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https://www.readbyqxmd.com/read/28540598/parp-inhibitors-in-prostate-cancer
#1
REVIEW
Praveen Ramakrishnan Geethakumari, Matthew J Schiewer, Karen E Knudsen, Wm Kevin Kelly
The genomic landscape of metastatic prostate cancer (mPCa) reveals that up to 90% of patients harbor actionable mutations and >20% have somatic DNA repair gene defects (DRD). This provides the therapeutic rationale of PARP inhibition (PARPi) to achieve "synthetic lethality" in treating this fatal disease. Clinical trials with PARP inhibitors have shown significant response rates up to 88% for PCa patients having DRD like BRCA1/2 or ATM mutations. The FDA has awarded "breakthrough designation" to develop the PARPi olaparib in treating this subset of metastatic PCa patients...
June 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28539120/comprehensive-whole-genome-sequence-analyses-yields-novel-genetic-and-structural-insights-for-intellectual-disability
#2
Farah R Zahir, Jill C Mwenifumbo, Hye-Jung E Chun, Emilia L Lim, Clara D M Van Karnebeek, Madeline Couse, Karen L Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F Boerkoel, Sylvie L Langlois, Barbara M McGillivray, Steven J M Jones, Jan M Friedman, Marco A Marra
BACKGROUND: Intellectual Disability (ID) is among the most common global disorders, yet etiology is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing (WGS) is able to interrogate the entire genome, providing potential to diagnose idiopathic patients. METHODS: We conducted WGS on eight children with idiopathic ID and brain structural defects, and their normal parents; carrying out an extensive data analyses, using standard and discovery approaches...
May 24, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28537755/a-pilot-study-of-noninvasive-prenatal-diagnosis-of-alpha-and-beta-thalassemia-with-target-capture-sequencing-of-cell-free-fetal-dna-in-maternal-blood
#3
Wenjuan Wang, Yuan Yuan, Haiqing Zheng, Yaoshen Wang, Dan Zeng, Yihua Yang, Xin Yi, Yang Xia, Chunjiang Zhu
AIMS: Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried about the invasive operation. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks...
May 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28537475/express-boosting-to-improve-the-performance-of-genetic-algorithms-for-variable-selection-in-pls-spectral-calibrations
#4
Barry Lavine, Collin G White
No abstract text is available yet for this article.
January 1, 2017: Applied Spectroscopy
https://www.readbyqxmd.com/read/28536460/towards-ultimate-low-frequency-air-core-magnetometer-sensitivity
#5
Ruben Pellicer-Guridi, Michael W Vogel, David C Reutens, Viktor Vegh
Air-core magnetometers are amongst the most commonly used magnetic field detectors in biomedical instruments. They offer excellent sensitivity, low fabrication complexity and a robust, cost-effective solution. However, air-core magnetometers must be tailored to the specific application to achieve high sensitivity, which can be decisive in the accuracy of the diagnoses and the time required for the examination. Existing methods proposed for the design of air-core magnetometers are based on simplified models and simulations using a reduced number of variables, potentially leading to sensitivity that is suboptimal...
May 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28535583/molecular-testing-of-brain-tumor
#6
REVIEW
Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi
The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53 , and ATRX , oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 , and the promoter region of telomerase reverse transcriptase ( TERTp )...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28535524/genetics-and-autosomal-dominant-polycystic-kidney-disease-progression
#7
Valentina Corradi, Anna Giuliani, Fiorella Gastaldon, Massimo de Cal, Barbara Mancini, Anna Montaldi, Alberta Alghisi, Irene Capelli, Gaetano La Manna, Claudio Ronco
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, accounting for 10% of European patients on renal replacement therapy. In the previous years, many approaches to slow the progression of ADPKD were studied and many clinical trials published. In addition to having diagnostic role, the description of the genotype is even important to predict the progression of the disease and contributes, combined with several other factors, to a more precise patients classification...
2017: Contributions to Nephrology
https://www.readbyqxmd.com/read/28534786/evolutionary-computing-enriched-computer-aided-diagnosis-system-for-diabetic-retinopathy-a-survey
#8
Romany Mansour
The alterations caused due to diabetes mellitus results into significant micro-vasculature that eventually causes diabetic retinopathy (DR) that keeps on increasing as per time and eventually causes complete vision loss. Identifying subtle variations in morphological changes in retinal blood vessels, optic disk, exudates, micro-aneurysms, hemorrhage etc is complicate and requires robust computer aided diagnosis (CAD) system so as to enable earlier and efficient DR diagnosis practices. In majority of the existing CAD systems, the need of functional enhancement has been realized time by time to ensure accurate and time efficient DR...
