bluuebunny/crossref_metadata_2025 huggingface dataset:
The Dynamic Programming Method of Stochastic Differential Game for Functional Forward-Backward Stochastic System
Authors: Ji Shaolin , Sun Chuanfeng , Wei Qingmeng
Published: March 2013

This paper is devoted to a stochastic differential game (SDG) of decoupled functional forward-backward stochastic differential equation (FBSDE). For our SDG, the associated upper and lower value functions of the SDG are defined through the solution of controlled functional backward stochastic differential equations (BSDEs). Applying the Girsanov transformation method introduced by Buckdahn and Li (2008), the upper and the lower value functions are shown to be deterministic. We also generalize the Hamilton-Jacobi-Bellman-Isaacs (HJBI) equations to the path-dependent ones. By establishing the dynamic programming principal (DPP), we derive that the upper and the lower value functions are the viscosity solutions of the corresponding upper and the lower path-dependent HJBI equations, respectively.
Quantitative Trait Loci Analysis of Folate Content in Dry Beans,Phaseolus vulgarisL.
Authors: Khanal S. , Xue J. , Khanal R. , Xie W. , Shi J. , Pauls K. P. , Navabi A.
Published: March 2013

Dry beans (Phaseolus vulgarisL.) contain high levels of folates, yet the level of folate may vary among different genotypes. Folates are essential vitamins and folate deficiencies may lead to a number of health problems. Among the different forms of folates, 5-methyltetrahydrofolate (5MTHF) comprises more than 80% of the total folate in dry beans. The objectives of this paper were to compare selected genotypes of dry beans for the folate content of the dry seeds and to identify quantitative trait loci (QTL) associated with the folate content in a population derived from an inter-gene-pool cross of dry beans. The folate content was examined in three large-seeded (AC Elk, Redhawk, and Taylor) and one medium-seeded (Othello) dry bean genotypes, their six F1(i.e., one-way diallel crosses), and the F2of Othello/Redhawk that were evaluated in the field in 2009. Total folate and 5MTHF contents were measured twice with one-hour time interval. The significant variation (P<0.05) in the folate content was observed among the parental genotypes, their F1progeny, and members of the F2population, ranging from 147 to 345 μg/100 g. There was a reduction in the 5MTHF and total folate contents in the second compared to the first measurement. Dark red kidney variety Redhawk consistently had the highest and pinto Othello had the lowest total folate and 5MTHF contents in both measurements. A single marker QTL analysis identified three QTL for total folate and 5MTHF contents in the first measurement and one marker for the total folate in the second measurement in the F2. These QTL had significant dominance effects and individually accounted for 7.7% to 10.5% of the total phenotypic variance. The total phenotypic variance explained by the four QTL was 18% for 5MTHF and 19% for total folate in the first measurement, but only 8% for total folate in the second measurement.
Brachial-Ankle Pulse Wave Velocity Is the Only Index of Arterial Stiffness That Correlates with a Mitral Valve Indices of Diastolic Dysfunction, but No Index Correlates with Left Atrial Size
Authors: Chow Bryan , Rabkin Simon W.
Published: March 2013

The objective of this study was to determine the optimal assessment of arterial stiffness that relates to diastolic dysfunction. Forty-one patients had measurements of brachial-ankle pulse wave velocity (baPWV), carotid-femoral pulse wave velocity (cfPWV), ankle brachial index (ABI), pulse pressure (PP), and augmentation index (AIx). Diastolic dysfunction was evaluated by echocardiographic indices of the ratio of the peak early diastolic mitral valve velocity and the peak late diastolic velocity (E/Aratio), left atrial diameter, and left atrial volume indexes. There was a significant (P<0.05) correlation between baPWV andE/Aratio with an inverse relationship indicating that higher arterial stiffness was associated with greater diastolic dysfunction. In contrast, there was no significant correlation betweenE/Aratio and cfPWV, PP, ABI, or AIx. After multivariate analysis, the relationship between baPWV andE/Aratio remained significant (P<0.05), independent of age and systolic blood pressure (BP). There were no correlations between any index of vascular stiffness and left atrial dimension or volume. In summary, baPWV correlates with diastolic dysfunction, independent of a patient’s age and BP and is a better indicator of diastolic dysfunction than other indicators of arterial stiffness. baPWV has the utility of infering the presence of left ventricular diastolic dysfunction.
Combined and Interactive Effects of Environmental and GWAS-Identified Risk Factors in Ovarian Cancer
Authors: Pearce Celeste Leigh , Rossing Mary Anne , Lee Alice W. , Ness Roberta B. , Webb Penelope M. ,   for Australian Cancer Study (Ovarian Cancer),   and Australian Ovarian Cancer Study Group, Chenevix-Trench Georgia , Jordan Susan M. , Stram Douglas A. , Chang-Claude Jenny , Hein Rebecca , Nickels Stefan , Lurie Galina , Thompson Pamela J. , Carney Michael E. , Goodman Marc T. , Moysich Kirsten , Hogdall Estrid , Jensen Allan , Goode Ellen L. , Fridley Brooke L. , Cunningham Julie M. , Vierkant Robert A. , Weber Rachel Palmieri , Ziogas Argyrios , Anton-Culver Hoda , Gayther Simon A. , Gentry-Maharaj Aleksandra , Menon Usha , Ramus Susan J. , Brinton Louise , Wentzensen Nicolas , Lissowska Jolanta , Garcia-Closas Montserrat , Massuger Leon F.A.G. , Kiemeney Lambertus A.L.M. , Van Altena Anne M. , Aben Katja K.H. , Berchuck Andrew , Doherty Jennifer A. , Iversen Edwin , McGuire Valerie , Moorman Patricia G. , Pharoah Paul , Pike Malcolm C. , Risch Harvey , Sieh Weiva , Stram Daniel O. , Terry Kathryn L. , Whittemore Alice , Wu Anna H. , Schildkraut Joellen M. , Kjaer Susanne K. ,   for the Ovarian Cancer Association Consortium
Published: March 2013

Background: There are several well-established environmental risk factors for ovarian cancer, and recent genome-wide association studies have also identified six variants that influence disease risk. However, the interplay between such risk factors and susceptibility loci has not been studied.

