3,697 research outputs found
Changing from a Hologic to a Lunar bone densitometer: effect on BMD and precision error.
No full textLinkage to chromosome 11p12 in two Maltese families with a highly penetrant form of osteoporosis
No full textOsteoporosis is a metabolic bone disease with a strong genetic component. Family-based linkage studies were performed by a number of investigators to try to identify loci that might contain genes responsible for an increased susceptibility to osteoporosis. A whole-genome linkage scan using 400 microsatellite markers was performed in 27 members from two Maltese families with a highly penetrant form of osteoporosis. The phenotype was defined by lumbar and femoral z-scores calculated after measurement of bone mineral density by DEXA. Both males and females were among the affected individuals. Multipoint parametric and non-parametric linkage analyses were performed by EasyLinkage v4.01 using GENEHUNTER v2.1, assuming dominant and recessive modes of inheritance with variable penetrance. Evidence of linkage was observed to a marker at 11p12 where a non-parametric LOD score of 5.77 (P¼0.0006) was obtained. A maximum heterogeneity LOD score of 2.55 for this region was obtained for the dominant mode of inheritance with 90% penetrance and a phenocopy rate of 1%. Following fine mapping, the critical interval was narrowed to a region that is 52.94cM from 11p-telomere. In this region, the gene for tumour necrosis factor receptor-associated factor 6 (TRAF6) is located approximately 1 cM away from the indicated marker. Sequencing of the promoter region and exons of the TRAF6 gene revealed three sequence variants, one of which was found in three affected members within one family.peer-reviewe
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
No full textFGF-23, a novel member of the FGF family, is the product of the gene mutated in autosomal dominant hypophosphatemic rickets (ADHR). FGF-23 has been proposed as a circulating factor causing renal phosphate wasting not only in ADHR (as a result of inadequate degradation), but also in tumor-induced osteomalacia (as a result of excess synthesis by tumor cells). Renal phosphate wasting occurs in approximately 50% of patients with McCune-Albright syndrome (MAS) and fibrous dysplasia of bone (FD), which result from postzygotic mutations of the GNAS1 gene. We found that FGF-23 is produced by normal and FD osteoprogenitors and bone-forming cells in vivo and in vitro. In situ hybridization analysis of FGF-23 mRNA expression identified "fibrous" cells, osteogenic cells, and cells associated with microvascular walls as specific cellular sources of FGF-23 in FD. Serum levels of FGF-23 were increased in FD/MAS patients compared with normal age-matched controls and significantly higher in FD/MAS patients with renal phosphate wasting compared with those without, and correlated with disease burden bone turnover markers commonly used to assess disease activity. Production of FGF-23 by FD tissue may play an important role in the renal phosphate-wasting syndrome associated with FD/MAS
Self-compression of 4.9 µm pulses to sub-40 fs with 2 mJ energy in Zinc Sulfide
No full textNonlinear self-compression of few-cycle multi-mJ pulses at 4.9 µm in ZnS is presented. 80 fs input pulses are compressed to 37 fs with 2.1 mJ energy at a 1 kHz repetition rate. © 2024 The Author(s
Correction to: Chamoun et al., Bacterial pathogenesis and interleukin-17: interconnecting mechanisms of immune regulation, host genetics, and microbial virulence that influence severity of infection
No full textChamoun MN, Blumenthal A, Sullivan MJ, Schembri MA, Ulett GC. 2018. Bacterial pathogenesis and interleukin-17: interconnecting mechanisms of immune regulation, host genetics, and microbial virulence that influence severity of infection. Critical Reviews in Microbiology. https://doi.org/10.1080/1040841X.2018.1426556.
When the above article was first published online, the below three corrections were missed.
The author ‘Antje Blumenthal’ was wrongly affiliated to the affiliation “cSchool of Chemistry and Molecular Biosciences, and Australian Infectious Disease Research Centre, The University of Queensland, Brisbane, Australia”. Now this affiliation has been removed for this author.
The affiliation ‘bTranslational Research Institute, The University of Queensland Diamantina Institute, Woolloongabba, Australia’ of the author ‘Antje Blumenthal’ should read ‘bThe University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Australia’.
In Table 3, the sentence ‘Benefit of manipulating IL-17 levels to improve immunization strategies M. tuberculosis’ should read “Benefit of manipulating IL-17 levels to improve immunization strategies against M. tuberculosis”.No Full Tex
Generation of 22-mJ, 2.0-ps Pulses from a 1-kHz Ho:YLF Regenerative Chirped Pulse Amplifier
No full textWe report a CW-pumped Ho:YLF regenerative amplifier (RA) delivering pulses with 22.5-mJ energy and 2.0-ps duration at 1 kHz. The RA emitting at 2051 nm is broadband-seeded and implemented in a chirped pulse amplification system. © 2024 The Author(s
Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.
No full textAutosomal dominant osteopetrosis type II (ADO2) is a heritable osteosclerotic disorder dependent on osteoclast impairment. In most patients it results from heterozygous missense mutations in the chloride channel 7 (CLCN7) gene, encoding for a 2Cl(-)/1H(+) antiporter. By a knock-in strategy inserting a missense mutation in the Clcn7 gene, our two research groups independently generated mouse models of ADO2 on different genetic backgrounds carrying the homolog of the most frequent heterozygous mutation (p.G213R) in the Clcn7 gene found in humans. Our results demonstrate that the heterozygous model holds true presenting with higher bone mass, increased numbers of poorly resorbing osteoclasts and a lethal phenotype in the homozygous state. Considerable variability is observed in the heterozygous mice according with the mouse background, suggesting that modifier genes could influence the penetrance of the disease gene. (C) 2013 Elsevier Inc. All rights reserved
Pure-rotational 1D-CARS spatiotemporal thermometry with a single regenerative amplifier system
No full textWe report spatiotemporal pure-rotational coherent anti-Stokes Raman spectroscopy (CARS) in a one-dimensional imaging arrangement obtained with a single ultrafast regenerative amplifier system. The femtosecond pump/Stokes photon pairs, used for impulsive excitation, are delivered by an external compressor operating on a ∼35% beam split of the uncompressed amplifier output (2.5 mJ/pulse). The picosecond 1.2 mJ probe pulse is produced via the second-harmonic bandwidth compression (SHBC) of the ∼65% remainder of the amplifier output (4.5 mJ/pulse), which originates from the internal compressor. The two pump/Stokes and probe pulses are spatially, temporally, and repetition-wise correlated at the measurement, and the signal generation plane is relayed by a wide-field coherent imaging spectrometer onto the detector plane, which is refreshed at the same repetition rate as the ultrafast regenerative amplifier system. We demonstrate 1 kHz cinematographic 1D-CARS gas-phase thermometry across an unstable premixed methane/air flame-front, achieved with a single-shot precision <1% and accuracy <3%, 1.4 mm field of view, and an excellent <20 µm line-spread function.Green Open Access added to TU Delft Institutional Repository ‘You share, we take care!’ – Taverne project https://www.openaccess.nl/en/you-share-we-take-care Otherwise as indicated in the copyright section: the publisher is the copyright holder of this work and the author uses the Dutch legislation to make this work public.Flight Performance and Propulsio
Project: Establishing an accounting outsourcing company "MJ Grāmatvedība" Ltd
No full textProjekta ideja ir izveidot grāmatvedības ārpakalpojumu uzņēmumu SIA „MJ Grāmatvedība”, kurš sniegtu pilna vai daļēja cikla grāmatvedības pakalpojumus, sākot ar pirmreizējo dokumentu apstrādi un beidzot ar visu nepieciešamo atskaišu sagatavošanu, kā arī konsultāciju sniegšanu. Projekta mērķis ir ne tikai sniegt grāmatvedības pakalpojumus, bet arī analizēt uzņēmumu darbību un izstrādāt ieteikumus darbības uzlabošanai. Darba autore uzskata, ka nozares pārstāvjiem ir būtiski jāpierāda sava nozīme un to kādam jābūt mūsdienu grāmatvedim. Grāmatvedis nav tikai persona, kura izdara konkrētus darbus, nodos atskaites, tas ir cilvēks, kuram labi jāpārzina nodokļu sistēma, finanšu vadīšana, jāspēj sniegt padomus uzņēmuma finanšu vadības uzlabošanai, kā arī jāspēj pielāgoties tehnoloģiju radītajām izmaiņām. Maģistra darbs apjoms ir uz 105 lappusēm, kas sastāv no 7 nodaļām, 17 pielikumiem, 22 tabulām un 7 attēliem. Darba izstrādē izmantoti 70 informācijas avoti.The general project idea is to establish the accountancy firm MJ Accountancy Ltd., which would provide full or half-cycle accountancy services including the processing of primary documentation, reports’ preparation, and providing of the accountancy consultations. The aim of the project is not only to provide accountancy consultations but also to deal with firms activity analysis and developing suggestions on their activity improvement. The author of the project supports the idea that the field representatives must constantly sustain the status of the accountant’s profession in current times. The accountant is not only the person who executes one’s regular duties and submits reports, but also the person who is competent in the field of taxes, financial management, able to advise on improvements in financial management, and above all able to adapt to the technological changes. The volume of the project is 105 pages, which includes 7 chapters, 17 appendices, 22 tables, 7 figures. 70 sources of information were used in master’s thesis
Initial state and transition-state solvation effects in the cobaltotungstate oxidation of iodide in binary aqueous solvent mixtures
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