bluuebunny/crossref_metadata_2025_split huggingface dataset:
Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d‐transposition of the great arteries
Authors: Osoegawa Kazutoyo , Schultz Kathleen , Yun Kenneth , Mohammed Nebil , Shaw Gary M. , Lammer Edward J. 
Published: April 2014

AbstractCongenital heart defects are the most common malformation, and are the foremost causes of mortality in the first year of life. Among congenital heart defects, conotruncal defects represent about 20% and are severe malformations with significant morbidity. Insulin gene enhancer protein 1 (ISL1) has been considered a candidate gene for conotruncal heart defects based on its embryonic expression pattern and heart defects induced in Isl1 knockout mice. Nevertheless no mutation of ISL1 has been reported from any human subject with a heart defect. From a population base of 974,579 births during 1999–2004, we used multiplex ligation‐dependent probe amplification to screen for microdeletions/duplications of ISL1 among 389 infants with tetralogy of Fallot or d‐transposition of the great arteries (d‐TGA). We also sequenced all exons of ISL1. We identified a novel 20‐kb microdeletion encompassing the entire coding region of ISL1, but not including either flanking gene, from an infant with d‐TGA. We confirmed that the deletion was caused by nonhomologous end joining mechanism. Sequencing of exons of ISL1 did not reveal any subject with a novel nonsynonymous mutation. This is the first report of an ISL1 mutation of a child with a congenital heart defect.
Analysis of 2‒D bimodular materials and wrinkled membranes based on the parametric variational principle and co‒rotational approach
Authors: Zhang L. , Gao Q. , Zhang H. W. 
Published: April 2014

SUMMARYIn the numerical analysis of 2‒D bimodular materials, strain discontinuity is problematic, and the traditional iterative algorithm is frequently unstable. This paper develops a stable algorithm for the large‒displacement and small‒strain analyses of 2‒D bimodular materials and structures. Geometrically nonlinear formulations are based on the co‒rotational approach. Using the parametric variational principle (PVP), a unified constitutive equation is created to resolve the problem induced by strain discontinuity in the local coordinate system. Because the traditional stress iteration is not required, the local linear stiffness matrix does not need to be updated when computing the global stiffness matrix and the nodal internal force vector. The nonlinear problem is ultimately transformed into a complementarity problem that is simply solved by combing the Newton–Raphson scheme and the mature quadratic programming algorithm. Numerical examples demonstrate that the PVP algorithm presents better convergence behavior than the traditional iterative algorithm. By incorporating the concept of material modification, the new algorithm is also be successfully extended to the wrinkling analysis of thin membranes. Copyright © 2014 John Wiley & Sons, Ltd.
Collaborative Measurement Development as a Tool in CBPR: Measurement Development and Adaptation within the Cultures of Communities
Authors: Gonzalez John , Trickett Edison J. 
Published: April 2014

AbstractThis paper describes the processes we engaged into develop a measurement protocol used to assess the outcomes in a community based suicide and alcohol abuse prevention project with two Alaska Native communities.
While the literature on community‐based participatory research (CBPR) is substantial regarding the importance of collaborations, few studies have reported on this collaboration in the process of developing measures to assess CBPR projects. We first tell a story of the processes around the standard issues of doing cross‐cultural work on measurement development related to areas of equivalence. A second story is provided that highlights how community differences within the same cultural group can affect both the process and content of culturally relevant measurement selection, adaptation, and development.
Trajectories of prosocial behavior from adolescence to early adulthood: Associations with personality change☆
Authors: Luengo Kanacri Bernadette P. , Pastorelli Concetta , Eisenberg Nancy , Zuffianò Antonio , Castellani Valeria , Caprara Gian Vittorio 
Published: April 2014

ABSTRACTThe goal of this study was to identify heterogenic longitudinal patterns of change in prosocial behavior from adolescence to early adulthood and their association with change in Big Five Factor (BFF) personality traits from adolescence until early adulthood. Participants were 573 Italian adolescents aged approximately 13 at the first assessment and 21 at the last assessment. Using growth mixture modeling, low increasing (LI; 18%), medium quadratic (MQ; 26%), and high quadratic (HQ; 54%) trajectories of prosocial behavior were distinguished. Generally, the LI trajectory group predicted an increase in Conscientiousness over time, whereas the HQ trajectory group predicted greater change in Agreeableness and Openness. In addition, positive changes in Conscientiousness, Agreeableness, and Openness between ages 13 and 21 predicted a higher probability of belonging to the HQ prosocial group. Findings support a malleable perspective on personality and identify longterm positive pathways for youths' prosocial development.
Slim by Design or by willpower? Replies to Herman and Polivy and to Roberto, Pomeranz, and Fisher
Authors: Wansink Brian , Chandon Pierre 
Published: April 2014

