Search results for "Normal"
showing 10 items of 2571 documents
Indication of a common origin of German and American Families with Familial Amyloidneuropathy Typ II
1999
Abstract The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 mutations of the transthyretin gene have been found to be responsible for different clinical forms of amyloidosis including familial FAP.FAP II is caused by a mutation on the codon 58 of the transthyretin gene. Only two american kindreds (the Maryland/German and the Ohio family) have previously been reported with FAP II starting in the 3rd or 4th decade by sensory disturbances of the hands typically as a carpal tunnel syndrome. We report on a german family with FAP II from the rhine river area south of Mainz. Four members with typical …
Novel <b><i>VANGL1</i></b> Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects
2012
Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system occurring at an average rate of 1 per 1,000 human pregnancies worldwide. Numerous genetic and environmental factors are discussed to be relevant in their etiology. In mice, mutants in >200 genes including the planar cell polarity (PCP) pathway are known to cause NTDs, and recently, heterozygous mutations in the human <i>VANGL1</i> gene have been described in a small subset of patients with NTDs. We performed a <i>VANGL1</i> mutation analysis in 144 unrelated individuals with NTDs from Slovakia, Romania and Germany and identified 3 heterozygous missense mutations: c.613…
Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System
2015
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as laminopathies. In detail, HGPS manifests a severe premature ageing phenotype due to the accumulation of a dominant negative form of lamin-A called progerin. With current treatments, the life expectancy of HGPS patients does not exceed their second decade. Death is usually due to cardiovascular complications. Recently, a new technology for mammals in vivo gene editing has been developed: the clustered regularly interspaced short palindromic …
αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family
1985
The presence of the αααanti-4.2 haplotype and heterozygous β° thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (−α4.2) and indicate that this may not be rare. Furthermore, although the β thalassemia determinant in this family has a severe expression, the interaction with the triplicated α gene does not necessarily express itself as thalassemia intermedia.
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
2015
Hearing loss and individual differences in normal hearing both have a substantial genetic basis. Although many new genes contributing to deafness have been identified, very little is known about genes/variants modulating the normal range of hearing ability. To fill this gap, we performed a two-stage meta-analysis on hearing thresholds (tested at 0.25, 0.5, 1, 2, 4, 8 kHz) and on pure-tone averages (low-, medium-and high-frequency thresholds grouped) in several isolated populations from Italy and Central Asia (total N = 2636). Here, we detected two genome-wide significant loci close to PCDH20 and SLC28A3 (top hits: rs78043697, P = 4.71E-10 and rs7032430, P = 2.39E-09, respectively). For both…
Structural integrity of the corpus callosum predicts long-term transfer of fluid intelligence-related training gains in normal aging
2012
Although cognitive training usually improves cognitive test performance, the capability to transfer these training gains into respective or functionally related cognitive domains varies significantly. Since most studies demonstrate rather limited transfer effects in older adults, aging might be an important factor in transfer capability differences. This study investigated the transfer capability of logical reasoning training gains to a measure of Fluid Intelligence (Gf) in relation to age, general intelligence, and brain structural integrity as measured by diffusion tensor imaging. In a group of 41 highly educated healthy elderly, 71% demonstrated successful transfer immediately after a 4-…
Reconfigurations in sustainability transitions : a systematic and critical review
2021
Two streams of literature have become especially prominent in understanding social change toward sustainability within the past decades: the research on socio-technical transitions and applications of social practice theory. The aim of this article is to contribute to efforts to create dialogue between these two approaches. We do this by focusing on the concept of reconfiguration, which has become a much-used, but poorly defined notion in the discussion on sustainability transitions. To understand what is defined as reconfiguration in systems and practices, and how the understanding of reconfiguration in regimes could benefit from insights about reconfiguration in practices, we conducted a …
Soil Moisture Retrieved From a Combined Optical and Passive Microwave Approach
2016
Abstract With the current remote sensing technology developments, and in particular those at L-band (1.2–1.4 GHz) frequencies such as the Soil Moisture and Ocean Salinity and the Soil Moisture Active and Passive missions, new approaches concerning passive microwave and its combination with existing optical technologies have become of special interest for the estimation of surface soil moisture. One of these new approaches is the combination of optical and passive microwave data based on a semiempirical approach derived from the general radiative transfer equation. The objective of this chapter is to present some applications of the combined optical-passive microwave approaches over several …
Development of the One Centimeter Accuracy Geoid Model of Latvia for GNSS Measurements
2015
There is an urgent necessity for a highly accurate and reliable geoid model to enable prompt determination of normal height with the use of GNSS coordinate determination due to the high precision requirements in geodesy, building and high precision road construction development. Additionally, the Latvian height system is in the process of transition from BAS- 77 (Baltic Height System) to EVRS2007 system. The accuracy of the geoid model must approach the precision of about ~1 cm looking forward to the Baltic Rail and other big projects. The use of all the available and verified data sources is planned, including the use of enlarged set of GNSS/levelling data, gravimetric measurement data and…
CloudSim: A fair benchmark for comparison of methods for times series reconstruction from cloud and atmospheric contamination
2015
Cloud contamination of optical data is a constant and annoying feature of time series analyses, whether while using vegetation indices or surface temperatures, since it tends to decrease artificially the values taken by these parameters. Therefore, any time series analysis of optical data needs a previous step for gap-filling reconstruction of the time series. Numerous techniques have been presented in the literature to carry out this preliminary and mandatory step. However, the evaluation and comparison of these techniques is difficult, since no “truth” time series is available. We present here a probabilistic model (CloudSim) to provide global typical annual time series for NDVI (Normaliz…