5 research outputs found
Atypical regressive corneal endothelial cysts in long-term confocal follow-up
Corneal endothelium is formed of 1 layer of mitochondria-rich cubic cells whose main role is to maintain corneal transparency. Corneal endothelial disorders represent group of both inherited and noninherited and may affect proper vision. A 36-year-old male patient with suspicion of corneal endothelial dystrophy underwent visual acuity, intraocular pressure, the basic slit-lamp examination, anterior segment optical coherence tomography (AS-OCT) (Visante, Carl Zeiss Meditec, Dublin, CA), and corneal confocal microscopy in vivo (Rostock Cornea Module, Heidelberg Engineering Retina Tomograph III, Heidelberg, Germany). During the 3-year observation the patient reported symptoms mainly in the right eye. Slit-lamp examination revealed endothelial changes, much more pronounced in the right eye. Examination by the AS-OCT Visante showed hyperreflective dots within the right corneal endothelium. In order to assess endothelial cell morphology, analysis using corneal confocal microscopy in vivo was performed. Scans revealed presence of single endothelial deposits and severe cell changes of different morphology in both eyes. In the right eye, less pronounced changes of the polymorphic structure-polygonal guttas in different stages, linear and branched loss with "nuclear-like" formations and accompanying sediments. In the left eye, severe homomorphous polygonal "guttas-like" changes with "nuclear-like" formations were observed. Endothelial cysts' features were dynamically changing during follow-up time with different effects on the patient's clinical state. Corneal confocal microscopy allows accurate imaging of the endothelial cells and their detailed characteristics. Structural changes within the endothelial cells are not always proportional to visual acuity and slit-lamp image. The presented case is an example of an unusual corneal endothelial syndrome with probably nondystrophic background due to observed dynamic state with regressive tendency
Characteristic features of carcinoids diagnosed in Department of Pathomorphology SUM in Zabrze
INTRODUCTION Argentaffinoma (Carcinoid) is neuroendocrine neoplasm being able to develop in different organs of the body. The morbidity rate is taking out about 1 - 2 cases to 100 000 persons per year. MATERIAL AND METHODS The aim of this study was to describe characteristic features of carcinoids’ group diagnosed in Institute of Pathomorphology in Zabrze. This research was based on analysis of 61 histopatological slides. In preparations a type of carcinoids were being assessed. RESULTS • 61 cases were analysed (43 from women, 18 from men) • In the examination there were recognised 34 typical and 16 atypical carcinoids of bronchi and 9 invasive and 1 noninvasive carcinoid within the scope of the digestive system • The medium age of patients amounted to 52.5 ± 13.6 • In studied cases a relation is appearing between the type of the carcinoid and the location and with presence of metastases and also the location and the district blood count CONCLUSIONS Carcinoid is a rarely recognised type of neoplasm. Histologic type, location in the body and the age and sex of the patient determine the clinic features of this neoplasm.WSTĘP Rakowiak (carcinoid) jest nowotworem neuroendokrynnym rozwijającym się w różnych narządach organizmu. Zachorowalność na rakowiaka wynosi około 1-2 przypadki na 100 000 osób na rok. MATERIAŁ I METODY Celem pracy była charakterystyka grupy rakowiaków, rozpoznanych w Katedrze i Zakładzie Patomorfologii SUM w Zabrzu w latach 1993- 2008, pod względem podtypów histopatologicznych. W przygotowaniu pracy wykorzystano analizę preparatów histopatologicznych, oceniając typ rakowiaków. WYNIKI • Przeanalizowano 61 przypadków rakowiaków • Średni wiek pacjentów wynosił 52,5 ± 13,6 (43 kobiety, 18 mężczyzn) • W badaniu histopatologicznym rozpoznano 34 typowe i 16 atypowych rakowiaków oskrzeli oraz 9 inwazyjnych i 1 nieinwazyjny rakowiak w zakresie układu pokarmowego • W badanych przypadkach występuje zależność pomiędzy typem rakowiaka a lokalizacją oraz zdolnością do dawania przerzutów, jak również pomiędzy lokalizacją a parametrami morfologii krwi obwodowej WNIOSKI Rakowiak jest rzadko rozpoznawanym typem nowotworu. Typ histologiczny, lokalizacja w organizmie oraz wiek i płeć pacjenta determinują klinikę tego nowotworu
Metallothioneins, a Part of the Retinal Endogenous Protective System in Various Ocular Diseases
Metallothioneins are the metal-rich proteins that play important roles in metal homeostasis and detoxification. Moreover, these proteins protect cells against oxidative stress, inhibit proapoptotic mechanisms and enhance cell differentiation and survival. Furthermore, MTs, mainly MT-1/2 and MT-3, play a vital role in protecting the neuronal retinal cells in the eye. Expression disorders of these proteins may be responsible for the development of various age-related eye diseases, including glaucoma, age-related macular degeneration, diabetic retinopathy and retinitis pigmentosa. In this review, we focused on the literature reports suggesting that these proteins may be a key component of the endogenous protection system of the retinal neurons, and, when the expression of MTs is disrupted, this system becomes inefficient. Moreover, we described the location of different MT isoforms in ocular tissues. Then we discussed the changes in MT subtypes’ expression in the context of the common eye diseases. Finally, we highlighted the possibility of the use of MTs as biomarkers for cancer diagnosis
Rodent Models of Diabetic Retinopathy as a Useful Research Tool to Study Neurovascular Cross-Talk
Diabetes is a group of metabolic diseases leading to dysfunction of various organs, including ocular complications such as diabetic retinopathy (DR). Nowadays, DR treatments involve invasive options and are applied at the sight-threatening stages of DR. It is important to investigate noninvasive or pharmacological methods enabling the disease to be controlled at the early stage or to prevent ocular complications. Animal models are useful in DR laboratory practice, and this review is dedicated to them. The first part describes the characteristics of the most commonly used genetic rodent models in DR research. The second part focuses on the main chemically induced models. The authors pay particular attention to the streptozotocin model. Moreover, this section is enriched with practical aspects and contains the current protocols used in research in the last three years. Both parts include suggestions on which aspect of DR can be tested using a given model and the disadvantages of each model. Although animal models show huge variability, they are still an important and irreplaceable research tool. Note that the choice of a research model should be thoroughly considered and dependent on the aspect of the disease to be analyzed
Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of <i>CACNA1F</i>-Associated Retinopathy—A Case Report
Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype–phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors