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Precision medicine review

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https://www.readbyqxmd.com/read/29455084/nherf1-between-promises-and-hopes-overview-on-cancer-and-prospective-openings
#1
REVIEW
Matteo Centonze, Concetta Saponaro, Anita Mangia
Na+ /H+ exchanger regulatory factor 1 (NHERF1) is a scaffold protein, with two tandem PDZ domains and a carboxyl-terminal ezrin-binding (EB) region. This particular sticky structure is responsible for its interaction with different molecules to form multi-complexes that have a pivotal role in a lot of diseases. In particular, its involvement during carcinogenesis and cancer progression has been deeply analyzed in different tumors. The role of NHERF1 is not unique in cancer; its activity is connected to its subcellular localization...
February 15, 2018: Translational Oncology
https://www.readbyqxmd.com/read/29453029/systems-biology-of-the-human-microbiome
#2
REVIEW
Beatriz Peñalver Bernabé, Lauren Cralle, Jack A Gilbert
Recent research has shown that the microbiome-a collection of microorganisms, including bacteria, fungi, and viruses, living on and in a host-are of extraordinary importance in human health, even from conception and development in the uterus. Therefore, to further our ability to diagnose disease, to predict treatment outcomes, and to identify novel therapeutics, it is essential to include microbiome and microbial metabolic biomarkers in Systems Biology investigations. In clinical studies or, more precisely, Systems Medicine approaches, we can use the diversity and individual characteristics of the personal microbiome to enhance our resolution for patient stratification...
February 13, 2018: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/29449955/prospects-for-precision-medicine-in-glomerulonephritis-treatment
#3
REVIEW
Yulu Cherry Liu, Justin Chun
Background: Glomerulonephritis (GN) consists of a group of kidney diseases that are categorized based on shared histopathological features. The current classifications for GN make it difficult to distinguish the individual variability in presentation, disease progression, and response to treatment. GN is a significant cause of end-stage renal disease (ESRD), and improved therapies are desperately needed because current immunosuppressive therapies sometimes lack efficacy and can lead to significant toxicities...
2018: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/29449090/clinical-and-molecular-characteristics-and-burden-of-kidney-cancer-among-hispanics-and-native-americans-steps-toward-precision-medicine
#4
Ken Batai, Andrew Bergersen, Elinora Price, Kieran Hynes, Nathan A Ellis, Benjamin R Lee
Cancer disparities in Native Americans (NAs) and Hispanic Americans (HAs) vary significantly in terms of cancer incidence and mortality rates across geographic regions. This review reports that kidney and renal pelvis cancers are unevenly affecting HAs and NAs compared to European Americans of non-Hispanic origin, and that currently there is significant need for improved data and reporting to be able to advance toward genomic-based precision medicine for the assessment of such cancers in these medically underserved populations...
February 12, 2018: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29446868/the-amyloid-polymorphism-in-the-protein-folding-and-aggregation-energy-landscape
#5
Raffaele Mezzenga, Jozef Adamcik
Protein folding (and misfolding) is of paramount importance to an extraordinary vast class of fields, spanning from biochemistry to biology, medicine, biophysics and statistical thermodynamics. The folding process involves a large number of steps and conformations in which the folding protein samples different thermodynamic states characterized by local minima and activation energies in between. The kinetically trapped on- or off-pathway intermediates identifying the relative minima are metastable folding intermediates towards the lowest absolute energy minima, which have been postulated to be the natively folded state for the regime in which the intramolecular interactions dominate, and the amyloid status for the regime where intermolecular interactions rule...
February 15, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29438006/statistics-refresher-for-molecular-imaging-technologists-part-2-accuracy-of-interpretation-significance-and-variance
#6
Mary Beth Farrell
This article is the second part of continuing education series reviewing basic statistics that nuclear medicine and molecular imaging technologists should understand. In this article, the statistics for evaluating interpretation accuracy, significance and variance are discussed. Throughout the article, actual statistics are pulled from published literature. Part two begins by explaining two methods for quantifying interpretive accuracy: inter-reader and intra-reader reliability. Agreement among readers can simply be expressed by percentage...
February 2, 2018: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/29436242/prediction-in-obstructive-sleep-apnoea-diagnosis-comorbidity-risk-and-treatment-outcomes
#7
Kate Sutherland, Fernanda R Almeida, Philip de Chazal, Peter A Cistulli
Obstructive sleep apnoea (OSA) is common disorder, under-diagnosed, and can be difficult to treat adequately across the lifespan. OSA is a heterogeneous disorder with different risk factors, clinical presentations, pathophysiology and morbidity. Prediction has an important role in OSA recognition and management, embodied in screening methods to circumvent the need for diagnosis by overnight sleep studies and prediction of treatment efficacy and adherence. Other opportunities exist in predicting susceptibility to comorbidity and health outcomes...
