bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
Authors: Taylor A , Wang D , Patel K , Whittall R , Wood G , Farrer M , Neely RDG , Fairgrieve S , Nair D , Barbir M , Jones JL , Egan S , Everdale R , Lolin Y , Hughes E , Cooper JA , Hadfield SG , Norbury G , Humphries SE 
Published: December 2009

Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RDG, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.Cascade testing using DNA‐mutation information is now recommended in the UK for patients with familial hypercholesterolaemia (FH). We compared the detection rate and mutation spectrum in FH patients with a clinical diagnosis of definite (DFH) and possible (PFH) FH. Six hundred and thirty‐five probands from six UK centres were tested for 18 low‐density lipoprotein receptor gene (LDLR) mutations, APOB p.Arg3527Gln and PCSK9 p.Asp374Tyr using a commercial amplification refractory mutation system (ARMS) kit. Samples with no mutation detected were screened in all exons by single strand conformation polymorphism analysis (SSCP)/denaturing high performance liquid chromatography electrophoresis (dHPLC)/direct‐sequencing, followed by multiplex ligation‐dependent probe amplification (MLPA) to detect deletions and duplications in LDLR.The detection rate was significantly higher in the 190 DFH patients compared to the 394 PFH patients (56.3% and 28.4%, p > 0.00001). Fifty‐one patients had inadequate information to determine PFH/DFH status, and in this group the detection rate was similar to the PFH group (25.5%, p = 0.63 vs PFH). Overall, 232 patients had detected mutations (107 different; 6.9% not previously reported). The ARMS kit detected 100 (44%) and the MLPA kit 11 (4.7%). Twenty‐eight (12%) of the patients had the APOB p.Arg3527Gln and four (1.7%) had the PCSK9 p.Asp374Tyr mutation. Of the 296 relatives tested from 100 families, a mutation was identified in 56.1%. In 31 patients of Indian/Asian origin 10 mutations (two previously unreported) were identified. The utility of the ARMS kit was confirmed, but sequencing is still required in a comprehensive diagnostic service for FH. Even in subjects with a low clinical suspicion of FH, and in those of Indian origin, mutation testing has an acceptable detection rate.
Holocarboxylase synthetase deficiency: novel clinical and molecular findings
Authors: Tammachote R , Janklat S , Tongkobpetch S , Suphapeetiporn K , Shotelersuk V 
Published: December 2009

Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K and Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings.Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder caused by defective activity of biotinidase or holocarboxylase synthetase (HLCS) in the biotin cycle. Clinical symptoms include skin lesions and severe metabolic acidosis. Here, we reported four unrelated Thai patients with MCD, diagnosed by urine organic acid analysis. Unlike Caucasians, which biotinidase deficiency has been found to be more common, all of our four Thai patients were affected by HLCS deficiency. Instead of the generally recommended high dose of biotin, our patients were given biotin at 1.2 mg/day. This low‐dose biotin significantly improved their clinical symptoms and stabilized the metabolic state on long‐term follow‐up. Mutation analysis by polymerase chain reaction‐sequencing of the entire coding region of the HLCS gene revealed the c.1522C>T (p.R508W) mutation in six of the eight mutant alleles. This suggests it as the most common mutation in the Thai population, which paves the way for a rapid and unsophisticated diagnostic method for the ethnic Thai. Haplotype analysis revealed that the c.1522C>T was on three different haplotypes suggesting that it was recurrent, not caused by a founder effect. In addition, a novel mutation, c.1513G>C (p.G505R), was identified, expanding the mutational spectrum of this gene.
Two missense mutations in SLC26A4 gene: a molecular and functional study
Authors: Rebeh I Ben , Yoshimi N , Hadj‐Kacem H , Yanohco S , Hammami B , Mnif M , Araki M , Ghorbel A , Ayadi H , Masmoudi S , Miyazaki H 
Published: December 2009