Methods: Data from 14 ovarian cancer case–control studies were pooled, and stratified analyses by each environmental risk factor with tests for heterogeneity were conducted to determine the presence of interactions for all histologic subtypes. A genetic “risk score” was created to consider the effects of all six variants simultaneously. A multivariate model was fit to examine the association between all environmental risk factors and genetic risk score on ovarian cancer risk.

Results: Among 7,374 controls and 5,566 cases, there was no statistical evidence of interaction between the six SNPs or genetic risk score and the environmental risk factors on ovarian cancer risk. In a main effects model, women in the highest genetic risk score quartile had a 65% increased risk of ovarian cancer compared with women in the lowest [95% confidence interval (CI), 1.48–1.84]. Analyses by histologic subtype yielded risk differences across subtype for endometriosis (Phet < 0.001), parity (Phet < 0.01), and tubal ligation (Phet = 0.041).

Conclusions: The lack of interactions suggests that a multiplicative model is the best fit for these data. Under such a model, we provide a robust estimate of the effect of each risk factor that sets the stage for absolute risk prediction modeling that considers both environmental and genetic risk factors. Further research into the observed differences in risk across histologic subtype is warranted. Cancer Epidemiol Biomarkers Prev; 22(5); 880–90. ©2013 AACR.
Biomarker Discovery for Heterogeneous Diseases
Authors: Wallstrom Garrick , Anderson Karen S. , LaBaer Joshua
Published: March 2013

Background: Modern genomic and proteomic studies reveal that many diseases are heterogeneous, comprising multiple different subtypes. The common notion that one biomarker can be predictive for all patients may need to be replaced by an understanding that each subtype has its own set of unique biomarkers, affecting how discovery studies are designed and analyzed.

Methods: We used Monte Carlo simulation to measure and compare the performance of eight selection methods with homogeneous and heterogeneous diseases using both single-stage and two-stage designs. We also applied the selection methods in an actual proteomic biomarker screening study of heterogeneous breast cancer cases.

Results: Different selection methods were optimal, and more than two-fold larger sample sizes were needed for heterogeneous diseases compared with homogeneous diseases. We also found that for larger studies, two-stage designs can achieve nearly the same statistical power as single-stage designs at significantly reduced cost.

Conclusions: We found that disease heterogeneity profoundly affected biomarker performance. We report sample size requirements and provide guidance on the design and analysis of biomarker discovery studies for both homogeneous and heterogeneous diseases.

Impact: We have shown that studies to identify biomarkers for the early detection of heterogeneous disease require different statistical selection methods and larger sample sizes than if the disease were homogeneous. These findings provide a methodologic platform for biomarker discovery of heterogeneous diseases. Cancer Epidemiol Biomarkers Prev; 22(5); 747–55. ©2013 AACR.
Identification of PTHrP(12-48) as a Plasma Biomarker Associated with Breast Cancer Bone Metastasis
Authors: Washam Charity L. , Byrum Stephanie D. , Leitzel Kim , Ali Suhail M. , Tackett Alan J. , Gaddy Dana , Sundermann Suzanne E. , Lipton Allan , Suva Larry J.
Published: March 2013

Background: Breast cancer bone metastasis is a complication that significantly compromises patient survival due, in part, to the lack of disease-specific biomarkers that allow early and accurate diagnosis.

Methods: Using mass spectrometry protein profiling, plasma samples were screened from three independent breast cancer patient cohorts with and without clinical evidence of bone metastasis.

Results: The results identified 13 biomarkers that classified all 110 patients with a sensitivity of 91% and specificity of 93% [receiver operating characteristics area under the curve (AUC = 1.00)]. The most discriminatory protein was subsequently identified as a unique 12-48aa peptide fragment of parathyroid hormone-related protein (PTHrP). PTHrP(12-48) was significantly increased in plasma of patients with bone metastasis compared with patients without bone metastasis (P < 0.0001). Logistic regression models were used to evaluate the diagnostic potential of PTHrP(12-48) as a single biomarker or in combination with the measurement of the clinical marker N-telopeptide of type I collagen (NTx). The PTHrP(12-48) and NTx logistic regression models were not significantly different and classified the patient groups with high accuracy (AUC = 0.85 and 0.95), respectively. Interestingly, in combination with serum NTx, the plasma concentration of PTHrP(12-48) increased diagnostic specificity and accuracy (AUC = 0.99).

Conclusions: These data show that PTHrP(12-48) circulates in plasma of patient with breast cancer and is a novel and predictive biomarker of breast cancer bone metastasis. Importantly, the clinical measurement of PTHrP(12-48) in combination with NTx improves the detection of breast cancer bone metastasis.

