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https://www.readbyqxmd.com/read/28535206/clinical-exome-sequencing-reports-current-informatics-practice-and-future-opportunities
#1
Rajeswari Swaminathan, Yungui Huang, Caroline Astbury, Sara Fitzgerald-Butt, Katherine Miller, Justin Cole, Christopher Bartlett, Simon Lin
The increased adoption of clinical whole exome sequencing (WES) has improved the diagnostic yield for patients with complex genetic conditions. However, the informatics practice for handling information contained in whole exome reports is still in its infancy, as evidenced by the lack of a common vocabulary within clinical sequencing reports generated across genetic laboratories. Genetic testing results are mostly transmitted using portable document format, which can make secondary analysis and data extraction challenging...
May 23, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28535143/intercultural-communication-through-the-eyes-of-patients-experiences-and-preferences
#2
Emma Paternotte, Sandra van Dulmen, Lindsay Bank, Conny Seeleman, Albert Scherpbier, Fedde Scheele
Objectives: To explore patients' preferences and experiences regarding intercultural communication which could influence the development of intercultural patient-centred communication training. Methods: This qualitative study is based on interviews with non-native patients. Thirty non-native patients were interviewed between September and December 2015 about their preferences and experiences regarding communication with a native Dutch doctor. Fourteen interviews were established with an interpreter...
May 16, 2017: International Journal of Medical Education
https://www.readbyqxmd.com/read/28535124/serum-creatinine-and-cystatin-c-provide-conflicting-evidence-of-acute-kidney-injury-following-acute-ingestion-of-potassium-permanganate-and-oxalic-acid
#3
Thilini Madushanka Wijerathna, Indika Bandara Gawarammana, Dhammika Menike Dissanayaka, Chathura Palanagasinghe, Fathima Shihana, Gihani Dassanayaka, Seyed Shahmy, Zoltan Huba Endre, Fahim Mohamed, Nicholas Alan Buckley
AIM: Acute kidney injury (AKI) is common following deliberate self-poisoning with a combination washing powder containing oxalic acid (H2C2O4) and potassium permanganate (KMnO4). Early and rapid increases in serum creatinine (sCr) follow severe poisoning. We investigated the relationship of these increases with direct nephrotoxicity in an ongoing multicenter prospective cohort study in Sri Lanka exploring AKI following poisoning. METHODS: Multiple measures of change in kidney function were evaluated in 48 consenting patients who had serial sCr and serum cystatin C (sCysC) data available...
May 23, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28535120/differentiation-of-recurrent-glioblastoma-from-delayed-radiation-necrosis-by-using-voxel-based-multiparametric-analysis-of-mr-imaging-data
#4
Ra Gyoung Yoon, Ho Sung Kim, Myeong Ju Koh, Woo Hyun Shim, Seung Chai Jung, Sang Joon Kim, Jeong Hoon Kim
Purpose To assess a volume-weighted voxel-based multiparametric (MP) clustering method as an imaging biomarker to differentiate recurrent glioblastoma from delayed radiation necrosis. Materials and Methods The institutional review board approved this retrospective study and waived the informed consent requirement. Seventy-five patients with pathologic analysis-confirmed recurrent glioblastoma (n = 42) or radiation necrosis (n = 33) who presented with enlarged contrast material-enhanced lesions at magnetic resonance (MR) imaging after they completed concurrent chemotherapy and radiation therapy were enrolled...
May 23, 2017: Radiology
https://www.readbyqxmd.com/read/28534645/the-mitochondria-targeting-peptide-elamipretide-diminishes-circulating-htra2-in-st-segment-elevation-myocardial-infarction
#5
Marcus Hortmann, Samuel Robinson, Moritz Mohr, Maximillian Mauler, Daniela Stallmann, Jochen Reinöhl, Daniel Duerschmied, Karlheinz Peter, James Carr, C Michael Gibson, Christoph Bode, Ingo Ahrens
BACKGROUND: The extent of myocardial damage in patients with ST-segment elevation myocardial infarction (STEMI) depends on both the time to reperfusion as well as injury induced by ischaemia-reperfusion resulting in a cascade of cellular and humoral reactions. As a consequence of ischaemia-reperfusion in the heart, the high-temperature requirement serine peptidase 2 (HtrA2) is translocated from the mitochondria to the cytosol, whereupon it induces protease activity-dependent apoptosis mediated via caspases...
