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https://www.readbyqxmd.com/read/29143747/the-digitised-clinical-trial
#1
Steven R Steinhubl, Patrick McGovern, Jesse Dylan, Eric J Topol
No abstract text is available yet for this article.
November 11, 2017: Lancet
https://www.readbyqxmd.com/read/29130150/predictors-of-adverse-psychological-experiences-surrounding-genome-wide-profiling-for-disease-risk
#2
K M Broady, K E Ormond, E J Topol, N J Schork, Cinnamon S Bloss
This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results...
November 13, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29125200/refreshing-rubbers-as-customized-photothermal-conversion-materials-through-post-darkening-modeling-production
#3
Ruiting Li, Zhen Wang, Peng Han, Yonglin He, Xiaohong Zhang, Yapei Wang
Organic conjugated polymers with low energy bandgap are rising as a particular class of NIR photothermal conversion materials. Yet these polymers routinely possess high phase transition temperature due to the rigid skeleton and strong intermolecular interaction. Rarely conjugated polymers can be thermally processed at low temperature, especially below 100°C. This work formulates a concept of post-darkening modeling production (p-DMP) by which the thermoplastic non-conjugated trans-polyisoprene (TPI) is refreshed into a photo-thermal conversion material with high light use efficiency...
November 10, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28982650/incidental-detection-of-maternal-neoplasia-in-noninvasive-prenatal-testing
#4
Nilesh G Dharajiya, Daniel S Grosu, Daniel H Farkas, Ron M McCullough, Eyad Almasri, Youting Sun, Sung K Kim, Taylor J Jensen, Juan-Sebastian Saldivar, Eric J Topol, Dirk van den Boom, Mathias Ehrich
BACKGROUND: Noninvasive prenatal testing (NIPT) uses cell-free DNA (cfDNA)(5) as an analyte to detect copy-number alterations in the fetal genome. Because maternal and fetal cfDNA contributions are comingled, changes in the maternal genome can manifest as abnormal NIPT results. Circulating tumor DNA (ctDNA) present in cases of maternal neoplasia has the potential to distort the NIPT readout to a degree that prevents interpretation, resulting in a nonreportable test result for fetal aneuploidy...
October 5, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28973063/the-pathway-to-patient-data-ownership-and-better-health
#5
Katherine A Mikk, Harry A Sleeper, Eric J Topol
No abstract text is available yet for this article.
October 17, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28947747/a-whole-blood-molecular-signature-for-acute-myocardial-infarction
#6
Evan D Muse, Eric R Kramer, Haiying Wang, Paddy Barrett, Fereshteh Parviz, Mark A Novotny, Roger S Lasken, Timothy A Jatkoe, Glenn Oliveira, Hongfan Peng, Jerry Lu, Mark C Connelly, Kurt Schilling, Chandra Rao, Ali Torkamani, Eric J Topol
Chest pain is a leading reason patients seek medical evaluation. While assays to detect myocyte death are used to diagnose a heart attack (acute myocardial infarction, AMI), there is no biomarker to indicate an impending cardiac event. Transcriptional patterns present in circulating endothelial cells (CEC) may provide a window into the plaque rupture process and identify a proximal biomarker for AMI. Thus, we aimed to identify a transcriptomic signature of AMI present in whole blood, but derived from CECs. Candidate genes indicative of AMI were nominated from microarray of enriched CEC samples, and then verified for detectability and predictive potential via qPCR in whole blood...
September 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28877483/dysregulation-of-mirna-9-in-a-subset-of-schizophrenia-patient-derived-neural-progenitor-cells
#7
Aaron Topol, Shijia Zhu, Brigham J Hartley, Jane English, Mads E Hauberg, Ngoc Tran, Chelsea Ann Rittenhouse, Anthony Simone, Douglas M Ruderfer, Jessica Johnson, Ben Readhead, Yoav Hadas, Peter A Gochman, Ying-Chih Wang, Hardik Shah, Gerard Cagney, Judith Rapoport, Fred H Gage, Joel T Dudley, Pamela Sklar, Manuel Mattheisen, David Cotter, Gang Fang, Kristen J Brennand
No abstract text is available yet for this article.