Impact: In summary, we present the first validated, plasma biomarker signature for diagnosis of breast cancer bone metastasis that may improve the early diagnosis of high-risk individuals. Cancer Epidemiol Biomarkers Prev; 22(5); 972–83. ©2013 AACR.
Risk Assessment of Upper Tract Urothelial Carcinoma Related to Aristolochic Acid
Authors: Wu Felicia , Wang Tianxiu
Published: March 2013

Background: Aristolochic acid is a toxin found in plants of the genus Aristolochia, to which humans can be exposed either through certain Chinese herbal medicines or through inadvertent commingling with food crops. Our objective was to estimate cumulative exposures of aristolochic acid associated with increased risk of end-stage renal disease (ESRD), and to conduct a systematic review and meta-analysis on aristolochic acid-induced upper tract urothelial carcinoma (UUC).

Methods: Using epidemiologic studies on aristolochic acid-related disease from multiple different regions of the world, a systematic review was conducted in which relative risks (RR), HRs, and ORs were derived or extracted directly, and a meta-analysis was conducted. One study was used to estimate a benchmark dose lower confidence limit (BMDL) for aristolochic acid-related ESRD.

Results: Mean values for risk ratios, ORs, RRs, or HRs, of UUC caused by aristolochic acid ranged from 1 to 49. A meta-analysis of these studies resulted in a pooled OR of 5.97 [95% confidence interval (CI), 2.78–12.84] for this aristolochic acid-related cancer. The obtained BMDL for aristolochic acid-related ESRD was 0.42 g cumulative aristolochic acid exposure.

Conclusions: Aristolochic acid exposure is significantly associated with an increased risk of UUC, and there is a dose-dependent relationship between cumulative aristolochic acid exposure and ESRD risk.

Impact: Individuals who use certain Chinese herbal medicines may significantly increase their risk of developing UUC and/or ESRD, as would individuals who are inadvertently exposed to aristolochic acid through commingling of Aristolochia plants with harvested food crops. Cancer Epidemiol Biomarkers Prev; 22(5); 812–20. ©2013 AACR.
Cultivating Cohort Studies for Observational Translational Research
Authors: Ransohoff David F.
Published: March 2013

Background: “Discovery” research about molecular markers for diagnosis, prognosis, or prediction of response to therapy has frequently produced results that were not reproducible in subsequent studies. What are the reasons, and can observational cohorts be cultivated to provide strong and reliable answers to those questions?

Experimental Methods: Selected examples are used to illustrate: (i) what features of research design provide strength and reliability in observational studies about markers of diagnosis, prognosis, and response to therapy? (ii) How can those design features be cultivated in existing observational cohorts, for example, within randomized controlled clinical trial (RCT), other existing observational research studies, or practice settings like health maintenance organization (HMOs)?

Results: Examples include a study of RNA expression profiles of tumor tissue to predict prognosis of breast cancer, a study of serum proteomics profiles to diagnose ovarian cancer, and a study of stool-based DNA assays to screen for colon cancer. Strengths and weaknesses of observational study design features are discussed, along with lessons about how features that help assure strength might be “cultivated” in the future.

Conclusions and Impact: By considering these examples and others, it may be possible to develop a process of “cultivating cohorts” in ongoing RCTs, observational cohort studies, and practice settings like HMOs that have strong features of study design. Such an effort could produce sources of data and specimens to reliably answer questions about the use of molecular markers in diagnosis, prognosis, and response to therapy. Cancer Epidemiol Biomarkers Prev; 22(4); 481–4. ©2013 AACR.
Transforming Epidemiology for 21st Century Medicine and Public Health
Authors: Khoury Muin J. , Lam Tram Kim , Ioannidis John P.A. , Hartge Patricia , Spitz Margaret R. , Buring Julie E. , Chanock Stephen J. , Croyle Robert T. , Goddard Katrina A. , Ginsburg Geoffrey S. , Herceg Zdenko , Hiatt Robert A. , Hoover Robert N. , Hunter David J. , Kramer Barnet S. , Lauer Michael S. , Meyerhardt Jeffrey A. , Olopade Olufunmilayo I. , Palmer Julie R. , Sellers Thomas A. , Seminara Daniela , Ransohoff David F. , Rebbeck Timothy R. , Tourassi Georgia , Winn Deborah M. , Zauber Ann , Schully Sheri D.
Published: March 2013

In 2012, the National Cancer Institute (NCI) engaged the scientific community to provide a vision for cancer epidemiology in the 21st century. Eight overarching thematic recommendations, with proposed corresponding actions for consideration by funding agencies, professional societies, and the research community emerged from the collective intellectual discourse. The themes are (i) extending the reach of epidemiology beyond discovery and etiologic research to include multilevel analysis, intervention evaluation, implementation, and outcomes research; (ii) transforming the practice of epidemiology by moving toward more access and sharing of protocols, data, metadata, and specimens to foster collaboration, to ensure reproducibility and replication, and accelerate translation; (iii) expanding cohort studies to collect exposure, clinical, and other information across the life course and examining multiple health-related endpoints; (iv) developing and validating reliable methods and technologies to quantify exposures and outcomes on a massive scale, and to assess concomitantly the role of multiple factors in complex diseases; (v) integrating “big data” science into the practice of epidemiology; (vi) expanding knowledge integration to drive research, policy, and practice; (vii) transforming training of 21st century epidemiologists to address interdisciplinary and translational research; and (viii) optimizing the use of resources and infrastructure for epidemiologic studies. These recommendations can transform cancer epidemiology and the field of epidemiology, in general, by enhancing transparency, interdisciplinary collaboration, and strategic applications of new technologies. They should lay a strong scientific foundation for accelerated translation of scientific discoveries into individual and population health benefits. Cancer Epidemiol Biomarkers Prev; 22(4); 508–16. ©2013 AACR.
A Review of NCI's Extramural Grant Portfolio: Identifying Opportunities for Future Research in Genes and Environment in Cancer
Authors: Ghazarian Armen A. , Simonds Naoko I. , Bennett Kelly , Pimentel Camilla B. , Ellison Gary L. , Gillanders Elizabeth M. , Schully Sheri D. , Mechanic Leah E.
Published: March 2013

Background: Genetic and environmental factors jointly influence cancer risk. The NIH has made the study of gene–environment (GxE) interactions a research priority since the year 2000.

