Search results for "bioinformatics"
showing 10 items of 1632 documents
Microbiome and Diseases: Hepatic Disorders
2018
Intensive research efforts aim to understand the multifaceted molecular mechanisms underlying disease onset and progression of nonalcoholic fatty liver disease (NAFLD) and alcohol-induced liver disease (ALD). Taken together, NAFLD and ALD are the most common liver diseases worldwide, and universally accepted therapies other than lifestyle interventions either focusing on weight reduction and physical exercise or alcohol abstinence are lacking. During the last decade, alterations of intestinal microbiota composition and intestinal barrier function leading to an increased translocation of bacterial endotoxin and of metabolites originating from an altered intestinal microbiome are emerging as …
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021
AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splic…
Toxicity test of a dental commercial composite
2015
BACKGROUND: International rules must be followed for testing biosecurity in dental materials. A new brand of restorative material appeared in the market and regulations indicated that it should be tested for toxicity. OBJECTIVES: The aim of this study was to determine the 90-day sub chronic toxicity of one triethylene glycol dimethacrylate containing composite (MEDENTAL Light-Cure Composite™) orally administered to rats according to Organization for Economic Co-Operation and Development no. 48 guidelines and the requirements specified in the ISO 10993-11. MATERIAL AND METHODS: Wistar rats ate the polymerized composite during 90 days and were observed to determine changes in their behavior, …
Smear layer removal in canals shaped with reciprocating rotary systems
2013
The aim was to assess the presence of smear layer after canal instrumentation with two reciprocating rotary systems and a continuous motion one. Thirty canals were shaped with Reciproc, WaveOne or Mtwo systems. Smear layer was assessed following a three value scale at coronal, middle and apical levels with a scanning electron microscopy. Reciproc scores: coronal third, 20% of the cases: 0, 60%: 1, 20%: 2; middle third, 10%: 0, 20%: 1, 70%:2; apical third: 2 in all cases. WaveOne scores: coronal third, 0 (40%), 1 (30%) and 2 (30%); middle third, 0 (20%), 1 (50%), 2 (30%); apical third, 0 (20%), 2 (80%) of cases. MTwo scores: coronal third 0 (50%), 1 (30%) 2 (20%); middle third 0 (20%), 1 (50…
Systems Biology, Bioinformatics and Medicine Approaches to Cancer Progression Outcomes
2011
Because of the complexity of carcinogenesis and tumour development, it is critical to understand the underlying organizing principles. In this chapter a possible approach is illustrated, starting with a description of breast cancer prognosis as a function of three powerful biological motifs derived from gene expression profiling. A proliferation metagene describing the transition from slow to fast proliferation leads to the most dramatic aggravation of prognosis. A second immune cell metagene represents an opponent of tumour evolution, whereby only fast-proliferating tumours that are not recognized and eliminated by immune cells can progress. In the absence of endocrine treatment, a third m…
Optimization of curation of the dataset with data on repeated dose toxicity
2015
Introduction: For some areas of risk assessment, the use of alter-native methods is supported by current directives and guidance(e.g. REACH, Cosmetics, BPD, PPP). According to OECD principles alternative methods need to be scientifically valid. Methods: Within a project on grouping and development of predictive models sup-ported by a grant of Federal Ministry of Education and Research, we curated a dataset based on RepDose and ELINCS database. The final dataset consists of rat repeated dose toxicity studies for 1022 com-pounds representing 28 endpoints as organ-effect-combinations. Toxicological and modelling experts did jointly the curation and selection of endpoints as an iterative proces…
Diagnosis of the neuronal ceroid lipofuscinoses: An update
2006
Abstract For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options. The presenting clinical features prompt initial investigation and also guide clinical care. The clinical labels “infantile NCL”, “late infantile NCL” and “juvenile NCL”, therefore remain useful in practice. In unusual or atypical cases ultra-structural analysis of white blood cells or other tissue samples enables planning and prioritisation of biochemical and genetic tests.This review describes cu…
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
2013
Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures. Design Prospective analysis. Patients 19 Caucasian patients with typical features of WS underwent stepwise investigation of PAX3 and MITF . When point mutations and small insertions/deletions were excluded by direct sequencing, copy number analysis by multiplex ligation-dependent probe …
The Relevance of Genetic Factors in Tumor Therapy and the Underlying Pharmacogenetic Principles
2017
In the following chapter it is shown that only by the combination of pharmacological and genetic research programs new relevant findings of tumor formation and progression can be gained. This then lead to an improved and individualized therapy of the patients in the area of application.
Evolution of the Regulatory Landscape for Immunomodulatory Compounds and Personalized Therapeutic Cancer Vaccines
2014
The term cancer immunotherapy covers a huge range of different therapeutic interventions based on highly diverse medicinal products. Some immunotherapy products such as monoclonal antibodies have successfully been developed during the last years and contributed to major advances in cancer therapy. Development of cancer vaccines seemed to be more challenging. Nevertheless, some promising candidates are currently in late-stage clinical development, and one product (sipuleucel-T) was recently approved in the United States (USA) and in the European Union (EU). Additionally, cell therapy approaches based on adoptive lymphocyte transfer have recently come into focus due to surprisingly efficient …