Ben Rebeh I, Yoshimi N, Hadj‐Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S and Miyazaki H. Two missense mutations in SLC26A4 gene: a molecular and functional study.Mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non‐syndromic hearing loss (HL) (DFNB4) and Pendred syndrome (PS). PS is a genetic disorder that causes early HL and affects the thyroid gland. Here, we report eight Tunisian families affected with profound HL. Clinical investigations revealed goiter in few patients. Genotyping using microsatellite makers showed linkage to SLC26A4, and missense mutations p.L445W and p.M147T were identified by sequencing and polymerase chain reaction–restriction fragment length polymorphism. The p.L445W mutation segregated in seven families and haplotype analysis suggested its founder effect. In order to understand the molecular pathogenic mechanisms of p.L445W and p.M147T mutations, SLC26A4 wild‐type and mutant cDNA constructs were transiently expressed in COS7 cells and several human cell lines including Thyroid 8305C cells. Reverse transcription‐PCR, western blot and immunofluorescence demonstrated that these two mutations abolished complex glycosylation of pendrin and prevented its targeting to the plasma membrane.
Review article: Managing sleep apnoea in kidney diseases
Authors: SIM JOHN J , RASGON SCOTT A , DEROSE STEPHEN F 
Published: December 2009

ABSTRACT:A higher prevalence of sleep apnoea (SA) has been observed in the chronic kidney disease (CKD) population compared with estimates in the general population. Increased rates of SA have been described in patients with various renal‐related diagnoses including dialysis, renal transplant, early‐stage CKD and proteinuria. The mechanism or underlying aetiology for this association is different for each type of kidney disease. The extracellular fluid volume and metabolic derangements that characterize the uremic state likely contributes to SA in the dialysis population. SA causing direct renal insults from haemodynamic changes, ischaemic stress, or an intermediary condition such as hypertension, can lead to early CKD and proteinuria. While renal transplantation has cured SA in some patients, the post‐transplant state is itself a risk factor for SA. The high prevalence of SA in kidney disease and the associated clinical implications warrant vigilance in diagnosis and treatment of SA in the CKD patient. This review focuses on the prevalence of SA in patients with CKD including dialysis and transplant patients, and those with early‐stage CKD and proteinuria. SA may vary in form and aetiology depending on type or stage of CKD. Based on these associations, we discuss our rationale for recommendations on screening and management of SA specific to the CKD population.
Investigation of skeletal muscle quantity and quality in end‐stage renal disease
Authors: CHEEMA BIRINDER , ABAS HAIFA , SMITH BENJAMIN , O'SULLIVAN ANTHONY J , CHAN MARIA , PATWARDHAN ADITI , KELLY JOHN , GILLIN ADRIAN , PANG GLEN , LLOYD BRAD , BERGER KLAUS , BAUNE BERNHARD T , SINGH MARIA FIATARONE 
Published: December 2009

ABSTRACT:Aim: A more precise understanding of the aetiology and sequelae of muscle wasting in end‐stage renal disease (ESRD) is required for the development of effective interventions to target this pathology.Methods: We investigated 49 patients with ESRD (62.6 ± 14.2 years, 0.3–16.7 years on haemodialysis). Thigh muscle cross‐sectional area (CSA), intramuscular lipid and intermuscular adipose tissue (IMAT) were measured via computed tomography as indices of muscle quantity (i.e. CSA) and quality (i.e. intramuscular lipid and IMAT). Additional health and clinical measures were investigated to determine associations with these variables.Results: Age, energy intake, disease burden, pro‐inflammatory cytokines, nutritional status, strength and functioning were related to muscle quantity and quality. Potential aetiological factors entered into forward stepwise regression models indicated that hypoalbuminaemia and lower body mass index accounted significantly and independently for 32% of the variance in muscle CSA (r = 0.56,P < 0.001), while older age and interleukin‐8 accounted for 41% of the variance in intramuscular lipid (r = 0.64,P < 0.001) and body mass index accounted for 45% of the variance in IMAT (r = 0.67,P < 0.001). Stepwise regression models revealed that intramuscular lipid was independently predictive of habitual gait velocity and 6 min walk distance, while CSA was independently predictive of maximal isometric strength (P < 0.05).Conclusion: Ageing, poor nutritional status and elevated interleukin‐8 are factors potentially contributing to the loss of muscle quality and quantity in ESRD. These deficits can predict functional impairments, with intramuscular lipid accumulation most closely related to decline of submaximal musculoskeletal performance (walking), and low muscle CSA most closely related to decline of maximal performance (peak isometric strength).
Comparisons of the gait parameters of young Korean women carrying a single‐strap bag
Authors: An Duk‐Hyun , Yoon Ji‐Yeon , Yoo Won‐Gyu , Kim Kyeong‐Mi 
Published: December 2009