May 17, 2017: IEEE Reviews in Biomedical Engineering
https://www.readbyqxmd.com/read/28534783/nahal-flex-a-numerical-and-alphabetical-hinge-detection-algorithm-for-flexible-protein-structure-alignment
#9
Samira Fotoohifiroozabadi, Mohd Saberi Mohamad, Safaai Deris
Flexible proteins are proteins that have conformational changes in their structures. Protein flexibility analysis is critical for classifying and understanding protein functionality. For that analysis, the hinge areas where proteins show flexibility must be detected. To detect the location of the hinges, previous methods have utilized the three-dimensional (3D) structure of proteins, which is highly computational. To reduce the computational complexity, this study proposes a novel text-based method using structural alphabets (SAs) for detecting the hinge position, called NAHAL-Flex...
May 17, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/28532643/reprint-of-a-new-approach-to-analyze-data-from-eeg-based-concealed-face-recognition-system
#10
A H Mehrnam, A M Nasrabadi, Mahrad Ghodousi, A Mohammadian, Sh Torabi
The purpose of this study is to extend a feature set with non-linear features to improve classification rate of guilty and innocent subjects. Non-linear features can provide extra information about phase space. The Event-Related Potential (ERP) signals were recorded from 49 subjects who participated in concealed face recognition test. For feature extraction, at first, several morphological characteristics, frequency bands, and wavelet coefficients (we call them basic-features) are extracted from each single-trial ERP...
May 19, 2017: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/28532592/extending-the-scope-of-eco-labelling-in-the-food-industry-to-drive-change-beyond-sustainable-agriculture-practices
#11
Marco A Miranda-Ackerman, Catherine Azzaro-Pantel
New consumer awareness is shifting industry towards more sustainable practices, creating a virtuous cycle between producers and consumers enabled by eco-labelling. Eco-labelling informs consumers of specific characteristics of products and has been used to market greener products. Eco-labelling in the food industry has yet been mostly focused on promoting organic farming, limiting the scope to the agricultural stage of the supply chain, while carbon labelling informs on the carbon footprint throughout the life cycle of the product...
May 19, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28529938/senescence-inflammatory-regulation-of-reparative-cellular-reprogramming-in-aging-and-cancer
#12
Javier A Menendez, Tomás Alarcón
The inability of adult tissues to transitorily generate cells with functional stem cell-like properties is a major obstacle to tissue self-repair. Nuclear reprogramming-like phenomena that induce a transient acquisition of epigenetic plasticity and phenotype malleability may constitute a reparative route through which human tissues respond to injury, stress, and disease. However, tissue rejuvenation should involve not only the transient epigenetic reprogramming of differentiated cells, but also the committed re-acquisition of the original or alternative committed cell fate...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28529873/white-matter-hyperintensities-are-seen-only-in-grn-mutation-carriers-in-the-genfi-cohort
#13
Carole H Sudre, Martina Bocchetta, David Cash, David L Thomas, Ione Woollacott, Katrina M Dick, John van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Sébastien Ourselin, M Jorge Cardoso, Jonathan D Rohrer
Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. Previous small studies have reported the presence of cerebral white matter hyperintensities (WMH) in genetic FTD but this has not been systematically studied across the different mutations. In this study WMH were assessed in 180 participants from the Genetic FTD Initiative (GENFI) with 3D T1- and T2-weighed magnetic resonance images: 43 symptomatic (7 GRN, 13 MAPT and 23 C9orf72), 61 presymptomatic mutation carriers (25 GRN, 8 MAPT and 28 C9orf72) and 76 mutation negative non-carrier family members...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28526968/computer-aided-diagnosis-of-lung-nodules-in-computed-tomography-by-using-phylogenetic-diversity-genetic-algorithm-and-svm
#14
Antonio Oseas de Carvalho Filho, Aristófanes Corrêa Silva, Anselmo Cardoso de Paiva, Rodolfo Acatauassú Nunes, Marcelo Gattass
Lung cancer is pointed as the major cause of death among patients with cancer throughout the world. This work is intended to develop a methodology for diagnosis of lung nodules using images from the Image Database Consortium and Image Database Resource Initiative (LIDC-IDRI). The proposed methodology uses image processing and pattern recognition techniques. In order to differentiate between the patterns of malignant and benign nodules, we used phylogenetic diversity by means of particular indexes, that are: intensive quadratic entropy, extensive quadratic entropy, average taxonomic distinctness, total taxonomic distinctness, and pure diversity indexes...
