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https://www.readbyqxmd.com/read/28635949/non-coding-variants-contribute-to-the-clinical-heterogeneity-of-ttr-amyloidosis
#1
Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635617/the-dosimetric-impact-of-gadolinium-based-contrast-media-in-gbm-brain-patient-plans-for-a-mri-linac
#2
Syed Bilal Ahmad, Moti Raj Paudel, Arman Sarfehnia, Anthony Kim, Geordi Pang, Mark Ruschin, Arjun Sahgal, Brian M Keller
Dosimetric effects of gadolinium based contrast media (Gadovist) were evaluated for the Elekta MRI Linear accelerator (MRL) using the research version of Monaco treatment planning system (TPS). In order to represent a gadolinium uptake it was manually assigned to a phantom as well as to the Gross Tumour Volume (GTV) of 6 Glioblastoma Multiforme (GBM) patients. A preliminary estimate of dose enhancement, due to gadolinium, was performed using the phantom irradiated with a single beam. More complicated assessment was performed for the GBM patients using a 7 field IMRT technique...
June 21, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28635564/arthroscopic-fixation-of-acute-acromioclavicular-joint-disruption-with-tightrope%C3%A2-outcome-and-complications-after-minimum-2-2-5-years-follow-up
#3
Li-Feng Zhang, Bo Yin, Su Hou, Bing Han, De-Fa Huang
PURPOSE: To evaluate the midterm results of arthroscopic reconstruction of acute acromioclavicular (AC) joint disruption using TightRope™ system. METHODS AND MATERIAL: We retrospectively assess the results of 24 patients of acute AC joint dislocation who were operated using TightRope system. Constant and University of California, Los Angeles (UCLA) scores and coracoclavicular distance were calculated pre- and postoperatively. Data was entered into MS excel and analyzed using the SPSS version 17...
May 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28635463/an-overview-of-the-evidence-based-practice-process-for-novice-researchers
#4
Emma Rowles, Amanda McNaughton
This article explores how nurses can use evidence-based practice to critique and evaluate the rationale and evidence for specific nursing procedures or practices. Through the development of a focused research question and search strategy, nurses can select and critique relevant research articles to answer the research question, which can support the provision of optimal practice and high-quality care. This article demonstrates the process of evidence-based practice, with the aim of increasing novice researchers' confidence in applying this process in practice...
June 21, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28635338/risk-of-stroke-systemic-embolism-major-bleeding-and-associated-costs-in-non-valvular-atrial-fibrillation-patients-who-initiated-apixaban-dabigatran-or-rivaroxaban-compared-with-warfarin-in-the-united-states-medicare-population
#5
Alpesh Amin, Allison Keshishian, Jeffrey Trocio, Oluwaseyi Dina, Hannah Le, Lisa Rosenblatt, Xianchen Liu, Jack Mardekian, Qisu Zhang, Onur Baser, Lien Vo
OBJECTIVE: To compare the risk and cost of stroke/systemic embolism (SE) and major bleeding between each direct oral anticoagulant (DOAC) and warfarin among non-valvular atrial fibrillation (NVAF) patients. METHODS: Patients (≥65 years) initiating warfarin or DOACs (apixaban, rivaroxaban, and dabigatran) were selected from the Medicare database from 01/01/2013-12/31/2014. Patients initiating each DOAC were matched 1:1 to warfarin patients using propensity score matching to balance demographics and clinical characteristics...
June 21, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28634632/can-a-virtual-reality-surgical-simulation-training-provide-a-self-driven-and-mentor-free-skills-learning-investigation-of-the-practical-influence-of-the-performance-metrics-from-the-virtual-reality-robotic-surgery-simulator-on-the-skill-learning-and-associated
#6
Gyusung I Lee, Mija R Lee
BACKGROUND: While it is often claimed that virtual reality (VR) training system can offer self-directed and mentor-free skill learning using the system's performance metrics (PM), no studies have yet provided evidence-based confirmation. This experimental study investigated what extent to which trainees achieved their self-learning with a current VR simulator and whether additional mentoring improved skill learning, skill transfer and cognitive workloads in robotic surgery simulation training...
June 20, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28634503/monitoring-the-diagnostic-process-on-an-inpatient-neurology-service
#7
Amar Dhand, Robert Bucelli, Arun Varadhachary, Michael Tsiaklides, Gabriela de Bruin, Gurpreet Dhaliwal
The Institute of Medicine report Improving Diagnosis in Health Care called for tools to monitor physicians' diagnostic process. We addressed this need by developing a tool for clinicians to record and analyze their diagnostic process. The tool was a secure web application in which clinicians used a structured grading system to assess the relative impact of clinical, laboratory, and neuroimaging data for every new diagnosis. Four neurohospitalists used the tool for 6.5 months on a general neurology ward service at a single tertiary-level teaching hospital...
