数(D)较高,但Pielou均匀度指数(E)较低;旱田杂草种子库的S、H'

  4. 厌食症合并窦性心动过缓1例%Anorexia with sinus bradycardia:a case report

    Institute of Scientific and Technical Information of China (English)

    王方芳; 徐玲; 陈宝霞; 崔鸣; 张媛

    2016-01-01

    SUMMARY Asanorexiapatientsalwaysgotothepsychiatricclinic,littleisconcernedabouttheoccur-rence of sinus bradycardia in these patients for cardiologists and psychiatrists.The aim of this paper is to discuss the relationship between anorexia and sinus bradycardia,and the feature analysis,differential diagnosis and therapeutic principles of this type of sinus bradycardia.We report a case of sinus bradycar-dia in an anorexia patient with the clinical manifestations,laboratory exams,auxiliary exams,therapeutic methods,and her prognosis,who was admitted to Peking University Third Hospital recently.The patient was a 1 9-year-old female,who had the manifestation of anorexia.She lost obvious weight in a short time (about 1 5 kg in 6 months),and her body mass index was 1 4.8 kg/m2 .The patient felt apparent palpi-tation,chest depression and short breath,without dizziness,amaurosis or unconsciousness.Vitals on presentation were notable for hypotension,and bradycardia.The initial exam was significant for emacia-tion,but without lethargy or lower extremity edema.The electrocardiogram showed sinus bradycardia with her heart rate being 32 beats per minute.The laboratory work-up revealed her normal blood routine,elec-trolytes and liver function.But in her thyroid function test,the free thyroid (FT)hormones 3 was 0.91 ng/L (2.3-4.2 ng/L),and FT4 was 8.2 ng/L(8.9 -1 8.0 ng/L),which were all lower;yet the thy-roid stimulating hormone(TSH)was normal 1 .48 IU/mL(0.55 -4.78 IU/mL).Ultrasound revealed her normal thyroid.Anorexia is an eating disorder characterized by extremely low body weight,fear of gaining weight or distorted perception of body image,and amenorrhea.Anorexia patients who lose weight appa-rently in short time enhance the excitability of the parasympathetic nerve,and inhibit the sympathetic nerve which lead to the appearance of sinus bradycardia,and functional abnormalities of multiple systems such as hypothyroidism.But this kind of sinus bradycardia and hypothyroidism

  5. Delivering Transgenic DNA Exceeding the Carrying Capacity of AAV Vectors.

    Science.gov (United States)

    Hirsch, Matthew L; Wolf, Sonya J; Samulski, R J

    2016-01-01

    Gene delivery using recombinant adeno-associated virus (rAAV) has emerged to the forefront demonstrating safe and effective phenotypic correction of diverse diseases including hemophilia B and Leber's congenital amaurosis. In addition to rAAV's high efficiency of transduction and the capacity for long-term transgene expression, the safety profile of rAAV remains unsoiled in humans with no deleterious vector-related consequences observed thus far. Despite these favorable attributes, rAAV vectors have a major disadvantage preventing widespread therapeutic applications; as the AAV capsid is the smallest described to date, it cannot package "large" genomes. Currently, the packaging capacity of rAAV has yet to be definitively defined but is approximately 5 kb, which has served as a limitation for large gene transfer. There are two main approaches that have been developed to overcome this limitation, split AAV vectors, and fragment AAV (fAAV) genome reassembly (Hirsch et al., Mol Ther 18(1):6-8, 2010). Split rAAV vector applications were developed based upon the finding that rAAV genomes naturally concatemerize in the cell post-transduction and are substrates for enhanced homologous recombination (HR) (Hirsch et al., Mol Ther 18(1):6-8, 2010; Duan et al., J Virol 73(1):161-169, 1999; Duan et al., J Virol 72(11):8568-8577, 1998; Duan et al., Mol Ther 4(4):383-391, 2001; Halbert et al., Nat Biotechnol 20(7):697-701, 2002). This method involves "splitting" the large transgene into two separate vectors and upon co-transduction, intracellular large gene reconstruction via vector genome concatemerization occurs via HR or nonhomologous end joining (NHEJ). Within the split rAAV approaches there currently exist three strategies: overlapping, trans-splicing, and hybrid trans-splicing (Duan et al., Mol Ther 4(4):383-391, 2001; Halbert et al., Nat Biotechnol 20(7):697-701, 2002; Ghosh et al., Mol Ther 16(1):124-130, 2008; Ghosh et al., Mol Ther 15(4):750-755, 2007). The other major

