Search results for "FINGER"
showing 10 items of 400 documents
High expression of GLI1 is associated with better survival in advanced SCLC
2020
Aim Aberrant Sonic hedgehog (Shh) pathway signaling has been described in small cell lung cancer (SCLC), as well discrepancies, when analyzing expression of pathway components in SCLC cell lines vs tumor biopsies. Shh key component GLI1 was evaluated in advanced SCLC and data correlated with patient survival. Materials and methods GLI1 expression was analyzed by quantitative real-time polymerase chain reaction in pre-treatment fresh frozen tumor biopsies of 12 advanced SCLC patients and mRNA level of GLI1 was compared in short-term vs long-term survivor's samples (stratified by median survival, independent samples t-test). Results Expression of GLI1 mRNA was significantly higher in long-ter…
Genome-wide DNA profiling of marginal zone lymphomas identifies subtype-specific lesions with an impact on the clinical outcome
2011
Abstract Marginal zone B-cell lymphomas (MZLs) have been divided into 3 distinct subtypes (extranodal MZLs of mucosa-associated lymphoid tissue [MALT] type, nodal MZLs, and splenic MZLs). Nevertheless, the relationship between the subtypes is still unclear. We performed a comprehensive analysis of genomic DNA copy number changes in a very large series of MZL cases with the aim of addressing this question. Samples from 218 MZL patients (25 nodal, 57 MALT, 134 splenic, and 2 not better specified MZLs) were analyzed with the Affymetrix Human Mapping 250K SNP arrays, and the data combined with matched gene expression in 33 of 218 cases. MALT lymphoma presented significantly more frequently gain…
Cell line DNA typing in forensic genetics—the necessity of reliable standards
2003
The incorporation of reference DNA is crucial to the validation of any DNA typing protocol. This paper aims to provide a panel of reference DNAs for actual forensic profiling strategies, i.e. autosomal and gonosomal STR typing as well as mtDNA sequencing. We have characterised three human lymphoid cell lines, GM9947, GM9948 and GM3657, and considered 58 autosomal and gonosomal microsatellites as well as the mitochondrial control region sequence. Well-established markers and STRs recently developed for forensic use were involved. K562 DNA samples which we purchased from two different suppliers were also analysed. They revealed conflicting results with regard to the ChrX STR marker genotype. …
Impaired reproduction of second but not millisecond time intervals in Parkinson's disease
2008
The basal ganglia have been associated with temporal processing in ranges of milliseconds and seconds. However, results from PD patient studies are elusive. Time perception in these patients has been tested with different approaches including repetitive movement tasks (i.e. finger tapping) and cognitive tasks (i.e. time reproduction), and both abnormal and normal performances have been reported for different time intervals. Furthermore, when PD patients were required to learn two target durations in the same session when they were off medication, they overestimated the short duration and underestimated the long duration in the seconds range. This pattern of temporal accuracy was described a…
Expert witness in paternity testing in Germany.
2003
In Germany, paternity testing can be ordered by a judge as well as by private persons. In the case of private counselling, the expert has the duty to inform the parties on all medical, legal and ethical aspects. Informed consent must be given by each individual included in an exploration of family relationships. Due to the rapid progress of DNA typing in even minute amounts after polymerase chain reaction amplification, genotypes of short tandem repeat systems can be elicited by extraction from single cells. Therefore, the number of unlawful investigations of paternal relationships is steadily increasing. Here the requirements for paternity testing laboratories and sanctions for unlawful ex…
Reliability, validity and feasibility of nail ultrasonography in psoriatic arthritis
2016
International audience; Objective: To determine the feasibility, reliability and validity of nails ultrasonography in psoriatic arthritis as an outcome measure.Methods: Pilot prospective single-centre study of eight ultrasonography parameters in B mode and power Doppler concerning the distal interphalangeal (DIP) joint, the matrix, the bed and nail plate. Intraobserver and inter-observer reliability was evaluated for the seven quantitative parameters (ICC and kappa). Correlations between ultrasonography and clinical variables were searched to assess external validity. Feasibility was assessed by the time to carry out the examination and the percentage of missing data.Results: Twenty-seven p…
Correlation between EGFR Amplification and the Expression of MicroRNA-200c in Primary Glioblastoma Multiforme
2014
Extensive infiltration of the surrounding healthy brain tissue is a critical feature in glioblastoma. Several miRNAs have been related to gliomagenesis, some of them related with the EGFR pathway. We have evaluated whole-genome miRNA expression profiling associated with different EGFR amplification patterns, studied by fluorescence in situ hybridization in tissue microarrays, of 30 cases of primary glioblastoma multiforme, whose clinicopathological and immunohistochemical features have also been analyzed. MicroRNA-200c showed a very significant difference between tumors having or not EGFR amplification. This microRNA plays an important role in epithelial-mesenchymal transition, but its impl…
Effects of dual task difficulty in motor and cognitive performance: Differences between adults and adolescents
2017
In the present study our aim was to compare dual-task performance in thirteen adolescents and fifteen young adults while concurrently performing a cognitive and a motor task. The postural control variables were obtained under three different conditions: i) bipedal stance, ii) tandem stance and iii) unipedal stance. The cognitive task consisted of a backward digit span test in which the participants were asked to memorize a sequence of numbers and then repeat the number in reverse order at three different difficulty levels (i.e. with 3, 4 and 5 digits). The difficulty of the cognitive task was seen to have different effects on adolescents and young adults. Adolescents seem to prioritize post…
Bone status assessed by quantitative ultrasound in children with inflammatory bowel disease: a comparison with DXA
2016
Background: To determine the bone status in children with inflammatory bowel diseases (IBD) using quantitative ultrasound (QUS) measurement at hand phalanges and compare the obtained results with dual-energy X-ray absorptiometry (DXA). Methods: Fifty-one children with IBD underwent DXA and QUS measurements at hand phalanges in the year 2013. The control group for the QUS consisted of 460 children. Reference data for DXA comes from Hologic Explorer. Results: QUS measurements did not differ significantly between IBD patients and healthy controls. There was no difference between UC and CD subjects. DXA measurements in patients with IBD were lower than in the healthy population. Tanner stage an…
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
2015
Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal coloboma…