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https://www.readbyqxmd.com/read/28445469/phylogenetic-ctdna-analysis-depicts-early-stage-lung-cancer-evolution
#1
Christopher Abbosh, Nicolai J Birkbak, Gareth A Wilson, Mariam Jamal-Hanjani, Tudor Constantin, Raheleh Salari, John Le Quesne, David A Moore, Selvaraju Veeriah, Rachel Rosenthal, Teresa Marafioti, Eser Kirkizlar, Thomas B K Watkins, Nicholas McGranahan, Sophia Ward, Luke Martinson, Joan Riley, Francesco Fraioli, Maise Al Bakir, Eva GrÖnroos, Francisco Zambrana, Raymondo Endozo, Wenya Linda Bi, Fiona M Fennessy, Nicole Sponer, Diana Johnson, Joanne Laycock, Seema Shafi, Justyna Czyzewska-Khan, Andrew Rowan, Tim Chambers, Nik Matthews, Samra Turajlic, Crispin Hiley, Siow Ming Lee, Martin D Forster, Tanya Ahmad, Mary Falzon, Elaine Borg, David Lawrence, Martin Hayward, Shyam Kolvekar, Nikolaos Panagiotopoulos, Sam M Janes, Ricky Thakrar, Asia Ahmed, Fiona Blackhall, Yvonne Summers, Dina Hafez, Ashwini Naik, Apratim Ganguly, Stephanie Kareht, Rajesh Shah, Leena Joseph, Anne Marie Quinn, Phil Crosbie, Babu Naidu, Gary Middleton, Gerald Langman, Simon Trotter, Marianne Nicolson, Hardy Remmen, Keith Kerr, Mahendran Chetty, Lesley Gomersall, Dean A Fennell, Apostolos Nakas, Sridhar Rathinam, Girija Anand, Sajid Khan, Peter Russell, Veni Ezhil, Babikir Ismail, Melanie Irvin-Sellers, Vineet Prakash, Jason F Lester, Malgorzata Kornaszewska, Richard Attanoos, Haydn Adams, Helen Davies, Dahmane Oukrif, Ayse U Akarca, John A Hartley, Helen L Lowe, Sara Lock, Natasha Iles, Harriet Bell, Yenting Ngai, Greg Elgar, Zoltan Szallasi, Roland F Schwarz, Javier Herrero, Aengus Stewart, Sergio A Quezada, Peter Van Loo, Caroline Dive, C Jimmy Lin, Matthew Rabinowitz, Hugo Jwl Aerts, Allan Hackshaw, Jacqui A Shaw, Bernhard G Zimmermann, Charles Swanton
The early detection of relapse following primary surgery for non-small cell lung cancer and the characterization of emerging subclones seeding metastatic sites might offer new therapeutic approaches to limit tumor recurrence. The potential to non-invasively track tumor evolutionary dynamics in ctDNA of early-stage lung cancer is not established. Here we conduct a tumour-specific phylogenetic approach to ctDNA profiling in the first 100 TRACERx (TRAcking non-small cell lung Cancer Evolution through therapy (Rx)) study participants, including one patient co-recruited to the PEACE (Posthumous Evaluation of Advanced Cancer Environment) post-mortem study...