AbstractThis study compared the gait parameters of young women using various methods to carry a single‐strap bag during walking. Twenty‐one Korean healthy women walked on a GAITRite‐instrumented carpet at a self‐paced speed for each of the four following conditions in random order: no bag, carrying a bag over the shoulder, carrying a bag on the forearm, and carrying a bag by the hand on the dominant (right) side. There was a significant reduction in the stride length for the contralateral leg when carrying a bag on the forearm, a significant decrease in the heel‐to‐heel base of support, and a significant increase in the toe angle on the ipsilateral leg when carrying a bag by hand. The results of our study suggest that, among the asymmetric bag‐carrying methods preferred by Korean young women during walking, the “over‐the‐shoulder” method has the least effect on gait parameters relative to not carrying a bag.
Experiences of nurse leaders surviving Hurricane Katrina, New Orleans, Louisiana, USA
Authors: Danna Denise , Bernard Marirose , Schaubhut Rose , Mathews Pamela 
Published: December 2009

AbstractHurricane Katrina left New Orleans, Louisiana, USA destroyed by its impact on 29 August 2005. Working during a hurricane was nothing new to these authors. Having lived in New Orleans all our lives, we were used to preparing our homes and our families to weather the storm. Nurses are in leadership positions before, during, and after any disaster. Nurses are called upon to report to duty, leaving their loved ones to care for themselves while the nurses care for the sick and frail in unbelievably difficult situations. The purpose of this article is to share our experiences as nurse survivors during Hurricane Katrina, reflecting on 10 major aspects of disaster planning from the perspective of the “Then” (during the storm) and the “Now” (current recommendations).
Temporal and spatial trigger of post‐exponential virulence‐associated regulatory cascades by Legionella pneumophila after bacterial escape into the host cell cytosol
Authors: Molmeret Maëlle , Jones Snake , Santic Marina , Habyarimana Fabien , Garcia Esteban Maria Teresa , Abu Kwaik Yousef 
Published: December 2009

SummaryDuring late stages of infection and prior to lysis of the infected macrophages or amoeba, the Legionella pneumophila‐containing phagosome becomes disrupted, followed by bacterial escape into the host cell cytosol, where the last few rounds of bacterial proliferation occur prior to lysis of the plasma membrane. This coincides with growth transition into the post‐exponential (PE) phase, which is controlled by regulatory cascades including RpoS and the LetA/S two‐component regulator. Whether the temporal expression of flagella by the regulatory cascades at the PE phase is exhibited within the phagosome or after bacterial escape into the host cell cytosol is not known. We have utilized fluorescence microscopy‐based phagosome integrity assay to differentiate between vacuolar and cytosolic bacteria/or bacteria within disrupted phagosomes. Our data show that during late stages of infection, expression of FlaA is triggered after bacterial escape into the macrophage cytosol and the peak of FlaA expression is delayed for few hours after cytosolic residence of the bacteria. Importantly, bacterial escape into the host cell cytosol is independent of flagella, RpoS and the two‐component regulator LetA/S, which are all triggered by L. pneumophila upon growth transition into the PE phase. Disruption of the phagosome and bacterial escape into the cytosol of macrophages is independent of the bacterial pore‐forming activity, and occurs prior to the induction of apoptosis during late stages of infection. We conclude that the temporal and spatial engagement of virulence‐associated regulatory cascades by L. pneumophila at the PE phase is temporally and spatially triggered after phagosomal escape and bacterial residence in the host cell cytosol.
Cross‐sectional determinants of post‐IPO stock performance: evidence from China
Authors: Chang Xin , Lin Shi Hua , Tam Lewis H. K. , Wong George 
Published: December 2009

