bluuebunny/crossref_metadata_2025_split huggingface dataset:
Symptoms of Attention-Deficit Hyperactivity Disorder, Nonsyndromic Orofacial Cleft Children, and Dopamine Polymorphisms
Authors: Hopkins Emily E. , Wallace Meredith L. , Conley Yvette P. , Marazita Mary L. 
Published: October 2014

Purpose: Attention-deficit hyperactivity disorder (ADHD) is a common childhood neurobehavioral disorder characterized by inattention, poor impulse control, and motor restlessness. Risk factors include familial stressors, anxiety disorders, learning disabilities, abnormal brain development, heritability, and dopamine polymorphisms. Children with an orofacial clefting (OFC) history are at increased risk of familial stressors, anxiety disorders, learning disabilities, and abnormal brain development. Given this overlap, we present a conceptual model proposing that children with OFC may be more likely to exhibit ADHD symptoms than children without and explore this relationship using pilot data. Design: This cross-sectional pilot study included 29 children with OFC or a first-degree relative with OFC recruited through a cleft research registry. Methods: The Disruptive Behavior Disorder Scale was used to collect data on children’s ADHD symptoms. Saliva or whole blood samples were collected from children and parents for DNA analyses. ADHD-associated dopamine polymorphisms within the DRD4, DRD2, and DAT1 genes were genotyped. We tested for associations between presence of OFC and dopamine polymorphisms. Mixed-effects models tested whether children with OFC and dopamine polymorphisms had more ADHD symptoms. Results: The DRD4 4-repeat allele was associated with increased inattentive ADHD symptoms ( p = .03). Having the DRD2 Taq1A1 allele and OFC predicted fewer ( p = .02) inattentive ADHD symptoms. Children with OFC were significantly less likely to have the DAT1 10-repeat allele ( p = .04). Conclusions: Results indicate that further investigation among a larger sample of children with OFC is warranted, particularly for relationships with inattentive ADHD.
Effects of a restricted fetal growth environment on human kidney morphology, cell apoptosis and gene expression
Authors: Wang Yan-Ping , Chen Xu , Zhang Zhi-Kun , Cui Hong-Yan , Wang Peng , Wang Yue 
Published: October 2014

Objective: Kidney development is key to the onset of hypertension and cardiovascular diseases in adults, and in the fetal stage will be impaired by a lack of nutrients in utero in animal models. However, few human studies have been performed. Methods: Kidney samples from fetuses in a fetal growth restriction (FGR) environment were collected and the morphological characteristics were observed. Potentially molecular mechanisms were explored by analyzing apoptosis and kidney-development related gene expression. Results: The results indicated that no malformations were observed in the kidney samples of the FGR group, but the mean kidney weight and volume were significantly decreased. Moreover, the ratio of apoptotic cells and Bax-positive cells was increased and the ratio of Bcl-2-positive cells was decreased in the FGR group, indicating potential apoptosis induction under an in utero FGR environment. Finally, aberrant expression of renin and angiotensinogen indicated potential kidney functional abnormalities in the FGR group. Conclusions: Our study suggested increased apoptosis and decreased renin and angiotensinogen expression during human kidney development in an FGR environment. The current results will be helpful to further explore the molecular mechanism of FGR and facilitate future studies of hypertension and cardiovascular diseases and the establishment of preventive methods.
Long-term effects of adrenalectomy or spironolactone on blood pressure control and regression of left ventricle hypertrophy in patients with primary aldosteronism
Authors: Indra Tomáš , Holaj Robert , Štrauch Branislav , Rosa Ján , Petrák Ondřej , Šomlóová Zuzana , Widimský Jiří 
Published: October 2014

