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Clinical pathway diagnostic test

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https://www.readbyqxmd.com/read/29030400/microrna-signature-of-cigarette-smoking-and-evidence-for-a-putative-causal-role-of-micrornas-in-smoking-related-inflammation-and-target-organ-damage
#1
Christine M Willinger, Jian Rong, Kahraman Tanriverdi, Paul L Courchesne, Tianxiao Huan, Gregory A Wasserman, Honghuang Lin, Josée Dupuis, Roby Joehanes, Matthew R Jones, George Chen, Emelia J Benjamin, George T O'Connor, Joseph P Mizgerd, Jane E Freedman, Martin G Larson, Daniel Levy
BACKGROUND: Cigarette smoking increases risk for multiple diseases. MicroRNAs regulate gene expression and may play a role in smoking-induced target organ damage. We sought to describe a microRNA signature of cigarette smoking and relate it to smoking-associated clinical phenotypes, gene expression, and lung inflammatory signaling. METHODS AND RESULTS: Expression profiling of 283 microRNAs was conducted on whole blood-derived RNA from 5023 Framingham Heart Study participants (54...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29021832/pharmacogenomics-in-the-treatment-of-mood-disorders-strategies-and-opportunities-for-personalized-psychiatry
#2
REVIEW
Azmeraw T Amare, Klaus Oliver Schubert, Bernhard T Baune
Personalized medicine (personalized psychiatry in a specific setting) is a new model towards individualized care, in which knowledge from genomics and other omic pillars (microbiome, epigenomes, proteome, and metabolome) will be combined with clinical data to guide efforts to new drug development and targeted prescription of the existing treatment options. In this review, we summarize pharmacogenomic studies in mood disorders that may lay the foundation towards personalized psychiatry. In addition, we have discussed the possible strategies to integrate data from omic pillars as a future path to personalized psychiatry...
September 2017: EPMA Journal
https://www.readbyqxmd.com/read/28982554/the-genetics-of-endophenotypes-of-neurofunction-to-understand-schizophrenia-genus-consortium-a-collaborative-cognitive-and-neuroimaging-genetics-project
#3
Gabriëlla A M Blokland, Elisabetta C Del Re, Raquelle I Mesholam-Gately, Jorge Jovicich, Joey W Trampush, Matcheri S Keshavan, Lynn E DeLisi, James T R Walters, Jessica A Turner, Anil K Malhotra, Todd Lencz, Martha E Shenton, Aristotle N Voineskos, Dan Rujescu, Ina Giegling, René S Kahn, Joshua L Roffman, Daphne J Holt, Stefan Ehrlich, Zora Kikinis, Paola Dazzan, Robin M Murray, Marta Di Forti, Jimmy Lee, Kang Sim, Max Lam, Rick P F Wolthusen, Sonja M C de Zwarte, Esther Walton, Donna Cosgrove, Sinead Kelly, Nasim Maleki, Lisa Osiecki, Marco M Picchioni, Elvira Bramon, Manuela Russo, Anthony S David, Valeria Mondelli, Antje A T S Reinders, M Aurora Falcone, Annette M Hartmann, Bettina Konte, Derek W Morris, Michael Gill, Aiden P Corvin, Wiepke Cahn, New Fei Ho, Jian Jun Liu, Richard S E Keefe, Randy L Gollub, Dara S Manoach, Vince D Calhoun, S Charles Schulz, Scott R Sponheim, Donald C Goff, Stephen L Buka, Sara Cherkerzian, Heidi W Thermenos, Marek Kubicki, Paul G Nestor, Erin W Dickie, Evangelos Vassos, Simone Ciufolini, Tiago Reis Marques, Nicolas A Crossley, Shaun M Purcell, Jordan W Smoller, Neeltje E M van Haren, Timothea Toulopoulou, Gary Donohoe, Jill M Goldstein, Larry J Seidman, Robert W McCarley, Tracey L Petryshen
BACKGROUND: Schizophrenia has a large genetic component, and the pathways from genes to illness manifestation are beginning to be identified. The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) Consortium aims to clarify the role of genetic variation in brain abnormalities underlying schizophrenia. This article describes the GENUS Consortium sample collection. METHODS: We identified existing samples collected for schizophrenia studies consisting of patients, controls, and/or individuals at familial high-risk (FHR) for schizophrenia...