April 26, 2017: Nature
https://www.readbyqxmd.com/read/28445112/tracking-the-evolution-of-non-small-cell-lung-cancer
#2
Mariam Jamal-Hanjani, Gareth A Wilson, Nicholas McGranahan, Nicolai J Birkbak, Thomas B K Watkins, Selvaraju Veeriah, Seema Shafi, Diana H Johnson, Richard Mitter, Rachel Rosenthal, Max Salm, Stuart Horswell, Mickael Escudero, Nik Matthews, Andrew Rowan, Tim Chambers, David A Moore, Samra Turajlic, Hang Xu, Siow-Ming Lee, Martin D Forster, Tanya Ahmad, Crispin T Hiley, Christopher Abbosh, Mary Falzon, Elaine Borg, Teresa Marafioti, David Lawrence, Martin Hayward, Shyam Kolvekar, Nikolaos Panagiotopoulos, Sam M Janes, Ricky Thakrar, Asia Ahmed, Fiona Blackhall, Yvonne Summers, Rajesh Shah, Leena Joseph, Anne M Quinn, Phil A Crosbie, Babu Naidu, Gary Middleton, Gerald Langman, Simon Trotter, Marianne Nicolson, Hardy Remmen, Keith Kerr, Mahendran Chetty, Lesley Gomersall, Dean A Fennell, Apostolos Nakas, Sridhar Rathinam, Girija Anand, Sajid Khan, Peter Russell, Veni Ezhil, Babikir Ismail, Melanie Irvin-Sellers, Vineet Prakash, Jason F Lester, Malgorzata Kornaszewska, Richard Attanoos, Haydn Adams, Helen Davies, Stefan Dentro, Philippe Taniere, Brendan O'Sullivan, Helen L Lowe, John A Hartley, Natasha Iles, Harriet Bell, Yenting Ngai, Jacqui A Shaw, Javier Herrero, Zoltan Szallasi, Roland F Schwarz, Aengus Stewart, Sergio A Quezada, John Le Quesne, Peter Van Loo, Caroline Dive, Allan Hackshaw, Charles Swanton
Background Among patients with non-small-cell lung cancer (NSCLC), data on intratumor heterogeneity and cancer genome evolution have been limited to small retrospective cohorts. We wanted to prospectively investigate intratumor heterogeneity in relation to clinical outcome and to determine the clonal nature of driver events and evolutionary processes in early-stage NSCLC. Methods In this prospective cohort study, we performed multiregion whole-exome sequencing on 100 early-stage NSCLC tumors that had been resected before systemic therapy...
April 26, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28444663/transcriptional-coactivator-p300-and-silent-information-regulator-1-sirt1-gene-polymorphism-associated-with-diabetic-kidney-disease-in-a-chinese-cohort
#3
Kang Tang, Mingfang Sun, Jing Shen, Bo Zhou
One of the most serious complications of diabetes mellitus, which could lead to end-stage renal disease across all demographics, is 'diabetic kidney disease'. However, how diabetic kidney disease develops remains unclear. Studies conducted thus far suggest that a major factor in the origination and development of the disease occurs through histone acetylation modifications. This study aims to examine the probable relationship in Chinese patients suffering from type 2 diabetes. A case-control study was conducted in the Chongqing region of China on the Chinese Han population...
April 25, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28444569/a-new-science-publishing-system-for-a-budding-science-publishing-crisis
#4
Carlos Fernandez-Patron, Eugenio Hardy
The current science publishing system is in need of a positive transformation for the good of scientists and society as a whole. Herein, we propose features that, in our view, will distinguish the science publishing system of the future.
April 25, 2017: Science and Engineering Ethics
https://www.readbyqxmd.com/read/28444211/effects-of-sample-size-and-full-sibs-on-genetic-diversity-characterization-a-case-study-of-three-syntopic-iberian-pond-breeding-amphibians
#5
Gregorio Sánchez-Montes, Arturo H Ariño, José L Vizmanos, Jinliang Wang, Íñigo Martínez-Solano
Accurate characterization of genetic diversity is essential for understanding population demography, predicting future trends and implementing efficient conservation policies. For that purpose, molecular markers are routinely developed for non-model species, but key questions regarding sampling design, like calculation of minimum sample sizes or the effect of relatives in the sample, are often neglected. We used accumulation curves and sibship analyses to explore how these two factors affect marker performance in the characterization of genetic diversity...
