bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis
Authors: Kaya Zühre , Niu Dau‐Ming , Yorulmaz Aslı , Tekin Aziz , Gürsel Türkiz 
Published: January 2014

AbstractPhytosterolemia is a rare autosomal recessive sterol storage disease caused by mutations in ABCG5 and ABCG8 genes. A 9‐year‐old Turkish boy who was presented with exclusively hematologic abnormalities had elevated plant sterol levels. Sequencing of ABCG5 and ABCG8 genes revealed a novel homozygous IVS10‐1 G>T mutation in ABCG5 gene. Four of the 13 family members had xanthoma but they had neither hematologic abnormalities nor IVS10‐1 G>T mutation. Ezetimibe therapy reduced plant sterol levels in association with marked clinical improvement. Plant sterol levels and ABCG5/ABCG8 genes should be analysed in patients with unexplained hemolytic anemia and macrothrombocytopenia. Pediatr Blood Cancer 2014; 61:1457–1459. © 2014 Wiley Periodicals, Inc.
Survival from teenage and young adult cancer in Northern England, 1968–2008
Authors: Basta N.O. , James P.W. , Gomez‐Pozo B. , Craft A.W. , Norman P. , McNally R.J.Q. 
Published: January 2014

AbstractBackgroundAlthough cancer is relatively rare in teenagers and young adults (TYAs) aged 15–24 years, it is a major cause of death in this age group. This study investigated survival trends in TYA cancer diagnosed in Northern England, 1968–2008.MethodsFive‐year survival was analyzed using Kaplan–Meier estimation for four successive time periods. Cox regression analysis was used to investigate associations with demographic factors.ResultsThe study included 2,987 cases (1,634 males, 1,353 females). Five‐year survival for all patients with cancer improved greatly from 46% in 1968–1977 to 84% in 1998–2008 (P < 0.001), for patients with leukemia from 2% to 71% (P < 0.001), lymphoma from 66% to 86% (P < 0.001), central nervous system tumors from 53% to 84% (P < 0.001), bone tumors from 29% to 72% (P < 0.001), germ cell tumors from 39% to 94% (P < 0.001), melanoma and skin cancer from 64% to 100% (P < 0.001), and carcinomas from 48% to 80% (P < 0.001). Cox analysis showed that for all patients with cancer, survival was better for females than males (HR = 0.83; 95% CI 0.74–0.94,P < 0.001), for patients aged 20–24 years compared with those aged 15–19 years (HR = 0.84; 95% CI 0.75–0.94,P = 0.002), but survival was worse for patients who resided in more deprived areas (HR = 1.06; 95% CI 1.01–1.11,P = 0.025).ConclusionThere have been large improvements in TYA cancer survival in Northern England over the last four decades. Future work should determine factors that could lead to even better survival, including possible links with delayed diagnosis. Pediatr Blood Cancer 2014;61:901–906. © 2014 Wiley Periodicals, Inc.
Improved screening for cystic fibrosis‐related diabetes by an integrated care team using an algorithm
Authors: Rayas Maria Socorro , Willey‐Courand Donna Beth , Lynch Jane Lockwood , Guajardo Jesus Ramon 
Published: January 2014

SummaryObjectiveTo determine whether implementation of a standardized, clinic‐based algorithm improves compliance with cystic fibrosis‐related diabetes (CFRD) screening guidelines.Study DesignA CFRD screening algorithm was developed as part of a quality improvement initiative through collaboration between the pediatric pulmonary and endocrine divisions and implemented prospectively to children aged 8–17 years in our CF center for a 6‐month period. The primary outcome measure was the percentage rate of CF patients who were appropriately screened with an oral glucose tolerance test (OGTT) during the quality improvement period as compared to the year prior.ResultsNinety‐seven percent (37/38) of OGTTs were appropriately ordered by providers, and 89% (34/38) of patients obtained the OGTT at the completion of the quality improvement period. Compared with the percentage of eligible patients completing the OGTT the year prior, the use of the algorithm significantly improved screening (P = 0.03). Data collected 1‐year post‐algorithm implementation revealed 97% (33/34) of OGTTs were ordered and 79% (27/34) of OGTTs were completed. The use of the algorithm 1‐year post‐implementation did not reveal a significant improvement in screening when compared to the reference year and implementation period (P = 0.08).ConclusionsImplementation of a clinical algorithm resulted in a statistically significant improvement in screening during the quality improvement period, but this improvement was not sustained the following year despite continued physician compliance with ordering the OGTT. Barriers to patient compliance need to be explored. Pediatr Pulmonol. 2014; 49:971–977. © 2014 Wiley Periodicals, Inc.
ERG–SOX4 interaction promotes epithelial–mesenchymal transition in prostate cancer cells
Authors: Wang Lin , Li Yanjiang , Yang Xiaoqing , Yuan Huiqing , Li Xiangzhi , Qi Mei , Chang Yannicca W.Y. , Wang Chunni , Fu WeiWei , Yang Muyi , Zhang Juan , Han Bo 
Published: January 2014

