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Precision medicine review

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https://www.readbyqxmd.com/read/29932027/circulating-biomarkers-in-migraine-new-opportunities-for-precision-medicine
#1
Patrizia Ferroni, Piero Barbanti, Antonella Spila, Federica Fratangeli, Cinzia Aurilia, Luisa Fofi, Gabriella Egeo, Fiorella Guadagni
Background Migraine is the most common neurological disorder and the second most disabling human condition, whose pathogenesis is favored by a combination of genetic, epigenetic, and environmental factors. In recent years, several efforts have been made to identify reliable biomarker(s) useful to monitor disease activity and/or ascertain the response to a specific treatment. Objective To review the current evidence on the potential biological markers associated with migraine. Methods A structured search of peer-reviewed research literature was performed by searching major publications databases up to December 2017...
June 22, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29928492/liquid-biopsy-in-pancreatic-cancer-the-beginning-of-a-new-era
#2
REVIEW
Dipesh Kumar Yadav, Xueli Bai, Rajesh Kumar Yadav, Alina Singh, Guogang Li, Tao Ma, Wei Chen, Tingbo Liang
With dismal survival rate pancreatic cancer remains one of the most aggressive and devastating malignancy. Predominantly, due to the absence of a dependable methodology for early identification and limited therapeutic options for advanced disease. However, it takes over 17 years to develop pancreatic cancer from initiation of mutation to metastatic cancer; therefore, if diagnosed early; it may increase overall survival dramatically, thus, providing a window of opportunity for early detection. Recently, genomic expression analysis defined 4 subtypes of pancreatic cancer based on mutated genes...
June 1, 2018: Oncotarget
https://www.readbyqxmd.com/read/29927715/personalized-herbal-medicine-a-roadmap-for-convergence-of-herbal-and-precision-medicine-biomarker-innovations
#3
Nicholas Ekow Thomford, Kevin Dzobo, Emile Chimusa, Kerstin Andrae-Marobela, Shadreck Chirikure, Ambroise Wonkam, Collet Dandara
While drugs remain the cornerstone of medicine, herbal medicine is an important comedication worldwide. Thus, precision medicine ought to face this clinical reality and develop "companion diagnostics" for drugs as well as herbal medicines. Yet, many are in denial with respect to the extent of use of traditional/herbal medicines, overlooking that a considerable number of contemporary therapeutic drugs trace their discovery from herbal medicines. This expert review underscores that absent such appropriate attention on both classical drug therapy and herbal medicines, precision medicine biomarkers will likely not stand the full test of clinical practice while patients continue to use both drugs and herbal medicines and, yet the biomarker research and applications focus only (or mostly) on drug therapy...
June 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29926952/staging-and-grading-of-periodontitis-framework-and-proposal-of-a-new-classification-and-case-definition
#4
Maurizio S Tonetti, Henry Greenwell, Kenneth S Kornman
BACKGROUND: Authors were assigned the task to develop case definitions for periodontitis in the context of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions. The aim of this manuscript is to review evidence and rationale for a revision of the current classification, to provide a framework for case definition that fully implicates state-of-the-art knowledge and can be adapted as new evidence emerges, and to suggest a case definition system that can be implemented in clinical practice, research and epidemiologic surveillance...
June 2018: Journal of Periodontology
https://www.readbyqxmd.com/read/29926495/staging-and-grading-of-periodontitis-framework-and-proposal-of-a-new-classification-and-case-definition
#5
Maurizio S Tonetti, Henry Greenwell, Kenneth S Kornman
BACKGROUND: Authors were assigned the task to develop case definitions for periodontitis in the context of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions. The aim of this manuscript is to review evidence and rationale for a revision of the current classification, to provide a framework for case definition that fully implicates state-of-the-art knowledge and can be adapted as new evidence emerges, and to suggest a case definition system that can be implemented in clinical practice, research and epidemiologic surveillance...
