bluuebunny/crossref_metadata_2025_split huggingface dataset:
Barth syndrome
Authors: Clarke Sarah LN , Bowron Ann , Gonzalez Iris L , Groves Sarah J , Newbury-Ecob Ruth , Clayton Nicol , Martin Robin P , Tsai-Goodman Beverly , Garratt Vanessa , Ashworth Michael , Bowen Valerie M , McCurdy Katherine R , Damin Michaela K , Spencer Carolyn T , Toth Matthew J , Kelley Richard I , Steward Colin G 
Published: February 2013

AbstractFirst described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of thetafazzin(TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing andTAZsequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots.TAZsequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood.
An experimental study on tuned liquid damper for mitigation of structural response
Authors: Bhattacharjee Emili , Halder Lipika , Sharma Richi Prasad 
Published: February 2013

Abstract
This paper investigates the performance of unidirectional tuned liquid damper (TLD) that relies upon the motion of shallow liquid in a rigid tank for changing the dynamic characteristics of a structure and dissipating its vibration energy under harmonic excitation. A series of experimental tests are conducted on a scaled model of structure-tuned liquid damper systems to evaluate their performance under harmonic excitation. One rectangular and one square TLD with various water depth ratios are examined over different frequency ratios, and time histories of accelerations are measured by precisely controlled shaking table tests. The behaviour of TLD is also studied by changing the orientation of the rectangular TLD subjected to the given range of harmonic excitation frequencies. The effectiveness of TLD is evaluated based on the response reduction of the structure. From the study, it is found that for each TLD, there exists an optimum water depth that corresponds to the minimum response amplitude, and the maximum control of vibration is obtained under resonance condition with the attachment of TLD.
Agonist and antagonist binding to the nuclear vitamin D receptor: dynamics, mutation effects and functional implications
Authors: Yaghmaei Sepideh , Roberts Christopher , Ai Rizi , Mizwicki Mathew T , Chang Chia-en A 
Published: February 2013

AbstractPurposeThe thermodynamically favored complex between the nuclear vitamin D receptor (VDR) and 1α,25(OH)2-vitamin D3(1,25D3) triggers a shift in equilibrium to favor VDR binding to DNA, heterodimerization with the nuclear retinoid x receptor (RXR) and subsequent regulation of gene transcription. The key amino acids and structural requirements governing VDR binding to nuclear coactivators (NCoA) are well defined. Yet very little is understood about the internal changes in amino acid flexibility underpinning the control of ligand affinity, helix 12 conformation and function. Herein, we use molecular dynamics (MD) to study how the backbone and side-chain flexibility of the VDR differs when a) complexed to 1α,25(OH)2-vitamin D3(1,25D3, agonist) and (23S),25-dehydro-1α(OH)-vitamin D3-26,23-lactone (MK, antagonist); b) residues that form hydrogen bonds with the C25-OH (H305 and H397) of 1,25D3 are mutated to phenylalanine; c) helix 12 conformation is changed and ligand is removed; and d) x-ray water near the C1- and C3-OH groups of 1,25D3 are present or replaced with explicit solvent.MethodsWe performed molecular dynamic simulations on the apo- and holo-VDRs and used T-Analyst to monitor the changes in the backbone and side-chain flexibility of residues that form regions of the VDR ligand binding pocket (LBP), NCoA surface and control helix 12 conformation.ResultsThe VDR-1,25D3 and VDR-MK MD simulations demonstrate that 1,25D3 and MK induce highly similar changes in backbone and side-chain flexibility in residues that form the LBP. MK however did increase the backbone and side-chain flexibility of L404 and R274 respectively. MK also induced expansion of the VDR charge clamp (i.e. NCoA surface) and weakened the intramolecular interaction between H305---V418 (helix 12) and TYR401 (helix 11). In VDR_FF, MK induced a generally more rigid LBP and stronger interaction between F397 and F422 than 1,25D3, and reduced the flexibility of the R274 side-chain. Lastly the VDR MD simulations indicate that R274 can sample multiple conformations in the presence of ligand. When the R274 is extended, the β-OH group of 1,25D3 lies proximal to the backbone carbonyl oxygen of R274 and the side-chain forms H-bonds with hinge domain residues. This differs from the x-ray, kinked geometry, where the side-chain forms an H-bond with the 1α-OH group. Furthermore, 1,25D3, but not MK was observed to stabilize the x-ray geometry of R274 during the > 30 ns MD runs.ConclusionsThe MD methodology applied herein provides an in silico foundation to be expanded upon to better understand the intrinsic flexibility of the VDR and better understand key side-chain and backbone movements involved in the bimolecular interaction between the VDR and its’ ligands.
Rietveld analysis of XRD patterns of different sizes of nanocrystalline cobalt ferrite
Authors: Kumar Lawrence , Kumar Pawan , Narayan Amarendra , Kar Manoranjan 
Published: February 2013

