bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
Authors: Huang Shasha , Han Dongyi , Yuan Yongyi , Wang Guojian , Kang Dongyang , Zhang Xin , Yan Xiaofei , Meng Xiaoxiao , Dong Min , Dai Pu 
Published: September 2011

Abstract

Background
Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). The relationship between mutations in SLC26A4 and Mondini deformity without enlarged vestibular aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the SLC26A4 gene cause Mondini deformity without an enlarged vestibular aqueduct (isolated Mondini deformity) in a Chinese population.

Methods
In total, 144 patients with sensorineural hearing loss were included and subjected to high-resolution temporal bone CT. Among them, 28 patients with isolated Mondini dysplasia (MD group), 50 patients with enlarged vestibular aqueduct with Mondini dysplasia (EVA with MD group), 50 patients with enlarged vestibular aqueduct without Mondini dysplasia (EVA group), and 16 patients with other types of inner ear malformations (IEM group) were identified. The coding exons of SLC26A4 were analyzed in all subjects.

Results
DNA sequence analysis of SLC26A4 was performed in all 144 patients. In the different groups, the detection rate of the SLC26A4 mutation differed. In the isolated MD group, only one single allelic mutation in SLC26A4 was found in one patient (1/28, 3.6%). In the EVA with MD group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. Also, in the EVA group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. These percentages were identical to those in the EVA plus MD group. Only two patients carried monoallelic mutations of the SLC26A4 gene in the IEM group (2/16, 12.5%). There were significant differences in the frequency of SLC26A4 mutation among the groups (P < 0.001). The detection rate of SLC26A4 mutation in the isolated MD group was significantly lower than in the EVA group (with or without MD; P < 0.001), and there was no significant difference in the detection rate of SLC26A4 between the MD group and IEM group (P > 0.5).

Conclusion
Although mutations in the SLC26A4 gene were frequently found in Chinese EVA patients with and without MD, there was no evidence to show a relationship between isolated MD and the SLC26A4 gene in the Chinese population examined. Hearing impairment in patients with isolated MD may be caused by factors other than mutations in the SLC26A4 gene.
Photoelectrochemical studies of DNA-tagged biomolecules on Au and Au/Ni/Au multilayer nanowires
Authors: Swaminathan Viswanathan , Liew Hwi Fen , Lew Wen Siang , Hu Lanying , Phan Anh Tuan 
Published: September 2011

AbstractThe use of nanowires (NWs) for labeling, sensing, and sorting is the basis of detecting biomolecules attached on NWs by optical and magnetic properties. In spite of many advantages, the use of biomolecules-attached NWs sensing by photoelectrochemical (PEC) study is almost non-existent. In this article, the PEC study of dye-attached single-stranded DNA on Au NWs and Au-Ni-Au multilayer NWs prepared by pulse electrodeposition are investigated. Owing to quantum-quenching effect, the multilayer Au NWs exhibit low optical absorbance when compared with Au NWs. The tagged Au NWs show good fluorescence (emission) at 570 nm, indicating significant improvement in the reflectivity. Optimum results obtained for tagged Au NWs attached on functionalized carbon electrodes and its PEC behavior is also presented. A twofold enhancement in photocurrent is observed with an average dark current of 10 μA for Au NWs coated on functionalized sensing electrode. The importance of these PEC and optical studies provides an inexpensive and facile processing platform for Au NWs that may be suitable for biolabeling applications.
On the solvability of discrete nonlinear Neumann problems involving the p(x)-Laplacian
Authors: Guiro Aboudramane , Nyanquini Ismael , Ouaro Stanislas 
Published: September 2011

Abstract
In this article, we prove the existence and uniqueness of solutions for a family of discrete boundary value problems for data f which belongs to a discrete Hilbert space W.