BACKGROUNDApproximately 50% of prostate cancer (PCa) patients in Western countries harbor ERG rearrangement with concurrent ERG overexpression. Overexpression of SOX4 has been shown to play important roles in multiple cancers including PCa. However, the link between these two critical genetic aberrations was unclear.METHODSFluorescence in situ hybridization and immunohistochemistry were utilized to detect ERG rearrangement and SOX4 expression. Cellular function was evaluated by transwell, wound healing assays, and cell adhesion assay, respectively. Interaction between ERG and SOX4 was arrayed by co‐immunoprecipitation, Real‐time PCR, Western blot, and siRNA. Direct binding of ERG to the promoter of SOX4, as well as epigenetic modifications of their promoters after TGF‐β1 treatment was monitored by chromatin immunoprecipitation.RESULTSERG regulated SOX4 expression via binding to its promoter. Silencing both of them showed duplicate effects on restoring the epithelial characteristics, increasing cellular adhesion and decreasing capacity of cellular migration and invasion. ERG and SOX4 have cooperative roles in TGF‐β1‐induced epithelial to mesenchymal transition (EMT) process. In addition, TGF‐β1 stimulation increased levels of chromatin marks associated with active genes (H3K4me3, H416ac), and decreased levels of repressive marks (H3K27me3) at their promoters. 5‐aza and TSA treatment changed expressions of ERG and SOX4. Clinically, overexpression of SOX4 is associated with ERG rearrangement status in PCa and ERG+/SOX4+ defined a subset of PCa patients with poor prognosis.CONCLUSIONOur findings define a key role for ERG/SOX4 in the development of a subset of PCa and highlight the clinical importance of identifying molecularly defined tumor subgroups. Prostate 74:647–658, 2014. © 2014 Wiley Periodicals, Inc.
Post‐traumatic Stress Disorder Symptoms Mediate the Relationship Between Trauma Exposure and Smoking Status in College Students
Authors: Gabert‐Quillen Crystal A. , Selya Arielle , Delahanty Douglas L. 
Published: January 2014

AbstractThe present study examined the relationship between trauma exposure and smoking status and the extent to which post‐traumatic stress disorder symptoms mediated this relationship in a sample of 329 college students who experienced a prior traumatic event. Participants experienced an average of 2.2 prior traumas, and approximately 15% (n = 49) were smokers. Bootstrapping analyses revealed that after controlling for age, gender and time since trauma, post‐traumatic stress disorder symptoms served as a pathway through which trauma exposure increased the risk of smoking [BC 95% CI (0.02, 0.18)]. Results appeared to be due largely to the influence of hyperarousal symptoms [BC 95% CI (0.05, 0.22)]. Comprehensive interventions for undergraduate smokers may be improved by attending to the impact of prior trauma and mental health needs. Copyright © 2014 John Wiley & Sons, Ltd.
Correlation between the effects of local and intracerebroventricular infusions of galanin on 5‐HT release studied by microdialysis, and distribution of galanin and galanin receptors in prefrontal cortex, ventral hippocampus, amygdala, hypothalamus, and striatum of awake rats
Authors: Yoshitake Shimako , Kuteeva Eugenia , Hökfelt Tomas , Mennicken Françoise , Theodorsson Elvar , Yamaguchi Masatoshi , Kehr Jan , Yoshitake Takashi 
Published: January 2014