May 19, 2017: Journal of Digital Imaging: the Official Journal of the Society for Computer Applications in Radiology
https://www.readbyqxmd.com/read/28526280/an-overview-of-medical-risk-factors-for-childhood-psychosis-implications-for-research-and-treatment
#15
REVIEW
Marianna Giannitelli, Angèle Consoli, Marie Raffin, Renaud Jardri, Douglas F Levinson, David Cohen, Claudine Laurent-Levinson
OBJECTIVE: Psychotic disorders in childhood and early adolescence often progress to chronic schizophrenia, but in many cases there are diagnosable medical and genetic causes or risk factors. We reviewed our clinical experience and the relevant literature to identify these factors and to define their clinical features, appropriate work-up and treatment. METHOD: We reviewed the results of comprehensive medical evaluations of 160 psychotic children and adolescents in our center...
May 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28524225/-how-must-we-manage-epileptic-encephalopathies-in-infants-conclusions
#16
V Soto-Insuga
Epileptic encephalopathies are defined as epileptic syndromes in which the epileptic activity per se (in the form of frequent seizures or the presence of interictal epileptiform activity) contributes to a cognitive and behavioural disorder that is more important than could be expected from the causation of the disorder. Their aetiological diagnosis is fundamental to allow an early treatment to be established. We propose a diagnostic algorithm for patients with epileptic encephalopathy with onset during the first year of life, which includes management coordinated with electroencephalographic studies, neuroimaging, and screening for metabolic and genetic disorders...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28523978/closed-loop-neuromodulation-systems-next-generation-treatments-for-psychiatric-illness
#17
Meng-Chen Lo, Alik S Widge
Despite deep brain stimulation's positive early results in psychiatric disorders, well-designed clinical trials have yielded inconsistent clinical outcomes. One path to more reliable benefit is closed-loop therapy: stimulation that is automatically adjusted by a device or algorithm in response to changes in the patient's electrical brain activity. These interventions may provide more precise and patient-specific treatments. This article first introduces the available closed-loop neuromodulation platforms, which have shown clinical efficacy in epilepsy and strong early results in movement disorders...
April 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28521733/nfpscanner-a-webtool-for-knowledge-based-deciphering-of-biomedical-networks
#18
Wenjian Xu, Yang Cao, Ziwei Xie, Haochen He, Song He, Hao Hong, Xiaochen Bo, Fei Li
BACKGROUND: Many biological pathways have been created to represent different types of knowledge, such as genetic interactions, metabolic reactions, and gene-regulating and physical-binding relationships. Biologists are using a wide range of omics data to elaborately construct various context-specific differential molecular networks. However, they cannot easily gain insight into unfamiliar gene networks with the tools that are currently available for pathways resource and network analysis...
May 18, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28520518/arrested-development-infantile-hemangioma-and-the-stem-cell-teratogenic-hypothesis
#19
Shaghayegh Harbi, Hannah Park, Michael Gregory, Peter Lopez, Luis Chiriboga, Paolo Mignatti
BACKGROUND: Early-life programming is defined by the adaptive changes made by the fetus in response to an adverse in utero environment. Infantile hemangioma (IH), a vascular anomaly, is the most common tumor of infancy. Here we take IH as the tumor model to propose the stem cell teratogenic hypothesis of tumorigenesis and the potential involvement of the immune system. OBJECTIVES: Teratogenic agents include chemicals, heavy metals, pathogens, and ionizing radiation...
May 18, 2017: Lymphatic Research and Biology
https://www.readbyqxmd.com/read/28518218/comparison-and-optimization-of-in-silico-algorithms-for-predicting-the-pathogenicity-of-sodium-channel-variants-in-epilepsy
#20
Katherine D Holland, Thomas M Bouley, Paul S Horn
OBJECTIVE: Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases...
May 18, 2017: Epilepsia
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