bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Powerful and Adaptive Association Test for Rare Variants
Authors: Pan Wei , Kim Junghi , Zhang Yiwei , Shen Xiaotong , Wei Peng 
Published: May 2014

AbstractThis article focuses on conducting global testing for association between a binary trait and a set of rare variants (RVs), although its application can be much broader to other types of traits, common variants (CVs), and gene set or pathway analysis. We show that many of the existing tests have deteriorating performance in the presence of many nonassociated RVs: their power can dramatically drop as the proportion of nonassociated RVs in the group to be tested increases. We propose a class of so-called sum of powered score (SPU) tests, each of which is based on the score vector from a general regression model and hence can deal with different types of traits and adjust for covariates, e.g., principal components accounting for population stratification. The SPU tests generalize the sum test, a representative burden test based on pooling or collapsing genotypes of RVs, and a sum of squared score (SSU) test that is closely related to several other powerful variance component tests; a previous study (Basu and Pan 2011) has demonstrated good performance of one, but not both, of the Sum and SSU tests in many situations. The SPU tests are versatile in the sense that one of them is often powerful, although its identity varies with the unknown true association parameters. We propose an adaptive SPU (aSPU) test to approximate the most powerful SPU test for a given scenario, consequently maintaining high power and being highly adaptive across various scenarios. We conducted extensive simulations to show superior performance of the aSPU test over several state-of-the-art association tests in the presence of many nonassociated RVs. Finally we applied the SPU and aSPU tests to the GAW17 mini-exome sequence data to compare its practical performance with some existing tests, demonstrating their potential usefulness.
Study of grain growth and defect formation in Ag thin films by planar TEM with in-situ heating
Authors: Brossard S. , Martin F. , Bourgon J. 
Published: May 2014

ABSTRACTSilver thin films are used as a functional layer in many applications such as low-emissivity and solar control coatings on glass for insulating windows, as well as transparent conducting electrodes for OLEDs and PV. For these applications, the conductivity of the film is critical; it is linked to the crystallinity and the grain size of silver layers which thickness ranges from 5 to 15nm. Such coatings often undergo thermal treatments up to 700°C aimed at toughening the glass substrate or improving the coating itself by promoting grain growth and curing point defects. This treatment can however dramatically damage the silver layer by inducing the formation of defects in the layer, such as holes or silver domes, decreasing both conductivity and light transmission of the coatings. Because of the extreme thinness of the films (less than 15 nm), the investigation of these phenomena requires in situ imaging at the nanoscale. In this study, grain growth and defects formation were observed in 15 nm-thick Ag films encapsulated with zinc oxide and silicon nitride using Transmission Electron Microscopy with in-situ heating from ambient temperature to 600°C. Significant grain growth was found to occur only from 400°C, and from 500°C holes in the silver layer started to form and grow, as well as thick silver domes formed by dewetting. Irradiation by the electron beam was also found to cause grain growth.
Association of Untreated Metabolic Syndrome With Moderate to Severe Periodontitis in Thai Population
Authors: Thanakun Supanee , Watanabe Hisashi , Thaweboon Sroisiri , Izumi Yuichi 
Published: May 2014

Background: Metabolic syndrome (MetS) correlates with systemic inflammation. A relation of MetS to periodontitis has been reported. This study aims to evaluate whether periodontitis is associated with untreated MetS, plasma adiponectin, and leptin among Thai people.Methods: One hundred twenty‐five participants (aged 35 to 76 years) were recruited. Demographic and biologic data, bleeding on probing (BOP), probing depth (PD), and clinical attachment level (CAL) of all teeth were examined. Plasma adiponectin and leptin levels were measured.Results: Forty‐four participants (35.2%) were healthy, and 81 (64.8%) had MetS. All periodontal conditions (BOP, PD, and CAL) were significantly worse in patients with MetS than healthy participants. After adjustment for confounders, MetS was strongly associated with severe periodontitis (odds ratio [OR] = 3.60, 95% confidence interval [CI]: 1.34 to 9.65). MetS with four to five components had a higher association with periodontitis than did MetS with three components (OR = 5.49, 95% CI: 1.75 to 17.19), whereas each separate component had no association with periodontitis, except for high diastolic blood pressure. Periodontitis was also associated with age (OR = 1.08, 95% CI: 1.01 to 1.14) and education (OR = 3.76, 95% CI: 1.05 to 13.40). The risk of MetS was predicted by body mass index and plasma adiponectin (OR = 1.90, 95% CI: 1.24 to 2.92 and OR = 0.93, 95% CI: 0.88 to 0.98, respectively).Conclusions: There may be a relationship between untreated MetS and periodontitis in Thai people. Periodontal diagnosis should be regularly conducted in patients with MetS.
Generalized Aggressive Periodontitis as a Risk Factor for Dental Implant Failure: A Systematic Review and Meta‐Analysis
Authors: Monje Alberto , Alcoforado Gil , Padial‐Molina Miguel , Suarez Fernando , Lin Guo‐Hao , Wang Hom‐Lay 
Published: May 2014

