bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder
Authors: Sundaram Senthil K. , Huq Ahm M. , Sun Zhen , Yu Wu , Bennett Lindsey , Wilson Benjamin J. , Behen Michael E. , Chugani Harry T. 
Published: February 2011

AbstractTen members of a 3‐generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS‐CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the MRPL3, DNAJC13, and OFCC1 genes that segregated with chronic tic phenotype. These variants were not present in 100 control subjects or in dbSNP/1000 Genomes databases. A novel variant in the 5′ untranslated region of the OFCC1 gene was found in 2 TS‐CTD patients from a different pedigree. Further studies will clarify the importance of variants in MRPL3, DNAJC13, and OFCC1 genes in TS. Ann Neurol 2011;69:901–904
Finding a good query‐related topic for boosting pseudo‐relevance feedback
Authors: Ye Zheng , Huang Jimmy Xiangji , Lin Hongfei 
Published: February 2011

AbstractPseudo‐relevance feedback (PRF) via query expansion (QE) assumes that the top‐ranked documents from the first‐pass retrieval are relevant. The most informative terms in the pseudo‐relevant feedback documents are then used to update the original query representation in order to boost the retrieval performance. Most current PRF approaches estimate the importance of the candidate expansion terms based on their statistics on document level. However, a document for PRF may consist of different topics, which may not be all related to the query even if the document is judged relevant. The main argument of this article is the proposal to conduct PRF on a granularity smaller than on the document level. In this article, we propose a topic‐based feedback model with three different strategies for finding a good query‐related topic based on the Latent Dirichlet Allocation model. The experimental results on four representative TREC collections show that QE based on the derived topic achieves statistically significant improvements over a strong feedback model in the language modeling framework, which updates the query representation based on the top‐ranked documents.
Influence of reaction and diffusion on spatial organization of mitochondria and effectiveness factors in skeletal muscle cell design
Authors: Pathi B. , Kinsey S.T. , Locke B.R. 
Published: February 2011

AbstractA mathematical model is developed to analyze the influence of chemical reaction and diffusion processes on the intracellular organization of mitochondria in skeletal muscle cells. The mathematical modeling approach uses a reaction–diffusion analysis of oxygen, ATP, and ADP involved in energy metabolism and mitochondrial function as governed by oxygen supply, volume fraction of mitochondria, and rates of reaction. Superimposed upon and coupled to the continuum species material balances is a cellular automata (CA) approach governing mitochondrial life cycles in response to the metabolic state of the cell. The effectiveness factor (η), defined as the ratio of reaction rate in the system with finite rates of diffusion to those in the absence of any diffusion limitation is used to assess diffusional constraints in muscle cells. The model shows the dramatic effects that the governing parameters have on the mitochondrial cycle of life and death and how these effects lead to changes in the distribution patterns of mitochondria observed experimentally. The model results showed good agreement with experimental results on mitochondrial distributions in mammalian muscle fibers. The η increases as the mitochondrial population is redistributed toward the fiber periphery in response to a decreased availability of oxygen. Modification of the CA parameters so that the mitochondrial lifecycle is more sensitive to the oxygen concentration caused larger mitochondrial shifts to the edge of the cell with smaller changes in oxygen concentration, and thus also lead to increased values of η. The present study shows that variation in oxygen supply, muscle activity and mitochondrial ATP supply influence the η and are the important parameters that can cause diffusion limitations. In order to prevent diffusion constraints, the cell resorts to shifts in their mitochondrial population towards the cell periphery, thus increasing η. Biotechnol. Bioeng. 2011; 108:1912–1924. © 2011 Wiley Periodicals, Inc.
Influence of electrospun fiber mesh size on hMSC oxygen metabolism in 3D collagen matrices: Experimental and theoretical evidences
Authors: Guaccio Angela , Guarino Vincenzo , Perez Marco A. Alvarez‐ , Cirillo Valentina , Netti Paolo A. , Ambrosio Luigi 
Published: February 2011

