1,378 research outputs found
A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly
In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm3; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15000/mm3 with giant platelets. Coagulation test results were not remarkable. Direct sequencing of MYH9 revealed that he was heterozygous for a mutation in exon 1, which was a 97T>A substitution mutation affecting codon 33, substituting tryptophan with arginine (Trp33Arg). Family study showed that both of his parents had normal phenotype and genotypes, indicating a de novo occurrence of the mutation in the proband
Discrete mappings with an explicit discrete Lyapunov function related to integrable mappings
We propose discrete mappings of second order that have a discrete analogue of
Lyapunov function. The mappings are extensions of the integrable
Quispel-Roberts-Thompson (QRT) mapping, and a discrete Lyapunov function of the
mappings is identical to an explicit conserved quantity of the QRT mapping.
Moreover we can obtain a differential and an ultradiscrete limit of the
mappings preserving the existence of Lyapunov function. We also give
applications of a mapping with an adjusted parameter, a probabilistic mapping
and coupled mappings.Comment: submitted to Physica
Direct Lagrangian tracking simulation of droplet growth in vertically developing cloud
We present a direct Lagrangian simulation that computes key warm-rain
processes in a vertically developing cloud, including cloud condensation nuclei
(CCN) activation, condensational growth, collisional growth, and droplet
gravitational settling. This simulation, which tracks the motion and growth
of individual particles, is applied to a kinematic simulation of an
extremely vertically elongated quasi-one-dimensional domain, after which the
results are compared with those obtained from a spectral-bin model, which
adopts the conventional Eulerian framework. The comparison results, which
confirm good bulk statistical agreement between the Lagrangian and
conventional spectral-bin simulations, also show that the Lagrangian
simulation is free from the numerical diffusion found in the spectral-bin
simulation. After analyzing the Lagrangian statistics of the surface
raindrops that reach the ground surface, back-trajectory scrutiny reveals
that the Lagrangian statistics of surface raindrops contains the information
about the sky where the raindrops grow like the shape does for snow crystals.</p
Activating Effect of Benzbromarone, a Uricosuric Drug, on Peroxisome Proliferator-Activated Receptors
Benzbromarone, a uricosuric drug, reportedly causes hepatic hypertrophy accompanied by proliferation of peroxisomes in rats. To elucidate the mechanisms underlying induction of peroxisome proliferation by benzbromarone, we examined binding affinity for peroxisome proliferator-activated receptor Ī± (PPARĪ±) and Ī³ (PPARĪ³), and effects on the binding activity of PPARs with peroxisome proliferation-responsive element (PPRE) and expression of the PPARs target protein. Binding affinity of benzbromarone for PPARĪ± and PPARĪ³ was examined by reporter gene assay. Binding activity of PPARs with PPRE was determined by electric mobility shift assay, and expression of lipoprotein lipase (LPL) and acyl-CoA synthetase (ACS) by Western blot method. Benzbromarone displayed affinity for PPARĪ± and PPARĪ³, and promoted binding of PPARs to PPRE. Furthermore, cultured cells with benzbromarone added showed upregulated expression of LPL and ACS. These results suggest that benzbromarone induces peroxisome proliferation in hepatocytes by binding to PPARs, and controls expression of proteins related to lipid metabolism
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Association between hospital case volume and mortality in non-elderly pneumonia patients stratified by severity: a retrospective cohort study
Background: The characteristics and aetiology of pneumonia in the non-elderly population is distinct from that in the elderly population. While a few studies have reported an inverse association between hospital case volume and clinical outcome in elderly pneumonia patients, the evidence is lacking in a younger population. In addition, the relationship between volume and outcome may be different in severe pneumonia cases than in mild cases. In this context, we tested two hypotheses: 1) non-elderly pneumonia patients treated at hospitals with larger case volume have better clinical outcome compared with those treated at lower case volume hospitals; 2) the volume-outcome relationship differs by the severity of the pneumonia. Methods: We conducted the study using the Japanese Diagnosis Procedure Combination database. Patients aged 18ā64 years discharged from the participating hospitals between July to December 2010 were included. The hospitals were categorized into four groups (very-low, low, medium, high) based on volume quartiles. The association between hospital case volume and in-hospital mortality was evaluated using multivariate logistic regression with generalized estimating equations adjusting for pneumonia severity, patient demographics and comorbidity score, and hospital academic status. We further analyzed the relationship by modified A-DROP pneumonia severity score calculated using the four severity indices: dehydration, low oxygen saturation, orientation disturbance, and decreased systolic blood pressure. Results: We identified 8,293 cases of pneumonia at 896 hospitals across Japan, with 273 in-hospital deaths (3.3%). In the overall population, no significant association between hospital volume and in-hospital mortality was observed. However, when stratified by pneumonia severity score, higher hospital volume was associated with lower in-hospital mortality at the intermediate severity level (modified A-DROP score = 2) (odds ratio (OR) of very low vs. high: 2.70; 95% confidence interval (CI): 1.12ā6.55, OR of low vs. high: 2.40; 95% CI:0.99ā5.83). No significant association was observed for other severity strata. Conclusions: Hospital case volume was inversely associated with in-hospital mortality in non-elderly pneumonia patients with intermediate pneumonia severity. Our result suggests room for potential improvement in the quality of care in hospitals with lower volume, to improve treatment outcomes particularly in patients admitted with intermediate pneumonia severity
Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema
Pathogenic variants of the X-linked FLNA gene encoding filamin A protein have been associated with a wide spectrum of symptoms, including the recently described pulmonary phenotype with childhood-onset panlobular emphysema. We describe three female patients from two families with novel heterozygous FLNA variants c.5837_2del and c.508C > T. Analysis of immunofluorescence of peripheral blood smears and platelet function was performed for all patients. FLNA-negative platelets were observed, suggesting that these variants result in the loss of a functional protein product. All three patients also had periventricular nodular heterotopia and panlobular emphysema. However, they had considerably milder symptoms and later age of onset than in the previously reported cases. Therefore, patients with pathogenic FLNA variants should be studied actively for lung involvement even in the absence of pronounced respiratory symptoms. Conversely, any patient with unexplained panlobular emphysema should be analyzed for pathogenic FLNA variants. We also suggest that immunofluorescence analysis is a useful tool for investigating the pathogenicity of novel FLNA variants.Peer reviewe
Newly discovered habitat of a threatened goby, Acanthogobius insularis (Perciformes: Gobiidae), in southern part of Okinawa-jima Island, Japan
Acanthogobius insularis Shibukawa and Taki (1996) is a threatened goby species, previously known to be restricted to estuaries on Amami-oshima Island and northern part of Okinawa-jima Island. However, we found this species in two estuaries in the southern part of Okinawa-jima Island (Toyosaki and Manko), which are separated from their habitats in the northern part of the island by approx. 60 km of coral reefs. Morphologies of four specimens collected in Toyosaki and Manko examined in the present study correspond to the original description of A. insularis. This study reports that Toyosaki is the southernmost habitat of this species based on specimens. Because it is thought that A. insularis move to unknown spawning habitats in winter and because only one individual has been found in Manko, it is necessary to understand the habitats that these newly discovered small populations use, in their entirety
New approach to oligotriazoles using a cobalt complex of propargyl azides as a synthetic component
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