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Genetic algorithms in medicine

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https://www.readbyqxmd.com/read/28898880/personalized-management-of-cardiovascular-disorders
#1
Kewal K Jain
Personalized management of cardiovascular disorders (CVDs), also referred to as personalized or precision cardiology in accordance with general principles of personalized medicine, is the selection of best treatment for an individual patient. It involves the integration of various 'omics' technologies such as genomics and proteomics as well as other new technologies such as nanobiotechnology. Molecular diagnostics and biomarkers are important for linking diagnosis with therapy and monitoring of therapy. Because CVDs involve perturbations of large complex biological networks, a systems biology approach to CVD risk stratification may be used for improving risk-estimating algorithms and modeling of personalized benefit-of-treatment may be helpful for guiding choice of intervention...
September 11, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28885622/adult-onset-autoimmune-diabetes-current-knowledge-and-implications-for-management
#2
REVIEW
Raffaella Buzzetti, Simona Zampetti, Ernesto Maddaloni
Adult-onset autoimmune diabetes is a heterogeneous disease that is characterized by a reduced genetic load, a less intensive autoimmune process and a mild metabolic decompensation at onset compared with young-onset type 1 diabetes mellitus (T1DM). The majority of patients with adult-onset autoimmune diabetes do not require insulin treatment for at least 6 months after diagnosis. Such patients are defined as having latent autoimmune diabetes in adults (LADA), which is distinct from classic adult-onset T1DM. The extensive heterogeneity of adult-onset autoimmune diabetes is apparent beyond the distinction between classic adult-onset T1DM and LADA...
September 8, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28875852/molecular-modeling-studies-of-novel-fluoroquinolone-molecules
#3
Naresh Kumar Katari, Tejeswara Rao Allaka, Venkataramireddy Veeramreddy, Jaya Shree Anireddy
BACKGROUND: Fluoroquinolones have been the centre of considerable scientific and clinical interest due to their broad spectrum pharmacological activities. Pefloxacin is an analogue of norfloxacin, which is a 3rd generation of fluoroquinolone [5] antibiotic similar to ciprofloxacin. Pefloxacin is used to treat a variety of bacterial infections like respiratory tract, ear, nose and throat (ENT) infections, skin infections, urinary tract infections. Hydrazone as a pharmacophore unit that attract the medicinal chemists because of structure activity relationship (SAR) studies of fluoroquinolones especially the functionality at C-3 position...
August 29, 2017: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/28854079/identification-of-patients-with-statin-intolerance-in-a-managed-care-plan-a-comparison-of-2-claims-based-algorithms
#4
Brandon K Bellows, Amy M Sainski-Nguyen, Cody J Olsen, Susan H Boklage, Scott Charland, Matthew P Mitchell, Diana I Brixner
BACKGROUND: While statins are safe and efficacious, some patients may experience statin intolerance or treatment-limiting adverse events. Identifying patients with statin intolerance may allow optimal management of cardiovascular event risk through other strategies. Recently, an administrative claims data (ACD) algorithm was developed to identify patients with statin intolerance and validated against electronic medical records. However, how this algorithm compared with perceptions of statin intolerance by integrated delivery networks remains largely unknown...
September 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28838408/crohn-s-disease-genetics-update
#5
REVIEW
Ming-Hsi Wang, Michael F Picco
Since the discovery of the first Crohn's disease (CD) gene NOD2 in 2001, 140 genetic loci have been found in whites using high-throughput genome-wide association studies. Several genes influence the CD subphenotypes and treatment response. With the observations of increasing prevalence in Asia and developing countries and the incomplete explanation of CD variance, other underexplored areas need to be integrated through novel methodologies. Algorithms that incorporate specific genetic risk alleles with other biomarkers will be developed and used to predict CD disease course, complications, and response to specific therapies, allowing precision medicine to become real in CD...
September 2017: Gastroenterology Clinics of North America
https://www.readbyqxmd.com/read/28800528/comparison-of-three-officinal-species-of-callicarpa-based-on-a-biochemome-profiling-strategy-with-uhplc-it-ms-and-chemometrics-analysis
#6
Meng-Lu Chen, Wen-Qi Chang, Jian-Liang Zhou, Ying-Hao Yin, Wen-Rui Xia, Jian-Qun Liu, Li-Fang Liu, Gui-Zhong Xin
Traditional Chinese medicine (TCM) materials with closely related species are frequently fungible in clinical use. Therefore, holistic comparison of the composition in bioactive compounds is essential to evaluate whether they are equivalent in efficacy. Taking three officinal species of Callicarpa as a case, we proposed and validated a standardized strategy for the discrimination of closely related TCM materials, which focused on the extraction, profiling and multivariate statistical analysis of their biochemome...
