bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mevalonate kinase gene mutations and their clinical correlations in Behçet's disease
Authors: Arslan Taş Didem , Erken Eren , Yildiz Fatih , Dinkçi Suzan , Sakalli Hakan 
Published: January 2014

AbstractAimGenetics is suggested to play a role in the development of Behçet's disease (BD). Shared phenotipic features requires an approach to differential diagnosis from periodic febrile syndromes. We planned to study for mevalonate kinase (MVK) as a candidate for a susceptibility gene for Behçet's disease.MethodConsecutive Behçet patients and apperently healthy subjects were included. Severity score of Behçet disease was calculated. Genotyping of mevalonate kinase gene was performed by polymerase chain reaction/sequence‐based typing technique.ResultsFifty BD patients (median age: 38.30 ± 11.06 years) and 51 controls (median age: 33.88 ± 12.47 years) were recruited. Three types of mutations have been found: first, a single nucleotide polymorphism (SNP) c.769‐38C>T (rs35191208) in 21 of 50 BD patients and in 15 of 51 controls. Both groups were comparable for the frequency of c.769‐38C>T (P > 0.05). In all of the cases with c.769‐38C>T, a second SNP, c885+24G>A (rs2270374) was also present (previously reported to be in linkage disequilibrium with the first SNP). A third SNP, c.769‐7T>G (rs104895331) was found in three of 50 BD patients and in one of the control group. We found this SNP together with c769‐38C>T and c.885+24G>A. The neurological involvement was found to be more frequent in the BD patients with c.769‐3C>T when compared to the BD patients without this polymorphism (P = 0.012).ConclusionOur results suggested that the effects of MVK mutations in Behçet's disease could be an additional genetic susceptibility factor for the patients with neurological involvement. However, these results need confirmation in larger study populations and in different ethnic groups.
Decreased vitamin D levels in children with familial Mediterranean fever
Authors: Anık Ahmet , Çatlı Gönül , Makay Balahan , Abacı Ayhan , Küme Tuncay , Ünsal Erbil , Böber Ece 
Published: January 2014

AbstractObjectivesTo determine the frequency of vitamin D deficiency in children with familial Mediterranean fever (FMF) and to investigate the factors associated with low vitamin D status.Design and methodsForty‐four patients with FMF and 39 age‐ and sex‐matched healthy controls were enrolled in this study. Demographic data, FMF symptoms, disease duration, time to delay for diagnosis, duration of follow‐up, disease severity score, MEFV gene mutation, cumulative colchicine dose, compliance to treatment and serum C‐reactive protein levels were recorded for each patient. Serum 25‐hydroxyvitamin D levels were measured by an original commercial kit based on chemiluminescent microparticle immunoassay (CMIA).ResultsThe serum 25‐hydroxyvitamin D levels were significantly lower in FMF patients than the healthy controls (12.9 ± 3.6 and 16.3 ± 5.5 ng/mL, respectively, P = 0.001). Vitamin D levels were similar in patients homozygous for M694V and other genotypes (11.8 ± 3.7 and 13.2 ± 3.6 ng/mL, respectively, P = 0.21). Stepwise multiple linear regression analysis confirmed that the cumulative colchicine dose was the strongest independent variable correlating with vitamin D levels (r2 = 0.194, P = 0.001).ConclusionOur results suggest that serum 25‐hydroxyvitamin D levels are decreased in children with FMF. Cumulative colchicine dose appears to negatively affect vitamin D levels. The role of colchicine on vitamin D metabolism needs to be elicited.
Expression changes in human skeletal muscle miRNAs following 10 days of bed rest in young healthy males
Authors: Režen T. , Kovanda A. , Eiken O. , Mekjavic I. B. , Rogelj B. 
Published: January 2014