Background: Dental implant placement is a widely used treatment that provides functional and esthetic resolution for patients suffering from tooth loss. However, the incidence of peri‐implant diseases has been rising recently. Periodontal diseases and peri‐implant diseases share many similarities. Hence, it is important to find out whether patients with aggressive periodontal disease possess a higher risk of developing peri‐implant diseases. The aim of this study is to study whether generalized aggressive periodontitis (GAgP) has similar survival rates (SRs) and marginal bone loss (MBL) when compared with patients with chronic periodontitis (CP) and/or healthy patients (HPs).Methods: An electronic literature search was conducted by one reviewer (AM) in several databases from 2000 to 2013, including MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, and Cochrane Oral Health Group Trials Register databases, for articles written in English up to November 2013. Human clinical trials, either prospective or retrospective, that compared implant SR and MBL in patients with a history of GAgP versus those with CP or HPs were included.Results: A total of six non‐randomized prospective clinical trials met the inclusion criteria. The results showed SRs of 83.3% to 100% (GAgP), 96.4% to 100% (CP), and 96.9% to 100% (HP) over a mean period of 48.01 ± 71.99 months, with an overall risk ratio of 0.96 (95% confidence interval [CI] = 0.91 to 1.01, P = 0.14, GAgP versus HP) and 0.94 (95% CI = 0.87 to 1.01, P = 0.09, GAgP versus CP). However, when the “failure rate” as studied outcome was examined, meta‐analysis presented an overall risk ratio of 4.00 for the comparison between patients with AgP and HPs and an overall risk ratio of 3.97 when compared with patients with CP. The MBL weighted mean difference for each subgroup was 0.15 mm (95% CI = 0.04 to 0.26, HP versus CP), −0.28 mm (95% CI = −0.36 to −0.19, HP versus GAgP), and −0.43 mm (95% CI = −0.53 to −0.33, CP versus GAgP) over a mean period of 30 ± 18 months.Conclusions: Implant placement in patients with a history of GAgP might be considered a viable option to restore oral function with survival outcomes similar to those found in both patients with CP and HPs. However, the risk ratio for failure in patients with AgP is significantly higher when compared with HPs (4.0) and those with CP (3.97).
Depression and Risk Perceptions in Older African Americans With Diabetes
Authors: Rovner Barry W. , Haller Julia A. , Casten Robin J. , Murchison Ann P. , Hark Lisa A. 
Published: May 2014

Objective. The purpose of this study is to describe the impact of depression on perceptions of risks to health, diabetes self-management practices, and glycemic control in older African Americans with type 2 diabetes.
Methods. The authors analyzed data on depression, risk perceptions, diabetes self-management, and A1C in African Americans with type 2 diabetes. T-tests, χ2, and multivariate regression were used to analyze the data.
Results. The sample included 177 African Americans (68% women) whose average age was 72.8 years. Thirty-four participants (19.2%) met criteria for depression. Compared to nondepressed participants, depressed participants scored significantly higher on Personal Disease Risk (the perception of being at increased risk for various medical problems), Environmental Risk (i.e., increased risk for environmental hazards), and Composite Risk Perception (i.e., overall perceptions of increased risk); adhered less to diabetes self-management practices; and had marginally worse glycemic control. Depression and fewer years of education were independent predictors of overall perception of increased health risks.
Conclusion. Almost 20% of older African Americans with type 2 diabetes in this study were depressed. Compared to nondepressed participants, they tended to have fewer years of education, perceived themselves to be at higher risk for multiple health problems, and adhered less to diabetes self-management practices. It is important for diabetes educators to recognize the impact of low education and the fatalistic perceptions that depression engenders in this population.
Sport Science: Ontological and Methodological Considerations
Authors: Pisk Jernej 
Published: May 2014