September 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/28841416/high-definition-medicine
#8
REVIEW
Ali Torkamani, Kristian G Andersen, Steven R Steinhubl, Eric J Topol
The foundation for a new era of data-driven medicine has been set by recent technological advances that enable the assessment and management of human health at an unprecedented level of resolution-what we refer to as high-definition medicine. Our ability to assess human health in high definition is enabled, in part, by advances in DNA sequencing, physiological and environmental monitoring, advanced imaging, and behavioral tracking. Our ability to understand and act upon these observations at equally high precision is driven by advances in genome editing, cellular reprogramming, tissue engineering, and information technologies, especially artificial intelligence...
August 24, 2017: Cell
https://www.readbyqxmd.com/read/28710368/genome-wide-linkage-analysis-of-large-multiple-multigenerational-families-identifies-novel-genetic-loci-for-coronary-artery-disease
#9
Yang Guo, Fan Wang, Lin Li, Hanxiang Gao, Stephen Arckacki, Isabel Z Wang, John Barnard, Stephen Ellis, Carlos Hubbard, Eric J Topol, Qiuyun Chen, Qing K Wang
Coronary artery disease (CAD) is the leading cause of death, and genetic factors contribute significantly to risk of CAD. This study aims to identify new CAD genetic loci through a large-scale linkage analysis of 24 large and multigenerational families with 433 family members (GeneQuest II). All family members were genotyped with markers spaced by every 10 cM and a model-free nonparametric linkage (NPL-all) analysis was carried out. Two highly significant CAD loci were identified on chromosome 17q21.2 (NPL score of 6...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28691025/protective-and-predisposing-morphological-factors-in-suprascapular-nerve-entrapment-syndrome-a-fundamental-review-based-on-recent-observations
#10
REVIEW
Piotr Łabętowicz, Marek Synder, Mariusz Wojciechowski, Krzysztof Orczyk, Hubert Jezierski, Mirosław Topol, Michał Polguj
Suprascapular nerve entrapment syndrome (SNES) is a neuropathy caused by compression of the nerve along its course. The most common compression sites include the suprascapular notch and the spinoglenoid notch. The aim of this article was to review the anatomical factors influencing the occurrence of SNES in the light of the newest reports. Potential predisposing morphological factors include a V-shaped, narrow, or "deep" suprascapular notch; a band-shaped, bifurcated, or completely ossified superior transverse scapular ligament (STSL); particular arrangements of the suprascapular nerve and vessels at the suprascapular notch...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28612916/types-of-coeliac-trunk-branching-including-accessory-hepatic-arteries-a-new-point-of-view-based-on-cadaveric-study
#11
Łukasz Olewnik, Grzegorz Wysiadecki, Michał Polguj, Anna Waśniewska, Mateusz Jankowski, Mirosław Topol
The coeliac trunk is major visceral branch of the abdominal aorta. Familiarity with anatomic variations of the coeliac trunk is relevant for planning radiological and surgical procedures. The aim of our research was determining variations of the coeliac trunk, including the occurrence of accessory hepatic arteries. 40 cadavers were studied. Six patterns of coeliac trunk branching were observed in this study. Accessory hepatic arteries were observed in seven specimens (17.5%). The most prevalent variation was normal trifurcation, accounting for 62...
June 14, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28513442/digitising-the-mind
#12
Paddy M Barrett, Steven R Steinhubl, Evan D Muse, Eric J Topol
No abstract text is available yet for this article.
May 13, 2017: Lancet
https://www.readbyqxmd.com/read/28432408/a-rare-anastomosis-between-the-common-hepatic-artery-and-the-superior-mesenteric-artery-a-case-report
#13
Łukasz Olewnik, Grzegorz Wysiadecki, Michał Polguj, Mirosław Topol
For decades, anastomoses between unpaired branches of the abdominal aorta have attracted the attention of anatomists, surgeons and radiologists, due to their significance in many clinical procedures. This report presents a rare anastomosis between the common hepatic artery and the superior mesenteric artery, which gave off three branches to the jejunum. The diameter of the anastomosis measured at the point of its branching off the common hepatic artery and at the level of union with the superior mesenteric artery was 4...
