bluuebunny/crossref_metadata_2025_split huggingface dataset:
Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene
Authors: Moalem Sharon , Keating Sarah , Shannon Patrick , Thompson Megan , Millar Kathryn , Nykamp Keith , Forster Adam , Noor Abdul , Chitayat David 
Published: May 2013

ABSTRACTNephronophthisis associated ciliopathies (NPHP‐AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior–Loken syndrome. We report on a male fetus with prenatal ultrasound findings at 24 weeks of gestation of anhydramnios, large and echogenic kidneys and situs inversus totalis. Histopathology revealed nephronophthisis and tracheal mucosa electron microscopy revealed ciliary dysgenesis. DNA analysis of the NPHP genes showed a previously unreported homozygous mutation, p.Arg603* (c.1078+1G>A), in the INVS/NPHP2 gene. This mutation is thought to abolish the splice donor site for exon 8, which likely disrupts the normal splicing of the INVS/NPHP2 gene. © 2013 Wiley Periodicals, Inc.
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes
Authors: Alby Caroline , Bessieres Bettina , Bieth Eric , Attie‐Bitach Tania , Fermont Laurent , Citony Isabelle , Razavi Ferechté , Vekemans Michel , Escande Fabienne , Manouvrier Sylvie , Malan Valérie , Amiel Jeanne 
Published: May 2013

AbstractWe report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease‐causing in Holt‐Oram and ulnar‐mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array‐CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability. © 2013 Wiley Periodicals, Inc.
The timing of maternal separation affects morris water maze performance and long‐term potentiation in male rats
Authors: Cao Xiujing , Huang Shenghai , Cao Jiejie , Chen Tingting , Zhu Ping , Zhu Rui , Su Puyu , Ruan Diyun 
Published: May 2013

ABSTRACTThe increasing evidences showed that adverse early life events have profound long lasting consequences in adult rats including neural, behavioral, and cognitive effects. Early maternal separation was one of the models of adverse early life stress, but which period acts critically was unknown until now. The purpose of this paper was to explore the effects of maternal separation in different periods, that is, postnatal Day 2–9 and postnatal Day 14–21, on spatial learning and memory and long‐term potentiation (LTP) in hippocampus of adolescent rats. Rat pups were assigned to three groups: early maternal separation from postnatal Day 2–9 (EMS2–9), separation from postnatal Day 14–21 (EMS14–21), and control (Con)—rats stayed with their mother all the time before weaning. Morris water maze test (MWM) and electrophysiological test were performed at 40–50 days of age. The results indicated that EMS14–21 impaired spatial learning and memory ability. For the excitatory postsynaptic potential long‐term potentiation (EPSP LTP), both the two maternal separation groups showed decreased values compared to control group. In terms of population spike long‐term potentiation (PS LTP), both the two maternal separation groups also showed lower values compared with control group, but only EMS14–21 group had significant difference compared with control group. In conclusion, our results revealed that EMS14–21 showed worst in both escape latency in Morris Water Maze test and LTP compared to control group and EMS2–9 group. © 2013 Wiley Periodicals, Inc. Dev Psychobiol 56: 1102–1109, 2014.
Early development of hand preference and language lateralization: Are they linked, and if so, how?
Authors: Fagard Jacqueline 
Published: May 2013

ABSTRACTIt is often taken for granted that, in a large majority of typical persons, hand preference and hemispheric specialization for language are interrelated. In this article, I argue that there is currently little serious evidence to support this view. I contend that the best way to investigate the true relationship between hand preference and language lateralization would be to look at their codevelopment. Since both hand preference and language asymmetries are expressed very early, even before birth, a systematic comparison of the very early development of both behavioral traits is needed to understand this relationship. At present, such data are clearly lacking. I discuss existing data on the development of hand preference and language asymmetry, and on the relations between the two. I conclude that this evidence favors the view that the two asymmetries develop relatively independently. © 2013 Wiley Periodicals, Inc. Dev Psychobiol 55: 596–607, 2013.
Measured physical activity in anorexia nervosa: Features and treatment outcome
Authors: El Ghoch Marwan , Calugi Simona , Pellegrini Massimo , Milanese Chiara , Busacchi Marcello , Battistini Nino Carlo , Bernabè Jasmine , Dalle Grave Riccardo 
Published: May 2013