February 13, 2018: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/29431584/horizon-scanning-how-will-metabolomics-applications-transform-food-science-bioengineering-and-medical-innovation-in-the-current-era-of-foodomics
#8
Mustafa Bayram, Çağlar Gökırmaklı
Food and engineering sciences have tended to neglect the importance of human nutrition sciences and clinical study of new molecules discovered by food engineering community, and vice versa. Yet, the value of systems thinking and use of omics technologies in food engineering are rapidly emerging. Foodomics is a new concept and practice to bring about "precision nutrition" and integrative bioengineering studies of food composition, quality, and safety, and applications to improve health of humans, animals, and other living organisms on the planet...
February 12, 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29428560/enabling-personalized-implant-and-controllable-biosystem-development-through-3d-printing
#9
REVIEW
Neerajha Nagarajan, Agnes Dupret-Bories, Erdem Karabulut, Pinar Zorlutuna, Nihal Engin Vrana
The impact of additive manufacturing in our lives has been increasing constantly. One of the frontiers in this change is the medical devices. 3D printing technologies not only enable the personalization of implantable devices with respect to patient-specific anatomy, pathology and biomechanical properties but they also provide new opportunities in related areas such as surgical education, minimally invasive diagnosis, medical research and disease models. In this review, we cover the recent clinical applications of 3D printing with a particular focus on implantable devices...
February 8, 2018: Biotechnology Advances
https://www.readbyqxmd.com/read/29426806/neonatal-epilepsies-clinical-management
#10
REVIEW
Marie-Coralie Cornet, Tristan T Sands, Maria Roberta Cilio
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). Historically, studies on treatment response and long-term consequences of neonatal seizures have lumped all etiologies together...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29424315/recent-approaches-in-the-development-of-phytolipid-complexes-as-novel-drug-delivery
#11
Nandkishor S Talware, Remeth J Dias, V Rama Mohan Gupta
The imbalance of hydrophilicity, and lipophilicity along with, a large molecular size (due to a unique chemical structure) of natural compounds, or plant actives pose a significant challenge for their absorption through a biological membrane and thus, alters the therapeutic efficacy. Therefore, it is desirable to have a novel approach for such formulation in order to improve the solubility and bioavailability, of these phytoconstituents as a phospholipid complexation. Herbal drugs are precisely, embedded and bound by phospholipids to form vesicular structures, which are amphoteric in nature...
February 8, 2018: Current Drug Delivery
https://www.readbyqxmd.com/read/29420101/leveraging-genomics-for-head-and-neck-cancer-treatment
#12
J D Kemmer, D E Johnson, J R Grandis
The genomic landscape of head and neck squamous cell carcinoma (HNSCC) has been recently elucidated. Key epigenetic and genetic characteristics of this cancer have been reported and substantiated in multiple data sets, including those distinctive to the growing subset of human papilloma virus (HPV)-associated tumors. This increased understanding of the molecular underpinnings of HNSCC has not resulted in new approaches to treatment. Three Food and Drug Administration-approved molecular targeting agents are currently available to treat recurrent/metastatic disease, but these have exhibited efficacy only in subsets of HNSCC patients, and thus surgery, chemotherapy, and/or radiation remain as standard approaches...
February 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29417823/drug-induced-pulmonary-arterial-hypertension-a-primer-for-clinicians-and-scientists
#13
Mark E Orcholski, Ke Yuan, Charlotte Rajasingh, Halley Tsai, Elya A Shamskhou, Navneet Kaur Dhillon, Norbert F Voelkel, Roham T Zamanian, Vinicio A de Jesus Perez
Drug-induced pulmonary arterial hypertension (D-PAH) is a form of World Health Organization (WHO) Group 1 pulmonary hypertension (PH) defined by severe small vessel loss and obstructive vasculopathy, which leads to progressive right heart failure and death. To date, 16 different compounds have been associated with D-PAH, including anorexigens, recreational stimulants, and more recently, several Food and Drug Administration (FDA)-approved medications. While the clinical manifestation, pathology, and hemodynamic profile of D-PAH are indistinguishable from other forms of PAH, its clinical course can be unpredictable and to some degree dependent on removal of the offending agent...
February 8, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29413424/gastrointestinal-stromal-tumors-the-gist-of-precision-medicine
#14
REVIEW
Lin Mei, Steven C Smith, Anthony C Faber, Jonathan Trent, Steven R Grossman, Constantine A Stratakis, Sosipatros A Boikos
The discovery of activated KIT mutations in gastrointestinal (GI) stromal tumors (GISTs) in 1998 triggered a sea change in our understanding of these tumors and has ushered in a new paradigm for the use of molecular genetic diagnostics to guide targeted therapies. KIT and PDGFRA mutations account for 85-90% of GISTs; subsequent genetic studies have led to the identification of mutation/epimutation of additional genes, including the succinate dehydrogenase (SDH) subunit A, B, C, and D genes. This review focuses on integrating findings from clinicopathologic, genetic, and epigenetic studies, which classify GISTs into two distinct clusters: an SDH-competent group and an SDH-deficient group...
