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https://www.readbyqxmd.com/read/29054076/genetic-polymorphisms-in-angiogenesis-related-genes-are-associated-with-worse-progression-free-survival-of-patients-with-advanced-gastrointestinal-stromal-tumours-treated-with-imatinib
#1
Michiel C Verboom, Jacqueline S L Kloth, Jesse J Swen, Tahar van der Straaten, Judith V M G Bovée, Stefan Sleijfer, Anna K L Reyners, Ron H J Mathijssen, Henk-Jan Guchelaar, Neeltje Steeghs, Hans Gelderblom
BACKGROUND: Imatinib 400 mg per day is first-line therapy for patients with gastrointestinal stromal tumours (GISTs). Although clinical benefit is high, progression-free survival (PFS) is variable. This study explores the relationship of single nucleotide polymorphisms (SNPs) in genes related to imatinib pharmacokinetics and pharmacodynamics and PFS in imatinib-treated patients with advanced GIST. METHODS: In 227 patients a pharmacogenetic pathway analysis was performed...
October 17, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29053892/ultra-fast-molecular-rotors-within-porous-organic-cages
#2
Ashlea R Hughes, Nick J Brownbill, Rachel C Lalek, Michael E Briggs, Anna G Slater, Andrew I Cooper, Frederic Blanc
Using variable temperature 2H static NMR spectra and 13C spin-lattice relaxation times (T1), we show that two different porous organic cages with tubular architectures are ultra-fast molecular rotors. The central para-phenylene rings that frame the 'windows' to the cage voids display very rapid rotational rates of the order of 1.2-8 x106 Hz at 230 K with low activation energy barriers in the 12-18 kJ mol-1 range. These cages act as hosts to iodine guest molecules, which dramatically slows down the rotational rates of the phenylene groups (5- 10 x104 Hz at 230 K), demonstrating potential use in applications that require molecular capture and release...
October 20, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29053860/clinicopathological-correlations-in-behavioural-variant-frontotemporal-dementia
#3
David C Perry, Jesse A Brown, Katherine L Possin, Samir Datta, Andrew Trujillo, Anneliese Radke, Anna Karydas, John Kornak, Ana C Sias, Gil D Rabinovici, Maria Luisa Gorno-Tempini, Adam L Boxer, Mary De May, Katherine P Rankin, Virginia E Sturm, Suzee E Lee, Brandy R Matthews, Aimee W Kao, Keith A Vossel, Maria Carmela Tartaglia, Zachary A Miller, Sang Won Seo, Manu Sidhu, Stephanie E Gaus, Alissa L Nana, Jose Norberto S Vargas, Ji-Hye L Hwang, Rik Ossenkoppele, Alainna B Brown, Eric J Huang, Giovanni Coppola, Howard J Rosen, Daniel Geschwind, John Q Trojanowski, Lea T Grinberg, Joel H Kramer, Bruce L Miller, William W Seeley
Accurately predicting the underlying neuropathological diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting challenge for clinicians but will be critical for the success of disease-modifying therapies. We sought to improve pathological prediction by exploring clinicopathological correlations in a large bvFTD cohort. Among 438 patients in whom bvFTD was either the top or an alternative possible clinical diagnosis, 117 had available autopsy data, including 98 with a primary pathological diagnosis of frontotemporal lobar degeneration (FTLD), 15 with Alzheimer's disease, and four with amyotrophic lateral sclerosis who lacked neurodegenerative disease-related pathology outside of the motor system...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053796/exome-sequencing-and-network-analysis-identifies-shared-mechanisms-underlying-spinocerebellar-ataxia
#4
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbeek
The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053786/tau-hyperphosphorylation-induces-oligomeric-insulin-accumulation-and-insulin-resistance-in-neurons
#5
Patricia Rodriguez-Rodriguez, Anna Sandebring-Matton, Paula Merino-Serrais, Cristina Parrado-Fernandez, Alberto Rabano, Bengt Winblad, Jesús Ávila, Isidre Ferrer, Angel Cedazo-Minguez
Insulin signalling deficiencies and insulin resistance have been directly linked to the progression of neurodegenerative disorders like Alzheimer's disease. However, to date little is known about the underlying molecular mechanisms or insulin state and distribution in the brain under pathological conditions. Here, we report that insulin is accumulated and retained as oligomers in hyperphosphorylated tau-bearing neurons in Alzheimer's disease and in several of the most prevalent human tauopathies. The intraneuronal accumulation of insulin is directly dependent on tau hyperphosphorylation, and follows the tauopathy progression...
