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1.
Vet Ophthalmol ; 26(2): 101-107, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35771164

RESUMO

OBJECTIVE: To determine the prevalence of ocular disease in draft horses in the United States. ANIMALS: Draft horses of various breeds and ages. PROCEDURE: Nondilated ophthalmic examination was performed using slit lamp biomicroscopy and indirect ophthalmoscopy. Intraocular pressures were measured when possible. RESULTS: One hundred sixty-five draft horses were examined. Age range: 10 days to 33 years (mean 10.8 years, median 10 years); 87 geldings (52.7%), 71 mares (43.0%), 7 stallions (4.2%); 64 Percherons (38.8%), 51 Belgians (30.9%), 29 Clydesdales (17.6%), 15 Shires (9%), and 6 other draft breed (3.6%). Intraocular pressure: mean 24.7 mmHg OD, range 13-37 mmHg; mean 25.0 mmHg OS, range 11-37 mmHg. Vision-threatening disease was present in 9 horses (5.5%): complete cataracts 1, post-traumatic optic nerve atrophy 1, uveitis and secondary glaucoma 1, retinal detachment 1, large chorioretinal scar 3, phthisis bulbi 2. Non-vision-threatening ocular disease was present in 56 horses (33.9%) involving one or more ocular structures: eyelid trauma/notch defect 14 (8.5%), SCC-type adnexal lesions 12 (7.3%), corneal scars 16 (9.7%), keratitis 6 (3.6%), corpora nigra cyst 15 (9.1%), incipient/punctate cataract 50 (30.3%), vitreous degeneration 10 (6.1%), asteroid hyalosis 1, "bullethole" chorioretinal scars 3, RPE coloboma 1. Linear keratopathy was present in 28 horses (17%) with 2/28 having concurrent vision threatening ocular disease. CONCLUSIONS: Ocular abnormalities, in particular minor cataracts, were relatively common in this population, but not typically vision-threatening. Additionally, this survey demonstrated a greater prevalence of linear keratopathy in draft horses compared with reports in other breeds; however, it does not appear to be associated with concurrent ocular disease.


Assuntos
Catarata , Doenças da Córnea , Glaucoma , Doenças dos Cavalos , Doenças Orbitárias , Uveíte , Cavalos , Animais , Masculino , Feminino , Catarata/veterinária , Glaucoma/veterinária , Uveíte/veterinária , Pressão Intraocular , Tonometria Ocular , Doenças da Córnea/veterinária , Doenças Orbitárias/veterinária , Doenças dos Cavalos/patologia
2.
Clin Case Rep ; 10(11): e6575, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36415701

RESUMO

A 5-year-old Pomeranian was diagnosed with anterior uveitis, hyphema, and secondary glaucoma OD. Concurrent retinal hemorrhage, perivascular sheathing, and papilledema were identified OS. Work-up identified small cell lymphocytosis (>900 × 109/L), anemia, and thrombocytopenia. The patient was diagnosed with B-cell chronic lymphocytic leukemia as a cause of the ocular findings.

3.
Photochem Photobiol ; 93(3): 844-848, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28500718

RESUMO

The RPE65 protein of the retinal pigment epithelium (RPE) enables the conversion of retinyl esters to the visual pigment chromophore 11-cis retinal. Fresh 11-cis retinal is generated from retinyl esters following photoisomerization of the visual pigment chromophore to all-trans during light detection. Large amounts of esters accumulate in Rpe65-/- mice, indicating their continuous formation when 11-cis retinal generation is blocked. We hypothesized that absence of light, by limiting the conversion of esters to 11-cis retinal, would also result in the build-up of retinyl esters in the RPE of wild-type mice. We used HPLC to quantify ester levels in organic extracts of the RPE from wild-type and Rpe65-/- mice. Retinyl ester levels in Sv/129 wild-type mice that were dark adapted for various intervals over a 4-week period were similar to those in mice raised in cyclic light. In C57BL/6 mice however, which contain less Rpe65 protein, dark adaptation was accompanied by an increase in ester levels compared to cyclic light controls. Retinyl ester levels were much higher in Rpe65-/- mice compared to wild type and kept increasing with age. The results suggest that the RPE65 role in retinyl ester homeostasis extends beyond enabling the formation of 11-cis retinal.