AbstractAimStudies in humans show global changes in mRNA and protein expression occur in human skeletal muscle during bed rest. As microRNAs are important regulators of expression, we analysed the global microRNA expression changes in human muscle following 10 days of sustained bed rest, with the rationale that miRNAs play key roles in atrophy of skeletal muscle.MethodsWe analysed expression of miRNA and selected target proteins before and after 10 days of bed rest in biopsies obtained from the vastus lateralis muscle of 6 healthy males.ResultsFifteen of 152 miRNAs detected in human muscle tissue were differentially expressed, and all of them with exception of two were downregulated. The downregulated miRNAs include the following: miR‐206, a myomir involved in function and maintenance of skeletal muscle; miR‐23a, involved in insulin response and atrophy defence; and several members of the let‐7 family involved in cell cycle, cell differentiation and glucose homeostasis. Predicted gene targets of these miRNAs are members of the MAPK, TNF receptor, ALK1, TGF‐beta receptor and SMAD signalling pathways. All of these pathways were previously indicated to be involved in skeletal muscle response to physical inactivity. We also measured protein expression of selected miRNA targets and observed a decrease in HDAC4.ConclusionOur data demonstrate that miRNAs in postural muscles are affected by sustained inactivity and unloading, as induced by prolonged bed rest, and hence are potentially involved in regulation of skeletal muscle adjustments to inactivity. We also propose new miRNAs involved in regulation of biological processes in adult human muscle.
The role of the vagal pathway and gastric dopamine in the gastroparesis of rats after a 6‐hydroxydopamine microinjection in the substantia nigra
Authors: Zheng L.‐F. , Song J. , Fan R.‐F. , Chen C.‐L. , Ren Q.‐Z. , Zhang X.‐L. , Feng X.‐Y. , Zhang Y. , Li L.‐S. , Zhu J.‐X. 
Published: January 2014

AbstractAimGastroparesis is a common non‐motor system symptom of Parkinson's disease (PD). However, the mechanism responsible for the gastric motor abnormality is not clear. We previously reported on the impaired gastric motility in 6‐hydroxydopamine (6‐OHDA) rats, which were treated with a bilateral microinjection of 6‐OHDA in the substantia nigra (SN). We hypothesize that the enhanced dopamine system and reduced acetylcholine (Ach) in gastric tissues might contribute to the delayed gastric emptying observed in PD.MethodsA strain gauge force transducer, digital X‐ray imaging system, Western blot, immunofluorescence and Radio Immunoassay were used in this study.ResultsDopaminergic neurones in the SN were greatly reduced following the bilateral microinjection of 6‐OHDA. 6‐OHDA rats exhibited impaired gastric motility and delayed gastric emptying, accompanied by increased dopamine content and the overexpression of D2 receptors in the stomach. The administration of the D2 receptor antagonist domperidone relieved gastric dysmotility in 6‐OHDA rats, but the D1 receptor antagonist SCH23390 failed to do so. Subdiaphragmatic vagotomy prevented the increase in the gastric dopamine content and D2 receptor expression and improved gastric dysmotility in 6‐OHDA rats.ConclusionDopaminergic deficiency in the SN results in impaired gastric motility, possibly as a result of the enhanced activity of dopamine system and reduced Ach in gastric tissue. The vagus nerve plays an important role in peripheral gastric motility disorder.
A randomized, controlled trial of Social Cognition and Interaction Training (SCIT) for outpatients with schizophrenia spectrum disorders
Authors: Roberts David L. , Combs Dennis R. , Willoughby Michael , Mintz Jim , Gibson Clare , Rupp Betty , Penn David L. 
Published: January 2014

ObjectivesIn schizophrenia, the ability to adaptively infer the thoughts and feelings of others (i.e., social cognition) is strongly associated with community functioning. Researchers have designed psychosocial interventions to improve social cognition with the aim of improving downstream social functioning. Social Cognition and Interaction Training (SCIT) is one such intervention. Previous research on SCIT has been promising, but has consisted largely of smaller trials with insufficient experimental control.DesignRandomized, controlled trial.MethodsThe current article reports on a controlled trial of 66 adults with schizophrenia randomized to receive either SCIT (n = 33), delivered in weekly group sessions, or treatment as usual (n = 33) for 6 months. Participants completed assessments of social cognition, social functioning, neurocognition and symptoms at baseline, post‐treatment, and 3‐month follow‐up.ResultsPrimary analyses suggest that SCIT may improve social functioning, negative symptoms, and possibly hostile attributional bias. Post‐hoc analyses suggest a dose–response effect.ConclusionsFindings are discussed in the context of continuing to refine and improve social cognitive interventions for schizophrenia.Practitioner points

Social cognitive intervention is a feasible and promising approach to improving social functioning among individuals with schizophrenia‐spectrum disorders.