May 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/28534169/-capacity-to-consent-to-treatment-in-dementia-patients-interdisciplinary-perspectives
#6
REVIEW
Julia Haberstroh, Tanja Müller
BACKGROUND: Currently, there are no concrete, evidence-based default procedures to adequately assess the capacity to consent to medical treatment. This explains why different raters use individual heuristics, differing both within and between disciplines. The lack of a procedure that is standardized, validated, and equally accepted across disciplines to assess the capacity to consent to treatment has led to an uncertainty in legal and medical practice regarding appropriate action and decision making...
May 22, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28534057/the-effect-of-thawing-protocols-on-follicle-conservation-in-human-ovarian-tissue-cryopreservation
#7
T Morewood, N Getreu, B Fuller, J Morris, P Hardiman
BACKGROUND: Ovarian tissue cryopreservation has the potential to improve fertility preservation for a growing number of patients undergoing sterilising therapy, particularly where oocyte or embryo cryopreservation is not suitable. However, its success is limited by significant follicular apoptosis upon thawing, and there is wide variation in thawing protocols used with little evidence of efficacy. OBJECTIVE: To determine the best warming rates to maintain tissue viability...
March 2017: Cryo Letters
https://www.readbyqxmd.com/read/28533916/pediatric-intensive-care-stress-ulcer-prevention-pic-up-a-protocol-for-a-pilot-randomized-trial
#8
Mark Duffett, Karen Choong, Jennifer Foster, Elaine Gilfoyle, Jacques Lacroix, Nikhil Pai, Lehana Thabane, Deborah J Cook
BACKGROUND: Despite sparse pediatric data on effectiveness, the majority of critically ill children receive medications to prevent gastrointestinal (GI) bleeding. Stress ulcer prophylaxis may have unintended consequences-increasing the risk of nosocomial infections-which may be more serious and common than the bleeding which these drugs are prescribed to prevent. Randomized controlled trials (RCTs) in pediatric critical care are exceptionally challenging to complete, thus a rigorous pilot RCT is crucial...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/28533160/cancer-treatment-side-effects-a-meta-analysis-of-the-relationship-between-response-expectancies-and-experience
#9
REVIEW
Elise J Devlin, Linley A Denson, Hayley S Whitford
CONTEXT: Although previous research has, overall, suggested a moderate relationship between response expectancies (REs) and cancer treatment-related side-effects, empirical results have been mixed. OBJECTIVES: We aimed to further explore these relationships, hypothesizing that REs would predict subsequent toxicities with the inclusion of more recent studies, across a broader range of side-effects, while incorporating the impact of potential moderators including patients' experience with treatment and measurement methods...
May 19, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28530849/allergic-bronchopulmonary-aspergillosis-in-cystic-fibrosis-mr-imaging-of-airway-mucus-contrasts-as-a-tool-for-diagnosis
#10
Gaël Dournes, Patrick Berger, John Refait, Julie Macey, Stephanie Bui, Laurence Delhaes, Michel Montaudon, Olivier Corneloup, Jean-François Chateil, Roger Marthan, Michaël Fayon, François Laurent
Purpose To assess the diagnostic accuracy of mucus contrast characterization by using magnetic resonance (MR) imaging to discriminate allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis (CF). Materials and Methods The study was approved by the local Ethics Committee, and all patients or their parents gave written informed consent. One hundred ten consecutive patients with CF were screened between January 2014 and July 2015. All patients underwent a non-contrast material-enhanced MR protocol that included routine T1-weighted and T2-weighted sequences...