AbstractThe traditional paradigm of tissue engineering of regenerating in vitro tissue or organs, through the combination of an artificial matrix and a cellular population has progressively changed direction. The most recent concept is the realization of a fully functional biohybrid, where both, the artificial and the biotic phase, concur in the formation of the novel organic matter. In this direction, interest is growing in approaches taking advantage of the control at micro‐ and nano‐scale of cell material interaction based on the realization of elementary tassels of cells and materials which constitute the beginning point for the expansion of 3D more complex structures. Since a spontaneous assembly of all these components is expected, however, it becomes more fundamental than ever to define the features influencing cellular behavior, either they were material functional properties, or material architecture. In this work, it has been investigated the direct effect of electrospun fiber sizes on oxygen metabolism of h‐MSC cells, when any other culture parameter was kept constant. To this aim, thin PCL electrospun membranes, with micro‐ and nano‐scale texturing, were layered between two collagen slices up to create a sandwich structure (µC‐PCL‐C and nC‐PCL‐C). Cells were seeded on membranes, and the oxygen consumption was determined by a phosphorescence quenching technique. Results indicate a strong effect of the architecture of scaffolds on cell metabolism, also revealed by the increasing of HIF1‐α gene expression in nC‐PCL‐C. These findings offer new insights into the role of materials in specific cell activities, also implying the existence of very interesting criteria for the control of tissue growth through the tuning of scaffold architecture. Biotechnol. Bioeng. 2011; 108:1965–1976. © 2011 Wiley Periodicals, Inc.
Expression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG‐iduronate‐2‐sulfatase fusion protein
Authors: Lu Jeff Zhiqiang , Boado Ruben J. , Hui Eric K.‐W. , Zhou Qing‐Hui , Pardridge William M. 
Published: February 2011

AbstractSulfatases are potential therapeutic biopharmaceuticals, as mutations in sulfatase genes leads to inherited disease. Mucopolysaccharidosis (MPS) Type II is caused by mutations in the lysosomal enzyme, iduronate‐2‐sulfatase (IDS). MPS‐II affects the brain and enzyme replacement therapy is ineffective for the brain, because IDS does not cross the blood–brain barrier (BBB). To deliver IDS across the human BBB, the sulfatase has been re‐engineered as an IgG‐sulfatase fusion protein with a genetically engineered monoclonal antibody (MAb) against the human insulin receptor (HIR). The HIRMAb part of the HIRMAb‐IDS fusion protein acts as a molecular Trojan horse to ferry the fused IDS across the BBB. Chinese hamster ovary (CHO) cells were stably transfected to produce the HIRMAb‐IDS fusion protein. The fusion protein was triaged to the lysosomal compartment of MPS‐II fibroblasts based on confocal microscopy, and 300 ng/mL medium concentrations normalized IDS enzyme activity in the cells. The HIRMAb‐IDS fusion protein was tritiated and injected intravenously into the adult Rhesus monkey at a low dose of 0.1 mg/kg. The IDS enzyme activity in plasma was elevated 10‐fold above the endogenous level, and therapeutic plasma concentrations were generated in vivo. The uptake of the HIRMAb‐IDS fusion protein in the brain was sufficiently high to produce therapeutic concentrations of IDS in the brain following IV administration of the fusion protein. Biotechnol. Bioeng. 2011; 108:1954–1964. © 2011 Wiley Periodicals, Inc.
Morbidity and mortality before and after bariatric surgery for morbid obesity compared with the general population
Authors: Plecka Östlund M , Marsk R , Rasmussen F , Lagergren J , Näslund E 
Published: February 2011

Abstract

Background
Bariatric surgery reduces morbidity and mortality in obese subjects, but it is unclear how rates compare with those in the population. The aim was to assess the risk of admission to hospital for obesity-related co-morbidities and overall mortality after bariatric surgery in relation to the general population.

Methods
A nationwide, population-based cohort study was conducted of all patients who underwent bariatric surgery in Sweden between 1980 and 2006. Each patient was compared with ten age- and sex-matched controls randomly selected from the Total Population Register. Hospital admission for co-morbidities was identified through the Patient Register. Cox proportional regression was used to calculate hazard ratios (HRs).

Results
A total of 13 273 patients underwent bariatric surgery between 1980 and 2006. After surgery, the overall adjusted HR remained increased for myocardial infarction (HR 1·56, 95 per cent confidence interval 1·35 to 1·81), angina pectoris (HR 2·05, 1·84 to 2·31), stroke (HR 2·13, 1·88 to 2·42), hypertension (HR 2·80, 2·61 to 3·01), diabetes (HR 2·44, 2·23 to 2·67) and death (HR 1·24, 1·15 to 1·34) in these patients compared with the general population. The 4161 patients who underwent gastric bypass surgery no longer had a higher risk of diabetes (HR 1·23, 0·88 to 1·72) or myocardial infarction (HR 0·78, 0·42 to 1·45), whereas morbidity remained increased after restrictive surgery in 7855 patients. The adjusted mortality remained higher after both gastric bypass and restrictive surgery.

