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https://www.readbyqxmd.com/read/29332008/leg-stereotypy-syndrome-phenomenology-and-prevalence
#1
Mitesh Lotia, Michele K York, Adriana M Strutt, Joseph Jankovic
OBJECTIVES: To describe the phenomenology and prevalence of leg stereotypy syndrome (LSS), characterised chiefly by repetitive, rhythmical, stereotypic leg movement, especially when sitting. METHODS: We sought to characterise LSS in two groups of subjects: (1) general population (GP) group, defined as individuals accompanying patients during their visits to Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic who are not genetically related to the patients; and (2) movement disorders (MD) group, composed of consecutive patients with diagnoses of restless legs syndrome, Parkinson's disease, Tourette syndrome and tardive dyskinesia...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29278599/meeting-report-from-the-2016-11th-biennial-ovarian-cancer-research-symposium-mechanisms-of-initiation-and-progression-of-ovarian-cancers
#2
Jeremy Chien, Geeta Mehta
OBJECTIVE: The aim of this study was to review the latest research advances on the mechanisms of initiation and progression of ovarian cancer. METHODS: At the 11th Biennial Ovarian Cancer Research Symposium, which was held in Seattle, Washington in September 2016, leaders in ovarian cancer research convened to present and discuss current advances and future directions in ovarian cancer research. RESULTS: One session was dedicated to Mechanisms of Initiation and Progression of Ovarian Cancer, and included a keynote presentation from Dr Ronny Drapkin, MD (University of Pennsylvania), and an invited oral presentation from Laising Yen, PhD (Baylor College of Medicine)...
November 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29276006/wnt-signaling-perturbations-underlie-the-genetic-heterogeneity-of-robinow-syndrome
#3
Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W M van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover-Fong, Ceren D Durmaz, Halil Gurhan Karabulut, Ebru Marzioglu-Ozdemir, Atilla Cayir, Mehmet B Duz, Mehmet Seven, Susan Price, Barbara Merfort Ferreira, Angela M Vianna-Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N Jhangiani, Richard A Gibbs, Han G Brunner, V Reid Sutton, James R Lupski, Claudia M B Carvalho
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved...
December 16, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29259040/small-ca2-releases-enable-hour-long-high-frequency-contractions-in-midshipman-swimbladder-muscle
#4
Frank E Nelson, Stephen Hollingworth, James O Marx, Stephen M Baylor, Lawrence C Rome
Type I males of the Pacific midshipman fish (Porichthys notatus) vibrate their swimbladder to generate mating calls, or "hums," that attract females to their nests. In contrast to the intermittent calls produced by male Atlantic toadfish (Opsanus tau), which occur with a duty cycle (calling time divided by total time) of only 3-8%, midshipman can call continuously for up to an hour. With 100% duty cycles and frequencies of 50-100 Hz (15°C), the superfast muscle fibers that surround the midshipman swimbladder may contract and relax as many as 360,000 times in 1 h...
December 19, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/29193683/prognostic-value-of-urinary-11-dehydro-thromboxane-b2-for-mortality-a-cohort-study-of-stable-coronary-artery-disease-patients-treated-with-aspirin
#5
Anupama Vasudevan, Kristen M Tecson, Jeanna Bennett-Firmin, Teodoro Bottiglieri, Luis R Lopez, Margarita Peterson, Mohanakrishnan Sathyamoorthy, Raphael Schiffmann, Jeffrey M Schussler, Caren Swift, Carlos E Velasco, Peter A McCullough
AIM: There is a variable cardiovascular risk reduction attributable to aspirin because of individual differences in the suppression of thromboxane A2 and its downstream metabolite 11-dehydro-thromboxane B2 (11dhTxB2 ). The aim of this study is to evaluate the optimal cut point of urinary 11dhTxB2 for the risk of mortality in aspirin-treated coronary artery disease (CAD) patients. METHODS AND RESULTS: This was a prospective cohort study including stable CAD patients who visited the Baylor Heart and Vascular Hospital in Dallas or the Texas Heart Hospital Baylor Plano, TX between 2010 and 2013...