2010 Mathematics Subject Classification: 47A75; 35B38; 35P30; 34L05; 34L30.
Error-resilient video coding with end-to-end rate-distortion optimized at macroblock level
Authors: Xiao Jimin , Tillo Tammam , Lin Chunyu , Zhao Yao 
Published: September 2011

Abstract
Intra macroblock refreshment is an effective approach for error-resilient video coding. In this paper, in addition to intra coding, we propose to add two macroblock coding modes to enhance the transmission robustness of the coded bitstream, which are inter coding with redundant macroblock and intra coding with redundant macroblock. The selection of coding modes and the parameters for coding the redundant version of the macroblock are determined by the rate-distortion optimization. It is worth mentioning that the end-to-end distortion is employed in the optimization procedure, which considers the channel conditions. Extensive simulation results show that the proposed approach outperforms other error-resilient approaches significantly; for some video sequences, the average PSNR can be up to 4 dB higher than that of the Optimal Intra Refreshment approach.
Up-regulation of dorsal root ganglia BDNF and trkB receptor in inflammatory pain: an in vivo and in vitrostudy
Authors: Lin Ya-Tin , Ro Long-Sun , Wang Hung-Li , Chen Jin-Chung 
Published: September 2011

AbstractBackgroundDuring inflammation, immune cells accumulate in damaged areas and release pro-inflammatory cytokines and neurotrophins. Brain-derived neurotrophic factor (BDNF) plays a neuromodulatory role in spinal cord dorsal horn via the post-synaptic tyrosine protein kinase B (trkB) receptor to facilitate pain transmission. However, the precise role of BDNF and trkB receptor in the primary sensory neurons of dorsal root ganglia (DRG) during inflammation remains to be clarified. The aim of this study was to investigate whether and how BDNF-trkB signaling in the DRG is involved in the process of inflammatory pain.MethodsWe used complete Freund's adjuvant- (CFA-) induced and tumor necrosis factor-α- (TNF-α-) induced inflammation in rat hindpaw as animal models of inflammatory pain. Quantification of protein and/or mRNA levels of pain mediators was performed in separate lumbar L3-L5 DRGs. The cellular mechanism of TNF-α-induced BDNF and/or trkB receptor expression was examined in primary DRG cultures collected from pooled L1-L6 DRGs. Calcitonin gene-related peptide (CGRP), BDNF and substance P release were also evaluated by enzyme immunoassay.ResultsCFA injection into rat hindpaw resulted in mechanical hyperalgesia and significant increases in levels of TNF-α in the inflamed tissues, along with enhancement of BDNF and trkB receptor as well as the pain mediators CGRP and transient receptor potential vanilloid receptor subtype 1 (TRPV1) in DRG. Direct injection of TNF-α into rat hindpaw resulted in similar effects with retrograde transport of TNF-α along the saphenous nerve to DRG during CFA-induced inflammation. Primary DRG cultures chronically treated with TNF-α showed significant enhancement of mRNA and protein levels of BDNF and trkB receptor, BDNF release and trkB-induced phospho-ERK1/2 signal. Moreover, CGRP and substance P release were enhanced in DRG cultures after chronic TNF-α treatment or acute BDNF stimulation. In addition, we found that BDNF up-regulated trkB expression in DRG cultures.ConclusionsBased on our current experimental results, we conclude that inflammation and TNF-α up-regulate the BDNF-trkB system in DRG. This phenomenon suggests that up-regulation of BDNF in DRG may, in addition to its post-synaptic effect in spinal dorsal horn, act as an autocrine and/or paracrine signal to activate the pre-synaptic trkB receptor and regulate synaptic excitability in pain transmission, thereby contributing to the development of hyperalgesia.
Primitive neuroectodermal tumor of the cervix: a case report
Authors: Farzaneh Farah , Rezvani Hamidreza , Boroujeni Parisa Taherzadeh , Rahimi Farzaneh 
Published: September 2011

Abstract

Introduction
Peripheral primitive neuroectodermal tumor of the cervix uteri is extremely rare. Between 1987 and 2010, there were only nine cases reported in the English literature, with considerably different management policies.

Case presentation
A 45-year-old Iranian woman presented to our facility with a primitive neuroectodermal tumor of the cervix uteri. Her clinical stage IB2 tumor was treated successfully with chemotherapy. Our patient underwent radical hysterectomy. There was no trace of the tumor after four years of follow-up.