Abstract
Sport is the research object of variety of sciences. But, what is sport and how to think it? The aim of this article is to give some basic thoughts about the nature of sport and to present, confront and evaluate different concepts of science with their different rival approaches and understanding of sport. In general three major groups of sciences can be differentiated: natural sciences and social sciences which share common quantitative (empirical and mathematical based) methodology of research, and human sciences or humanities with their method of reflection (the analysis of concepts and rational argumentation) which go beyond empirically measurable things. Because of different scientific approaches, different understanding and concepts of sport arise which try to prevail over in society. Our comprehension of sport is therefore greatly influenced by pre-accepted methodological position. If sport is equated with physical human body movement, then natural science with its empirical methodology seems to be adequate way for cognition of sport. For social scientists sport has important role in society, therefore it cannot be reduced to mere “body movement”. But humanists would say that sport is more than “body in movement” with influence in society: sport is a powerful idea or concept which needs a special unempirical method of research. Therefore human sciences with their rational reflection of human (personal) experiences can reveal us additional, but yet familiar dimensions of sport. Although their method is not empirically objective, they can deal with important life matters, moreover, their “a priori” qualitative approach to sport can give meaning and make sense out of sport, reflect about the aim and purpose of sport as well as make some ethical considerations about sport. In the article some examples are given and some problems regarding reduction of sport science to just one scientific approach are considered.
Intraspinal hemangioblastomas: analysis of 92 cases in a single institution
Authors: Deng Xiaofeng , Wang Kai , Wu Liang , Yang Chenlong , Yang Tao , Zhao Lei , Yang Jun , Wang Guihuai , Fang Jingyi , Xu Yulun 
Published: May 2014

Object
Intraspinal hemangioblastomas are relatively uncommon benign tumors. The surgical strategies remain controversial, and the risk factors with regard to clinical outcome are unclear. The purpose of this study was to analyze the clinical characteristics, imaging findings, surgical strategies, and functional outcomes associated with intraspinal hemangioblastomas.

Methods
A series of 92 patients who underwent 102 operations for resection of 116 intraspinal hemangioblastomas at a single institution during 2007–2011 were consecutively enrolled in this study. Of these, 60 patients (65.2%) had sporadic hemangioblastomas and 32 (34.8%) had von Hippel-Lindau disease. Preoperatively, 13 patients underwent digital subtraction angiography (DSA), 15 patients underwent 3D CT angiography (3D CTA), and none underwent preoperative embolization. Clinical characteristics, imaging findings, and operative records were analyzed. The advantages and disadvantages of DSA and 3D CTA were compared. For identification of risk factors that affect prognosis, logistic analysis was performed.

Results
The male/female patient ratio was 1.8:1.0 (59 male and 33 female patients). Of the tumors, 41% were intramedullary, 37% were intramedullary-extramedullary, and 22% were primarily extramedullary. Three-dimensional CTA and DSA did not differ significantly in the ability to identify the feeding arteries (p = 1.000) and image qualities (p = 0.367). However, compared with 3D CTA, the effective x-ray dose of spinal DSA was 2.73 times higher and the mean amount of contrast media injected was 1.88 times higher. Spinal DSA was more time consuming (mean 120 minutes) than 3D CTA (scanning time < 1 minute). No complications were observed after 3D CTA; acute paraparesis developed in 1 patient after DSA.
Gross-total resection was achieved for 109 tumors (94.0%), and resection was subtotal for 7 tumors. Mean duration of follow-up was 50 months (range 24–78 months). At the most recent follow-up visit, the functional outcome was improved for 38 patients (41.3%), remained stable for 40 (43.5%), and deteriorated for 14 (15.2%). Logistic analysis showed that subtotal resection was a risk factor affecting prognosis (p = 0.003, OR 12.833, 95% CI 2.429–67.806).