Introduction: Primary aldosteronism (PA) represents the most common cause of secondary hypertension. Beyond increased blood pressure, additional harmful effects of aldosterone excess including inappropriate left ventricle (LV) hypertrophy were found. We evaluated the effect of adrenalectomy and spironolactone on blood pressure and myocardial remodelling in a long-term follow-up study. Methods: Thirty-one patients with PA were recruited. Fifteen patients with confirmed aldosterone-producing adenoma underwent adrenalectomy; in the remaining 16 patients, treatment with spironolactone was initiated. Laboratory data, 24-hour ambulatory blood pressure monitoring (ABPM) and echocardiography parameters were evaluated at baseline and at a median follow-up of 64 months. Results: Both approaches reduced blood pressure ( p = 0.001 vs. baseline). In both groups we observed a decrease in end-diastolic ( p = 0.04, p = 0.01) and end-systolic LV cavity diameters ( p = 0.03, p = 0.01). Interventricular septum and posterior wall thickness reduction was significant only after adrenalectomy ( p = 0.01, p = 0.03) as was reduction of LV mass index ( p = 0.004). A trend to lower LV mass on spironolactone was caused predominantly by diminution of the LV cavity, which was reflected in increased relative wall thickness ( p = 0.05). Conclusions: Although both surgical and conservative treatment can induce a long-term decrease of blood pressure, adrenalectomy seems to be more effective in reduction of LV mass, as it reverses both wall thickening and enlargement of the LV cavity.
Do Perceptions of Insulin Pump Usability Impact Attitudes Toward Insulin Pump Therapy? A Pilot Study of Individuals With Type 1 and Insulin-Treated Type 2 Diabetes
Authors: Chamberlain James J. , Gilgen Emily 
Published: October 2014

Background: We assessed the impact of perceived insulin pump usability on attitudes toward insulin pump therapy in diabetic individuals currently treated with multiple daily insulin injections (MDI). Method: This comparative, single-arm study recruited 28 adults with type 1 (n = 16) and insulin-treated type 2 diabetes (n = 12) to evaluate 2 current insulin pumps: Medtronic Revel 723 (Pump 1), Asante Snap Insulin Pump (Pump 2). Participants were randomized 1:1 to 1 of 2 assessment sequences: Pump 1 followed by Pump 2; and Pump 2 followed by Pump 1. Structured observational protocols were utilized to assess participants’ ability and time required to learn/perform common tasks associated with pump setup/use. Participants used a modified version of the System Usability Scale (SUS) and investigator-developed questionnaires to rate pump usability and task difficulty; pre-post questionnaires assessed changes in attitudes toward insulin pump therapy. Results: All participants completed the study. SUS scores showed Pump 2 to be more usable than Pump 1 on all usability attributes. Participants rated Pump 2 more positively than Pump 1, overall mean SUS scores of 5.7 versus 4.1 respectively, F(1, 52) = 32.7, P < .001, and SUS scores were higher if participants used the Pump 2 last, 5.3 versus 4.4 for Pump 1 last, F(1, 52) = 10.8, P < .01. Pump 2 was preferred for all tasks: manual bolus (86%), bolus calculation (71%), managing basal rates (93%), interpreting alarms (96%), transferring settings (100%), changing insulin and infusion sets (93%), all P < .05. Conclusions: Perceptions of pump usability can directly impact acceptance and use of features that may benefit those who wear them. Simpler pump devices that decrease perceptions of complexity may encourage broader use of this technology.
Genetic profile of T-cell acute lymphoblastic leukemias with MYC translocations
Authors: La Starza Roberta , Borga Chiara , Barba Gianluca , Pierini Valentina , Schwab Claire , Matteucci Caterina , Lema Fernandez Anair G. , Leszl Anna , Cazzaniga Gianni , Chiaretti Sabina , Basso Giuseppe , Harrison Christine J. , te Kronnie Geertruy , Mecucci Cristina 
Published: October 2014

Key Points
MYC translocations represent a genetic subgroup of NOTCH1-independent T-ALL clustered within the TAL/LMO category. MYC translocations are secondary abnormalities, which appear to be associated with induction failure and relapse.
Potential applications of magnetic particles to detect and treat Alzheimer's disease
Authors: Busquets Maria Antònia , Sabaté Raimon , Estelrich Joan 
Published: October 2014

Abstract
Nanotechnology is an exciting and promising scientific discipline. At the nanoscale, a material displays novel physical properties that offer many new and beneficial products and applications. In particular, magnetic nanoparticles - a core/shell nanoparticle - present considerable diagnostic and therapeutic potentials, and superparamagnetic iron oxide nanoparticles (SPIONs) are considered promising theranostic tools. Alzheimer's disease (AD) is a neurodegenerative disorder that predominantly affects people over 65 years of age. The disease is characterized by the presence of extracellular plaques in the brain which are formed by interwoven fibrils composed of variants of the β-amyloid peptide. Medication can temporarily retard worsening of symptoms, but only in the first stages of the disease; early detection is thus of crucial importance. This minireview covers the progress made in research on the use of magnetic nanoparticles for ex vivo and/or in vivo detection and diagnosis of AD by means of magnetic resonance imaging (MRI), or to label peptides and fibrils. Of particular importance is the use of these nanoparticles to detect AD biomarkers in biological fluids. A description is given of the bio-barcode amplification assay using functionalized magnetic particles, as well as the use of such nanoparticles as a system for inhibiting or delaying the assembly of peptide monomers into oligomers and fibrils. Lastly, a brief overview is given of possible future lines of research in this.
Transcriptome-wide characterization of the eIF4A signature highlights plasticity in translation regulation
Authors: Rubio Claudia A , Weisburd Benjamin , Holderfield Matthew , Arias Carolina , Fang Eric , DeRisi Joseph L , Fanidi Abdallah 
Published: October 2014