  6. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

    Directory of Open Access Journals (Sweden)

    Geoffrey K Aguirre

    2007-06-01

    Full Text Available BACKGROUND: RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA. Somatic gene therapy delivered to the retina of blind dogs with an RPE65 mutation dramatically restores retinal physiology and has sparked international interest in human treatment trials for this incurable disease. An unanswered question is how the visual cortex responds after prolonged sensory deprivation from retinal dysfunction. We therefore studied the cortex of RPE65-mutant dogs before and after retinal gene therapy. Then, we inquired whether there is visual pathway integrity and responsivity in adult humans with LCA due to RPE65 mutations (RPE65-LCA. METHODS AND FINDINGS: RPE65-mutant dogs were studied with fMRI. Prior to therapy, retinal and subcortical responses to light were markedly diminished, and there were minimal cortical responses within the primary visual areas of the lateral gyrus (activation amplitude mean +/- standard deviation [SD] = 0.07% +/- 0.06% and volume = 1.3 +/- 0.6 cm(3. Following therapy, retinal and subcortical response restoration was accompanied by increased amplitude (0.18% +/- 0.06% and volume (8.2 +/- 0.8 cm(3 of activation within the lateral gyrus (p < 0.005 for both. Cortical recovery occurred rapidly (within a month of treatment and was persistent (as long as 2.5 y after treatment. Recovery was present even when treatment was provided as late as 1-4 y of age. Human RPE65-LCA patients (ages 18-23 y were studied with structural magnetic resonance imaging. Optic nerve diameter (3.2 +/- 0.5 mm was within the normal range (3.2 +/- 0.3 mm, and occipital cortical white matter density as judged by voxel-based morphometry was slightly but significantly altered (1.3 SD below control average, p = 0.005. Functional magnetic resonance imaging in human RPE65-LCA patients revealed cortical responses with a markedly diminished activation volume (8

  7. Current situation and the future of retinal gene therapy%视网膜疾病基因治疗的现状与未来

    Institute of Scientific and Technical Information of China (English)

    庞继景

    2014-01-01

    Following the development of technologies in molecular biology,more and more mutant genes that cause retinal degenerative diseases have been found.Meanwhile,many naturally occurring or genetically engineered animal models have showed similar gene mutations and phenotypes as the human inherited retinal diseases,which have led to the development of a variety of therapeutic strategies for those traditionally incurable inherited diseases.Following Leber congenital amaurosis 2 (LCA2) gene therapy clinical trial,more gene therapy clinical trials including retinitis pigmentosa (RP) with MERTK mutation,Stargardt disease with ABCA4 mutation,Usher syndrome with MYO7A mutation and age-related macular degeneration (AMD) are ongoing.Adeno associated virtal (AAV) vectormediated gene replacement therapy that covers the whole retina showed great potential to cure early stage of those patients;while,gene replacement therapy combined with other approaches like treatment with anti-apoptotic agent and/or neurotropic factor,which can extend the therapeutic window in middle to late stages of those patients,is a potentially promising strategy for improving photoreceptor function and significantly slowing the process of retinal degeneration.%近年来人类基因组学研究的不断深入,基因突变检测的方法日新月异,尤其是基因芯片和全外显子扫描技术的出现,使突变基因检测变得更加简单和高效,越来越多的导致视网膜疾病的突变基因被确认.一些自然动物模型和基因敲除动物模型广泛应用于实验研究,促进了视网膜变性类疾病治疗研究的进展.此外,由于基因转染载体技术的进步,视网膜变性疾病的基因治疗研究也取得了长足的进步.随着2008年开始的Leber先天性黑矇(LCA2)临床试验的顺利开展,为更多的隐性遗传性视网膜变性类疾病的基因治疗奠定了良好的基础,如应用基因替代疗法治疗MERTK基因突变引起的视网膜色素变