Methods: To assess the current status of GxE research in cancer, we analyzed the extramural grant portfolio of the National Cancer Institute (NCI) from Fiscal Years 2007 to 2009. Publications attributed to selected grants were also evaluated.

Results: From the 1,106 research grants identified in our portfolio analysis, a random sample of 450 grants (40%) was selected for data abstraction; of these, 147 (33%) were considered relevant. The most common cancer type was breast (20%, n = 29), followed by lymphoproliferative (10%, n = 14), colorectal (9%, n = 13), melanoma/other skin (9%, n = 13), and lung/upper aerodigestive tract (8%, n = 12) cancers. The majority of grants were studies of candidate genes (68%, n = 100) compared with genome-wide association studies (GWAS) (8%, n = 12). Approximately one-third studied environmental exposures categorized as energy balance (37%, n = 54) or drugs/treatment (29%, n = 43). From the 147 relevant grants, 108 publications classified as GxE or pharmacogenomic were identified. These publications were linked to 37 of the 147 grant applications (25%).

Conclusion: The findings from our portfolio analysis suggest that GxE studies are concentrated in specific areas. There is room for investments in other aspects of GxE research, including, but not limited to developing alternative approaches to exposure assessment, broadening the spectrum of cancer types investigated, and conducting GxE within GWAS.

Impact: This portfolio analysis provides a cross-sectional review of NCI support for GxE research in cancer. Cancer Epidemiol Biomarkers Prev; 22(4); 501–7. ©2013 AACR.
Emerging Effects of Sevelamer in Chronic Kidney Disease
Authors: Ikee Ryota , Tsunoda Masataka , Sasaki Naomi , Sato Naritsugu , Hashimoto Nobuo
Published: March 2013

Sevelamer, a non-absorbable anion exchange resin, is used to control hyperphosphatemia in chronic kidney disease (CKD) by binding to dietary phosphate in the gastrointestinal tract. Lipid-lowering effect is a widely recognized pleiotropic effect of sevelamer. In addition, many studies have reported that sevelamer leads to reduced vascular calcification compared with calcium-containing phosphate binders, which is attributed to the improved lipid profiles and decreased calcium load. In addition, recent studies have suggested novel pleiotropic effects on bone structure, inflammation, oxidative stress, anemia, fetuin-A, and trace element metabolism in CKD patients. All of these effects have the potential to suppress the development/progression of cardiovascular lesions and reduce mortality. This review summarizes novel findings from recent studies and discusses the potential pleiotropic effects of sevelamer on non-traditional cardiovascular risk factors in CKD patients.
Perioperative Complications after Radical Prostatectomy: Open versus Robot-Assisted Laparoscopic Approach
Authors: Froehner Michael , Novotny Vladimir , Koch Rainer , Leike Steffen , Twelker Lars , Wirth Manfred P.
Published: March 2013

Background: The best technique of radical prostatectomy - open versus robot-assisted approach - is controversially discussed. In this study, we compared the complication rates of open and robot-assisted radical prostatectomy during the introduction and subsequent routine use of a da Vinci® robotic device while open surgery remained the standard approach. Patients and Methods: Between January 1st, 2006, and June 4th, 2012, 2,754 men underwent radical prostatectomy at our department. Among them, 317 received robot-assisted and 2,438 open surgery. According to the requirements for prostate cancer centers certified by the Deutsche Krebsgesellschaft (German Cancer Society), a prospective database recording perioperative complications was built up. The complication rates of open and robot-assisted radical prostatectomy were compared with the χ2 or Fisher exact test. The distributions of quantitative variables were compared with U tests. Results: Whereas the demographic factors favored patients selected for robot-assisted radical prostatectomy, there were no differences between open and robot-assisted surgery concerning length of stay, autologous blood transfusion rates and the incidence of perioperative complications. Conclusions: Open and robot-assisted radical prostatectomy had comparable complication rates. With better patient- and tumor-related parameters as well as decreasing transfusion rates in the robot-assisted subgroup, this observation might reflect the learning curves of the involved robotic surgeons.
HIV-1 Seroprevalence among Pregnant Women in Rural Uganda: A Longitudinal Study over Fifteen Years
Authors: Reuschel E. , Tibananuka S. , Seelbach-Goebel B.
Published: March 2013

