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https://www.readbyqxmd.com/read/28431057/quantitative-analysis-of-pkp2-and-neighbouring-genes-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-heterozygous-pkp2-deletion
#1
Keiko Sonoda, Seiko Ohno, Sou Otuki, Koichi Kato, Nobue Yagihara, Hiroshi Watanabe, Takeru Makiyama, Tohru Minamino, Minoru Horie
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients. Methods and Results: The study cohort consisted of 71 ARVC probands who were diagnosed as definite or borderline cases based on 2010 Task Force Criteria...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430807/diagnosis-of-smear-negative-tuberculosis-is-greatly-improved-by-xpert-mtb-rif
#2
Giulia Lombardi, Valentina Di Gregori, Nicolò Girometti, Marina Tadolini, Francesco Bisognin, Paola Dal Monte
BACKGROUND: Diagnosis of pulmonary (PTB) and extra-pulmonary tuberculosis (EPTB) in smear-negative patients can be difficult. We assessed retrospectively the performance of Xpert MTB/RIF system (Xpert, Cepheid) in diagnosing smear-negative tuberculosis (TB), which represents the most common form of TB in a low incidence setting. METHODS: Performance of Xpert was compared to acid-fast microscopic examination using Ziehl-Neelsen (ZN) stain in patients with culture-confirmed TB...
2017: PloS One
https://www.readbyqxmd.com/read/28430786/repayment-policy-for-multiple-loans
#3
Yasmin Agueda Rios-Solis, Mario Alberto Saucedo-Espinosa, Gabriel Arturo Caballero-Robledo
The Repayment Policy for Multiple Loans is about a given set of loans and a monthly incoming cash flow: what is the best way to allocate the monthly income to repay such loans? In this article, we close the almost 20-year-old open question about how to model the repayment policy for multiple loans problem together with its computational complexity. Thus, we propose a mixed integer linear programming model that establishes an optimal repayment schedule by minimizing the total amount of cash required to repay the loans...
2017: PloS One
https://www.readbyqxmd.com/read/28428130/development-and-validation-of-an-algorithm-to-accurately-identify-atopic-eczema-patients-in-primary-care-electronic-health-records-from-the-uk
#4
K Abuabara, A M Magyari, O Hoffstad, Z K Jabbar-Lopez, L Smeeth, H C Williams, J M Gelfand, D J Margolis, S M Langan
Electronic health records hold great promise for clinical and epidemiologic research. Undertaking atopic eczema (AE) research using such data is challenging due to its episodic and heterogeneous nature. We sought to develop and validate a diagnostic algorithm that identifies AE cases based on codes used for electronic records used in the UK Health Improvement Network (THIN). We found that at least one of 5 diagnosis codes plus two treatment codes for any skin-directed therapy were likely to accurately identify patients with AE...
April 18, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28424482/logistic-bayesian-lasso-for-genetic-association-analysis-of-data-from-complex-sampling-designs
#5
Yuan Zhang, Jonathan N Hofmann, Mark P Purdue, Shili Lin, Swati Biswas
Detecting gene-environment interactions with rare variants is critical in dissecting the etiology of common diseases. Interactions with rare haplotype variants (rHTVs) are of particular interest. At the same time, complex sampling designs, such as stratified random sampling, are becoming increasingly popular for designing case-control studies, especially for recruiting controls. The US Kidney Cancer Study (KCS) is an example, wherein all available cases were included while the controls at each site were randomly selected from the population by frequency matching with cases based on age, sex and race...
April 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28423780/development-and-evaluation-of-a-case-based-retrieval-service
#6
Emilie Pasche, Marcello Chinali, Julien Gobeill, Patrick Ruch
Identifying similar patients might greatly facilitate the treatment of a given patient, enabling to observe the response and outcome to a particular treatment. Case-based retrieval services dealing with natural language processing are of major importance to deal with the significant amount of unstructured clinical data. In this paper, we present the development and evaluation of a case-based retrieval (CBR) service tested on a collection of Italian pediatric cardiology cases. Cases are indexed and a search engine is proposed...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28423745/reasoning-and-data-representation-in-a-health-and-lifestyle-support-system
#7
Sten Hanke, Karl Kreiner, Johannes Kropf, Marc Scase, Christian Gossy
Case-based reasoning and data interpretation is an artificial intelligence approach that capitalizes on past experience to solve current problems and this can be used as a method for practical intelligent systems. Case-based data reasoning is able to provide decision support for experts and clinicians in health systems as well as lifestyle systems. In this project we were focusing on developing a solution for healthy ageing considering daily activities, nutrition as well as cognitive activities. The data analysis of the reasoner followed state of the art guidelines from clinical practice...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28423453/periodontal-treatment-in-private-dental-practice-a-case-based-survey
#8
I Darby, S-Y Barrow, B Cvetkovic, R Musolino, S Wise, C Yung, D Bailey
BACKGROUND: This study aimed to assess the management and referral patterns of Victorian general dental practitioners based on periodontal diagnosis. METHODS: Following ethics approval, Victorian general dental practitioners were invited to complete five randomised text-based periodontitis scenario questionnaires. Based on their diagnosis respondents were asked for their management options and asked to specify who would perform these treatments. Respondents were also asked about referral procedures...