Conclusions
The authors' study suggests that safe and effective treatment of intraspinal hemangioblastomas can be achieved for most patients, even without preoperative embolization. Gross-total resection, when safe to perform, leads to better outcomes. Compared with spinal DSA, 3D CTA is a promising technique because it is noninvasive, takes less time to perform, requires lower x-ray doses and less contrast media, results in fewer complications, and offers high accuracy for delineating the feeding arteries.
Systemic inflammatory response syndrome in patients with spinal cord injury: does its presence at admission affect patient outcomes?
Authors: Kesani Anil K. , Urquhart Jennifer C. , Bedard Nathan , Leelapattana Pittavat , Siddiqi Fawaz , Gurr Kevin R. , Bailey Christopher S. 
Published: May 2014

Object
The object in this study was to determine whether the presence of systemic inflammatory response syndrome (SIRS) in patients with traumatic spinal cord injury (SCI) on admission is related to subsequent clinical outcome in terms of length of stay (LOS), complications, and mortality.

Methods
The authors retrospectively reviewed the charts of 193 patients with acute traumatic SCI who had been hospitalized at their institution between 2006 and 2012. Patients were excluded from analysis if they had insufficient SIRS data, a cauda equina injury, a previous SCI, a preexisting neurological condition, or a condition on admission that prevented appropriate neurological assessment. Complications were counted only once per patient and were considered minor if they were severe enough to warrant treatment and major if they were life threatening. Demographics, injury characteristics, and outcomes were compared between individuals who had 2 or more SIRS criteria (SIRS+) and those who had 0 or 1 SIRS criterion (SIRS−) at admission. Multivariate logistic regression (enter method) was used to determine the relative contribution of SIRS+ at admission in predicting the outcomes of mortality, LOS in the intensive care unit (ICU), hospital LOS, and at least one major complication during the acute hospitalization. The American Spinal Injury Association Impairment Scale grade and patient age were included as covariates.

Results
Ninety-three patients were eligible for analysis. At admission 47.3% of patients had 2 or more SIRS criteria. The SIRS+ patients had higher Injury Severity Scores (24.3 ±10.6 vs 30.2 ±11.3) and a higher frequency of both at least one major complication during acute hospitalization (26.5% vs 50.0%) and a fracture-dislocation pattern of injury (26.5% vs 59.1%) than the SIRS− patients (p < 0.05 for each comparison). The SIRS+ patients had a longer median hospital stay (14 vs 18 days) and longer median ICU stay (0 vs 5 days). However, mortality was not different between the groups. Having SIRS on admission predicted an ICU LOS > 10 days, hospital LOS > 25 days, and at least one complication during the acute hospitalization.

Conclusions
A protocol to identify SCI patients with SIRS at admission may be beneficial with respect to preventing adverse outcomes and decreasing hospital costs.
Analysis of 30-day readmissions among neurosurgical patients: surgical complication avoidance as key to quality improvement
Authors: Buchanan Colin C. , Hernandez Estebes A. , Anderson Jody M. , Dye Justin A. , Leung Michelle , Buxey Farzad , Bergsneider Marvin , Afsar-Manesh Nasim , Pouratian Nader , Martin Neil A. 
Published: May 2014

Object
In terms of measuring quality of care and hospital performance, an outcome of increasing interest is the 30-day readmission rate. Recent health care policy making has highlighted the necessity of understanding the factors that influence readmission. To elucidate the rate, reason, and predictors of readmissions at a tertiary/quaternary neurosurgical service, the authors studied 30-day readmissions for the Department of Neurosurgery at two University of California, Los Angeles (UCLA), hospitals.

Methods
Over a 3-year period, the authors retrospectively identified adult and pediatric patients who had been discharged from the UCLA Medical Center after having undergone a major neurosurgical procedure and being readmitted within 30 days. Data were obtained on demographics, follow-up findings, diagnosis and reason for readmission, major operations performed, and length of stay during index admission and readmission. Reasons for readmission were broadly categorized into surgical, medical diagnosis/complication, problem associated with the original diagnosis, neurological decompensation, pain management, and miscellaneous. For further characterization, subgroup analysis and in-depth chart review were performed.

