Search results for "Base"
showing 10 items of 8362 documents
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
1998
Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical cliniclal presentation of myophos-phorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophorsphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously…
Mobile phone base stations and adverse health effects: phase 1 of a population-based, cross-sectional study in Germany
2009
Objective: The aim of this first phase of a cross-sectional study from Germany was to investigate whether proximity of residence to mobile phone base stations as well as risk perception is associated with health complaints. Methods: The researchers conducted a population-based, multi-phase, cross-sectional study within the context of a large panel survey regularly carried out by a private research institute in Germany. In the initial phase, reported on in this paper, 30 047 persons from a total of 51 444 who took part in the nationwide survey also answered questions on how mobile phone base stations affected their health. A list of 38 health complaints was used. A multiple linear regression…
Left insular cortex and left SFG underlie prismatic adaptation effects on time perception: Evidence from fMRI
2014
Prismatic adaptation (PA) has been shown to affect left-to-right spatial representations of temporal durations. A leftward aftereffect usually distorts time representation toward an underestimation, while rightward aftereffect usually results in an overestimation of temporal durations. Here, we used functional magnetic resonance imaging (fMRI) to study the neural mechanisms that underlie PA effects on time perception. Additionally, we investigated whether the effect of PA on time is transient or stable and, in the case of stability, which cortical areas are responsible of its maintenance. Functional brain images were acquired while participants (n = 17) performed a time reproduction task an…
To do or not to do? plasma exchange and timing of steroid administration in progressive multifocal leukoencephalopathy
2016
OBJECTIVE: To retrospectively analyze the effect of plasma exchange (PLEX; yes = PLEX+ , no = PLEX- ) and steroids administration timing (prophylactically [proST] or therapeutically [therST]) on the longitudinal clinical course of patients with natalizumab-related progressive multifocal leukoencephalopathy (PML) and full-blown immune reconstitution inflammatory syndrome (PML-IRIS). METHODS: Clinical and radiological data of 42 Italian patients with PML were analyzed. Patient's data are available until 12 months after PML diagnosis. PLEX and steroids treatment as time-dependent covariates were entered in: (1) a Cox model to investigate their impact on full-blown PML-IRIS latency; (2) an anal…
Towards a unified analysis of cerebellum maturation and aging across the entire lifespan: A MRI analysis
2021
[EN] Previous literature about the structural characterization of the human cerebellum is related to the context of a specific pathology or focused in a restricted age range. In fact, studies about the cerebellum maturation across the lifespan are scarce and most of them considered the cerebellum as a whole without investigating each lobule. This lack of study can be explained by the lack of both accurate segmentation methods and data availability. Fortunately, during the last years, several cerebellum segmenta- tion methods have been developed and many databases comprising subjects of dif- ferent ages have been made publically available. This fact opens an opportunity window to obtain a mo…
Opposite effects of interleukin 10 common gene polymorphisms in cardiovascular diseases and in successful ageing: genetic background of male centenar…
2004
Many aspects of ageing involve inflammatory processes. We evaluated the association with longevity of alleles of IL10 and TNFa, known to have opposite functions in inflammatory reactions, IL-10 acting predominantly as an anti-inflammatory and TNF-a as a proinflammatory factor. The number of male centenarians homozygous for the –1082G genotype, suggested to be associated with high IL-10 production, was significantly increased in comparison with younger control subjects. No significant differences were observed between women and controls. The genotypic frequencies of the TNFa promoter SNPs 308G and 308A, suggested to be associated with low and high TNF-a production respectively, were not sign…
Virtual reality treatment of flying phobia.
2002
Flying phobia (FP) might become a very incapacitating and disturbing problem in a person's social, working, and private areas. Psychological interventions based on exposure therapy have proved to be effective, but given the particular nature of this disorder they bear important limitations. Exposure therapy for FP might be excessively costly in terms of time, money, and efforts. Virtual reality (VR) overcomes these difficulties as different significant environments might be created, where the patient can interact with what he or she fears while in a totally safe and protected environment, the therapist's consulting room. This paper intends, on one hand, to show the different scenarios desig…
Genetically engineered hybrid proteins from Parietaria judaica pollen for allergen-specific immunotherapy
2006
Background Despite the use of conventional allergen-specific immunotherapy in clinical practice, more defined, efficient, and safer allergy vaccines are required. Objective The aim of the study was to obtain hypoallergenic molecules by deleting B-cell epitopes, which could potentially be applied to Parietaria judaica pollen allergy treatment. Methods Three hybrid molecules (Q1, Q2, and Q3) derived from fragments of the 2 major P judaica pollen allergens, Par j 1 and Par j 2, were engineered by means of PCR. Hybrid structures were compared with their natural components by means of circular dichroism, and their biologic activities were compared by using T-cell proliferation assays. Their IgE-…
Manifestation and ultrastructural typing of amyloid deposits in the heart
1983
Using light and electron microscopy, 65 cases of amyloid deposits in the heart were examined. Five different groups were distinguished: I. isolated atrial amyloidosis, II. senile cardiac amyloidosis, III. cardiac amyloid accompanying chronic infections and tumors, IV. cardiac amyloid accompanying plasma cell dyscrasia, V. idiopathic cardiac amyloidosis. Seen structurally, no principal differences in the precise localization of the amyloid deposits were found in any of the groups investigated. Amyloid is always deposited in the vicinity of cells with myocytic cell differentiation (i.e. the heart muscle cells, non-striated muscle cells of the vessels), whereby the relevant basement membranes …
Efficacy and acceptability of a web platform to teach nutrition education to children.
2020
Introduction: Nutrition Education (NE) has been identified as a key factor to prevent children obesity. Teachers and dietitians are the professionals in charge of transmitting this knowledge to children; however, it has been identified that they do not possess either proper training, or the proper tools to perform this activity. Objectives: to evaluate the acceptability and usability of a NE Internet platform and its two "Serious Games" (SGs) among a sample of elementary school teachers, dietitians, and education students. In addition, to evaluate the efficacy of this platform to teach NE in a sample of children aged 9 to 12 years. Methods: a total of 66 NE professionals and 135 children pa…