  8. Mechanical injuries of the eyeball: Frequency, structure, and possibility of the prevention

    Directory of Open Access Journals (Sweden)

    Jovanović Miloš

    2006-01-01

    , etc. According to months in a year and days in a week, the injuries were almost evenly distributed. Considering the period of a day, even 77.4% of the injuries occurred during daytime, from 10 a.m. to 10 p.m. The highest percentage - 43.5% - of the injuries occurred while working something out of working place, while 24.5% of injuries were inflicted at working places. On admission, the majority of patients - 32.9% had visual acuity L+P+, but this visual acuity ranged from amaurosis to 1.0. There were 746 (45.4% contusion injuries and 870 (53.0% penetrating injuries. The rest were the injuries of other ocular adnexa. The majority of primary wound managements were performed in the first 24 hours of the injury - 67.1%. Conclusion. It may be concluded that working population and students are most commonly injured, and that men are five times more frequently injured than women; then, a piece of wood, sharp objects and glass are the most often causes of injury; the number of contusion and penetrating injuries is equal, and that required primary surgical wound management is most often performed in the first 24 hours from the injury. Further analysis of these factors suggests that many of these injuries could have been prevented, and consequently long-term treatment and treatment costs could have been evaded. Most important is that permanent disability due to visual impairment or even blindness of the injured eye could have been avoided.

  9. Delivering Transgenic DNA Exceeding the Carrying Capacity of AAV Vectors

    Science.gov (United States)

    Hirsch, Matthew L.; Wolf, Sonya J.; Samulski, R.J.

    2016-01-01

    Gene delivery using recombinant adeno-associated virus (rAAV) has emerged to the forefront demonstrating safe and effective phenotypic correction of diverse diseases including hemophilia B and Leber’s congenital amaurosis. In addition to rAAV’s high efficiency of transduction and the capacity for long-term transgene expression, the safety profile of rAAV remains unsoiled in humans with no deleterious vector-related consequences observed thus far. Despite these favorable attributes, rAAV vectors have a major disadvantage preventing widespread therapeutic applications; as the AAV capsid is the smallest described to date, it cannot package “large” genomes. Currently, the packaging capacity of rAAV has yet to be definitively defined but is approximately 5 kb, which has served as a limitation for large gene transfer. There are two main approaches that have been developed to overcome this limitation, split AAV vectors, and fragment AAV (fAAV) genome reassembly (Hirsch et al., Mol Ther 18(1):6–8, 2010). Split rAAV vector applications were developed based upon the finding that rAAV genomes naturally concatemerize in the cell post-transduction and are substrates for enhanced homologous recombination (HR) (Hirsch et al., Mol Ther 18(1):6–8, 2010; Duan et al., J Virol 73(1):161–169, 1999; Duan et al., J Virol 72(11):8568–8577, 1998; Duan et al., Mol Ther 4(4):383–391, 2001; Halbert et al., Nat Biotechnol 20(7):697–701, 2002). This method involves “splitting” the large transgene into two separate vectors and upon co-transduction, intracellular large gene reconstruction via vector genome concatemerization occurs via HR or nonhomologous end joining (NHEJ). Within the split rAAV approaches there currently exist three strategies: overlapping, trans-splicing, and hybrid trans-splicing (Duan et al., Mol Ther 4(4):383–391, 2001; Halbert et al., Nat Biotechnol 20(7):697–701, 2002; Ghosh et al., Mol Ther 16(1):124–130, 2008; Ghosh et al., Mol Ther 15