June 2018: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/29925924/neuroimmune-disorders-of-the-central-nervous-system-in-children-in-the-molecular-era
#6
REVIEW
Elizabeth Wells, Yael Hacohen, Amy Waldman, Jan M Tillema, Ariane Soldatos, Beau Ances, Susanne Benseler, Bibi Bielekova, Russel C Dale, Josep Dalmau, William Gaillard, Mark Gorman, Benjamin Greenberg, Ann Hyslop, Carlos A Pardo, Robert C Tasker, E Ann Yeh, Amit Bar-Or, Sean Pittock, Adeline Vanderver, Brenda Banwell
Immune-mediated disorders of the CNS in children are a complex group of demyelinating, inflammatory, parainfectious and postinfectious disorders with heterogeneous pathobiological mechanisms and clinical manifestations, often associated with fundamental derangement in immune regulation. In this Review, we aim to provide an update on our knowledge of neuroimmune disorders and highlight areas of research that are priorities for improving clinical management. We outline the clinical features of neuroimmune disorders, the current approaches to their treatment and new approaches in development...
June 20, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29923484/3d-mri-segmentation-and-3d-circumferential-resection-margin-evaluation-for-a-standard-rectal-cancer-assessment
#7
L Lorenzon, F Bini, M Quatrale, A Biondi, R Persiani, M Di Pietropaolo, F Landolfi, E Iannicelli, F Marinozzi, G Balducci, D D'Ugo
AIM: Recent studies focused on rectal cancer suggested that a 3D imaging segmentation obtained from MRI data could contribute in the definition of the circumferential resection margin (CRM) and in the assessment of the tumor regression following neo-adjuvant treatments. Here, we propose a method for defining and visualizing the circumferential margins using 3D MRI segmentation; this methodology was tested in a clinical study comparing 3D CRM assessment vs standard MRI imaging. PATIENTS AND METHODS: MRI scans performed before neo-adjuvant treatments were selected and reviewed...
May 2018: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/29922965/machine-learning-from-radiomics-to-discovery-and-routine
#8
REVIEW
G Langs, S Röhrich, J Hofmanninger, F Prayer, J Pan, C Herold, H Prosch
Machine learning is rapidly gaining importance in radiology. It allows for the exploitation of patterns in imaging data and in patient records for a more accurate and precise quantification, diagnosis, and prognosis. Here, we outline the basics of machine learning relevant for radiology, and review the current state of the art, the limitations, and the challenges faced as these techniques become an important building block of precision medicine. Furthermore, we discuss the roles machine learning can play in clinical routine and research and predict how it might change the field of radiology...
June 19, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29921725/preanalytical-processing-and-biobanking-procedures-of-biological-samples-for-metabolomics-research-a-white-paper-community-perspective-for-precision-medicine-and-pharmacometabolomics-task-group-the-metabolomics-society-initiative
#9
REVIEW
Jennifer A Kirwan, Lorraine Brennan, David Broadhurst, Oliver Fiehn, Marta Cascante, Warwick B Dunn, Michael A Schmidt, Vidya Velagapudi
BACKGROUND: The metabolome of any given biological system contains a diverse range of low molecular weight molecules (metabolites), whose abundances can be affected by the timing and method of sample collection, storage, and handling. Thus, it is necessary to consider the requirements for preanalytical processes and biobanking in metabolomics research. Poor practice can create bias and have deleterious effects on the robustness and reproducibility of acquired data. CONTENT: This review presents both current practice and latest evidence on preanalytical processes and biobanking of samples intended for metabolomics measurement of common biofluids and tissues...