April 19, 2017: Australian Dental Journal
https://www.readbyqxmd.com/read/28420502/the-impact-of-situation-background-assessment-recommendation-sbar-on-safety-attitudes-in-the-obstetrics-department
#9
Wan-Hua Ting, Fu-Shiang Peng, Ho-Hsiung Lin, Sheng-Mou Hsiao
OBJECTIVE: Previous studies evaluating the situation-background-assessment-recommendation (SBAR) have been shown to increase effective nurse-physician communication and collaboration. The purpose of this study is to evaluate the impact of the SBAR technique on safety attitudes in the obstetrics department. MATERIALS AND METHODS: This study implemented the SBAR Collaborative Communication Education course and was conducted in a medical center from February 2012 to March 2015, which included an educational session on fetal heart rate monitoring, a case-based discussion, and a video demonstration on traditional and SBAR communication...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28413048/milk-c-reactive-protein-in-canine-mastitis
#10
Iosif Vasiu, Roman Dąbrowski, Silvia Martinez-Subiela, Jose J Ceron, Anna Wdowiak, Raul Alexandru Pop, Florinel Gheorghe Brudaşcă, Josep Pastor, Asta Tvarijonaviciute
Presence of mastitis in lactating bitches can become life threatening for both the bitch and pups. The aim of the present study was to evaluate a possible utility of C-reactive protein (CRP) in both milk and serum for canine mastitis diagnosis. Our study showed that milk CRP levels ranged between 0.1 and 4.9μg/mL and from 0.3 to 40.0μg/mL in healthy and diseased bitches (P<0.01), respectively, while serum CRP levels ranged between 2.0 and 8.6μg/mL and between 0.3 and 162.3μg/mL in healthy and diseased bitches (P<0...
April 2017: Veterinary Immunology and Immunopathology
https://www.readbyqxmd.com/read/28407356/risk-of-cancer-after-anticoagulation-in-patients-with-unprovoked-venous-thromboembolism-an-observational-cohort-study
#11
L Eischer, M Kammer, L Traby, P A Kyrle, S Eichinger
BACKGROUND: Patients with venous thromboembolism (VTE) are at risk of subsequent cancer diagnosis. The risk is highest during the first six months. Reports on cancer rates thereafter are controversial. We aimed to assess long-term rates and risk factors of cancer in patients with VTE. METHODS AND RESULTS: We followed patients with a first unprovoked VTE after discontinuation of anticoagulation and excluded those with long-term antithrombotic therapy or major thrombophilia...
April 13, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28406955/predictive-long-range-allele-specific-mapping-of-regulatory-variants-and-target-transcripts
#12
Kibaick Lee, Seulkee Lee, Hyoeun Bang, Jung Kyoon Choi
Genome-wide association studies (GWASs) have identified a large number of noncoding associations, calling for systematic mapping to causal regulatory variants and their distal target genes. A widely used method, quantitative trait loci (QTL) mapping for chromatin or expression traits, suffers from sample-to-sample experimental variation and trans-acting or environmental effects. Instead, alleles at heterozygous loci can be compared within a sample, thereby controlling for those confounding factors. Here we introduce a method for chromatin structure-based allele-specific pairing of regulatory variants and target transcripts...
2017: PloS One
https://www.readbyqxmd.com/read/28406103/remote-online-case-based-learning-a-comparison-of-remote-online-and-face-to-face-case-based-learning-a-randomized-controlled-trial
#13
Peter Nicklen, Jenny L Keating, Sophie Paynter, Michael Storr, Stephen Maloney
BACKGROUND: Case-based learning (CBL) is an educational approach where students work in small, collaborative groups to solve problems. Computer assisted learning (CAL) is the implementation of computer technology in education. The purpose of this study was to compare the effects of a remote-online CBL (RO-CBL) with traditional face-to-face CBL on learning the outcomes of undergraduate physiotherapy students. METHODS: Participants were randomized to either the control (face-to-face CBL) or to the CAL intervention (RO-CBL)...
September 2016: Education for Health: Change in Training & Practice
https://www.readbyqxmd.com/read/28404484/health-research-capacity-building-in-georgia-a%C3%A2-case-based-needs-assessment
#14
A Squires, T Chitashvili, M Djibuti, L Ridge, D Chyun
OBJECTIVES: Research capacity building in the health sciences in low- and middle-income countries (LMICs) has typically focused on bench-science capacity, but research examining health service delivery and health workforce is equally necessary to determine the best ways to deliver care. The Republic of Georgia, formerly a part of the Soviet Union, has multiple issues within its healthcare system that would benefit from expended research capacity, but the current research environment needs to be explored prior to examining research-focused activities...
