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https://www.readbyqxmd.com/read/29691392/medical-relevance-of-protein-truncating-variants-across-337-205-individuals-in-the-uk-biobank-study
#1
Christopher DeBoever, Yosuke Tanigawa, Malene E Lindholm, Greg McInnes, Adam Lavertu, Erik Ingelsson, Chris Chang, Euan A Ashley, Carlos D Bustamante, Mark J Daly, Manuel A Rivas
Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. Here, we characterize the effect of 18,228 protein-truncating variants across 135 phenotypes from the UK Biobank and find 27 associations between medical phenotypes and protein-truncating variants in genes outside the major histocompatibility complex. We perform phenome-wide analyses and directly measure the effect in homozygous carriers, commonly referred to as "human knockouts," across medical phenotypes for genes implicated as being protective against disease or associated with at least one phenotype in our study...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29691110/what-you-see-is-how-you-communicate-medical-students-meaning-making-of-a-patient-s-vignette
#2
Orit Karnieli-Miller, Keren Michael, Shmuel Eidelman, Dafna Meitar
OBJECTIVES: To examine how medical students notice issues in a vignette and construct their meaning, and how this construction influences their plan to communicate with the patient. METHODS: Following a breaking bad news course for 112 senior medical students, we qualitatively analyzed the participants' written descriptions of the issues they noticed as requiring special attention, using an Immersion/Crystallization iterative consensus process. RESULTS: Different students noticed different issues, but no-one noticed all 19 planted issues (Mean of issues noticed by students = 6...
April 10, 2018: Patient Education and Counseling
https://www.readbyqxmd.com/read/29690793/clinical-implementation-of-pharmacogenetic-decision-support-tools-for-antidepressant-drug-prescribing
#3
Zane Zeier, Linda L Carpenter, Ned H Kalin, Carolyn I Rodriguez, William M McDonald, Alik S Widge, Charles B Nemeroff
The accrual and analysis of genomic sequencing data have identified specific genetic variants that are associated with major depressive disorder. Moreover, substantial investigations have been devoted to identifying gene-drug interactions that affect the response to antidepressant medications by modulating their pharmacokinetic or pharmacodynamic properties. Despite these advances, individual responses to antidepressants, as well as the unpredictability of adverse side effects, leave clinicians with an imprecise prescribing strategy that often relies on trial and error...
April 25, 2018: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29689428/a-prospective-multinational-serosurveillance-study-of-bordetella-pertussis-infection-among-10-18-years-old-asian-children-and-adolescents
#4
Sohee Son, Visanu Thamlikitkul, Kulkanya Chokephaibulkit, Jennifer Perera, Kushlani Jayatilleke, Po-Ren Hsueh, Chun-Yi Lu, Veeraraghavan Balaji, Hiroyuki Moriuchi, Yumiko Nakashima, Min Lu, Yonghong Yang, Kaihu Yao, So Hyun Kim, Jae Hoon Song, Seonwoo Kim, Min-Ji Kim, Ulrich Heininger, Cheng-Hsun Chiu, Yae-Jean Kim
OBJECTIVE: Bordetella pertussis continues to cause outbreaks worldwide. To assess the role of children and adolescent in transmission of pertussis in Asia, we performed a multinational serosurveillance study. METHODS: From July 2013 to June 2016, individuals aged 10-18 years who had not received any pertussis-containing vaccine within the prior year were recruited in 10 centers in Asia. Serum anti-pertussis toxin (PT) IgG was measured by ELISA. Demographic data and medical histories were obtained...
April 21, 2018: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/29688428/interpretation-of-unnatural-death-in-coronial-law-a-review-of-the-english-legal-process-of-decision-making-statutory-interpretation-and-case-law-the-implications-for-medical-cases-and-coronial-consistency
#5
Andrew Harris, Andrew Walker
The article examines the decision-making process for medical reporting of deaths to a coroner and the statutory basis for coronial decisions whether to investigate. It analyses what is published about the consistency of decision making of coroners and discusses what should be the legal basis for determining whether a particular death is natural or unnatural in English law. There is a review of English case law, including the significance of Touche and Benton and the development of 'unnatural' as a term of art, which informs what the courts have held to be an unnatural death...