AbstractIn their commentary of our “Slim by Design” article, Herman and Polivy offer a simple and powerful model of food intake which focuses on the mediating role of hunger, taste, and appropriateness. In their commentary, Roberto, Pomeranz, and Fisher review both new and classic interventions aimed at reducing obesity and raise the issue of whether they can be scalable and sustainable without regulatory oversight. In this rejoinder, we examine the few differences between the Chandon & Wansink and the Herman & Polivy frameworks to highlight critical areas for future research, including focusing on overeating vs. intake, refining the role of normative drivers, and studying lay theories of overeating. We then resolve the questions raised by Roberto, Pomeranz, and Fisher by providing concrete examples of low‐cost design changes that are scalable and sustainable because they benefit both healthy eating and the overall sales and profitability of school and workplace cafeterias.
Association between C‐reactive protein, corrected QT interval and presence of QT prolongation in hypertensive patients
Authors: Chang Kai‐Ting , Shu Hsu‐Shien , Chu Chun‐Yuan , Lee Wen‐Hsien , Hsu Po‐Chao , Su Ho‐Ming , Lin Tsung‐Hsien , Voon Wen‐Chol , Lai Wen‐Ter , Sheu Sheng‐Hsiung 
Published: April 2014

AbstractC‐reactive protein (CRP) and corrected QT (QTc) interval are predictors of cardiovascular disease. Whether CRP is associated with QTc interval and QT prolongation is unknown in hypertensive patients. We recruited hypertensive patients from a cardiovascular clinic in a tertiary medical center in Taiwan. All received standard 12‐lead electrocardiogram examination. QT prolongation was defined as QTc interval ≥440 ms in men or ≥450 ms in women. High‐sensitive CRP kits were used for the measurement of the CRP levels. A total of 466 consecutive patients were finally enrolled. Mean age was 60.6 ± 12.0 years. CRP level was correlated with QTc interval (p < 0.001) and presence of QT prolongation (p = 0.014). Multivariate regression analysis showed that CRP level (p = 0.001), age (p = 0.004), sex (p < 0.001), height (p = 0.001), low‐density lipoprotein (p = 0.041), and QRS interval (p < 0.001) were associated with QTc interval. Furthermore, CRP level [odds ratio (OR) = 1.203, 95% confidence interval (CI) = 1.027–1.410, p = 0.022], age (OR = 1.040, 95% CI = 1.010–1.071, p = 0.009), waist (OR = 1.033, 95% CI = 1.000–1.066, p = 0.047), triglyceride (OR = 0.993, 95% CI = 0.987–0.999, p = 0.021) and QRS interval (OR = 1.046, 95% CI = 1.028–1.065, p < 0.001) independently predicted the presence of QT prolongation. Because CRP is an independent predictor of QTc interval and presence of QT prolongation, it could be considered in the risk assessment for hypertensive patients.
The preliminary experiences of translocation renal cell carcinoma and literature review
Authors: Su Hsin‐Hao , Sung Ming‐Tse , Chiang Po‐Hui , Cheng Yunan‐Tso , Chen Yen‐Ta 
Published: April 2014

AbstractXp11.2 translocation renal cell carcinoma (RCC) is rare and predominantly found in children and young adults. Because of the property of overexpressed transcription factor E3 (TFE3) fusion protein, immunohistochemical (IHC) staining with TFE3 antibody makes an excellent diagnostic tool. This study analyzed preliminary experiences of eight Xp11.2 translocation RCCs in our institution between 2007 and 2012. In four males and four females with a mean age of 28.4 years. Xp11.2 translocation RCCs were diagnosed. TFE3 IHC stain was positive in all tumor specimens. As the initial presentation, four patients suffered from abdominal pain, three cases had gross hematuria, and one case had hemoptysis caused by existing lung metastasis. The tumor was located in the right kidney (75%) with mean diameter of 5.85 ± 2.64 cm. Three cases (38%, 3/8) presented with lymph node metastasis at the time of diagnosis. In five cases (63%, 5/8), the initial diagnosis was Stage III and IV. Treatment included open surgery (one partial nephrectomy and five radical nephrectomies), cryoablation, immunotherapy, and target therapy. The mean follow‐up time was 32 months. One patient died after 23.4 months of follow‐up. The application of TFE3 IHC stain will improve the diagnostic accuracy for detecting XP11.2 translocation renal cell carcinoma. Surgery or cryoablation both had excellent prognosis in early stages. Although the disease is believed to be indolent, an increasingly aggressive clinical course should be kept in mind, especially for children and young adults.
Zur Bedeutung von sozialer Unterstützung während der Schwangerschaft
Authors: Ulrich Franziska , Petermann Franz 
Published: April 2014