Introduction: In order to determine the development of the prevalence of HIV infection in rural Western Uganda, data of epidemiological studies conducted in 2001 and 2007 were compared to study data from 1993. Methods: In 2001 (n = 466) and in 2007 (n = 486), one group each of clinically healthy pregnant women of a local prenatal care department were enrolled in the study and anonymously screened for HIV-1. For both groups, informed consent was obtained prior to enrolment. Testing for HIV was done by enzyme-linked immunosorbent assay (ELISA) and confirmed by Western blot. In addition, age and antibodies against syphilis were determined as risk factors of HIV infection. Results: The seroprevalence of HIV-1 infection did not decrease significantly over this time period, dropping from 28.3 to 25.1% between 2001 and 2007, but the prevalence of syphilis antibodies decreased from 27.9 to 11.1%. The data of 2001 and 2007 were compared to a third cohort from 1993, in which 21.5% of pregnant women were HIV-1-positive and 31.1% were Treponema pallidum hemagglutination assay (TPHA)-positive. Conclusion: The current prevalence of HIV-1 infection in Uganda is still high and there is a need for further promotion of HIV prevention and control services.
Matched-Pair Analysis in Patients with Advanced Oropharyngeal Cancer: Surgery versus Concurrent Chemoradiotherapy
Authors: Kano Satoshi , Homma Akihiro , Hayashi Ryuichi , Kawabata Kazuyoshi , Yoshino Kunitoshi , Iwae Shigemichi , Hasegawa Yasuhisa , Nibu Kenichi , Kato Takakuni , Shiga Kiyoto , Matsuura Kazuto , Monden Nobuya , Fujii Masato
Published: March 2013

Objective: The current study aimed to compare the therapeutic outcomes of surgery with those of chemoradiation for patients with advanced oropharyngeal cancer (OPC). Methods: The data for 523 patients with previously untreated OPC were obtained from 12 institutions belonging to the Head and Neck Cancer Study Group in the Japan Clinical Oncology Group from April 2005 to March 2007. In this study, we matched a group of patients who underwent surgery with a second group treated with chemoradiation according to age, gender, subsite, and T and N classification, and analyzed the overall survival, progression-free survival, local control and swallowing function. Results: The final matched-pair analysis included 186 patients. The 5-year overall survival, progression-free survival and local control rates were 69.8 and 71.4% (p = 0.762), 51.0 and 54.4% (p = 0.531), and 75.2 and 80.3% (p = 0.399), respectively, in patients treated with surgery and those treated with chemoradiation. Swallowing function in patients treated with chemoradiation was significantly better than that in patients treated with surgery (p = 0.015). Conclusion: Although this study was not randomized, this matched-pair analysis of patients treated with surgery or chemoradiation showed that chemoradiation is as effective as surgery in the treatment of OPC.
Gene Expression Patterns of Insulin-Like Growth Factor 2 in Human Uterine Fibroid Tissues: A Genetic Study with Clinical Correlations
Authors: Csatlós Éva , Rigó Jr. János , Laky Marcella , Joó József Gábor
Published: March 2013

Background/Aims: We investigated insulin-like growth factor 2 (IGF-2) gene activity in human uterine fibroid tissue. Results of the genetic testing were correlated with clinical data. Methods: We obtained samples from patients treated for uterine fibroid and from patients undergoing hysterectomy due to other indications (control group). The examined group (with fibroid) contained 101 cases, while the control group was similar with 110 patients. Gene expression values were determined using the standard PCR technique. Clinical data were available from the computer database of the department. Results: IGF-2 gene expression was significantly higher in the fibroid group. There was no correlation between increase in gene activity and the number of tumors. History of previous uterine fibroid did not seem to predict IGF-2 gene activity in the current fibroid tumor tissue. IGF-2 gene expression did not correlate with cumulative duration of lactation following prior pregnancies. Conclusion: IGF-2 gene activity is significantly increased in leiomyoma tissue compared to normal myometrium. Familial aggregation of uterine fibroids is not significantly associated with increased IGF-2 gene activity; other genes may have a stronger etiological role. It appears that the genetic factors potentially important in the development of familiar uterine leiomyoma are not related to the IGF-2 gene.
Supernumerary Ring Chromosome: An Etiology for Pallister-Killian Syndrome?
Authors: Lloveras E. , Canellas A. , Cirigliano V. , Català V. , Cerdan C. , Plaja A.
Published: March 2013

Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identification of marker chromosomes in some cases. We describe an atypical case of Pallister-Killian syndrome (PKS) detected at prenatal diagnosis with a very unusual cytogenetic presentation: a supernumerary ring chromosome including two copies of 12p. A similar anomaly described in a postnatal patient suggests ring chromosome as a possible cause of PKS. Extra ring chromosomes might be a more common etiology for PKS than previously thought, given the difficulty in their characterization before the advent of aCGH.
Level of Empathy among Medical Students in Kuwait University, Kuwait
Authors: Hasan S. , Al-Sharqawi N. , Dashti F. , AbdulAziz M. , Abdullah A. , Shukkur M. , Bouhaimed M. , Thalib L.
Published: March 2013

