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https://www.readbyqxmd.com/read/28535585/good-laboratory-standards-for-clinical-next-generation-sequencing-cancer-panel-tests
#1
REVIEW
Jihun Kim, Woong-Yang Park, Nayoung K D Kim, Se Jin Jang, Sung-Min Chun, Chang-Ohk Sung, Jene Choi, Young-Hyeh Ko, Yoon-La Choi, Hyo Sup Shim, Jae-Kyung Won
Next-generation sequencing (NGS) has recently emerged as an essential component of personalized cancer medicine due to its high throughput and low per-base cost. However, no sufficient guidelines for implementing NGS as a clinical molecular pathology test are established in Korea. To ensure clinical grade quality without inhibiting adoption of NGS, a taskforce team assembled by the Korean Society of Pathologists developed laboratory guidelines for NGS cancer panel testing procedures and requirements for clinical implementation of NGS...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28535315/early-career-outcomes-of-family-medicine-residency-graduates-exposed-to-innovative-flexible-longitudinal-tracks
#2
Richard A Young, Dan Casey, Diana Singer, Elaine Waller, Patricia A Carney
BACKGROUND AND OBJECTIVES: The Preparing the Personal Physician for Practice (P4) project used a case series design to study innovations in the content, length, structure, and location of residency training in 14 geographically diverse family medicine programs between 2007 and 2012. We aimed to explore how offering flexible longitudinal tracks (FLT) affected graduates' scope of practice, particularly in maternal child health (MCH), which included at least 17 months of focused training that increased each year over 4 years...
May 2017: Family Medicine
https://www.readbyqxmd.com/read/28534683/transfer-from-pediatric-to-adult-endocrinology
#3
Marybeth R Jones, Brett W Robbins, Marilyn Augustine, Jackie Doyle, Jean Mack-Fogg, Heather Jones, Patience H White
OBJECTIVE: Adult and pediatric endocrinologists share responsibility for the transition of youth with type 1 diabetes from pediatric to adult healthcare. This study aimed to increase successful transfers to adult care in subspecialty practices by establishing a systematic healthcare transition (HCT) process. METHODS: Providers from the adult and pediatric endocrinology divisions at the University of Rochester Medical Center (URMC) met monthly to customize and integrate the 6 Core Elements (6CEs) of HCT into clinical workflows...
May 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28534135/automated-algorithm-for-counting-microbleeds-in-patients-with-familial-cerebral-cavernous-malformations
#4
Xiaowei Zou, Blaine L Hart, Marc Mabray, Mary R Bartlett, Wei Bian, Jeffrey Nelson, Leslie A Morrison, Charles E McCulloch, Christopher P Hess, Janine M Lupo, Helen Kim
PURPOSE: Familial cerebral cavernous malformation (CCM) patients present with multiple lesions that can grow both in number and size over time and are reliably detected on susceptibility-weighted imaging (SWI). Manual counting of lesions is arduous and subject to high variability. We aimed to develop an automated algorithm for counting CCM microbleeds (lesions <5 mm in diameter) on SWI images. METHODS: Fifty-seven familial CCM type-1 patients were included in this institutional review board-approved study...
May 22, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28533552/physical-activity-for-paediatric-rheumatic-diseases-standing-up-against-old-paradigms
#5
REVIEW
Bruno Gualano, Eloisa Bonfa, Rosa M R Pereira, Clovis A Silva
Over the past 50 years it has become clear that physical inactivity is associated with chronic disease risk. For several rheumatic diseases, bed rest was traditionally advocated as the best treatment, but several levels of evidence support the imminent paradigm shift from the prescription of bed rest to physical activity in individuals with paediatric rheumatic diseases, in particular juvenile systemic lupus erythematosus, juvenile idiopathic arthritis, juvenile fibromyalgia, and juvenile dermatomyositis. Increasing levels of physical activity can alleviate several symptoms experienced by patients with paediatric rheumatic diseases, such as low aerobic fitness, pain, fatigue, muscle weakness and poor health-related quality of life...
May 23, 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28532518/evaluation-of-myocardial-deformation-in-patients-with-kawasaki-disease-using-speckle-tracking-echocardiography-during-mid-term-follow-up-corrigendum
#6
Reyhan Dedeoglu, Kenan Barut, Funda Oztunc, Sezen Atik, Amra Adrovic, Sezgin Sahin, Dicle Cengiz, Ozgur Kasapcopur
No abstract text is available yet for this article.
May 23, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28532165/16p11-2-microduplication-and-associated-symptoms-a-case-study
#7
Martin Knoll, Kirsten Arnett, Jeremy Hertza
The minimal amount known regarding chromosomal microduplications and microdeletions presents a fascinating new direction of research into better understanding misunderstood symptoms and overall genomic influence. Specifically, the 16p11.2 microduplication has been associated with a myriad of possible cognitive, physical, and emotional symptoms. The purpose of this study is to inform the reader of the biological basis of the 16p11.2 microduplication, review sources that suggest a link between the microduplication and clinically relevant diagnoses/sources of impairment, and to better understand the implications and development of symptoms through the illustration of a case example...