Eine wachsende Zahl an Studien dokumentiert die negativen Auswirkungen von mütterlichen psychosozialen Stressoren (z. B. mütterliche Depression) und gesundheitsrelevanten Verhaltensweisen (z. B. Nikotin- und Alkoholkonsum) während der Schwangerschaft auf den Geburtsausgang. Jedoch werden mütterliche Ressourcen in diesem Kontext noch unzureichend berücksichtigt. Das Ziel ist es daher, die Bedeutung sozialer Unterstützung als frühe Ressource im Schwangerschaftsverlauf und zum Zeitpunkt der Geburt im Hinblick auf das Gesundheitsverhalten der Schwangeren und im Hinblick auf Geburtsmaße zu untersuchen. Die Datenbanken Web of Science und PubMed wurden entsprechend nach deutsch- und englischsprachigen Beiträgen für den Zeitraum 2003 bis 2013 durchsucht. 23 Studien erfüllten die Auswahlkriterien. Die Ergebnisse verdeutlichen, dass die Befundlage sehr inkonsistent ist, was teilweise auf die unterschiedlichen Definitionen sozialer Unterstützung und die Nutzung verschiedener Erhebungsinstrumente zurückzuführen ist. Des Weiteren fehlt es an Studien zur Bedeutung sozialer Unterstützung im Kontext mütterlicher psychosozialer Stressoren und Geburtsmaßen. Es bedarf weiterer Studien an Risiko- und Allgemeinpopulationen, die auf der Basis eines fundierten Rahmenkonzeptes mögliche Effekte der sozialen Unterstützung differenziert analysieren können.
Cortical oscillations arise from contextual interactions that regulate sparse coding
Authors: Jadi Monika P. , Sejnowski Terrence J. 
Published: April 2014

Significance
The nature and functions of oscillations in cerebral cortex are complex and controversial, and the mechanisms that regulate them are poorly understood. We propose a regulatory mechanism that links the dynamical state of the cortex to interactions between sensory and behavioral context during information processing. We explain how a prominent set of otherwise paradoxical empirical results can be understood with a single free parameter, the ratio of monosynaptic to disynaptic input to a subpopulation of inhibitory cells. In particular, we show that the power and frequency of gamma-range oscillations can be used to monitor the state of a cortical network. Our proposed model makes specific predictions that have broad implications for the basic understanding of information coding in the cortex.
An 8-year-old Biological Female Who Identifies Herself as a Boy: Perspectives in Primary Care and from a Parent
Authors: Kern Leah , Edmonds Penn , Perrin Ellen C. , Stein Martin T. 
Published: April 2014

CASE: An 8-year 8-month-old biological female who self-identifies as a boy, Ricardo is brought by his mother for a well-child check to his new pediatrician. Ricardo and his mother report that he is doing well, but have concerns about the upcoming changes associated with puberty. Ricardo states that he is particularly afraid of developing breasts. His mother asks about obtaining a referral to a specialist who can provide “hormone therapy” to delay puberty.
Ricardo was adopted from Costa Rica at the age of 2 as a healthy girl named “Angela.” From the age of 3, he displayed clear preference for male gender–associated clothes, toys, and games. At age 5, his mother sought care for hyperactivity and sleep problems. He was diagnosed with attention-deficit hyperactivity disorder and sleep onset disorder at age 6, and his symptoms have been well controlled with Adderall and melatonin.
Ricardo lives with his parents who are accepting and supportive of his gender preference. He sees a therapist who has experience with gender dysphoria. For the past years, he has attended school as male, with the confidential support of administrators at his elementary school.
MAPK signaling: A key element in plant defense response to insects
Authors: Hettenhausen Christian , Schuman Meredith C. , Wu Jianqiang 
Published: April 2014

