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https://www.readbyqxmd.com/read/28088561/mutant-dd-genotype-of-nfkb1-gene-is-associated-with-the-susceptibility-and-severity-of-coronary-artery-disease
#1
Jun-Yi Luo, Xiao-Mei Li, Yun Zhou, Qiang Zhao, Bang-Dang Chen, Fen Liu, Xiao-Cui Chen, Hong Zheng, Yi-Tong Ma, Xiao-Ming Gao, Yi-Ning Yang
Nuclear factor κappa B (NF-κB) is an important transcription factor in the development and progression of coronary artery disease (CAD). Recent evidence suggests that -94 ATTG ins/del mutant in the promoter of NFKB1 gene is an essential functional mutant. The present study demonstrated the frequencies of the del/del (DD) genotype and del (D) allele were significantly higher in CAD patients than in controls. CAD patients carrying mutant DD genotype had worse stenosis of diseased coronary arteries compared to those carrying ins/ins (II) or ins/del (ID) genotype...
January 11, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28087174/hgdb-a-web-retrieving-cardiovascular-associated-gene-data
#2
Faezeh Noorabad-Ghahroodi, Samaneh Abdi, Amir Hossein Zand, Mohammad Najafi
BACKGROUND: The use of data obtained from high throughput techniques in genetics studies is an essential subject in biology. The system approaches of networking and enriching may improve the data management. Here, we annotated the molecular features for cardiovascular-associated genes and presented the HGDB search-based database (www.hgdb.ir). METHODS: The initial seed data was primarily used from Gene Ontology and was automatically enriched with other molecular features...
January 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28086958/biofeedback-interventions-for-people-with-cerebral-palsy-a-systematic-review-protocol
#3
Alexander MacIntosh, Nicolas Vignais, Elaine Biddiss
BACKGROUND: Cerebral palsy is a life-long disability that affects motor control and activities of daily living. Depending on the type of cerebral palsy, some individuals may have trouble performing tasks with one or both of their arms and/or legs. Different strategies exist to help develop motor capacity. Biofeedback therapy is a commonly applied rehabilitation strategy. In biofeedback therapy, information about the motor behavior while completing a task is given back to the individual to help improve their performance...
January 13, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28086754/making-the-most-of-mealtimes-m3-protocol-of-a-multi-centre-cross-sectional-study-of-food-intake-and-its-determinants-in-older-adults-living-in-long-term-care-homes
#4
Heather H Keller, Natalie Carrier, Susan Slaughter, Christina Lengyel, Catriona M Steele, Lisa Duizer, K Steve Brown, Habib Chaudhury, Minn N Yoon, Alison M Duncan, Veronique M Boscart, George Heckman, Lita Villalon
BACKGROUND: Older adults living in long term care (LTC) homes are nutritionally vulnerable, often consuming insufficient energy, macro- and micronutrients to sustain their health and function. Multiple factors are proposed to influence food intake, yet our understanding of these diverse factors and their interactions are limited. The purpose of this paper is to fully describe the protocol used to examine determinants of food and fluid intake among older adults participating in the Making the Most of Mealtimes (M3) study...
January 13, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28081369/randomized-controlled-ethanol-cookstove-intervention-and-blood-pressure-in-pregnant-nigerian-women
#5
Donee Alexander, Amanda Northcross, Nathaniel Wilson, Anindita Dutta, Rishi Pandya, Tope Ibigbami, Damilola Adu, John Olamijulo, Oludare Morhason-Bello, Theodore Karrison, Oladosu Ojengbede, Christopher O Olopade
RATIONALE: Hypertension during pregnancy is a leading cause of maternal mortality. Exposure to household air pollution (HAP) elevates blood pressure (BP). OBJECTIVES: Investigate ability of clean cookstove intervention to lower BP during pregnancy. METHODS: A randomized, controlled trial (RCT) was conducted in Nigeria. Pregnant women cooking with kerosene or firewood were randomly assigned to ethanol (n = 162) or control arms (n = 162). BP measurements were taken during 6 antenatal visits...
January 12, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28081366/an-estimation-of-hybrid-quantum-mechanical-molecular-mechanical-qm-mm-polarization-energies-for-small-molecules-using-polarizable-force-field-approaches
#6
Jing Huang, Ye Mei, Gerhard Koenig, Andrew C Simmonett, Frank C Pickard, Qin Wu, Lee-Ping Wang, Alexander D MacKerell, Bernard R Brooks, Yihan Shao
In this work, we report two polarizable molecular mechanics (polMM) force field models for estimating the polarization energy in hybrid quantum mechanical molecular mechanical (QM/MM) calculations. These two models, named the potential of atomic charges (PAC) and potential of atomic dipoles (PAD), are formulated from the ab initio quantum mechanical (QM) response kernels for the prediction of the QM density response to an external molecular mechanical (MM) environment (as described by external point charges)...
