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Purpose: The FANCM c.5101C>T nonsense mutation was previously found to associate with breast cancer in the Finnish population, especially among triple-negative cases. Here, we studied the prevalence of three other FANCM variants: c.5791C>T, which has been reported to predispose to familial breast cancer, and the c.4025_4026delCT and c.5293dupA variants recently identified in Finnish cancer patient

Pigment epithelium derived factor (PEDF), a ubiquitously expressed 50 kDa secreted glycoprotein, was recently discovered to regulate self-renewal of neural stem cells and have a supportive effect on human embryonic stem cell growth. Here, we analyzed expression of PEDF in the murine hematopoietic stem cell (HSC) compartments and found that PEDF is highly expressed in primary long-term HSCs. Theref

The intramedullary skeletal kinetic distractor (ISKD) is one of the relatively recent methods developed to overcome the complications of conventional bone lengthening methods, such as external fixators. These complications include pain, muscle transfixation, pin-tract infection, reduced joint motion, and prolonged fixation time. However, ISKD-specific complications such as uncontrollable lengtheni

An arabinose specific xylanase from glycoside hydrolase family 5 (GH5) was used to hydrolyse wheat and rye arabinoxylan, and the product profile showed that it produced arabinose substituted oligosaccharides (AXOS) having 2-10 xylose residues in the main chain but no unsubstituted xylooligosaccharides (XOS). Molecular modelling showed that the active site has an open structure and that the hydroxy

The adult frog dorsal root ganglia (DRGs) and their sciatic nerves (ScN) survive in organ culture for several days. About 3 days after a local test crush, the sensory axons start to regenerate into the distal nerve stump at a rate of approximately 0.6-0.9 mm/day. The axonal outgrowth is inhibited in a non-toxic way by low concentrations of three different phospholipase A2 (PLA2) inhibitors: 4-brom

During amino acid starvation the Escherichia coli stringent response factor RelA recognizes deacylated tRNA in the ribosomal A-site. This interaction activates RelA-mediated synthesis of alarmone nucleotides pppGpp and ppGpp, collectively referred to as (p)ppGpp. These two alarmones are synthesized by addition of a pyrophosphate moiety to the 3 position of the abundant cellular nucleotide GTP and

Climate change and direct anthropogenic impact are recognized as two major factors affecting catchment runoff. This study investigated the separate effect of each of these factors for runoff from the important Tunisian Merguellil catchment. For this purpose, more than forty years of hydrological data were used. The methodology was based on hydrological characterization, NDVI index to monitor land

Background: Living with undiagnosed symptomatic coeliac disease is connected with deteriorated health, and persons with coeliac disease often wait a long time for their diagnosis. A mass screening would lower the delay, but its cost-effectiveness is still unclear. Our aim was to determine the cost-effectiveness of a coeliac disease mass screening at 12 years of age, taking a life course perspectiv

Standing postural stability relies on input from visual, vestibular, proprioceptive and mechanoreceptive sensors. When the information from any of these sensors is unavailable or disrupted, the central nervous system maintains postural stability by relying more on the contribution from the reliable sensors, termed sensory re-weighting. Alcohol intoxication is known to affect the integrity of the v

The value-belief-norm (VBN) theory has been widely used to describe pro-sustainability behavior. Despite being used to examine issues of sustainable and public transport behavior, research using the VBN has largely overlooked the pro-environmental behavior of cyclists and walkers, which is extremely significant given the role of active transport in environmental and human health. Therefore, this s

Background and study aims Surgical resection is standard treatment of T2 rectal cancer due to risk of concomitant lymph node metastases (LNM). Local resection could potentially be an alternative to surgical treatment in a subgroup of patients with low risk of LNM. The aim of this study was to identify clinical and histopathological risk factors of LNM in T2 rectal cancer. Patients and methods This

AimsAtrial septal defects (ASDs) lead to volume-loaded right ventricles (RVs). ASD closure does not always alleviate symptoms or improve exercise capacity, which is possibly explained by impaired left ventricular (LV) haemodynamics. This study evaluated the effect of ASD closure in children using non-invasive LV pressure–volume (PV) loops derived from cardiac magnetic resonance (CMR) imaging and b

Usually the mel-frequency cepstral coefficients (MFCCs) are derived via Hamming windowed DFT spectrum. In this paper, we advocate to use a so-called multitaper method instead. Multitaper methods form a spectrum estimate using multiple window functions and frequency-domain averaging. Multitapers provide a robust spectrum estimate but have not received much attention in speech processing. Our speake

Study Design Controlled laboratory study; cross-sectional. Background Postural control following anterior cruciate ligament reconstruction (ACLR) primarily has been investigated during static single-leg balance tasks. Little is known about dynamic postural control deficits post-ACLR. Objectives To compare dynamic postural control (bilaterally) in persons who have undergone ACLR and healthy control