Objectives: To evaluate the level of empathy among medical students in Kuwait University Medical School and its association with sociodemographic factors, stress levels and personality. Subjects and Methods: A cross-sectional survey of 264 medical students was conducted in the Faculty of Medicine, Kuwait University. Empathy levels were measured using the Jefferson Scale, personality was assessed using the Zuckerman-Kuhlman Personality Scale and the Perceived Stress Scale was used to measure stress levels. Factors associated with empathy were evaluated using t test/ANOVA for categorical variables and correlation for continuous predictors. Results: Mean empathy score was 104.6 ± 16.3. Empathy scores were significantly associated with gender, year of study, mother's level of education, household income, satisfactory relationship with the mother and stress levels. Male medical students in their clinical years also had significantly lower empathy levels. However, factors such as grade point average, desired specialty, marital status of parents, father's educational level and relationship with father were not significantly (p > 0.05) associated with levels of empathy. Stress scores were significantly and positively associated with empathy (r = 0.13; p = 0.041). Conclusion: Medical students in Kuwait University had low empathy level and this may be a cause for concern; as such we suggest a possible inclusion of emphasis on empathy in the curriculum.
Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk
Authors: Ritchie Marylyn D. , Denny Joshua C. , Zuvich Rebecca L. , Crawford Dana C. , Schildcrout Jonathan S. , Bastarache Lisa , Ramirez Andrea H. , Mosley Jonathan D. , Pulley Jill M. , Basford Melissa A. , Bradford Yuki , Rasmussen Luke V. , Pathak Jyotishman , Chute Christopher G. , Kullo Iftikhar J. , McCarty Catherine A. , Chisholm Rex L. , Kho Abel N. , Carlson Christopher S. , Larson Eric B. , Jarvik Gail P. , Sotoodehnia Nona , Manolio Teri A. , Li Rongling , Masys Daniel R. , Haines Jonathan L. , Roden Dan M.
Published: March 2013

Background—

ECG QRS duration, a measure of cardiac intraventricular conduction, varies ≈2-fold in individuals without cardiac disease. Slow conduction may promote re-entrant arrhythmias.

Methods and Results—

We performed a genome-wide association study to identify genomic markers of QRS duration in 5272 individuals without cardiac disease selected from electronic medical record algorithms at 5 sites in the Electronic Medical Records and Genomics (eMERGE) network. The most significant loci were evaluated within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium QRS genome-wide association study meta-analysis. Twenty-three single-nucleotide polymorphisms in 5 loci, previously described by CHARGE, were replicated in the eMERGE samples; 18 single-nucleotide polymorphisms were in the chromosome 3
SCN5A
and
SCN10A
loci, where the most significant single-nucleotide polymorphisms were rs1805126 in
SCN5A
with
P
=1.2×10
−8
(eMERGE) and
P
=2.5×10
−20
(CHARGE) and rs6795970 in
SCN10A
with
P
=6×10
−6
(eMERGE) and
P
=5×10
−27
(CHARGE). The other loci were in
NFIA
, near
CDKN1A
, and near
C6orf204.
We then performed phenome-wide association studies on variants in these 5 loci in 13859 European Americans to search for diagnoses associated with these markers. Phenome-wide association study identified atrial fibrillation and cardiac arrhythmias as the most common associated diagnoses with
SCN10A
and
SCN5A
variants.
SCN10A
variants were also associated with subsequent development of atrial fibrillation and arrhythmia in the original 5272 “heart-healthy” study population.

Conclusions—

We conclude that DNA biobanks coupled to electronic medical records not only provide a platform for genome-wide association study but also may allow broad interrogation of the longitudinal incidence of disease associated with genetic variants. The phenome-wide association study approach implicated sodium channel variants modulating QRS duration in subjects without cardiac disease as predictors of subsequent arrhythmias.
Quantitative Video-Oculography to Help Diagnose Stroke in Acute Vertigo and Dizziness
Authors: Newman-Toker David E. , Saber Tehrani Ali S. , Mantokoudis Georgios , Pula John H. , Guede Cynthia I. , Kerber Kevin A. , Blitz Ari , Ying Sarah H. , Hsieh Yu-Hsiang , Rothman Richard E. , Hanley Daniel F. , Zee David S. , Kattah Jorge C.
Published: March 2013

Background and Purpose—

Strokes can be distinguished from benign peripheral causes of acute vestibular syndrome using bedside oculomotor tests (head impulse test, nystagmus, test-of-skew). Using head impulse test, nystagmus, test-of-skew is more sensitive and less costly than early magnetic resonance imaging for stroke diagnosis in acute vestibular syndrome but requires expertise not routinely available in emergency departments. We sought to begin standardizing the head impulse test, nystagmus, test-of-skew diagnostic approach for eventual emergency department use through the novel application of a portable video-oculography device measuring vestibular physiology in real time. This approach is conceptually similar to ECG to diagnose acute cardiac ischemia.

Methods—

Proof-of-concept study (August 2011 to June 2012). We recruited adult emergency department patients with acute vestibular syndrome defined as new, persistent vertigo/dizziness, nystagmus, and (1) nausea/vomiting, (2) head motion intolerance, or (3) new gait unsteadiness. We recorded eye movements, including quantitative horizontal head impulse testing of vestibulo-ocular-reflex function. Two masked vestibular experts rated vestibular findings, which were compared with final radiographic gold-standard diagnoses. Masked neuroimaging raters determined stroke or no stroke using magnetic resonance imaging of the brain with diffusion-weighted imaging obtained 48 hours to 7 days after symptom onset.

Results—

We enrolled 12 consecutive patients who underwent confirmatory magnetic resonance imaging. Mean age was 61 years (range 30–73), and 10 were men. Expert-rated video-oculography–based head impulse test, nystagmus, test-of-skew examination was 100% accurate (6 strokes, 6 peripheral vestibular).

