No abstract

IL-2 and TNF-alpha might play a role in burning mouth syndrome. Burning mouth syndrome may occur as a sign of predisposition to autoimmunity. Presence of low levels of CD28(+) supports the provision that BMS might be a pre-autoimmune disease.

The results of our study indicate that Mg levels could have an impact on symptoms of BMS and further studies are necessary to determine the importance of cytokines in the pathogenesis of BMS.

Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B″gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown. Patients and methods Four girls from four unrelated families with 46, XY complete gonadal dysgenesis were studied using exome or Sanger sequencing of PPP2R3C gene. In total, four patients and their heterozygous parents were investigated for clinical, laboratory, immunohistochemical and molecular characteristics. Results We have identified three different homozygous PPP2R3C variants, c.308T>C (p.L103P), c.578T>C (p.L193S) and c.1049T>C (p.F350S), in four girls with 46, XY complete gonadal dysgenesis. Patients also manifested a unique syndrome of extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. We have shown a decreased SOX9-Phospho protein expression in the dysgenetic gonads of the patients with homozygous PPP2R3C variants suggesting impaired SOX9 signaling in the pathogenesis of gonadal dysgenesis. Heterozygous males presented with abnormal sperm morphology and impaired fertility. Conclusion Our findings suggest that PPP2R3C protein is involved in the ontogeny of multiple organs, especially critical for testis development and spermatogenesis. PPPR3C provides insight into pathophysiology, as well as emerging as a potential therapeutic target for male infertility.

Objective To compare the frequency of apoptosis in the erectile tissue of chronic diabetic and healthy rats. Materials and methods Fourteen chronic diabetic and 10 healthy Sprague±Dawley rats were killed, their penises harvested and stored at ±70uC until staining and¯ow cytometric analysis for apoptosis. A cell suspension was obtained from the penile tissue by scraping the inside of the cavernosum with a scalpel and ®ltering through a mesh. Samples of the cell suspension (0.5r10 6 cells) were stained with Annexin V (an indicator of apoptosis) and propidium iodide (PI, which stains dead cells), incubated for 15 min at room temperature and analysed by¯ow cytometry. The DNA content was also analysed in each sample.Results In normal erectile tissue, a mean of 6.2% of cells were stained with Annexin V, while only 2.7% were stained with PI; DNA content analyses showed 7.5% were hypodiploid cells. In diabetic rats 19.5% of cells were stained with Annexin V and 5.2% with PI; 22.9% of cells were hypodiploid. Conclusion The ratio of apoptotic cells in the erectile tissues of diabetic rats was signi®cantly greater than in normal rats. The high rate of apoptosis in diabetic rats may play a role in the pathophysiology of erectile dysfunction.

In this study, we synthesized and characterized a silicon phthalocyanine substituted with 3-hydroxypyridin-2-thione ( SiPc-HDACi ), designed to be a chemophotodynamic therapy agent acting as a histone deacetylase inhibitor, and we determined its photophysical, photochemical, and photobiological properties. Next, we evaluated its anticancer efficacy on MCF-7, double positive and MDA-MB-231, triple negative breast cancer cell lines, as well as on a healthy human endothelial cell line (HUVEC). Our results indicate that SiPc-HDACi can target nucleoli of cells, effectively inducing apoptosis while promoting cell cycle arrest thanks to its high singlet oxygen yield and its histone deacetylase downregulating properties, suggesting a powerful anticancer effect on breast cancer in vitro . Our further studies will be conducted with primary breast cancer cell culture to give a better insight into the anticancer mechanism of the compound.

Aims : To assess the association of serum anti-p53 antibodies and overexpression of tumor p53 protein with survival and prognostic factors in patients with urinary bladder tumors. Methods : Seventy-six patients with transitional cell carcinoma of the urinary bladder were assessed prospectively (Ta, 18; T 1 , 30; ≥ T 2 , 28). Serum anti-p53 antibodies were detected by enzyme-linked immunosorbent assay. Tumor p53 gene overexpression was assessed by immunohistochemical staining. The mean follow-up time was 34 months.Result s: Serum anti-p53 antibodies were positive in 25 patients (33%). Overexpression of tumor p53 protein was positive in 41 patients (54%). There was an association between the presence of serum anti-p53 antibodies and tumor p53 gene overexpression ( P = 0.001). The total survival of the patients with positive serum anti-p53 antibodies was shorter than the patients with positive tumor p53 gene overexpression ( P < 0.001, P = 0.344, respectively). In the multivariate survival analysis, both tumor stage and serum-p53 antibodies were found to be independent survival predictors ( P = 0.004, P = 0.006, respectively). Conclusion : Serum anti-p53 antibody positive tumors had a worse prognosis than those with negative serum levels, regardless of the p53 status of the tumor.

In this study, 12 week-withdrawal of inhaled steroid treatment resulted in a significant increase in bronchial hyperreactivity and decrease in neutrophil apoptosis, but no change in sputum inflammatory markers in children with non-CF bronchiectasis was observed.