May 22, 2017: Radiology
https://www.readbyqxmd.com/read/28530118/readmission-to-intensive-care-unit-incidence-risk-factors-resource-use-and-outcomes-a-retrospective-cohort-study
#11
Carolina R Ponzoni, Thiago D Corrêa, Roberto R Filho, Ary Serpa Neto, Murillo Sc Assunção, Andreia Pardini, Guilherme Pp Schettino
RATIONALE: Readmission to intensive care unit (ICU) is associated with poor clinical outcomes, increased length of ICU and hospital stay and higher costs. Nevertheless, knowledge on epidemiology of ICU readmissions, risk factors and attributable outcomes are restricted to developed countries. OBJECTIVES: Determine the effect of ICU readmissions on in-hospital mortality, incidence of ICU readmissions, identify predictors of ICU readmissions and hospital mortality and compare resource use and outcomes between readmitted and nonreadmitted patients in a developing country...
May 21, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28530047/what-is-it-going-to-take-to-move-youth-related-hiv-programme-policies-into-practice-in-africa
#12
Daniella Mark, Lina Taing, Lucie Cluver, Chris Collins, Kate Iorpenda, Catarina Andrade, Luann Hatane
INTRODUCTION: HIV has been reported to be the leading cause of mortality amongst adolescents in Africa. This has brought attention to the changes in service provision and health management that many adolescents living with HIV experience when transferring from specialized paediatric- or adolescent-focused services to adult care. When transition is enacted poorly, adherence may be affected and the continuum of care disrupted. As the population of HIV-infected adolescents grows, effective and supported transition increases in significance as an operational imperative...
May 16, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28530036/living-and-dying-to-be-counted-what-we-know-about-the-epidemiology-of-the-global-adolescent-hiv-epidemic
#13
Amy L Slogrove, Mary Mahy, Alice Armstrong, Mary-Ann Davies
INTRODUCTION: With increasing survival of vertically HIV-infected children and ongoing new horizontal HIV infections, the population of adolescents (age 10-19 years) living with HIV is increasing. This review aims to describe the epidemiology of the adolescent HIV epidemic and the ability of national monitoring systems to measure outcomes in HIV-infected adolescents through the adolescent transition to adulthood. METHODS: Differences in global trends between younger (age 10-14 years) and older (age 15-19 years) adolescents in key epidemic indicators are interrogated using 2016 UNAIDS estimates...
May 16, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28529875/advanced-magnetic-resonance-imaging-and-neuropsychological-assessment-for-detecting-brain-injury-in-a-prospective-cohort-of-university-amateur-boxers
#14
M G Hart, C R Housden, J Suckling, R Tait, A Young, U Müller, V F J Newcombe, I Jalloh, B Pearson, J Cross, R A Trivedi, J D Pickard, B J Sahakian, P J Hutchinson
BACKGROUND/AIM: The safety of amateur and professional boxing is a contentious issue. We hypothesised that advanced magnetic resonance imaging and neuropsychological testing could provide evidence of acute and early brain injury in amateur boxers. METHODS: We recruited 30 participants from a university amateur boxing club in a prospective cohort study. Magnetic resonance imaging (MRI) and neuropsychological testing was performed at three time points: prior to starting training; within 48 h following a first major competition to detect acute brain injury; and one year follow-up...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28529683/gd-eob-dtpa-based-magnetic-resonance-imaging-for-predicting-liver-response-to-portal-vein-embolization
#15
Janio Szklaruk, Gustavo Luersen, Jingfei Ma, Wei Wei, Michelle Underwood
AIM: To evaluate the correlation between degree of kinetic growth (kGR) of the liver following portal vein embolization (PVE) liver and the enhancement of the during the hepatobiliary phase of contrast administration and to evaluate if the enhancement can be used to predict response to PVE prior to the procedure. METHODS: Seventeen patients were consented for the prospective study. All patients had an MR of the abdomen with Gd-EOB-DTPA. Fourteen patients underwent PVE...
