Závěrečná zpráva o řešení grantu Interní grantové agentury MZ ČR
Přeruš. str. : il., tab. ; 30 cm
The presentation of chronic angle-closure glaucoma (CACG) ís similar to that of open-angle glaucoma and is often associated with it. Successful treatment depends on eliminating pupillary block by laser iridotomy or surgical peripheral iridectomy. U patients with suspection of CACG provide minutios examination with specific tests and measurements and state the value of different findings for the confirmation or elimination of the diagnosis. In patients with confirmed CACG perform laser iridotomy (LI) orsurgical iridectomy. Identify subgroups of patients, which will be treated by LI alone or require additional medical treatment. In insufficient compensation of intraocular pressure perform laser iridoplasty (gonioplasty) or surgery.
Chronický glaukom s uzávěrem úhlu (CGUÚ) svým průběhem připomíná chronický prostý glaukom. Přitom spočívá úspěšná léčba na jiných základech, tj. překonání funkčního bloku mezi duhovkou a čočkou laserovou iridotimií či chirurgickou iridektomií. U osob s podezřením na CGUÚ provést podrobné vyšetření aněkteré specifické testy a měření a zjisit význam jednotlivých nálezů pro potvrzení nebo vyloučení diagnózy. U osob s potvrzeným CGUÚ provést laserovou iridektomii (LI) nebo chirurigickou periferní iridektomii. Zjistit u kterých nemocných ténto výkon stačí a u kterých je nutná doplňující farmakoterapie. Zjištění nejvhodnější farmakoterapie. U nedostatečné kompenzace nitroočního tlaku provést laserovou iridoplastiku (gonioplastiku) nebo chirurgickou léčbu. Srovnání výsledků.
- MeSH
- chronická nemoc MeSH
- glaukom s uzavřeným úhlem diagnóza terapie MeSH
- iridektomie metody využití MeSH
- nitrooční tlak účinky léků MeSH
- Konspekt
- Ortopedie. Chirurgie. Oftalmologie
- NLK Obory
- oftalmologie
- NLK Publikační typ
- závěrečné zprávy o řešení grantu IGA MZ ČR
We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the pathogenesis of this disorder were screened by DNA sequencing. Four novel pathogenic mutations were identified in four families; two deletions, one nonsense, and one duplication within exon 7 in the ZEB1 gene located at 10p11.2. We also genotyped the Czech patients to test for a founder haplotype and lack of disease segregation with the 20p11.2 locus we previously described. Although a systematic clinical examination was not performed, our investigation does not support an association between ZEB1 changes and self reported non-ocular anomalies. In the remaining six families no disease causing mutations were identified thereby indicating that as yet unidentified gene(s) are likely to be responsible for PPCD.
- MeSH
- dědičné dystrofie rohovky genetika MeSH
- dospělí MeSH
- homeodoménové proteiny genetika MeSH
- kolagen typ VIII genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- oční proteiny genetika MeSH
- rodokmen MeSH
- senioři MeSH
- transkripční faktor Zeb1 MeSH
- transkripční faktory genetika MeSH
- vzácné nemoci genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Spojené království MeSH
Posterior polymorphous corneal dystrophy (PPCD) is a hereditary bilateral disorder affecting Descemet's membrane and the endothelium. The aim of the present study was to determine the spectrum of cytokeratin (CK) expression in cells on the posterior surface of the cornea in PPCD patients. Ten corneal buttons and one specimen of the trabecular meshwork (TM) from PPCD patients who underwent graft or glaucoma surgery were used, as well as six corneal buttons and two TM specimens obtained from healthy donors as controls. Cryosections were fixed and indirect immunofluorescent staining was performed using antibodies directed against a wide spectrum of cytokeratins (CKs). The number of positive cells and the intensity of the staining were assessed using fluorescent microscopy. All 10 PPCD corneal specimens had areas of endothelium displaying typical endothelial morphology as well as areas consisting of layers two to six cells thick with both flat endothelial-like cells and polygonal cells with round nuclei and a large cytoplasm. Both of these morphologically distinct cell types showed strong immunostaining for CK7, CK19, CK8 and CK18, while weaker positive signals were observed for CK1, CK3/12, CK4, CK5/6, CK10, CK10/13, CK14, CK16 and CK17. PPCD endothelium was completely negative for CK2e, CK9, CK15, and CK20. Focal positivity was detected in PPCD TM for CK4, CK7 and CK19. CK8 and CK18 were the only CKs expressed in control endothelium. PPCD and control epithelium displayed similar staining patterns. The distinct positivity for CK3/12, CK4, CK5/6, CK10/13, CK14, CK16 and CK17 was observed in aberrant PPCD endothelium for the first time. We demonstrate that the abnormal endothelium of PPCD patients expresses a mixture of CKs, with CK7 and CK19 predominating. In terms of CK composition, the aberrant PPCD endothelium shares features of both simple and squamous stratified epithelium with a proliferative capacity. The wide spectrum of CK expression is most probably not indicative of the transformation of endothelial cells to a distinct epithelial phenotype, but more likely reflects the modified differentiation of metaplastic epithelium.
- MeSH
- dědičné dystrofie rohovky metabolismus patologie MeSH
- financování organizované MeSH
- fluorescenční mikroskopie metody MeSH
- imunohistochemie metody MeSH
- keratiny typu I analýza MeSH
- keratiny typu II analýza MeSH
- keratiny analýza MeSH
- lidé středního věku MeSH
- lidé MeSH
- oční proteiny analýza MeSH
- rohovkový endotel abnormality metabolismus patologie MeSH
- trabekulární síť metabolismus MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- MeSH
- discus nervi optici patologie MeSH
- fotorefrakční keratektomie MeSH
- glaukom s otevřeným úhlem diagnóza terapie MeSH
- lidé MeSH
- testy zrakového pole využití MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH