1,746 research outputs found

    Ultrasonic Doppler measurement of renal artery blood flow

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    An extensive evaluation of the practical and theoretical limitations encountered in the use of totally implantable CW Doppler flowmeters is provided. Theoretical analyses, computer models, in-vitro and in-vivo calibration studies describe the sources and magnitudes of potential errors in the measurement of blood flow through the renal artery, as well as larger vessels in the circulatory system. The evaluation of new flowmeter/transducer systems and their use in physiological investigations is reported

    Ultrasonic Doppler measurement of renal artery blood flow

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    Studies were made of (1) blood flow redistribution during lower body negative pressure (LBNP), (2) the profile of blood flow across the mitral annulus of the heart (both perpendicular and parallel to the commissures), (3) testing and evaluation of a number of pulsed Doppler systems, (4) acute calibration of perivascular Doppler transducers, (5) redesign of the mitral flow transducers to improve reliability and ease of construction, and (6) a frequency offset generator designed for use in distinguishing forward and reverse components of blood flow by producing frequencies above and below the offset frequency. Finally methodology was developed and initial results were obtained from a computer analysis of time-varying Doppler spectra

    Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

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    Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing study of XLMR, but significant linkage to X chromosome markers could not be found. Extreme short stature and microcephaly as well as other new clinical findings were observed. Mutations in the polyglutamine tract binding protein 1 gene (PQBP1) have recently been reported in four XLMR disorders (Renpenning, Hamel cerebro-palato-cardiac, Sutherland-Haan, and Porteous syndromes) as well as in several other families. The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.Results: A missense mutation in PQBP1 was identified which changed the conserved tyrosine residue in the WW domain at position 65 to a cysteine (p.Y65C).Conclusions: This is the first missense mutation identified in PQBP1 and the first mutation in the WW domain of the gene. The WW domain has been shown to play an important role in the regulation of transcription by interacting with the PPxY motif found in transcription factors. The p.Y65C mutation may affect the proper functioning of the PQBP1 protein as a transcriptional co-activator

    MRI Findings in People with Epilepsy and Nodding Syndrome in an Area Endemic for Onchocerciasis: An Observational Study.

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    Onchocerciasis has been implicated in the pathogenesis of epilepsy. The debate on a potential causal relationship between Onchocerca volvulus and epilepsy has taken a new direction in the light of the most recent epidemic of nodding syndrome. To document MRI changes in people with different types of epilepsy and investigate whether there is an association with O. volvulus infection. In a prospective study in southern Tanzania, an area endemic for O. volvulus with a high prevalence of epilepsy and nodding syndrome, we performed MRI on 32 people with epilepsy, 12 of which suffered from nodding syndrome. Polymerase chain reaction (PCR) of O. volvulus was performed in skin and CSF. The most frequent abnormalities seen on MRI was atrophy (twelve patients (37.5%)) followed by intraparenchymal pathologies such as changes in the hippocampus (nine patients (28.1%)), gliotic lesions (six patients (18.8%)) and subcortical signal abnormalities (three patients (9.4%)). There was an overall trend towards an association of intraparenchymal cerebral pathologies and infection with O. volvulus based on skin PCR (Fisher's Exact Test p=0.067) which was most pronounced in children and adolescents with nodding syndrome compared to those with other types of epilepsy (Fisher's Exact Test, p=0.083). Contrary to skin PCR results, PCR of CSF was negative in all patients. The observed trend towards an association of intraparenchymal cerebral pathological results on MRI and a positive skin PCR for O. volvulus despite negative PCR of CSF is intriguing and deserves further attention

    Optical Scattering Lengths in Large Liquid-Scintillator Neutrino Detectors

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    For liquid-scintillator neutrino detectors of kiloton scale, the transparency of the organic solvent is of central importance. The present paper reports on laboratory measurements of the optical scattering lengths of the organic solvents PXE, LAB, and Dodecane which are under discussion for next-generation experiments like SNO+, Hanohano, or LENA. Results comprise the wavelength range from 415 to 440nm. The contributions from Rayleigh and Mie scattering as well as from absorption/re-emission processes are discussed. Based on the present results, LAB seems to be the preferred solvent for a large-volume detector.Comment: 9 pages, 3 figures, accepted for publication by Rev. Scient. Instr

    Muon and Cosmogenic Neutron Detection in Borexino

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    Borexino, a liquid scintillator detector at LNGS, is designed for the detection of neutrinos and antineutrinos from the Sun, supernovae, nuclear reactors, and the Earth. The feeble nature of these signals requires a strong suppression of backgrounds below a few MeV. Very low intrinsic radiogenic contamination of all detector components needs to be accompanied by the efficient identification of muons and of muon-induced backgrounds. Muons produce unstable nuclei by spallation processes along their trajectory through the detector whose decays can mimic the expected signals; for isotopes with half-lives longer than a few seconds, the dead time induced by a muon-related veto becomes unacceptably long, unless its application can be restricted to a sub-volume along the muon track. Consequently, not only the identification of muons with very high efficiency but also a precise reconstruction of their tracks is of primary importance for the physics program of the experiment. The Borexino inner detector is surrounded by an outer water-Cherenkov detector that plays a fundamental role in accomplishing this task. The detector design principles and their implementation are described. The strategies adopted to identify muons are reviewed and their efficiency is evaluated. The overall muon veto efficiency is found to be 99.992% or better. Ad-hoc track reconstruction algorithms developed are presented. Their performance is tested against muon events of known direction such as those from the CNGS neutrino beam, test tracks available from a dedicated External Muon Tracker and cosmic muons whose angular distribution reflects the local overburden profile. The achieved angular resolution is 3-5 deg and the lateral resolution is 35-50 cm, depending on the impact parameter of the crossing muon. The methods implemented to efficiently tag cosmogenic neutrons are also presented.Comment: 42 pages. 32 figures on 37 files. Uses JINST.cls. 1 auxiliary file (defines.tex) with TEX macros. submitted to Journal of Instrumentatio

    Low-energy (anti)neutrino physics with Borexino: Neutrinos from the primary proton-proton fusion process in the Sun

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    The Sun is fueled by a series of nuclear reactions that produce the energy that makes it shine. The primary reaction is the fusion of two protons into a deuteron, a positron and a neutrino. These neutrinos constitute the vast majority of neutrinos reaching Earth, providing us with key information about what goes on at the core of our star. Several experiments have now confirmed the observation of neutrino oscillations by detecting neutrinos from secondary nuclear processes in the Sun; this is the first direct spectral measurement of the neutrinos from the keystone proton-proton fusion. This observation is a crucial step towards the completion of the spectroscopy of pp-chain neutrinos, as well as further validation of the LMA-MSW model of neutrino oscillations.Comment: Proceedings from NOW (Neutrino Oscillation Workshop) 201
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