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https://www.readbyqxmd.com/read/28427384/imbalanced-target-prediction-with-pattern-discovery-on-clinical-data-repositories
#1
Tak-Ming Chan, Yuxi Li, Choo-Chiap Chiau, Jane Zhu, Jie Jiang, Yong Huo
BACKGROUND: Clinical data repositories (CDR) have great potential to improve outcome prediction and risk modeling. However, most clinical studies require careful study design, dedicated data collection efforts, and sophisticated modeling techniques before a hypothesis can be tested. We aim to bridge this gap, so that clinical domain users can perform first-hand prediction on existing repository data without complicated handling, and obtain insightful patterns of imbalanced targets for a formal study before it is conducted...
April 20, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28423571/predictive-analysis-of-long-non-coding-rna-expression-profiles-in-diffuse-large-b-cell-lymphoma
#2
Danxia Zhu, Cheng Fang, Xiaodong Li, Yiting Geng, Ruiqi Li, Chen Wu, Jingting Jiang, Changping Wu
Long non-coding RNAs (lncRNAs) are implicated in many tumors. To find novel targets for study of diffuse large B-cell lymphoma (DLBCL), our team performed genome-wide analyses of lncRNA expression in 5 DLBCL cell lines using the 4*180K Agilent lncRNA Chip system, and in normal B cells. Five lncRNAs were validated by quantitative reverse transcription polymerase chain reaction. The differentially expressed lncRNAs and mRNAs were identified via false discovery rate and fold-change filtering. Potential targets correlated with DLBCL were recognized via gene ontology and pathway analysis...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423512/kinase-analysis-of-penile-squamous-cell-carcinoma-on-multiple-platforms-to-identify-potential-therapeutic-targets
#3
Eddy S Yang, Christopher D Willey, Amitkumar Mehta, Michael R Crowley, David K Crossman, Dongquan Chen, Joshua C Anderson, Gurudatta Naik, Deborah L Della Manna, Tiffiny S Cooper, Guru Sonpavde
Penile squamous cell carcinoma (PSCC) is an orphan malignancy with poorly understood biology and suboptimal systemic therapy. Given that kinases may be drivers and readily actionable, we performed comprehensive multiplatform analysis of kinases in PSCC tumor and normal tissue. Fresh frozen tumors were collected from 11 patients with PSCC. After macrodissection to demarcate tumor from normal tissue, the samples underwent multiplatform analysis of kinases. Next Generation Sequencing (NGS) of 517 kinase genes was performed using Agilent Kinome capture and run on the Illumina MiSeq at PE150bp...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422950/application-of-high-resolution-array-comparative-genomic-hybridization-in-children-with-unknown-syndromic-microcephaly
#4
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou-Tzeli, Helena Fryssira
BACKROUND: Microcephaly can be either isolated or coexists with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. The present study describes the application of array-Comparative Genomic Hybridization (array-CGH) as a diagnostic tool for the study of patients with clinical unknown syndromic microcephaly...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28422524/straight-line-and-change-of-direction-intermittent-running-in-professional-soccer-players
#5
Mohamed S Fessi, Fayçal Farhat, Alexandre Dellal, James J Malone, Wassim Moalla
PURPOSE: The present study aimed to investigate the difference between straight-line (STL) and change of direction (COD) intermittent running exercises in soccer players. METHODS: Seventeen male professional soccer players performed the agility T-test and 6 intermittent running exercises: 10s at 130% of maximal aerobic speed (MAS) alternated with 10s of rest (10-10), 15s at 120% of MAS alternated with 15s of rest (15-15) and 30s at 110% of MAS alternated with 30s of rest (30-30) both in STL and with COD...
April 19, 2017: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/28420223/clinical-and-molecular-characterization-of-patients-with-fructose-1-6-bisphosphatase-deficiency
#6
Niu Li, Guoying Chang, Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Yanrong Qing, Juan Li, Yiping Shen, Jian Wang, Xiumin Wang
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, autosomal recessive inherited disease caused by the mutation of the FBP1 gene, the incidence is estimated to be between 1/350,000 and 1/900,000. The symptoms of affected individuals are non-specific and are easily confused with other metabolic disorders. The present study describes the clinical features of four Chinese pediatric patients who presented with hypoglycemia, hyperlactacidemia, metabolic acidosis, and hyperuricemia. Targeted-next generation sequencing using the Agilent SureSelect XT Inherited Disease Panel was used to screen for causal variants in the genome, and the clinically-relevant variants were subsequently verified using Sanger sequencing...
