ABSTRACT
PURPOSE: To evaluate possible role of the UTS2 gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to diabetic retinopathy (DR) in a Turkish population. METHODS: Total number of 280 patients with DR (nonproliferative DR 170 and proliferative DR 110), 291 nondiabetic healthy controls, and 113 diabetic controls (without DR) were included to this study. The detection of UTS2 gene polymorphisms was achieved with PCR-RFLP technique. The Discovery Studio 2.1 program was used for molecular modeling analysis. RESULTS: Thr21Met (T21M) and Ser89Asn (S89N) polymorphisms of the UTS2 gene were associated with the risk of developing diabetes and DR. M21M genotype frequencies were high in PDR (8.9% in diabetic control vs. 54.6% in PDR, P = 0.0092) group. Increases in 21M allele frequency (52.7% in diabetic control vs. 76.4% in PDR, P < 0.0001) frequency in PDR group were detected. However, there were no changes in genotype and allele frequencies for T21M in NPDR group. There were decreases in the S89N genotype (23.9% in diabetic control vs. 13.5%) and 89N allele frequencies (11.9% in diabetic control vs. 6.8%) in NPDR group. However, S89S genotype (76.1% in diabetic control vs. 86.4%) and 89S allele frequencies (88.1% in diabetic control vs. 93.2%) were high in NPDR group. Three haplotypes (MN, MS and TS) were associated with NPDR patients (P < 0.001), but only MN (P < 0.001) and TS haplotypes (P = 0.018) were associated in PDR group. Molecular modeling analysis showed that these two polymorphisms changed the 3D structure of UTS2, and provided interactions with neighboring residues. CONCLUSION: The associations between Thr21Met and Ser89Asn polymorphisms in the UTS2 gene and DR strongly suggest that these SNPs may be an important a risk factor for the development of DR in Caucasians, and could be candidate markers for earlier diagnosis and targets for DR therapy.
Subject(s)
Diabetic Retinopathy/ethnology , Diabetic Retinopathy/genetics , Polymorphism, Single Nucleotide/genetics , Urotensins/genetics , Adult , Aged , Case-Control Studies , Female , Gene Frequency , Genetic Predisposition to Disease/ethnology , Genetic Predisposition to Disease/genetics , Genotype , Humans , Male , Middle Aged , Models, Genetic , Risk Factors , Turkey/epidemiology , White People/genetics , White People/statistics & numerical dataABSTRACT
Parameters of histological type, differentiation, lymph node metastasis and stage have been observed to indicate the prognosis of colorectal carcinomas. Immunohistochemically E-cadherin and ß -catenin expression of tumour cells have been evaluated to define life expectancy, response to the treatment, metastatic disease and recurrence of tumour in correlation with these prognostic parameters. 60 cases diagnosed as colorectal adenocarcinoma were selected to be studied retrospectively. Immunohistochemistry was performed using E-cadherin and ß -catenin primary antibodies and avidin-biotin-peroxidase. 53 of 60 adenocarcinoma tissues were evaluated as classical type adenocarcinoma and 7 of them as mucinous carcinoma. 48 classical type adenocarcinoma tissues showed membranous staining for E-cadherin, 13 tissues showed cytoplasmic staining. All 53 adenocarcinoma tissues expressed nuclear or membranous type ß -catenin in different intensities. Reduced E-cadherin expression significantly correlated with lymph nodes metastasis (p = 0.01). E-cadherin expression significantly correlated with increasing histological differentiation (p = 0.04). When E-cadherin and ß -catenin expressions were compared, there was a significant difference between the tumour stage, histological differentiation and the existence of lymph node metastasis. When both E-cadherin and ß -catenin expressions were reduced, there was a significant unfavourable prognosis.
Subject(s)
Adenocarcinoma/diagnosis , Cadherins/metabolism , Colorectal Neoplasms/diagnosis , Immunohistochemistry/methods , beta Catenin/metabolism , Adenocarcinoma/metabolism , Adenocarcinoma/mortality , Adenocarcinoma/secondary , Adolescent , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Colorectal Neoplasms/metabolism , Colorectal Neoplasms/mortality , Female , Humans , Lymph Nodes/pathology , Male , Middle Aged , Prognosis , Survival Rate , Young AdultABSTRACT
We describe a cryptococcal infection localized in the parotid gland of an otherwise healthy 72-year-old woman. The patient presented with a painful, approximately 4.5 cm diameter mass in the anterior region of her right ear. Her symptoms were mild and uncharacteristic. The patient had previously fallen on her face in her garden, causing the loss and breakage of her dentures. Since the soil of the garden contained chicken droppings, it is quite likely that the oral prothesis became contaminated on contacting the soil. The fungus probably entered the parotid gland through the traumatization of the posterior lateral wall of her oral cavity by her broken denture. Numerous intra- and extracellular cryptococcal yeast cells were observed in both histopathological and mycological slide preparations. The yeastlike fungus was recovered in cultures inoculated with tissue collected through three biopsies of her parotid region. The isolates were identified as Cryptococcus neoformans by classical mycology methods and found to be susceptible, in vitro, to fluconazole, amphotericin B and flucytosine. Fluconazole treatment (400 mg/d, for 6 months) was started and the patients facial swelling resolved and the pain significantly reduced within 5 weeks of the initiation of treatment. While fungal infection of the parotid gland have been reported, to our knowledge, this is the first description of a non-disseminated primary parotid infection due to C. neoformans.