October 25, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28737713/quality-assessment-of-gentiana-rigescens-from-different-geographical-origins-using-ft-ir-spectroscopy-combined-with-hplc
#7
Zhe Wu, Yanli Zhao, Ji Zhang, Yuanzhong Wang
Gentiana rigescens is a precious herbal medicine in China because of its liver-protective and choleretic effects. A method for the qualitative identification and quantitative evaluation of G. rigescens from Yunnan Province, China, has been developed employing Fourier transform infrared (FT-IR) spectroscopy and high performance liquid chromatography (HPLC) with the aid of chemometrics such as partial least squares discriminant analysis (PLS-DA) and support vector machines (SVM) regression. Our results indicated that PLS-DA model could efficiently discriminate G...
July 24, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28726811/knowledge-base-and-mini-expert-platform-for-the-diagnosis-of-inborn-errors-of-metabolism
#8
Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, Clara D M van Karnebeek, Nenad Blau
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly specialized experts to professionals involved in early diagnoses. We introduce IEMbase, an online expert-curated IEM knowledge base combined with a prototype diagnosis support (mini-expert) system.MethodsDisease-characterizing profiles of specific biochemical markers and clinical symptoms were extracted from an expert-compiled IEM database...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726804/diagnostic-cytogenetic-testing-following-positive-noninvasive-prenatal-screening-results-a-clinical-laboratory-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#9
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South, James H Tepperberg, Jeanne M Meck
Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
August 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28687792/maldi-tof-ms-as-a-novel-tool-for-the-estimation-of-postmortem-interval-in-liver-tissue-samples
#10
Chengzhi Li, Zhengdong Li, Ya Tuo, Dong Ma, Yan Shi, Qinghua Zhang, Xianyi Zhuo, Kaifei Deng, Yijiu Chen, Zhenyuan Wang, Ping Huang
Estimation of the postmortem interval (PMI) is a complicated task in forensic medicine, especially during homicide and unwitnessed death investigations. Many biological, chemical, and physical indicators can be used to determine the postmortem interval, but most are not accurate. Here, we present a novel matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) method that can be used for the estimation of PMI using molecular images and multivariate analyses. In this study, we demonstrate that both rat and human liver tissues of various PMIs (0, 2, 4, and 6days) can be discriminated using MALDI imaging and principal component analysis (PCA)...
July 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28687337/a-translational-synthetic-biology-platform-for-rapid-access-to-gram-scale-quantities-of-novel-drug-like-molecules
#11
James Reed, Michael J Stephenson, Karel Miettinen, Bastiaan Brouwer, Aymeric Leveau, Paul Brett, Rebecca J M Goss, Alain Goossens, Maria A O'Connell, Anne Osbourn
Plants are an excellent source of drug leads. However availability is limited by access to source species, low abundance and recalcitrance to chemical synthesis. Although plant genomics is yielding a wealth of genes for natural product biosynthesis, the translation of this genetic information into small molecules for evaluation as drug leads represents a major bottleneck. For example, the yeast platform for artemisinic acid production is estimated to have taken >150 person years to develop. Here we demonstrate the power of plant transient transfection technology for rapid, scalable biosynthesis and isolation of triterpenes, one of the largest and most structurally diverse families of plant natural products...
July 2017: Metabolic Engineering
https://www.readbyqxmd.com/read/28664564/clustering-high-dimensional-mixed-data-to-uncover-sub-phenotypes-joint-analysis-of-phenotypic-and-genotypic-data
#12
D McParland, C M Phillips, L Brennan, H M Roche, I C Gormley
The LIPGENE-SU.VI.MAX study, like many others, recorded high-dimensional continuous phenotypic data and categorical genotypic data. LIPGENE-SU.VI.MAX focuses on the need to account for both phenotypic and genetic factors when studying the metabolic syndrome (MetS), a complex disorder that can lead to higher risk of type 2 diabetes and cardiovascular disease. Interest lies in clustering the LIPGENE-SU.VI.MAX participants into homogeneous groups or sub-phenotypes, by jointly considering their phenotypic and genotypic data, and in determining which variables are discriminatory...
June 30, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28605458/prioritizing-tests-of-epistasis-through-hierarchical-representation-of-genomic-redundancies
#13
Tyler Cowman, Mehmet Koyutürk
Epistasis is defined as a statistical interaction between two or more genomic loci in terms of their association with a phenotype of interest. Epistatic loci that are identified using data from Genome-Wide Association Studies (GWAS) provide insights into the interplay among multiple genetic factors, with applications including assessment of susceptibility to complex diseases, decision making in precision medicine, and gaining insights into disease mechanisms. Since the number of genomic loci assayed by GWAS is extremely large (usually in the order of millions), identification of epistatic loci is a statistically difficult and computationally intensive problem...
August 21, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28549478/gladiator-a-global-approach-for-elucidating-disease-modules
#14
Yael Silberberg, Martin Kupiec, Roded Sharan
BACKGROUND: Understanding the genetic basis of disease is an important challenge in biology and medicine. The observation that disease-related proteins often interact with one another has motivated numerous network-based approaches for deciphering disease mechanisms. In particular, protein-protein interaction networks were successfully used to illuminate disease modules, i.e., interacting proteins working in concert to drive a disease. The identification of these modules can further our understanding of disease mechanisms...