ABSTRACTObjectiveTo assess the role of measured physical activity (PA) in anorexia nervosa treatment outcome, and to compare the PA of patients with anorexia nervosa with age‐matched controls.MethodPA was assessed by means of Sense Wear Armband before and after a cognitive‐behavioral inpatient treatment in 53 consecutive females with anorexia nervosa, and in 53 healthy age‐matched controls.ResultsAt baseline, patients with anorexia nervosa exhibited a higher duration of moderate–vigorous PA (MVPA≥3 Metabolic Equivalent Tasks (METs)) than controls (t = 2.91; p = .004). Dropouts had higher duration (sec) and expenditure (kcal·day−1) of MVPA than completers. At the end of treatment, completers had a higher number of daily steps, MVPA duration, and expenditure than controls. However, PA was not correlated to eating disorder psychopathology either before or after treatment.DiscussionPA is higher in patients with anorexia nervosa than age‐matched controls both before and after treatment, and is associated with treatment dropout. © 2013 Wiley Periodicals, Inc. (Int J Eat Disord 2013; 46:709–712)
NetGirls: The Internet, Facebook, and body image concern in adolescent girls
Authors: Tiggemann Marika , Slater Amy 
Published: May 2013

ABSTRACTObjectiveThe primary aim of the study was to examine the relationship between Internet exposure and body image concern in adolescent girls, with a particular focus on the social networking site of Facebook.MethodA sample of 1,087 girls in the first two years (Years 8 and 9) of high school (aged 13–15 years) completed questionnaire measures of Internet consumption and body image concerns.ResultsThe overwhelming majority of girls (95.9%) had access to the Internet in their home. Time spent on the Internet was significantly related to internalization of the thin ideal, body surveillance, and drive for thinness. Further, 75% of the girls had a Facebook profile, and spent an average of 1.5 hours there daily. Facebook users scored significantly more highly on all body image concern measures than non‐users.DiscussionIt was concluded that the Internet represents a potent socio‐cultural medium of relevance to the body image of adolescent girls. © 2013 Wiley Periodicals, Inc. (Int J Eat Disord 2013; 46:630–633)
Evaluation of a web‐based skills intervention for carers of people with anorexia nervosa: A randomized controlled trial
Authors: Hoyle Danielle , Slater Judith , Williams Chris , Schmidt Ulrike , Wade Tracey D. 
Published: May 2013

ABSTRACTObjectiveTo investigate the feasibility and usefulness of an online information and skills development intervention for carers of individuals with anorexia nervosa (AN) and individuals with AN.MethodThirty‐seven carers and seventeen individuals with AN were recruited; carers completed the intervention Overcoming Anorexia Online (OAO), with random allocation to receiving additional clinician guidance (OAO‐G) or no guidance (OAO‐NoG). Level of expressed emotion, distress, depressive symptoms, experience of caregiving, and impact of eating disorder symptoms were assessed in carers and perceptions of changes in their carers' expressed emotion were assessed in individuals with AN. Participants completed questionnaires at pre‐intervention, post‐intervention and 3‐month follow‐up.ResultsSignificant reductions were found for carer intrusiveness, negative experiences of caregiving, and the impact of starvation and guilt. Within group effect sizes suggested mixed findings with respect to whether greater benefits were conferred for carers receiving clinician guidance. Decreases in perceived intrusiveness of the carer by the individual with AN were associated with a large effect size.DiscussionResults demonstrate the feasibility and usefulness of an online intervention for carers. Further examination of the efficacy of the intervention for both carers and individuals with AN is warranted. © 2013 Wiley Periodicals, Inc. (Int J Eat Disord 2013; 46:634–638)
Pleural effusion leading to right atrial collapse
Authors: Khouzam Rami N. , Yusuf Jawwad 
Published: May 2013