ABSTRACTThe neuropeptide galanin is implicated in regulation of affective behavior, including modulation of 5‐HT signaling. Here, we investigated, by use of microdialysis in freely moving rats, the effects of intracerebral (i.c.) and intracerebroventricular (i.c.v.) infusions of galanin on basal extracellular 5‐HT levels in medial prefrontal cortex (mPFC), CA1 area of ventral hippocampus (vHPC), central amygdaloid nucleus (CeA), ventromedial hypothalamic nucleus ventrolateral part (VMHvl), and ventromedial caudate putamen (CPu). These results were compared with a parallel immunohistochemical analysis of the distribution of galanin, 5‐HT, and noradrenaline (NA) nerve terminals, and with data on galanin receptors. Galanin i.c.v. significantly decreased the 5‐HT levels in mPFC to 79% and in vHPC to 72%. Local infusions of galanin caused a long‐lasting decrease in 5‐HT levels in vHPC to 88%, and a moderate decrease in CeA, whereas the 5‐HT levels in mPFC significantly increased to 121%. These effects of i.c. galanin correlated well with the density of 5‐HT and galanin nerve terminals and galanin receptors autoradiography in mPFC, vHPC, and CeA. No effects of i.c. or i.c.v. galanin on 5‐HT levels were observed in CPu or VMHvl, in agreement with the low numbers of galanin‐positive terminals and low/moderate galanin receptor density. Galanin was often found to coexist in NA, but could never be detected in 5‐HT terminals. Together the results show a neuroanatomical correlation between the effects of galanin infusions on 5‐HT release and distribution of galanin and its receptors, and that i.c.v. and i.c. administration can give opposite effects on 5‐HT release. Synapse 68:179–193, 2014. © 2014 Wiley Periodicals, Inc.
Coupling Doppler radar‐derived wind maps with operational turbine data to document wind farm complex flows
Authors: Hirth Brian D. , Schroeder John L. , Gunter W. Scott , Guynes Jerry G. 
Published: January 2014

AbstractThe first known dual‐Doppler (DD) measurements collected within a utility‐scale wind farm are presented. Various complex flow features are discussed, including detailed analyses of turbine wakes, turbine‐to‐turbine interaction, high wind speed channels that exist between individual wakes and intermittent gust propagation. The data have been collected using innovative mobile Doppler radar technologies, which allows for a large observational footprint of ~17 km2 in the presented analyses while maintaining spatial resolution of 0.49° in the azimuthal dimension by 15 m in the along‐beam range dimension. The presented DD syntheses provide three‐dimensional fields of the horizontal wind speed and direction with a revisit time of approximately 1 min. DD wind fields are validated with operational turbine data and are successfully used to accurately project composite power output for several turbines. The employed radar technologies, deployment schemes, scanning strategies and subsequent analysis methodologies offer the potential to contribute to the validation and improvement of current wake modeling efforts that influence wind farm design and layout practices, enhanced resource assessment campaigns, and provide real‐time wind maps to drive ‘smart’ wind farm operation. Copyright © 2014 John Wiley & Sons, Ltd.
The relationship between temperament and character and subclinical psychotic-like experiences in healthy adults
Authors: Nitzburg G.C. , Malhotra A.K. , DeRosse P. 
Published: January 2014

AbstractBackgroundConsiderable data support phenomenological and temporal continuity between psychotic disorders and subclinical psychotic-like experiences (PLE's). Although numerous studies have found similar personality correlates for schizophrenia and schizotypal personality disorder patients, their unaffected first-degree relatives, and healthy adults characterized for schizotypal traits, no study has yet investigated personality correlates of PLE's measured by the Community Assessment of Psychic Experiences (CAPE). Our study sought to examine personality correlates of PLE's using the CAPE in healthy adults.MethodThe CAPE and temperament and character inventory (TCI) were administered to 415 healthy adults. Regressions examined links between TCI traits and overall PLE levels as well as positive and negative PLE's separately.ResultsConsistent with past studies, lower self-directedness (SD) and reward dependence (RD) and higher self-transcendence (ST) and harm avoidance (HA) significantly predicted overall PLE levels. Higher ST and persistence (P) and lower SD significantly predicted higher levels of positive PLE's while lower SD and RD and higher HA, ST, and cooperativeness (C) predicted higher levels of negative PLE's.ConclusionsAssociations between TCI and PLE's using the CAPE are strikingly similar to past work in non-clinical and patient samples and provide additional support for phenomenological continuity between psychotic disorders and sub-syndromal psychotic symptoms.
Microvascular network alterations in the retina of patients with Alzheimer's disease
Authors: Cheung Carol Yim‐lui , Ong Yi Ting , Ikram M. Kamran , Ong Shin Yeu , Li Xiang , Hilal Saima , Catindig Joseree‐Ann S. , Venketasubramanian Narayanaswamy , Yap Philip , Seow Dennis , Chen Christopher P. , Wong Tien Yin 
Published: January 2014

