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https://www.readbyqxmd.com/read/29656758/feasibility-of-endobronchial-ultrasound-transbronchial-needle-aspiration-for-massively-parallel-next-generation-sequencing-in-thoracic-cancer-patients
#1
Simon R Turner, Darren Buonocore, Patrice Desmeules, Natasha Rekhtman, Snjezana Dogan, Oscar Lin, Maria E Arcila, David R Jones, James Huang
INTRODUCTION: Next-generation sequencing (NGS) allows for the identification of a growing number of therapeutic and prognostic molecular targets. However, NGS typically requires greater quantities of DNA than traditional molecular testing does. Endobronchial ultrasound transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive procedure used to sample central thoracic lesions, but it is not well established whether this technique provides sufficient material for NGS. METHODS: We performed a retrospective review of EBUS-TBNA at our institution (3/1/14-9/28/16)...
May 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29615459/genetic-analysis-of-779-advanced-differentiated-and-anaplastic-thyroid-cancers
#2
Nikita Pozdeyev, Laurie Gay, Ethan S Sokol, Ryan J Hartmaier, Kelsi E Deaver, Stephanie N Davis, Jena D French, Pierre Vanden Borre, Daniel V LaBarbera, Aik-Choon Tan, Rebecca E Schweppe, Lauren Fishbein, Jeffrey S Ross, Bryan R Haugen, Daniel W Bowles
PURPOSE: To define the genetic landscape of advanced differentiated and anaplastic thyroid cancer and identify genetic alterations of potential diagnostic, prognostic and therapeutic significance. EXPERIMENTAL DESIGN: The genetic profiles of 583 advanced differentiated and 196 anaplastic thyroid cancers (ATC) generated with targeted next-generation sequencing cancer-associated gene panels MSK-IMPACT and FoundationOne were analyzed. RESULTS: ATC had more genetic alterations per tumor, and pediatric papillary thyroid cancer had fewer genetic alterations per tumor when compared to other thyroid cancer types...
April 3, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29610937/paediatric-musculoskeletal-disease-in-kumi-district-uganda-a-cross-sectional-survey
#3
Kristin Alves, Norgrove Penny, Olive Kobusingye, Robert Olupot, Jeffrey N Katz, Coleen S Sabatini
PURPOSE: The purpose of this study is to estimate the burden of musculoskeletal disease among children treated in Kumi District, Uganda, to inform training, capacity-building efforts, and resource allocation. METHODS: We conducted a retrospective cohort study by reviewing the musculoskeletal (MSK) clinic and community outreach logs for children (age < 18 years) seen at Kumi Hospital in Kumi, Uganda, between January 2013 and December 2015. For each patient, we recorded the age, sex, diagnosis, and treatment recommendation...
April 2, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/29540405/new-episodes-of-musculoskeletal-conditions-among-employed-people-in-norway-sickness-certification-and-return-to-work-a-multiregister-based-cohort-study-from-primary-care
#4
Sturla Gjesdal, Tor Helge Holmaas, Karin Monstad, Øystein Hetlevik
OBJECTIVES: To identify new cases of musculoskeletal (MSK) disorders among employed people presenting in Norwegian primary care in 2012, frequency of sickness certification and length of sick leave. To identify patient-, diagnosis- and GP-related predictors of sickness certification, prolonged sick leave and return to work (RTW). METHODS: An observational multiregister-based cohort study covering all employed persons in Norway(1 176 681 women and 1 330 082 men) based on claims data from all regular GPs merged with individual sociodemographic data from public registers was performed...
March 14, 2018: BMJ Open
https://www.readbyqxmd.com/read/29468561/chronic-pain-in-medullary-sponge-kidney-a-rare-and-never-described-clinical-presentation
#5
G Gambaro, D S Goldfarb, R Baccaro, J Hirsch, N Topilow, S D'Alonzo, G Gambassi, P M Ferraro
Medullary sponge kidney (MSK) is a cause of nephrocalcinosis, associated with hematuria, renal colic, pyelonephritis. There are rare and atypical MSK cases characterized by chronic severe pain (CP), whose features are unknown, in particular the relationship with the stone disease activity. This study analyzes a cohort of MSK-CP patients belonging to three North-America self-support Facebook groups. Patients had to self-administer an on-line questionnaire (on intensity, progression and MSK-associated conditions, stone-related disease, pain features, drug use), the Brief Pain Inventory, the Fatigue Severity Score, and Wisconsin Quality of Life (WQL) in stone formers questionnaires...