April 24, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/28444099/association-of-the-protein-tyrosine-phosphatase-non-receptor-22-polymorphism-ptpn22-with-endometriosis-a-meta-analysis
#6
Noel Pabalan, Hamdi Jarjanazi, Denise Maria Christofolini, Bianca Bianco, Caio Parente Barbosa
Objective: To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. Methods: A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism. Results: A significant increased risk in all genetic models of the variant T allele with endometriosis (odds ratio: 3...
January 2017: Einstein
https://www.readbyqxmd.com/read/28442843/cognitive-and-technical-skill-assessment-in-surgical-education-a-changing-horizon
#7
REVIEW
Ashley Vergis, Krista Hardy
Assessment is an integral component of training and credentialing surgeons for practice. Traditional methods of cognitive and technical appraisal are well established but have clear shortcomings. This review outlines the components of the surgical care assessment model, identifies the deficits of current evaluation techniques, and discusses novel and emerging technologies that attempt to ameliorate this educational void.
April 2017: Indian Journal of Surgery
https://www.readbyqxmd.com/read/28441310/a-dose-response-curve-for-a-gram-negative-spinal-implant-infection-model-in-rabbits
#8
Joseph L Laratta, Jamal N Shillingford, Nathan Hardy, Ronald A Lehman, Lawrence G Lenke, K Daniel Riew
STUDY DESIGN: Randomized complete block animal spinal implant infection model with internal control. OBJECTIVE: To develop a spinal implant animal infection model to simulate postoperative gram-negative wound infection. SUMMARY OF BACKGROUND DATA: Implant-associated surgical site infections (SSI) remain a dreaded complication of spinal surgery. Currently, over 30% of all spine SSIs are secondary to gram-negative bacteria. Traditional animal models have utilized gram-positive inoculums to simulate postoperative infection, but there exists no model in the literature for gram-negative infection in the setting of spinal instrumentation...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28438712/empirical-consideration-of-the-effects-of-acquisition-parameters-and-analysis-model-on-clinically-feasible-q-ball-imaging
#9
Kurt Schilling, Vishwesh Nath, Justin A Blaber, Prasanna Parvathaneni, Adam W Anderson, Bennett A Landman
Q-ball imaging (QBI) is a popular high angular resolution diffusion imaging (HARDI) technique used to study brain architecture in vivo. Simulation and phantom-based studies suggest that QBI results are affected by the b-value, the number of diffusion weighting directions, and the signal-to-noise ratio (SNR). However, optimal acquisition schemes for QBI in clinical settings are largely undetermined given empirical (observed) imaging considerations. In this study, we acquire a HARDI dataset at five b-values with 11 repetitions on a single subject to investigate the effects of acquisition scheme and subsequent analysis models on the accuracy and precision of measures of tissue composition and fiber orientation derived from clinically feasible QBI at 3T...
April 21, 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28438554/interleukin-17f-and-interleukin-6-gene-polymorphisms-in-asian-indian-patients-with-takayasu-arteritis
#10
Debashish Danda, Ruchika Goel, Sumita Danda, Hindhumathi Mohan, George Joseph, Jayakanthan Kabeerdoss, Swapan K Nath
OBJECTIVES: To assess genetic association between single nucleotide polymorphisms (SNPs) in genes encoding T-helper cytokines and Takayasu Arteritis (TA) susceptibility in Indian population. METHODS: In Phase-1, the genomic DNA of 120 TA patients and 119 healthy controls were genotyped for SNPs rs1800795 (interleukin (IL)-6), rs763780 (IL-17F), rs1800871, rs1800872, rs1800896 (IL-10) and rs1800468, rs1800469, rs1800470 (transforming growth factor-β). Allele frequencies between cases and controls were compared using chi-squared test and also reassessed empirically (pe) by 10,000 permutations...