Conclusion
Gastric bypass, but not restrictive surgery, in patients with morbid obesity seems to reduce the risk of diabetes and myocardial infarction to population levels, but the risk of death remains increased.
Written content indicators of problematic approach behavior toward political officials
Authors: Schoeneman Katherine A. , Scalora Mario J. , Darrow Charles D. , McLawsen Julia E. , Chang Grace H. , Zimmerman William J. 
Published: February 2011

AbstractThose charged with assessing and managing threatening communications must utilize risk factors that are behavioral, operational, and reasonably attainable during investigations. This project examined 326 written correspondence cases of an inappropriate, disruptive, or threatening nature that targeted political officials, with the specific goal of identifying written content indicators of problematic approach behavior. Results revealed that subjects who engaged in problematic approach activity toward their targets had more criminal history, past threat assessment activity, familiarity with firearms, past substance use, and indicators of serious mental illness. Approachers were more likely to engage in multiple contact methods, target dispersion, more overall contacts, and prior contact with their target. Numerous content themes were associated with future problematic approach, including longer handwritten correspondence, referencing specific events, making demands, mentioning stressors, focus on personal themes, feeling their rights were violated, and expressing an intention to approach. Harassing, insulting, and threatening language was not related to approach behavior. The implications of these findings are wide‐ranging for the practice of threat assessment. Copyright © 2011 John Wiley & Sons, Ltd.
Management and treatment of stalkers: Problems, options, and solutions
Authors: MacKenzie Rachel D. , James David V. 
Published: February 2011

AbstractLegal sanctions alone are often ineffective in preventing stalking because, in the absence of treatment, the fundamental problems driving the stalker remain unresolved. Criminal justice interventions can be problematic because of difficulties in framing anti‐stalking legislation and inconsistencies in their application. Civil remedies in the form of restraining orders may be ineffective or counterproductive. Treatment of stalkers involves pharmacotherapy when mental illness is present, but the mainstays of treatment for non‐psychotic stalkers are programmes of psychological intervention. These depend on accurate assessment of the risks inherent in stalking and on the identification of psychological deficits, needs, and responsivity factors specific to the individual. Treatment can then be tailored to suit the stalker, thereby enhancing therapeutic efficacy. Developing a framework for identifying the risk factors and shaping the delivery of treatment is crucial. Two service innovations developed specifically to work with stalkers are presented as options to overcome current management deficiencies. Copyright © 2011 John Wiley & Sons, Ltd.
Same‐gender stalking in Sweden and Australia
Authors: Strand Susanne , McEwan Troy E. 
Published: February 2011

AbstractThis study examined the phenomenon of same‐gender stalking and sought to identify differences between same‐ and opposite‐gender stalking cases. Ninety‐four same‐gender and 160 opposite‐gender stalking cases from Sweden and Australia were compared on demographic, offense, clinical, and behavioral characteristics. The groups were largely similar, differing mainly in the nature of the prior relationship between stalker and victim and the stalker's motivation. The most notable distinction was the significantly greater prevalence of ex‐intimate partner stalkers in the opposite‐gender group (65%) versus the same‐gender group (32%), leading to the exclusion of ex‐intimates from the subsequent analysis to remove this potentially confounding variable. Amongst non‐ex‐intimates, same‐gender stalkers were significantly more likely to be female and to stalk out of a sense of resentment and grievance. The results showed that the gender of the victim and perpetrator was less important to the course and conduct of a stalking episode than were the stalker's motivation and the nature of the prior relationship to the victim. Copyright © 2011 John Wiley & Sons, Ltd.
Molecular biology of mammalian bitter taste receptors. A review.
Authors: Meyerhof Wolfgang , Born Stephan , Brockhoff Anne , Behrens Maik 
Published: February 2011