November 29, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/29170691/does-time-heal-all-wounds-a-case-study-on-rival-perceptions-before-and-after-conference-realignment
#6
Cody T Havard, Daniel L Wann, Timothy D Ryan, Norman O'Neal
The current longitudinal case study investigated how conference realignment and beginning new annual competitions impacted fan rival perceptions for fans of the Texas A&M Aggies, Missouri Tigers, and Texas Christian University Horned Frogs. In particular, fan rival perceptions before and after conference realignment were compared to determine if significant differences were present. Findings indicate that history plays an important role in rivalry as fans of teams sharing longstanding rivalries with schools in their previous conference (i...
2017: International Journal of Exercise Science
https://www.readbyqxmd.com/read/29168653/utilizing-biomarkers-in-colorectal-cancer-an-interview-with-ajay-goel
#7
Ajay Goel
Ajay Goel, PhD, is a Professor and Director, Center for Gastrointestinal Research, and Director, Center for Translational Genomics and Oncology, at the Baylor Scott & White Research Institute, Baylor University Medical Center in Dallas, Texas. Dr Goel has spent more than 20 years researching cancer and has been the lead author or contributor to over 240 scientific articles published in peer-reviewed international journals and several book chapters. He is also a primary inventor on more than 15 international patents aimed at developing various biomarkers for the diagnosis, prognosis and prediction of gastrointestinal cancers...
November 23, 2017: Future Oncology
https://www.readbyqxmd.com/read/29151699/scoring-systems-for-peptic-ulcer-bleeding-which-one-to-use
#8
Ivan Budimir, Sanja Stojsavljević, Neven Baršić, Alen Bišćanin, Gorana Mirošević, Sven Bohnec, Lora Stanka Kirigin, Tajana Pavić, Neven Ljubičić
AIM: To compare the Glasgow-Blatchford score (GBS), Rockall score (RS) and Baylor bleeding score (BBS) in predicting clinical outcomes and need for interventions in patients with bleeding peptic ulcers. METHODS: Between January 2008 and December 2013, 1012 consecutive patients admitted with peptic ulcer bleeding (PUB) were prospectively followed. The pre-endoscopic RS, BBS and GBS, as well as the post-endoscopic diagnostic scores (RS and BBS) were calculated for all patients according to their urgent upper endoscopy findings...
November 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29141071/usefulness-of-total-12-lead-qrs-voltage-as-a-clue-to-diagnosis-of-patients-with-cardiac-sarcoidosis-severe-enough-to-warrant-orthotopic-heart-transplant
#9
William C Roberts, Tiffany M Becker, Shelley A Hall
Importance: Severe heart failure caused by cardiac sarcoidosis is difficult to diagnosis without biopsy. Objective: To assess whether total electrocardiographic 12-lead QRS voltage may be a clue to diagnosis. Design, Setting, Participants: Case-series study with cases collected at Baylor University Medical Center at Dallas, Dallas, Texas, from January 13, 2005, to January 24, 2017. The clinical records of 16 patients with severe heart failure caused by cardiac sarcoidosis were studied...
November 15, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29122860/genome-sequences-of-three-cluster-au-arthrobacter-phages-caterpillar-nightmare-and-teacup
#10
Tamarah L Adair, Emily Stowe, Marie C Pizzorno, Gregory Krukonis, Melinda Harrison, Steven G Cresawn, Rebecca A Garlena, Daniel A Russell, Welkin H Pope, Deborah Jacobs-Sera, Graham F Hatfull
Caterpillar, Nightmare, and Teacup are cluster AU siphoviral phages isolated from enriched soil on Arthrobacter sp. strain ATCC 21022. These genomes are 58 kbp long with an average G+C content of 50%. Sequence analysis predicts 86 to 92 protein-coding genes, including a large number of small proteins with predicted transmembrane domains.