March 6, 2017: Public Health
https://www.readbyqxmd.com/read/28401695/case-based-discussion-perceptions-of-feedback
#15
Aruchuna Mohanaruban, Lucy Flanders, Huw Rees
BACKGROUND: Over recent years there has been a trend towards developing high-quality assessments to assess a doctor's performance in the workplace. Case-based discussion (CbD) is a form of workplace-based assessment that has the potential to provide feedback to trainees on their performance or management of a specific case. The aim of this study was to explore how CbDs are perceived and implemented in practice amongst a UK cohort of medical trainees. METHODS: This study involved 78 medical trainees at a UK hospital completing a questionnaire rating their last CbD experience, including the duration spent receiving feedback, whether it was pre-planned or ad hoc and how they responded to the feedback received...
April 12, 2017: Clinical Teacher
https://www.readbyqxmd.com/read/28397326/diagnosis-and-management-of-neuropathies-associated-with-plasma-cell-dyscrasias
#16
REVIEW
Evan Rosenbaum, Douglas Marks, Shahzad Raza
Neuropathies associated with plasma cell dyscrasias are a major cause of morbidity for patients managed by medical oncologists. Because of similarities in clinical presentation and on nerve conduction studies, identifying the underlying disease leading to a paraproteinemic neuropathy can often be difficult. In addition, the degree of neurologic deficit does not strictly correlate with the extent of abnormalities on common clinical laboratory testing. Fortunately, with increasing understanding into the biologic mechanisms of underlying hematologic diseases, additional biomarkers have recently been developed, thus improving our diagnostic capacity...
April 10, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28389483/epidemiology-of-rubella-infection-in-cameroon-a-7-year-experience-of-measles-and-rubella-case-based-surveillance-2008-2014
#17
Marcellin Nimpa Mengouo, Valantine Ngum Ndze, Frangy Baonga, Marie Kobela, Charles Shey Wiysonge
OBJECTIVE: The aim of this study was to estimate the proportion of rubella disease in a measles case-based surveillance in Cameroon prior to rubella vaccine introduction into the national immunisation programme. DESIGN: This was a cross-sectional study for rubella infection in Cameroon for the period 2008 to 2014. SETTING: Patients suspected with measles from the 10 regions of Cameroon were recruited according to the WHO measles case definition and were tested for rubella IgM antibodies accompanied with the case report/investigation forms...
April 7, 2017: BMJ Open
https://www.readbyqxmd.com/read/28387052/examining-trends-in-type-2-diabetes-incidence-prevalence-and-mortality-in-the-uk-between-2004-and-2014
#18
Salwa S Zghebi, Douglas T Steinke, Matthew J Carr, Martin K Rutter, Richard A Emsley, Darren M Ashcroft
AIMS: Contemporary data describing type 2 diabetes prevalence, incidence and mortality are limited. We aimed to (i) estimate annual incidence and prevalence rates of type 2 diabetes in the UK between 2004 and 2014; (ii) examine relationships between observed rates with age, gender, socio-economic status and geographic region; and (iii) assess how temporal changes in incidence and all-cause mortality rates influence changes in prevalence. METHODS: Type 2 diabetes cases aged ≥16 years between January 2004 and December 2014 were identified using the Clinical Practice Research Datalink (CPRD)...
April 7, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28381894/teaching-student-pharmacists-to-apply-drug-literature-to-patient-cases
#19
Robert D Beckett, Jennifer A Henriksen, Kierstan Hanson, Holly D Robison
Objective. To implement a series of activities designed to build drug literature evaluation skills and assess their impact on student pharmacists' ability to apply study results to patient cases. Design. Coursework was integrated across two didactic and pharmacy practice laboratory (PPL) courses. Team and individual journal clubs were used in traditional and case-based approaches during PPL courses to reinforce skills introduced in didactic courses. Student performance and perceptions were assessed during orientation for the third professional (P3) year and after the objective structured clinical examination (OSCE) at the end of the P3 year in identical drug literature evaluation assessments and pre- and post-intervention surveys of students...
March 25, 2017: American Journal of Pharmaceutical Education
https://www.readbyqxmd.com/read/28380402/the-role-of-thrombocytapheresis-in-the-contemporary-management-of-hyperthrombocytosis-in-myeloproliferative-neoplasms-a-case-based-review
#20
REVIEW
Prajwal Boddu, Lorenzo Falchi, Chitra Hosing, Kate Newberry, Prithviraj Bose, Srdan Verstovsek
Extreme thrombocytosis induces an acquired thrombotic-hemorrhagic diathesis, and left uncontrolled is a harbinger of potentially fatal vascular complications. Currently, cytoreduction with medical therapy remains the mainstay of hyperthrombocytosis management. However, it offers a less-than-ideal option in situations where a rapid reduction in platelets is urgently needed, as in the presence of vital end-organ ischemia or to ameliorate of life-threatening hemorrhage. The role of thrombocytapheresis, or plateletpheresis, in hyperthrombocytosis has become increasingly obsolete given the proactive titration of cytoreductive therapies and early identification and correction of reversible causes of reactive thrombocytosis...
March 22, 2017: Leukemia Research
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