June 19, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29914743/the-use-of-lumacaftor-ivacaftor-to-treat-acute-deterioration-in-paediatric-cystic-fibrosis
#10
REVIEW
James A Hammond, Gary J Connett
Lumacaftor/ivacaftor is a precision medicine targeting the defective cystic fibrosis transmembrane regulator (CFTR) protein in cystic fibrosis (CF) patients homozygous for Phe508del genotype. Whilst there is evidence for efficacy in children aged 6-11 years who are stable with good lung function, there are little data about the use of this medication for children with acute deterioration in this age group. We describe the use of this drug to treat a child with an unusually severe exacerbation of CF lung disease and review the potential of lumacaftor/ivacaftor as a rescue therapy in the paediatric CF population...
May 19, 2018: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/29913182/the-genetic-architecture-of-type-1-diabetes-mellitus
#11
REVIEW
Denis M Nyaga, Mark H Vickers, Craig Jefferies, Jo K Perry, Justin M O'Sullivan
Type 1 diabetes mellitus (T1D) is a complex autoimmune disorder characterised by loss of the insulin-producing pancreatic beta cells in genetically predisposed individuals, ultimately resulting in insulin deficiency and hyperglycaemia. T1D is most common among children and young adults, and the incidence is on the rise across the world. The aetiology of T1D is hypothesized to involve genetic and environmental factors that result in the T-cell mediated destruction of pancreatic beta cells. There is a strong genetic risk to T1D; with genome-wide association studies (GWAS) identifying over 60 susceptibility regions within the human genome which are marked by single nucleotide polymorphisms (SNPs)...
June 15, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29912401/challenges-to-reshape-the-future-of-type-1-diabetes-research
#12
David Bleich, David H Wagner
Context: Immunotherapy trials to prevent type 1 diabetes have been unsuccessful for more than fifteen years. Understanding pitfalls and knowledge gaps in the immunology of type 1 diabetes should lead us in new directions that will yield better trial outcomes. A proposal is made for precision medicine trial design in future type 1 diabetes studies. Evidence Acquisition: High quality peer-reviewed basic science and clinical research trials for type 1 diabetes were used in this Perspectives article...
June 14, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29911108/emerging-application-of-genomics-guided-therapeutics-in-personalized-lung-cancer-treatment
#13
REVIEW
Aubhishek Zaman, Trever G Bivona
In lung cancer, genomics-driven comprehensive molecular profiling has identified novel chemically and immunologically addressable vulnerabilities, resulting in an increasing application of precision medicine by targeted inactivation of tumor oncogenes and immunogenic activation of host anti-tumor surveillance as modes of treatment. However, initially profound response of these targeted therapies is followed by relapse due to therapy-resistant residual disease states. Although distinct mechanisms and frameworks for therapy resistance have been proposed, accounting for and upfront prediction of resistance trajectories has been challenging...
May 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/29910645/resistance-to-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitors-t790m-and-clinical-trials
#14
REVIEW
G M O'Kane, T A Barnes, N B Leighl
Tumours with sensitizing mutations in the EGFR gene constitute a distinct molecular subgroup of non-small-cell lung cancers (nsclcs) that benefit from precision medicine. First- and second-generation epidermal growth factor receptor (egfr) tyrosine kinase inhibitors (tkis) are recommended as upfront therapy for EGFR -mutated advanced nsclc and, compared with chemotherapy, have resulted in superior progression-free survival, improved tumour response rates, and improved quality of life. However, resistance inevitably develops, and the third-generation tki osimertinib has been approved to target the gatekeeper EGFR mutation T790M, which is responsible for resistance in 60% of cases...
June 2018: Current Oncology
https://www.readbyqxmd.com/read/29908080/genotypes-phenotypes-and-treatment-with-immunomodulators-in-the-rheumatic-diseases
#15
REVIEW
Ronald F van Vollenhoven
The autoimmune rheumatological diseases rheumatoid arthritis (RA), spondyloarthritis (SpA) and systemic lupus erythematosus (SLE) are treated with conventional immunosuppressive agents and with modern biological immunomodulators. The latter group of medications have brought about a major change in our ability to control RA and SpA, with more modest results for SLE. The biologicals are very specific in their mechanisms of action, targeting one specific cytokine or one particular cellular marker. Because of this, their efficacy can readily be linked to a single immunomodulatory mechanism...
