Search results for "Reaction"
showing 10 items of 6134 documents
Characterization of non-expressed C4 genes in a case of complete C4 deficiency: identification of a novel point mutation leading to a premature stop …
1998
The genetic basis of complete C4 deficiency in a patient with SLE was investigated. Previous studies have demonstrated that this patient has two different major histocompatibility complex (MHC) haplotypes that each contain a major deletion and a non-expressed C4 gene. In the present study, non-expression of the C4 genes was explained by the finding of two distinct C4 gene mutations. A previously described two base pair insertion in exon 29 of the C4 gene was detected in the paternal MHC haplotype [HLA-A2, B40, SC00, DR6]. The maternal haplotype [HLA-A30, B18, F1C00, DR3] carried a C4 gene with a one base pair deletion in exon 20 generating a premature stop codon. This mutation was neither f…
Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cycler system: atypical results, detection of the var…
2005
In the differential diagnosis of thrombophilic disorders genotyping of prothrombin and factor V are nowadays performed as a routine analysis. In the following we describe the unusual results of the mutation screening using melting point analysis for two patients and the consecutive detection of the mutation C20209T by sequencing the corresponding gene fragments. The molecular result is discussed with special respect to the medical history, ethnic background and clinical findings of both patients.
C- and Aδ-fiber components of heat-evoked cerebral potentials in healthy human subjects
1999
Feedback-controlled laser heat was used to stimulate the hairy skin of the hand dorsum and forearm, and heat-evoked cerebral potentials were recorded at midline (Fz, Cz, Pz) and temporal (T3, T4) scalp positions. Based on data from primary afferent electrophysiology a stimulus level (40 degrees C) was chosen, which is above C-fiber heat threshold, but clearly below A delta-nociceptor heat threshold in order to excite selectively C-fibers without concomitant excitation of A delta-fibers. Feedback-controlled stepped heat stimuli to 40 degrees C elicited ultralate laser evoked potentials (LEPs) at the vertex in a high proportion of experiments (90%). Estimates of conduction velocity calculated…
Natural history of cytomegalovirus infection in a series of patients diagnosed with moderate-severe ulcerative colitis
2011
AIM: To evaluate the natural history of human cytomegalovirus (HCMV) infection in a series of 28 ulcerative colitis patients in whom the search for HCMV was positive. METHODS: A series of 85 patients with moderate-severe ulcerative colitis flare-up were evaluated for a HCMV search by performing a haematoxylin and eosin stain, immunohistochemical assay and nested polymerase chain reaction on rectal biopsies. Among 85 screened patients (19 of whom were steroid resistant/dependant), 28 were positive for HCMV; after remission the patients were followed up clinically and histologically. RESULTS: Among the 22 patients with complete follow-up, in 8 (36%) patients HCMV-DNA persisted in the intestin…
Influence of stimulus color on the control of reaching-grasping movements.
2001
This kinematic study aimed to determine whether color is a stimulus property involved in the control of reaching-grasping movements. Subjects reached and grasped a target-object, located either on the right or on the left of the subject's midline. A distractor, placed along the subject's midline, could be randomly presented. The colors, i.e., both chromaticity (red and green stimuli were presented) and lightness, of the target and distractor were varied in experiment 1. Only stimulus lightness and only stimulus chromaticity were varied in experiments 2 and 3, respectively. In experiment 4 subjects matched with their thumb and index finger the size of the target-stimuli presented in experime…
Visual distractors differentially interfere with the reaching and grasping components of prehension movements
1998
In the present study we addressed the issue of how an object is visually isolated from surrounding cues when a reaching-grasping (prehension) movement towards it is planned. Subjects were required to reach and grasp an object presented either alone or with a distractor. In five experiments, different degrees of elaboration of the distractor were induced by varying: (1) the position of the distractor (central or peripheral); (2) the time when the distractor was suppressed (immediately or delayed, with respect to stimulus presentation); and (3) the type of distractor analysis (implicit or explicit). In addition, we tested whether the possible effects of the distractor on reaching-grasping wer…
Configural information in gender categorisation.
2006
International audience; The role of configural information in gender categorisation was Studied by aligning the top half of one face with the bottom half of another. The two faces had the same or different genders. Experiment I shows that participants were slower and made more errors in categorising the gender in either half of these composite faces when the two faces had a different gender, relative to control conditions where the two faces were nonaligned or had the same gender. This result parallels the composite effect for face recognition (Young et al. 1987 Perception 16 747 - 759) and facial-expression recognition (Calder et al. 2000 Journal of Experimental Psychology: Human Perceptio…
Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other k…
1998
Analysis of an abnormal C1q molecule of individuals of a Moroccan family by ultracentrifugation in sucrose gradients revealed a low molecular weight C1q (LMW-C1q). We investigated the molecular basis of this defect by sequencing all six exons of the three C1q genes. One point mutation in the codon for Gly at position 15 (GGT) of the B chain was found resulting in an amino acid substitution to Asp (GAT). The exchange not only leads to an interruption of the collagen-like motif Gly-X-Y, but also introduces one negatively charged residue per B chain which results in two additional charges per structural subunit (A-B, C-C, A-B). The mutation which has been identified by DNA-sequencing in the C1…
Differential association of polymorphisms in the TNFalpha region with psoriatic arthritis but not psoriasis.
2002
To investigate the potential association of tumour necrosis factor alpha (TNFalpha) microsatellite and promoter alleles with psoriatic arthritis (PsA).DNA from 89 white patients with PsA, 65 patients with psoriasis, and 99 healthy white controls was investigated for two TNFalpha promoter (-238 and -308) and three microsatellite polymorphisms (TNFa, c, and d). Patients had previously been studied by serology for HLA class I antigens and by sequence-specific polymerase chain reaction for DRB1* alleles. In addition, TNFalpha production of Ficoll separated peripheral blood mononuclear cells (PBMC) into culture supernatants after stimulation with lipopolysaccharide, alphaCD3 antibodies, phytohae…
Preferential splenic CD8+ T-cell activation in rituximab-nonresponder patients with immune thrombocytopenia
2013
The pathogenic role of B cells in immune thrombocytopenia (ITP) has justified the therapeutic use of anti-CD20 antibodies such as rituximab (RTX). However, 60% of ITP patients do not respond to RTX. To decipher the mechanisms implicated in the failure of RTX, and because the spleen plays a well-recognized role in ITP pathogenesis, 12 spleens from ITP patients who had been nonresponders to RTX therapy were compared with 11 spleens from RTX-untreated ITP patients and 9 controls. We here demonstrate that in RTX-nonresponder ITP patients, preferential Th1 and Tc1 T lymphocyte polarizations occur, associated with an increase in splenic effector memory CD8(+) T-cell frequency. Moreover, in the RT…