Abstract
Nanocrystalline cobalt ferrite powder has been synthesised by citrate precursor and co-precipitation methods. Structural characterization of the samples has been carried out using powder X-ray diffraction, Fourier transform infrared spectroscopy (FT-IR) and field emission scanning electron microscope (FE-SEM). Distribution of cations among the two interstitial sites (tetrahedral and octahedral sites) has been estimated by analysing the powder X-ray diffraction patterns by employing Rietveld refinement technique, and the results reveal the existence of samples as a mixed type spinel with cubic structure. It is observed that the distribution of cations and structural parameters are strongly dependent on synthesis method and annealing temperature. The vibrational modes of the octahedral and tetrahedral metal complex in the sample have been examined using FT-IR in the wave number range of 390 to 750 cm−1, and it shows an absorption band within this range, which confirms the spinel structure of the sample. The existence of constituents in the sample, i.e., Co, Fe and O has been authenticated using energy dispersive spectrum with the help of a FE-SEM.
Micelles, mixed micelles, and applications of polyoxypropylene (PPO)-polyoxyethylene (PEO)-polyoxypropylene (PPO) triblock polymers
Authors: Singh Vijender , Khullar Poonam , Dave Pragnesh N , Kaur Navjot 
Published: February 2013

Abstract
This review gives a brief outline of various micellar properties of triblock polymers such as critical micellization concentration, critical micellization temperature, and microviscosity. Detailed discussion of the effect of temperature on micellar properties of various triblock polymer mixtures is given. Applications of triblock polymers in solubilization as drug delivery agents, as nano drug, for the synthesis of gold nanoparticles, for cobalt determination, etc. are discussed.
Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor–Resistant Disease
Authors: Ohashi Kadoaki , Maruvka Yosef E. , Michor Franziska , Pao William 
Published: February 2013

Purpose EGFR-mutant lung cancer was first described as a new clinical entity in 2004. Here, we present an update on new controversies and conclusions regarding the disease. Methods This article reviews the clinical implications of EGFR mutations in lung cancer with a focus on epidermal growth factor receptor tyrosine kinase inhibitor resistance. Results The discovery of EGFR mutations has altered the ways in which we consider and treat non–small-cell lung cancer (NSCLC). Patients whose metastatic tumors harbor EGFR mutations are expected to live longer than 2 years, more than double the previous survival rates for lung cancer. Conclusion The information presented in this review can guide practitioners and help them inform their patients about EGFR mutations and their impact on the treatment of NSCLC. Efforts should now concentrate on making EGFR-mutant lung cancer a chronic rather than fatal disease.
Final Results of Phase III SYMMETRY Study: Randomized, Double-Blind Trial of Elesclomol Plus Paclitaxel Versus Paclitaxel Alone As Treatment for Chemotherapy-Naive Patients With Advanced Melanoma
Authors: O'Day Steven J. , Eggermont Alexander M.M. , Chiarion-Sileni Vanna , Kefford Richard , Grob Jean Jacques , Mortier Laurent , Robert Caroline , Schachter Jacob , Testori Alessandro , Mackiewicz Jacek , Friedlander Philip , Garbe Claus , Ugurel Selma , Collichio Frances , Guo Wei , Lufkin Joelle , Bahcall Safi , Vukovic Vojo , Hauschild Axel 
Published: February 2013

Purpose Elesclomol, an investigational first-in-class compound, induces oxidative stress, triggers mitochondrial-induced apoptosis in cancer cells, and shows synergy with taxanes in tumor models. Following completion of a phase II trial of elesclomol in combination with paclitaxel that met its primary end point of progression-free survival (PFS), this randomized, double-blind, controlled phase III study was conducted to confirm the efficacy and tolerability of elesclomol in combination with paclitaxel versus paclitaxel alone in patients with advanced melanoma. Patients and Methods Patients with stage IV chemotherapy-naive melanoma (n = 651) were randomly assigned 1:1 to paclitaxel 80 mg/m2 either alone or in combination with elesclomol 213 mg/m2 administered weekly for 3 weeks of a 4-week cycle. Patients were stratified by prior systemic treatment, M1 subclass, and baseline lactate dehydrogenase (LDH) levels. The primary end point was PFS. Results The study did not achieve its PFS end point (hazard ratio, 0.89; P = .23). The study was stopped when an early overall survival data analysis indicated an imbalance in total deaths favoring paclitaxel, predominantly in patients with high LDH levels. A prospectively defined subgroup analysis revealed a statistically significant improvement in median PFS for the combination in patients with normal baseline LDH. Conclusion The addition of elesclomol to paclitaxel did not significantly improve PFS in unselected patients with advanced melanoma. The association between baseline LDH and clinical outcomes suggests that LDH may be a predictive factor for treatment with this combination, consistent with recent findings on the association between elesclomol anticancer activity and cellular metabolic state.
Combination of Rituximab, Bendamustine, and Cytarabine for Patients With Mantle-Cell Non-Hodgkin Lymphoma Ineligible for Intensive Regimens or Autologous Transplantation
Authors: Visco Carlo , Finotto Silvia , Zambello Renato , Paolini Rossella , Menin Andrea , Zanotti Roberta , Zaja Francesco , Semenzato Gianpietro , Pizzolo Giovanni , D'Amore Emanuele S.G. , Rodeghiero Francesco 
Published: February 2013

