145 research outputs found

    Analysis of instagramÂź posts referring to cleft lip

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    Background: Social media has become a source of medical information. Cleft lip and palate is a visible congenital anomaly. The aim of the study was to analyze Instagram¼ posts on the topic of cleft lip. Methods: Instagram¼ posts with “#cleftlip” from March 2014–March 2017 were accessed. Separate lists of expressions (hashtags, meaningful words, words with emojis or emojis alone) were prepared for primary posts and for replies. Thirty expressions statistically most frequent in primary versus secondary posts and 30 in secondary versus primary posts were identified (Group 1) as well as 30 English words or hashtags (Group 2), non-English words or hashtags (Group 3) and emojis (Group 4). The frequencies of expressions were compared (Z-test for the difference of two population proportions). Results: There were 34,129 posts, (5427 primary posts and 28,702 replies), containing 62,163 expressions, (35,004 in primary posts). The occurrence of all expressions was 454,162, (225,418 in primary posts and 228,744 in replies). Posts with positive expressions such as “beautiful”, “love”, “cute”, “great”, “awesome” occurred more often than these with negative ones. In replies all emojis were positive. Conclusions: Numerous Instagram¼ posts referring to cleft lip are published and do provoke discussion. People express their solidarity and sympathize with persons affected by cleft

    Comparative study of anterior eye segment measurements with spectral swept-source and time-domain optical coherence tomography in eyes with corneal dystrophies

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    Purpose. To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs). Methods. Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes) were recruited for the study. Automated and manual central corneal thickness (aCCT, mCCT), anterior chamber depth (ACD), and nasal and temporal trabecular iris angle (nTIA, tTIA) were measured and compared with Bland-Altman plots. Results. Good agreement between the TD and SS OCT measurements was demonstrated for mCCT and aCCT in normal individuals and for mCCT in the CDs group. The ACD, nTIA, and tTIA measurements differed significantly in both groups. TBCD, LCD, and FECD caused increased CCT. MCD caused significant corneal thinning. FECD affected all analyzed parameters. Conclusions. Better agreement between SS OCT and TD OCT measurements was demonstrated in normal individuals compared to the CDs group. OCT provides comprehensive corneal deposits analysis and demonstrates the association of CD with CCT, ACD, and TIA measurements

    Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

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    Purpose. To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs). Methods. Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes) were recruited for the study. Automated and manual central corneal thickness (aCCT, mCCT), anterior chamber depth (ACD), and nasal and temporal trabecular iris angle (nTIA, tTIA) were measured and compared with Bland-Altman plots. Results. Good agreement between the TD and SS OCT measurements was demonstrated for mCCT and aCCT in normal individuals and for mCCT in the CDs group. The ACD, nTIA, and tTIA measurements differed significantly in both groups. TBCD, LCD, and FECD caused increased CCT. MCD caused significant corneal thinning. FECD affected all analyzed parameters. Conclusions. Better agreement between SS OCT and TD OCT measurements was demonstrated in normal individuals compared to the CDs group. OCT provides comprehensive corneal deposits analysis and demonstrates the association of CD with CCT, ACD, and TIA measurements

    Microelectrode-based probing of charge propagation and redox transitions in concentrated polyoxometallate electrolyte of potential utility for redox flow battery

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    Concentrated solutions of Keggin-type silicotungstic acid, as well as the system's single crystals (H4SiW12O40*31H2O) and their colloidal suspensions have been tested using the microelectrode methodology to determine mass-transport, electron self-exchange and apparent (effective) diffusion-type coefficients for charge propagation and homogeneous (electron self-exchange) rates of electron transfers. Silicotungstic acid facilitates proton conductivity, and undergoes fast, reversible, multi-electron transfers leading to the formation of highly conducting, mixed-valence (tungsten(VI,V) heteropoly blue) compounds. To develop useful electroanalytical diagnostic criteria, electroanalytical approaches utilizing microdisk electrodes have been adapted to characterize redox transitions of the system and to determine kinetic parameters. Combination of microelectrode-based experiments performed in two distinct diffusional regimes: radial (long-term experiment; e.g., slow scan rate voltammetry or long-pulse chronoamperometry) and linear (short-term experiment; e.g., fast scan rate voltammetry or short-pulse chronocoulometry) permits absolute determination of such parameters as effective concentration of redox centers (C0) and apparent transport (diffusion) coefficient (Dapp). The knowledge of these parameters, in particular of [Dapp1/2 C0] seems to be of importance to the evaluation of utility of redox electrolytes for charge storage. For the colloidal suspension of silicotungstic acid (H4SiW12O40) crystals in the saturated solution, the following values have been obtained: Dapp = 1.8*10-6 cm2 s−1 and C0 = 1.1 mol dm−3, as well as the [Dapp1/2 C0] diagnostic parameter has reached the value as high as 6*10-3 mol/dm−3 cm s−1/2, provided that four electrons are involved in the H4SiW12O40 redox transitions. In this respect, the fact that crystals (dispersed solids) are characterized by high electron self-exchange rate (kex = 1.1*108 dm3 mol−1 s−1) and low activation energy (EA = 18.7 kJ mol−1) facilitating electron transfers between immobilized WVI and WV redox sites is also advantageous

    Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

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    Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some of the members of this family of disorders. In addition to the current diagnostic tools, there is an increasing interest for the development of novel non-invasive biomarkers for the diagnosis and monitoring of these diseases. miRNAs are small RNA molecules characterized by high stability in blood thus making them ideal biomarker candidates for various diseases. In this study, we present the first genome-wide next-generation small RNA sequencing in serum samples of five different types of muscular dystrophy patients and healthy individuals. We identified many small RNAs including miRNAs, lncRNAs, tRNAs, snoRNAs and snRNAs, that differentially discriminate the muscular dystrophy patients from the healthy individuals. Further analysis of the identified miRNAs showed that some miRNAs can distinguish the muscular dystrophy patients from controls and other miRNAs are specific to the type of muscular dystrophy. Bioinformatics analysis of the target genes for the most significant miRNAs and the biological role of these genes revealed different pathways that the dysregulated miRNAs are involved in each type of muscular dystrophy investigated. In conclusion, this study shows unique signatures of small RNAs circulating in five types of muscular dystrophy patients and provides a useful resource for future studies for the development of miRNA biomarkers in muscular dystrophies and for their involvement in the pathogenesis of the disorders

    Combined deletion and DNA methylation result in silencing of FAM107A gene in laryngeal tumors

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    Larynx squamous cell carcinoma (LSCC) is characterized by complex genotypes, with numerous abnormalities in various genes. Despite the progress in diagnosis and treatment of this disease, 5-year survival rates remain unsatisfactory. Therefore, the extended studies are conducted, with the aim to find genes, potentially implicated in this cancer. In this study, we focus on the FAM107A (3p14.3) gene, since we found its significantly reduced expression in LSCC by microarray profiling (Affymetrix U133 Plus 2.0 array). By RT-PCR we have confirmed complete FAM107A downregulation in laryngeal cancer cell lines (15/15) and primary tumors (21/21) and this finding was further supported by FAM107A protein immunohistochemistry (15/15). We further demonstrate that a combined two hit mechanism including loss of 3p and hypermethylation of FAM107A promoter region (in 9/15 cell lines (p p FAM107A expression (5 to 6 fold increase) in the UT-SCC-29 cell line, characterized by high DNA methylation. Therefore, we report the recurrent inactivation of FAM107A in LSCC, what may suggest that the gene is a promising tumor suppressor candidate involved in LSCC development.</p
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