April 21, 2017: Human Immunology
https://www.readbyqxmd.com/read/28437558/genetic-diversity-of-bromeliaceae-species-from-the-atlantic-forest
#11
Y Sheu, A S Cunha-Machado, A B P L Gontijo, F C Favoreto, T B C Soares, F D Miranda
The Bromeliaceae family includes a range of species used for many purposes, including ornamental use and use as food, medicine, feed, and fiber. The state of Espírito Santo, Brazil is a center of diversity for this family in the Atlantic Forest. We evaluated the genetic diversity of five populations of the Bromeliaceae family, including specimens of the genera Aechmea, Billbergia (subfamily Bromelioideae), and Pitcairnia (subfamily Pitcairnioidea), all found in the Atlantic Forest and distributed in the state of Espírito Santo...
April 20, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28435568/early-vessels-exploration-of-pink-pulseless-hand-in-gartland-iii-supracondylar-fracture-humerus-in-children-facts-and-controversies
#12
T Z Tunku-Naziha, Wms Wan-Yuhana, D Hadizie, Muhammad-Paiman, S Abdul-Nawfar, W S Wan-Azman, M S Arman-Z, S Abdul-Razak, M Z Rhendra-Hardy, W I Wan-Faisham
The management of pink pulseless limbs in supracondylar fractures has remained controversial, especially with regards to the indication for exploration in a clinically well-perfused hand. We reviewed a series of seven patients who underwent surgical exploration of the brachial artery following supracondylar fracture. All patients had a non-palpable radial artery, which was confirmed by Doppler ultrasound. CT angiography revealed complete blockage of the artery with good collateral and distal run-off. Two patients were more complicated with peripheral nerve injuries, one median nerve and one ulnar nerve...
March 2017: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28435307/comparison-of-cyp2c9-cyp2c19-cyp2d6-abcb1-and-slco1b1-gene-polymorphism-frequency-in-russian-and-nanai-populations
#13
Dmitrij Alekseevitch Sychev, Grigorij Nikolaevich Shuev, Salavat Shejhovich Suleymanov, Kristina Anatol'evna Ryzhikova, Karin Badavievich Mirzaev, Elena Anatol'evna Grishina, Natalia Evgenievna Snalina, Zhannet Alimovna Sozaeva, Anton Mikhailovich Grabuzdov, Irina Andreevna Matsneva
BACKGROUND: The efficiency and safety of drug therapy depends on the peculiarities of functioning of the P450 cytochrome group and transporting proteins. There are significant differences for single-nucleotide polymorphism (SNP) frequency. MATERIALS AND METHODS: We studied the peculiarities of P450 cytochrome polymorphisms, SLCO1B1 transporting protein, and P-glycoprotein carriage in healthy volunteers in the Nanai ethnic group living in Russia, and compared them to the carriage of SNPs in the Russian population according to literature data...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28434937/defining-a-research-agenda-to-address-the-converging-epidemics-of-tuberculosis-and-diabetes-part-2-underlying-biological-mechanisms
#14
REVIEW
Katharina Ronacher, Reinout van Crevel, Julia Critchley, Andrew A Bremer, Larry S Schlesinger, Anil Kapur, Randall Basaraba, Hardy Kornfeld, Blanca I Restrepo
There is growing interest in the re-emerging interaction between type 2 diabetes (DM) and tuberculosis (TB), but the underlying biological mechanisms are poorly understood despite their possible implications in clinical management. Experts in epidemiological, public health, basic science and clinical studies recently convened and identified research priorities for elucidating the underlying mechanisms for the co-ocurrence of TB and DM. We identified gaps in current knowlege of altered immunity in DM patients during TB, where most studies suggest an under-performing innate immunity, but exaggerated adaptive immunity to Mycobacterium tuberculosis...
