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Clinical pathway diagnostic test

Marianne Williams, Yvonne Barclay, Rosie Benneyworth, Steve Gore, Zoe Hamilton, Rudi Matull, Iain Phillips, Leah Seamark, Kate Staveley, Steve Thole, Emma Greig
BACKGROUND: Irritable bowel syndrome (IBS) costs the National Health Service almost £12 million per annum. Despite national guidelines advising primary care management, these have failed to stem secondary care referrals of patients with likely IBS for unnecessary and costly assessment and investigation without necessarily achieving resolution of their symptoms. METHODS: In 2011, an integrated team from primary and secondary care developed a business case using baseline data to create a Somerset-wide IBS pathway using Clinical Commissioning Group funding...
October 2016: Frontline Gastroenterology
Dagmar Schmitz
Since cell-free DNA (cfDNA) fragments of placental origin can be isolated and analyzed from the blood of pregnant women. Applications of this finding have been developed and implemented in clinical care pathways worldwide at an unprecedented pace and manner. Implementation patterns, however, exhibit considerable insufficiencies. Different "motors" of implementation processes, like the market or various regulatory institutions, can be identified at a national level. Each "motor" entails characteristic ethical challenges which are exemplified impressively by a rising number of case reports...
2016: Advances in Experimental Medicine and Biology
D P Devanand
Several recently developed biomarkers of Alzheimer disease (AD) are invasive, expensive, and difficult to obtain in most clinical settings. Olfactory identification test performance represents a noninvasive, inexpensive biomarker of AD that may have predictive accuracy comparable with neuroimaging measures and biomarkers assessed in cerebrospinal fluid. Neurofibrillary tangles in the olfactory bulb are among the earliest pathologic features of AD and are also seen in the projection pathways from the olfactory bulb to secondary olfactory brain regions, including the piriform and medial temporal cortex, orbitofrontal cortex, and other limbic regions...
August 17, 2016: American Journal of Geriatric Psychiatry
Amanda R Dancsok, Karama Asleh-Aburaya, Torsten O Nielsen
The heterogeneity of sarcomas with regard to molecular genesis, histology, clinical characteristics, and response to treatment makes management of these rare yet diverse neoplasms particularly challenging. This review encompasses recent developments in sarcoma diagnostics and treatment, including cytotoxic, targeted, epigenetic, and immune therapy agents. In the past year, groups internationally explored the impact of adding mandatory molecular testing to histological diagnosis, reporting some changes in diagnosis and/or management; however, the impact on outcomes could not be adequately assessed...
October 9, 2016: Oncotarget
Yao Huang, David J Burns, Benjamin E Rich, Ian A MacNeil, Abhijit Dandapat, Sajjad M Soltani, Samantha Myhre, Brian F Sullivan, Leo T Furcht, Carol A Lange, Sara A Hurvitz, Lance G Laing
The results of clinical trials evaluating the efficacy of HER2 inhibitors in patients with breast cancer indicate that the correlation between HER2 receptor levels and patient outcomes is as low as 50%. The relatively weak correlation between HER2 status and response to HER2-targeting drugs suggests that measurement of HER2 signaling activity, rather than absolute HER2 levels, may more accurately diagnose HER2-driven breast cancer. A new diagnostic test, the CELx HER2 Signaling Profile (CELx HSP) test, is demonstrated to measure real-time HER2 signaling function in live primary cells...
October 5, 2016: Oncotarget
Susie Hoffman, Theresa M Exner, Naomi Lince-Deroche, Cheng-Shiun Leu, Jessica L Phillip, Elizabeth A Kelvin, Anisha D Gandhi, Bruce Levin, Dinesh Singh, Joanne E Mantell, Kelly Blanchard, Gita Ramjee
BACKGROUND: Timely linkage to care by newly-diagnosed HIV+ individuals remains a significant challenge to achieving UNAIDS 90-90-90 goals. Current World Health Organization (WHO) guidelines recommend initiating anti-retroviral treatment (ART) regardless of CD4+ count, with priority given to those with CD4+ <350 cells/μl. We evaluated the impact of not having a day-of-diagnosis CD4+ count blood draw, as recommended by South African guidelines, on time to linkage, using data from a prospective cohort study...