October 13, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053671/cell-free-biochemical-fluorometric-enzymatic-assay-for-high-throughput-measurement-of-lipid-peroxidation-in-high-density-lipoprotein
#6
Shubhendu Sen Roy, Huy Cong Xuan Nguyen, Thomas A Angelovich, Anna C Hearps, Diana Huynh, Anthony Jaworowski, Theodoros Kelesidis
Low high-density lipoprotein cholesterol (HDL-C) levels are one of the most powerful independent negative predictors of atherosclerotic cardiovascular disease (CVD). The structure and function of HDL rather than HDL-C may more accurately predict atherosclerosis. Several HDL protein and lipid compositional changes that impair HDL function occur in inflammatory states such as atherosclerosis. HDL function is usually determined by cell based assays such as cholesterol efflux assay but these assays have numerous drawbacks lack of standardization...
October 12, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29053628/antioxidant-defence-oxidative-stress-and-oxidative-damage-in-saliva-plasma-and-erythrocytes-of-dementia-patients-can-salivary-age-be-a-marker-of-dementia
#7
Magdalena Choromańska, Anna Klimiuk, Paula Kostecka-Sochoń, Karolina Wilczyńska, Mikołaj Kwiatkowski, Natalia Okuniewska, Napoleon Waszkiewicz, Anna Zalewska, Mateusz Maciejczyk
Oxidative stress plays a crucial role in dementia pathogenesis; however, its impact on salivary secretion and salivary qualities is still unknown. This study included 80 patients with moderate dementia and 80 healthy age- and sex-matched individuals. Salivary flow, antioxidants (salivary peroxidase, catalase, superoxide dismutase, uric acid and total antioxidant capacity), and oxidative damage products (advanced oxidation protein products, advanced glycation end products (AGE), 8-isoprostanes, 8-hydroxy-2'-deoxyguanosine and total oxidant status) were estimated in non-stimulated and stimulated saliva, as well as in plasma and erythrocytes...
October 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29053611/glucosylsphingosine-causes-hematological-and-visceral-changes-in-mice-evidence-for-a-pathophysiological-role-in-gaucher-disease
#8
Jan Lukas, Claudia Cozma, Fan Yang, Guido Kramp, Anja Meyer, Anna-Maria Neßlauer, Sabrina Eichler, Tobias Böttcher, Martin Witt, Anja U Bräuer, Peter Kropp, Arndt Rolfs
Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The build-up of glucosylceramide in the endoplasmic reticulum and prominent accumulation in cell lysosomes of tissue macrophages results in decreased blood cell and platelet counts, and skeletal abnormalities. The pathological role of the deacylated form of glucosylceramide, glucosylsphingosine (lyso-Gb1), a recently identified sensitive and specific biomarker for GD, is not well investigated...
October 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29053579/stem-cells-as-potential-candidates-for-psoriasis-cell-replacement-therapy
#9
REVIEW
Agnieszka Owczarczyk-Saczonek, Magdalena Krajewska-Włodarczyk, Anna Kruszewska, Waldemar Placek, Wojciech Maksymowicz, Joanna Wojtkiewicz
Recent years have seen considerable progress in explaining the mechanisms of the pathogenesis of psoriasis, with a significant role played in it by the hyper-reactivity of Th1 and Th17 cells, Treg function disorder, as well as complex relationships between immune cells, keratinocytes, and vascular endothelium. The effect of stem cells in the epidermis and stem cells on T cells has been identified and the dysfunction of various types of stem cells may be a prime cause of dysregulation of the inflammatory response in psoriasis...
October 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29053571/chromosome-synapsis-and-recombination-in-male-hybrids-between-two-chromosome-races-of-the-common-shrew-sorex-araneus-l-soricidae-eulipotyphla
#10
Nadezhda M Belonogova, Andrei V Polyakov, Tatyana V Karamysheva, Anna A Torgasheva, Jeremy B Searle, Pavel M Borodin
Hybrid zones between chromosome races of the common shrew (Sorex araneus) provide exceptional models to study the potential role of chromosome rearrangements in the initial steps of speciation. The Novosibirsk and Tomsk races differ by a series of Robertsonian fusions with monobrachial homology. They form a narrow hybrid zone and generate hybrids with both simple (chain of three chromosomes) and complex (chain of eight or nine) synaptic configurations. Using immunolocalisation of the meiotic proteins, we examined chromosome pairing and recombination in males from the hybrid zone...