April 23, 2018: Medical Law Review
https://www.readbyqxmd.com/read/29688158/prospective-comparison-of-the-diagnostic-accuracy-of-mr-imaging-versus-ct-for-acute-appendicitis
#6
Michael D Repplinger, Perry J Pickhardt, Jessica B Robbins, Douglas R Kitchin, Tim J Ziemlewicz, Scott J Hetzel, Sean K Golden, John B Harringa, Scott B Reeder
Purpose To compare the accuracy of magnetic resonance (MR) imaging with that of computed tomography (CT) for the diagnosis of acute appendicitis in emergency department (ED) patients. Materials and Methods This was an institutional review board-approved, prospective, observational study of ED patients at an academic medical center (February 2012 to August 2014). Eligible patients were nonpregnant and 12- year-old or older patients in whom a CT study had been ordered for evaluation for appendicitis. After informed consent was obtained, CT and MR imaging (with non-contrast material-enhanced, diffusion-weighted, and intravenous contrast-enhanced sequences) were performed in tandem, and the images were subsequently retrospectively interpreted in random order by three abdominal radiologists who were blinded to the patients' clinical outcomes...
April 24, 2018: Radiology
https://www.readbyqxmd.com/read/29687743/clinical-outcomes-of-treatment-with-filgrastim-versus-a-filgrastim-biosimilar-and-febrile-neutropenia-associated-costs-among-patients-with-nonmyeloid-cancer-undergoing-chemotherapy
#7
Lee S Schwartzberg, Lincy S Lal, Sanjeev Balu, Kim Campbell, Lee Brekke, Andrew DeLeon, Caitlin Elliott, Stephanie Korrer
BACKGROUND: Granulocyte colony-stimulating factors such as filgrastim are used to decrease the incidence of febrile neutropenia (FN) among patients with nonmyeloid cancers undergoing chemotherapy treatment. Although the biosimilar filgrastim-sndz has been approved in the United States since 2015, limited real-world comparisons of filgrastim-sndz versus reference filgrastim (filgrastim-ref) have been conducted. OBJECTIVE: To compare FN incidence and assess overall FN-related health care resource utilization and medical costs among U...
April 24, 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29686170/adaptation-of-the-tool-to-estimate-patient-costs-questionnaire-into-indonesian-context-for-tuberculosis-affected-households
#8
Ahmad Fuady, Tanja A Houweling, Muchtaruddin Mansyur, Jan H Richardus
BACKGROUND: Indonesia is the second-highest country for tuberculosis (TB) incidence worldwide. Hence, it urgently requires improvements and innovations beyond the strategies that are currently being implemented throughout the country. One fundamental step in monitoring its progress is by preparing a validated tool to measure total patient costs and catastrophic total costs. The World Health Organization (WHO) recommends using a version of the generic questionnaire that has been adapted to the local cultural context in order to interpret findings correctly...
January 2018: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29685526/paediatric-magnetic-resonance-enterography-in-inflammatory-bowel-disease
#9
Mary-Louise C Greer
Paediatric magnetic resonance enterography (MRE) has been increasingly employed in the evaluation of inflammatory bowel disease (IBD) in the past decade. This is in parallel with a global rise in paediatric-onset IBD, greater recognition of the hazards of ionizing radiation, especially in children, and improved treatment options. MRE is now the reference standard for assessing the small bowel in suspected or proven paediatric IBD, and is central to the diagnosis of Crohn's disease (CD), helping distinguish it from ulcerative colitis...
May 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29685247/guidelines-for-hospital-privileges-in-vascular-surgery-and-endovascular-interventions-recommendations-of-the-society-for-vascular-surgery
#10
Keith D Calligaro, Kwame S Amankwah, Marcus D'Ayala, O William Brown, Paul Steven Collins, Mohammad H Eslami, Krishna M Jain, Daniel S Kassavin, Brandon Propper, Timur P Sarac, William P Shutze, Thomas H Webb
The Hospital Privileges Practice Guideline Writing Group of the Society for Vascular Surgery is making the following five recommendations concerning guidelines for hospital privileges for vascular surgery and endovascular therapy. Advanced endovascular procedures are currently entrenched in the everyday practice of specialized vascular interventionalists, including vascular surgeons, but open vascular surgery remains uniquely essential to the specialty. First, we endorse the Residency Review Committee for Surgery recommendations regarding open and endovascular cases during vascular residency and fellowship training...