Conclusions
According to current knowledge, primitive neuroectodermal tumors belong to the Ewing's sarcoma family, and the improvement of treatment outcome in our patient was due to dose-intensive neoadjuvant chemotherapy, surgery and consolidation chemotherapy in accordance with the protocol for bony Ewing's sarcoma.
Diagnostic evaluation of three cardiac software packages using a consecutive group of patients
Authors: Johansson Lena , Lomsky Milan , Marving Jens , Ohlsson Mattias , Svensson Sven-Eric , Edenbrandt Lars 
Published: September 2011

Abstract

Purpose
The aim of this study was to compare the diagnostic performance of the three software packages 4DMSPECT (4DM), Emory Cardiac Toolbox (ECTb), and Cedars Quantitative Perfusion SPECT (QPS) for quantification of myocardial perfusion scintigram (MPS) using a large group of consecutive patients.

Methods
We studied 1,052 consecutive patients who underwent 2-day stress/rest 99mTc-sestamibi MPS studies. The reference/gold-standard classifications for the MPS studies were obtained from three physicians, with more than 25 years each of experience in nuclear cardiology, who re-evaluated all MPS images. Automatic processing was carried out using 4DM, ECTb, and QPS software packages. Total stress defect extent (TDE) and summed stress score (SSS) based on a 17-segment model were obtained from the software packages. Receiver-operating characteristic (ROC) analysis was performed.

Results
A total of 734 patients were classified as normal and the remaining 318 were classified as having infarction and/or ischemia. The performance of the software packages calculated as the area under the SSS ROC curve were 0.87 for 4DM, 0.80 for QPS, and 0.76 for ECTb (QPS vs. ECTb p = 0.03; other differences p < 0.0001). The area under the TDE ROC curve were 0.87 for 4DM, 0.82 for QPS, and 0.76 for ECTb (QPS vs. ECTb p = 0.0005; other differences p < 0.0001).

Conclusion
There are considerable differences in performance between the three software packages with 4DM showing the best performance and ECTb the worst. These differences in performance should be taken in consideration when software packages are used in clinical routine or in clinical studies.
Comprehensive comparison of three commercial human whole-exome capture platforms
Authors: Asan  , Xu Yu , Jiang Hui , Tyler-Smith Chris , Xue Yali , Jiang Tao , Wang Jiawei , Wu Mingzhi , Liu Xiao , Tian Geng , Wang Jun , Wang Jian , Yang Huangming , Zhang Xiuqing 
Published: September 2011

Abstract
Background
Exome sequencing, which allows the global analysis of protein coding sequences in the human genome, has become an effective and affordable approach to detecting causative genetic mutations in diseases. Currently, there are several commercial human exome capture platforms; however, the relative performances of these have not been characterized sufficiently to know which is best for a particular study.

Results
We comprehensively compared three platforms: NimbleGen's Sequence Capture Array and SeqCap EZ, and Agilent's SureSelect. We assessed their performance in a variety of ways, including number of genes covered and capture efficacy. Differences that may impact on the choice of platform were that Agilent SureSelect covered approximately 1,100 more genes, while NimbleGen provided better flanking sequence capture. Although all three platforms achieved similar capture specificity of targeted regions, the NimbleGen platforms showed better uniformity of coverage and greater genotype sensitivity at 30- to 100-fold sequencing depth. All three platforms showed similar power in exome SNP calling, including medically relevant SNPs. Compared with genotyping and whole-genome sequencing data, the three platforms achieved a similar accuracy of genotype assignment and SNP detection. Importantly, all three platforms showed similar levels of reproducibility, GC bias and reference allele bias.

Conclusions
We demonstrate key differences between the three platforms, particularly advantages of solutions over array capture and the importance of a large gene target set.
The rise and fall of the atypical antipsychotics
Authors: Kendall Tim 
Published: September 2011

SummaryThe antipsychotics brought hope and optimism to people with schizophrenia and to those who care for them. There have been successive classes of antipsychotics used by the pharmaceutical industry to persuade doctors and patients that ‘new’ is better. Evidence is growing that the primary purpose of these fabricated classes is for marketing. It is time we stopped using these expensive labels – they are all just antipsychotics.
Assessing the mental state through a blog: psychiatry in the 21st century?
Authors: Wuyts Philippe , Broome Matthew , McGuire Philip 
Published: September 2011

SummaryBlogs have become increasingly popular over the past 15 years, especially with young people. In this editorial we discuss how the blogosphere is reshaping information exchange in healthcare. More specifically, blogs may change the doctor–patient relationship and provide clinically relevant information to mental health practitioners. However, the use of blogs as a source of clinical material raises ethical and legal issues.
Young people, self-harm and internet forums
Authors: Powell John 
Published: September 2011