Conclusions—

Device-based physiological diagnosis of vertebrobasilar stroke in acute vestibular syndrome should soon be possible. If confirmed in a larger sample, this bedside eye ECG approach could eventually help fulfill a critical need for timely, accurate, efficient diagnosis in emergency department patients with vertigo or dizziness who are at high risk for stroke.
Towards a History of Presence: Husserl’s Intersubjectivity and Rouch’s Montage
Authors: Redfield James Adam
Published: March 2013

Abstract

This paper proposes a new phenomenological approach to social history by clarifying, critiquing and developing key insights from Husserl’s late work. First, it clarifies how Husserl began to refute phenomenology’s so-called solipsism and ahistoricality by advancing a concept of history that integrates subjective, intersubjective and communal organizations of experience. This concept, his “history of presence”, can be called a “temporal mode of oriented constitution”. Its value is to show how a single recursive series of determinations organizes a diverse set of epistemic norms, personal memories, and intersubjective apperceptions. As we analyze each moment of this series, the history of presence emerges as highly relevant to social inquiry, inasmuch as it highlights the roles of intersubjective awareness and shared “world-time”. Second, however, the paper shows that Husserl grounded his history, not in this self-other-world triad, but in metaphysical foundations. By falling back on an atemporal principle of identity, Husserl’s thirst for Cartesian certainty obscured some of his insights. To develop these, the paper concludes with a new look at Les maîtres fous, a famous and controversial ethnographic film by Jean Rouch. Much of Rouch’s film echoes Husserl’s own problems, but Rouch’s use of montage replaces metaphysics with rhythm, identity with alterity, hegemony with mimicry, harmonious perception with dissonant yet generative apperception. Thus, Rouch dramatizes Husserl’s relevance to the phenomenology of social history. This paper’s internal critique and cross-cultural juxtaposition of Husserl’s late work portrays such relevance more accurately than Derrida’s uncharitable “metaphysics of presence” critique.
Aesthetic Experience, Subjective Historical Experience and the Problem of Constructivism
Authors: Clark Jonathan Owen
Published: March 2013

Abstract

This article takes as its starting point the recent work of Frank Ankersmit on subjective historical experience. Such an experience, which Ankersmit describes as a ‘sudden obliteration of the rift between present and past’ is connected strongly with the Deweyan theory of art as experiential, which contains an account of aesthetic experience as affording a similar breakdown in the polarization of the subject and object of experience. The article shows how other ideas deriving from the phenomenological tradition and the philosophy of perception can fruitfully be applied to the same terrain, and an account of aesthetic experience is built up that stresses embodied, differential and virtual aspects in the perception of aesthetic objects. The disruption and/or enhancement of these aisthetic aspects of perception, coupled with the self-conscious reflection thereby occasioned, is put forward as an account of aesthetic experience that links Ankersmit’s ideas with those of others, and a critical reading is made of a section of Ankersmit’s Sublime Historical Experience that centers on his experience of a painting by Francesco Guardi. The final section aims at strengthening aspects of Ankersmit’s ideas and renews his critique of the radical constructivism of Oakeshott.
Erratum: Chelséa B. Johnson, Evan Quah, S. H., Shahrul Anuar, M. A. Muin, Perry L. Wood, Jr., Jesse L. Grismer, Lee F. Greer, Chan Kin Onn, Norhayati Ahmad, Aaron M. Bauer & L. Lee Grismer (2012) Phylogeography, geographic variation, and taxonomy of the Bent-toed Gecko Cyrtodactylus quadrivirgatus Taylor, 1962 from Peninsular Malaysia with the description of a new swamp dwelling species. Zootaxa, 3406, 39–58.
Authors: JOHNSON CHELSEÁ B. , QUAH EVAN , H. S. , ANUAR SHAHRUL , MUIN M. A. , WOOD PERRY L. , GRISMER JESSE JR. L. , GREER LEE F. , ONN CHAN KIN , AHMAD NORHAYATI , BAUER AARON M. , GRISMER L. LEE
Published: March 2013

(Erratum)
Revision of the Indian Microplitis Foerster (Hymenoptera: Braconidae: Microgastrinae), with description of one new species
Authors: GUPTA ANKITA
Published: March 2013

The Indian fauna of the genus Microplitis Foerster, 1862 is revised. An illustrated key to eight species including the description of one new species, M. murkyi sp. nov., is provided. Six previously described species, namely: M. ajmerensis Rao & Kurian, M. demolitor Wilkinson, M. indicus Marsh, M. manilae Ashmead, M. prodeniae Rao & Kurian, and M. spodopterae Rao & Kurian are elaborated with taxonomical variations and extended distribution. Two species, M. bageshri Sathe, Inamdar & Dawale and M. dipika (Bhatnagar) are considered incertae sedis. A new combination is suggested for Snellenius maculipennis (Szepligeti) which is placed into synonymy with Microplitis. Information on taxonomic history of the genus, diagnostic characters of all the included species, distribution and host relationships are provided.
Orchidophaga gastrodiacola Kato, 2006, is Chyliza vittata Meigen, 1826 (Diptera: Psilidae): discussion on its taxonomy and biology
Authors: SUEYOSHI MASAHIRO
Published: March 2013

Morphological features of a Japanese fly that developes in orchids, Orchidophaga gastrodiacola Kato, 2006, assigned to the family Scathophagidae, are reviewed and this species is proposed as a junior synonym of Chyliza vittata Meigen, 1826, of the family Psilidae. Morphological features of specimens from Japan correspond well with those from European. Japanese specimens of this transpalaearctic species utilize buds and stems of the achlorophyllous mycoheterotrophic Gastrodia elata Blume. This association is an exceptional habitat in comparisons to other congeners and European specimens of the same species.
Slippery Thermals and the Cumulus Entrainment Paradox*
Authors: Sherwood Steven C. , Hernández-Deckers Daniel , Colin Maxime , Robinson Francis
Published: March 2013

In numerical simulations of growing congestus clouds, the maximum upward velocities w typically occur in compact toroidal vortices or thermals. These maxima were tracked, and the momentum budget was analyzed within spherical regions centered on them with objectively determined radii approximately enclosing the vortex ring or pair. Such regions are proposed as an advantageous prototype for rising air parcels due to their prolonged identity as evident in laboratory flows. Buoyancy and other forces are generally less than 0.02 m s−2 (0.7 K). In particular, resolved mixing between thermals and their environment fails to produce the drag normally anticipated, often producing even a slight upward force, indicating that parcel models should allow for significantly different dilution rates for momentum than for material properties. A conceptual model is proposed to explain this as a result of the thermals' internal circulation and detrainment characteristics.