July 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28634156/classifying-chinese-questions-related-to-health-care-posted-by-consumers-via-the-internet
#8
Haihong Guo, Xu Na, Li Hou, Jiao Li
BACKGROUND: In question answering (QA) system development, question classification is crucial for identifying information needs and improving the accuracy of returned answers. Although the questions are domain-specific, they are asked by non-professionals, making the question classification task more challenging. OBJECTIVE: This study aimed to classify health care-related questions posted by the general public (Chinese speakers) on the Internet. METHODS: A topic-based classification schema for health-related questions was built by manually annotating randomly selected questions...
June 20, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28634006/testosterone-differentially-affects-t-cells-and-neurons-in-murine-and-human-models-of-neuroinflammation-and-neurodegeneration
#9
Megan G Massa, Christina David, Stefanie Jörg, Johannes Berg, Barbara Gisevius, Sarah Hirschberg, Ralf A Linker, Ralf Gold, Aiden Haghikia
The high female-to-male sex ratio of multiple sclerosis (MS) prevalence has continuously confounded researchers, especially in light of male patients' accelerated disease course at later stages of MS. Although multiple studies have concentrated on estrogenic mechanisms of disease modulation, fairly little attention has been paid to androgenic effects in a female system, and even fewer studies have attempted to dissociate hormonal effects on the neurodegenerative and neuroinflammatory processes of MS. Herein, we demonstrate the differential effects of hormone treatment on the acute inflammatory and chronic neurodegenerative phases of murine experimental autoimmune encephalomyelitis...
July 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28633903/internal-validation-of-a-scoring-system-to-evaluate-the-probability-of-ureteral-stones-the-chokai-score
#10
Hiroki Fukuhara, Osamu Ichiyanagi, Shinichi Midorikawa, Hiroshi Kakizaki, Hisashi Kaneko, Norihiko Tsuchiya
OBJECTIVE: The CHOKAI and STONE scores are prediction models for ureteral stones. The aims of the present study were to evaluate the diagnostic performance, to examine the optimal cut-off value, and to compare the diagnostic performance of each model. METHODS: Patients who presented to our emergency department with renal colic were considered for this prospective study. We analyzed the predictive performance of both STONE and CHOKAI scores at their optimal cut-off values, using receiver operating characteristic (ROC) curve and area under the curve (AUC), as well as sensitivity, specificity, positive likelihood ratio (LR+), and negative likelihood ratio (LR-) at the optimal cut-off value...
June 13, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28633793/treatment-of-a-focal-articular-cartilage-defect-of-the-talus-with-polymer-based-autologous-chondrocyte-implantation-a-12-year-follow-up-period
#11
Peter Cornelius Kreuz, Richard Horst Kalkreuth, Philipp Niemeyer, Markus Uhl, Christoph Erggelet
Autologous chondrocyte implantation (ACI) is a first-line treatment option for large articular cartilage defects. Although well-established for cartilage defects in the knee, studies of the long-term outcomes of matrix-assisted ACI to treat cartilage defects in the ankle are rare. In the present report, we describe for the first time the long-term clinical and radiologic results 12 years after polymer-based matrix-assisted ACI treat a full-thickness talar cartilage defect in a 25-year-old male patient. The clinical outcome was assessed using the visual analog scale and Freiburg ankle score, magnetic resonance imaging evaluation using the Henderson-Kreuz scoring system and T2 mapping...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633772/omnidirectional-internal-fixation-by-double-approaches-for-treating-r%C3%A3-edi-allg%C3%A3-wer-type-iii-pilon-fractures
#12
Chong-Hua Dai, Jun Sun, Kun-Quan Chen, Hui-Bo Zhang
In the present study, we explored the effectiveness and complications of omnidirectional internal fixation using a double approach for treating Rüedi-Allgöwer type III pilon fractures. A retrospective analysis was performed of 19 cases of Rüedi-Allgöwer type III unilateral closed pilon fracture. With preoperative preparation and correct surgical timing, the reduction was performed using anteromedial and posterolateral approaches, and the fracture fragments were fixed by omnidirectional internal fixation...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633682/effect-of-space-allowance-and-floor-type-on-performance-welfare-and-physiological-measurements-of-finishing-beef-heifers
#13
M P Keane, M McGee, E G O'Riordan, A K Kelly, B Earley
Accommodating cattle indoors during the winter is widely practiced throughout Europe. There is currently no legislation surrounding the space allowance and floor type that should be provided to cattle during this time, however, concerns have been raised regarding the type of housing systems currently in use. The objective of the study was to investigate the effect of space allowance and floor type on performance and welfare of finishing beef heifers. Continental crossbred heifers (n=240: mean initial live; weight, 504 (SD 35...
June 21, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28633671/preliminary-safety-and-efficacy-profile-of-prucalopride-in-the-treatment-of-systemic-sclerosis-ssc-related-intestinal-involvement-results-from-the-open-label-cross-over-progass-study
#14
Barbara Vigone, Monica Caronni, Adriana Severino, Chiara Bellocchi, Anna Rita Baldassarri, Mirella Fraquelli, Gaia Montanelli, Alessandro Santaniello, Lorenzo Beretta
BACKGROUND: Prokinetics are used to treat enteric dismotility symptoms in systemic sclerosis (SSc) patients, but they often lack adequate efficacy. The most effective prokinetics belonging to the serotonin (5-HT4) receptor agonists class were withdrawn due to cardiac toxicity in relation to modest 5-HT4 receptor affinity. Prucalopride is a high-affinity 5-HT4 receptor agonist with no major cardiac issues, for which the efficacy in SSc has not yet been assessed. METHODS: Forty patients with self-reported mild to moderately severe enteric symptoms were enrolled in a cross-over 2 × 2 study...
