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https://www.readbyqxmd.com/read/28719907/tumor-heterogeneity-in-lymphomas-a-different-breed
#1
Christian M Schürch, Birgit Federmann, Leticia Quintanilla-Martinez, Falko Fend
The facts that cancer represents tissues consisting of heterogeneous neoplastic, as well as reactive, cell populations and that cancers of the same histotype may show profound differences in clinical behavior have long been recognized. With the advent of new technologies and the demands of precision medicine, the investigation of tumor heterogeneity has gained much interest. An understanding of intertumoral heterogeneity in patients with the same disease entity is necessary to optimally guide personalized treatment...
July 19, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28714878/integrated-metabolomics-assessment-of-human-dried-blood-spots-and-urine-strips
#2
Jeremy Drolet, Vladimir Tolstikov, Brian A Williams, Bennett P Greenwood, Collin Hill, Vivek K Vishnudas, Rangaprasad Sarangarajan, Niven R Narain, Michael A Kiebish
(1) Background: Interest in the application of metabolomics toward clinical diagnostics development and population health monitoring has grown significantly in recent years. In spite of several advances in analytical and computational tools, obtaining a sufficient number of samples from patients remains an obstacle. The dried blood spot (DBS) and dried urine strip (DUS) methodologies are a minimally invasive sample collection method allowing for the relative simplicity of sample collection and minimal cost...
July 15, 2017: Metabolites
https://www.readbyqxmd.com/read/28712098/precision-medicine-in-metastatic-colorectal-cancer-relevant-carcinogenic-pathways-and-targets-part-1-biologic-therapies-targeting-the-epidermal-growth-factor-receptor-and-vascular-endothelial-growth-factor
#3
REVIEW
Benjamin A Weinberg, Marion L Hartley, Mohamed E Salem
The survival of patients with metastatic colorectal cancer has improved dramatically in recent years, with overall survival exceeding 3 years in large randomized clinical trials. There are now several treatment options for patients with metastatic colorectal cancer. In addition to chemotherapy backbones utilizing fluoropyrimidine, oxaliplatin, and irinotecan combinations, biologic agents that target specific oncogenic pathways have contributed to the improved survival observed in this patient population. This class of medications includes epidermal growth factor receptor (EGFR)-targeted drugs (cetuximab and panitumumab) and vascular endothelial growth factor (VEGF)-targeted therapies (bevacizumab, ramucirumab, ziv-aflibercept, and regorafenib)...
July 15, 2017: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/28706720/endotype-driven-treatment-in-chronic-upper-airway-diseases
#4
REVIEW
Glynnis De Greve, Peter W Hellings, Wytske J Fokkens, Benoit Pugin, Brecht Steelant, Sven F Seys
Rhinitis and rhinosinusitis are the two major clinical entities of chronic upper airway disease. Chronic rhinosinusitis (CRS) and allergic rhinitis (AR) affect respectively up to 10 and 30% of the total population, hence being associated with an important socio-economic burden. Different phenotypes of rhinitis and CRS have been described based on symptom severity and duration, atopy status, level of control, comorbidities and presence or absence of nasal polyps in CRS. The underlying pathophysiological mechanisms are diverse, with different, and sometimes overlapping, endotypes being recognized...
2017: Clinical and Translational Allergy
https://www.readbyqxmd.com/read/28700417/genetics-of-paediatric-cardiomyopathies
#5
Stephanie M Ware
PURPOSE OF REVIEW: Paediatric cardiomyopathy is a rare disease with a genetic basis. The purpose of this review is to discuss the current status of genetic findings in the paediatric cardiomyopathy population and present recent progress in utilizing this information for management and therapy. RECENT FINDINGS: With increased clinical genetic testing, an understanding of the genetic causes of cardiomyopathy is improving and novel causes are identified at a rapid rate...
July 11, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28700415/the-role-of-monogenic-disease-in-children-with-very-early-onset-inflammatory-bowel-disease
#6
Judith R Kelsen, Robert N Baldassano
PURPOSE OF REVIEW: Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic intestinal microbes, resulting in chronic intestinal inflammation. Patients diagnosed with IBD occurring before the age of 5 are a unique population, known as very early onset (VEO)-IBD and can be phenotypically and genetically distinct from older-onset IBD. We aim to review the clinical presentation of children with VEO-IBD and recent discoveries that point to genomic drivers of disease that may impact our therapeutic decisions...