January 12, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28079501/clinical-efficacy-of-oral-alendronate-in-ankylosing-spondylitis-a-randomised-placebo-controlled-trial
#7
Lucy Coates, Jonathan C Packham, Paul Creamer, Sarah Hailwood, Ashley S Bhalla, Kuntal Chakravarty, Diamuid Mulherin, Gordon Taylor, Derek L Mattey, Ashok K Bhalla
OBJECTIVES: A prospective, double blind, randomised, placebo controlled trial over 2 years was performed to test the efficacy of alendronate, an oral aminobisphosphonate, in improving symptoms and arrest disease progression in patients with mild to severe ankylosing spondylitis (AS). METHODS: 180 patients with AS were randomised to receive weekly alendronate 70 mg or placebo (1:1 randomisation). BAS-G was the primary outcome measure with Bath indices as secondary outcomes...
January 4, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28077840/novel-gatad2b-loss-of-function-mutations-cause-intellectual-disability-in-two-unrelated-cases
#8
Xiaomei Luo, Yongyi Zou, Bo Tan, Yue Zhang, Jing Guo, Lanlan Zeng, Rui Zhang, Hu Tan, Xianda Wei, Yiqiao Hu, Yu Zheng, Desheng Liang, Lingqian Wu
GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we identified two novel heterozygous frameshift mutations of GATAD2B in two unrelated ID cases through next-generation sequencing (NGS). Both of the mutations c.80_81insGATGT and c.552_555delGAAA cause truncated proteins that might be detrimental to neurodevelopment...
January 12, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28077653/characterizing-hiv-1-splicing-using-next-generation-sequencing
#9
Ann Emery, Shuntai Zhou, Elizabeth Pollom, Ronald Swanstrom
: Full-length HIV-1 RNA serves as the genome or as an mRNA, or this RNA undergoes splicing using four donors and ten acceptors to create over 50 physiologically relevant transcripts in two size classes (1.8 kb and 4 kb). We developed an assay using Primer ID-tagged deep sequencing to quantify HIV-1 splicing. Using the NL4-3 lab strain we found that A5 (env/nef) is the most commonly used acceptor (about 50%) with A3 (tat) the least used (about 3%). Two small exons are made when a splice to acceptor A1 or A2 is followed by activation of donor D2 or D3, and the high-level use of D2 and D3 dramatically reduces the amount of vif and vpr transcripts...
January 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28074545/development-and-testing-of-a-database-of-nih-research-funding-of-aapm-members-a-report-from-aapm-working-group-for-the-development-of-a-research-database-wgdrd
#10
Brendan Whelan, Eduardo Moros, Rebecca Fahrig, James Deye, Thomas Yi, Michael Woodward, Paul Keall, Jeff Siewerdsen
PURPOSE: To produce and maintain a database of National Institutes of Health (NIH) funding of American Association of Physicists in Medicine (AAPM) members, to perform a top level analysis of this data, and to make this data (hereafter referred to as the AAPM research database) available for the use of the AAPM and its members. METHODS: NIH funded research dating back to 1985 is available for public download through the NIH exporter website, and AAPM membership information dating back to 2002 was supplied by the AAPM...
January 11, 2017: Medical Physics
https://www.readbyqxmd.com/read/28073829/dutpase-dut-is-mutated-in-a-novel-monogenic-syndrome-with-diabetes-and-bone-marrow-failure
#11
Reinaldo Sousa Dos Santos, Mathilde Daures, Anne Philippi, Sophie Romero, Lorella Marselli, Piero Marchetti, Valérie Senée, Delphine Bacq, Céline Besse, Baz Baz, Laura Marroquí, Sarah Ivanoff, Julien Masliah-Planchon, Marc Nicolino, Jean Soulier, Gérard Socié, Decio L Eizirik, Jean-François Gautier, Cécile Julier
We describe a new syndrome characterized by early onset diabetes mellitus, associated with bone marrow failure affecting mostly the erythrocytic lineage. Using whole exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (DUT) gene (NCBI Gene ID: 1854), affecting both the mitochondrial (DUT-M p.Y142C) and the nuclear (DUT-N p.Y54C) isoforms. We found the same homozygous mutation in an unrelated consanguineous patient with diabetes and bone marrow aplasia from a family with two affected siblings, while none of the >60,000 subjects from the Exome Aggregation Consortium (ExAC) was homozygous for this mutation...