May 26, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28495491/a-computational-algorithm-for-personalized-medicine-in-schizophrenia
#15
Beom S Lee, Roger S McIntyre, James E Gentle, Nan Sook Park, David A Chiriboga, Yena Lee, Sabrina Singh, Marie A McPherson
Despite advances in sequencing candidate genes and whole genomes, no method has accurately predicted who will or will not benefit from a specific antipsychotic medication among patients with schizophrenia. We propose a computational algorithm that utilizes a person-centered approach that directly identifies individual patients who will respond to a specific antipsychotic medication. The algorithm was applied to the data obtained from the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) study...
May 8, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28471435/genomic-sequencing-in-cystic-fibrosis-newborn-screening-what-works-best-two-tier-predefined-cftr-mutation-panels-or-second-tier-cftr-panel-followed-by-third-tier-sequencing
#16
Robert J Currier, Stan Sciortino, Ruiling Liu, Tracey Bishop, Rasoul Alikhani Koupaei, Lisa Feuchtbaum
PurposeThe purpose of this study was to model the performance of several known two-tier, predefined mutation panels and three-tier algorithms for cystic fibrosis (CF) screening utilizing the ethnically diverse California population.MethodsThe cystic fibrosis transmembrane conductance regulator (CFTR) mutations identified among the 317 CF cases in California screened between 12 August 2008 and 18 December 2012 were used to compare the expected CF detection rates for several two- and three-tier screening approaches, including the current California approach, which consists of a population-specific 40-mutation panel followed by third-tier sequencing when indicated...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28451583/pregnancy-an-underutilized-window-of-opportunity-to-improve-long-term-maternal-and-infant-health-an-appeal-for-continuous-family-care-and-interdisciplinary-communication
#17
REVIEW
Birgit Arabin, Ahmet A Baschat
Physiologic adaptations during pregnancy unmask a woman's predisposition to diseases. Complications are increasingly predicted by first-trimester algorithms, amplify a pre-existing maternal phenotype and accelerate risks for chronic diseases in the offspring up to adulthood (Barker hypothesis). Recent evidence suggests that vice versa, pregnancy diseases also indicate maternal and even grandparent's risks for chronic diseases (reverse Barker hypothesis). Pub-Med and Embase were reviewed for Mesh terms "fetal programming" and "pregnancy complications combined with maternal disease" until January 2017...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28444439/back-to-the-future-part-2-post-mortem-assessment-and-evolutionary-role-of-the-bio-medicolegal-sciences
#18
REVIEW
Santo Davide Ferrara, Giovanni Cecchetto, Rossana Cecchi, Donata Favretto, Silke Grabherr, Takaki Ishikawa, Toshikazu Kondo, Massimo Montisci, Heidi Pfeiffer, Maurizio Rippa Bonati, Dina Shokry, Marielle Vennemann, Thomas Bajanowski
Part 2 of the review "Back to the Future" is dedicated to the evolutionary role of the bio-medicolegal sciences, reporting the historical profiles, the state of the art, and prospects for future development of the main related techniques and methods of the ancillary disciplines that have risen to the role of "autonomous" sciences, namely, Genetics and Genomics, Toxicology, Radiology, and Imaging, involved in historic synergy in the "post-mortem assessment," together with the mother discipline Legal Medicine, by way of its primary fundament, universally denominated as Forensic Pathology...
April 25, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28439010/cyclops-reveals-human-transcriptional-rhythms-in-health-and-disease
#19
Ron C Anafi, Lauren J Francey, John B Hogenesch, Junhyong Kim
Circadian rhythms modulate many aspects of physiology. Knowledge of the molecular basis of these rhythms has exploded in the last 20 years. However, most of these data are from model organisms, and translation to clinical practice has been limited. Here, we present an approach to identify molecular rhythms in humans from thousands of unordered expression measurements. Our algorithm, cyclic ordering by periodic structure (CYCLOPS), uses evolutionary conservation and machine learning to identify elliptical structure in high-dimensional data...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28431171/heritability-of-heart-rate-response-to-arousals-in-twins
#20
Xiaoling Gao, Ali Azarbarzin, Brendan T Keenan, Michele Ostrowski, Frances M Pack, Bethany Staley, Greg Maislin, Allan I Pack, Magdy Younes, Samuel T Kuna
Objectives: To determine if the large and highly reproducible interindividual differences in arousal intensity and heart rate response to arousal (ΔHR) during non-REM sleep are heritable. Methods: Polysomnograms of 55 monozygotic (14 male and 41 female pairs) and 36 dizygotic (15 male and 21 female pairs) same-sex twin pairs were analyzed. Arousals were scored using the 2012 American Academy of Sleep Medicine criteria. Arousal intensity was scaled (between 0 and 9) using an automatic algorithm based on the change in electroencephalogram time and frequency characteristics...
June 1, 2017: Sleep
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