November 9, 2017: Genome Announcements
https://www.readbyqxmd.com/read/29122859/genome-sequences-of-12-cluster-an-arthrobacter-phages
#11
Julia Y Lee-Soety, Shantanu Bhatt, Tamarah L Adair, J Alfred Bonilla, Karen K Klyczek, Melinda Harrison, Rebecca A Garlena, Charles A Bowman, Daniel A Russell, Welkin H Pope, Deborah Jacobs-Sera, Steven G Cresawn, Graham F Hatfull
Twelve siphoviral phages isolated using Arthrobacter sp. strain ATCC 21022 were sequenced. The phages all have relatively small genomes, ranging from 15,319 to 15,556 bp. All 12 phages are closely related to previously described cluster AN Arthrobacter phages.
November 9, 2017: Genome Announcements
https://www.readbyqxmd.com/read/29100092/mutations-in-fibronectin-cause-a-subtype-of-spondylometaphyseal-dysplasia-with-corner-fractures
#12
Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, Débora Bertola, Carlo L Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Richard Pauli, Carlos Bacino, Deborah Krakow, Jillian Parboosingh, Patrick Yap, Ariana Kariminejad, Marie T McDonald, Mariana I Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, James T Lu, Dan H Cohn, Marco Tartaglia, Brendan H Lee, Dieter P Reinhardt, Philippe M Campeau
Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals with SMD with the radiographic appearance of "corner fractures" at metaphyses, we identified three individuals with fibronectin (FN1) variants affecting highly conserved residues...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29097454/complete-genome-sequences-of-arthrobacter-phages-beans-franzy-jordan-piccoletto-shade-and-timinator
#13
Tamarah L Adair, J Alfred Bonilla, Karen K Klyczek, Julia Y Lee-Soety, German Rosas-Acosta, Melinda Harrison, Charles A Bowman, Steven G Cresawn, Rebecca A Garlena, Daniel A Russell, Welkin H Pope, Deborah Jacobs-Sera, Graham F Hatfull
We report here the genome sequences of six newly isolated bacteriophages infecting Arthrobacter sp. ATCC 21022. All six have myoviral morphologies and have double-stranded DNA genomes with circularly permuted ends. The six phages are closely related with average nucleotide identities of 73.4 to 93.0% across genomes lengths of 49,797 to 51,347 bp.
November 2, 2017: Genome Announcements
https://www.readbyqxmd.com/read/29058218/ontology-based-vaccine-adverse-event-representation-and-analysis
#14
Jiangan Xie, Yongqun He
Vaccine is the one of the greatest inventions of modern medicine that has contributed most to the relief of human misery and the exciting increase in life expectancy. In 1796, an English country physician, Edward Jenner, discovered that inoculating mankind with cowpox can protect them from smallpox (Riedel S, Edward Jenner and the history of smallpox and vaccination. Proceedings (Baylor University. Medical Center) 18(1):21, 2005). Based on the vaccination worldwide, we finally succeeded in the eradication of smallpox in 1977 (Henderson, Vaccine 29:D7-D9, 2011)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28985892/laparoscopic-donor-nephrectomy-a-single-institution-minimally-invasive-general-surgeon-experience-1999-2013
#15
Benjamin Raber, Matthew Westmoreland, David Arnold, Butch Derek, Richard Lueking, Grace Lassiter, Elizabeth Nguyen
BACKGROUND: Laparoscopic donor nephrectomy (LDN) is the standard of care for donor nephrectomies. No large series reports have been published detailing the LDN experience of minimally invasive general surgeons. METHODS: A retrospective review of 526 LDNs performed by MIS general surgeons at Baylor University Medical Center between 1999 and 2013. Complications were graded on the Clavien scale. The learning curve was determined by procedure time. RESULTS: The complication rate was 3...