January 10, 2017: Diabetes
https://www.readbyqxmd.com/read/28073042/rapid-infusions-of-human-normal-immunoglobulin-50g-l-are-safe-and-well-tolerated-in-immunodeficiencies-and-immune-thrombocytopenia
#12
Giuseppe Spadaro, Alessandra Vultaggio, A Alberto Bosi, Dietmar Reichert, Jan Janssen, Donatella Lamacchia, Liliana Nappi, Antonio Pecoraro, Cinzia Milito, Andrea Ferraro, Andrea Matucci, Francesca Bacchiarri, Valentina Carrai, Azra Hibbeler, Elisabet Speckman, Chiara Guarnieri, Serena Bongiovanni, Isabella Quinti
Intravenous immunoglobulin (IVIg) is accepted as an effective and well-tolerated treatment for primary and secondary immunodeficiencies (ID) and immune thrombocytopenia (ITP). Adverse reactions of IVIg are usually mild, comprising transient flu-like symptoms, change in blood pressure and tachycardia. However IVIg therapy can be burdensome for both patients and healthcare facilities, since the infusion may take up to 4h to administer. The objective of our multicentre, prospective, open-label phase III trial was to evaluate the tolerability and safety of human normal immunoglobulin 50g/l (Ig VENA) at high intravenous infusion rates in adult patients with ID and ITP who had previously tolerated IVIg treatment, by progressively increasing infusion rate up to 8ml/kg/hr...
January 7, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28070718/first-in-human-trial-of-an-anti-5t4-antibody-monomethylauristatin-conjugate-pf-06263507-in-patients-with-advanced-solid-tumors
#13
Geoffrey I Shapiro, Ulka N Vaishampayan, Patricia LoRusso, Jeremy Barton, Steven Hua, Steven D Reich, Ronald Shazer, Carrie T Taylor, Dawei Xuan, Hossein Borghaei
Background The antibody-drug conjugate PF-06263507 targets the cell-surface, tumor-associated antigen 5T4 and consists of a humanized IgG1 conjugated to the microtubule-disrupting agent monomethylauristatin-F by a non-cleavable maleimidocaproyl linker. In this first-in-human, dose-finding trial (NCT01891669), we evaluated safety, pharmacokinetics, and preliminary antitumor activity of PF-06263507 in pretreated patients with advanced solid tumors, unselected for 5T4 expression. starting at 0.05 mg/kg, with 25, 56, and 95% dose increments, depending on observed dose-limiting toxicities (DLTs), applying a modified continual reassessment method...
January 9, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28070539/data-on-genome-analysis-of-mycoplasmagallisepticum-during-intracellular-infection
#14
Daria Matyushkina, Olga Pobeguts, Irina Garanina, Vladislav Babenko, Maria Vakhitova, Gleb Fisunov, Vadim Govorun
The genus Mycoplasma relates to Gram-positive bacteria that lack a cell wall and are capable to cause chronic disease in humans and animals. Among the agents of infection and disease in domestic poultry and wild birds, Mycoplasma gallisepticum is the most important mycoplasma species, causing considerable losses in the poultry industry. In the present paper, we provide data on adaptation of M. gallisepticum to the eukaryotic host cells on the genomic level. The major changes were predominantly localized in the VlhA-hemagglutinin genes which are important components of pathogenesis...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28070247/effectiveness-of-cognitive-behavioral-therapy-and-fluoxetine-on-sexual-function-of-women-with-obsessive-compulsive-disorder-a-double-blind-randomized-controlled-trial
#15
Zahra Sabetnejad, Fatemeh Assarian, Abdollah Omidi, Mohammad Reza Najarzadegan
BACKGROUND: Obsessive compulsive disorder (OCD) is a mental health concern due to its various negative consequences, especially in sexual function. Therefore, the treatment of sexual dysfunction in women with OCD is important in order to improve the patient's marital function and mental health. OBJECTIVES: To compare the sexual behavior and sexual and marital satisfaction in women with obsessive-compulsive disorder (OCD) before and after treatment with fluoxetine and cognitive behavior therapy...