  10. Prevalence and prognostic value of early repolarization pattern in Chinese adolescent%中国部分区域青少年早复极的检出率及随访

    Institute of Scientific and Technical Information of China (English)

    刘文玲; 杨杰; 马占锋; 尹广利; 周玉安; 周广华; 李蕾; 张红; 张岚; 赵杰强; 朱天刚; 赵博

    2012-01-01

    Objective To understand the prevalence and prognosis of early repolarization ( ER) in Chinese adolescent. Method Students from some high schools and universities in Beijing were screened by ECG in 2008 -2010. Medical history, family history, and physical examination, including echocardiography, Holter monitoring were recorded if necessary. Students with ER had follow-up. Diagnostic criteria for ER: J-point elevation at least 0. 1 mV and QRS notching or slurring more than 2 consecutive leads in 12-lead electrocardiography, ST segment elevation concave upward, high peak T-wave. ECG diagnosis were made by two experienced cardiologists. Results 13 405 valid ECG and related information were obtained, age 15-22 years old, male to female ratio 1. 01: 1, including 34 provinces and autonomous regions and special administrative regions from China, Covering Han, Manzu, Mongolian, Miao, Tibetan, Korean, and Dong, mainly Han. Total of 135 cases of ER were found, male 111 , female 24. The prevalence was 1%. They were mostly in inferior (79 cases) , next was both in inferior and lateral(29 cases) . The forms were mainly notching or slurring. Follow-up of 12-36 months, no one had sudden cardiac death and other cardiovascular events, only 1 case had amaurosis, but no arrhythmias were recorded. Conclusion The prevalence of ER in Chinese adolescent is 1% based on this population, mainly in inferior and lateral leads; ER is generally benign. [ Chinese Journal of Cardiac Pacing and Electrophysiology ,2012,26 (6):498-500]%目的 了解中国青少年早复极(ER)的发生率及预后.方法 2008年9月至2010年10月,对北京市部分中学高一年级和职业中学新生、大学新人学的本科生进行筛查,包括询问病史及家族史,体格检查,心电图检查,必要时做超声心动图、动态心电图.并进行随访.ER诊断标准:心电图连续2个导联以上J点抬高至少0.1 mV,呈顿挫或切迹样,ST段呈凹面向上抬高,T波高尖.心电图由2名心

  11. Occipitotemporal epilepsies: clinical characteristics and the role of diagnostic modalities%颞-枕叶交界区癫痫的致痫区定位研究

    Institute of Scientific and Technical Information of China (English)

    吴英; 陈述花; 张玮; 刘兴洲; 栾国明

    2013-01-01

    .Excellent results were shown in three patients while two patients showed poor results.The other two remaining patients from the 7 cases were diagnosed with occipitoemporal epilepsy and did not undergo surgical treatment because of financial reasons.None of the patients experienced elementary visual hallucinations and ictal blurred vision or amaurosis during the monitored time.However,rapid eye blinking,as an initial seizure manifestation with or without aura,was observed in six patients.Scalp interictal and ictal discharges are frequently abnormal.Diffused or bilateral distribution of interictal spikes was observed in 4 out of the 7 patients and unilateral in 2 of the patients.Scalp interictal discharges is located in the right temporal areas in 1 out of the 7 patients.In 5 of the patients,the distribution of seizures,measured with the scalp EEG,were either multilobar,the entire hemisphere,or were generalized at onset.In the other 2 patients,seizures were located in the posterior areas in one patient and in the right temporal areas in the other patient.Conclusions Scalp interictal and ictal EEG changes were unreliable markers of Occipitotemporals' origin of seizure activity.Initial symptoms and signs and Head MRIs may be crucial clues in indicating the epileptoginic zone of occipitotemporal epilepsy.