April 21, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28385020/ground-state-versus-excited-state-interchromophoric-interaction-topology-dependent-excimer-contribution-in-metal-organic-framework-photophysics
#14
Pravas Deria, Jierui Yu, Tanner Smith, Rajesh P Balaraman
Metal-organic frameworks (MOFs) define emerging materials with unique optoelectronic properties that stem from the highly organized chromophoric linkers within their frameworks. The extent of ground- and excited-state interchromophoric interaction among the π-conjugated macrocyclic linkers was studied within three tetraphenyl-pyrene (1,3,6,8-tetrakis(p-benzoic acid)pyrene; H4TBAPy)-based MOFs: ROD-7 (In2(OH)2TBAPy, frz), NU-901 (scu), and NU-1000 (csq) via steady-state and time-resolved spectroscopic techniques...
April 18, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28383544/mutation-of-wif1-a-potential-novel-cause-of-a-nail-patella-like-disorder
#15
Marilyn C Jones, Sarah E Topol, Manuel Rueda, Glenn Oliveira, Tierney Phillips, Emily G Spencer, Ali Torkamani
PURPOSE: Nail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dorsal-ventral patterning, explain approximately 95% of Nail-Patella syndrome cases. However, 5% of cases remain unexplained. METHODS: Here, we present exome sequencing and analysis of four generations of a family with a dominantly inherited Nail-Patella-like disorder (nail dysplasia with some features of Nail-Patella syndrome) who tested negative for LMX1B mutation...
October 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28155833/multiple-impulse-therapy-in-the-assessment-of-paraspinal-muscle-tone-in-patients-with-low-back-pain
#16
COMPARATIVE STUDY
Robert Haładaj, Mirosław Topol
BACKGROUND: Back pain is quite common in contemporary society, whose expectations of an effective analgesic therapy in conservative treatment lead to a necessity of searching for new diagnostic and therapeutic methods in physiotherapy. Out of the numerous physical therapy methods, Multiple Impulse Therapy (MIT) deserves special consideration. This paper aims to present and analyse the outcomes of MIT concerning paraspinal muscle tone and pain intensity in patients with low back pain. MATERIAL AND METHODS: The study enrolled 117 patients (50 women and 67 men; average age of 45...
November 30, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28137686/towards-a-smart-medical-home
#17
Evan D Muse, Paddy M Barrett, Steven R Steinhubl, Eric J Topol
No abstract text is available yet for this article.
January 28, 2017: Lancet
https://www.readbyqxmd.com/read/28104903/the-effectiveness-of-cervical-spondylosis-therapy-with-saunders-traction-device-and-high-intensity-laser-therapy-a-randomized-controlled-trial
#18
RANDOMIZED CONTROLLED TRIAL
Robert Haładaj, Mariusz Pingot, Mirosław Topol
BACKGROUND Among all spinal therapies, treatment of the cervical segment is the most difficult. The cervical segment is particularly sensitive to injuries and pain, and it also requires special care due to its great mobility and most delicate construction. The aim of this research was to evaluate analgesic efficacy and improvement of active mobility of the cervical spine after traction therapy with the Saunders device and high-intensity laser therapy (HILT) immediately after therapy, and in short-, medium-, and long-term follow-up in patients with cervical spondylosis...
January 20, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28030677/pure-genius-the-tv-series-is-there-an-icd-10-code-for-hyperbole
#19
Eric J Topol
No abstract text is available yet for this article.
January 3, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27975060/the-epidemiological-morphological-and-clinical-aspects-of-the-cervical-ribs-in-humans
#20
REVIEW
Łukasz Spadliński, Tomasz Cecot, Agata Majos, Ludomir Stefańczyk, Wioletta Pietruszewska, Grzegorz Wysiadecki, Mirosław Topol, Michał Polguj
A familiarity with the anatomy of some types of bone anomalies is necessary for clinicians involved in many medical areas. The aim of this paper is to review the newest literature concerning the morphology, embryology, clinical image, and therapeutic methods of the cervical ribs in the humans. The incidence of cervical ribs has been found to vary from 0.58% in Malaysian population to 6.2% in Turkish population. Cervical ribs have clinical implications that are generally divided into neurological or vascular...
2016: BioMed Research International
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