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https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#1
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28640725/from-staff-nurse-to-nurse-consultant
#2
John Fowler
John Fowler, educational consultant and part-time university chaplain, examines the role of clinically based nurses in caring for the spiritual needs of patients who are Buddhists.
June 22, 2017: British Journal of Nursing: BJN
https://www.readbyqxmd.com/read/28636646/variation-in-hunting-behaviour-in-neighbouring-chimpanzee-communities-in-the-budongo-forest-uganda
#3
Catherine Hobaiter, Liran Samuni, Caroline Mullins, Walter John Akankwasa, Klaus Zuberbühler
Hunting and sharing of meat is seen across all chimpanzee sites, with variation in prey preferences, hunting techniques, frequencies, and success rates. Here, we compared hunting and meat-eating behaviour in two adjacent chimpanzee communities (Pan troglodytes schweinfurthii) of Budongo Forest, Uganda: the Waibira and Sonso communities. We observed consistent between-group differences in prey-species preferences and in post-hunting behaviour. Sonso chimpanzees show a strong prey preference for Guereza colobus monkeys (Colobus guereza occidentalis; 74...
2017: PloS One
https://www.readbyqxmd.com/read/28636525/prognostic-significance-of-improvement-in-right-ventricular-systolic-function-during-cardiac-resynchronization-therapy
#4
Frederik Helsen, Alexander Van De Bruaene, Charlien Gabriels, Mathias Claeys, Els Troost, Gábor Vörös, Rik Willems, Jens-Uwe Voigt, Werner Budts
Objectives There is conflicting evidence concerning the role of right ventricular (RV) systolic dysfunction in the long-term clinical outcome after cardiac resynchronization therapy (CRT). Therefore we aimed to assess evolution of RV systolic function during CRT, covariates associated with its improvement, and its impact on outcome. Methods and results All CRT device implantations (Jan 2009-Dec 2011) in our institution were reviewed. Records of 69 patients (25% female, mean age 62.8 ± 9.2 years, mean left ventricular (LV) ejection fraction 27 ± 8%) were analyzed...
March 31, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28635909/-chronic-obstructive-pulmonary-disease-concurrent-with-metabolic-syndrome-pathophysiological-and-clinical-features
#5
A V Budnevsky, E S Ovsyannikov, N B Labzhania
Chronic obstructive pulmonary disease (COPD) still remains a serious public health problem, which is a common cause of disability and death in the able-bodied population. Furthermore, the number of patients with metabolic syndrome (MS) is steadily increasing worldwide. Recently, there is also an increase in the number of patients with COPD concurrent with MS, which is a mutually confounding risk factor for concomitant cardiovascular disease and adversely affects prognosis in these patients. Systemic subclinical inflammation is a common link between COPD and the components of MS...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28635671/rab33b-controls-hepatitis-b-virus-assembly-by-regulating-core-membrane-association-and-nucleocapsid-processing
#6
Christina Bartusch, Tatjana Döring, Reinhild Prange
Many viruses take advantage of cellular trafficking machineries to assemble and release new infectious particles. Using RNA interference (RNAi), we demonstrate that the Golgi/autophagosome-associated Rab33B is required for hepatitis B virus (HBV) propagation in hepatoma cell lines. While Rab33B is dispensable for the secretion of HBV subviral envelope particles, its knockdown reduced the virus yield to 20% and inhibited nucleocapsid (NC) formation and/or NC trafficking. The overexpression of a GDP-restricted Rab33B mutant phenocopied the effect of deficit Rab33B, indicating that Rab33B-specific effector proteins may be involved...
June 21, 2017: Viruses
https://www.readbyqxmd.com/read/28635583/cigarette-smoke-is-associated-with-altered-expression-of-antioxidant-enzymes-in-granulosa-cells-from-women-undergoing-in-vitro-fertilization
#7
Maria Cristina Budani, Erminia Carletti, Gian Mario Tiboni
This study was undertaken to evaluate whether cigarette smoke is associated with changes in the expression of antioxidant enzymes in granulosa cells of women undergoing IVF treatments. For this aim, the expression of three antioxidant enzymes (SOD1, SOD2 and catalase) in non-smokers (n = 20) and smokers (n = 20) was analyzed. There was a statistically significant overexpression of SOD2 and catalase mRNA levels in smokers in comparison with non-smokers. Cigarette smoking was associated with a lower fertilization rate, implantation rate and pregnancy rate in comparison with non-smokers...