April 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28529369/concurrent-validity-of-indian-disability-evaluation-and-assessment-scale-with-sociooccupational-functioning-scale-in-patients-with-schizophrenia
#16
Swapnajeet Sahoo, Sandeep Grover, Devakshi Dua, Subho Chakrabarti, Ajit Avasthi
BACKGROUND: The Government of India (GOI) has recommended the use of Indian Disability Evaluation and Assessment Scale (IDEAS) for the assessment and certification of disability in patients with mental illness. Although data are available in terms of internal consistency and construct validity of IDEAS, concurrent validity of IDEAS has rarely been evaluated. AIM: The aim was to study the concurrent validity of IDEAS with Global Assessment of Functioning (GAF) and Social and Occupational Functioning Scale (SOFS) in patients with schizophrenia...
January 2017: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28529362/study-of-sexual-functioning-and-disorder-in-women-before-and-after-tubal-sterilization-tubectomy
#17
Shweta Patil Kunkeri, T S Sathyanarayana Rao, Chittaranjan Andrade
INTRODUCTION: Sexual relationship is a basis for mental health and continuity of the healthy generation. There are very few studies on the female sexual functioning, especially in India. Sterilization being the most common contraceptive method, sexual functioning in women undergoing this surgical intervention has not been adequately explored. Available studies have found conflicting results; some have reported that sterilization has positive effects on sexual functioning since anxiety of getting pregnant is abolished...
January 2017: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28528481/consent-an-event-or-a-memory-in-lumbar-spinal-surgery-a-multi-centre-multi-specialty-prospective-study-of-documentation-and-patient-recall-of-consent-content
#18
William B Lo, Ciaran P McAuley, Martin J Gillies, Patrick J Grover, Erlick A C Pereira
STUDY DESIGN: Prospective, multi-centre, multi-specialty medical notes review and patient interview. PURPOSE: The consenting process is an important communication tool which also carries medico-legal implications. While written consent is a pre-requisite before spinal surgery in the UK, the standard and effectiveness of the process have not been assessed previously. This study assesses standard of written consent for elective lumbar decompressive surgery for degenerative disc disease across different regions and specialties in the UK; level of patient recall of the consent content; and identifies factors which affect patient recall...
May 20, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28528347/discriminative-accuracy-of-physician-and-nurse-predictions-for-survival-and-functional-outcomes-6-months-after-an-icu-admission
#19
Michael E Detsky, Michael O Harhay, Dominique F Bayard, Aaron M Delman, Anna E Buehler, Saida A Kent, Isabella V Ciuffetelli, Elizabeth Cooney, Nicole B Gabler, Sarah J Ratcliffe, Mark E Mikkelsen, Scott D Halpern
Importance: Predictions of long-term survival and functional outcomes influence decision making for critically ill patients, yet little is known regarding their accuracy. Objective: To determine the discriminative accuracy of intensive care unit (ICU) physicians and nurses in predicting 6-month patient mortality and morbidity, including ambulation, toileting, and cognition. Design, Setting, and Participants: Prospective cohort study conducted in 5 ICUs in 3 hospitals in Philadelphia, Pennsylvania, and enrolling patients who spent at least 3 days in the ICU from October 2013 until May 2014 and required mechanical ventilation, vasopressors, or both...
May 21, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28528279/first-validation-of-the-gout-activity-score-against-gout-impact-scale-in-a-primary-care-based-gout-cohort
#20
Jonathan La-Crette, Wendy Jenkins, Gwen Fernandes, Ana M Valdes, Michael Doherty, Abhishek Abhishek
OBJECTIVES: To validate the gout activity score (GAS) against the gout impact scale in a primary care based gout cohort. METHODS: This was a single-centre cross-sectional study. People with gout who participated in previous research at Academic Rheumatology, University of Nottingham, UK, and consented for participation in future studies were mailed a questionnaire in September 2015. Those returning completed questionnaires were invited to attend for a study visit at which blood was collected and musculoskeletal examination was performed...
May 17, 2017: Joint, Bone, Spine: Revue du Rhumatisme
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