Abstract
Background
Protein synthesis is tightly regulated and alterations to translation are characteristic of many cancers. Translation regulation is largely exerted at initiation through the eukaryotic translation initiation factor 4 F (eIF4F). eIF4F is pivotal for oncogenic signaling as it integrates mitogenic signals to amplify production of pro-growth and pro-survival factors. Convergence of these signals on eIF4F positions this factor as a gatekeeper of malignant fate. While the oncogenic properties of eIF4F have been characterized, genome-wide evaluation of eIF4F translational output is incomplete yet critical for developing novel translation-targeted therapies.

Results
To understand the impact of eIF4F on malignancy, we utilized a genome-wide ribosome profiling approach to identify eIF4F-driven mRNAs in MDA-MB-231 breast cancer cells. Using Silvestrol, a selective eIF4A inhibitor, we identify 284 genes that rely on eIF4A for efficient translation. Our screen confirmed several known eIF4F-dependent genes and identified many unrecognized targets of translation regulation. We show that 5’UTR complexity determines Silvestrol-sensitivity and altering 5’UTR structure modifies translational output. We highlight physiological implications of eIF4A inhibition, providing mechanistic insight into eIF4F pro-oncogenic activity.

Conclusions
Here we describe the transcriptome-wide consequence of eIF4A inhibition in malignant cells, define mRNA features that confer eIF4A dependence, and provide genetic support for Silvestrol’s anti-oncogenic properties. Importantly, our results show that eIF4A inhibition alters translation of an mRNA subset distinct from those affected by mTOR-mediated eIF4E inhibition. These results have significant implications for therapeutically targeting translation and underscore a dynamic role for eIF4F in remodeling the proteome toward malignancy.
VariantDB: a flexible annotation and filtering portal for next generation sequencing data
Authors: Vandeweyer Geert , Van Laer Lut , Loeys Bart , Van den Bulcke Tim , Kooy R Frank 
Published: October 2014

AbstractInterpretation of the multitude of variants obtained from next generation sequencing (NGS) is labor intensive and complex. Web-based interfaces such as Galaxy streamline the generation of variant lists but lack flexibility in the downstream annotation and filtering that are necessary to identify causative variants in medical genomics. To this end, we built VariantDB, a web-based interactive annotation and filtering platform that automatically annotates variants with allele frequencies, functional impact, pathogenicity predictions and pathway information. VariantDB allows filtering by all annotations, under dominant, recessive or de novo inheritance models and is freely available at http://www.biomina.be/app/variantdb/.
Activation of fibroblast-like synoviocytes derived from rheumatoid arthritis via lysophosphatidic acid-lysophosphatidic acid receptor 1 cascade
Authors: Miyabe Yoshishige , Miyabe Chie , Iwai Yoshiko , Yokoyama Waka , Sekine Chiyoko , Sugimoto Kazutaka , Harigai Masayoshi , Miyasaka Masayuki , Miyasaka Nobuyuki , Nanki Toshihiro 
Published: October 2014

Abstract
Introduction
Lysophosphatidic acid (LPA) is a bioactive lipid that binds to G protein-coupled receptors (LPA1-6). Recently, we reported that abrogation of LPA receptor 1 (LPA1) ameliorated murine collagen-induced arthritis, probably via inhibition of inflammatory cell migration, Th17 differentiation and osteoclastogenesis. In this study, we examined the importance of the LPA-LPA1 axis in cell proliferation, cytokine/chemokine production and lymphocyte transmigration in fibroblast-like synoviocytes (FLSs) obtained from the synovial tissues of rheumatoid arthritis (RA) patients.

Methods
FLSs were prepared from synovial tissues of RA patients. Expression of LPA1-6 was examined by quantitative real-time RT-PCR. Cell surface LPA1 expression was analyzed by flow cytometry. Cell proliferation was analyzed using a cell-counting kit. Production of interleukin 6 (IL-6), vascular endothelial growth factor (VEGF), chemokine?(C-C motif) ligand 2 (CCL2), metalloproteinase 3 (MMP-3) and chemokine (C-X-C motif) ligand 12 (CXCL12) was measured by enzyme-linked immunosorbent assay. Pseudoemperipolesis was evaluated using a coculture of RA FLSs and T or B cells. Cell motility was examined by scrape motility assay. Expression of adhesion molecules was determined by flow cytometry.