SummaryA generation of digital natives are living their lives in fundamentally different ways from previous generations. The rapid advance of the internet and mobile telephones, and the adoption of online social media, mean that substantial parts of the social lives of young people are played out in online settings. This has implications for how young people discuss and seek help for mental health problems. This commentary discusses the role of online forums for young people who self-harm. Practitioners need to understand the potential harms and benefits, and explore how benefits can be harnessed and harms minimised.
Effect of cuticular abrasion and recovery on water loss rates in queens of the desert harvester ant Messor pergandei
Authors: Johnson Robert A. , Kaiser Alexander , Quinlan Michael , Sharp William 
Published: September 2011

SUMMARY
Factors that affect water loss rates (WLRs) are poorly known for organisms in natural habitats. Seed-harvester ant queens provide an ideal system for examining such factors because WLRs for mated queens excavated from their incipient nests are twofold to threefold higher than those of alate queens. Indirect data suggest that this increase results from soil particles abrading the cuticle during nest excavation. This study provides direct support for the cuticle abrasion hypothesis by measuring total mass-specific WLRs, cuticular abrasion, cuticular transpiration, respiratory water loss and metabolic rate for queens of the ant Messor pergandei at three stages: unmated alate queens, newly mated dealate queens (undug foundresses) and mated queens excavated from their incipient nest (dug foundresses); in addition we examined these processes in artificially abraded alate queens. Alate queens had low WLRs and low levels of cuticle abrasion, whereas dug foundresses had high WLRs and high levels of cuticle abrasion. Total WLR and cuticular transpiration were lowest for alate queens, intermediate for undug foundresses and highest for dug foundresses. Respiratory water loss contributed ∼10% of the total WLR and was lower for alate queens and undug foundresses than for dug foundresses. Metabolic rate did not vary across stages. Total WLR and cuticular transpiration of artificially abraded alate queens increased, whereas respiratory water loss and metabolic rate were unaffected. Overall, increased cuticular transpiration accounted for essentially all the increased total water loss in undug and dug foundresses and artificially abraded queens. Artificially abraded queens and dug foundresses showed partial recovery after 14 days.
Cues to body size in the formant spacing of male koala (Phascolarctos cinereus) bellows: honesty in an exaggerated trait
Authors: Charlton Benjamin D. , Ellis William A. H. , McKinnon Allan J. , Cowin Gary J. , Brumm Jacqui , Nilsson Karen , Fitch W. Tecumseh 
Published: September 2011

SUMMARYDetermining the information content of vocal signals and understanding morphological modifications of vocal anatomy are key steps towards revealing the selection pressures acting on a given species' vocal communication system. Here, we used a combination of acoustic and anatomical data to investigate whether male koala bellows provide reliable information on the caller's body size, and to confirm whether male koalas have a permanently descended larynx. Our results indicate that the spectral prominences of male koala bellows are formants (vocal tract resonances), and show that larger males have lower formant spacing. In contrast, no relationship between body size and the fundamental frequency was found. Anatomical investigations revealed that male koalas have a permanently descended larynx: the first example of this in a marsupial. Furthermore, we found a deeply anchored sternothyroid muscle that could allow male koalas to retract their larynx into the thorax. While this would explain the low formant spacing of the exhalation and initial inhalation phases of male bellows, further research will be required to reveal the anatomical basis for the formant spacing of the later inhalation phases, which is predictive of vocal tract lengths of around 50 cm (nearly the length of an adult koala's body). Taken together, these findings show that the formant spacing of male koala bellows has the potential to provide receivers with reliable information on the caller's body size, and reveal that vocal adaptations allowing callers to exaggerate (or maximise) the acoustic impression of their size have evolved independently in marsupials and placental mammals.
Images of health care
Authors: Light Kate , Harden Melissa , Light Kate , Stirk Lisa 
Published: September 2011

‘A picture is worth a thousand words’ captures the idea that well chosen images can increase the successful dissemination of health care messages. This edition of ‘What's on the web’ explores sites that host images suitable for use in presentations and teaching. We have focused on sites that provide images that are in the public domain or have a creative commons license which generally allows non-commercial use. It is important to be careful, however, and it is recommended that you check the copyright situation before using any image from these sites. If you have any comments on this column, please contact:
Thermochemistry and Kinetics for 2-Butanone-3yl Radical (CH3C(=O)CH•CH3) Reactions with O2
Authors: Sebbar Nadia , Bozzelli Joseph W. , Bockhorn Henning 
Published: September 2011