June 16, 2018: Journal of Internal Medicine
https://www.readbyqxmd.com/read/29907423/understanding-the-impact-of-sex-and-gender-in-alzheimer-s-disease-a-call-to-action
#16
Rebecca A Nebel, Neelum T Aggarwal, Lisa L Barnes, Aimee Gallagher, Jill M Goldstein, Kejal Kantarci, Monica P Mallampalli, Elizabeth C Mormino, Laura Scott, Wai Haung Yu, Pauline M Maki, Michelle M Mielke
INTRODUCTION: Precision medicine methodologies and approaches have advanced our understanding of the clinical presentation, development, progression, and management of Alzheimer's disease (AD) dementia. However, sex and gender have not yet been adequately integrated into many of these approaches. METHODS: The Society for Women's Health Research Interdisciplinary Network on AD, comprised of an expert panel of scientists and clinicians, reviewed ongoing and published research related to sex and gender differences in AD...
May 31, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29904888/olfactory-dysfunction-in-neurodegenerative-diseases
#17
REVIEW
Concepció Marin, Dolores Vilas, Cristóbal Langdon, Isam Alobid, Mauricio López-Chacón, Antje Haehner, Thomas Hummel, Joaquim Mullol
PURPOSE OF REVIEW: The sense of smell is today one of the focuses of interest in aging and neurodegenerative disease research. In several neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease, the olfactory dysfunction is one of the initial symptoms appearing years before motor symptoms and cognitive decline, being considered a clinical marker of these diseases' early stages and a marker of disease progression and cognitive decline. Overall and under the umbrella of precision medicine, attention to olfactory function may help to improve chances of success for neuroprotective and disease-modifying therapeutic strategies...
June 15, 2018: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/29899044/human-genetics-of-obesity-and-type-2-diabetes-mellitus-past-present-and-future
#18
REVIEW
Erik Ingelsson, Mark I McCarthy
Type 2 diabetes mellitus (T2D) and obesity already represent 2 of the most prominent risk factors for cardiovascular disease, and are destined to increase in importance given the global changes in lifestyle. Ten years have passed since the first round of genome-wide association studies for T2D and obesity. During this decade, we have witnessed remarkable developments in human genetics. We have graduated from the despair of candidate gene-based studies that generated few consistently replicated genotype-phenotype associations, to the excitement of an exponential harvest of loci robustly associated with medical outcomes through ever larger genome-wide association study meta-analyses...
June 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29898875/clinical-and-molecular-markers-in-copd
#19
I Gonçalves, M J Guimarães, M van Zeller, F Menezes, J Moita, P Simão
Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous disease, and there is a clinical need for validated markers and biomarkers that can contribute to the assessment of patients, risk prediction, treatment guidance, and assessment of response. Although according to the 2018 GOLD guidelines clinically useful biomarkers for COPD patients in stable condition have yet to be identified, several clinical markers and biomarkers have been proposed for COPD. These include isolated clinical markers, such as symptoms and Health Status assessment, exercise tests, function tests and imaging, and also composite scores and molecular markers...
June 10, 2018: Pulmonology
https://www.readbyqxmd.com/read/29897560/creating-a-common-language-defining-individualized-personalized-and-precision-prevention-in-public-health
#20
K Bíró, V Dombrádi, A Jani, K Boruzs, M Gray
Background: Because of the limited success of population-based prevention methods and due to developments in genomic screening, public health professionals and health policy makers are increasingly interested in more individualized prevention strategies. However, the terminology applied in this field is still ambiguous and thus has the potential to create misunderstandings. Methods: A narrative literature review was conducted to identify how individualized, personalized and precision prevention are used in research papers and documents...
April 20, 2018: Journal of Public Health
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