Cardiac manifestations of PRKAG2 mutation.

BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardiomyopathy (HCM), and it is often associated with conduction abnormalities. CASE PRESENTATION:A 23 year-old female with history of Wolff-Parkinson-White (WPW) and HCM presented for evaluation after an episode of Non-ST Elevation Myocardial Infarction (NSTEMI). The patient was found to have severe coronary bridging on angiography and underwent an unroofing of the left anterior descending artery (LAD). Due to the constellation of symptoms, the patient underwent genetic testing and a cardiac muscle biopsy. Genetic testing was significant for an Arg302Gln mutation in the PRKAG2 gene. Cardiac tissue biopsy revealed significant myocyte hypertrophy and large vacuoles with glycogen stores. CONCLUSION:The pathologic and genetics findings of our patient are consistent with PRKAG2 syndrome. Patients presenting with conduction abnormalities and suspected HCM should be considered for genetic testing to identify possible underlying genetic etiologies

Yeast from urinary nosocomial infection : biofilm and susceptibility to antifungal profile

Urinary infections caused by yeasts of Candida genus, in hospital environment, are frequent. The object of this work was to evaluate the susceptibility profile of yeasts isolated in patients with urinary infection to antifungal agents, comparing with broth methods microdilution and disk diffusion, and it was evaluated the capacity of these yeasts to form biofilm as well. There were used 98 samples isolated from hospitalized patients. Yeasts were isolated from urine culture with counting inferior to 105 CFU/ml although mixed cultures with bacteria, and cultures collected under the use of probe without previous changing were not selected. Susceptibility tests were evaluated using the following antifungals: amphotericin B, ketoconazole, fluconazole, itraconazole, voriconazole e caspofungin. The biofilm formation was carried out in polystyrene microtitration plate. Even though there were resistant isolates however most of them were susceptible for both methods. In this work, some discrepancies were observed between the susceptibility methods, suggesting that resistant cases for disk diffusion should be confirmed through the reference method (broth microdilution). C. tropicalis, had the higher capacity to form biofilm (91.7%) than C. albicans (82.5%) and C. glabrata (61.3%). In order to avoid biofilm formation, we suggest that the health professionals to be careful during the manipulation of urinary catheters, once the capacity of fungi to form biofilm upon foreign bodies is considered one of the main reasons for the antifungal treatment failure. We believe that the candiduria finding requires more attention and a better monitoring, especially in patients of high risk, considering the importance to avoid systemic infections with high mortality indices. It is also interesting the identification of yeasts isolated from patients with urinary infection, and the performance of susceptibility tests to antifungals as well, in order to avoid empiric therapy, and consequently the emergence of resistant isolates taking into consideration the variability of response to the antifungals evaluated

Gefarnate stimulates mucin-like glycoprotein secretion in conjunctival tissue and ameliorates corneal epithelial damage in animal dry-eye models

Atsuyoshi Dota, Yuko Takaoka-Shichijo, Masatsugu NakamuraOphthalmic Research and Development Center, Santen Pharmaceutical Co, Ltd, Ikoma-shi, Nara, JapanPurpose: The aim of this study was to evaluate the effect of gefarnate on mucin-like glycoprotein secretion in isolated rabbit conjunctival tissue, and on corneal epithelial damage in rabbit and cat dry-eye models.Methods: Conjunctival tissue isolated from rabbits was treated with gefarnate. Mucin-like glycoprotein was detected in the culture supernatant by an enzyme-linked lectin assay. Gefarnate ointment was topically applied to eyes once daily for 7 days in the rabbit dry-eye model, in which the lacrimal glands, Harderian gland, and nictitating membrane were removed, or for 4 weeks in the cat dry-eye model, in which the lacrimal gland and nictitating membrane were removed. Corneal epithelial damage was evaluated by measurement of corneal permeability by rose bengal in the rabbit model or by fluorescein staining in the cat model.Results: Gefarnate stimulated mucin-like glycoprotein secretion in conjunctival tissue in a dose-dependent manner. In the rabbit dry-eye model, application of gefarnate ointment to the eyes resulted in a dose-dependent decrease in rose bengal permeability in the cornea, with the effect being significant at concentrations of ≥0.3%. In the cat dry-eye model, application of gefarnate ointment resulted in a significant decrease in the corneal fluorescein staining score.Conclusion: These results suggest that gefarnate stimulates in vitro secretion of mucin-like glycoprotein in conjunctival tissue and ameliorates corneal epithelial damage in animal dry-eye models. Gefarnate may therefore be effective for treating dry eye.Keywords: gefarnate, fluorescein staining, rose bengal permeability, rabbit, cat, dry ey