Results
The expression of LPA1 mRNA and cell surface LPA1 was higher in RA FLSs than in FLSs from osteoarthritis tissue. Stimulation with LPA enhanced the proliferation of RA FLSs and the production of IL-6, VEGF, CCL2 and MMP-3 by FLSs, which were suppressed by an LPA1 inhibitor (LA-01). Ki16425, another LPA1 antagonist, also suppressed IL-6 production by LPA-stimulated RA FLSs. However, the production of CXCL12 was not altered by stimulation with LPA. LPA induced the pseudoemperipolesis of T and B cells cocultured with RA FLSs, which was suppressed by LPA1 inhibition. In addition, LPA enhanced the migration of RA FLSs and expression of vascular cell adhesion molecule and intercellular adhesion molecule on RA FLSs, which were also inhibited by an LPA1 antagonist.

Conclusions
Collectively, these results indicate that LPA-LPA1 signaling contributes to the activation of RA FLSs.
Timing of (supplemental) parenteral nutrition in critically ill patients: a systematic review
Authors: Bost Rianne BC , Tjan Dave HT , van Zanten Arthur RH 
Published: October 2014

Abstract
Supplemental parenteral nutrition (SPN) is used in a step-up approach when full enteral support is contraindicated or fails to reach caloric targets. Recent nutrition guidelines present divergent advices regarding timing of SPN in critically ill patients ranging from early SPN (<48 h after admission; EPN) to postponing initiation of SPN until day 8 after Intensive Care Unit (ICU) admission (LPN). This systematic review summarizes results of prospective studies among adult ICU patients addressing the best timing of (supplemental) parenteral nutrition (S)PN. A structured PubMed search was conducted to identify eligible articles. Articles were screened and selected using predetermined criteria and appraised for relevance and validity. After critical appraisal, four randomized controlled trials (RCTs) and two prospective observational studies remained. One RCT found a higher percentage of alive discharge from the ICU at day 8 in the LPN group compared to EPN group (p = 0.007) but no differences in ICU and in-hospital mortality. None of the other RCTs found differences in ICU or in-hospital mortality rates. Contradicting or divergent results on other secondary outcomes were found for ICU length of stay, hospital length of stay, infection rates, nutrition targets, duration of mechanical ventilation, glucose control, duration of renal replacement therapy, muscle wasting and fat loss. Although the heterogeneity in quality and design of relevant studies precludes firm conclusions, it is reasonable to assume that in adult critically ill patients, there are no clinically relevant benefits of EPN compared with LPN with respect to morbidity or mortality end points, when full enteral support is contraindicated or fails to reach caloric targets. However, considering that infectious morbidity and resolution of organ failure may be negatively affected through mechanisms not yet clearly understood and acquisition costs of parenteral nutrition are higher, the early administration of parenteral nutrition cannot be recommended.
Expression of transcript factors SALL4 and OCT4 in a subset of non-small cell lung carcinomas (NSCLC)
Authors: Rodriguez Erika , Chen Li , Ao Ming-Hui , Geddes Susan , Gabrielson Ed , Askin Frederic , Zhang Hui , Li Qing Kay 
Published: October 2014

Abstract

Background
SALL4 and OCT4 are transcription factors and play essential roles in stem cell development and oncogenesis. However, the expression of these transcription factors has not been well studied in lung cancers. In this study, we evaluated the expression of SALL4 and OCT4 in non-small cell lung carcinomas (NSCLC) by immunochemistry. NSCLC tissue microarrays (TMAs) were constructed with a total of 77 primary lung adenocarcinomas (ADCs) and 90 primary lung squamous cell carcinomas (SqCCs). A mouse monoclonal anti-human SALL4 (1:400 dilution) and a polyclonal anti-human OCT4 (1:200 dilution) antibodies were used. Nuclear staining of SALL4 and OCT4 was scored semi-quantitatively using a three tiered scale. The expressions of SALL4 and OCT4 were correlated with the tumor differentiation, pathological stage, and patients' clinical information.

