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https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#1
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28634313/-a-case-of-bilateral-traumatic-carotid-cavernous-fistula
#2
Hanae Terashima, Takashi Higa, Koichi Kato, Tadasuke Tominaga, Masanori Nakagawa, Shigeru Kadoyama, Hiroshi Ujiie, Akira Teramoto
Bilateral traumatic carotid-cavernous fistula(CCF)is rare. It is most commonly caused by a direct head or face injury involving the cavernous sinus and develops immediately after trauma. We report a case of bilateral traumatic CCF that occurred as an intracerebral hematoma(ICH)mimicking apoplexy 5 months later. We treated the patient with point occlusion of venous reflux causing an ICH using coil embolization to remove the hematoma. Three days after we performed trans-venous occlusion of the intercavernous connection and right cavernous sinus using coil embolization through the right inferior petrosal vein, it was identified that the left CCF was occluded after first embolization into the left sylvian vein...
June 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28634033/nickel-sulfate-promotes-il-17a-producing-cd4-t-cells-by-an-il-23-dependent-mechanism-regulated-by-tlr4-and-jak-stat-pathways
#3
Rami Bechara, Diane Antonios, Hayat Azouri, Marc Pallardy
Allergic contact dermatitis, caused by nickel, is a delayed-type hypersensitivity reaction and 14.5% of the general population may be affected in Europe. Among a wide range of cytokines, the IL-12 family has unique structural and immunological characteristics. While IL-12p70 promotes T helper (Th) 1 cells polarization, IL-23 promotes Th17 cells development and both have been isolated from nickel-allergic patients. In this work, we were interested in understanding the mechanism behind nickel-induced Th17 cells development...
June 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28633936/additional-comparisons-of-randomization-test-procedures-for-single-case-multiple-baseline-designs-alternative-effect-types
#4
Joel R Levin, John M Ferron, Boris S Gafurov
A number of randomization statistical procedures have been developed to analyze the results from single-case multiple-baseline intervention investigations. In a previous simulation study, comparisons of the various procedures revealed distinct differences among them in their ability to detect immediate abrupt intervention effects of moderate size, with some procedures (typically those with randomized intervention start points) exhibiting power that was both respectable and superior to other procedures (typically those with single fixed intervention start points)...
August 2017: Journal of School Psychology
https://www.readbyqxmd.com/read/28633640/biological-mechanisms-discriminating-growth-rate-and-adult-body-weight-phenotypes-in-two-chinese-indigenous-chicken-breeds
#5
Tengfei Dou, Sumei Zhao, Hua Rong, Dahai Gu, Qihua Li, Ying Huang, Zhiqiang Xu, Xiaohui Chu, Linli Tao, Lixian Liu, Changrong Ge, Marinus F W Te Pas, Junjing Jia
BACKGROUND: Intensive selection has resulted in increased growth rates and muscularity in broiler chickens, in addition to adverse effects, including delayed organ development, sudden death syndrome, and altered metabolic rates. The biological mechanisms underlying selection responses remain largely unknown. Non-artificially-selected indigenous Chinese chicken breeds display a wide variety of phenotypes, including differential growth rate, body weight, and muscularity. The Wuding chicken breed is a fast growing large chicken breed, and the Daweishan mini chicken breed is a slow growing small chicken breed...
June 20, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28633325/malus-hupehensis-mir168-targets-to-argonaute1-and-contributes-to-the-resistance-against-botryosphaeria-dothidea-infection-by-altering-defense-responses
#6
Xinyi Yu, Yingjun Hou, Weiping Chen, Sanhong Wang, Peihong Wang, Shenchun Qu
MicroRNA-mediated post transcriptional regulation plays a fundamental role in various plant physiological processes, including responses to pathogens. MicroRNA168 has been implicated as an essential factor of miRNA pathways by targeting ARGONAUTE1 (AGO1), the core component of the RNA-induced silencing complex (RISC). A fluctuation in AGO1 expression influences various plant-pathogen interactions, and the homeostasis of AGO1 and miR168 accumulation is maintained by a complicated feedback regulatory loop. In this study, the connection between miR168 and the resistance of M...
June 13, 2017: Plant & Cell Physiology
https://www.readbyqxmd.com/read/28632779/base-rate-sensitivity-through-implicit-learning
#7
Andrew J Wismer, Corey J Bohil
Two experiments assessed the contributions of implicit and explicit learning to base-rate sensitivity. Using a factorial design that included both implicit and explicit learning disruptions, we tested the hypothesis that implicit learning underlies base-rate sensitivity from experience (and that explicit learning contributes comparatively little). Participants learned to classify two categories of simple stimuli (bar graph heights) presented in a 3:1 base-rate ratio. Participants learned either from "observational" training to disrupt implicit learning or "response" training which supports implicit learning...