ABSTRACTRapid accumulation of pericardial fluid can lead to tamponade, resulting in cardiac chambers' collapse, which can lead to hemodynamic and clinical instability, potentially needing emergent pericardiocentesis. Pleural effusion should also be considered as a potential, if rare, cause of cardiac chambers' collapse and possibly cardiac tamponade. This phenomenon has clinical implications because hemodynamically unstable patients with moderate to large pleural effusion may actually need thoracentesis instead of massive volume resuscitation, inotropic agents, or pericardiocentesis. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound 42: 189–191, 2014
Isogeometric finite element analysis of poroelasticity
Authors: Irzal Faisal , Remmers Joris J. C. , Verhoosel Clemens V. , de Borst René 
Published: May 2013

SUMMARYWe present an alternative numerical approach for predicting the behaviour of a deformable fluid‐saturated porous medium. The conventional finite element technology is replaced by isogeometric analysis that uses non‐uniform rational B‐splines. The ability of these functions to provide higher‐order continuity and to exactly represent complex geometries makes isogeometric analysis a suitable candidate for accurately modeling a poroelastic medium. After some preliminaries regarding the formulation of isogeometric finite elements using Bézier extraction and a concise outline of poroelasticity theory, we describe how isogeometric finite elements can be used for a mixed formulation that results in case of a porous medium. The manuscript concludes by one‐dimensional and two‐dimensional examples, which demonstrate the superiority of the results of isogeometric finite element analysis in terms of the smoothness of the results compared with conventional finite element analysis and suggest that the requirement on the minimum time step for consolidation problems can be mitigated using interpolation functions that possess a higher‐order continuity. Copyright © 2013 John Wiley & Sons, Ltd.
Weak Galerkin finite element methods for Parabolic equations
Authors: Li Qiaoluan H. , Wang Junping 
Published: May 2013

AbstractA newly developed weak Galerkin method is proposed to solve parabolic equations. This method allows the usage of totally discontinuous functions in approximation space and preserves the energy conservation law. Both continuous and discontinuous time weak Galerkin finite element schemes are developed and analyzed. Optimal‐order error estimates in both H1 and L2 norms are established. Numerical tests are performed and reported. © 2013 Wiley Periodicals, Inc. Numer Methods Partial Differential Eq, 2013
Convergence analysis of an hp finite element method for singularly perturbed transmission problems in smooth domains
Authors: Nicaise Serge , Xenophontos Christos 
Published: May 2013

AbstractWe consider a two‐dimensional singularly perturbed transmission problem with two different diffusion coefficients, in a domain with smooth (analytic) boundary. The solution will contain boundary layers only in the part of the domain where the diffusion coefficient is high and interface layers along the interface. Utilizing existing and newly derived regularity results for the exact solution, we prove the robustness of an hp finite element method for its approximation. Under the assumption of analytic input data, we show that the method converges at an “exponential” rate, provided the mesh and polynomial degree distribution are chosen appropriately. Numerical results illustrating our theoretical findings are also included. © 2013 Wiley Periodicals, Inc. Numer Methods Partial Differential Eq, 2013
Redefining metabolic syndrome as a fat storage condition based on studies of comparative physiology
Authors: Johnson Richard J. , Stenvinkel Peter , Martin Sandra L. , Jani Alkesh , Sánchez‐Lozada Laura Gabriela , Hill James O. , Lanaspa Miguel A. 
Published: May 2013

AbstractObjective: The metabolic syndrome refers to a constellation of signs including abdominal obesity, elevated serum triglycerides, low HDL‐cholesterol, elevated blood pressure, and insulin resistance. Today approximately one third of the adult population has the metabolic syndrome. While there is little doubt that the signs constituting the metabolic syndrome frequently cluster, much controversy exists over the definition, pathogenesis, or clinical utility.Design and Methods: Here we present evidence from the field of comparative physiology that the metabolic syndrome is similar to the biological process that animals engage to store fat in preparation for periods of food shortage.Results: We propose that the metabolic syndrome be changed to fat storage condition to more clearly align with its etiology. Obesity in humans is likely the consequences of both genetic predisposition (driven in part by thrifty genes) and environment. Recent studies suggest that the loss of the uricase gene may be one factor that predisposes humans to obesity today.Conclusion: Understanding the process animals engage to switch from a lean insulin‐sensitive to an obese insulin‐resistant state may provide novel insights into the cause of obesity and diabetes in humans, and unique opportunities for reversing their pathology.
Combining behavioral weight loss treatment and a commercial program: A randomized clinical trial
Authors: Pinto Angela Marinilli , Fava Joseph L. , Hoffmann Debra A. , Wing Rena R. 
Published: May 2013

