167 research outputs found

    Preface

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    Preface

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    Preface

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    Preface

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    Idiopathic nodular glomerulosclerosis in a chronic marijuana user; a case report and review of the literature

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    Background: Nodular glomerulosclerosis is a characteristic histological finding of diabetic nephropathy (DN) with thickened glomerular basement membrane (GBM) and hyalinized arterioles. Idiopathic nodular glomerulosclerosis (ING), a rare distinct clinicopathologic entity, is the term used to denote classic DN confirmed by light microscopy, immuno-fluorescence, and electron microscopy in the absence of diabetes mellitus (DM). ING has been linked to heavy tobacco smoking, chronic hypertension, obesity and insulin resistance. Its association with marijuana use is unknown. Case Presentation: We report a case of biopsy-proved ING in the absence of pre-existing history of DM and heavy smoking. This report addresses the possible accentuation of tobacco use risk by marijuana. Conclusions: This report addresses the possible accentuation of tobacco use risk by marijuana. © 2017 The Author(s); Published by Society of Diabetic Nephropathy Prevention

    Peritonitis in Peritoneal Dialysis

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    Peritoneal dialysis (PD) involves solute and water transport across a semipermeable membrane that separates fluid compartments. Peritonitis is a serious complication of peritoneal dialysis that results in considerable morbidity and health care costs. It also significantly distorts the normal anatomy of the peritoneal membrane causing transient and long-term adverse events. Bacterial as well as fungal organisms can cause peritonitis and sometimes cultures can be negative. As much as 5–16% of deaths occur in PD even though the rate of infections has been in decline in last few years. Below we will be reviewing risk factors, host’s immune defenses, prevention, diagnosis and evidence-based treatment, types of peritonitis with a role of prophylactic antibiotics for PD peritonitis

    Computational Methods for Annotation Analysis of Genetic Variations

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    Analýza a interpretace variací DNA je důležité pro zkoumání genetického pozadí dědičnosti, nemocí a jiných fenotypových rysů. Tato práce stručně úvadí oblasti molekulární biologie a základních principů genetiky, popisuje metody pro anotační analýzy genetických variací, genomové asociační studie a metody pro analýzy obohacení s jejich implementací. V rámci této práce jsme představili nový webový nástroj Varanto, který může být použit k anotaci, vizualizaci a analýze genetických variací. Může být použit k analýze obohacení anotací pomocí hypergeometrického testu pro danou množinu variací. Varanto obsahuje uživatelské webové rozhraní vyvinuté pomocí frameworku Shiny jazyka R. Výkon a funkcionalita nástroje jsou testovány a demonstrovány podle výkonových benchmarků a na základě analýzy a interpretace dat z dříve publikovaných genomových asociačních studií.Analysis and interpretation of DNA variations is very crucial for research trying to solve genetic background of heritability, diseases and other traits. This thesis briefly introduces the field of molecular biology and basic principles of genetics, discusses genetic variation annotation methods, genome-wide association studies and enrichment analysis methods with their implementation algorithms. As a part of this thesis, we introduce a novel web tool called Varanto that can be used to annotate, visualize and analyse genetic variations. It can be used to perform hypergeometric test based annotation enrichment analysis for a set of genetic variations. Varanto includes a web based user interface developed using Shiny web application framework for R. Varanto's performance and functionality is tested and showcased by performance benchmarks and by analysing and interpreting data from previously published genome-wide association studies.

    Preface

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    Computational methods for annotation analysis of genetic variations

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