ABSTRACTBitter taste prevents mammals from ingesting food potentially contaminated with bitter‐tasting toxins, which are frequent and structurally diverse. It is mediated by a family of heptahelical G protein‐coupled receptors, called taste 2 receptors or TAS2Rs or T2Rs. The number of TAS2R genes differs greatly across mammalian species, suggesting that some species depend less than others on the protective effect of TAS2Rs. TAS2Rs are glycosylated to become substrates for chaperones required for them to complete biosynthesis and cell surface expression. TAS2Rs recognize several to many bitter compounds, a property that accounts for our ability to detect the numerous bitter substances. Although TAS2Rs oligomerize, heteromers apparently do not increase the number of detectable bitter substances. A small molecule antagonist that inhibits bitter taste in vivo blocks several TAS2Rs in vitro, thereby sharing the property with bitter agonists to interact with several receptors. TAS2Rs possess only one binding pocket, in which they accommodate their ligands by contacting different but overlapping sets of amino acids in the upper parts of transmembrane segments 2–7. Pronounced genetic variability has been observed for human TAS2R genes, including single nucleotide polymorphisms, copy number variations and indels, which determine functionally different receptor variants and influence subjects' sensitivity for the bitterness of specific compounds. However, whether differences in taste sensitivity influence preferences in nutrition remains elusive and is only indirectly supported. Copyright © 2011 John Wiley & Sons, Ltd.
Class C receptor activation mechanisms illustrated by mGlu and GABAB receptors. A review.
Authors: Prézeau Laurent , Rondard Philippe , Goudet Cyril , Kniazeff Julie , Pin Jean‐Philippe 
Published: February 2011

ABSTRACTmGlu and GABAB receptors belong to the class C G protein‐coupled receptors, together with receptors for Ca2+ ions, for pheromone and sweet and umami taste compounds. They form dimers, either homo‐ (mGlu) or heterodimers (GABAB). The mechanism of activation of these receptors has been extensively studied in recent years, leading to a better understanding of the roles of the different domains of both protomers in the dimers. Each protomer is constituted of an extracellular domain (ECD) and a transmembrane domain (7TM) formed by seven transmembrane helices. In the ECD, a so‐called Venus flytrap module (VFT) recognizes the ligand and undergoes a modification of conformation that traps the ligand like a clamshell, and might undergo a second modification of conformation that induces a rotation of both VFTs, leading to the activation of the 7TM of the receptors and then to the activation of the G proteins. Except in GABAB receptor, a cystein‐rich domain (CRD) links the VFT to the 7TM and is likely crucial for the transmission of the active conformation information from the VFT toward the 7TM. The activation of the 7TM involves modification of interactions between TM helices and some crucial residues. Allosteric interactions between the different domains make the functioning of the dimeric receptors quite complex. Last but not least, only one of the two 7TMs is active at a time and able to activate the G proteins, as for the GABAB heterodimer, in which only GABAB2 activates the G proteins, as has also been demonstrated for the homomeric mGlu receptor. This last decade, the discovery of compounds regulating receptors by acting at sites different from the endogenous ligand‐binding site led to the identification of positive and negative allosteric modulators. The general mechanisms are likely similar in most of the class C receptors. Copyright © 2011 John Wiley & Sons, Ltd.
Is birth weight associated with childhood lymphoma? A meta‐analysis
Authors: Papadopoulou C. , Antonopoulos C.N. , Sergentanis T.N. , Panagopoulou P. , Belechri M. , Petridou E.T. 
Published: February 2011

AbstractSeveral risk factors have been identified for childhood lymphomas. The purpose of this meta‐analysis was to synthesize current evidence regarding the association between birth weight with primarily the risk for non‐Hodgkin lymphoma (NHL), given its similarity to acute lymphoblastic leukemia, Hodgkin lymphoma (HL) and any category of lymphoma. Two cohort (278,751 children) and seven case–control studies (2,660 cases and 69,274 controls) were included. Effects estimates regarding NHL, HL and any lymphoma were appropriately pooled using fixed or random effects model in two separate analyses: specifically, high was compared to normal or any birth weight. Similarly, low was compared to normal or any birth weight. No statistically significant association was found between high birth weight, as compared to normal birth weight, and risk for NHL plus Burkitt lymphoma (OR = 1.17, 95% CI = 0.76–1.80, random effects), HL (OR = 0.94, 95% CI = 0.64–1.38, fixed effects) or any plus Burkitt lymphoma (OR = 1.09, 95% CI = 0.76–1.56, fixed effects). A null association emerged when low was compared with normal birth weight for NHL plus Burkitt lymphoma (OR = 1.07, 95% CI = 0.71–1.62, random effects), HL (OR = 0.94, 95% CI = 0.54–1.65, fixed effects) or any plus Burkitt lymphoma (OR = 1.02, 95% CI = 0.79–1.33, fixed effects). Accordingly, no association was found when high or low birth weight was compared to any birth weight. Although current evidence suggests no association, birth weight might be a too crude indicator to reveal a genuine association of fetal growth with specific lymphoma categories; hence, there is an emerging need for use of more elaborate proxies, at least those accounting for gestational week.
Osteoblast-targeted overexpression of PPARγ inhibited bone mass gain in male mice and accelerated ovariectomy-induced bone loss in female mice
Authors: Cho Sun Wook , Yang Jae-Yeon , Her Sun Ju , Choi Hyung Jin , Jung Ju Yeon , Sun Hyun Jin , An Jee Hyun , Cho Hwa Young , Kim Sang Wan , Park Kyong Soo , Kim Seong Yeon , Baek Wook-Young , Kim Jung-Eun , Yim Mijung , Shin Chan Soo 
Published: February 2011