February 21, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29339205/agreement-of-musculoskeletal-ultrasound-and-clinical-assessment-of-shoulder-impairment-in-manual-wheelchair-users-with-various-duration-of-spinal-cord-injury
#6
Margaret Finley, David Ebaugh, Thomas Trojian
OBJECTIVES: To determine (1) agreement of musculoskeletal ultrasound (MSK-US) findings of shoulder pathology and related shoulder special test results in individuals with varied durations of manual wheelchair (MWC) use after spinal cord injury (SCI); and (2) whether shoulder musculoskeletal impairments, per MSK-US and clinical examination, differed in individuals with SCI and varying durations of MWC use. DESIGN: Cross-sectional cohort study. SETTING: Laboratory setting...
April 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29169299/the-changing-case-mix-of-hip-fractures-in-scotland-evidence-from-the-scottish-hip-fracture-audit
#7
Stephen D Hannah, K B Ferguson, R Smith, J Hutchison, G Holt
Until discontinued in 2008, the Scottish Hip Fracture Audit collected and reported on data relating to the quality of care of hip fracture patients in Scotland. In 2013, the audit was recommenced under the umbrella of the MSK Audit group, which audits high volume orthopaedic pathways across Scotland. Our aim is to report on the changes in the demographics of hip fracture patients in Scotland between 2003 and 2013. There was an increase in the proportion of male patients from 2003 to 2013 (22.4% to 29.5%; p < 0...
November 2017: Scottish Medical Journal
https://www.readbyqxmd.com/read/29146616/therapeutic-potential-of-afatinib-for-cancers-with-erbb2-her2-transmembrane-domain-mutations-g660d-and-v659e
#8
Hiromasa Yamamoto, Shinichi Toyooka, Takashi Ninomiya, Shigemi Matsumoto, Masashi Kanai, Shuta Tomida, Katsuyuki Kiura, Manabu Muto, Ken Suzawa, Patrice Desmeules, Mark G Kris, Bob T Li, Marc Ladanyi
We previously reported on a family with hereditary lung cancer, in which a germline mutation in the transmembrane domain (G660D) of avian erythroblastic leukemia viral oncogene homolog 2 (erb-b2 receptor tyrosine kinase 2) (ERBB2; human epidermal growth factor receptor 2 [HER2]) seemed to be responsible for the cancer predisposition. Although few data are available on treatment, anti-ERBB2 therapeutic agents may be effective for ERBB2-mutant cancers. The familial lung cancer patient in one of the authors' institutes developed bone metastasis with enlarging lung tumors and was treated with the ERBB2 inhibitor afatinib...
November 16, 2017: Oncologist
https://www.readbyqxmd.com/read/29127119/rasa1-and-nf1-are-preferentially-co-mutated-and-define-a-distinct-genetic-subset-of-smokingassociated-non-small-cell-lung-carcinomas-sensitive-to-mek-inhibition
#9
Takuo Hayashi, Patrice Desmeules, Roger S Smith, Alexander Drilon, Romel Somwar, Marc Ladanyi
PURPOSE: Ras-GTPase activating proteins (RasGAPs), notably NF1 and RASA1, mediate negative control of the RAS/MAPK pathway. We evaluated clinical and molecular characteristics of NSCLC with RASA1 mutations in comparison with NF1-mutated cases. EXPERIMENTAL DESIGN: Large genomic datasets of NSCLC [MSK-IMPACT™ dataset at MSKCC (n=2004), TCGA combined lung cancer dataset (n=1144)] were analyzed to define concurrent mutations and clinical features of RASA1-mutated NSCLCs...