Dose–response findings suggest that delivering social cognitive interventions with greater frequency may maximize their benefit to patients.

Research on social cognitive interventions is still young and effects from well‐controlled trials have been inconsistent.

It is not yet clear which components of social cognitive training may be the key active ingredients.
Pubertal growth spurt: the rapid progress and future directions for Child and Adolescent Mental Health
Authors: Ford Tamsin 
Published: January 2014

Child and Adolescent Mental Health aims to publish high‐quality, clinically relevant research to assist practitioners working in and/or interested in young people's mental health in their clinical practice and continuing professional development. This is last editorial that I will write for Child and Adolescent Mental Health before leaving the journal in the capable hands of Crispin Day, so it seems important to reflect on the rapid and important changes I have seen over the last 7 years.
What's mom got to do with it? Contributions of maternal executive function and caregiving to the development of executive function across early childhood
Authors: Cuevas Kimberly , Deater‐Deckard Kirby , Kim‐Spoon Jungmeen , Watson Amanda J. , Morasch Katherine C. , Bell Martha Ann 
Published: January 2014

AbstractExecutive functions (EFs; e.g. working memory, inhibitory control) are mediated by the prefrontal cortex and associated with optimal cognitive and socio‐emotional development. This study provides the first concurrent analysis of the relative contributions of maternal EF and caregiving to child EF. A group of children and their mothers (n = 62) completed age‐appropriate interaction (10, 24, 36 months) and EF tasks (child: 24, 36, and 48 months). Regression analyses revealed that by 36 months of age, maternal EF and negative caregiving behaviors accounted for unique variance in child EF, above and beyond maternal education and child verbal ability. These findings were confirmed when using an early child EF composite‐our most reliable measure of EF – and a similar pattern was found when controlling for stability in child EF. Furthermore, there was evidence that maternal EF had significant indirect effects on changes in child EF through maternal caregiving. At 24 months, EF was associated with maternal EF, but not negative caregiving behaviors. Taken together, these findings suggest that links between negative caregiving and child EF are increasingly manifested during early childhood. Although maternal EF and negative caregiving are related, they provide unique information about the development of child EF.A video abstract of this article can be viewed at http://www.youtube.com/watch?v=NPKXFbbrkps
Some views are better than others: evidence for a visual bias in object views self‐generated by toddlers
Authors: James Karin H. , Jones Susan S. , Swain Shelley , Pereira Alfredo , Smith Linda B. 
Published: January 2014

AbstractHow objects are held determines how they are seen, and may thereby play an important developmental role in building visual object representations. Previous research suggests that toddlers, like adults, show themselves a disproportionate number of planar object views – that is, views in which the objects' axes of elongation are perpendicular or parallel to the line of sight. Here, three experiments address three explanations of this bias: (1) that the locations of interesting features of objects determine how they are held and thus how they are viewed; (2) that ease of holding determines object views; and (3) that there is a visual bias for planar views that exists independently of holding and of interesting surface properties. Children 18 to 24 months of age manually and visually explored novel objects (1) with interesting features centered in planar or ¾ views; (2) positioned inside Plexiglas boxes so that holding biased either planar or non‐planar views; and (3) positioned inside Plexiglas spheres, so that no object properties directly influenced holding. Results indicate a visual bias for planar views that is influenced by interesting surface properties and ease of holding, but that continues to exist even when these factors push for alternative views.
Young‐age gender differences in mathematics mediated by independent control or uncontrollability
Authors: Zirk‐Sadowski Jan , Lamptey Charlotte , Devine Amy , Haggard Mark , Szűcs Dénes 
Published: January 2014

AbstractWe studied whether the origins of math anxiety can be related to a biologically supported framework of stress induction: (un)controllability perception, here indicated by self‐reported independent efforts in mathematics. Math anxiety was tested in 182 children (8‐ to 11‐year‐olds).Latent factor modelingwas used to test hypotheses on plausible causal processes and mediations within competing models in quasi‐experimental contrasts. Uncontrollability perception in mathematics, or (in)dependence of efforts, best fit the data as an antecedent of math anxiety. In addition, the relationship of math anxiety with gender was fully mediated by adaptive perception of control (i.e. controllability). That is, young boys differ from girls in terms of their experience of control in mathematics learning. These differences influence math anxiety. Our findings are consistent with recent suggestions in clinical literature according to which uncontrollability makes women more susceptible to fear and anxiety disorders.A video abstract of this article can be viewed athttp://www.youtube.com/watch?v=I4b_47Y-e_U
Contributions ofCOMTVal158Met to cognitive stability and flexibility in infancy
Authors: Markant Julie , Cicchetti Dante , Hetzel Susan , Thomas Kathleen M. 
Published: January 2014