May 22, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28531809/multifocal-visual-evoked-potentials-in-optic-neuritis-and-multiple-sclerosis-a-review
#8
REVIEW
Gorm Pihl-Jensen, Mathias Falck Schmidt, Jette Lautrup Frederiksen
Multifocal visual evoked potential (mf-VEP) represents a new approach to the classical full field (ff-)VEP with separate responses from up to 60 sectors of the visual field. A thorough literature survey of the use of mf-VEP in optic neuritis (ON) and multiple sclerosis (MS) is presented (38 published studies were retrieved). Mf-VEP provides direct topographical information of specific lesions and facilitates investigations on structural-functional correlations thus providing new methods for exploring the interplay between demyelination, atrophy and remyelination in MS...
April 11, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28531552/the-role-of-next-generation-sequencing-in-infection-prevention-in-human-parainfluenza-virus-3-infections-in-immunocompromised-patients
#9
Atul Kothari, Mary J Burgess, Juan Carlos Rico Crescencio, Joshua L Kennedy, Jesse L Denson, Kurt C Schwalm, Ashley N Stoner, John C Kincaid, Faith E Davies, Darrell L Dinwiddie
BACKGROUND: Respiratory viral infections are a significant problem in patients with hematologic malignancies. We report a cluster of HPIV 3 infections in our myeloma patients, and describe the utility of next generation sequencing (NGS) to identify transmission linkages which can assist in infection prevention. OBJECTIVES: To evaluate the utility of NGS to track respiratory viral infection outbreaks and delineate between community acquired and nosocomial infections in our cancer units...
May 12, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28531338/placental-exosomes-as-early-biomarker-of-preeclampsia-potential-role-of-exosomal-micrornas-across-gestation
#10
Carlos Salomon, Dominic Guanzon, Katherin Scholz-Romero, Sherri Longo, Paula Correa, Sebastian E Illanes, Gregory E Rice
Context: There is a need to develop strategies for early prediction of patients who will develop preeclampsia (PE), in order to establish preventive strategies to reduce the prevalence and severity of the disease and their associated complications. Objective: The objective of this study was to investigate whether exosomes and their microRNA cargo present in maternal circulation can be used as early biomarker for PE. Design, Setting, Patients, and Interventions: A retrospective stratified study design was used to quantify total exosomes (EXO) and placenta-derived exosomes (PdE) present in maternal plasma of normal (n=32 per time point) and PE (n=15 per time point) pregnancies...
May 22, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28530037/where-do-hiv-infected-adolescents-go-after-transfer-tracking-transition-transfer-of-hiv-infected-adolescents-using-linkage-of-cohort-data-to-a-health-information-system-platform
#11
Mary-Ann Davies, Priscilla Tsondai, Nicki Tiffin, Brian Eley, Helena Rabie, Jonathan Euvrard, Catherine Orrell, Hans Prozesky, Robin Wood, Dolphina Cogill, Andreas D Haas, Annette H Sohn, Andrew Boulle
INTRODUCTION: To evaluate long-term outcomes in HIV-infected adolescents, it is important to identify ways of tracking outcomes after transfer to a different health facility. The Department of Health (DoH) in the Western Cape Province (WCP) of South Africa uses a single unique identifier for all patients across the health service platform. We examined adolescent outcomes after transfer by linking data from four International epidemiology Databases to Evaluate AIDS Southern Africa (IeDEA-SA) cohorts in the WCP with DoH data...
May 16, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28529807/a-novel-modified-reverse-controlled-antegrade-and-retrograde-subintimal-tracking-technique-for-bypassing-the-calcified-proximal-cap-of-coronary-total-occlusions
#12
Tsuyoshi Isawa, Masahiko Ochiai, Masato Munehisa, Tatsushi Ootomo
Antegrade crossing is the most common approach to chronic total occlusions (CTOs). However, it is sometimes difficult to penetrate the proximal hard cap with guidewires, especially in the case of CTOs of anomalous coronary arteries because of a lack of support. Herein, we describe a novel, modified reverse controlled antegrade and retrograde subintimal tracking (CART) technique in which the dissection reentry was intentionally created in the proximal segment of the vessel, not within the occluded segment, using retrograde guidewire and the aid of an antegrade balloon...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28529420/long-pulsed-nd-yag-laser-and-intense-pulse-light-755-nm-for-idiopathic-facial-hirsutism-a-comparative-study
#13
Arpit Shrimal, Souvik Sardar, Soumyajit Roychoudhury, Somenath Sarkar
BACKGROUND: Hirsutism means excessive terminal hair growth in a female in male pattern distribution. Perception of hirsutism is subjective. Permanent laser hair reduction is a slow process taking many sessions and tracking of improvement parameters is tedious. Hence, a lot of confusion still exists regarding the type of laser most beneficial for treatment. AIM: The aim of this study was to compare the effectiveness and safety profile of long-pulsed Nd: YAG laser (1064 nm) and intense pulse light (IPL)-755 nm in management of idiopathic facial hirsutism...