AbstractBackgroundAlthough cerebral small‐vessel disease has been implicated in the development of Alzheimer's disease (AD), the cerebral microcirculation is difficult to visualize directly in vivo. Because the retina provides a noninvasive window to assess the microcirculation, we determined whether quantitatively measured retinal microvascular parameters are associated with AD.MethodsWe conducted a case‐control study (case:control matching ≈ 1:2). Retinal photographs were analyzed using a computer program, and a spectrum of quantitative retinal microvascular parameters (caliber, fractal dimension, tortuosity, and bifurcation) were measured. Logistic regression models were used to compute the odds ratio (OR) and 95% confidence interval for AD adjusting for age, gender, ethnicity, smoking, hypertension, diabetes, hypercholesterolemia, and history of myocardial infarction.ResultsWe included 136 demented patients with AD and 290 age‐gender‐race‐matched controls. Persons with narrower venular caliber (OR per standard deviation [SD] decrease, 2.01 [1.27–3.19]), decreased arteriolar and venular fractal dimension (OR per SD decrease 1.35 [1.08–1.68], 1.47 [1.17–1.84], respectively) and increased arteriolar and venular tortuosity (OR per SD increase, 1.84 [1.40–2.31], 1.94 [1.48–2.53], respectively) were more likely to have AD. These associations still persisted when only AD cases without a history of cerebrovascular disease were included.ConclusionsPatients with AD have altered microvascular network in the retina (narrower retinal venules and a sparser and more tortuous retinal vessels) compared with matched nondemented controls. These changes in retinal microvasculature may reflect similar pathophysiological processes in cerebral microvasculature in the brains of patients with AD.
Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion
Authors: Gómez‐Tortosa Estrella , Serrano Soledad , de Toledo María , Pérez‐Pérez Julián , Sainz M. José 
Published: January 2014

AbstractBackgroundIn recent years, a benign variant of frontotemporal lobar degeneration (FTLD) has been recognized, with a particularly slow progression of cognitive deficits and scarce frontotemporal atrophy or hypoperfusion in neuroimaging studies. Patients with FTLD have been considered “phenocopies,” with an underlying nondegenerative neurologic process.ResultsWe report the first family with three affected members having benign FTLD associated with C9ORF72 gene hexanucleotide expansion. Onset of symptoms occurred during the fifth decade, with naming and memory problems as the main features. Two siblings have stabilized at mild cognitive impairment or incipient dementia for more than a decade, and remain quite independent for their activities of daily living at the current ages of 69 and 65 years, respectively. Their mother's cognitive deterioration evolved slowly during >30 years.ConclusionThis family demonstrates that a benign evolution can be part of the growing spectrum of clinical phenotypes associated with neurodegenerative diseases caused by the C9ORF72 hexanucleotide expansion. Screening of this genetic marker should be considered in cases with this slow deterioration, especially if there is a family history.
miR181b is induced by the chemopreventive polyphenol curcumin and inhibits breast cancer metastasis via down‐regulation of the inflammatory cytokines CXCL1 and ‐2
Authors: Kronski Emanuel , Fiori Micol E. , Barbieri Ottavia , Astigiano Simonetta , Mirisola Valentina , Killian Peter H. , Bruno Antonino , Pagani Arianna , Rovera Francesca , Pfeffer Ulrich , Sommerhoff Christian P. , Noonan Douglas M. , Nerlich Andreas G. , Fontana Laura , Bachmeier Beatrice E. 
Published: January 2014

Chronic inflammation is a major risk factor for the development and metastatic progression of cancer. We have previously reported that the chemopreventive polyphenol Curcumin inhibits the expression of the proinflammatory cytokines CXCL1 and ‐2 leading to diminished formation of breast and prostate cancer metastases. In the present study, we have analyzed the effects of Curcumin on miRNA expression and its correlation to the anti‐tumorigenic properties of this natural occurring polyphenol.Using microarray miRNA expression analyses, we show here that Curcumin modulates the expression of a series of miRNAs, including miR181b, in metastatic breast cancer cells. Interestingly, we found that miR181b down‐modulates CXCL1 and ‐2 through a direct binding to their 3′‐UTR. Overexpression or inhibition of miR181b in metastatic breast cancer cells has a significant impact on CXCL1 and ‐2 and is required for the effect of Curcumin on these two cytokines. miR181b also mediates the effects of Curcumin on inhibition of proliferation and invasion as well as induction of apoptosis. Importantly, over‐expression of miR181b in metastatic breast cancer cells inhibits metastasis formation in vivo in immunodeficient mice. Finally, we demonstrated that Curcumin up‐regulates miR181b and down‐regulates CXCL1 and ‐2 in cells isolated from several primary human breast cancers.Taken together, these data show that Curcumin provides a simple bridge to bring metastamir modulation into the clinic, placing it in a primary and tertiary preventive, as well as a therapeutic, setting.
Variable Criteria for Patellofemoral Bracing Among Sports Medicine Professionals
Authors: Solinsky Ryan , Beaupre Gary S. , Fredericson Michael 
Published: January 2014