2017: PloS One
https://www.readbyqxmd.com/read/28632537/platelet-counts-and-postoperative-stroke-after-coronary-artery-bypass-grafting-surgery
#8
Jörn A Karhausen, Alan M Smeltz, Igor Akushevich, Mary Cooter, Mihai V Podgoreanu, Mark Stafford-Smith, Susan M Martinelli, Manuel L Fontes, Miklos D Kertai
BACKGROUND: Declining platelet counts may reveal platelet activation and aggregation in a postoperative prothrombotic state. Therefore, we hypothesized that nadir platelet counts after on-pump coronary artery bypass grafting (CABG) surgery are associated with stroke. METHODS: We evaluated 6 130 adult CABG surgery patients. Postoperative platelet counts were evaluated as continuous and categorical (mild versus moderate to severe) predictors of stroke. Extended Cox proportional hazard regression analysis with a time-varying covariate for daily minimum postoperative platelet count assessed the association of day-to-day variations in postoperative platelet count with time to stroke...
June 17, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28632203/combined-assessment-of-dyrk1a-bdnf-and-homocysteine-levels-as-diagnostic-marker-for-alzheimer-s-disease
#9
N Janel, P Alexopoulos, A Badel, F Lamari, A C Camproux, J Lagarde, S Simon, C Feraudet-Tarisse, P Lamourette, M Arbones, J L Paul, B Dubois, M C Potier, M Sarazin, J M Delabar
Early identification of Alzheimer's disease (AD) risk factors would aid development of interventions to delay the onset of dementia, but current biomarkers are invasive and/or costly to assess. Validated plasma biomarkers would circumvent these challenges. We previously identified the kinase DYRK1A in plasma. To validate DYRK1A as a biomarker for AD diagnosis, we assessed the levels of DYRK1A and the related markers brain-derived neurotrophic factor (BDNF) and homocysteine in two unrelated AD patient cohorts with age-matched controls...
June 20, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28631168/the-function-of-osbhlh068-is-partially-redundant-with-its-homolog-atbhlh112-in-the-regulation-of-the-salt-stress-response-but-has-opposite-functions-to-control-flowering-in-arabidopsis
#10
Hung-Chi Chen, Vicki Hsieh-Feng, Pei-Chun Liao, Wan-Hsing Cheng, Li-Yu Liu, Yun-Wei Yang, Ming-Hsin Lai, Men-Chi Chang
The homologous genes OsbHLH068 and AtbHLH112 have partially redundant functions in the regulation of the salt stress response but opposite functions to control flowering in Arabidopsis. The transcription factor (TF) basic/Helix-Loop-Helix (bHLH) is important for plant growth, development, and stress responses. OsbHLH068, which is a homologous gene of AtbHLH112 that is up-regulated under drought and salt stresses, as indicated by previous microarray data analysis. However, the intrinsic function of OsbHLH068 remains unknown...
June 19, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#11
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28630973/consort-statement-for-randomized-trials-of-nonpharmacologic-treatments-a-2017-update-and-a-consort-extension-for-nonpharmacologic-trial-abstracts
#12
Isabelle Boutron, Douglas G Altman, David Moher, Kenneth F Schulz, Philippe Ravaud
Incomplete and inadequate reporting is an avoidable waste that reduces the usefulness of research. The CONSORT (Consolidated Standards of Reporting Trials) Statement is an evidence-based reporting guideline that aims to improve research transparency and reduce waste. In 2008, the CONSORT Group developed an extension to the original statement that addressed methodological issues specific to trials of nonpharmacologic treatments (NPTs), such as surgery, rehabilitation, or psychotherapy. This article describes an update of that extension and presents an extension for reporting abstracts of NPT trials...
June 20, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28630940/fluconazole-induced-ploidy-change-in-cryptococcus-neoformans-results-from-the-uncoupling-of-cell-growth-and-nuclear-division
#13
Sophie Altamirano, Diana Fang, Charles Simmons, Shreyas Sridhar, Peipei Wu, Kaustuv Sanyal, Lukasz Kozubowski
Cryptococcus neoformans is a pathogenic yeast that causes lethal cryptococcal meningitis in immunocompromised patients. One of the challenges in treating cryptococcosis is the development of resistance to azole antifungals. Previous studies linked azole resistance to elevated numbers of copies of critical resistance genes in aneuploid cells. However, how aneuploidy is formed in the presence of azole drugs remains unclear. This study showed that treatment with inhibitory concentrations of an azole drug, fluconazole (FLC), resulted in a significant population of cells with increased DNA content, through the following defects: inhibition of budding, premature mitosis, and inhibition of cytokinesis followed by replication in the mother cell...