July 11, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28699186/cancer-related-systemic-inflammation-the-challenges-and-therapeutic-opportunities-for-personalized-medicine
#7
Diana Shinko, Connie I Diakos, Stephen J Clarke, Kellie A Charles
Over the last decade there has been significant progress towards the development of personalized or "precision" medicine for many patients with cancer. However, there still remain sub-populations of cancer patients that do not possess a tumor mutation profile that is successfully targeted by the newer molecular anti-cancer drugs and further personalized approaches are needed. The presence of cancer-related systemic inflammation represents an under-appreciated sub-population of cancer patients needing personalized therapy...
July 12, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28698171/natural-compounds-for-the-treatment-of-psoriatic-arthritis-a-proposal-based-on-multi-targeted-osteoclastic-regulation-and-on-a-preclinical-study
#8
Shiqiang Deng, Jianwen Cheng, Jinmin Zhao, Felix Yao, Jiake Xu
BACKGROUND: Psoriatic arthritis (PsA) is a chronic inflammatory arthritis affecting approximately 2% to 3% of the population globally, and is characterized by both peripheral articular manifestations and axial skeletal involvement. Conventional therapies for PsA have not been fully satisfactory, though natural products (NPs) have been shown to be highly effective and represent important treatment options for psoriasis. PsA is a multigenic autoimmune disease with both environmental and genetic factors contributing to its pathogenesis...
July 11, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28688266/neural-hormonal-responses-to-negative-affective-stimuli-impact-of-dysphoric-mood-and-sex
#9
K Mareckova, L Holsen, R Admon, S Whitfield-Gabrieli, L J Seidman, S L Buka, A Klibanski, J M Goldstein
BACKGROUND: Maladaptive responses to negative affective stimuli are pervasive, including clinically ill and healthy people, and men and women respond differently at neural and hormonal levels. Inspired by the Research Domain Criteria initiative, we used a transdiagnostic approach to investigate the impact of sex and dysphoric mood on neural-hormonal responses to negative affective stimuli. METHODS: Participants included 99 individuals with major depressive disorder, psychosis and healthy controls...
June 28, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28686333/ehealth-provides-a-novel-opportunity-to-exploit-the-advantages-of-the-nordic-countries-in-psychiatric-genetic-research-building-on-the-public-health-care-system-biobanks-and-registries
#10
REVIEW
Ole A Andreassen
Nordic countries have played an important role in the recent progress in psychiatric genetics, both with large well-characterized samples and expertise. The Nordic countries have research advantages due to the organization of their societies, including system of personal identifiers, national health registries with information about diseases, treatment and prescriptions, and a public health system with geographical catchment areas. For psychiatric genetic research, the large biobanks and population surveys are a unique added value...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28684173/revolution-of-resting-state-functional-neuroimaging-genetics-in-alzheimer-s-disease
#11
REVIEW
Patrizia A Chiesa, Enrica Cavedo, Simone Lista, Paul M Thompson, Harald Hampel
The quest to comprehend genetic, biological, and symptomatic heterogeneity underlying Alzheimer's disease (AD) requires a deep understanding of mechanisms affecting complex brain systems. Neuroimaging genetics is an emerging field that provides a powerful way to analyze and characterize intermediate biological phenotypes of AD. Here, we describe recent studies showing the differential effect of genetic risk factors for AD on brain functional connectivity in cognitively normal, preclinical, prodromal, and AD dementia individuals...
July 3, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28675654/bioinformatory-assisted-analysis-of-next-generation-sequencing-data-for-precision-medicine-in-pancreatic-cancer
#12
Linnéa Malgerud, Johan Lindberg, Valtteri Wirta, Maria Gustafsson-Liljefors, Masoud Karimi, Carlos Fernández Moro, Katrin Stecker, Alexander Picker, Carolin Huelsewig, Martin Stein, Regina Bohnert, Marco Del Chiaro, Stephan L Haas, Rainer L Heuchel, Johan Permert, Markus J Maeurer, Stephan Brock, Caroline S Verbeke, Lars Engstrand, David B Jackson, Henrik Grönberg, J-Matthias Löhr
Pancreatic ductal adenocarcinoma (PDAC) is a tumor with an extremely poor prognosis, predominantly due to chemotherapy resistance and numerous somatic mutations. Consequently, PDAC is a prime candidate for the use of sequencing to identify causative mutations, facilitating subsequent administration of targeted therapy. In a feasibility study, we retrospectively assessed the therapeutic recommendations of a novel, evidence-based software that analyzes Next-generation sequencing (NGS) data using a large panel of pharmacogenomic biomarkers for efficacy and toxicity...