Abstract
Thermochemistry and chemical activation kinetics for the reaction of the secondary radical of 2-butanone, 2-butanone-3yl, with 3O2 are reported. Thermochemical and kinetic parameters are determined for reactants, transition states structures and intermediates. Standard enthalpies and kinetic parameters are evaluated using ab initio (G3MP2B3 and G3), density functional (B3LYP/6-311g(d,p)) calculations and group additivity (GA). The C–H bond energies are determined for the three carbons of the 2-butanone, showing that the C–H bond energy (BE) on the secondary carbon is low at 90.5 kcal mol−1. The CH3C(=O)CH•CH3 radical + O2 association results in chemically-activated peroxy radical with 26 kcal mol−1 excess of energy. The chemically activated adduct can dissociate to butanone-oxy radical + O, react back to butanone-yl + O2, form cyclic ethers or lactones, eliminate HO2 to form an olefinic ketone, or undergo rearrangement via intramolecular abstraction of hydrogen to form hydroperoxide and/or OH radicals. The hydroperoxide-alkyl radical intermediates can undergo further reactions forming cyclic ethers (lactones) and OH radicals. Quantum RRK analysis is used to calculate k(E) and master equation analysis is used for evaluation of pressure fall-off in these chemical activated reaction systems.
Tissue Integration of a New Titanium–Zirconium Dental Implant: A Comparative Histologic and Radiographic Study in the Canine
Authors: Thoma Daniel S. , Jones Archie A. , Dard Michel , Grize Leticia , Obrecht Marcel , Cochran David L. 
Published: September 2011

Background: This study evaluates a newly developed titanium–zirconium implant (TiZr), comparing it to a commercially available pure titanium (Ti) implant subjected to the same surface treatment.Methods: In nine dogs, 12 implants (six TiZr and six Ti) were randomly placed in the mandible with the implant shoulder at the bone crest and subjected to submerged healing. Standardized radiographs were taken after implantation, and at the sacrifice of 2 weeks (three dogs), 4 weeks (three dogs), and 8 weeks (three dogs). Histologic and histomorphometric measurements were performed on non‐decalcified histologic sections. The main outcome measures included the first bone–implant contact (fBIC) and BIC over time. For statistical analysis, Wilcoxon signed‐rank test and mixed model regressions were applied.Results: From baseline to 8 weeks, a mean bone loss of 0.09 ± 0.33 mm for TiZr and a gain of 0.02 ± 0.33 mm for Ti were calculated radiographically. The number of implants with the fBIC coronal to the reference point (implant shoulder) gradually increased over time, reaching 39% of all TiZr implants and 50% of all Ti implants at 8 weeks. The mean fBIC values for Ti and TiZr were 0.29 ± 0.42 mm and 0.26 ± 0.32 mm (2 weeks), −0.01 ± 0.20 mm and 0.10 ± 0.28 mm (4 weeks), and −0.06 ± 0.22 mm and 0.08 ± 0.30 mm (8 weeks), respectively. The mean BIC values peaked at 86.9% ± 6.8% (8 weeks) for TiZr and at 83.4% ± 5.9% (4 weeks) for Ti. No statistically significant differences were observed at any time point.Conclusion: TiZr and Ti bone level implants with chemically‐modified, sandblasted, and acid‐etched surfaces performed similarly in regards to osseointegration in this unloaded canine study.
An Analysis of Authority Issues within National Response Framework ESF #6 ‐ Mass Care, Housing and Human Services Policy
Authors: Smith Steven L. 
Published: September 2011

AbstractThis policy analysis reviews the shared authority provisions between the American Red Cross and FEMA in ESF‐6 of the U.S. National Response Framework (NRF), which covers mass care, housing, and human services. The shared authority base in place prior to Hurricane Katrina contributed to confusion during the response in 2005. FEMA rewrote ESF‐6 in 2008; the role of FEMA and the American Red Cross under this policy continues to be reviewed at the federal level. This study evaluates policy options related to ESF‐6 authority issues using Patton and Sawicki's (1993) policy analysis framework.