AbstractInsects have long been the most abundant herbivores, and plants have evolved sophisticated mechanisms to defend against their attack. In particular, plants can perceive specific patterns of tissue damage associated with insect herbivory. Some plant species can perceive certain elicitors in insect oral secretions (OS) that enter wounds during feeding, and rapidly activate a series of intertwined signaling pathways to orchestrate the biosynthesis of various defensive metabolites. Mitogen‐activated protein kinases (MAPKs), common to all eukaryotes, are involved in the orchestration of many cellular processes, including development and stress responses. In plants, at least two MAPKs, salicylic acid‐induced protein kinase (SIPK) and wound‐induced protein kinase (WIPK), are rapidly activated by wounding or insect OS; importantly, genetic studies using transgenic or mutant plants impaired in MAPK signaling indicated that MAPKs play critical roles in regulating the herbivory‐induced dynamics of phytohormones, such as jasmonic acid, ethylene and salicylic acid, and MAPKs are also required for transcriptional activation of herbivore defense‐related genes and accumulation of defensive metabolites. In this review, we summarize recent developments in understanding the functions of MAPKs in plant resistance to insect herbivores.
Genetic structure of the whitefly Bemisia tabaci populations in Colombia following a recent invasion
Authors: Díaz Fernando , Endersby Nancy M. , Hoffmann Ary A. 
Published: April 2014

AbstractThe whitefly Bemisia tabaci (Gennadius) is one of the most important pests causing economic losses in a variety of cropping systems around the world. This species was recently found in a coastal region of Colombia and has now spread inland. To investigate this invasive process, the genetic structure of B. tabaci was examined in 8 sampling locations from 2 infested regions (coastal, inland) using 9 microsatellite markers and the mitochondrial COI gene. The mitochondrial analysis indicated that only the invasive species of the B. tabaci complex Middle East–Asia Minor 1 (MEAM 1 known previously as biotype B) was present. The microsatellite data pointed to genetic differences among the regions and no isolation by distance within regions. The coastal region in the Caribbean appears to have been the initial point of invasion, while the inland region in the Southwest showed genetic variation among populations most likely reflecting founder events and ongoing changes associated with climatic and topographical heterogeneity. These findings have implications for tracking and managing B. tabaci.
Accuracy of magnetic resonance imaging for preoperative staging of rectal cancer
Authors: Keane Celia , Young Mike 
Published: April 2014

AbstractBackgroundNew Zealand has one of the highest rates of rectal adenocarcinoma in the world. Magnetic resonance imaging (MRI) is widely used for preoperative staging of rectal cancer. The accuracy of MRI varies, which may affect treatment decisions. The accuracy of MRI for pretreatment staging of rectal adenocarcinoma in a provincial centre in New Zealand has not been investigated. We aimed to assess the accuracy of MRI for pretreatment staging of early rectal adenocarcinoma in patients managed via the MidCentral Regional Cancer Service Multidisciplinary Team.MethodsA retrospective review of the MidCentral Regional Cancer Service Multidisciplinary Team database identified 54 patients with rectal adenocarcinoma who proceeded to surgery without preoperative long course chemo‐radiotherapy. The pretreatment MRI stage was compared with the histological stage for each of these patients.ResultsMRI correctly staged the tumour invasion (T stage) in 24 patients (44% of cases), and lymph node stage in 38 patients (70% of cases). There was moderate agreement between MRI and histological staging for tumour invasion (κ = 0.46) and for lymph node involvement (κ = 0.41). Twenty‐one cases were under‐staged and five cases were over‐staged with regards to invasion of the muscularis propria. Fourteen cases were under‐staged, and two cases over‐staged in regards to lymph node involvement.ConclusionAlthough MRI provides important pretreatment staging information for rectal adenocarcinoma, in our experience MRI is not as accurate as in other reports. Multidisciplinary teams managing patients with rectal adenocarcinoma should be aware of the limitations of MRI for pretreatment staging.
Urological chronic pelvic pain syndrome symptom flares: characterisation of the full range of flares at two sites in the Multidisciplinary Approach to the Study of Chronic Pelvic Pain (MAPP) Research Network
Authors: Sutcliffe Siobhan , Colditz Graham A. , Goodman Melody S. , Pakpahan Ratna , Vetter Joel , Ness Timothy J. , Andriole Gerald L. , Lai H. Henry 
Published: April 2014