October 3, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28978068/analysis-of-long-non-coding-rna-expression-profiles-identifies-novel-lncrna-biomarkers-in-the-tumorigenesis-and-malignant-progression-of-gliomas
#4
Gang Chen, Yanfei Cao, Lina Zhang, Hongxing Ma, Chao Shen, Jiang Zhao
Long non-coding RNAs have been shown to be associated with cancer development and progression, demonstrating potential applications as novel diagnostic or prognostic molecular markers in clinical management and treatment. However, the functional significance of lncRNAs in the development and malignant progression of gliomas is still unclear and needed to be further explored. we first obtained genome-wide lncRNA expression profiles in a large cohort of patients with gliomas from the Gene Expression Omnibus database using microarray probes repurposing method and investigated the lncRNA expression patterns during the tumorigenesis and malignant progression of gliomas...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28973049/headache-exacerbates-pain-characteristics-in-temporomandibular-disorders
#5
Yuri Martins Costa, Dayse Regina Alves da Costa, Ana Paula de Lima Ferreira, André Luís Porporatti, Peter Svensson, Paulo César Rodrigues Conti, Leonardo Rigoldi Bonjardim
AIMS: To evaluate the impact of headache in adults with masticatory myofascial pain (MMP) on the outcome variables clinical pain (ie, self-reported pain intensity and pressure pain sensitivity), sleep quality, and pain catastrophizing. METHODS: A total of 97 patients with MMP were diagnosed with co-existing headache (MMPH group, n = 50) or without headache (MMP group, n = 47) according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD)...
October 3, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28968365/diagnosis-and-clinical-management-of-amyotrophic-lateral-sclerosis-and-other-motor-neuron-disorders
#6
Stephen A Goutman
PURPOSE OF REVIEW: This article reviews the clinical features, diagnostic pathway, therapies, and current understanding of the pathophysiology of amyotrophic lateral sclerosis (ALS). The spectrum of motor neuron diseases is reviewed, and the clinical heterogeneity of ALS is described. RECENT FINDINGS: ALS is increasingly recognized as a clinical spectrum disorder with pure upper and pure lower motor neuron presentations, supported by genetic links. The phenotypic variability is broad...
October 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28950061/sexual-dimorphism-age-and-fat-mass-are-key-phenotypic-drivers-of-proteomic-signatures
#7
Aoife M Curran, Colleen Fogarty Draper, Marie-Pier Scott-Boyer, Armand Valsesia, Helen M Roche, Miriam F Ryan, Michael J Gibney, Martina Kutmon, Chris T Evelo, Susan L Coort, Arne Astrup, Wim H Saris, Lorraine Brennan, Jim Kaput
Validated protein biomarkers are needed for assessing health trajectories, predicting and subclassifying disease, and optimizing diagnostic and therapeutic clinical decision-making. The sensitivity, specificity, accuracy, and precision of single or combinations of protein biomarkers may be altered by differences in physiological states limiting the ability to translate research results to clinically useful diagnostic tests. Aptamer based affinity assays were used to test whether low abundant serum proteins differed based on age, sex, and fat mass in a healthy population of 94 males and 102 females from the MECHE cohort...
October 4, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28948411/first-trimester-emergencies-a-radiologist-s-perspective
#8
REVIEW
Catherine H Phillips, Jeremy R Wortman, Elizabeth S Ginsburg, Aaron D Sodickson, Peter M Doubilet, Bharti Khurana
The purpose of this article is to help the practitioner ensure early diagnosis and response to emergencies in the first trimester by reviewing anatomy of the developing embryo, highlighting the sonographic appearance of common first-trimester emergencies, and discussing key management pathways for treating emergent cases. First-trimester fetal development is a stepwise process that can be challenging to evaluate in the emergency department (ED) setting. This is due, in part, to the complex anatomy of early pregnancy, subtlety of the sonographic findings, and the fact that fewer than half of patients with ectopic pregnancy present with the classic clinical findings of a positive pregnancy test, vaginal bleeding, pelvic pain, and tender adnexa...