AbstractObjective:To test the hypothesis that a novel weight loss approach that combined the fundamental components of professionally delivered behavioral weight loss (BWL) treatment with the existing Weight Watchers (WW) program would produce better weight losses than WW alone no differences were expected between the novel treatment and BWL alone.Design and Methods:Participants were 141 overweight and obese adults (90% women, 67% non‐White, mean age = 49.7 ± 9.2 years, mean body mass index = 36.2 ± 5.5 kg/m2) randomly assigned to 48 weeks of BWL, 48 weeks of WW, or 12 weeks of BWL followed by 36 weeks of WW [combined treatment (CT)]. Assessments were conducted at baseline and weeks 12, 24, and 48, with weight change as the primary outcome.Results:Linear mixed model analysis showed that 24‐week weight losses did not differ significantly between treatment groups; however, weight losses at 48 weeks were greater in the WW group (M = −6.0 kg, standard error (SE) = 0.8) compared with the CT group (M = −3.6 kg, SE = 0.8; P = 0.032), with BWL not significantly different from either (M = −5.4 kg, SE = 0.8). Further, a greater proportion of WW participants lost 10% of baseline weight by 48 weeks compared with BWL or CT (36.7%, 13.0%, and 15.2%, respectively, P < 0.05).Conclusion:This study shows that the WW program can produce clinically meaningful weight losses and provides no evidence that adding brief BWL to the WW program improves outcome.
Possible risk factors for increased suicide following bariatric surgery
Authors: Mitchell James E. , Crosby Ross , de Zwaan Martina , Engel Scott , Roerig James , Steffen Kristine , Gordon Kathryn H. , Karr Trisha , Lavender Jason , Wonderlich Steve 
Published: May 2013

AbstractObjective:There is a growing research literature suggesting that there may be elevated risk of suicide following bariatric surgery. Most of the data reported thus far has been cross‐sectional and observational, and very little is known about the possible specific causal variables involved.Design and Methods:The purpose of this report is to review this literature and to review possible risk factors for increased suicidal risk following bariatric surgery, to delineate future research directions.Results:First a variety of medical, biological, and genetic factors, including the persistence or recurrence of medical comorbidities after bariatric surgery, the disinhibition and impulsivity secondary to changes in the absorption of alcohol, hypoglycemia, as well as pharmacokinetic changes that may affect the absorption of various medications including antidepressant medications are reviewed. Also reviewed are possible mediating factors involving changes in various peptidergic systems such as GLP‐1 and Ghrelin. A number of psychosocial issues that might be involved are discussed, including lack of improvement in quality of life after surgery, continued or recurrent physical mobility restrictions, persistence or recurrence of sexual dysfunction and relationship problems, low self‐esteem, and a history of child maltreatment. Inadequate weight loss or weight regain are also discussed.Conclusions:A number of possible contributing factors have been identified. Possible theoretical models involved and directions for research are suggested.
Effect of dietary composition of weight loss diets on high‐sensitivity c‐reactive protein: The Randomized POUNDS LOST trial
Authors: Nicklas Jacinda M. , Sacks Frank M. , Smith Steven R. , LeBoff Meryl S. , Rood Jennifer C. , Bray George A. , Ridker Paul M 
Published: May 2013