ObjectivesTo describe the full range of symptom exacerbations defined by people with interstitial cystitis/bladder pain syndrome and chronic prostatitis/chronic pelvic pain syndrome as ‘flares’, and to investigate their associated healthcare utilization and bother at two sites of the Multidisciplinary Approach to the Study of Chronic Pelvic Pain (MAPP) Epidemiology and Phenotyping study.Subjects and MethodsParticipants completed a flare survey that asked them: 1) whether they had ever had flares (‘symptoms that are much worse than usual’) that lasted <1 h, >1 h and <1 day, and >1 day; and 2) for each duration of flare, to report: their average length and frequency; their typical levels of urological and pelvic pain symptoms; and their levels of healthcare utilization and bother. We compared participants' responses to their non‐flare MAPP values and by duration of flare using generalized linear mixed models.ResultsOf 85 participants, 76 (89.4%) completed the flare survey, 72 (94.7%) of whom reported experiencing flares. Flares varied widely in terms of their duration (seconds to months), frequency (several times per day to once per year or less), and intensity and type of symptoms (e.g. pelvic pain vs urological symptoms). Flares of all durations were associated with greater pelvic pain, urological symptoms, disruption to participants' activities and bother, with increasing severity of each of these factors as the duration of flares increased. Days‐long flares were also associated with greater healthcare utilization. In addition to duration, symptoms (pelvic pain, in particular) were also significant determinants of flare‐related bother.ConclusionsOur findings suggest that flares are common and associated with greater symptoms, healthcare utilization, disruption and bother. Our findings also show the characteristics of flares most bothersome to patients (i.e. increased pelvic pain and duration), and thus of greatest importance to consider in future research on flare prevention and treatment.
Antigen-specific over-expression of human cartilage glycoprotein 39 on CD4+CD25+ forkhead box protein 3+ regulatory T cells in the generation of glucose-6-phosphate isomerase-induced arthritis
Authors: Tanaka Y , Matsumoto I , Inoue A , Umeda N , Takai C , Sumida T 
Published: April 2014

Summary
Human cartilage gp-39 (HC gp-39) is a well-known autoantigen in rheumatoid arthritis (RA). However, the exact localization, fluctuation and function of HC gp-39 in RA are unknown. Therefore, using a glucose-6-phosphate isomerase (GPI)-induced model of arthritis, we investigated these aspects of HC gp-39 in arthritis. The rise in serum HC gp-39 levels was detected on the early phase of GPI-induced arthritis (day 7) and the HC gp-39 mRNA was increased significantly on splenic CD4+T cells on day7, but not on CD11b+cells. Moreover, to identify the characterization of HC gp-39+CD4+T cells, we assessed the analysis of T helper (Th) subsets. As a result, HC gp-39 was expressed dominantly in CD4+CD25+ forkhead box protein 3 (FoxP3)+ refulatory T cells (Treg), but not in Th1, Th2 or Th17 cells. Furthermore, to investigate the effect of HC gp-39 to CD4+T cells, T cell proliferation assay and cytokine production from CD4+T cells using recombinant HC gp-39 was assessed. We found that GPI-specific T cell proliferation and interferon (IFN)-γ or interleukin (IL)-17 production were clearly suppressed by addition of recombinant HC gp-39. Antigen-specific over-expression of HC gp-39 in splenic CD4+CD25+FoxP3+Treg cells occurs in the induction phase of GPI-induced arthritis, and addition of recombinant HC gp-39 suppresses antigen-specific T-cell proliferation and cytokine production, suggesting that HC gp-39 in CD4+T cells might play a regulatory role in arthritis.
The frequency of multi‐queen colonies increases with altitude in a Nearctic ant
Authors: HEINZE JÜRGEN , RUEPPELL OLAV 
Published: April 2014

1. Most ants in boreal and alpine habitats are facultatively polygynous, i.e. their colonies may contain one or several queens. It was investigated how the proportion of polygynous colonies varies along an elevation gradient from 60 to 2700 m in the Nearctic ant Temnothorax rugatulus (Emery).2. Across all populations, the proportion of polygynous colonies was positively correlated with altitude. The correlation was considerably stronger when only populations in the narrow area of the Chiricahua Mts, Arizona, were compared.3. The dominance of polygynous colonies at high altitudes may be associated with selection against solitary colony founding by young queens. In areas with short summers and long winters, hibernation mortality of solitarily founding queens may select for alternative reproductive tactics, such as polygyny and colony founding by budding.4. Colony founding tactics need to be taken into account to more fully understand altitudinal and latitudinal patterns of ant faunas.