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Evan D Muse, Nathan E Wineinger, Emily G Spencer, Melissa Peters, Riley Henderson, Yunyue Zhang, Paddy M Barrett, Steven P Rivera, Jay G Wohlgemuth, James J Devlin, Dov Shiffman, Eric J Topol
BACKGROUND: Atrial fibrillation (AF) is the most commonly encountered arrhythmia and is associated with an elevated risk of stroke. Improving the identification of patients with the highest risk for AF to enable appropriate surveillance and treatment, if necessary, is critical to reducing AF-associated morbidity and mortality. Multiple common single nucleotide polymorphisms (SNPs) are unequivocally associated with the lifetime risk of AF. In the current study we aimed to prospectively validate an AF genetic risk score (GRS) in previously undiagnosed patients at risk for AF...
March 2018: PLoS Medicine
Anna Fabis-Strobin, Miroslaw Topol, Jaroslaw Fabis, Kryspin Niedzielski, Michal Podgorski, Lukasz Strobin, Michal Polguj
INTRODUCTION: Although the pathomechanism of isolated infraspinatus atrophy (ISA) in throwing sports is known to be traction, it is unclear why only some players are affected. One likely explanation is that the infraspinatus pulling force exerted by its contracture generate the compressive resultant component force (Fn) compressing the lateral trunk of the suprascapular nerve (LTSN) against the edge of scapular spine. This paper makes two key assumptions (1) the course of LTSN in relation to the scapular spine, defined as the suprascapular-scapular spine angle (SSSA) is the key individual anatomical feature influencing the Fn magnitude, and thus potentially ISA development (2) SSSA is correlated with scapular notch type...
March 9, 2018: Surgical and Radiologic Anatomy: SRA
Katherine A Mikk, Harry A Sleeper, Eric Topol
No abstract text is available yet for this article.
March 6, 2018: JAMA: the Journal of the American Medical Association
Grzegorz Wysiadecki, Adam Małkiewicz, Jacek Rożniecki, Michał Polguj, Robert Haładaj, Andrzej Żytkowski, Mirosław Topol
INTRODUCTION: The locations of gyral landmarks vary among individuals. This can be crucial during local landmark-based mapping of the human cortex, so the aim of the present study was to establish criteria for classifying the morphological variability of the human insula. MATERIALS AND METHODS: The study was conducted on 50 isolated, randomly-selected adult cadaveric hemispheres, fixed in 10% formalin and preserved in 70% ethanol (24 right and 26 left hemispheres)...
February 7, 2018: Clinical Anatomy
Steven R Steinhubl, Kwang-Il Kim, Toluwalase Ajayi, Eric J Topol
No abstract text is available yet for this article.
February 3, 2018: Lancet
Saurabh Jha, Eric J Topol
No abstract text is available yet for this article.
February 2, 2018: Journal of the American College of Radiology: JACR
Robert Haładaj, Grzegorz Wysiadecki, Michał Polguj, Mirosław Topol
Accessory rectus muscles have rarely been reported as muscular 'bands' or 'slips' originating from the common tendinous ring (annulus of Zinn) and inserting in atypical location. This group of muscles is innervated by the inferior branch of the oculomotor nerve, lies on lateral side of the optic nerve and inserts in rectus muscles. Since there are only few descriptions of such unusual findings in the medical literature, the anatomical data on accessory rectus muscles is limited. Furthermore, existing reports vary in terms of studied objects (cadavers or living subjects), medical history (absence or presence of ocular movement disorders or eye movement abnormalities) and details of anatomical description...
January 24, 2018: Surgical and Radiologic Anatomy: SRA
Kwang-Il Kim, Nima Nikzad, Giorgio Quer, Nathan E Wineinger, Matthieu Vegreville, Alexis Normand, Nicolas Schmidt, Eric J Topol, Steven Steinhubl
BACKGROUND: Using the data from 56,365 individuals, from 185 countries, and a Nokia Health Wireless blood pressure (BP) monitor, we investigated real-world characteristics of BP variability (BPV). METHODS: All included individuals self-measured and uploaded their BP using Bluetooth at least 20 times over a period of ≥1 month at a frequency and duration of their choosing. In total, 16,904,844 BP measurements were analyzed, with a median of 146 measurements per person (interquartile range [IQR] 73-321) over a median of 14 months (IQR 7-31)...
December 23, 2018: American Journal of Hypertension
Łukasz Olewnik, Grzegorz Wysiadecki, Michał Polguj, Michał Podgórski, Hubert Jezierski, Mirosław Topol
BACKGROUND: The palmaris longus (PL) muscle is characterised by high morphological diversity, and its tendon crosses the median nerve (MN) at different levels. Due to the fact that the palmaris longus tendon is routinely harvested for reconstruction of other tendons, knowledge of its morphological variations is clinically important. Therefore, the purpose of the study was to suggest a new morphological classification of the PL muscle and characterise the relationship of its tendon to the median nerve...
December 19, 2017: BMC Musculoskeletal Disorders
Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J Topol, Thomas Seufferlein, Bernhard O Boehm
BACKGROUND: Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1-2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes...
December 6, 2017: BMC Medicine
Manuel Rueda, Jennifer L Wagner, Tierney C Phillips, Sarah E Topol, Evan D Muse, Jonathan R Lucas, Glenn N Wagner, Eric J Topol, Ali Torkamani
The Scripps molecular autopsy study seeks to incorporate genetic testing into the postmortem examination of cases of sudden death in the young (<45 years old). Here, we describe the results from the first 2 years of the study, which consisted of whole exome sequencing (WES) of a cohort of 50 cases predominantly from San Diego County. Apart from the individual description of cases, we analyzed the data at the cohort-level, which brought new perspectives on the genetic causes of sudden death. We investigated the advantages and disadvantages of using WES compared to a gene panel for cardiac disease (usually the first genetic test used by medical examiners)...
2017: Frontiers in Cardiovascular Medicine
Steven R Steinhubl, Patrick McGovern, Jesse Dylan, Eric J Topol
No abstract text is available yet for this article.
November 11, 2017: Lancet
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
Ruiting Li, Zhen Wang, Peng Han, Yonglin He, Xiaohong Zhang, Yapei Wang
Organic conjugated polymers with low energy bandgaps are emerging as a particular class of near-infrared (NIR) photothermal conversion materials. However, these polymers routinely possess high phase transition temperatures due to the rigid skeleton and strong intermolecular interactions. Conjugated polymers can rarely 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 photothermal conversion material with high light use efficiency...
December 19, 2017: Chemistry: a European Journal
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
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
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
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
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
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
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