Purpose The combination of bendamustine (B) and rituximab (R) is efficacious, with favorable toxicity in mantle-cell lymphoma (MCL). In this phase II study, we combined cytarabine with R and B (R-BAC) in patients with MCL age ≥ 65 years who were previously untreated or relapsed or refractory (R/R) after one prior immunochemotherapy treatment. Patients and Methods In stage one, we established the maximum-tolerated dose (MTD) of cytarabine in R-BAC. In stage two, patients received R (375 mg/m2 intravenously [IV] on day 1), B (70 mg/m2 IV on days 2 and 3), and cytarabine (MTD IV on days 2 to 4) every 28 days for four to six cycles. The primary end point (overall response rate [ORR]) was evaluated by positron emission tomography. Secondary end points included safety, progression-free survival (PFS), response duration, and overall survival. Results Forty patients (median age, 70 years; 20 previously untreated patients) were enrolled; 93% had Ann Arbor stage III/IV disease; 49% had high Mantle Cell International Prognostic Index scores, with 15% blastoid histology. All R/R patients (35% refractory) had previously received R-containing regimens. The cytarabine MTD used in stage two was 800 mg/m2, and R-BAC was well tolerated, with an 85% treatment completion rate. The major toxicity was transient grades 3 to 4 thrombocytopenia (87% of patients); febrile neutropenia occurred in 12%. The ORR was 100% (95% complete response [CR]) for previously untreated and 80% (70% CR) for R/R patients. The 2-year PFS rate (± standard deviation) was 95% ± 5% for untreated and 70% ± 10% for R/R patients. Conclusion R-BAC is well tolerated and active against MCL.
Clinico-socio-demographic profile and predictors of poor outcome in children with liver abscess: a hospital-based study in northern India
Authors: Ramachandran Smita , Mishra Kirtisudha , Choudhury Subhasis Roy , Saxena Rahul 
Published: February 2013

Summary Liver abscess (LA) is a common health problem among children in tropical countries. We conducted a prospective, observational study at a tertiary-care medical college in order to examine the clinico-socio-demographic profile and assess a possible association between certain predictors of a poor outcome in children admitted with LA. Of a total of 53 children, only 24.4% were malnourished. Staphylococcus aureus was the most common organism observed. Amoebic LA was noted in 7.5%. Right-sided pleural effusion was the most common complication recorded (20.7%). The most successful treatment modality was therapeutic percutaneous aspiration with antimicrobials (90.5% success). An elevated alkaline phosphatase and open surgery were associated with a poor outcome ( P = 0.04 in each case). The rate of hospital admissions of children with LA remains high and most are of pyogenic origin. Of the different treatment modalities, therapeutic aspiration along with antimicrobials achieved the best results. Raised alkaline phosphatase and open surgery were predictors of a poor outcome.
Recent results about the detection of unknown boundaries and inclusions in elastic plates
Authors: Morassi Antonino , Rosset Edi , Vessella Sergio 
Published: February 2013

Abstract.
In this paper we review some recent results concerning
inverse problems for thin elastic plates. The plate is assumed to
be made by non-homogeneous linearly elastic material belonging to
a general class of anisotropy. A first group of results concerns
uniqueness and stability for the determination of unknown
boundaries, including the cases of cavities and rigid inclusions.
In the second group of results, we consider upper and lower
estimates of the area of unknown inclusions given in terms of the
work exerted by a couple field applied at the boundary of the
plate. In particular, we extend previous size estimates for
elastic inclusions to the case of cavities and rigid inclusions.
Safety factor determining for space trusses by non-linear analysis and artificial neural network method
Authors: Yadollahi Mehrzad Mohabbi , Karagöl Fatma , Kaygusuz Mehmet Akif , Polat Rıza , Demirboga Ramazan 
Published: February 2013