The implications of momentum dilution for cumulus development are explored using a simple model of a heterogeneous entraining parcel. Without friction, parcels reach the upper troposphere even at a high entrainment rate [~(2 km)−1] if the environment is sufficiently humid, whereas with standard momentum dilution, a much lower entrainment rate is required. Peak condensed water amounts and sensitivities of cloud amount and height to ambient humidity are significantly more realistic in the high-entrainment case. This suggests that revised treatments of friction and momentum could help address the “entrainment paradox” whereby entrainment rates implied by detailed cloud studies are higher than those typically preferred for parcel-based calculations.
Evaluation of the Surface Climatology over the Conterminous United States in the North American Regional Climate Change Assessment Program Hindcast Experiment Using a Regional Climate Model Evaluation System
Authors: Kim Jinwon , Waliser Duane E. , Mattmann Chris A. , Mearns Linda O. , Goodale Cameron E. , Hart Andrew F. , Crichton Dan J. , McGinnis Seth , Lee Huikyo , Loikith Paul C. , Boustani Maziyar
Published: March 2013

Surface air temperature, precipitation, and insolation over the conterminous United States region from the North American Regional Climate Change Assessment Program (NARCCAP) regional climate model (RCM) hindcast study are evaluated using the Jet Propulsion Laboratory (JPL) Regional Climate Model Evaluation System (RCMES). All RCMs reasonably simulate the observed climatology of these variables. RCM skill varies more widely for the magnitude of spatial variability than the pattern. The multimodel ensemble is among the best performers for all these variables. Systematic biases occur across these RCMs for the annual means, with warm biases over the Great Plains (GP) and cold biases in the Atlantic and the Gulf of Mexico (GM) coastal regions. Wet biases in the Pacific Northwest and dry biases in the GM/southern Great Plains also occur in most RCMs. All RCMs suffer problems in simulating summer rainfall in the Arizona–New Mexico region. RCMs generally overestimate surface insolation, especially in the eastern United States. Negative correlation between the biases in insolation and precipitation suggest that these two fields are related, likely via clouds. Systematic variations in biases for regions, seasons, variables, and metrics suggest that the bias correction in applying climate model data to assess the climate impact on various sectors must be performed accordingly. Precipitation evaluation with multiple observations reveals that observational data can be an important source of uncertainties in model evaluation; thus, cross examination of observational data is important for model evaluation.
A Comparison between Gravity Wave Momentum Fluxes in Observations and Climate Models
Authors: Geller Marvin A. , Alexander M. Joan , Love Peter T. , Bacmeister Julio , Ern Manfred , Hertzog Albert , Manzini Elisa , Preusse Peter , Sato Kaoru , Scaife Adam A. , Zhou Tiehan
Published: March 2013

For the first time, a formal comparison is made between gravity wave momentum fluxes in models and those derived from observations. Although gravity waves occur over a wide range of spatial and temporal scales, the focus of this paper is on scales that are being parameterized in present climate models, sub-1000-km scales. Only observational methods that permit derivation of gravity wave momentum fluxes over large geographical areas are discussed, and these are from satellite temperature measurements, constant-density long-duration balloons, and high-vertical-resolution radiosonde data. The models discussed include two high-resolution models in which gravity waves are explicitly modeled, Kanto and the Community Atmosphere Model, version 5 (CAM5), and three climate models containing gravity wave parameterizations, MAECHAM5, Hadley Centre Global Environmental Model 3 (HadGEM3), and the Goddard Institute for Space Studies (GISS) model. Measurements generally show similar flux magnitudes as in models, except that the fluxes derived from satellite measurements fall off more rapidly with height. This is likely due to limitations on the observable range of wavelengths, although other factors may contribute. When one accounts for this more rapid fall off, the geographical distribution of the fluxes from observations and models compare reasonably well, except for certain features that depend on the specification of the nonorographic gravity wave source functions in the climate models. For instance, both the observed fluxes and those in the high-resolution models are very small at summer high latitudes, but this is not the case for some of the climate models. This comparison between gravity wave fluxes from climate models, high-resolution models, and fluxes derived from observations indicates that such efforts offer a promising path toward improving specifications of gravity wave sources in climate models.
Strategic Fit to Political Factors and Subsequent Performance
Authors: Lux Sean
Published: March 2013

Several scholars have asserted strategic fit to nonmarket factors is positively related to economic performance. Political strategic fit has traditionally been conceptualized as an incremental decision: firms engage in political activities to the extent nonmarket factors suggest firm political actions will improve economic performance. However, the decision to engage in political activity is more of a dichotomous decision (political activity versus free riding). Both incremental and dichotomous political strategic fit are empirically evaluated in the U.S. coal industry from 1986 to 2000. Empirical evidence suggests that political strategic fit should be modeled as a dichotomous decision and that engaging in political activity is positively related to economic performance. Under investing in political activity or pursuing a free riding strategy was negatively related to economic performance.