April 19, 2017: Chest
https://www.readbyqxmd.com/read/28434936/defining-a-research-agenda-to-address-the-converging-epidemics-of-tuberculosis-and-diabetes-part-1-epidemiology-and-clinical-management
#15
REVIEW
Julia A Critchley, Blanca I Restrepo, Katharina Ronacher, Anil Kapur, Andrew A Bremer, Larry S Schlesinger, Randall Basaraba, Hardy Kornfeld, Reinout van Crevel
There is growing interest in the interaction between type 2 diabetes (DM) and tuberculosis (TB), but many research questions remain unanswered. Epidemiologists, basic scientists and clinical experts recently convened and identified priorities. This is the first of two reviews on this topic, summarising priority areas of research with regard to epidemiology, clinical management and public health. First, from an epidemiological point of view, more study is needed to determine the importance of transient hyperglycemia in TB patients, and on the importance of DM for the global epidemic of multi-drug resistant (MDR)-TB...
April 19, 2017: Chest
https://www.readbyqxmd.com/read/28434151/cbf2a-cbf4b-genomic-region-copy-numbers-alongside-the-circadian-clock-play-key-regulatory-mechanisms-driving-expression-of-fr-h2-cbfs
#16
Taniya Dhillon, Kengo Morohashi, Eric J Stockinger
The C-Repeat Binding Factors (CBFs) are DNA-binding transcriptional activators that were identified using Arabidopsis thaliana. In barley, Hordeum vulgare, a cluster of CBF genes reside at FROST RESISTANCE-H2, one of two loci having major effects on winter-hardiness. FR-H2 was revealed in a population derived from the winter barley 'Nure' and the spring barley 'Trèmois'. 'Nure' harbors two to three copies of CBF2A and CBF4B as a consequence of tandem iteration of the genomic region encompassing these genes whereas 'Trèmois' harbors single copies, and these copy number differences are associated with their transcript level differences...
April 22, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/28434084/population-data-of-23-autosomal-str-loci-in-the-chinese-han-population-from-guangdong-province-in-southern-china
#17
Luyu Yang, Xiufeng Zhang, Lijuan Zhao, Yanan Sun, Jiajue Li, Renwu Huang, Liping Hu, Shengjie Nie
The genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci included in the HuaxiaTM Platinum kit were evaluated in 1533 unrelated healthy Guangdong Han individuals living in the Guangdong Province in southern China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine the allele frequencies and forensic statistical parameters. The genetic relationship between the Guangdong Han and other Chinese populations was also estimated. The combined discrimination power and the probability of excluding the paternity of 23 STR loci were 0...
April 22, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28433751/elevated-chaperone-proteins-are-a-feature-of-winter-freeze-avoidance-by-larvae-of-the-goldenrod-gall-moth-epiblema-scudderiana
#18
Guijun Zhang, Janet M Storey, Kenneth B Storey
Winter survival for many insect species includes a need to maintain metabolic homeostasis and structural/functional integrity of macromolecules not only over a wide range of cold temperatures but also in response to rapid temperature change. Chaperones are well-known to protect/stabilize protein structure with regard to heat stress but less is known about their potential involvement in long-term protection of the proteome at subzero temperatures. The present study assessed the participation of chaperone proteins in the cold hardiness of larvae of the goldenrod gall moth, Epiblema scudderiana (Clemens) (Lepidoptera, Olethreutidae), monitoring changes in nine proteins over the winter months as well as their responses to laboratory cold acclimation or anoxia exposure...
April 19, 2017: Journal of Insect Physiology
https://www.readbyqxmd.com/read/28433464/electronic-synoptic-reporting-assessing-the-completeness-of-synoptic-and-narrative-reports-for-roux-en-y-gastric-bypass
#19
Ashley Vergis, Shannon E Stogryn, Michael J Mullan, Krista Hardy
BACKGROUND: Operative reporting is the foundation of surgical communication. The quality indicators (QIs) contained in these reports can be used to document the performance of processes that affect patient care and may afford quality assurance with improvement in healthcare. OBJECTIVES: We assessed the degree to which the electronic synoptic report (SR) documents the operative QIs compared with narrative reports (NR) for Roux-en-Y gastric bypass (RYGB). The time to report availability on patient chart was also identified as a secondary measure...
March 7, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#20
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
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