October 20, 2017: Genes
https://www.readbyqxmd.com/read/29053439/factors-influencing-indonesian-women-s-use-of-maternal-health-care-services
#11
Anna Kurniati, Ching-Min Chen, Ferry Efendi, Sarni Maniar Berliana
Employing the 2012 Indonesia Demographic and Health Survey data, we aimed to examine factors influencing married women to use maternity services. Data of married women who had given birth in the last five years before the survey were included in the analysis (n = 14,672). Factors of education, employment, women's age at first marriage, age at first birth, spousal education difference, contraceptive use, place of residence, and woman's attitude toward wife beating were associated with the use of antenatal care, institutional delivery, and postnatal care services...
October 20, 2017: Health Care for Women International
https://www.readbyqxmd.com/read/29052866/runx-mediated-growth-arrest-and-senescence-are-attenuated-by-diverse-mechanisms-in-cells-expressing-runx1-fusion-oncoproteins
#12
Gail Anderson, Nancy Mackay, Kathryn Gilroy, Jodie Hay, Gillian Borland, Alma McDonald, Margaret Bell, Siti Ayuni Hassanudin, Ewan Cameron, James C Neil, Anna Kilbey
RUNX gene over-expression inhibits growth of primary cells but transforms cells with tumor suppressor defects, consistent with reported associations with tumor progression. In contrast, chromosomal translocations involving RUNX1 are detectable in utero, suggesting an initiating role in leukemias. How do cells expressing RUNX1 fusion oncoproteins evade RUNX-mediated growth suppression? Previous studies showed that the TEL-RUNX1 fusion from t(12;21) B-ALLs is unable to induce senescence-like growth arrest (SLGA) in primary fibroblasts while potent activity is displayed by the RUNX1-ETO fusion found in t(8;21) AMLs...
October 20, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29052652/types-of-work-related-behavior-and-experiences-and-stress-coping-strategies-among-single-mothers-and-mothers-in-relationships-differentiating-role-of-work-satisfaction
#13
Elżbieta Napora, Anna Andruszkiewicz, Małgorzata Anna Basińska
OBJECTIVES: The purpose of the study has been to describe functioning of single and mothers in relationships (married or in informal relationships) at work and verify if the declared degree of work satisfaction differentiates types of behavior at work and stress coping strategies in both groups of mothers. MATERIAL AND METHODS: The study was conducted on equal samples of single mothers (N = 186) and mothers from 2-parent families (N = 186) using Latack Coping Scale that measures work-related stress coping strategies, the AVEM (Arbeitsbezogenes Verhaltens- und Erlebensmuster - Work-Related Behavior and Experience Pattern) questionnaire, and a survey...
October 18, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/29052596/t-6-11-renal-cell-carcinoma-a-study-of-seven-cases-including-two-with-aggressive-behavior-and-utility-of-cd68-pg-m1-in-the-differential-diagnosis-with-pure-epithelioid-pecoma-epithelioid-angiomyolipoma
#14
Anna Caliò, Matteo Brunelli, Diego Segala, Serena Pedron, Regina Tardanico, Andrea Remo, Stefano Gobbo, Emanuela Meneghelli, Claudio Doglioni, Ondrej Hes, Claudia Zampini, Pedram Argani, Guido Martignoni
Renal cell carcinomas with t(6;11) chromosome translocation involving the TFEB gene are indolent neoplasms which often occur in young patients. In this study, we report seven cases of renal cell carcinoma with TFEB rearrangement, two of whom had histologically proven metastasis. Patients (4F, 3M) ranged in age from 19 to 55 years (mean 37). One patient developed paratracheal and pleural metastases 24 months after surgery and died of disease after 46 months; another one recurred with neoplastic nodules in the perinephric fat and pelvic soft tissue...
October 20, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29052540/emergence-of-bordetella-holmesii-as-a-causative-agent-of-whooping-cough-barcelona-spain
#15
Alba Mir-Cros, Gema Codina, M Teresa Martín-Gómez, Anna Fàbrega, Xavier Martínez, Mireia Jané, Diego Van Esso, Thais Cornejo, Carlos Rodrigo, Magda Campins, Tomàs Pumarola, Juan José González-López
We describe the detection of Bordetella holmesii as a cause of whooping cough in Spain. Prevalence was 3.9% in 2015, doubling to 8.8% in 2016. This emergence raises concern regarding the contribution of B. holmesii to the reemergence of whooping cough and the effectiveness of the pertussis vaccine.