June 20, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28633634/the-development-and-appraisal-of-a-tool-designed-to-find-patients-harmed-by-falsely-labelled-falsified-counterfeit-medicines
#15
Marija Anđelković, Einar Björnsson, Virgilio De Bono, Nenad Dikić, Katleen Devue, Daniel Ferlin, Miroslav Hanževački, Freyja Jónsdóttir, Mkrtich Shakaryan, Sabine Walser
BACKGROUND: Falsely labelled, falsified (counterfeit) medicines (FFCm's) are produced or distributed illegally and can harm patients. Although the occurrence of FFCm's is increasing in Europe, harm is rarely reported. The European Directorate for the Quality of Medicines & Health-Care (EDQM) has therefore coordinated the development and validation of a screening tool. METHODS: The tool consists of a questionnaire referring to a watch-list of FFCm's identified in Europe, including symptoms of their use and individual risk factors, and a scoring form...
June 20, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28633511/cardiovascular-risk-at-health-checks-performed-opportunistically-or-following-an-invitation-letter-cohort-study
#16
Martin C Gulliford, Bernadette Khoshaba, Lisa McDermott, Victoria Cornelius, Mark Ashworth, Frances Fuller, Jane Miller, Hiten Dodhia, Alison J Wright
Background: A population-based programme of health checks has been established in England. Participants receive postal invitations through a population-based call-recall system but health check providers may also offer health checks opportunistically. We compared cardiovascular risk scores for 'invited' and 'opportunistic' health checks. Methods: Cohort study of all health checks completed at 18 general practices from July 2013 to June 2015. For each general practice, cardiovascular (CVD) risk scores were compared by source of check and pooled using meta-analysis...
June 17, 2017: Journal of Public Health
https://www.readbyqxmd.com/read/28633175/the-marshall-family-medicine-residency-twintern-schedule-the-impact-of-an-innovative-hospital-coverage-scheme-on-resident-fatigue
#17
Adam Franks, Stephen M Petrany, Sydnee McElroy, Adam Alley
BACKGROUND AND OBJECTIVES: Work hour restriction has strained the balance between resident service and education. Night Float (NF) rotations are a popular answer to managing this balance but weakens continuity, an essential tenant of family medicine. An innovative short call system for Marshall University's Family Medicine Hospital Service (FMHS), the twINTERN call model, was created in response. We studied the impact of this approach on resident fatigue. METHODS: Anonymous surveys assessed fatigue of the Marshall University's 2013-2014 Family Medicine intern resident class while on NF rotations (ICU, Pediatrics and Surgery) and the twINTERN call...
June 2017: Family Medicine
https://www.readbyqxmd.com/read/28632733/ponseti-method-in-the-management-of-clubfoot-under-2-years-of-age-a-systematic-review
#18
Balasankar Ganesan, Ameersing Luximon, Adel Al-Jumaily, Suchita Kothe Balasankar, Ganesh R Naik
BACKGROUND: Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children...
2017: PloS One
https://www.readbyqxmd.com/read/28632587/the-clinical-outcome-of-computer-navigated-compared-with-conventional-knee-arthroplasty-in-the-same-patients-a-prospective-randomized-double-blind-long-term-study
#19
Young-Hoo Kim, Jang-Won Park, Jun-Shik Kim
BACKGROUND: The available comparative studies of computer navigation-assisted and conventional knee arthroplasties have short-term follow-up periods. Therefore, the clinical benefits after long-term follow-up are not clear. The purposes of the current long-term study were to compare clinical outcomes, alignment of the knee components, prevalence of aseptic loosening of the components, implant survival, and complications of total knee arthroplasties performed with and without computer navigation...
June 21, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28632545/computer-assisted-minimally-invasive-transforaminal-lumbar-interbody-fusion-may-be-better-than-open-surgery-for-treating-degenerative-lumbar-disease
#20
Wei Tian, Yun-Feng Xu, Bo Liu, Ya-Jun Liu, Da He, Qiang Yuan, Zhao Lang, Xiao-Guang Han
STUDY DESIGN: This study was a retrospective review of prospectively collected clinical data. OBJECTIVE: To evaluate the clinical and radiologic outcomes of computer-assisted minimally invasive spine surgery transforaminal lumbar interbody fusion (CAMISS-TLIF) and open TLIF for the treatment of 1-level degenerative lumbar disease. SUMMARY OF BACKGROUND DATA: Minimally invasive TLIF is becoming increasingly popular; however, the limited space and high rate of hardware complications associated with this method are challenging to surgeons...
July 2017: Clinical Spine Surgery
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