115 research outputs found
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours
The genes encoding Caspase-9 and DFF45 have both recently been mapped to chromosome region 1p36.2, that is a region alleged to involve one or several tumour suppressor genes in neuroblastoma tumours. This study presents an update contig of the ‘Smallest Region of Overlap of deletions’ in Scandinavian neuroblastoma tumours and suggests that DFF45 is localized in the region. The genomic organization of the human DFF45 gene, deduced by in-silico comparisons of DNA sequences, is described for the first time in this paper. In the present study 44 primary tumours were screened for mutation by analysis of the genomic sequences of the genes. In two out of the 44 tumours this detected in the DFFA gene one rare allele variant that caused a non-polar to a polar amino acid exchange in a preserved hydrophobic patch of DFF45. One case was hemizygous due to deletion of the more common allele of this polymorphism. Out of 194 normal control alleles only one was found to carry this variant allele, so in respect of it, no healthy control individual out of 97 was homozygous. Moreover, our RT–PCR expression studies showed that DFF45 is preferably expressed in low-stage neuroblastoma tumours and to a lesser degree in high-stage neuroblastomas. We conclude that although coding mutations of Caspase-9 and DFF45 are infrequent in neuroblastoma tumours, our discovery of a rare allele in two neuroblastoma cases should be taken to warrant further studies of the role of DFF45 in neuroblastoma genetics
Analyzing Zero Returns to Education in Germany: Heterogeneous Effects and Skill Formation
Dry and Humid Periods Reconstructed from Tree Rings in the Former Territory of Sogdiana (Central Asia) and Their Socio-economic Consequences over the Last Millennium
One of the richest societies along the Silk Road developed in Sogdiana,
located in present-day Tajikistan, Uzbekistan, and Kyrgyzstan. This urban civilisation
reached its greatest prosperity during the golden age of the Silk Road (sixth to
ninth century ce). Rapid political and economic changes, accelerated by climatic
variations, were observed during last millennium in this region. The newly developed
tree-ring-based reconstruction of precipitation for the pastmillennium revealed
a series of dry and wet stages. During the Medieval Climate Anomaly (MCA), two
dry periods occurred (900–1000 and 1200–1250), interrupted by a phase of wetter
conditions. Distinct dry periods occurred around 1510–1650, 1750–1850, and
1920–1970, respectively. The juniper tree-ring record of moisture changes revealed
that major dry and pluvial episodes were consistent with those indicated by hydroclimatic
proxy data from adjacent areas. These climate fluctuations have had longand
short term consequences for human history in the territory of former Sogdiana
Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device
This study aimed to validate a wearable device’s walking speed estimation pipeline, considering complexity, speed, and walking bout duration. The goal was to provide recommendations on the use of wearable devices for real-world mobility analysis. Participants with Parkinson’s Disease, Multiple Sclerosis, Proximal Femoral Fracture, Chronic Obstructive Pulmonary Disease, Congestive Heart Failure, and healthy older adults (n = 97) were monitored in the laboratory and the real-world (2.5 h), using a lower back wearable device. Two walking speed estimation pipelines were validated across 4408/1298 (2.5 h/laboratory) detected walking bouts, compared to 4620/1365 bouts detected by a multi-sensor reference system. In the laboratory, the mean absolute error (MAE) and mean relative error (MRE) for walking speed estimation ranged from 0.06 to 0.12 m/s and − 2.1 to 14.4%, with ICCs (Intraclass correlation coefficients) between good (0.79) and excellent (0.91). Real-world MAE ranged from 0.09 to 0.13, MARE from 1.3 to 22.7%, with ICCs indicating moderate (0.57) to good (0.88) agreement. Lower errors were observed for cohorts without major gait impairments, less complex tasks, and longer walking bouts. The analytical pipelines demonstrated moderate to good accuracy in estimating walking speed. Accuracy depended on confounding factors, emphasizing the need for robust technical validation before clinical application.
Trial registration: ISRCTN – 12246987
Recommended from our members
Measurements of atmospheric electricity aloft
Measurements of the electrical characteristics of the atmosphere above the surface have been made for over 200 years, from a variety of different platforms, including kites, balloons, rockets and aircraft. From these measurements, a great deal of information about the electrical characteristics of the atmosphere has been gained, assisting our understanding of the global atmospheric electric circuit, thunderstorm electrification and lightning generation mechanisms, discovery of transient luminous events above thunderstorms, and many other electrical phenomena. This paper surveys the history of atmospheric electrical measurements aloft, from the earliest manned balloon ascents to current day observations with free balloons and aircraft. Measurements of atmospheric electrical parameters in a range of meteorological conditions are described, including clear air conditions, polluted conditions, non-thunderstorm clouds, and thunderstorm clouds, spanning a range of atmospheric conditions, from fair weather, to the most electrically active
Universal features in the electrical conductivity of icosahedral Al-transition-metal quasicrystals
Ammoniation of straw by urea: extent of ureolysis and improvement of nutritive value with moderate water addition
International audienc
- …