Abstract
PPARγ has critical role in the differentiation of mesenchymal stem cells into adipocytes while suppressing osteoblastic differentiation. We generated transgenic mice that overexpress PPARγ specifically in osteoblasts under the control of a 2.3-kb procollagen type 1 promoter (Col.1-PPARγ). Bone mineral density (BMD) of 6- to 14-week-old Col.1 − PPARγ male mice was 8% to 10% lower than that of their wild-type littermates, whereas no difference was noticed in Col.1-PPARγ female mice. Col.1-PPARγ male mice exhibited decreased bone volume (45%), trabecular thickness (23%), and trabecular number (27%), with a reciprocal increase in trabecular spacing (51%). Dynamic histomorphometric analysis also revealed that bone-formation rate (42%) and mineral apposition rate (32%) were suppressed significantly in Col.1-PPARγ male mice compared with their wild-type littermates. Interestingly, osteoclast number and surface also were decreased by 40% and 58%, respectively, in Col.1-PPARγ male mice. In vitro whole-marrow culture for osteoclastogenesis also showed a significant decrease in osteoclast formation (approximately 35%) with the cells from Col.1-PPARγ male mice, and OPG/RANKL ratio was reduced in stromal cells from Col.1-PPARγ male mice. Although there was no significant difference in BMD in Col.1-PPARγ female mice up to 30 weeks, bone loss was accelerated after ovariectomy compared with wild-type female mice (−3.9% versus −6.8% at 12 weeks after ovariectomy, p &lt; .01), indicating that the effects of PPARγ overexpression becomes more evident in an estrogen-deprived state in female mice. In conclusion, in vivo osteoblast-specific overexpression of PPARγ negatively regulates bone mass in male mice and accelerates estrogen-deficiency-related bone loss in female mice. © 2011 American Society for Bone and Mineral Research
Seasonal variations in red deer (Cervus elaphus) hematology related to antler growth and biometrics measurements
Authors: Gaspar‐López Enrique , Landete‐Castillejos Tomás , Estevez Jose Antonio , Ceacero Francisco , Gallego Laureano , García Andrés Jose 
Published: February 2011

AbstractThe aim of the study was to relate seasonal hematology changes with the rest of physiological variations suffered by red deer, such as antler and biometrics cycle, and to assess the relationship between hematology and the effort performed in antler development. Blood samples were taken from 21 male red deer every 4 weeks during 18 months. Samples were analyzed for the main hematological parameters. Simultaneously, biometrics measurements were taken, such as antler length, body weight, body condition score, testicular diameter (TD), and thoracic and neck girth. All the blood cell types (erythrocytes, leukocytes, and platelets) showed seasonal variations, increasing as antler cleaning approached, as did hematocrit and hemoglobin. The final size of antlers was negatively related to leukocyte count, nonlymphoid leukocyte count, red cell distribution width, mean corpuscular hemoglobin, mean platelet volume, and TD, whereas it was positively related to body condition during antler growth. Huge seasonal variations in some hematological values have been found to be related to changes in antler and biometrics measurements. Since these variations are even greater than the caused by deer handling, they should be taken into account when evaluating hematology in deer populations. J. Exp. Zool. 315A:242–249, 2011. © 2011 Wiley‐Liss, Inc.