2016: PloS One
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
September 22, 2016: Molecular Medicine Reports
Laurence Blake, Rui V Duarte, Carole Cummins
OBJECTIVES: The mortality associated with liver disease continues to increase, despite the improvements implemented in the UK healthcare as does the prevalence of non-alcoholic fatty liver disease (NAFLD), given the escalating prevalence of obesity. The currently available methods to assess and monitor the stage of liver disease present several limitations. Recently, multiparametric MRI has been developed to address these limitations. The aim of this study is to develop a decision analytic model for patients with suspected NAFLD, to investigate the effect of adding multiparametric MRI to the diagnostic pathway...
2016: BMJ Open
Shaun Mohan, Deipanjan Nandi, Paul Stephens, Mirna MʼFarrej, R Lee Vogel, Christopher P Bonafide
OBJECTIVE: To evaluate the impact of a pediatric emergency department (ED) chest pain clinical pathway on resource utilization. METHODS: Motivated by perceived overuse of cardiology consultation for non-cardiac chest pain in the ED, clinicians from the Divisions of Cardiology and Emergency Medicine collaboratively developed a chest pain clinical pathway, educated staff, and implemented the pathway on March 1, 2014. We reviewed records of children aged 3 to 18 years without prior diagnoses of heart disease who presented to the ED with chest pain between March 1, 2013, and April 22, 2015...
September 20, 2016: Pediatric Emergency Care
Tahar Chouihed, Stéphane Manzo-Silberman, Nicolas Peschanski, Sandrine Charpentier, Meyer Elbaz, Dominique Savary, Eric Bonnefoy-Cudraz, Said Laribi, Patrick Henry, Nicolas Girerd, Faiez Zannad, Carlos El Khoury
BACKGROUND: An appropriate diagnostic process is crucial for managing patients with acute heart failure (AHF) in emergency department (ED). Our study aims to describe the characteristics and therapeutic management of patients admitted to the ED for dyspnea suspected to have AHF, their in-hospital pathway of care and their in-hospital outcome. METHODS: Consecutive patients admitted in 26 French ED for dyspnea suspected to be the consequence of AHF, prior to in hospital diagnostic test, were prospectively included at the time of their admission in the DeFSSICA Survey...
September 17, 2016: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
Li Lu, Menglin Wu, Feixiang Zhao, Weihua Fu, Weidong Li, Xue Li, Tong Liu
Glioma associated oncogene-1 (Gli-1) is considered as a strong positive activator of downstream target genes of hedgehog signal pathway in mammalians. However, its diagnostic and prognostic value in gastric cancer remains unclear and controversial. Therefore, a quantitative meta-analysis was conducted to determine the clinical value of Gli-1 in gastric cancer patients. Twelve eligible articles with 886 gastric cancer patients were included in this meta-analysis. The relationship between Gli-1 expression in gastric cancer patients and clinicopathological features and 5-year overall survival (OS) was evaluated using pooled odds ratios (ORs) and hazard ratio (HR) with 95% confidence intervals (CIs)...
September 13, 2016: Oncotarget
Urszula Szlendak, Ksenia Bykowska, Agnieszka Lipniacka
Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are largely expressed either in the liver or bone marrow, the sites where the majority of heme is produced. Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral attacks, and disorders of the nervous system...
March 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Jeremy R Huddy, Sharon-Marie Weldon, Shvaita Ralhan, Tim Painter, George B Hanna, Roger Kneebone, Fernando Bello
OBJECTIVES: Public and patient engagement (PPE) is fundamental to healthcare research. To facilitate effective engagement in novel point-of-care tests (POCTs), the test and downstream consequences of the result need to be considered. Sequential simulation (SqS) is a tool to represent patient journeys and the effects of intervention at each and subsequent stages. This case study presents a process evaluation of SqS as a tool for PPE in the development of a volatile organic compound-based breath test POCT for the diagnosis of oesophagogastric (OG) cancer...
September 13, 2016: BMJ Open
Marie Westwood, Bram Ramaekers, Shona Lang, Nigel Armstrong, Caro Noake, Shelley de Kock, Manuela Joore, Johan Severens, Jos Kleijnen
BACKGROUND: Allergy is a form of immune-mediated exaggerated sensitivity (hypersensitivity) to a substance that is either inhaled, swallowed, injected or comes into contact with the skin. Foreign substances that provoke allergies are called allergens. It has been claimed that multiplex allergen testing may help in diagnosing the cause of symptoms in patients with an unclear cause of allergy or who are allergic to more than one substance. OBJECTIVES: To evaluate multiplex allergen testing [devices that can measure the presence of multiple immunoglobulin E (IgE) antibodies in a patient's blood at the same time], by assessing (1) clinical effectiveness (allergy symptoms, incidence of acute exacerbations, mortality, adverse events of testing and treatment, health-care presentations or admissions, health-related quality of life); (2) effects on treatment (diet, immunotherapy medications, other potential testing); (3) any additional diagnostic information provided by multiplex allergen testing; and (4) cost-effectiveness (cost of different assessment strategies)...