May 2017: MSphere
https://www.readbyqxmd.com/read/28630763/malignant-tumours-of-the-foot-and-ankle
#14
E Mascard, N Gaspar, L Brugières, C Glorion, S Pannier, A Gomez-Brouchet
Most of tumours of the foot are tumour-like (synovial cyst, foreign body reactions and epidermal inclusion cyst) or benign conditions (tenosynovial giant cells tumours, planta fibromatosis). Malignant tumours of the soft-tissue and skeleton are very rare in the foot and their diagnosis is often delayed with referral to specialised teams after initial inappropriate procedures or unplanned excisions. The adverse effect of these misdiagnosed tumours is the increasing rate of amputation or local recurrences in the involved patients...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28630655/neural-patterns-elicited-by-sentence-processing-uniquely-characterize-typical-development-sli-recovery-and-sli-persistence
#15
Eileen Haebig, Christine Weber, Laurence B Leonard, Patricia Deevy, J Bruce Tomblin
BACKGROUND: A substantial amount of work has examined language abilities in young children with specific language impairment (SLI); however, our understanding of the developmental trajectory of language impairment is limited. Along with studying the behavioral changes that occur across development, it is important to examine the neural indices of language processing for children with different language trajectories. The current study sought to examine behavioral and neural bases of language processing in adolescents showing three different trajectories: those with normal language development (NL), those exhibiting persistent SLI (SLI-Persistent), and those with a history of SLI who appear to have recovered (SLI-Recovered)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28630454/treatment-with-a-non-toxic-self-replicating-anti-prion-delays-or-prevents-prion-disease-in-vivo
#16
R Diaz-Espinoza, R Morales, L Concha-Marambio, I Moreno-Gonzalez, F Moda, C Soto
Transmissible spongiform encephalopathies (TSEs) are fatal neurological disorders caused by prions, which are composed of a misfolded protein (PrP(Sc)) that self-propagates in the brain of infected individuals by converting the normal prion protein (PrP(C)) into the pathological isoform. Here, we report a novel experimental strategy for preventing prion disease based on producing a self-replicating, but innocuous PrP(Sc)-like form, termed anti-prion, which can compete with the replication of pathogenic prions...
June 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28630121/a-novel-recombinant-human-thrombopoietin-therapy-for-the-management-of-immune-thrombocytopenia-in-pregnancy
#17
Zhangyuan Kong, Ping Qin, Shan Xiao, Hai Zhou, Hong Li, Renchi Yang, Xiaofan Liu, Jianmin Luo, Zhichun Li, Guochao Ji, Zhongguang Cui, Yusheng Bai, Yuxia Wu, Linlin Shao, Jun Peng, Jun Ma, Ming Hou
The aim of this study was to determine the safety and efficacy of recombinant human thrombopoietin (rhTPO) for the management of immune thrombocytopenia (ITP) during pregnancy. Pregnant ITP patients were enrolled in the study if they had a platelet count of < 30 × 10(9)/L, were experiencing bleeding manifestations, had failed to respond to corticosteroids and/or intravenous immunoglobulin (IVIG), and had developed refractoriness to platelet transfusion. Thirty-one patients received rhTPO at an initial dose of 300U/kg once daily for 14 days...
June 19, 2017: Blood
https://www.readbyqxmd.com/read/28629320/transcriptomic-changes-reveal-gene-networks-responding-to-the-overexpression-of-a-blueberry-dwarf-and-delayed-flowering-1-gene-in-transgenic-blueberry-plants
#18
Guo-Qing Song, Xuan Gao
BACKGROUND: Constitutive expression of the CBF/DREB1 for increasing freezing tolerance in woody plants is often associated with other phenotypic changes including dwarf plant and delayed flowering. These phenotypic changes have been observed when Arabidopsis DWARF AND DELAYED FLOWERING 1 (DDF1) was overexpressed in A. thaliana plants. To date, the DDF1 orthologues have not been studied in woody plants. The aim of this study is to investigate transcriptomic responses to the overexpression of blueberry (Vaccinium corymbosum) DDF1 (herein, VcDDF1-OX)...
June 19, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28629216/amphiphilic-antifogging-anti-icing-coatings-containing-poss-pdmaema-b-psbma
#19
Chuan Li, Xiaohui Li, Chao Tao, Lixia Ren, Yunhui Zhao, Shan Bai, Xiaoyan Yuan
Highly transparent antifogging/anti-icing coatings were developed from amphiphilic block copolymers of polyhedral oligomeric silsesquioxane-poly[2-(dimethylamino)ethyl methacrylate]-block-poly(sulfobetaine methacrylate) (POSS-PDMAEMA-b-PSBMA) with a small amount of ethylene glycol dimethacrylate (EGDMA) via UV-curing. The excellent antifogging properties of the prepared coatings were originated from the hygroscopicity of both PDMAEMA and PSBMA blocks in the semi-interpenetrating polymer network (SIPN) with polymerization of EGDMA, and the hydrophobic POSS aggregated on the surface...
June 20, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28628668/dose-dependent-effects-of-gamma-radiation-on-the-early-zebrafish-development-and-gene-expression
#20
Selma Hurem, Leonardo Martín Martín, Dag Anders Brede, Eystein Skjerve, Rasoul Nourizadeh-Lillabadi, Ole Christian Lind, Terje Christensen, Vidar Berg, Hans-Christian Teien, Brit Salbu, Deborah Helen Oughton, Peter Aleström, Jan Ludvig Lyche
Ionizing radiation from natural sources or anthropogenic activity has the potential to cause oxidative stress or genetic damage in living organisms, through the ionization and excitation of molecules and the subsequent production of free radicals and reactive oxygen species (ROS). The present work focuses on radiation-induced biological effects using the zebrafish (Danio rerio) vertebrate model. Changes in developmental traits and gene expression in zebrafish were assessed after continuous external gamma irradiation (0...
2017: PloS One
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