Search results for "INFORMATICS"
showing 10 items of 2542 documents
Two independent epigenetic biomarkers predict survival in neuroblastoma.
2015
Background Neuroblastoma (NB) is the most common extracranial pediatric solid tumor with a highly variable clinical course, ranging from spontaneous regression to life-threatening disease. Survival rates for high-risk NB patients remain disappointingly low despite multimodal treatment. Thus, there is an urgent clinical need for additional biomarkers to improve risk stratification, treatment management, and survival rates in children with aggressive NB. Results Using gene promoter methylation analysis in 48 neuroblastoma tumors with microarray technology, we found a strong association between survival and gene promoter hypermethylation (P = 0.036). Hypermethylation of 70 genes significantly …
Detection and Differential Diagnosis of Prekallikrein Deficiency: Genetic Study of New Families and Systematic Review of the Literature
2018
Abstract Introduction. Prekallikrein (PK) and high-molecular-weight kininogen (HK) deficiencies are ultra-rare, autosomal-recessive defects of the contact system caused by biallelic mutations in the KLKB1 and KNG1 genes, respectively. Since affected subjects do not manifest a bleeding phenotype, a correct diagnosis is essential to prevent the administration of prohemostatic agents or plasma and to avoid delay of surgery. We describe a new case of PK deficiency identified at UMC Mainz. In addition, we performed a systematic review of the literature in order to i) collect blood material for genetic studies of reported PK deficient cases lacking this information, and ii) perform a comprehensiv…
Relapsed and/or Refractory Mantle Cell Lymphoma: What Role for Temsirolimus?
2012
Mantle Cell Lymphoma (MCL) is associated with a dismal prognosis. Recently, along with the improved understanding of the pathophysiology of this disease, new first line regimens have been established and in addition novel treatment options have entered the clinical arena. In consequence, prognosis of the disease has fortunately improved. We here focus on the rationale, current clinical knowledge and future concepts of Temsirolimus, an inhibitor of mTOR, in the treatment of MCL. At this time this drug has been shown to be effective as single agent for relapsed disease and early combination data show promising results. In addition, with a brief outline of other treatment options, we aim to g…
Shift Work and Prostate Cancer Incidence in Industrial Workers
2015
In 2007 the International Agency for Research on Cancer (IARC) classified shift work involving circadian disruption as a probable human carcinogen (1). Most of the evidence for this is based on animal experiment models and only a few reliable epidemiological studies. The cancer best described to date is breast cancer; this has mainly been investigated in female nurses and flight attendants (2, 3). Shift work can also increase the incidence of prostate cancer, as plausibly described in a review article published in 2012 (4). Mechanistically, it is possible that nocturnal light exposure and disrupted circadian rhythms cause cancer, or that tumor growth is favored by hormonal mediation. Noctur…
Serum coding and non-coding RNAs as biomarkers of NAFLD and fibrosis severity
2019
Background: In patients with NAFLD liver biopsy is the gold standard to detect NASH and stage liver fibrosis. We aimed to identify differentially expressed mRNAs and non-coding RNAs in serum samples of biopsy-diagnosed mild and severe NAFLD patients with respect to controls and to each other. Methods: We first performed a whole transcriptome analysis through microarray (n=12: 4 CTRL; 4 mild NAFLD: NAS≤4 F0; 4 severe NAFLD NAS≥5 F3), followed by validation of selected transcripts through qPCRs in 88 subjects: 63 NAFLD, 25 CTRL. A similar analysis was also performed on HepG2 exposed to Oleate:Palmitate or only Palmitate (cellular model of NAFL/NASH) at intracellular/extracellular levels. Tran…
Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study
2012
Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…
A Computational Study on Temperature Variations in MRgFUS Treatments Using PRF Thermometry Techniques and Optical Probes
2021
Structural and metabolic imaging are fundamental for diagnosis, treatment and follow-up in oncology. Beyond the well-established diagnostic imaging applications, ultrasounds are currently emerging in the clinical practice as a noninvasive technology for therapy. Indeed, the sound waves can be used to increase the temperature inside the target solid tumors, leading to apoptosis or necrosis of neoplastic tissues. The Magnetic resonance-guided focused ultrasound surgery (MRgFUS) technology represents a valid application of this ultrasound property, mainly used in oncology and neurology. In this paper
A system-level mathematical model of Basal Ganglia motor-circuit for kinematic planning of arm movements
2017
International audience; In this paper, a novel system-level mathematical model of the Basal Ganglia (BG) for kinematic planning, is proposed. An arm composed of several segments presents a geometric redundancy. Thus, selecting one trajectory among an infinite number of possible ones requires overcoming redundancy, according to some kinds of optimization. Solving this optimization is assumed to be the function of BG in planning. In the proposed model, first, a mathematical solution of kinematic planning is proposed for movements of a redundant arm in a plane, based on minimizing energy consumption. Next, the function of each part in the model is interpreted as a possible role of a nucleus of…
Evaluation of the efficacy of low-level laser in improving the symptoms of burning mouth syndrome
2015
Background: Burning mouth syndrome (BMS) is common condition that affects menopause women, patients suffer from sever burning sensation. Up to now there is no definitive treatment for this disease. Present study was undertaken to evaluate the efficacy of low-level laser (LLL) in improving t he symptoms of burning mouth syndrome. Material and Methods: Twenty patients with BMS were enrolled in this study; they were divided in two groups randomly. In the laser group, in each patient, 10 areas on the oral mucosa were selected and underwent LLL irradiation at a wavelength of 630 nm, and a power of 30 mW for 10 seconds twice a week for 4 weeks. In the placebo group, silent/off laser therapy was c…
Can ‘Fellow of the European Board of Ophthalmology Subspecialty Diploma in Glaucoma,’ a subspecialty examination on glaucoma induce the qualification…
2016
From 2015, the examination of Fellow of the European Board of Ophthalmology Subspecialty Diploma in Glaucoma (FEBOS-Glaucoma) was launched by the European Board of Ophthalmology (EBO) in cooperation with the European Glaucoma Society (EGS). This opinion aims at disclosing the background of the examination, prerequisite to the examination, and the value of the FEBOS-Glaucoma diploma.