November 2016: Electronic Physician
https://www.readbyqxmd.com/read/28069732/weight-management-practices-associated-with-pcos-and-their-relationships-with-diet-and-physical-activity
#16
L J Moran, W J Brown, S A McNaughton, A E Joham, H J Teede
STUDY QUESTION: Do weight management practices differ in women with and without PCOS? SUMMARY ANSWER: Women in the general population with self-reported PCOS are more likely to be using healthy weight management practices and alternative non-lifestyle measures for weight management than women without PCOS. WHAT IS KNOWN ALREADY: Lifestyle management is the first-line treatment in PCOS. However, the specific weight management practices used by women with PCOS and their effect on diet and physical activity are unclear...
January 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28069669/refining-the-molecular-organization-of-the-cardiac-intercalated-disc
#17
REVIEW
Sarah H Vermij, Hugues Abriel, Toon A B van Veen
This review presents an extensively integrated model of the cardiac intercalated disc (ID), a highly orchestrated structure that connects adjacent cardiomyocytes. Classically, three main structures are distinguished: gap junctions (GJs) metabolically and electrically connect cytoplasm of adjacent cardiomyocytes; adherens junctions (AJs) connect the actin cytoskeleton of adjacent cells; and desmosomes function as cell anchors and connect intermediate filaments. Furthermore, ion channels reside in the ID. Mutations in ID proteins have been associated with cardiac arrhythmias such as Brugada syndrome and arrhythmogenic cardiomyopathy...
January 8, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28068987/effects-of-acetyl-dl-leucine-on-cerebellar-ataxia-alcat-trial-study-protocol-for-a-multicenter-multinational-randomized-double-blind-placebo-controlled-crossover-phase-iii-trial
#18
Katharina Feil, Christine Adrion, Julian Teufel, Sylvia Bösch, Jens Claassen, Ilaria Giordano, Holger Hengel, Heike Jacobi, Thomas Klockgether, Thomas Klopstock, Wolfgang Nachbauer, Ludger Schöls, Claudia Stendel, Ellen Uslar, Bart van de Warrenburg, Ingrid Berger, Ivonne Naumann, Otmar Bayer, Hans-Helge Müller, Ulrich Mansmann, Michael Strupp
BACKGROUND: Cerebellar ataxia (CA) is a frequent and often disabling condition that impairs motor functioning and impacts on quality of life (QoL). No medication has yet been proven effective for the symptomatic or even causative treatment of hereditary or non-hereditary, non-acquired CA. So far, the only treatment recommendation is physiotherapy. Therefore, new therapeutic options are needed. Based on three observational studies, the primary objective of the acetyl-DL-leucine on ataxia (ALCAT) trial is to examine the efficacy and tolerability of a symptomatic therapy with acetyl-DL-leucine compared to placebo on motor function measured by the Scale for the Assessment and Rating of Ataxia (SARA) in patients with CA...
January 10, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28068515/comparative-analysis-of-amino-acid-composition-in-the-active-site-of-nirk-gene-encoding-copper-containing-nitrite-reductase-cunir-in-bacterial-spp
#19
Utpal Kumar Adhikari, M Mizanur Rahman
The nirk gene encoding the copper-containing nitrite reductase (CuNiR), a key catalytic enzyme in the environmental denitrification process that helps to produce nitric oxide from nitrite. The molecular mechanism of denitrification process is definitely complex and in this case a theoretical investigation has been conducted to know the sequence information and amino acid composition of the active site of CuNiR enzyme using various Bioinformatics tools. 10 Fasta formatted sequences were retrieved from the NCBI database and the domain and disordered regions identification and phylogenetic analyses were done on these sequences...
December 31, 2016: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28067796/combined-effects-of-androgen-and-growth-hormone-on-osteoblast-marker-expression-in-mouse-c2c12-and-mc3t3-e1-cells-induced-by-bone-morphogenetic-protein
#20
Kosuke Kimura, Tomohiro Terasaka, Nahoko Iwata, Takayuki Katsuyama, Motoshi Komatsubara, Ryota Nagao, Kenichi Inagaki, Fumio Otsuka
Osteoblasts undergo differentiation in response to various factors, including growth factors and steroids. Bone mass is diminished in androgen- and/or growth hormone (GH)-deficient patients. However the functional relationship between androgen and GH, and their combined effects on bone metabolism, remains unclear. Here we investigated the mutual effects of androgen and GH on osteoblastic marker expression using mouse myoblastic C2C12 and osteoblast-like MC3T3-E1 cells. Combined treatment with dihydrotestosterone (DHT) and GH enhanced BMP-2-induced expression of Runx2, ALP, and osteocalcin mRNA, compared with the individual treatments in C2C12 cells...
January 5, 2017: Journal of Clinical Medicine
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