April 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28416892/anthropometric-and-physical-characteristics-allow-differentiation-of-young-female-volleyball-players-according-to-playing-position-and-level-of-expertise
#7
M Milić, Z Grgantov, K Chamari, L P Ardigò, A Bianco, J Padulo
The aim of our study was to determine the differences in some anthropometric and physical performance variables of young Croatian female volleyball players (aged 13 to 15) in relation to playing position (i.e., independent variable) and performance level within each position (i.e., independent variable). Players were categorized according to playing position (i.e., role) as middle blockers (n=28), opposite hitters (n=41), passer-hitters (n=54), setters (n=30), and liberos (n=28). Within each position, players were divided into a more successful group and a less successful group according to team ranking in the latest regional championship and player quality within the team...
March 2017: Biology of Sport
https://www.readbyqxmd.com/read/28415020/simultaneous-determination-of-ten-bioactive-constituents-of-sanjie-zhentong-capsule-in-rat-plasma-by-ultra-high-performance-liquid-chromatography-tandem-mass-spectrometry-and-its-application-to-a-pharmacokinetic-study
#8
Jiachun Li, Dongpo Li, Youzhi Pan, Jun-Hua Hu, Wenzhe Huang, Zhen-Zhong Wang, Wei Xiao, Yu Wang
Sanjie Zhentong capsule, a well-known traditional Chinese medicine prescription, are used for the treatment of endometriosis-related diseases. In this study, a simple, rapid and sensitive ultra-high-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) method was developed for the simultaneous determination of ten bioactive constituents, including peimine, peiminine, peimisine, loureirin A, loureirin B, 7,4'-dihydroxyflavone, pterostilbene, ginsenoside Rg1, ginsenoside Rb1, and notoginsenoside R1 in rat plasma after oral administration of Sanjie Zhentong capsule...
March 9, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28413209/duplication-17p11-2-potocki-lupski-syndrome-in-a-child-with-developmental-delay
#9
S Shuib, N N Saaid, Z Zakaria, J Ismail, Z Abdul Latiff
Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28410998/a-retrospective-longitudinal-analysis-of-anthropometric-and-physical-qualities-that-associate-with-adult-career-attainment-in-junior-rugby-league-players
#10
Kevin Till, David Morley, John O'Hara, Ben L Jones, Chris Chapman, Clive B Beggs, Carlton Cooke, Stephen Cobley
OBJECTIVES: To retrospectively compare the longitudinal physical development of junior rugby league players between the Under 13 and 15 age categories in relation to their adult career attainment outcome. DESIGN: Retrospective longitudinal design. METHODS: Fifty-one former junior rugby league players were retrospectively grouped according to their career attainment outcome as adults (i.e., amateur, academy or professional). As juniors, players undertook a physical testing battery on three consecutive annual occasions (Under 13s, 14s, 15s) including height, body mass, sum of four skinfolds, maturation, vertical jump, medicine ball chest throw, 10-60m sprint, agility 505 and estimated V˙O2max ...
March 30, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28410797/-infobarris-an-interactive-tool-to-monitor-and-disseminate-information-on-health-and-its-determinants-in-the-neighbourhoods-of-barcelona-spain
#11
Pere Llimona, Glòria Pérez, Maica Rodríguez-Sanz, Ana M Novoa, Albert Espelt, Patricia Garcia de Olalla, Carme Borrell
In order to know about the health of the population, it is necessary to perform a systematic and continuous analysis of their health status and social and economic health determinants. The objective of this paper is to describe the development and implementation of the Infobarris tool, which allows to visualize a wide battery of indicators and social determinants of health by neighbourhoods in the city of Barcelona (Spain). For the development of the Infobarris tool, we used an agile methodology that allows the development of a project in iterative and incremental stages, which are the following: selection of indicators, design of the prototype, development of the tool, data loading, and tool review and improvements...
April 11, 2017: Gaceta Sanitaria
https://www.readbyqxmd.com/read/28407071/decline-in-rna-integrity-of-dry-stored-soybean-seeds-correlates-with-loss-of-germination-potential
#12
Margaret B Fleming, Christopher M Richards, Christina Walters
This study investigates the relationship between germination ability and damage to RNA in soybean seeds (cv 'Williams 82') stored dry at 5 °C for 1-27 years. Total germination of 14 age cohorts harvested between 2015 and 1989 ranged from 100% to 3%. Germination decline followed classic seed viability kinetics, with symptomatic seed aging beginning after 17 years of storage. RNA integrity was assessed in dry seeds by electrophoresis of total RNA, followed by calculation of the RNA integrity number (RIN, Agilent Bioanalyzer software), which evaluates RNA fragment size distributions...
April 12, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28402530/mutations-in-the-human-robo1-gene-in-pituitary-stalk-interruption-syndrome
#13
Anu Bashamboo, Joelle Bignon-Topalovic, Nasser Moussi, Ken McElreavey, Raja Brauner
Context: Pituitary stalk interruption syndrome (PSIS) is characterised by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure or combined pituitary hormone deficiencies. Although genetic causes have been identified, they explain only around 5% of PSIS cases. Objective: To identify genetic causes of PSIS by exome sequencing...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28399753/rapid-change-in-cancer-care-demands-a-flexible-workforce-marsden-chief-nurse
#14
(no author information available yet)
An 'agile' cancer nursing workforce is needed to keep up with rapid advances in treatment and improved survival rates, according to the new chief nurse at one of the world's leading cancer hospitals.