AbstractAdaptive behavior requires focusing on relevant tasks while remaining sensitive to novel information. In adult studies of cognitive control, cognitive stability involves maintaining robust cognitive representations while cognitive flexibility involves updating of representations in response to novel information. Previous adult research has shown that the Met allele of theCOMTVal158Met gene is associated with enhanced cognitive stability whereas the Val allele is associated with enhanced cognitive flexibility. Here we propose that the stability/flexibility framework can also be applied to infant research, with stability mapping onto early indices of behavioral regulation and flexibility mapping onto indices of behavioral reactivity. From this perspective, the present study examined whetherCOMTgenotype was related to 7‐month‐old infants' reactivity to novel stimuli and behavioral regulation. Cognitive stability and flexibility were assessed using (1) a motor approach task, (2) a habituation task, and (3) a parental‐report measure of temperament. Val carriers were faster to reach for novel toys during the motor approach task and received higher scores on the temperament measure of approach to novelty. Met carriers showed enhanced dishabituation to the novel stimulus during the habituation task and received higher scores on the temperament measures of sustained attention and behavioral regulation. Overall, these results are consistent with adult research suggesting that the Met and Val alleles are associated with increased cognitive stability and flexibility, respectively, and thus suggest thatCOMTgenotype may similarly affect cognitive function in infancy.
Emotional engagements predict and enhance social cognition in young chimpanzees
Authors: Bard Kim A. , Bakeman Roger , Boysen Sarah T. , Leavens David A. 
Published: January 2014

AbstractSocial cognition in infancy is evident in coordinated triadic engagements, that is, infants attending jointly with social partners and objects. Current evolutionary theories of primate social cognition tend to highlight species differences in cognition based on human‐unique cooperative motives. We consider a developmental model in which engagement experiences produce differential outcomes. We conducted a 10‐year‐long study in which two groups of laboratory‐raised chimpanzee infants were given quantifiably different engagement experiences. Joint attention, cooperativeness, affect, and different levels of cognition were measured in 5‐ to 12‐month‐old chimpanzees, and compared to outcomes derived from a normative human database. We found that joint attention skills significantly improved across development for all infants, but by 12 months, the humans significantly surpassed the chimpanzees. We found that cooperativeness was stable in the humans, but by 12 months, the chimpanzee group given enriched engagement experiences significantly surpassed the humans. Past engagement experiences and concurrent affect were significant unique predictors of both joint attention and cooperativeness in 5‐ to 12‐month‐old chimpanzees. When engagement experiences and concurrent affect were statistically controlled, joint attention and cooperation were not associated. We explain differential social cognition outcomes in terms of the significant influences of previous engagement experiences and affect, in addition to cognition. Our study highlights developmental processes that underpin the emergence of social cognition in support of evolutionary continuity.
Screening for childhood mental health disorders using the Strengths and Difficulties Questionnaire: the validity of multi‐informant reports
Authors: Johnson Samantha , Hollis Chris , Marlow Neil , Simms Victoria , Wolke Dieter 
Published: January 2014