May 2018: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29684933/-dysphagia-from-a-gastroenterologist-s-perspective
#11
Marcus Hollenbach, Jürgen Feisthammel, Joachim Mössner, Albrecht Hoffmeister
Swallowing disorders (dysphagia) comprise a common cause of medical consultation and are defined as a subjective sensation of difficulty or abnormality of swallowing. In the initial step, a clear differentiation of dysphagia from odynophagia and globus sensation for further diagnostic procedures is mandatory. The careful questioning of patients symptoms and complaints is often helpful for the differentiation of oropharyngeal and esophageal dysphagia. Oropharyngeal dysphagia is mainly caused by neurological disorders (cerebral ischemia, Parkinson's disease, dementia) or local compression of malignancies, thyroid gland or lymph nodes...
May 2018: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29684663/predictive-features-for-early-cancer-detection-in-barrett-s-esophagus-using-volumetric-laser-endomicroscopy
#12
Fons van der Sommen, Sander R Klomp, Anne-Fré Swager, Svitlana Zinger, Wouter L Curvers, Jacques J G H M Bergman, Erik J Schoon, Peter H N de With
The incidence of Barrett cancer is increasing rapidly and current screening protocols often miss the disease at an early, treatable stage. Volumetric Laser Endomicroscopy (VLE) is a promising new tool for finding this type of cancer early, capturing a full circumferential scan of Barrett's Esophagus (BE), up to 3-mm depth. However, the interpretation of these VLE scans can be complicated, due to the large amount of cross-sectional images and the subtle grayscale variations. Therefore, algorithms for automated analysis of VLE data can offer a valuable contribution to its overall interpretation...
April 13, 2018: Computerized Medical Imaging and Graphics: the Official Journal of the Computerized Medical Imaging Society
https://www.readbyqxmd.com/read/29683560/hands-on-or-no-hands-on-training-in-ultrasound-imaging-a-randomized-trial-to-evaluate-learning-outcomes-and-speed-of-recall-of-topographic-anatomy
#13
Lars Knudsen, Ralph Nawrotzki, Andreas Schmiedl, Christian Mühlfeld, Carsten Kruschinski, Matthias Ochs
Medical students have difficulties in interpreting two-dimensional (2D) topographic anatomy on sectional images. Hands-on and no hands-on training in ultrasound imaging facilitate learning topographic anatomy. Hands-on training is linked with active search for patterns of anatomical structures and might train pattern recognition for image interpretation better although the added value on learning outcomes is unclear. This study explores first year medical students' knowledge in topographic anatomy of the upper abdomen after attending hands-on or no hands-on training in ultrasound in a randomized trial...
April 23, 2018: Anatomical Sciences Education
https://www.readbyqxmd.com/read/29683429/latency-management-in-scribble-based-interactive-segmentation-of-medical-images
#14
Houssem-Eddine Gueziri, Michael J McGuffin, Catherine Laporte
OBJECTIVE: During an interactive image segmentation task, the outcome is strongly influenced by human factors. In particular, a reduction in computation time does not guarantee an improvement in the overall segmentation time. This paper characterizes user efficiency during scribble-based interactive segmentation as a function of computation time. METHODS: We report a controlled experiment with users who experienced eight different levels of simulated latency (ranging from 100 to 2000 ms) with two techniques for refreshing visual feedback (either automatic, where the segmentation was recomputed and displayed continuously during label drawing, or user initiated, which was only computed and displayed each time the user hits a defined button)...