January 2017: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/28529195/rapid-web-based-platform-for-assessment-of-orthopedic-surgery-patient-care-milestones-a-2-year-validation
#14
Kenneth R Gundle, Dayne T Mickelson, Arien Cherones, Jason Black, Doug P Hanel
OBJECTIVE: To determine the validity, feasibility, and responsiveness of a new web-based platform for rapid milestone-based evaluations of orthopedic surgery residents. SETTING: Single academic medical center, including a trauma center and pediatrics tertiary hospital. PARTICIPANTS: Forty residents (PG1-5) in an orthopedic residency program and their faculty evaluators. METHODS: Residents and faculty were trained and supported in the use of a novel trainee-initiated web-based evaluation system...
May 18, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28528995/the-usefulness-of-global-left-atrial-strain-for-predicting-atrial-fibrillation-recurrence-after-catheter-ablation-in-patients-with-persistent-and-paroxysmal-atrial-fibrillation
#15
Xin-Xin Ma, Yue-Li Zhang, Bing Hu, Meng-Ruo Zhu, Wen-Jun Jiang, Man Wang, Dong-Yan Zheng, Xiao-Pei Xue
BACKGROUND: Given the potential complications of atrial fibrillation (AF) recurrence after ablation, better predictors of the effectiveness of the procedure are necessary to guide patient selection. AIM: This prospective study was conducted to evaluate the clinical relevance of global left atrial longitudinal strain (GLAS) and AF recurrence after catheter ablation. METHODS: In 115 consecutive patients with AF (persistent, n=62; paroxysmal, n=53), transthoracic echocardiography was performed before catheter ablation to assess baseline left atrial mechanical function using speckle tracking echocardiography (STE)...
May 18, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28528586/white-matter-connectivity-disruptions-in-early-and-chronic-schizophrenia
#16
M A Di Biase, V L Cropley, B T Baune, J Olver, G P Amminger, C Phassouliotis, C Bousman, P D McGorry, I Everall, C Pantelis, A Zalesky
BACKGROUND: White matter disruptions in schizophrenia have been widely reported, but it remains unclear whether these abnormalities differ between illness stages. We mapped the connectome in patients with recently diagnosed and chronic schizophrenia and investigated the extent and overlap of white matter connectivity disruptions between these illness stages. METHODS: Diffusion-weighted magnetic resonance images were acquired in recent-onset (n = 19) and chronic patients (n = 45) with schizophrenia, as well as age-matched controls (n = 87)...
May 22, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28528237/skin-deformation-during-shoulder-movements-and-upper-extremity-activities
#17
Weiqing Ge, Alison Sfara, Brittany Hians
BACKGROUND: The necessity of sternal precautions for patients following cardiac surgery with median sternotomy has been questioned by clinicians, researchers, and even patients. The primary purpose was to determine if sternal skin deformation during shoulder movements and upper extremity activities is compressive or distractive and if there are any significant differences between the skin deformation at different positions during shoulder movements and upper extremity activities. The secondary purpose was to determine if sternal skin deformation is correlated with scapular stabilizer muscle strength...
May 12, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#18
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28528162/intervendor-differences-in-the-accuracy%C3%A2-of%C3%A2-detecting-regional-functional%C3%A2-abnormalities-a-report-from-the-eacvi-ase-strain-standardization-task%C3%A2-force
#19
Oana Mirea, Efstathios D Pagourelias, Jurgen Duchenne, Jan Bogaert, James D Thomas, Luigi P Badano, Jens-Uwe Voigt
OBJECTIVES: The purpose of this study was to compare the accuracy of vendor-specific and independent strain analysis tools to detect regional myocardial function abnormality in a clinical setting. BACKGROUND: Speckle tracking echocardiography has been considered a promising tool for the quantitative assessment of regional myocardial function. However, the potential differences among speckle tracking software with regard to their accuracy in identifying regional abnormality has not been studied extensively...
May 11, 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28528161/functional-implication-of-mitral-annular-disjunction-in-mitral-valve-prolapse-a-quantitative-dynamic-3d-echocardiographic%C3%A2-study
#20
Alex Pui-Wai Lee, Chun-Na Jin, Yiting Fan, Randolph H L Wong, Malcolm J Underwood, Song Wan
OBJECTIVES: This study aimed to assess the hypothesis that mitral annular disjunction (MAD) is associated with abnormal annular dynamics due to decoupling of annular-ventricular function. BACKGROUND: MAD, defined as a separation between the atrial wall-mitral valve (MV) junction and left ventricular (LV) attachment, is a structural abnormality occurring in MV prolapse (MVP). Few data exist on the 3-dimensional (3D) geometry of MAD and its functional implication...
May 11, 2017: JACC. Cardiovascular Imaging
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