April 12, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28397712/design-of-hair-like-appendages-and-comparative-analysis-on-their-coordination-toward-steady-and-efficient-swimming
#15
Bokeon Kwak, Joonbum Bae
Locomotion of water beetles have been widely studied in biology owing to their remarkable swimming skills. Inspired by the oar-like legs of water beetles, designing a robot that swims under the principle of drag-powered propulsion can lead to highly agile mobility. But its motion can easily be discontinuous and jerky due to backward motions (i.e., retraction) of the legs. Here we proposed novel hair-like appendages and considered their coordination to achieve steady and efficient swimming on the water surface...
April 11, 2017: Bioinspiration & Biomimetics
https://www.readbyqxmd.com/read/28394832/strength-and-conditioning-training-by-the-danish-national-handball-team-prior-to-an-olympic-tournament
#16
Thue Kvorning, Mikkel R B Hansen, Kurt Jensen
The physical demands imposed on national team handball teams during the Olympics imply significant physical preparation in order to improve performance and reduce incidence of injuries. The purpose of the present case report is to describe and analyze the strength and conditioning (S&C) training carried out by the Danish national handball team before the Beijing Olympic Games. Eight weeks of S&C was divided into blocks of 5 weeks emphasizing muscle hypertrophy and long interval running followed by 3 weeks emphasizing strength, power and short interval running...
April 7, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28394831/progression-in-youth-soccer-selection-and-identification-in-youth-soccer-players-aged-13-15-years
#17
Iraia Bidaurrazaga-Letona, José Antonio Lekue, Markos Amado, Susana Maria Gil
The aim of this study was to identify the factors which are important for the identification and selection of young soccer players. Ninety four adolescent soccer players from the Under-13 (U13; age=12.3 ± 0.3 years; n=50) and Under-15 (U15; age=14.0 ± 0.2 years; n=44) categories belonging to a professional club participated in the study. Anthropometric measurements, physical tests (sprint, agility, endurance and jump) and maturity status (age at peak height velocity) were recorded over four seasons. Comparisons were performed amongst new players joining the club (Enter players, n=15), players progressing to the next age category (Club players, n=54) and players leaving the club (Deselected players, n=25)...
April 7, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28388939/auto-detection-and-segmentation-of-daily-living-activities-during-a-timed-up-and-go-task-in-people-with-parkinson-s-disease-using-multiple-inertial-sensors
#18
Hung Nguyen, Karina Lebel, Patrick Boissy, Sarah Bogard, Etienne Goubault, Christian Duval
BACKGROUND: Wearable sensors have the potential to provide clinicians with access to motor performance of people with movement disorder as they undergo intervention. However, sensor data often have to be manually classified and segmented before they can be processed into clinical metrics. This process can be time consuming. We recently proposed detection and segmentation algorithms based on peak detection using Inertial Measurement Units (IMUs) to automatically identify and isolate common activities during daily living such as standing up, walking, turning, and sitting down...
April 7, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28387924/high-number-of-kinome-mutations-in-non-small-cell-lung-cancer-is-associated-with-reduced-immune-response-and-poor-relapse-free-survival
#19
Å Helland, O T Brustugun, S Nakken, A R Halvorsen, T Dønnem, R Bremnes, L T Busund, J Sun, S Lorenz, S K Solberg, L H Jørgensen, D Vodak, O Myklebost, E Hovig, L A Meza-Zepeda
Lung cancer is the leading cause of cancer related death, and the past years' improved insight into underlying molecular events has significantly improved outcome for specific subsets of patients. In particular, several new therapies that target protein kinases have been implemented, and many more are becoming available. We have investigated lung cancer specimens for somatic mutations in a targeted panel of 612 human genes, the majority being protein kinases. The somatic mutation profiles were correlated to profiles of immune cell infiltration as well as relapse-free survival...
April 7, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28386644/mutational-profiling-in-the-peripheral-blood-leukocytes-of-patients-with-systemic-mast-cell-activation-syndrome-using-next-generation-sequencing
#20
Janine Altmüller, Britta Haenisch, Amit Kawalia, Markus Menzen, Markus M Nöthen, Heide Fier, Gerhard J Molderings
Mast cell activation syndrome (MCAS) and systemic mastocytosis (SM) are two clinical systemic mast cell activation disease variants. Few studies to date have investigated the genetic basis of MCAS. The present study had two aims. First, to investigate whether peripheral blood leukocytes from MCAS patients also harbor somatic mutations in genes implicated in SM using next-generation sequencing (NGS) technology and a relatively large MCAS cohort. We also addressed the question, whether some of the previously as somatic reported mutations are indeed germline mutations...
April 6, 2017: Immunogenetics
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