November 10, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29113426/activating-mutation-of-pdgfrb-gene-in-a-rare-cardiac-undifferentiated-intimal-sarcoma-of-the-left-atrium-a-case-report
#10
Xiaoling Fu, Weixin Niu, Ji Li, Amber J Kiliti, Hikmat A Al-Ahmadie, Gopa Iyer, Sizhi Paul Gao, Qi Li
Cardiac sarcoma is a rare malignant tumor with undefined genetic mutations and no targeted therapy. Here in one rare case of undifferentiated cardiac intimal sarcoma (IS), a next-generation sequencing based assay, MSK-IMPACT (Memorial Sloan Kettering - Integrated Mutation Profiling of Actionable Cancer Targets), identified a somatic, activating mutation in PDGFRB , along with amplification of PDGFRA . This E472D mutation of PDGFRB was discovered for the first time in IS. These findings suggest that concurrent aberrant PDGFRA and PDGFRB signaling may be a diagnostic biomarker and molecular therapeutic target of IS of the heart...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28964511/the-nature-and-burden-of-occupational-injury-among-first-responder-occupations-a-retrospective-cohort-study-in-australian-workers
#11
Shannon E Gray, Alex Collie
INTRODUCTION: Workers in first responder (FR) occupations are at heightened risk for workplace injury given their exposure to physical/psychological hazards. This study sought to (1) characterise the occupational risk of injury; (2) determine factors associated with injury; and (3) characterise the burden of injury-related disability in police, ambulance officers, fire/emergency workers, compared with other occupations. METHODS: A retrospective cohort of 2,439,624 claims occurring between July 2003 and June 2012 was extracted from the Australian National Dataset for Compensation-Based Statistics...
November 2017: Injury
https://www.readbyqxmd.com/read/28911072/oncologist-use-and-perception-of-large-panel-next-generation-tumor-sequencing
#12
A M Schram, D Reales, J Galle, R Cambria, R Durany, D Feldman, E Sherman, J Rosenberg, G D'Andrea, S Baxi, Y Janjigian, W Tap, M Dickler, J Baselga, B S Taylor, D Chakravarty, J Gao, N Schultz, D B Solit, M F Berger, D M Hyman
Background: Genomic profiling is increasingly incorporated into oncology research and the clinical care of cancer patients. We sought to determine physician perception and use of enterprise-scale clinical sequencing at our center, including whether testing changed management and the reasoning behind this decision-making. Patients and methods: All physicians who consented patients to MSK-IMPACT, a next-generation hybridization capture assay, in tumor types where molecular profiling is not routinely performed were asked to complete a questionnaire for each patient...
September 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28906125/imaging-of-rare-appendicular-non-acral-soft-tissue-chondromas-in-adults-with-histopathologic-correlation
#13
Mohamed Ragab Nouh, Hanan Abd El-Aziz Amr, Rola H Ali
Background Soft-tissue chondroma (STC) is a rare benign soft tissue tumor that arises primarily in acral extra-skeletal locations. Occasionally, STCs may arise in more proximal non-acral locations, accompanied by non-classic features that label them as indeterminate lesions and pose diagnostic challenge for both radiologists and pathologists alike. Purpose To explicate the potential of diagnostic imaging in the identification and characterization of appendicular non-acral STCs with emphasis on their morphologic magnetic resonance imaging (MRI) enhancement...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28823067/combined-classical-spindle-cell-pleomorphic-lipoma-spectrum-imaging-and-clinical-data
#14
Yara Younan, Anthony Martinez, Nickolas Reimer, Mark Edgar, Felix Gonzalez, Monica Umpierrez, Ty Subhawong, Adam D Singer
OBJECTIVES: Compile the largest study to date on the imaging and clinical features of the classic spindle cell/pleomorphic lipoma spectrum and suggest this diagnosis be included in the differential for benign and malignant macroscopic fat-containing soft tissue masses regardless of the mass location or patient demographics. MATERIALS AND METHODS: An institutional search was performed to identify all available classic-type spindle cell/pleomorphic lipomas with available demographic and imaging data...