AbstractThis paper examines the cross‐sectional determinants of post‐IPO long‐term stock returns in China. We document that the aftermarket P/E ratio has the most robust negative association with post‐IPO stock returns. The negative relation indicates that the market corrects the aftermarket overvaluation of IPO firms in the long run. Underwriter reputation has a positive effect on post‐IPO stock returns, while board size has a negative impact, consistent with the views that reputable underwriters mitigate the information asymmetry in IPO pricing and over‐sized boards reduce the effectiveness of corporate governance. However, we find little evidence indicating that the equity ownership structure is significantly associated with post‐IPO stock returns.
Determinants of executive compensation in privately held firms
Authors: Banghøj Jesper , Gabrielsen Gorm , Petersen Christian , Plenborg Thomas 
Published: December 2009

AbstractWe examine what determines executive compensation in privately held firms. Our study is motivated by the fact that most studies in this area rely on data from publicly traded firms. Further, the few studies that are based on data from privately held firms only examine a limited number of determinants of executive compensation. Our findings indicate that the pay‐to‐performance relation is weak. Board size and ownership concentration are the only corporate governance characteristics that explain variations in executive compensation. Executive characteristics like skills, title and educational attainment all explain variations in executive compensation. Contrary to our expectations, we do not find a stronger pay‐to‐performance relation in firms with better designed bonus plans.
Assessing the Costs of a Haulage Regime
Authors: Wills‐Johnson Nick 
Published: December 2009

Abstract Third‐party access to rail infrastructure in Western Australia's Pilbara region is a contentious issue due to concerns about how third‐party trains might impact on incumbents' operations. A recent State Government proposal involves a haulage regime, rather than access by third‐party trains. This article explores the ramifications of haulage by examining voluntary haulage in the United States. It finds, with some caveats, that haulage seems more appropriate to the Pilbara situation than access.
HPCCD: Hybrid Parallel Continuous Collision Detection using CPUs and GPUs
Authors: Kim Duksu , Heo Jae‐Pil , Huh Jaehyuk , Kim John , Yoon Sung‐eui 
Published: December 2009

AbstractWe present a novel, hybrid parallel continuous collision detection (HPCCD) method that exploits the availability of multi‐core CPU and GPU architectures. HPCCD is based on a bounding volume hierarchy (BVH) and selectively performs lazy reconstructions. Our method works with a wide variety of deforming models and supports self‐collision detection. HPCCD takes advantage of hybrid multi‐core architectures – using the general‐purpose CPUs to perform the BVH traversal and culling while GPUs are used to perform elementary tests that reduce to solving cubic equations. We propose a novel task decomposition method that leads to a lock‐free parallel algorithm in the main loop of our BVH‐based collision detection to create a highly scalable algorithm. By exploiting the availability of hybrid, multi‐core CPU and GPU architectures, our proposed method achieves more than an order of magnitude improvement in performance using four CPU‐cores and two GPUs, compared to using a single CPU‐core. This improvement results in an interactive performance, up to 148 fps, for various deforming benchmarks consisting of tens or hundreds of thousand triangles.
Affective Modelling: Profiling Geometrical Models with Human Emotional Responses
Authors: Lo Cheng‐Hung , Chu Chih‐Hsing 
Published: December 2009

AbstractIn this paper, a novel concept, Affective Modelling, is introduced to encapsulate the idea of creating 3D models based on the emotional responses that they may invoke. Research on perceptually‐related issues in Computer Graphics focuses mostly on the rendering aspect. Low‐level perceptual criteria taken from established Psychology theories or identified by purposefully‐designed experiments are utilised to reduce rendering effort or derive quality evaluation schemes. For modelling, similar ideas have been applied to optimise the level of geometrical details. High‐level cognitive responses such as emotions/feelings are less addressed in graphics literatures. This paper investigates the possibility of incorporating emotional/affective factors for 3D model creations. Using a glasses frame model as our test case, we demonstrate a methodological framework to build the links between human emotional responses and geometrical features. We design and carry out a factorial experiment to systematically analyse how certain shape factors individually and interactively influence the viewer's impression of the shape of glasses frames. The findings serve as a basis for establishing computational models that facilitate emotionally‐guided 3D modelling.
ProcDef: Local‐to‐global Deformation for Skeleton‐free Character Animation
Authors: Ijiri Takashi , Takayama Kenshi , Yokota Hideo , Igarashi Takeo 
Published: December 2009