May 2018: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/29683089/medical-students-perceptions-of-general-practice-as-a-career-a-phenomenological-study-using-socialisation-theory
#15
Katherine Reid, Hugh Alberti
The ageing population and push to community care has significantly increased the workload of General Practitioners (GPs) in the UK and internationally. In an attempt to tackle this, NHS England has promised 5000 more GPs by 2020/21; however, recruitment is in crisis with GP training posts remaining unfilled. Little research has been carried out to assess the fundamental questions of what medical students' perceptions of General Practice are and what shapes their perceptions at medical school. We aimed to explore medical students' conceptualisations of being a GP and specifically the role of the medical school in shaping their perceptions...
April 23, 2018: Education for Primary Care
https://www.readbyqxmd.com/read/29682469/conservative-management-versus-endovascular-or-open-surgery-in-the-spectrum-of-type-b-aortic-dissection
#16
Xun Yuan, Andreas Mitsis, Mohammed Ghonem, Ilias Iakovakis, Christoph A Nienaber
Background: Type B aortic dissection is a life-threatening acute aortic condition often with acute ischemic signs or symptoms. With initial management focusing on alleviating malperfusion and pain, and avoiding propagation of dissection or rupture both systolic blood and pulse pressure should be reduced initially by an aggressive medical approach. In the setting of persistent signs of complications endovascular strategies have replaced open surgery and led to a fourfold increase in early survival and better long-term outcomes...
2018: Journal of Visualized Surgery
https://www.readbyqxmd.com/read/29681419/physostigmine-reversal-of-dysarthria-and-delirium-after-iatrogenic-atropine-overdose-from-a-dental-procedure
#17
Jon B Cole, Benjamin S Orozco, Ann M Arens
BACKGROUND: Sublingual atropine, dosed at 0.4-0.8 mg, is used by dentists as an antisialogogue to facilitate and increase the speed of procedures. Concentrated ophthalmic atropine drops (10 mg/mL) are commonly used off-label for this purpose. These highly concentrated drops may result in medication errors, atropine toxicity, and the antimuscarinic toxidrome. We report a case of a man who suffered acute delirium and dysarthria (from dry mouth) after an iatrogenic overdose from a dental procedure...
April 19, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29680807/fiction-reading-for-good-or-ill-eating-disorders-interpretation-and-the-case-for-creative-bibliotherapy-research
#18
Emily T Troscianko
Compared with self-help bibliotherapy, little is known about the efficacy of creative bibliotherapy or the mechanisms of its possible efficacy for eating disorders or any other mental health condition. It is clear, however, that fiction is widely used informally as a therapeutic or antitherapeutic tool and that it has considerable potential in both directions, with a possibly significant distinction between the effects of reading fiction about eating disorders (which may-contrary to theoretical predictions-be broadly negative in effect) or one's preferred genre of other fiction (which may be broadly positive)...
April 21, 2018: Medical Humanities
https://www.readbyqxmd.com/read/29679408/prehospital-emergency-care-nurses-strategies-while-caring-for-patients-with-limited-swedish-english-proficiency
#19
A Alm Pfrunder, A Falk, V Vicente, V Lindström
AIMS AND OBJECTIVES: To explore the strategies of nurses working in the ambulance service while caring for patients with limited Swedish-English proficiency. BACKGROUND: Communication difficulties due to lack of mutual language is a challenge in health care systems around the world. Little is known about nurses' strategies while caring for patients with whom they do not share a mutual language in an unstructured, unplanned prehospital emergency environment, the ambulance service...
April 20, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29678488/medicolegal-considerations-involving-iatrogenic-lingual-nerve-damage
#20
REVIEW
Roberto Pippi, Andrea Spota, Marcello Santoro
The aim of this review is to improve risk management strategies through analysis of the anatomic, semeiotic, and medicolegal aspects that characterize iatrogenic lingual nerve damage (LND) and its legal consequences in the case of legal proceedings for a claim for compensation. In dental practice, LND can be caused by local or general anesthesia or by mechanical, chemical, or thermal mechanisms. A certain postoperative identification of LND etiopathogenesis is often very challenging because it can be difficult to show at what time the damage occurred and which mechanism actually caused it...
March 27, 2018: Journal of Oral and Maxillofacial Surgery
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