Search results for "POINT"
showing 10 items of 4385 documents
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
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…
Increased risk for venous thrombosis in carriers of the prothrombin G→A20210 gene variant
1998
A mutation in the prothrombin gene (G--A20210) has been associated with higher plasma prothrombin levels and an increased tendency for venous thrombosis.To determine whether the prothrombin A20210 allele is independently associated with the occurrence of venous thrombosis.Case-control study.Two thrombosis centers in southern Italy.281 consecutive patients with venous thrombosis confirmed by objective tests and 850 controls.Medical history was collected on standardized questionnaires. The presence of prothrombin G--A2020 and factor V Leiden mutations was determined by polymerase chain reaction. The presence of anticoagulant factors and prothrombin activity was determined by tests of function…
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.
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…
Relative and absolute socioeconomic inequality in smoking: time trends in Germany from 1995 to 2013
2020
Abstract Purpose This study aimed to investigate time trends in relative and absolute socioeconomic inequality in smoking prevalence in Germany using several indicators for socioeconomic position. Methods We conducted a repeated cross-sectional study using representative samples of the German population aged between 25 and 64 years in 1995, 1999, 2005, 2009, and 2013 (n = 857,264). Socioeconomic position was measured by indicators for income, education, and occupation. Relative and absolute socioeconomic inequalities were estimated with the regression-based relative index of inequality and the slope index of inequality, respectively. Trends in inequalities were estimated with interaction te…
Instantaneous Transfer Entropy for the Study of Cardiovascular and Cardio-Respiratory Nonstationary Dynamics
2017
Objective: Measures of transfer entropy (TE) quantify the direction and strength of coupling between two complex systems. Standard approaches assume stationarity of the observations, and therefore are unable to track time-varying changes in nonlinear information transfer with high temporal resolution. In this study, we aim to define and validate novel instantaneous measures of TE to provide an improved assessment of complex nonstationary cardiorespiratory interactions. Methods: We here propose a novel instantaneous point-process TE (ipTE) and validate its assessment as applied to cardiovascular and cardiorespiratory dynamics. In particular, heartbeat and respiratory dynamics are characteriz…
Visual illusions and the control of children arm movements.
2001
The aim of the present study was to determine whether children like adults (Gentilucci M, Chieffi S, Daprati E, Saetti MC, Toni I. Visual illusion and action. Neuropsychologia 1996;34:369-76; Gentilucci M, Daprati E, Gangitano M, Toni I. Eye position tunes the contribution of allocentric and egocentric information to target localisation in human goal directed arm movements. Neurosci Lett 1997;222:123-6) are influenced by visual illusions when they transform visual information in motor command. Children and adults pointed to a shaft extremity of the Müller-Lyer configurations, as well as to an extremity of a control configuration. Movements were executed in two experimental conditions. In th…
In-Vivo Estimation and Repeatability of Force-Length Relationship and Stiffness of the Human Achilles Tendon using Phase Contrast MRI
2008
Purpose To devise a method using velocity encoded phase contrast MRI and MR-compatible dynamometry, for in vivo estimation of elastic properties of the human Achilles tendon and to assess within-session and day-to-day repeatability of this technique. Materials and Methods Achilles tendon force and calcaneus-movement-adjusted displacement were measured during a submaximal isometric plantarflexion in 4 healthy subjects, four repeated trials each. The measured force-length (F-L) relationship was least-squares fitted to a cubic polynomial. Typical error was calculated for tendon displacement at multiple force levels, stiffness from the “linear region,” and transition point from the displacement…
Integration of cognitive allocentric information in visuospatial short-term memory through the hippocampus
2005
Visuospatial short-term memory relies on a widely distributed neocortical network: some areas support the encoding process of the visually acquired spatial information, whereas other ares are more involved in the active maintenance of the encoded information. Recently, in a pointing to remembered targets task, it has been shown in healthy subjects that, for memory delays of 5 s, spatial errors are affected also by cognitive allocentric information, i.e., covert spatial information derived from a pure mental representation. We tested the effect of a lesion of the hippocampus on the accuracy of pointing movements toward remembered targets, with memory delays falling in the 0.5-30 s range. The…