Results
In primary ADCs, the stronger expression of SALL4 and OCT4 was 7.8% and 9.1%, respectively. The stronger expression of SALL4 was inversely correlated with tumor differentiations. In primary SqCCs, the stronger expressions of SALL4 and OCT4 were 16.7% and 0%, respectively. The expression of SALL4 is correlated with the expression of OCT4, but inversely correlated with the tumor stage in SqCCs.

Conclusions
We found that both SALL4 and OCT4 were differentially expressed in a subset of primary ADC and SqCC. Our finding suggest that different stem cell markers may be expressed and/or play differential role in different subtypes of NSCLC. The potential role of SALL4 and OCT4 needs to be further investigated in NSCLC.
Excess of non-right-handedness in schizophrenia: meta-analysis of gender effects and potential biases in handedness assessment
Authors: Hirnstein Marco , Hugdahl Kenneth 
Published: October 2014

BackgroundThe notion that schizophrenia is characterised by increased non-right-handedness is a cornerstone of the theory that schizophrenia arises from, and is genetically linked to, abnormal brain lateralisation. Reviews and meta-analyses have reported higher rates of non-right-handers in patients with schizophrenia. However, this was suggested to be the result of a gender artefact or a hidden bias in self-report handedness questionnaires.AimsTo investigate using a meta-analytical approach whether the excess of non-right-handedness is seen in both females and males, and also when handedness is assessed behaviourally.MethodElectronic databases were searched for studies that reported (a) the rate of female and male non-right-handers in schizophrenia compared with controls and (b) the rate of non-right-handers in schizophrenia (regardless of gender) based on behavioural handedness assessment.ResultsThe odds ratios (ORs) for females (OR = 1.63; based on 621 patients, 3747 controls) and males (OR = 1.50; based on 1213 patients, 3800 controls) differed significantly from 1.0, indicating both female and male patients were more often non-right-handed than controls. Moreover, there was an excess of non-right-handedness in patients with schizophrenia when handedness was assessed behaviourally: OR = 1.84 (1255 patients, 6260 controls). Even when both gender and behavioural handedness assessment were controlled for simultaneously, the excess of non-right-handedness persisted.ConclusionsThe findings clearly demonstrate that the excess of non-right-handedness in schizophrenia does not result from a gender artefact or from biased handedness questionnaires. It is a true empirical effect and may indeed reflect a genetic link between schizophrenia and brain lateralisation.
Psychotherapy for subclinical depression: meta-analysis
Authors: Cuijpers Pim , Koole Sander L. , van Dijke Annemiek , Roca Miquel , Li Juan , Reynolds Charles F. 
Published: October 2014

BackgroundThere is controversy about whether psychotherapies are effective in the treatment of subclinical depression, defined by clinically relevant depressive symptoms in the absence of a major depressive disorder.AimsTo examine whether psychotherapies are effective in reducing depressive symptoms, reduce the risk of developing major depressive disorder and have comparable effects to psychological treatment of major depression.MethodWe conducted a meta-analysis of 18 studies comparing a psychological treatment of subclinical depression with a control group.ResultsThe target groups, therapies and characteristics of the included studies differed considerably from each other, and the quality of many studies was not optimal. Psychotherapies did have a small to moderate effect on depressive symptoms against care as usual at the post-test assessment (g = 0.35, 95% CI 0.23–0.47; NNT = 5, 95% CI 4–8) and significantly reduced the incidence of major depressive episodes at 6 months (RR = 0.61) and possibly at 12 months (RR = 0.74). The effects were significantly smaller than those of psychotherapy for major depressive disorder and could be accounted for by non-specific effects of treatment.ConclusionsPsychotherapy may be effective in the treatment of subclinical depression and reduce the incidence of major depression, but more high-quality research is needed.
Does the stigma of mental illness contribute to suicidality?
Authors: Rüsch Nicolas , Zlati Alina , Black Georgia , Thornicroft Graham 
Published: October 2014

SummaryMental disorders are associated with suicidality and with stigma. Many consequences of stigma, such as social isolation, unemployment, hopelessness or stress, are risk factors for suicidality. Research is needed on the link between stigma and suicidality as well as on anti-stigma interventions and their effects on suicidality.
Private in-patient psychiatry in the USA
Authors: Russakoff L. Mark 
Published: October 2014

SummaryThe US healthcare system is in the midst of major changes driven by four forces: the growing consensus in the country that the current system is financially unsustainable; managed care and parity legislation; the Affordable Care Act 2010; and the ageing of the ‘baby boomer’ generation. How these forces will combine and interact is unclear. The current state of in-patient psychiatric care and trends affecting the private practice of in-patient psychiatry over the next few years will be described.