June 21, 2017: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/28635218/-nasal-irrigation-for-the-treatment-of-vasomotor-rhinitis-a-pilot-study
#8
L Lin, Q Lu, X Y Tang, F Dai, J J Wei
Objective: To observe the therapeutic effect of simple 3.0% saline nasal irrigation and combined treatment of 3.0% saline nasal irrigation and budesonide nasal spray for vasomotor rhinitis (VMR), and explore the long-term effect for VMR. Through examination of levels of substance P (SP) and mucin (MUC)5B in nasal lavage fluid, the mechanisms of nasal irrigation treatment for VMR was discussed. Methods: One hundred and one patients from Department of Otorhinolaryngology Head and Neck Surgery, Huashan Hospital of Fudan University with VMR were randomly divided into 4 groups...
June 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28634818/sg2na-is-a-regulator-of-endoplasmic-reticulum-er-homeostasis-as-its-depletion-leads-to-er-stress
#9
Buddhi Prakash Jain, Shweta Pandey, Nikhat Saleem, Goutam K Tanti, Shalini Mishra, Shyamal K Goswami
SG2NA belongs to a three-member striatin subfamily of WD40 repeat superfamily of proteins. It has multiple protein-protein interaction domains involved in assembling supramolecular signaling complexes. Earlier, we had demonstrated that there are at least five variants of SG2NA generated by alternative splicing, intron retention, and RNA editing. Such versatile and dynamic mode of regulation implicates it in tissue development. In order to shed light on its role in cell physiology, total proteome analysis was performed in NIH3T3 cells depleted of 78 kDa SG2NA, the only isoform expressing therein...
June 21, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/28634719/a-sugarcane-pathogenesis-related-protein-scpr10-plays-a-positive-role-in-defense-responses-under-sporisorium-scitamineum-srmv-sa-and-meja-stresses
#10
Qiong Peng, Yachun Su, Hui Ling, Waqar Ahmad, Shiwu Gao, Jinlong Guo, Youxiong Que, Liping Xu
A pathogenesis-related gene, ScPR10 , was isolated from sugarcane and its bio-function was characterized, demonstrating that ScPR10 was involved in plant defense responses to Sporisorium scitamineum , SrMV, SA, and MeJA stresses. Plant fungal and viral diseases are the major concerns in sugarcane industry. Many anti-fungal and antivirus components, including pathogenesis-related (PR) proteins, have been identified. The pathogenesis-related protein 10 (PR10) is the dominant group in PR families, involved in the plant defense mechanism...
June 20, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/28634668/black-and-white-snub-nosed-monkey-rhinopithecus-bieti-feeding-behavior-in-a-degraded-forest-fragment-clues-to-a-stressed-population
#11
Zhi-Pang Huang, Matthew B Scott, Yan-Peng Li, Guo-Peng Ren, Zuo-Fu Xiang, Liang-Wei Cui, Wen Xiao
Rapid global deforestation has forced many of the world's primates to live in fragmented habitats, making the understanding of their behavioral responses to degraded and fragmented habitats a key challenge for their future protection and management. The black-and-white snub-nosed monkey (Rhinopithecus bieti) is an endangered species endemic to southwest China. The forest habitat ranges from near-continuous to fragmented. In this study, we investigated the activity budget and diet of a R. bieti population that live in an isolated and degraded habitat patch at Mt...
June 20, 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28634658/the-utci-and-the-isb
#12
Gerd Jendritzky, Peter Höppe
Thermal effects of the environment are the most prominent environmental influences on the human body. Keeping the body core temperature in a narrow optimum range is the dominating physiological process. Thus, assessing thermal environments has been a major field in biometeorology for many decades, which is also reflected in the number of respective articles and their citations. In the early days of thermal assessments, simple indices only considering a few environmental parameters were used. The next step has been the development of heat budget models describing all relevant heat/energy fluxes to and from the human body...
June 20, 2017: International Journal of Biometeorology
https://www.readbyqxmd.com/read/28634398/mutations-in-human-aid-differentially-affect-its-ability-to-deaminate-cytidine-and-5-methylcytidine-in-ssdna-substrates-in-vitro
#13
Lucyna Budzko, Paulina Jackowiak, Karol Kamel, Joanna Sarzynska, Janusz M Bujnicki, Marek Figlerowicz
Activation-induced cytidine deaminase (AID) is known for its established role in antibody production. AID induces the diversification of antibodies by deaminating deoxycytidine (C) within immunoglobulin genes. The capacity of AID to deaminate 5-methyldeoxycytidine (5 mC) and/or 5-hydroxymethyldeoxycytidine (5 hmC), and consequently AID involvement in active DNA demethylation, is not fully resolved. For instance, structural determinants of AID activity on different substrates remain to be identified. To better understand the latter issue, we tested how mutations in human AID (hAID) influence its ability to deaminate C, 5 mC, and 5 hmC in vitro...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28634218/high-quality-statin-trials-support-the-2013-acc-aha-cholesterol-guidelines-after-hope-3-the-multi-ethnic-study-of-atherosclerosis
#14
Martin B Mortensen, Matthew J Budoff, Dong Li, Khurram Nasir, Michael J Blaha, Veit Sandfort, Carlos J Rodriguez, Pamela Ouyang, Erling Falk
The 2013 American College of Cardiology/American Heart Association (ACC/AHA) guideline on cholesterol treatment to prevent atherosclerotic cardiovascular disease (ASCVD) has been criticized for lowering the risk thresholds for primary prevention with statin therapy. Although the ≥ 7.5% (class I) and ≥ 5% (class IIa) 10-year ASCVD risk thresholds were identified as new indications for treatment by extrapolating results obtained in randomized controlled trials (RCT) of statin therapy, results from population-based European cohorts indicate that >30% of individuals eligible for statin therapy by class I recommendations do not have RCT data supporting statin efficacy...
