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“Precision medicine”

Chengliang Mao, Feili Chen, Yanwen Li, Xinmiao Jiang, Sichu Liu, Hanguo Guo, Ling Huang, Xiaojuan Wei, Zhanli Liang, Wenyu Li, Kai Tang
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a rare disease affecting the brain, leptomeninges, spinal cord, cerebrospinal fluid, or vitreoretinal compartment, without evidence of systemic disease. Prognosis is still poor after intensive methotrexate-based chemotherapy. METHODS: Clinical data of 91 cases treated in a tertiary referral center during a 13-year period were retrospectively reviewed. RESULTS: The estimated median PFS and OS for all cohort was 39...
October 13, 2018: World Neurosurgery
Audrey E Hendricks, Stephen C Billups, Hamish N C Pike, I Sadaf Farooqi, Eleftheria Zeggini, Stephanie A Santorico, Inês Barroso, Josée Dupuis
A primary goal of the recent investment in sequencing is to detect novel genetic associations in health and disease improving the development of treatments and playing a critical role in precision medicine. While this investment has resulted in an enormous total number of sequenced genomes, individual studies of complex traits and diseases are often smaller and underpowered to detect rare variant genetic associations. Existing genetic resources such as the Exome Aggregation Consortium (>60,000 exomes) and the Genome Aggregation Database (~140,000 sequenced samples) have the potential to be used as controls in these studies...
October 2018: PLoS Genetics
Gerald F Watts, Eric S G Stroes
No abstract text is available yet for this article.
October 15, 2018: Current Opinion in Lipidology
Kaitlin E Sundling, Alarice C Lowe
Circulating tumor cells (CTCs) have long been assumed to be the substrate of cancer metastasis. However, only in recent years have we begun to leverage the potential of CTCs found in minimally invasive peripheral blood specimens to improve care for cancer patients. Currently, CTC enumeration is an accepted prognostic indicator for breast, prostate, and colorectal cancer; however, CTC enumeration remains largely a research tool. More recently, the focus has shifted to CTC characterization and isolation which holds great promise for predictive testing...
October 15, 2018: Advances in Anatomic Pathology
Shaimaa Bakr, Olivier Gevaert, Sebastian Echegaray, Kelsey Ayers, Mu Zhou, Majid Shafiq, Hong Zheng, Jalen Anthony Benson, Weiruo Zhang, Ann N C Leung, Michael Kadoch, Chuong D Hoang, Joseph Shrager, Andrew Quon, Daniel L Rubin, Sylvia K Plevritis, Sandy Napel
Medical image biomarkers of cancer promise improvements in patient care through advances in precision medicine. Compared to genomic biomarkers, image biomarkers provide the advantages of being non-invasive, and characterizing a heterogeneous tumor in its entirety, as opposed to limited tissue available via biopsy. We developed a unique radiogenomic dataset from a Non-Small Cell Lung Cancer (NSCLC) cohort of 211 subjects. The dataset comprises Computed Tomography (CT), Positron Emission Tomography (PET)/CT images, semantic annotations of the tumors as observed on the medical images using a controlled vocabulary, and segmentation maps of tumors in the CT scans...
October 16, 2018: Scientific Data
Irwin M Feuerstein, Marjorie R Jenkins, Susan G Kornstein, Michael S Lauer, Pamela E Scott, Tonse N K Raju, Tamara Johnson, Stephanie Devaney, Milena Lolic, Marsha Henderson, Janine Austin Clayton
Historically, women have been underrepresented in clinical research, requiring physicians to extrapolate medical recommendations for women from clinical research done in cohorts consisting predominantly of male participants. While government-funded clinical research has achieved gender parity in phase-3 clinical trials across many biomedical disciplines, improvements are still needed in several facets of women's health research, such as the inclusion of women in early-phase clinical trials, the inclusion of pregnant women and women with physical and intellectual disabilities, the consideration of sex as a biological variable in preclinical research, and the analysis and reporting of sex and gender differences across the full biomedical research continuum...
October 2018: Journal of Women's Health
Zhijun Wang, Chen Xie, Steven Yeung, Jeffrey Wang, Moses S Chow
Streptomycin is the first discovered aminoglycoside antibiotic. Streptomycin has been widely applied in veterinary medicine for prevention and treatment of bacterial infection. However, the current detection methods are not satisfactory in terms of sensitivity and sample process which made them not suitable for a pharmacokinetic study. A high-performance liquid chromatography-mass spectrometric (HPLC-MS/MS) method employing positive electrospray ionization was developed and validated for the determination of streptomycin concentration in mice plasma...