September 29, 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/28973416/the-molecular-design-research-network-an-overview
#16
Philip Coish, Bryan W Brooks, Evan P Gallagher, Margaret Mills, Terrance J Kavanagh, Nancy Simcox, Grace A Lasker, Dianne Botta, Stephanie C Schmuck, Adelina Voutchkova-Kostal, Jakub Kostal, Melissa L Mullins, Suzanne M Nesmith, Karolina E Mellor, Jone Corrales, Lauren A Kristofco, Gavin N Saari, W Baylor Steele, Longzhu Q Shen, Fjodor Melnikov, Julie B Zimmerman, Paul T Anastas
Herein we provide an overview of a research collaborative aimed at fostering interdisciplinary collaboration between chemists and toxicologists with the aim of rationally designing safer commercial chemicals. The collaborative, Molecular Design Research Network (MoDRN), was created in 2013 with funding from the EPA-NSF Networks for Sustainable Molecular Design and Synthesis program. It is a collaboration led by four universities, Baylor University, University of Washington, The George Washington University, and Yale University...
August 30, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28966450/comparison-of-outcomes-of-laparoscopic-heller-myotomy-versus-per-oral-endoscopic-myotomy-for-management-of-achalasia
#17
Steven G Leeds, J S Burdick, Gerald O Ogola, Estrellita Ontiveros
Achalasia is a rare disorder that has several treatment options. The gold standard of treatment is a surgical myotomy called a laparoscopic Heller myotomy (LHM). More recently, an endoscopic myotomy has become an option as well, called per-oral endoscopic myotomy (POEM). An achalasia registry was queried for patients undergoing either LHM or POEM at Baylor University Medical Center at Dallas. Patient demographics, preoperative and postoperative data points, and Eckardt scores were collected. The patients were further stratified into their follow-up intervals, immediate postoperative and long-term follow-up, to assess surgical success...
October 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28966443/clinical-uptake-of-antimicrobial-stewardship-recommendations-following-nanosphere-verigene-blood-culture-gram-negative-reporting
#18
Aaron Belknap, Daniel S Grosser, Daniel A Hale, Benjamin J Lang, Peter Colley, Raul Benavides, Neelam Dhiman
We performed a retrospective chart review of patients to determine if the Verigene Gram-negative blood culture (BC-GN) results would lead to earlier deescalation of empiric therapy for inpatients with GN bacteremia with Citrobacter spp., Enterobacter spp., Klebsiella spp., and Escherichia coli to appropriate targeted coverage. A total of 899 records were reviewed from April 2014 to February 2016 from three institutions within the Baylor Scott & White Health network. The cases were reviewed for initial antibiotic coverage, timing of Verigene results, change in antibiotic coverage, and how these changes related to the timing of Verigene results...
October 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28934986/identification-of-novel-candidate-disease-genes-from-de-novo-exonic-copy-number-variants
#19
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Zeynep Coban-Akdemir, Amber N Pursley, Sandesh C S Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G Petrie, Reuben Matalon, Lisa Emrick, Monica B Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R Roeder, Kimberly M Nugent, Patricia I Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L Kang, Seema R Lalani, Carlos A Bacino, Arthur L Beaudet, Amy M Breman, Janice L Smith, Sau Wai Cheung, James R Lupski, Ankita Patel, Chad A Shaw, Paweł Stankiewicz
BACKGROUND: Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular diagnosis for conditions with known disease-associated genes, enables better genotype-phenotype correlations, and facilitates variant allele detection allowing novel disease gene discovery. METHODS: We retrospectively analyzed data from 63,127 patients referred for clinical chromosomal microarray analysis (CMA) at Baylor Genetics laboratories, including 46,755 individuals tested using exon-targeted arrays, from 2007 to 2017...
September 21, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28927976/quality-of-life-outcomes-in-children-with-hirschsprung-disease
#20
Lucy Collins, Brennan Collis, Misel Trajanovska, Rija Khanal, John M Hutson, Warwick J Teague, Sebastian K King
BACKGROUND: Morbidity following repair of Hirschsprung disease (HD) is common. However, quality of life (QoL) results focused on HD children are contradictory. We aimed to measure QoL outcomes in HD children using validated questionnaires. METHODS: Patients with HD, managed at a large tertiary pediatric institution between 2004 and 2013, were identified. Parents completed validated questionnaires. Results were compared with published healthy population controls...
September 2, 2017: Journal of Pediatric Surgery
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