AbstractAnimations of characters with flexible bodies such as jellyfish, snails, and, hearts are difficult to design using traditional skeleton‐based approaches. A standard approach is keyframing, but adjusting the shape of the flexible body for each key frame is tedious. In addition, the character cannot dynamically adjust its motion to respond to the environment or user input. This paper introduces a new procedural deformation framework (ProcDef) for designing and driving animations of such flexible objects. Our approach is to synthesize global motions procedurally by integrating local deformations. ProcDef provides an efficient design scheme for local deformation patterns; the user can control the orientation and magnitude of local deformations as well as the propagation of deformation signals by specifying line charts and volumetric fields. We also present a fast and robust deformation algorithm based on shape‐matching dynamics and show some example animations to illustrate the feasibility of our framework.
Procedural Synthesis using Vortex Particle Method for Fluid Simulation
Authors: Yoon Jong‐Chul , Kam Hyeong Ryeol , Hong Jeong‐Mo , Kang Shin Jin , Kim Chang‐Hun 
Published: December 2009

AbstractWe propose a fast and effective technique to improve sub‐grid visual details of the grid based fluid simulation. Our method procedurally synthesizes the flow fields coming from the incompressible Navier‐Stokes solver and the vorticity fields generated by vortex particle method for sub‐grid turbulence. We are able to efficiently animate smoke which is highly turbulent and swirling with small scale details. Since this technique does not solve the linear system in high‐resolution grids, it can perform fluid simulation more rapidly. We can easily estimate the influence of turbulent and swirling effect to the fluid flow.
Automatic Correction of Saturated Regions in Photographs using Cross‐Channel Correlation
Authors: Masood Syed Z. , Zhu Jiejie , Tappen Marshall F. 
Published: December 2009

AbstractIncorrectly setting the camera's exposure can have a significant negative effect on a photograph. Over‐exposing photographs causes pixels to exhibit unpleasant artifacts due to saturation of the sensor. Saturation removal typically involves user intervention to adjust the color values, which is tedious and time‐consuming. This paper discusses how saturation can be automatically removed without compromising the essential details of the image. Our method is based on a smoothness prior: neighboring pixels have similar channel ratios and color values. We demonstrate that high quality saturation‐free photos can be obtained from a simple but effective approach.
Edit Propagation on Bidirectional Texture Functions
Authors: Xu Kun , Wang Jiaping , Tong Xin , Hu Shi‐Min , Guo Baining 
Published: December 2009

AbstractWe propose an efficient method for editing bidirectional texture functions (BTFs) based on edit propagation scheme. In our approach, users specify sparse edits on a certain slice of BTF. An edit propagation scheme is then applied to propagate edits to the whole BTF data. The consistency of the BTF data is maintained by propagating similar edits to points with similar underlying geometry/reflectance. For this purpose, we propose to use view independent features including normals and reflectance features reconstructed from each view to guide the propagation process. We also propose an adaptive sampling scheme for speeding up the propagation process. Since our method needn't any accurate geometry and reflectance information, it allows users to edit complex BTFs with interactive feedback.
Texture Splicing
Authors: Liu Yiming , Wang Jiaping , Xue Su , Tong Xin , Kang Sing Bing , Guo Baining 
Published: December 2009

AbstractWe propose a new texture editing operation called texture splicing. For this operation, we regard a texture as having repetitive elements (textons) seamlessly distributed in a particular pattern. Taking two textures as input, texture splicing generates a new texture by selecting the texton appearance from one texture and distribution from the other. Texture splicing involves self‐similarity search to extract the distribution, distribution warping, context‐dependent warping, and finally, texture refinement to preserve overall appearance. We show a variety of results to illustrate this operation.