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Infantile malignant osteopetrosis (IMO) is caused by lack of functional osteoclasts leading to skeletal abnormalities, blindness due to compression of the optic nerves, bone marrow (BM) failure and early death. In most patients TCIRG1, a proton pump subunit essential for bone resorption, is mutated. Oc/oc mice represent a model for IMO due to a deletion in Tcirg1 and die around 4 weeks. To determi
This systematic review was designed to provide more precise effect estimates of inhibitor development for the various types of F8 gene mutations in patients with severe hemophilia A. The primary outcome was inhibitor development and the secondary outcome was high-titer-inhibitor development. Asystematic literature search was performed to include cohort studies published in peer-reviewed journals w
Impaired interatrial conduction or interatrial block is well documented but is not described as an individual electrocardiographic (ECG) pattern in most of ECG books, although the term atrial abnormalities to encompass both concepts, left atrial enlargement (LAE) and interatrial block, has been coined. In fact, LAE and interatrial block are often associated, similarly to what happens with ventricu
Background: Survival of people with HIV-2 and HTLV-1 infection is better than that of HIV-1 infected people, but long-term follow-up data are rare. We compared mortality rates of HIV-1, HIV-2, and HTLV-1 infected subjects with those of retrovirus-uninfected people in a rural community in Guinea-Bissau. Methods: In 1990, 1997 and 2007, adult residents (aged >= 15 years) were interviewed, a blood sa
We present an efficient photon-echo experiment based on atomic frequency combs [Phys. Rev. A 79 (2009) 052329]. Echoes containing an energy of up to 35% of that of the input pulse are observed in a Pr3+ -doped Y2SiO5 crystal. This material allows for the precise spectral holeburning needed to make a sharp and highly absorbing comb structure. We compare our results with a simple theoretical model w
Background: Increasing obesity in adults with mobility disability has become a considerable health problem, similar to the increasing trend of obesity in the general population. The aims of this study were to investigate the association of mobility disability with overweight status and obesity in a large population-based Swedish cohort of adults, and to investigate whether mobility disability, hig
Objectives: To investigate whether low self-rated health (SRH) is associated with increased mortality in individuals with diabetes. Design: Population-based prospective cohort study. Setting: Enrolment took place between 1992 and 2000 in four centres (Bilthoven, Heidelberg, Potsdam, Umea) in a subcohort nested in the European Prospective Investigation into Cancer and Nutrition. Participants: 3257
This study compared neck range of movement recording using three different methods goniometers (EGM), inclinometers (INC) and a three-dimensional video analysis system (IMG) in simultaneous and synchronized data collection. Twelve females performed neck flexion-extension, lateral flexion, rotation and circumduction. The differences between EGM, INC, and IMG were calculated sample by sample. For fl
Objective. Studies in mice suggest that plasma apoM is lowered in hyperinsulinaemic diabetes and that apoM stimulates formation of pre-beta-HDL. Pre-beta-HDL is an acceptor of cellular cholesterol and may be critical for reverse cholesterol transport. Herein, we examined whether patients with type 2 diabetes have reduced plasma apoM and whether apoM is associated with pre-beta-HDL formation and ce
Silica-filled poly(1-trimethylsilyl-1-propyne) (PTMSP) layers were successfully applied for the first time on top of ultrafiltration support membranes and applied in the pervaporative separation of ethanol/water mixtures. Reduction of the thickness of the separating PTMSP top layer and addition of hydrophobic silica particles resulted in a clear flux increase as compared to dense PTMSP membranes.
The adsorption of N2O on Ir(110) was investigated with high-resolution resonant photoemission at 135 K. The results obtained show evidence of molecular adsorption of N2O, along with some dissociation. It is found that the nitrogen photoemission spectra measured at the terminal and central nitrogen energy positions of the N2O/Ir(110) system are equivalent to those of N2O in the gas phase. In contra
Compared to monolingual first language acquisition (L1) and adult second language acquisition (aL2), relatively little research has been done on child second language acquisition (cL2). This is an unsatisfactory situation from both a practical and a theoretical point of view. The present study concerns cL2 acquisition of French and poses the question whether cL2 acquisition bears closer resemblanc
Angle-resolved resonant Auger-electron spectroscopy has been carried out on the nitrogen molecule at selected photon energies around 419 eV, where a 1s core electron and two valence electrons are promoted into the lowest unoccupied molecular orbital 1pi(g). Significant enhancement of a specific band, which cannot be disentangled in direct photoionization, is observed at a binding energy of 37.6 eV
According to IPCC reports, global climate change is likely to be accompanied by a greater frequency, intensity, and duration of heat waves in urban areas. This is related to predicted and ongoing variation of atmospheric temperature and its association with the dynamical evolution of cities. Changes in the roughness pattern of the surface, wind intensity, soil available humidity and radiative prop
Neural stem cell populations generate a wide spectrum of neuronal and glial cell types in a highly ordered fashion. MicroRNAs are essential regulators of this process. T-UCstem1 is a long non-coding RNA containing an ultraconserved element, and in vitro analyses in pluripotent stem cells provided evidence that it regulates the balance between proliferation and differentiation. Here we investigate
Excited states in 59Zn were observed for the first time following the fusion-evaporation reaction 24Mg + 40Ca at a beam energy of 60 MeV. The GASP array in conjunction with the ISIS Silicon ball and the NeutronRing allowed for the detection of n-rays in coincidence with evaporated light particles. The mirror symmetry of 59Zn and 59Cu is discussed.
The Augmented Reality (AR) concept has excited visionaries and researchers for decades, and finally its enabling technologies are beginning to materialize on consumer-grade mobile devices. The availability of powerful mobile computing platforms combined with fast mobile Internet access, opens the door to ‘solid’ visual/auditory augmentation of the world with geo-spatial knowledge, distilled from
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