July 4, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28674227/a-systematic-analysis-of-the-association-studies-between-casp8-d302h-polymorphisms-and-breast-cancer-risk
#13
Yinliang Zhang, Wei Li, Yi Hong, Guoying Wu, Kan He, Dahai Liu
Caspase 8 (CASP8) is a regulator of apoptosis, whose genetic variation has been reported to be associated with the risk of various cancers. Especially, the single-nucleotide polymorphism (SNP) rs1045485, which generates the substitution D302H in CASP8, is likely to be associated with breast cancer. Several previous studies have reported the association of CASP8 D302H polymorphism with breast cancer; however, the results are inconsistent. To validate the association between CASP8 D302H polymorphism and breast cancer risk, we performed an updated meta-analysis of 18 studies including 27,807 cases and 32,332 controls...
June 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28650065/review-of-the-novelties-from-the-32nd-ectrims-congress-2016-presented-at-the-9th-post-ectrims-meeting-i
#14
REVIEW
O Fernandez, A Oterino, C Oreja-Guevara, J M Prieto, M M Mendibe-Bilbao, J A Garcia-Merino, Ll Ramio-Torrenta, R Ginestal, J E Meca-Lallana, L Romero-Pinel, D Munoz, P Oliva-Nacarino, M C Calles-Hernandez, G Izquierdo, M L Martinez-Gines, A Saiz, M Comabella, B Casanova-Estruch, Ll Brieva, R Arroyo, A Rodriguez-Antiguedad
For the ninth year in a row the Post-ECTRIMS Meeting has been held in Madrid (Spain) with the aim of presenting and discussing the hottest issues debated at the ECTRIMS Congress by renowned specialists in multiple sclerosis in our country. One outcome of this scientific activity, endorsed by the Spanish Neurology Society, is this review article, which is published in two parts. This first part addresses family planning, pregnancy management and the role of breastfeeding in women with multiple sclerosis. Attention is drawn to the paediatric population, to magnetic resonance imaging features and to the genetic-environmental risk factors for developing the disease in children, without neglecting the risk factors for development in adults...
July 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28640681/crowdsourced-health-data-comparability-to-a-us-national-survey-2013-2015
#15
Veronica Yank, Sanjhavi Agarwal, Pooja Loftus, Steven Asch, David Rehkopf
OBJECTIVES: To determine the generalizability of crowdsourced, electronic health data from self-selected individuals using a national survey as a reference. METHODS: Using the world's largest crowdsourcing platform in 2015, we collected data on characteristics known to influence cardiovascular disease risk and identified comparable data from the 2013 Behavioral Risk Factor Surveillance System. We used age-stratified logistic regression models to identify differences among groups...
August 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28638141/al-mena-a-comprehensive-resource-of-human-genetic-variants-integrating-genomes-and-exomes-from-arab-middle-eastern-and-north-african-populations
#16
Remya Koshy, Anop Ranawat, Vinod Scaria
Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28636631/incidence-and-mortality-due-to-snakebite-in-the-americas
#17
Jean-Philippe Chippaux
BACKGROUND: Better knowledge of the epidemiological characteristics of snakebites could help to take measures to improve their management. The incidence and mortality of snakebites in the Americas are most often estimated from medical and scientific literature, which generally lack precision and representativeness. METHODOLOGY/PRINCIPAL FINDINGS: Authors used the notifications of snakebites treated in health centers collected by the Ministries of Health of the American countries to estimate their incidence and mortality...
June 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28636403/applying-precision-medicine-to-trial-design-using-physiology-extracorporeal-co2-removal-for-ards
#18
Ewan C Goligher, Marcelo B P Amato, Arthur S Slutsky
In clinical trials of therapies for ARDS, the average treatment effect in the study population may be attenuated because individual patient responses vary widely. This inflates sample size requirements and increases the cost and difficulty of conducting successful clinical trials. One solution is to enrich the study population with patients most likely to benefit based on predicted patient response to treatment (predictive enrichment). In this perspective, we apply the precision medicine paradigm to the emerging use of extracorporeal CO2 removal (ECCO2R) for ultra-protective ventilation in ARDS...
June 21, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28633205/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#19
EDITORIAL
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, Timothy J Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group of experts from June 2 to 3, 2016, in Bethesda, Maryland, to develop NHLBI recommendations aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MCS devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
July 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28633144/standardized-renal-endpoints-for-perioperative-clinical-trials-the-standardized-endpoints-in-perioperative-medicine-initiative
#20
David R McIlroy, Andrew D Shaw, Paul S Myles
Perioperative acute kidney injury is a common problem. While clinical trials seek to evaluate the impact of interventions on a variety of primary and secondary endpoints with the aim of implementing this knowledge to improve perioperative outcomes, the use of valid and relevant endpoints within clinical trials is of critical importance to achieving this goal. Suitable endpoints must be validated for the study population and in light of the clinical context under investigation while also considering regulatory requirements that govern the licensing of new therapeutic agents as well as the values of patients whose outcomes we seek to improve...
June 21, 2017: Nephron
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