This study aimed to use short-form visual analogue scale cochlear implantation questionnaires to evaluate subjective aspects at each out-patient visit. The correlation between subjective hearing ...tests using the short-form visual analogue scale and objective hearing outcomes was evaluated.
This study was conducted in a single centre. Cochlear implant users (
= 199) evaluated their hearing on a scale of 0 to 100 for the right, left and both ears. The Japanese speech perception test (CI-2004) Japanese monosyllable speech perception test (67-S) and cochlear implantation threshold were used for the objective cochlear implantation evaluation.
A significant correlation was found between the short-form visual analogue scale questionnaire and objective hearing outcome, for words (
= 0.64) and sentences (
= 0.62) in CI-2004 and 67-S (
= 0.56) tests. No significant correlation was found between the short-form visual analogue scale score and cochlear implantation threshold (
= -0.18).
Short-form visual analogue scale cochlear implantation questionnaires mean cochlear implant users spend less time answering subjective visual analogue scale questionnaires, and clinicians estimate a patient's cochlear implantation hearing and abnormality by chronological evaluation.
Aims/hypothesis
The endogenous production of stromal cell-derived factor-1 (SDF-1) in beta cells in transgenic mice attenuates the development of diabetes in response to streptozotocin. Here we ...propose that beta cell injury induces SDF-1 production, and the SDF-1/chemokine (C-X-C motif) receptor 4 (CXCR4) interaction auto-activates
Sdf1
expression, resulting in the autocrine production of SDF-1 by beta cells and the paracrine activation of glucagon-like peptide-1 (GLP-1) production by alpha cells.
Methods
SDF-1 production in adult mouse and human islets and rat INS-1 cells was measured in models of beta cell injury. The paracrine actions of SDF-1 on GLP-1 production in alpha cells were explored. The potential synergism between the growth-promoting actions of GLP-1 and the pro-survival actions of SDF-1 on the preservation of cell mass was evaluated by cell viability assays.
Results
In adult islets and INS-1 cells,
Sdf1
expression was re-induced in response to injury. The interaction of SDF-1 with its receptor on alphaTC1 cells activated protein kinase Akt, stimulated cell proliferation and induced the expression of prohormone convertase 1/3 and the consequent production of GLP-1 in alpha cells. The combination of GLP-1 and SDF-1 additively enhanced both the growth and longevity of INS-1 beta cells.
Conclusions/interpretation
The results of these studies suggest that in response to beta cell injury and the ensuing induction of SDF-1, the biological function of alpha cells switches from the production of glucagon to the provision of the local growth factor GLP-1 which, in combination with SDF-1, promotes the growth, survival and viability of the beta cells.
Abstract Background We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset ...dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. Methods Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants. Results Patients with ATP1A3 R756H have onset in childhood of infrequent, fever-triggered paroxysms of encephalopathy and weakness with slowly improving but persistent deficits. Motor findings of weakness are mostly generalized, and patients may also have bulbar or oculomotor problems. Longer-term outcomes range from mild motor apraxia with near-normal function to persistent dysphagia, dysarthria, cognitive deficit, motor apraxia, and inability to walk because of ataxia. Patients with ATP1A3 R756L have a similar phenotype that includes paroxysmal, stepwise progression of ataxia associated with infections. Conclusions ATP1A3 mutations affecting residue 756 result in a clinical syndrome, separate from those associated with previously described ATP1A3 mutations, which consists chiefly of fever-induced paroxysmal weakness and encephalopathy (FIPWE). Patients with R756L and R756C protein variants display more prominent ataxia, overlapping with the relapsing encephalopathy with cerebellar ataxia syndrome previously described in a patient with the c.2266C>T (R756C) mutation. All patients reported with mutations at residue 756 to date have had a similar episodic course and clinical features. Patients with mutations of ATP1A3 residue 756 appear to have a distinct clinical phenotype compared with patients with other ATP1A3 mutations, with fever-induced encephalopathy as key differentiating feature.
Abstract
We develop a method for identifying a compact object in binary systems with astrometric measurements and apply it to some binaries. Compact objects in some high-mass X-ray binaries and ...gamma-ray binaries are unknown, which is responsible for the fact that emission mechanisms in such systems have not yet confirmed. The accurate estimate of the mass of the compact object allows us to identify the compact object in such systems. Astrometric measurements are expected to enable us to estimate the masses of the compact objects in the binary systems via a determination of a binary orbit. We aim to evaluate the possibility of the identification of the compact objects for some binary systems. We then calculate probabilities that the compact object is correctly identified with astrometric observation (= confidence level) by taking into account a dependence of the orbital shape on orbital parameters and distributions of masses of white dwarfs, neutron stars and black holes. We find that the astrometric measurements with the precision of 70 μas for γ Cas allow us to identify the compact object at 99 per cent confidence level if the compact object is a white dwarf with 0.6 M⊙. In addition, we can identify the compact object with the precision of 10 μas at 97 per cent or larger confidence level for LS I +61° 303 and 99 per cent or larger for HESS J0632+057. These results imply that the astrometric measurements with the 10 μas precision level can realize the identification of compact objects for γ Cas, LS I +61° 303, and HESS J0632+057.
(FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We ...collected and reanalyzed the evidence for pathogenicity of
coding, noncoding, and copy number variants published to date. There is a spectrum of disease-causing
variation, with clinical and functional evidence supporting pathogenicity of five splicing, five missense, one in-frame deletion, one nonsense, and four frameshift variants. In addition,
deletions occur in both mosaic full mutation patients and as constitutional pathogenic alleles. De novo deletions arise not only from full mutation alleles but also alleles with normal-sized CGG repeats in several patients, suggesting that the CGG repeat region may be prone to genomic instability even in the absence of repeat expansion. We conclude that clinical tests for potentially
-related indications such as intellectual disability should include methods capable of detecting small coding, noncoding, and copy number variants.