June 20, 2017: Circulation
https://www.readbyqxmd.com/read/28633526/reduced-graphene-oxide-poly-acrylic-acid-aerogels-as-a-three-dimensional-replacement-for-metal-foil-current-collectors-in-lithium-ion-batteries
#15
Han Xiao, Joshua P Pender, Mackenzie Meece-Rayle, J Pedro de Souza, Kyle C Klavetter, Heonjoo Ha, Jie Lin, Adam Heller, Christopher J Ellison, Charles Buddie Mullins
We report the synthesis and properties of a low-density (~5 mg/cm3) and highly-porous (99.6% void space) three-dimensional reduced graphene oxide (rGO)/poly(acrylic acid) (PAA) nanocomposite aerogel as the scaffold for cathode materials in lithium-ion batteries (LIBs). The rGO-PAA is both simple and starts from readily-available graphite and PAA thereby providing a scalable fabrication procedure. The scaffold can support as much as a 75 mg/cm2 loading of LiFePO4 (LFP) in a ~ 430 µm thick layer, and the porosity of the aerogel is tunable by compression; the flexible aerogel can be compressed 30-fold (i...
June 20, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28633409/the-effect-of-pd-l1-testing-on-the-cost-effectiveness-and-economic-impact-of-immune-checkpoint-inhibitors-for-the-second-line-treatment-of-nsclc
#16
P N Aguiar, L Perry, J Penny-Dimr, H Babiker, H Tadokoro, R A de Mello, G L Lopes
Background: Immune checkpoint inhibitors improve outcomes compared to chemotherapy in lung cancer. Tumor PD-L1 receptor expression is being studied as a predictive biomarker. The objective of this study was to assess the cost-effectiveness and economic impact of second-line treatment with nivolumab, pembrolizumab, and atezolizumab with and without the use of PD-L1 testing for patient selection. Design: We developed a decision-analytic model to determine the cost-effectiveness of PD-L1 assessment and second-line immunotherapy versus docetaxel...
June 15, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28633337/differences-in-below-ground-bud-bank-density-and-composition-along-a-climatic-gradient-in-the-temperate-steppe-of-northern-china
#17
Jianqiang Qian, Zhengwen Wang, Jitka Klimešová, Xiaotao Lü, Wennong Kuang, Zhimin Liu, Xingguo Han
Background and Aims: Understanding the changes in below-ground bud bank density and composition along a climatic gradient is essential for the exploration of species distribution pattern and vegetation composition in response to climatic changes. Nevertheless, investigations on bud banks along climatic gradients are still scarce. The below-ground bud bank is expected to be reduced in size in arid conditions, and costly, bud-bearing organs with long spacers would be replaced by more compact forms with buds that are better protected than those found in moist conditions...
June 14, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28633027/cell-size-fat-makes-cells-fat
#18
Lisa Willis, Kerwyn Casey Huang
Nutrients are required for the multiple biosynthetic pathways that result in cell growth, and faster growth due to increased nutrient supply results in larger cell volume. A new study demonstrates that fatty-acid availability limits growth rate and cell envelope capacity, revealing that fatty-acid synthesis is the primary determinant of cell size in bacteria and in budding yeast.
June 19, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28632862/changes-in-coronary-artery-plaque-with-testosterone-therapy-reply
#19
Matthew J Budoff, Susan S Ellenberg, Peter J Snyder
No abstract text is available yet for this article.
June 20, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28632827/-occult-bacteremia-in-s%C3%A3-tero-del-r%C3%A3-o-hospital-experience-after-pneumococcal-conjugated-vaccine
#20
Isolda Budnik, Alejandra Sandoval, Alejandra Prado, Marcela Labbé, Anamaría Peña, Tamara Viviani
BACKGROUND: Occult bacteremia (OB) is one of the possible diagnoses of children younger than 3 years with fever without source in the emergency room. OBJECTIVE: describe OB in the era after introduction of pneumococcal vaccine in Chile. PATIENTS AND METHODS: Prospective descriptive review of data of children with possible OB diagnosis, referred from the emergency department between 2010-2013. RESULTS: Possible OB was diagnosed on 391 patients...
April 2017: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
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