September 25, 2017: Emergency Radiology
https://www.readbyqxmd.com/read/28944830/application-of-the-amniotic-fluid-metabolome-to-the-study-of-fetal-malformations-using-down-syndrome-as-a-specific-model
#9
Jun Huang, Jinhua Mo, Guili Zhao, Qiyin Lin, Guanhui Wei, Weinan Deng, Dunjin Chen, Bolan Yu
Although monitoring and diagnosis of fetal diseases in utero remains a challenge, metabolomics may provide an additional tool to study the etiology and pathophysiology of fetal diseases at a functional level. In order to explore specific markers of fetal disease, metabolites were analyzed in two separate sets of experiments using amniotic fluid from fetuses with Down syndrome (DS) as a model. Both sets included 10‑15 pairs of controls and cases, and amniotic fluid samples were processed separately; metabolomic fingerprinting was then conducted using UPLC‑MS...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28938569/evaluation-of-autoantibody-signatures-in-meningioma-patients-using-human-proteome-arrays
#10
Shabarni Gupta, Shuvolina Mukherjee, Parvez Syed, Narendra Goud Pandala, Saket Choudhary, Vedita Anand Singh, Namrata Singh, Heng Zhu, Sridhar Epari, Santosh B Noronha, Aliasgar Moiyadi, Sanjeeva Srivastava
Meningiomas are one of the most common tumors of the Central nervous system (CNS). This study aims to identify the autoantibody biomarkers in meningiomas using high-density human proteome arrays (~17,000 full-length recombinant human proteins). Screening of sera from 15 unaffected healthy individuals, 10 individuals with meningioma grade I and 5 with meningioma grade II was performed. This comprehensive proteomics based investigation revealed the dysregulation of 489 and 104 proteins in grades I and II of meningioma, respectively, along with the enrichment of several signalling pathways, which might play a crucial role in the manifestation of the disease...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28937963/ki67-and-lymphocytes-in-the-pretherapeutic-core-biopsy-of-primary-invasive-breast-cancer-positive-markers-of-therapy-response-prediction-and-superior-survival
#11
REVIEW
Claus M Schlotter, Lothar Tietze, Ulf Vogt, Carlos Villena Heinsen, Antje Hahn
Background Core needle biopsy plays a crucial role as diagnostic tool for BC. Both Ki67 and likely tumor-infiltrating lymphocytes (TILs) in the near future are determining the kind of systemic therapy. The role of TILs in BC is still an issue for clinical research, albeit preliminary results of neoadjuvant and adjuvant clinical studies already now highlight the crucial impact of TILs on therapy response and survival. Methods Evaluation of related publications (pubmed) and meeting abstracts (ASCO, SABCS). Results The monoclonal antibody Ki67 recognizing a nuclear antigene in proliferating cells is a positive marker of therapy response and superior survival...
September 22, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/28937595/the-diagnostic-prognostic-and-therapeutic-utility-of-molecular-testing-in-a-patient-with-waldenstrom-s-macroglobulinemia
#12
Collin K Chin, Connull Leslie, Carolyn S Grove, Chris Van Vliet, Chan Yoon Cheah
The application of molecular genomics and our understanding of its clinical implications in the diagnosis, prognostication and treatment of lymphoproliferative disorders has rapidly evolved over the past few years. Of particular importance are indolent B-cell malignancies where tumour cell survival and proliferation are commonly driven by mutations involving the B-cell receptor and downstream signalling pathways. In addition, the increasing number of novel therapies and targeted agents have provided clinicians with new therapeutic options with the aim of exploiting such mutations...
September 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28928423/use-of-an-individual-based-model-to-control-transmission-pathways-of-mycobacterium-avium-subsp-paratuberculosis-infection-in-cattle-herds
#13
M A Al-Mamun, R L Smith, Y H Schukken, Y T Gröhn
Johne's disease (JD) is a chronic enteric disease in cattle caused by Mycobacterium avian subsp. paratuberculosis (MAP). Eradicating JD is a difficult task due to the long incubation period of MAP, inefficient diagnostic tests, and delayed clinical signs. Effective control strategies can help farmers to reduce prevalence, but those most acceptable to farmers combine specific information about lactation performance and testing results, which existing models do not provide. This paper presents an individual-based model of MAP infection dynamics and assesses the relative performance of the applied alternative control strategies...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28919767/relationship-between-subtypes-and-symptoms-of-adhd-insomnia-and-nightmares-in-connection-with-quality-of-life-in-children
#14
Julia Grünwald, Angelika Anita Schlarb
OBJECTIVES: This study examined the links between sleep disorders and subtypes of attention deficit-hyperactivity disorder (ADHD-inattention, ADHD-combined, ADHD-hyperactive/impulsive) in childhood. We set up a hypothetical model linking different symptoms of both disorders to construct the underlying and shared pathways. By examining a sample of children with ADHD we firstly tested parts of the model. METHODS: A total of 72 children with symptoms of ADHD (aged 6-13 years; 79...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28917630/decision-making-about-healthcare-related-tests-and-diagnostic-strategies-international-guidelines-show-variability-in-their-approaches
#15
Reem A Mustafa, Wojtek Wiercioch, Ingrid Arevalo-Rodriguez, Adrienne Cheung, Barbara Prediger, Liudmila Ivanova, Matthew Ventresca, Jan Brozek, Nancy Santesso, Patrick Bossuyt, Amit X Garg, Nancy Lloyd, Monika Lelgemann, Diedrich Bühler, Holger Schünemann
OBJECTIVE: To describe and compare current practices in developing guidelines about the use of health care related tests and diagnostic strategies (HCTDS) STUDY DESIGN AND SETTING: We sampled 37 public health and clinical practice guidelines about HCTDS from various sources without language restrictions. RESULTS: Detailed descriptions of the systems used to assess the quality of evidence and develop recommendations were challenging to find within guidelines. We observed much variability among and within organizations with respect to how they develop recommendations about HCTDS...