September 2016: Health Technology Assessment: HTA
Daniele Regge, Simone Mazzetti, Valentina Giannini, Christian Bracco, Michele Stasi
Cancer is a complex disease and unfortunately understanding how the components of the cancer system work does not help understand the behavior of the system as a whole. In the words of the Greek philosopher Aristotle "the whole is greater than the sum of parts." To date, thanks to improved information technology infrastructures, it is possible to store data from each single cancer patient, including clinical data, medical images, laboratory tests, and pathological and genomic information. Indeed, medical archive storage constitutes approximately one-third of total global storage demand and a large part of the data are in the form of medical images...
September 13, 2016: La Radiologia Medica
Matthew G Sampson
The discovery of genetic variation associated with pediatric kidney disease has shed light on the biology underlying these conditions and, in some cases, has improved our clinical management of patients. We are challenged to continue the momentum of the genomic era in pediatric nephrology by identifying novel disease-associated genetic variation and translating these discoveries into clinical applications. This article reviews the diverse forms of genetic architecture that have been found to be associated with kidney diseases and traits...
March 2016: Journal of Pediatric Genetics
April Morrow, Sean Seeho, Kristine Barlow-Stewart, Jane Fleming, Bettina Meiser, Janan Karatas
BACKGROUND: Pre-implantation genetic diagnosis (PGD) is a molecular diagnostic technique in which embryos are tested for specific genetic abnormalities to enable the selection of those unaffected by the condition. Previous Australian evidence suggested that women who are not informed about PGD by their obstetrician feel disempowered about not being given this option. AIMS: This study aimed to explore obstetrician knowledge regarding PGD and identify barriers to referral...
September 9, 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
Yan Jin, Yi Su, Xiao-Hua Zhou, Shuai Huang
By 2050, it is estimated that the number of worldwide Alzheimer's disease (AD) patients will quadruple from the current number of 36 million, while no proven disease-modifying treatments are available. At present, the underlying disease mechanisms remain under investigation, and recent studies suggest that the disease involves multiple etiological pathways. To better understand the disease and develop treatment strategies, a number of ongoing studies including the Alzheimer's Disease Neuroimaging Initiative (ADNI) enroll many study participants and acquire a large number of biomarkers from various modalities including demographic, genotyping, fluid biomarkers, neuroimaging, neuropsychometric test, and clinical assessments...
December 2016: EURASIP Journal on Bioinformatics & Systems Biology
Arnald Alonso, Antonio Julià, Maria Vinaixa, Eugeni Domènech, Antonio Fernández-Nebro, Juan D Cañete, Carlos Ferrándiz, Jesús Tornero, Javier P Gisbert, Pilar Nos, Ana Gutiérrez Casbas, Lluís Puig, Isidoro González-Álvaro, José A Pinto-Tasende, Ricardo Blanco, Miguel A Rodríguez, Antoni Beltran, Xavier Correig, Sara Marsal
BACKGROUND: Immune-mediated inflammatory diseases (IMIDs) are a group of complex and prevalent diseases where disease diagnostic and activity monitoring is highly challenging. The determination of the metabolite profiles of biological samples is becoming a powerful approach to identify new biomarkers of clinical utility. In order to identify new metabolite biomarkers of diagnosis and disease activity, we have performed the first large-scale profiling of the urine metabolome of the six most prevalent IMIDs: rheumatoid arthritis, psoriatic arthritis, psoriasis, systemic lupus erythematosus, Crohn's disease, and ulcerative colitis...
2016: BMC Medicine
Michael Nagler, Tamam Bakchoul
A rapid diagnostic work-up is required in patients with suspected heparin-induced thrombocytopenia (HIT). However, diagnosis of HIT is challenging due to a number of practical issues and methodological limitations. Many laboratory tests and a few clinical scoring systems are available but the individual characteristics and the diagnostic accuracy of these are hard to appraise. The 4Ts score is a well evaluated clinical assessment tool with the potential to rule out HIT in many patients. Still, it requires experience and is subject to a relevant inter-observer variability...
September 8, 2016: Thrombosis and Haemostasis
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