Results
Over the study period, 365 (6.9%) of 5569 patients were readmitted within 30 days. The most common diagnosis at index admission was brain tumor (102 patients), followed by CSF shunt malfunction (63 patients). The most common reason for readmission was surgical complication (50.1%). Among those with surgical complications, the largest subgroup consisted of patients with CSF shunt–related problems (77 patients). The second and third largest subgroups were surgical site infection and CSF leakage (41 and 31 patients, respectively). Medical diagnosis/complication was the second most frequent (27.9%) reason for readmission.

Conclusions
Surgical complications seem to be a major reason for readmission at the neurosurgical practice studied. Results indicate that the outcomes that are amenable to and would have the greatest effect on quality improvement are CSF shunt–related complications, surgical site infections, and CSF leaks.
Determinants Associated with Work Participation in Patients with Established Rheumatoid Arthritis Taking Tumor Necrosis Factor Inhibitors
Authors: Manders Sofie H.M. , Kievit Wietske , Braakman-Jansen Annemarie L.M.A. , Brus Herman L.M. , Hendriks Lidy , Fransen Jaap , van de Laar Mart A.F.J. , van Riel Piet L.C.M. 
Published: May 2014

Objective.Reduced work participation (WP) is a common problem for patients with rheumatoid arthritis (RA) and generates high costs for society. Therefore, it is important to explore determinants of WP at the start of tumor necrosis factor inhibitor (TNFi) treatment, and for changes in WP after 2 years of TNFi treatment.Methods.Within the Dutch Rheumatoid Arthritis Monitoring (DREAM) biologic register, WP data were available from 508 patients with RA younger than 65 years and without an (early) retirement pension. WP was registered at start of TNFi treatment and after 2 years of followup and was measured by single patient-reported binary questions whether they had work, paid or voluntary, or had a disability allowance or a retirement pension. Determinants measured at baseline were age, sex, disease duration, functional status [through Health Assessment Questionnaire-Disability Index (HAQ-DI)], 28-joint Disease Activity Score (DAS28), rheumatoid factor, presence of erosions, number of previous disease-modifying antirheumatic drugs, and number of comorbidities. During the 2 years of followup, HAQ-DI response and European League Against Rheumatism response were measured. Univariate analyses (excluded if p value was > 0.2) and multivariate (excluded if p value was > 0.1) logistic regression analyses were used.Results.Determinants associated with WP at baseline were having a better HAQ-DI (OR 0.32, p = 0.000) and male sex (OR 0.65, p = 0.065). After 2 years of TNFi therapy, 11.8% (n = 60) started to work and 13.6% (n = 69) stopped working. Determinants associated with starting to work were better baseline HAQ-DI (OR 0.58), positive RF (OR 2.73), and young age (OR 0.96); and for stopping work, worse baseline HAQ-DI (OR 2.74), low HAQ-DI response (OR 0.31), and comorbidity (OR 2.67), all with p < 0.1.Conclusion.Young patients with RA and a high functional status without any comorbidity will have a better chance of working. This supports the main goal in the management of RA: to suppress disease activity as soon and as completely as possible to prevent irreversible destruction of the joints, and thus maintain a good functional status of the patient. Because of the low proportion of variance explained by the models in this study, other factors besides the ones studied are associated with WP.
La transmission d'entreprise au Québec
Authors: Richer Francine , St-Cyr Louise , Lambaraa Youssef 
Published: May 2014

Résumé Cet article présente les résultats d’une étude réalisée en 2002 qui dressait un portrait de l’expérience « réussie » de dirigeants québécois en matière de transmission d’entreprise. Dans un premier temps, l’article fait état des stratégies déployées par les participants au regard du transfert de propriété et du transfert de direction. Sur le plan du transfert de propriété, les modes d’acquisition et de financement de l’entreprise sont examinés. Quant au transfert de direction, la préparation des successeurs à la fonction de dirigeant et le rôle du prédécesseur après le transfert sont étudiés. Dans un deuxième temps, les résultats sont regroupés selon que les participants ont acquis l’entreprise d’un membre de leur famille ou non. Il ressort de cette étude que les stratégies permettant de réaliser la transmission varient sensiblement en ce qui concerne le transfert de propriété de même que le cheminement de carrière des nouveaux dirigeants et le rôle assumé par les prédécesseurs après le transfert. De plus, il n’existe pas de modèle unique en matière de transmission d’entreprise et il est possible d’équilibrer les choix pour maximiser les chances de réussite.