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Morpholino antisense knockdowns of ywhag and hip1 in zebrafish is explored to understand the contribution of Huntingtin-interacting protein 1 (HIP1) genes towards epilepsy and intellectual disabilities in the patients. The findings for the functional and proposed role of Hip1 protein in AMPA and NMDA tonotropic glutamate receptor trafficking could be applied to design drugs for improved seizure control and behavioral function.

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Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, including childhood autism, atypical autism, and Asperger syndrome, with an estimated prevalence of 1.0-2.5% in the general population. ASDs have a complex multifactorial etiology, with genetic causes being recognized in only 10-20% of cases. Recently, copy-number variants (CNVs) have been shown to contribute to over 10% of ASD cases. We have applied a custom-designed oligonucleotide array comparative genomic hybridization with an exonic coverage of over 1700 genes, including 221 genes known to cause autism and autism candidate genes, in a cohort of 145 patients with ASDs. The patients were classified according to ICD-10 standards and the Childhood Autism Rating Scale protocol into three groups consisting of 45 individuals with and 69 individuals without developmental delay/intellectual disability (DD/ID), and 31 patients, in whom DD/ID could not be excluded. In 12 patients, we have identified 16 copy-number changes, eight (5.5%) of which likely contribute to ASDs. In addition to known recurrent CNVs such as deletions 15q11.2 (BP1-BP2) and 3q13.31 (including DRD3 and ZBTB20), and duplications 15q13.3 and 16p13.11, our analysis revealed two novel genes clinically relevant for ASDs: ARHGAP24 (4q21.23q21.3) and SLC16A7 (12q14.1). Our results further confirm the diagnostic importance of array CGH in detection of CNVs in patients with ASDs and demonstrate that CNVs are an important cause of ASDs as a heterogeneous condition with a variety of contributory genes. [ABSTRACT FROM AUTHOR]

The incidence of candidiasis among immunocompromised patients and emergence of antimycotics resistant strains has increased significantly. The aims of this study were: to examine the in vitro activity of antimycotics and biocides against Candida clinical isolates; to detect cross-resistance of fungi to these preparations and to estimate whether disinfectants applied in hospital areas are active against clinical Candida isolates. In vitro susceptibility of 102 Candida isolates to eight antimycotics was examined by Etest and ATB Fungus. Sensitivity of these strains to four disinfectants and an antiseptic agent was tested according to EN 1275:2005. Amphotericin B, caspofungin and 5-fluorocytosine were the most effective antimycotics against all Candida isolates. Resistance to itraconazole and fluconazole was observed among C. krusei and C. glabrata. The MICs (Minimal Inhibitory Concentrations) for ketoconazole, voriconazole and posaconazole against Candida albicans ranged: 0.003 - >32 μg/ml and one strain was resistant to three agents tested. All analysed Candida strains were sensitive to biocides containing either chlorine, aldehyde, alcohol mixtures, glucoprotamin or chlorhexidine gluconate with isopropanol. Sensitivity to these agents was observed at concentrations lower than those concentrations recommended by manufacturers to achieve proper biocidal activity to those preparations. Our data suggest that these disinfectants can be effectively applied in clinical wards to prevent nosocomial Candida infections. [ABSTRACT FROM AUTHOR]

The aim of the study was to evaluate the activity of biocides against wide spectrum of clinical fungal strains and to examine whether disinfectants applied in hospital areas are active against the selected most resistant strains. Material and methods: The activity of the 4 disinfectants and antiseptic against 192 clinical and 3 reference fungal strains was tested according to the standard PN-EN 1275:2006. 189 of clinical isolates were susceptible to all tested biocides. Medicarine passed the standard against all tested clinical fungal strains. Results: Incidin LiquidSpray did not pass the test against two strains of Trichophyton mentagrophytes 7 and 187 and Aspergillus niger ATCC 16404; Spitaderm did not pass the test against Candida tropicalis 176 and T mentagrophytes 187;lncidin Plus showed activity against A. niger ATCC 16404 only at high concentration. Evaluation of the biocides activity against the selected resistant fungi was conducted in accordance with the standard PN-EN 13697:2003. All analyzed clinical strains were susceptible to disinfectants in parameters recommended by manufacturers. Lysoformine 3000 displayed no activity against A. niger ATCC 16404. Conclusions:A. niger ATCC 16404, C albicans ATCC 10231 and clinical isolates C. tropicalls 176, Penicillium citrinum 170, T mentagrophytes 7 and T mentagrophytes 187 should be used to evaluate the antifungal activity of biocides. The study provides data about various efficiency of the biocides against fungal strains. Selection of the most resistant strains should be used to evaluate the antifungal activity of biocides and to investigate the mechanisms of fungal resistance to biocides. [ABSTRACT FROM AUTHOR]

Background: The history of the investigation of standardized mycobactericidal activity of disinfectants and antiseptics is not very long. There is growing interest among the manufacturers of disinfectants in carrying out research on the antimicrobial activities in accordance with European standards (EN). This research could facilitate the introduction of high-quality disinfectants to the market. The aim of this study was to evaluate the mycobactericidal activity of selected chemical disinfectants and antiseptics used in the medical and veterinary fields., Material and Methods: This study included 19 products submitted to the National Medicines Institute in Poland for evaluation of mycobactericidal activity. These products contain in their composition active substances belonging to different chemical groups, including aldehydes, alcohols, amines, quaternary ammonium compounds, phenols, guanidine, and oxidizing compounds. This study, conducted according to the manufacturers' description of the preparations, was carried out in accordance with European standards, which also met the Polish standards: PN-EN 14204: 2013, PN-EN 14348: 2006, and PN-EN 14563: 2012., Results: Tested products for disinfection and antiseptics containing active substances from different chemical groups showed high mycobactericidal activity and met the requirements of the appropriate European standards in most cases. In the case of products containing guanidine and amine compounds, the concentration of active ingredients used in the test and the test conditions specified by the manufacturer did not provide the mycobactericidal activity required by the standards., Conclusions: Prior to the launch of a new product on the market, it is important to establish the appropriate usage and testing conditions of the preparation, such as its practical concentration, contact time, and environment condition (clean or dirty).

Background: Currently, there is a wide range of products for mouth washing on the Polish market. They have different qualitative and quantitative compositions, and they differ particularly in the concentration of active substances. In antisepsis and disinfection, the significant reduction in number of cells of microorganisms in a particular environment is very crucial. The chemical agents should provide a significant decrease in number of microorganisms in a relatively short time. The purpose of this study was to examine the bactericidal activity of selected herbal products used for treatment of inflammation, and disinfection and washing of the mouth, having antibacterial activity as declared by the manufacturers., Material and Methods: The study included 28 products for mouth washing and disinfection available in Poland. Bactericidal activity was studied using a quantitative suspension test according to the standard PN-EN 1040., Results: Only 1 of 4 tested herbal products, registered as medicinal products, showed satisfactory antibacterial activity when they were used according to the manufacturer's recommendations. A total of 13 preparations (48%) complied with the standard requirements against all tested strains. Up to 19% of products showed no bactericidal activity against bacterial strains, and up to 33% were only effective against certain microorganisms., Conclusions: The informational literature accompanying most antiseptics should be corrected by the manufacturers, providing information about antimicrobial activity consistent with the requirements of applicable standards. The information on the packaging or in the leaflets for antiseptic products should be corrected by the manufacturers to include accurate information on antimicrobial activity.