January 2018: Skeletal Radiology
https://www.readbyqxmd.com/read/28814015/postoperative-healing-patterns-in-elbow-using-electromyography-towards-the-development-of-a-wearable-mechatronic-elbow-brace
#15
Raneem Haddara, Yue Zhou, Shrikant Chinchalkar, Ana Luisa Trejos
Musculoskeletal (MSK) conditions are the most common cause of severe long-term pain and physical disability. Current postoperative treatment for patients requires them to follow a long-term physiotherapy program customized for each specific case; however, this process can be complex, time-consuming and without the right therapy it may end up being ineffective. A possible solution involves the development of wearable mechatronic elbow braces that use electromyography (EMG) to identify patient intent. However, EMG characteristics change based on the health of the individual and therefore require further investigation...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28781262/-correction-of-the-electrophoretic-shift-in-virtual-2d-sds-page-electrophoresis
#16
V S Skvortsov, N N Alekseychuk, A V Rybina
Virtual electrophoresis in proteomics can be used to search localization of proteins and their proteoforms (especially those existing in low concentrations), to identify proteoforms found in experiments etc. Although the problem of predicting the isoelectric point is well studied, the need of electrophoretic shift correction is usually ignored. Researchers simply use the brutto molecular weight of the protein. In this study four data sets taken from the literature sources and the SWISS-2DPAGE database have been used to build correction equations for prediction of the electrophoretic shift (123, 72, 118 and 470 points, respectively)...
May 2017: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
https://www.readbyqxmd.com/read/28720423/undergraduate-clinical-teaching-in-orthopedic-surgery-a-randomized-control-trial-comparing-the-effect-of-case-based-teaching-and-bedside-teaching-on-musculoskeletal-osce-performance
#17
Martin Kelly, Iain Feeley, Fiona Boland, John M O'Byrne
INTRODUCTION: Musculoskeletal (MSK) complaints are the second most common reason for a hospital outpatient appointment in the US, and account for 19.5% of general practice consultations. Previous studies have shown that passive teaching in medical school does not imbue students with an adequate degree of confidence in MSK evaluation. The aim of this study was to conduct a randomized control trial to compare the effect of the gold standard small group tutorial of bedside teaching against case-based teaching (CBT) in relation to orthopedic surgery in medical students...
July 15, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28719467/pan-trk-immunohistochemistry-is-an-efficient-and-reliable-screen-for-the-detection-of-ntrk-fusions
#18
Jaclyn F Hechtman, Ryma Benayed, David M Hyman, Alexander Drilon, Ahmet Zehir, Denise Frosina, Maria E Arcila, Snjezana Dogan, David S Klimstra, Marc Ladanyi, Achim A Jungbluth
Activating neurotrophic tyrosine receptor kinase (NTRK) fusions, typically detected using nucleic-acid based assays, are highly targetable and define certain tumors. Here, we explore the utility of pan-TRK immunohistochemistry (IHC) to detect NTRK fusions. NTRK rearrangements were detected prospectively using MSK-IMPACT, a DNA-based next-generation sequencing assay. Transcription of novel NTRK rearrangements into potentially functional fusion transcripts was assessed via Archer Dx fusion assay. Pan-Trk IHC testing with mAb EPR17341 was performed on all NTRK rearranged cases and 20 cases negative for NTRK fusions on Archer...
November 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28707535/anatomical-and-mr-correlative-study-of-the-proximal-sciatic-nerve-vasculature
#19
Neal Larkman, Guillaume Lefebvre, Thibault Jacques, Xavier Demondion, Hervé Cotten, Anne Cotten
OBJECTIVE: The aim of our study is to demonstrate that increased T2 signal on MRI could be due to intraneural vessels in asymptomatic individuals, and may therefore be a normal finding. METHODS: An initial anatomic cadaveric study was undertaken to gain a better understanding of the vascular supply of the proximal sciatic nerve. Secondly, a retrospective study of MR imaging of patients without sciatic symptoms was performed to assess the prevalence of intraneural vessels, defined as hyperintensity on at least three consecutive slices on both T2 and gadolinium enhanced T1 weighted imaging, visible on routine MSK pelvic imaging...
August 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28687168/evidence-based-anatomical-review-areas-derived-from-systematic-analysis-of-cases-from-a-radiological-departmental-discrepancy-meeting
#20
S C Chin, J R Weir-McCall, P M Yeap, R D White, M J Budak, G Duncan, T B Oliver, I A Zealley
AIM: To produce short checklists of specific anatomical review sites for different regions of the body based on the frequency of radiological errors reviewed at radiology discrepancy meetings, thereby creating "evidence-based" review areas for radiology reporting. MATERIALS AND METHODS: A single centre discrepancy database was retrospectively reviewed from a 5-year period. All errors were classified by type, modality, body system, and specific anatomical location...
October 2017: Clinical Radiology
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