AbstractObjective:Overweight and obesity are associated with increased high‐sensitivity C‐reactive protein (hsCRP) levels. The purpose of this study was to determine if weight loss diets differing in fat, protein, or carbohydrate composition differentially reduce hsCRP.Design and Methods:POUNDS (preventing overweight using novel dietary strategies) LOST was a 2‐year trial of overweight and obese adults randomly allocated to one of four weight loss diets with targeted percentages of energy derived from fat, protein, and carbohydrates (20, 15, 65%; 20, 25, 55%; 40, 15, 45%; 40, 25, 35%, respectively). hsCRP was measured at baseline, 6, and 24 months among 710 participants, and adiposity as measured by dual X‐ray absorptiometry (N = 340) or abdominal computed tomography (N = 126) was correlated with hsCRP change.Results:At 6 months, hsCRP was reduced in all trial participants by −24.7% (Interquartile range (IQR) +7%, −50%), weight by −6.7% (IQR −3%, −11%), and waist circumference by −6.0% (IQR −3%, −10%) (all P < 0.002), with no significant differences according to dietary composition. The percent change in hsCRP at 6 and 24 months correlated modestly with change in weight, waist circumference, fasting insulin, fasting glucose, HOMA, and most lipid levels. Reductions in hsCRP persisted despite ∼ 50% regain of weight by 24 months. The percent change in hsCRP at 24 months significantly correlated with changes in total body fat (r = 0.42), total abdominal adiposity (r = 0.52), subcutaneous abdominal adiposity (r = 0.52), visceral adiposity (r = 0.47), and hepatic tissue density (r = −0.34) (all P < 0.0006).Conclusion:Weight loss decreased hsCRP by similar magnitude, irrespective of dietary composition. Clinicians concerned about inflammation and cardiovascular risk should recommend weight loss diets most likely to succeed for their patients.
Insurer and employer views on pediatric obesity treatment: A qualitative study
Authors: Hampl S.E. , Davis A.M. , Sampilo M.L. , Stephens K.L. , Dean K. 
Published: May 2013

AbstractObjective:The effectiveness of group‐based comprehensive, multidisciplinary (stage 3) pediatric weight management programs is backed by a growing body of literature, yet insurance coverage of these programs is scarce to nonexistent, limiting their reach and long‐term survival. The objective of this study was to better understand the perspectives of insurers and large employers on the issue of group‐based treatment coverage.Design and Methods:The authors performed a qualitative study utilizing structured interviews with these stakeholders, following accepted techniques.Results:Six major themes emerged: cost, program effectiveness, corporate social responsibility, secondary parental (employee) benefits, coverage options and new benefit determination.Conclusion:Future efforts to secure payment for group‐based pediatric weight management programs should address these key themes.
Internet marketing directed at children on food and restaurant websites in two policy environments
Authors: Kent M. Potvin , Dubois L. , Kent E. A. , Wanless A. J. 
Published: May 2013

AbstractObjective:Food and beverage marketing has been associated with childhood obesity yet little research has examined the influence of advertising policy on children's exposure to food/beverage marketing on the Internet. The purpose of this study was to assess the influence of Quebec's Consumer Protection Act and the self‐regulatory Canadian Children's Food and Beverage Advertising Initiative (CAI) on food manufacturer and restaurant websites in Canada.Design and Methods:A content analysis of 147 French and English language food and restaurant websites was undertaken. The presence of child‐directed content was assessed and an analysis of marketing features, games and activities, child protection features, and the promotion of healthy lifestyle messages was then examined on those sites with child‐directed content.Results:There were statistically no fewer French language websites (n = 22) with child‐directed content compared to English language websites (n = 27). There were no statistically significant differences in the number of the various marketing features, or in the average number of marketing features between the English and French websites. There were no fewer CAI websites (n = 14) with child‐directed content compared to non‐CAI websites (n = 13). The CAI sites had more healthy lifestyle messages and child protection features compared to the non‐CAI sites.Conclusion:Systematic surveillance of the Consumer Protection Act in Quebec is recommended. In the rest of Canada, the CAI needs to be significantly expanded or replaced by regulatory measures to adequately protect children from the marketing of foods/beverages high in fat, sugar, and sodium on the Internet.