January 2018: Trends in Cancer
https://www.readbyqxmd.com/read/29409513/efficient-differentially-private-learning-improves-drug-sensitivity-prediction
#15
Antti Honkela, Mrinal Das, Arttu Nieminen, Onur Dikmen, Samuel Kaski
BACKGROUND: Users of a personalised recommendation system face a dilemma: recommendations can be improved by learning from data, but only if other users are willing to share their private information. Good personalised predictions are vitally important in precision medicine, but genomic information on which the predictions are based is also particularly sensitive, as it directly identifies the patients and hence cannot easily be anonymised. Differential privacy has emerged as a potentially promising solution: privacy is considered sufficient if presence of individual patients cannot be distinguished...
February 6, 2018: Biology Direct
https://www.readbyqxmd.com/read/29408543/precision-medicine-in-cow-milk-allergy-proteomics-perspectives-from-allergens-to-patients
#16
Enza D' Auria, Chiara Mameli, Cristian Piras, Lucia Cococcioni, Andrea Urbani, Gian Vincenzo Zuccotti, Paola Roncada
Cow's milk allergy (CMA) is one of the most common food allergies, especially during childhood. CMA is an immunological mediated adverse reaction to one or more cow's milk proteins, which are normally harmless to a non-allergic individual, as the result of a failure of oral tolerance. To make a correct diagnosis of CMA and a proper treatment are critical in clinical practice. Application of proteomics along with new bio-informatics tools in the field of food allergy is one of the hot topics presented in recent years...
February 3, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29407013/contemporary-emergency-department-management-of-patients-with-chest-pain-a-concise-review-and-guide-for-the-high-sensitivity-troponin-era
#17
REVIEW
James E Andruchow, Peter A Kavsak, Andrew D McRae
This article synthesizes current best evidence for the evaluation of patients with suspected acute coronary syndrome (ACS) using high-sensitivity troponin assays, enabling physicians to effectively incorporate them into practice. Unlike conventional assays, high-sensitivity assays can precisely measure blood cardiac troponin concentrations in the vast majority of healthy individuals, facilitating the creation of rapid diagnostic algorithms. Very low troponin concentrations on presentation accurately rule out acute myocardial infarction (AMI) and enable the discharge of approximately 20% of patients after a single test, whereas an additional 30%-40% of patients can be safely discharged after short-interval serial sampling in as little as 1 or 2 hours...
February 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29406361/precision-medicine-in-the-treatment-of-primary-immunodeficiency-diseases
#18
Jennifer W Leiding, Mark Ballow
PURPOSE OF THE REVIEW: Since the 1990s with the advances in molecular biology, a number of genetic defects have been described. The International Union of Immunological Sciences has recently updated the classification of genetic defects associated with primary immune deficiencies that now number 354. With the ever-expanding list of new monogenic disorders and a better understanding of the immunobiology and function of these defective genes, new therapies have emerged particularly aimed at the autoimmune and inflammatory conditions that plague these patients...
February 5, 2018: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29405770/liquid-biopsy-and-its-role-in-an-advanced-clinical-trial-for-lung-cancer
#19
Donald J Johann, Mathew Steliga, Ik J Shin, Donghoon Yoon, Konstantinos Arnaoutakis, Laura Hutchins, Meeiyueh Liu, Jason Liem, Karl Walker, Andy Pereira, Mary Yang, Susanne K Jeffus, Erich Peterson, Joshua Xu
Liquid biopsy methodologies, for the purpose of plasma genotyping of cell-free DNA (cfDNA) of solid tumors, are a new class of novel molecular assays. Such assays are rapidly entering the clinical sphere of research-based monitoring in translational oncology, especially for thoracic malignancies. Potential applications for these blood-based cfDNA assays include: (i) initial diagnosis, (ii) response to therapy and follow-up, (iii) tumor evolution, and (iv) minimal residual disease evaluation. Precision medicine will benefit from cutting-edge molecular diagnostics, especially regarding treatment decisions in the adjuvant setting, where avoiding over-treatment and unnecessary toxicity are paramount...
February 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29399533/pathogenesis-of-thrombosis-cellular-and-pharmacogenetic-contributions
#20
REVIEW
Dileep D Monie, Emma P DeLoughery
Our understanding of thrombosis formation has evolved significantly ever since physician Rudolf Virchow proposed his "triad" theory in 1856. Modern science has elucidated the mechanisms of stasis, hypercoagulability, and endothelial dysfunction. Today, we have a firm understanding of the key molecular factors involved in the coagulation cascade and fibrinolytic system, as well as the underlying genetic influences. This knowledge of cellular and genetic contributors has been translated into diverse pharmaceutical interventions...
December 2017: Cardiovascular Diagnosis and Therapy
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