Assuntos
Epitélio Pigmentado da Retina/metabolismo , cis-trans-Isomerases/metabolismo , Animais , Cromatografia Líquida de Alta Pressão , Ésteres/metabolismo , Camundongos Endogâmicos C57BL
4.
Am J Hum Genet ; 79(4): 614-27, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16960798

RESUMO

We mapped the genetic influences for type 1 diabetes (T1D), using 2,360 single-nucleotide polymorphism (SNP) markers in the 4.4-Mb human major histocompatibility complex (MHC) locus and the adjacent 493 kb centromeric to the MHC, initially in a survey of 363 Swedish T1D cases and controls. We confirmed prior studies showing association with T1D in the MHC, most significantly near HLA-DR/DQ. In the region centromeric to the MHC, we identified a peak of association within the inositol 1,4,5-triphosphate receptor 3 gene (ITPR3; formerly IP3R3). The most significant single SNP in this region was at the center of the ITPR3 peak of association (P=1.7 x 10(-4) for the survey study). For validation, we typed an additional 761 Swedish individuals. The P value for association computed from all 1,124 individuals was 1.30 x 10(-6) (recessive odds ratio 2.5; 95% confidence interval [CI] 1.7-3.9). The estimated population-attributable risk of 21.6% (95% CI 10.0%-31.0%) suggests that variation within ITPR3 reflects an important contribution to T1D in Sweden. Two-locus regression analysis supports an influence of ITPR3 variation on T1D that is distinct from that of any MHC class II gene.


Assuntos
Canais de Cálcio/genética , Mapeamento Cromossômico/métodos , Diabetes Mellitus Tipo 1/genética , Predisposição Genética para Doença , Receptores Citoplasmáticos e Nucleares/genética , Adolescente , Adulto , Centrômero , Criança , Pré-Escolar , Cromossomos Humanos Par 6 , Feminino , Genoma Humano , Haplótipos , Humanos , Lactente , Receptores de Inositol 1,4,5-Trifosfato , Complexo Principal de Histocompatibilidade/genética , Masculino , Polimorfismo de Nucleotídeo Único , Suécia
5.
J Biol Chem ; 277(50): 48664-76, 2002 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-12351631

RESUMO

The nuclear localization and transcriptional activity of the NF-ATc family of transcription factors, essential to many developmental, differentiation, and adaptation processes, are determined by the opposing activities of the phosphatase calcineurin, which promotes nuclear accumulation of NF-ATc, and several kinases, which promote cytoplasmic accumulation. Many reports suggest that protein kinase A (PKA) negatively modulates calcineurin-mediated NF-ATc activation. Here we show that overexpression of PKA causes phosphorylation and cytoplasmic accumulation of NF-ATc1 in direct opposition to calcineurin by phosphorylating Ser-245, Ser-269, and Ser-294 in the conserved serine-proline repeat domain, and that mutation of these serines blocks the effect of PKA. Activation of endogenous PKA is similarly able to promote phosphorylation of these sites on NF-ATc1 in two lymphoid cell lines. We further show that a complete block of NF-ATc1 nuclear localization by PKA requires a second kinase activity that can be supplied by glycogen synthase kinase-3 (GSK-3), and that mutation of either the PKA phosphorylation sites or the upstream GSK-3 sites prevents the effect of PKA. Thus, we propose that PKA functions cooperatively as a priming kinase for further phosphorylation by GSK-3 to oppose calcineurin-mediated nuclear accumulation and transcriptional activity of NF-ATc1 and that, through this mechanism, PKA may be an important modulator of many NF-ATc-dependent processes.


Assuntos
Núcleo Celular/metabolismo , Proteínas Quinases Dependentes de AMP Cíclico/metabolismo , Proteínas de Ligação a DNA/metabolismo , Quinase 3 da Glicogênio Sintase/metabolismo , Proteínas Nucleares , Fatores de Transcrição/metabolismo , Sequência de Aminoácidos , Cálcio/metabolismo , Linhagem Celular , Núcleo Celular/efeitos dos fármacos , AMP Cíclico/metabolismo , Proteínas de Ligação a DNA/química , Humanos , Ionomicina/farmacologia , Dados de Sequência Molecular , Fatores de Transcrição NFATC , Fosforilação , Serina/metabolismo , Fatores de Transcrição/química , Transcrição Gênica , Transfecção
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