ObjectiveTo examine whether the frequency of bracing, geographic region, clinical specialty, or percentage of practice devoted to knee pain influences the criteria used by sports medicine professionals to determine whether a brace should be prescribed for treating patients with nontraumatic patellofemoral pain syndrome.DesignCross‐sectional study.SettingSports medicine practices in the United States.ParticipantsA total of 1307 athletic trainers, physical therapists, and sports medicine physicians recruited from the e‐mail listings of the American Medical Society for Sports Medicine, the American Osteopathic Academy of Sports Medicine, the American Physical Therapy Association Sports Physical Therapy Section, the International Patellofemoral Study Group, the International Patellofemoral Retreat list, and National Collegiate Athletic Association Division 1 athletic team registries.InterventionsNot applicable.Main Outcomes MeasuresThirty‐seven potential patellofemoral bracing criteria encompassing history and function, alignment, physical examination, previous treatments, and radiographic evidence.ResultsA total of 1307 of 7999 providers replied (response rate, 16.3%). Mean bracing frequencies were 19.8% for athletic trainers, 13.4% for physical therapists, and 25.1% for physicians. The mean number of total bracing criteria used was 10.5. The 10 most commonly cited criteria for prescribing a patellofemoral brace in descending order of frequency were: (1) hypermobile patella on physical examination; (2) positive J sign on physical examination; (3) failure of previous rehabilitation; (4) pain when performing squats or going up/down stairs on history; (5) success with previous taping; (6) pain with running activities on history; (7) pain with jumping activities on history; (8) increased dynamic Q angle; (9) vastus medialis oblique deficiency in timing or strength; and (10) positive apprehension sign on physical examination. No statistically significant trends were noted with regard to experience or percentage of practice devoted to knee pain. Increased bracing frequency was significantly associated with an increased number of bracing criteria (r = 0.89, P < .0001).ConclusionsThis study identified little overall consensus and showed that significant differences exist in the criteria used to prescribe a brace for patellofemoral pain syndrome among specialties and in relation to bracing frequency.
Optical ages on loess derived from outwash surfaces constrain the advance of the Laurentide Ice Sheet out of the Lake Superior Basin, USA
Authors: Schaetzl Randall J. , Forman Steven L. , Attig John W. 
Published: January 2014

AbstractWe present textural and thickness data on loess from 125 upland sites in west-central Wisconsin, which confirm that most of this loess was derived from the sandy outwash surfaces of the Chippewa River and its tributaries, which drained the Chippewa Lobe of the Laurentide front during the Wisconsin glaciation (MIS 2). On bedrock uplands southeast of the widest outwash surfaces in the Chippewa River valley, this loess attains thicknesses > 5 m. OSL ages on this loess constrain the advance of the Laurentide ice from the Lake Superior basin and into west-central Wisconsin, at which time its meltwater started flowing down the Chippewa drainage. The oldest MAR OSL age, 23.8 ka, from basal loess on bedrock, agrees with the established, but otherwise weakly constrained, regional glacial chronology. Basal ages from four other sites range from 13.2 to 18.5 ka, pointing to the likelihood that these sites remained geomorphically unstable and did not accumulate loess until considerably later in the loess depositional interval. Other OSL ages from this loess, taken higher in the stratigraphic column but below the depth of pedoturbation, range to nearly 13 ka, suggesting that the Chippewa River valley may have remained a loess source for several millennia.
The importance of mentoring and coaching for family businesses
Authors: Núñez-Cacho Utrilla Pedro , Grande Torraleja Félix Ángel 
Published: January 2014

AbstractMentoring and coaching practices are helping businesses grow by supporting the development of their human capital. Family businesses have a unique atmosphere and distinctive features that make it especially important to discover whether mentoring and coaching affect their performance. We have used a resource-based vision and knowledge-based vision to analyse this relationship using structural equation methodology in a sample of 630 companies. The results show that there is a direct relationship between mentoring and coaching and the performance of family businesses.