AbstractDetermining a feasible safety factor for space trusses is an important phase in structural analysis that could have economic benefits. We know there are many kinds of imperfections in structural elements, which include both material and geometric flaws. Predicting factual behavior of structures is very difficult and occasionally impossible. Elements with initial geometric imperfections in space trusses are a common phenomenon, in addition, equivalent initial geometric imperfections can be applied for modeling of residual stresses or eccentric loading effect. The number of members in the space structures is usually high as is the diversity in the kind of initial imperfection. Therefore, there is a high likelihood that models must be analyzed. The structure must be analyzed with non-linear methods, making these approaches time consuming, and potentially uneconomical. In this study, we selected 30 cases for random analysis based on Monte Carlo methods to find the bearing capacity of the space truss. We attained results from the LUSAS program LUSAS Modeller, Version 13, UK program and these were then exported as input data to the Artificial Neural Network (ANN) program. A reasonable neural network has been found of predicting another 30 cases for load bearing capacity without any analysis and only based on the neural network program. Finally, a new approach for determining the load capacity of the space trusses was extracted and we predicted the occurrence possibility of the convenience load bearing capacity in 60 cases.
Nanofluids
Authors: Prabhu K. Narayan 
Published: February 2013

Description
Eleven peer-reviewed papers focus on the properties of nanofluid technology including: heat transfer/thermal transport, composition, applications, preparation, and characterization. Nanofluids have extensive applications as coolants in the electronic, nuclear, and heat treatment industry. They also enhance the lubricating properties of oils and reduce emissions in automobiles.
Papers cover
Extensive Transcript Diversity and Novel Upstream Open Reading Frame Regulation in Yeast
Authors: Waern Karl , Snyder Michael 
Published: February 2013

Abstract
To understand the diversity of transcripts in yeast (Saccharomyces cerevisiae) we analyzed the transcriptional landscapes for cells grown under 18 different environmental conditions. Each sample was analyzed using RNA-sequencing, and a total of 670,446,084 uniquely mapped reads and 377,263 poly-adenylated end tags were produced. Consistent with previous studies, we find that the majority of yeast genes are expressed under one or more different conditions. By directly comparing the 5′ and 3′ ends of the transcribed regions, we find extensive differences in transcript ends across many conditions, especially those of stationary phase, growth in grape juice, and salt stimulation, suggesting differential choice of transcription start and stop sites is pervasive in yeast. Relative to the exponential growth condition (i.e., YPAD), transcripts differing at the 5′ ends and 3′ ends are predicted to differ in their annotated start codon in 21 genes and their annotated stop codon in 63 genes. Many (431) upstream open reading frames (uORFs) are found in alternate 5′ ends and are significantly enriched in transcripts produced during the salt response. Mutational analysis of five genes with uORFs revealed that two sets of uORFs increase the expression of a reporter construct, indicating a role in activation which had not been reported previously, whereas two other uORFs decreased expression. In addition, RNA binding protein motifs are statistically enriched for alternate ends under many conditions. Overall, these results demonstrate enormous diversity of transcript ends, and that this heterogeneity is regulated under different environmental conditions. Moreover, transcript end diversity has important biological implications for the regulation of gene expression. In addition, our data also serve as a valuable resource for the scientific community.
Cytological Characterization and Allelism Testing of Anther Developmental Mutants Identified in a Screen of Maize Male Sterile Lines
Authors: Timofejeva Ljudmilla , Skibbe David S , Lee Sidae , Golubovskaya Inna , Wang Rachel , Harper Lisa , Walbot Virginia , Cande William Zacheus 
Published: February 2013

AbstractProper regulation of anther differentiation is crucial for producing functional pollen, and defects in or absence of any anther cell type result in male sterility. To deepen understanding of processes required to establish premeiotic cell fate and differentiation of somatic support cell layers a cytological screen of maize male-sterile mutants has been conducted which yielded 42 new mutants including 22 mutants with premeiotic cytological defects (increasing this class fivefold), 7 mutants with postmeiotic defects, and 13 mutants with irregular meiosis. Allelism tests with known and new mutants confirmed new alleles of four premeiotic developmental mutants, including two novel alleles of msca1 and single new alleles of ms32, ms8, and ocl4, and two alleles of the postmeiotic ms45. An allelic pair of newly described mutants was found. Premeiotic mutants are now classified into four categories: anther identity defects, abnormal anther structure, locular wall defects and premature degradation of cell layers, and/or microsporocyte collapse. The range of mutant phenotypic classes is discussed in comparison with developmental genetic investigation of anther development in rice and Arabidopsis to highlight similarities and differences between grasses and eudicots and within the grasses.