November 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29052532/stereotactic-body-radiation-therapy-sbrt-for-definitive-treatment-and-as-a-bridge-to-liver-transplantation-in-early-stage-inoperable-hepatocellular-carcinoma
#16
Assaf Moore, Michal Cohen-Naftaly, Anna Tobar, Yulia Kundel, Ofer Benjaminov, Marius Braun, Assaf Issachar, Eytan Mor, Michal Sarfaty, Dimitri Bragilovski, Ran Ben Hur, Noa Gordon, Salomon M Stemmer, Aaron M Allen
BACKGROUND AND PURPOSE: Stereotactic body radiotherapy (SBRT) is an emerging modality for definitive treatment of Hepatocellular carcinoma (HCC). MATERIALS AND METHODS: This retrospective study included all early stage HCC patients who were not candidates for primary resection and/or local therapy, treated with SBRT between 11/2011 and 1/2016. RESULTS: Twenty-three patients were included. The median age was 62 years; 70% males; 30% females; 70% viral hepatitis carriers; 100% cirrhotic; 13 Child Pugh [CP]-A and 10 [CP]-B...
October 19, 2017: Radiation Oncology
https://www.readbyqxmd.com/read/29052439/predictors-of-mortality-in-hospital-survivors-with-type-2-diabetes-mellitus-and-acute-coronary-syndromes
#17
Stefano Savonitto, Nuccia Morici, Anna Nozza, Francesco Cosentino, Pasquale Perrone Filardi, Ernesto Murena, Giorgio Morocutti, Marco Ferri, Claudio Cavallini, Marinus Jc Eijkemans, Barbara E Stähli, Ilse C Schrieks, Tadashi Toyama, H J Lambers Heerspink, Klas Malmberg, Gregory G Schwartz, A Michael Lincoff, Lars Ryden, Jean Claude Tardif, Diederick E Grobbee
AIM: To define the predictors of long-term mortality in patients with type 2 diabetes mellitus and recent acute coronary syndrome. METHODS AND RESULTS: A total of 7226 patients from a randomized trial, testing the effect on cardiovascular outcomes of the dual peroxisome proliferator-activated receptor agonist aleglitazar in patients with type 2 diabetes mellitus and recent acute coronary syndrome (AleCardio trial), were analysed. Median follow-up was 2 years. The independent mortality predictors were defined using Cox regression analysis...
October 1, 2017: Diabetes & Vascular Disease Research
https://www.readbyqxmd.com/read/29052435/high-overall-cardiovascular-risk-and-mortality-in-patients-with-atrial-fibrillation-and-diabetes-a-nationwide-report
#18
Stelios Karayiannides, Pia Lundman, Leif Friberg, Anna Norhammar
AIM: To describe nationwide complication patterns in patients with atrial fibrillation and diabetes mellitus. METHODS: All ( n = 326,832) patients in Sweden with non-valvular atrial fibrillation during 2006-2012 were identified, and information on events, comorbidities and pharmacological therapy was extracted using nationwide mandatory registers. Patients were followed until 31 December 2013 and the mean follow-up time was 3.7 years (0.9-8 years). RESULTS: Diabetes was present in 17...
October 1, 2017: Diabetes & Vascular Disease Research
https://www.readbyqxmd.com/read/29052223/identification-of-four-novel-rhd-alleles-by-weakened-antigen-d-expression
#19
Helene Polin, Melanie Brisner, Anna Reiter, Martin Danzer
No abstract text is available yet for this article.
October 20, 2017: Transfusion
https://www.readbyqxmd.com/read/29052107/aspects-of-morality-and-law-enforcement-in-today-s-science-in-post-soviet-countries
#20
Jana Kliestikova, Tomas Kliestik, Maria Misankova, Tatiana Corejova, Anna Krizanova
Many reports independently confirm that even more than a quarter of a century after the collapse of the Soviet Union, the results of research and development in those countries that were under its influence are insufficient in comparison to the rest of the world. Given that human intelligence is not distributed unevenly and that science is a powerful driving force for the future of an economy, there is a hidden problem, which, if it can be resolved, may release great economic potential. The first generation of researchers from Armenia, Czech Republic, Georgia, Slovakia and Ukraine, who successfully completed their education after the political revolution, were surveyed...
October 20, 2017: Science and Engineering Ethics
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