Search results for "Data"
showing 10 items of 12992 documents
Metabolite identification in human liver needle biopsies by high-resolution magic angle spinning1H NMR spectroscopy
2006
High-resolution magic angle spinning (HR-MAS) 1 H NMR spectroscopy of intact human liver needle biopsies has not been previously reported. HR-MAS NMR spectra collected on 17 specimens with tissue amounts between � 0.5 and 12 mg showed very good spectral resolution and signal-to-noise ratios. One-dimensional 1 H spectra revealed many intense signals corresponding to cellular metabolites. In addition, some high molecular weight metabolites, such as glycogen and mobile fatty acids, could be observed in some spectra. Resonance assignments for 22 metabolites were obtained by combining the analysis of three different types of 1D 1 H spectral editing, such as T2 filtering or the nuclear Overhauser…
A deep learning framework for automatic diagnosis of unipolar depression.
2019
Abstract Background and purpose In recent years, the development of machine learning (ML) frameworks for automatic diagnosis of unipolar depression has escalated to a next level of deep learning frameworks. However, this idea needs further validation. Therefore, this paper has proposed an electroencephalographic (EEG)-based deep learning framework that automatically discriminated depressed and healthy controls and provided the diagnosis. Basic procedures In this paper, two different deep learning architectures were proposed that utilized one dimensional convolutional neural network (1DCNN) and 1DCNN with long short-term memory (LSTM) architecture. The proposed deep learning architectures au…
Electrochemotherapy in the treatment of cutaneous malignancy: Outcomes and subgroup analysis from the cumulative results from the pan-European Intern…
2020
Electrochemotherapy (ECT) is a treatment for both primary and secondary cutaneous tumours. The international Network for sharing practices on ECT group investigates treatment outcomes after ECT using a common database with defined parameters.Twenty-eight centres across Europe prospectively uploaded data over an 11-year period. Response rates were investigated in relation to primary diagnosis, tumour size, choice of electrode type, route of bleomycin administration, electrical parameters recorded and previous irradiation in the treated field.Nine hundred eighty-seven patients, with 2482 tumour lesions were included in analysis. The overall response (OR) rate was 85% (complete response [CR]: …
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
2017
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community. Materials and methods Whole exome sequencing was performed as part of a "diagnostic odyssey" for suspected mitochon…
Growth hormone replacement in adults:Real-world data from two large studies in US and Europe
2020
Objective: This report describes the effectiveness and safety of growth hormone replacement in 3180 adult patients with growth hormone deficiency followed-up for 0.0–12.2 years in two completed, complementary, non-interventional, multicentre studies, NordiNet® International Outcome Study (IOS) (NCT00960128) and the American Norditropin® Studies: Web-Enabled Research (ANSWER) Program (NCT01009905). Design: In both studies, Norditropin® (somatropin; Novo Nordisk A/S, Denmark) was administered at the discretion of the treating physician and according to routine practice. We present data on baseline characteristics, growth hormone dose, safety data and change from baseline in waist circumferenc…
Assessing Planning Ability Across the Adult Life Span in a Large Population-Representative Sample: Reliability Estimates and Normative Data for the T…
2019
AbstractObjectives:The Tower of London (TOL) test has probably become the most often used task to assess planning ability in clinical and experimental settings. Since its implementation, efforts were made to provide a task version with adequate psychometric properties, but extensive normative data are not publicly available until now. The computerized TOL-Freiburg Version (TOL-F) was developed based on theory-grounded task analyses, and its psychometric adequacy has been repeatedly demonstrated in several studies but often with small and selective samples.Method:In the present study, we now report reliability estimates and normative data for the TOL-F stratified for age, sex, and education …
PORCN mutations in focal dermal hypoplasia: coping with lethality.
2009
Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …
Reliability and validity of the Digigraph 100 in orthodontic diagnosis.
2001
Cephalometric analyses of lateral cephalograms allow important statements to be made on diagnosis and treatment planning. Such radiographs should, however, be taken with a considerable reduction in radiation exposure. With the Digigraph 100 (Dolphin Imaging Systems Inc., USA) a cephalometric technique based on distance measurements of emitted sonic signals is now available. This study was aimed at determining the degree to which this procedure can cope with the requirements of reliability and validity in the field of orthodontics. For this purpose 50 volunteers were examined by conventional cephalometry with manual tracing of lateral cephalograms as well as by sonic cephalometry, with Jarab…
Association of 5′ end neuregulin-1 ( NRG1 ) gene variation with subcortical medial frontal microstructure in humans
2007
Animal data suggest that the gene neuregulin-1 (NRG1) is involved in neuronal myelination. A haplotype (deCODE) in the 5' end region of the gene was described to double the risk for schizophrenia in an Icelandic population (Stefansson, H., Sigurdsson, E., Steinthorsdottir, V., Bjornsdottir, S., Sigmundsson, T., Ghosh, S., Brynjolfsson, J., Gunnarsdottir, S., Ivarsson, O., Chou, T.T., Hjaltason, O., Birgisdottir, B., Jonsson, H., Gudnadottir, V.G., Gudmundsdottir, E., Bjornsson, A., Ingvarsson, B., Ingason, A., Sigfusson, S., Hardardottir, H., Harvey, R.P., Lai, D., Zhou, M., Brunner, D., Mutel, V., Gonzalo, A., Lemke, G., Sainz, J., Johannesson, G., Andresson, T., Gudbjartsson, D., Manolesc…
Optical noninvasive monitoring of skin blood pulsations
2005
Time-resolved detection and analysis of skin backscattered optical signals (remission photoplethysmography or PPG) provide rich information on skin blood volume pulsations and can serve for reliable cardiovascular assessment. Single- and multiple-channel PPG concepts are discussed. Simultaneous data flow from several locations on the human body allows us to study heartbeat pulse-wave propagation in real time and to evaluate vascular resistance. Portable single-, dual-, and four-channel PPG monitoring devices with special software have been designed for real-time data acquisition and processing. The prototype devices have been clinically studied, and their potential for monitoring heart arrh…