AimThis study investigated the diagnostic accuracy of the Strengths and Difficulties Questionnaire (SDQ) in a population of children born extremely preterm (<26wks gestation).MethodParents and teachers of 219 extremely preterm children (118 females, 101 males; age 11y) were asked to complete the SDQ to screen for psychological problems. Multi‐informant ratings were aggregated using two methods: combined (parent or teacher rated the child with problems) and pervasive (parent and teacher rated the child with problems). Psychiatric diagnoses were assigned using the Development and Well‐Being Assessment.ResultsPervasive ratings had the greatest diagnostic accuracy for emotional disorders (89%), conduct disorders (94%), attention‐deficit–hyperactivity disorder (ADHD; 90%), and autism spectrum disorders (ASDs; 94%), but were associated with low sensitivity (≤50%). For clinical use, combined ratings were best for detecting emotional disorders (sensitivity 77%, specificity 75%), conduct disorders (83%, 88%), and ADHD (85%, 72%). Parent ratings were best for ASDs (93%, 66%). Teacher ratings significantly improved prediction over parent ratings alone for conduct disorders (∆χ2=9.3, p=0.002) and ADHD (∆χ2=24.1, p<0.001) only.InterpretationMulti‐informant data are preferable for assessing most mental health outcomes using the SDQ. As an outcome measure, pervasive ratings have the best predictive accuracy. For screening, combined ratings are best for detecting ADHD and emotional and conduct disorders. For ASDs, parent ratings were best.
Global suppression of electrocortical activity in unilateral perinatal thalamic stroke
Authors: Kharoshankaya Liudmila , Filan Peter M , Bogue Conor O , Murray Deirdre M , Boylan Geraldine B 
Published: January 2014

We present an unusual case of persistent generalized electroencephalography (EEG) suppression and right‐sided clonic seizures in a male infant born at 40+2 weeks' gestation, birthweight 3240g, with an isolated unilateral thalamic stroke. The EEG at 13 hours after birth showed a generalized very low amplitude background pattern, which progressed to frequent electrographic seizures over the left hemisphere. The interictal background EEG pattern remained grossly abnormal over the next 48 hours, showing very low background amplitudes (<10μV). Magnetic resonance imaging revealed an isolated acute left‐sided thalamic infarction. This is the first description of severe global EEG suppression caused by an isolated unilateral thalamic stroke and supports the role of the thalamus as the control centre for cortical electrical activity.
Agrobacterium tumefaciens‐mediated transformation for targeted disruption and over expression of genes in the poplar pathogenSphaerulina musiva
Authors: Foster A. J. , Morency M. J. , Séguin A. , Tanguay P. 
Published: January 2014

SummarySphaerulina musivacauses both leaf spots and cankers on poplar. Leaf spots can lead to defoliation and cankers on branches and primary stems can lead to stem breakage and tree mortality. The recent availability of both theS. musivaandPopulus trichocarpagenomes offers a great opportunity to study host–pathogen interactions. To better understand the factors involved inS. musivapathology, we present a strategy for the transformation of this species usingAgrobacterium tumefaciens. Binary plasmids were generated with hygromycin B phosphotransferase (hph) flanked by upstream and downstream sequences of polyketide synthase‐like (PKS‐L1) gene to generate targeted gene disruptants by homologous recombination. Plasmids were also constructed for constitutive expression reporter geneseGFPandmCherry to help with histological characterization of the pathogen during infection. Gene knockouts were identified byPCRand confirmed by sequencing and Southern blotting. No significant differences were observed in melanin production betweenPKS‐L1 disruptants and wild type isolates. Colonies expressing reporter genes were identified by fluorescent stereomicroscopy. This method is a promising tool for the characterization of pathogen genes through reverse and forward genetics and for introducing markers for histopathological study.
Functional connectivity‐based parcellation of the human sensorimotor cortex
Authors: Long Xiangyu , Goltz Dominique , Margulies Daniel S. , Nierhaus Till , Villringer Arno 
Published: January 2014

AbstractTask‐based functional magnetic resonance imaging (fMRI) has been successfully employed to obtain somatotopic maps of the human sensorimotor cortex. Here, we showed through direct comparison that a similar functional map can be obtained, independently of a task, by performing a connectivity‐based parcellation of the sensorimotor cortex based on resting‐state fMRI. Cortex corresponding to two adjacent Brodmann areas (BA 3 and BA 4) was selected as the sensorimotor area. Parcellation was obtained along a medial–lateral axis, which was confirmed to be somatotopic (corresponding roughly to an upper, middle and lower limb, respectively) by comparing it with maps obtained using motoric task‐based fMRIin the same participants. Interestingly, the resting‐state parcellation map demonstrated higher correspondence to the task‐based divisions after individuals performed the motor task. Using the resting‐state fMRIdata, we also observed higher functional correlations between the centrally located hand region and the other two regions, than between the foot and tongue. The functional relevance of these somatosensory parcellation results indicates the feasibility of a wide range of potential applications to brain mapping.