September 13, 2017: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/28917629/decision-making-about-healthcare-related-tests-and-diagnostic-strategies-a-qualitative-study-with-experts-suggests-that-test-accuracy-data-alone-is-rarely-sufficient-for-decision-making
#16
Reem A Mustafa, Wojtek Wiercioch, Matthew Ventresca, Jan Brozek, Holger J Schünemann
OBJECTIVE: To identify the critical factors that determine recommendations and other decisions about health care related tests and diagnostic strategies (HCTDS). METHODS: We used a qualitative descriptive approach and conducted semi-structured in-depth interviews with 24 international experts (informants) in evidence and decisions about HCTDS. RESULTS: Although test accuracy (TA) was the factor most commonly considered by organizations when developing recommendations about HCTDS, informants agreed that TA is necessary but rarely, if ever, sufficient and may be misleading when solely considered...
September 13, 2017: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/28912730/diagnosis-of-swimming-induced-pulmonary-edema-a-review
#17
REVIEW
Hannes Grünig, Pantelis T Nikolaidis, Richard E Moon, Beat Knechtle
Swimming induced pulmonary edema (SIPE) is a complication that can occur during exercise with the possibility of misdiagnosis and can quickly become life threatening; however, medical literature infrequently describes SIPE. Therefore, the aim of this review was to analyse all individual cases diagnosed with SIPE as reported in scientific sources, with an emphasis on the diagnostic pathways and the key facts resulting in its diagnosis. Due to a multifactorial and complicated pathophysiology, the diagnosis could be difficult...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28886926/2017-focused-update-of-the-2016%C3%A2-acc%C3%A2-expert-consensus-decision-pathway-on-the-role-of-non-statin-therapies-for-ldl-cholesterol-lowering-in%C3%A2-the-management-of-atherosclerotic-cardiovascular-disease-risk-a-report-of-the-american-college-of-cardiology-task-force
#18
Donald M Lloyd-Jones, Pamela B Morris, Christie M Ballantyne, Kim K Birtcher, David D Daly, Sondra M DePalma, Margo B Minissian, Carl E Orringer, Sidney C Smith
In 2016, the American College of Cardiology published the first expert consensus decision pathway (ECDP) on the role of non-statin therapies for low-density lipoprotein (LDL)-cholesterol lowering in the management of atherosclerotic cardiovascular disease (ASCVD) risk. Since the publication of that document, additional evidence and perspectives have emerged from randomized clinical trials and other sources, particularly considering the longer-term efficacy and safety of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors in secondary prevention of ASCVD...
October 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28857783/a-critical-review-of-biomarkers-in-kidney-transplantation
#19
Kassem Safa, Ciara N Magee, Jamil Azzi
PURPOSE OF REVIEW: Improved long-term kidney allograft survival remains a critical goal in transplantation; the achievement of this, however, is highly dependent on the identification of biomarkers that can either predict or allow advance detection of patients at risk of allograft injury. The present review outlines the commonly used biomarkers in kidney transplantation, while also highlighting those currently under investigation, discussing their advantages and limitations. RECENT FINDINGS: Most of the approved biomarkers currently used in kidney transplantation capture antigen recognition or alloantibody production...
August 28, 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28853673/differentiation-of-hepatocellular-carcinoma-from-other-hepatic-malignancies-in-patients-at-risk-diagnostic-performance-of-the-liver-imaging-reporting-and-data-system-version-2014
#20
Tyler J Fraum, Richard Tsai, Eric Rohe, Daniel R Ludwig, Amber Salter, ILKe Nalbantoglu, Jay P Heiken, Kathryn J Fowler
Purpose To evaluate the diagnostic performance and interrater reliability of the Liver Imaging Reporting and Data System (LI-RADS) version 2014 in differentiating hepatocellular carcinoma (HCC) from non-HCC malignancy in a population of patients at risk for HCC. Materials and Methods This retrospective HIPAA-compliant institutional review board-approved study was exempt from informed consent. A total of 178 pathology-proven malignant liver masses were identified in 178 patients at risk for HCC but without established extrahepatic malignancy from August 2012 through August 2015...
August 29, 2017: Radiology
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