Hydrodynamic stability of a two-dimensional steady thermocapillary flow under weightlessness in a high-Prandtl number liquid bridge is studied by means of three-dimensional numerical modeling for a ...wide range of aspect ratios. We suggest an explanation of the findings of a series of microgravity experiments on Marangoni convection in liquid bridges. Stability of the flow with heat transfer through the interface, modeled by the classical Fourier law, is compared with the stability of the same system under adiabatic conditions. Cooling the interface may significantly shift the threshold of hydrothermal instability as soon as the Biot number deviates from zero. It may also affect the structure of the basic Marangoni flow and the mode of the supercritical flow. We demonstrate that the heat loss has a destabilizing effect for the aspect ratios (ratio of radius to height) below 2.4 (with the exception of a region between 1.6 and 1.8), and for the longer liquid bridges the prevailing effect is stabilizing. The heat transfer coefficient as a function of the length of the liquid zone is theoretically calculated using a model of heat transport for laminar forced convection. Comparison of the results of the modeling with the experimental data shows that an incorrect assessment of the heat transfer may lead to wrong conclusions concerning both the critical parameters of the flow and its structure.
The origin of the low Young’s modulus of cold worked Ti–36Nb–2Ta–3Zr–
xO mass% polycrystals with a body-centered cubic (β-phase) structure, referred to as gum metal, was investigated with a focus on ...the roles of oxygen concentration, the electron–atom (
e/
a) ratio, and the cold working process. Analysis of the temperature dependence of the microstructures and elastic properties of single crystals at
x
=
0.09, 0.36, 0.51% O using transmission electron microscopy and an electromagnetic acoustic resonance method, respectively, revealed that the shear moduli
c′ and
c
44 of the 0.36 and 0.51% O alloys softened upon cooling near room temperature (RT) and exhibited low values at RT. This was because suppression of the α″ martensitic transformation by oxygen addition led to retention of the low stability single β-phase state at RT. The Hill approximation indicated that the low
c′ and
c
44 values caused by softening gave rise to the low Young’s modulus, which is common to some Ti–Nb-based alloys with an
e/
a ratio of ∼4.24. Analysis of the microstructures and elastic properties of solution-treated and cold worked
x
=
0.06, 0.30, 0.47% O alloy polycrystals at RT revealed that the Young’s modulus increased upon 90% cold working due to formation of the α″ martensite phase (0.09% O) and ω phase (0.09, 0.30, and 0.47% O) with a high elastic modulus in the β-phase matrix. However, increasing the oxygen concentration suppresses the increase in Young’s modulus because oxygen addition decreases the amount of α″ and ω phases formed while retaining the low stability β phase. Therefore, cold working combined with oxygen addition produces a low Young’s modulus compatible with high strength.
Sixty strains of Escherichia coli, isolated by hemoculture, from septicemic Brazilian patients were evaluated to determine their serogroup and invasivity to Vero cells. All 60 patients died within 2 ...days of hospitalization. Furthermore, the molecular study of the following extraintestinal pathogenic E. coli-associated virulence factor (VF) genes was performed by PCR: i) adhesins: type 1 fimbria (fimH), S fimbria (sfaD/E), P fimbria (papC and papG alleles) and afimbrial adhesin (afaB/C); ii) capsule K1/K5 (kpsMTII); iii) siderophores: aerobactin (iucD), yersiniabactin (fyuA) and salmochelin (iroN); iv) toxins hemolysin (hlyA), necrotizing cytotoxic factor type 1 (cnf1) and secreted autotransporter toxin (sat); v) miscellaneous: brain microvascular endothelial cells invasion (ibeA), serum resistance (traT), colicin V (cvaC) and specific uropathogenic protein (usp). Our results showed that isolates are able to invade Vero cells (96.6%), differing from previous research on uropathogenic E. coli (UPEC). The O serogroups associated with UPEC were prevalent in 60% of strains vs 11.7% of other serogroups. The PCR results showed a conserved virulence subgroup profile and a prevalence above 75% for fimH, fyuA, kpsMTII and iucD, and between 35-65% for papC, papG, sat, iroN, usp and traT. The evasion from the immunological system of the host and also iron uptake are essential for the survival of extraintestinal pathogenic E. coli strains. Interestingly, among our isolates, a low prevalence of VF genes appeared. Therefore, the present study contributes to the identification of a bacterial profile for sepsis-associated E. coli.
Used for both proton decay searches and neutrino physics, large water Cherenkov (WC) detectors have been very successful tools in particle physics. They are notable for their large masses and charged ...particle detection capabilities. While current WC detectors reconstruct charged particle tracks over a wide energy range, they cannot efficiently detect neutrons. Gadolinium (Gd) has the largest thermal neutron capture cross section of all stable nuclei and produces an 8 MeV gamma cascade that can be detected with high efficiency. Because of the many new physics opportunities that neutron tagging with a Gd salt dissolved in water would open up, a large-scale R&D program called EGADS was established to demonstrate this technique’s feasibility. EGADS features all the components of a WC detector, chiefly a 200-ton stainless steel water tank furnished with 240 photo-detectors, DAQ, and a water system that removes all impurities from water while keeping Gd in solution. In this paper we discuss the milestones towards demonstrating the feasibility of this novel technique, and the features of EGADS in detail.
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