October 15, 2018: Biomedical Chromatography: BMC
Yuan Liu, Shuangyang Ding, Jianzhong Shen, Kui Zhu
Covering: 2000 to 2018, particularly from 2010 to early 2018The increase in the incidence of antibiotic resistant infections is threatening to overwhelm healthcare practices worldwide. Most antibiotics in clinical use are becoming ineffective, so therefore it is imperative to develop new antibiotics and novel therapeutic strategies. Traditionally, the chemical and mechanistic diversity of nonribosomal antibacterial peptides (NRAPs) as lead compounds have meant that their structures are ideal for antibiotic discovery...
October 16, 2018: Natural Product Reports
Michele Carbone, Ivano Amelio, El Bachir Affar, James Brugarolas, Lisa A Cannon-Albright, Lewis C Cantley, Webster K Cavenee, Zhijian Chen, Carlo M Croce, Alan D' Andrea, David Gandara, Carlotta Giorgi, Wei Jia, Qing Lan, Tak Wah Mak, James L Manley, Katsuhiko Mikoshiba, Jose N Onuchic, Harvey I Pass, Paolo Pinton, Carol Prives, Nathaniel Rothman, Said M Sebti, James Turkson, Xifeng Wu, Haining Yang, Herbert Yu, Gerry Melino
The relative contribution of intrinsic genetic factors and extrinsic environmental ones to cancer aetiology and natural history is a lengthy and debated issue. Gene-environment interactions (G x E) arise when the combined presence of both a germline genetic variant and a known environmental factor modulates the risk of disease more than either one alone. A panel of experts discussed our current understanding of cancer aetiology, known examples of G × E interactions in cancer, and the expanded concept of G × E interactions to include somatic cancer mutations and iatrogenic environmental factors such as anti-cancer treatment...
October 15, 2018: Cell Death and Differentiation
Alexandra L Young, Razvan V Marinescu, Neil P Oxtoby, Martina Bocchetta, Keir Yong, Nicholas C Firth, David M Cash, David L Thomas, Katrina M Dick, Jorge Cardoso, John van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Jason D Warren, Sebastian Crutch, Nick C Fox, Sebastien Ourselin, Jonathan M Schott, Jonathan D Rohrer, Daniel C Alexander
The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique-Subtype and Stage Inference (SuStaIn)-able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-sectional patient studies. Results from imaging studies in two neurodegenerative diseases reveal subgroups and their distinct trajectories of regional neurodegeneration...
October 15, 2018: Nature Communications
Alan D Kaye, Thomas Mahakian, Aaron J Kaye, Andrew A Pham, Brendon M Hart, Sonja Gennuso, Elyse M Cornett, Rodney A Gabriel, Richard D Urman
The study of how individual genetic differences, known as polymorphisms, change the pharmacokinetics and pharmacodynamics of drugs is called pharmacogenomics. As the field of pharmacogenetics grows and continues to identify genetic polymorphisms, it is promising that the unmet need in this patient population may soon be addressed with personalized drug therapy based on the patient's genetic composition. Although encouraging, pharmacogenomic testing is underutilized in the United States and is often not covered by insurance companies...
June 2018: Best Practice & Research. Clinical Anaesthesiology
Hui Liu, Yan Zhao, Lin Zhang, Xing Chen
Patients of the same cancer may differ in their responses to a specific medical therapy. Identification of predictive molecular features for drug sensitivity holds the key in the era of precision medicine. Human cell lines have harbored most of the same genetic changes found in patients' tumors and thus are widely used in the research of drug response. In this work, we formulated drug-response prediction as a recommender system problem and then adopted a neighbor-based collaborative filtering with global effect removal (NCFGER) method to estimate anti-cancer drug responses of cell lines by integrating cell-line similarity networks and drug similarity networks based on the fact that similar cell lines and similar drugs exhibit similar responses...
September 22, 2018: Molecular Therapy. Nucleic Acids
Alina I Esterhuizen, Heather C Mefford, Rajkumar S Ramesar, Shuyu Wang, Gemma L Carvill, Jo M Wilmshurst
PURPOSE: Dravet syndrome (DS) is a well-described, severe genetic epileptic encephalopathy with an increased risk of SUDEP. The incidence and genetic architecture of DS in African patients is virtually unknown, largely due to lack of awareness and unavailability of genetic testing. The clinical benefits of the available precision medicine approaches to treatment emphasise the importance of an early, correct diagnosis. We investigated the genetic causes and clinical features of DS in South African children to develop protocols for early, cost-effective diagnosis in the local setting...
September 14, 2018: Seizure: the Journal of the British Epilepsy Association
Hairong Huang, Nan Ding, Tingting Yang, Cuidan Li, Xinmiao Jia, Guirong Wang, Jun Zhong, Ju Zhang, Guanglu Jiang, Shuqi Wang, Zhaojing Zong, Wei Jing, Yongliang Zhao, Shaofa Xu, Fei Chen
Background: The increase in MDR-TB severely hampers TB prevention and control in China, a country with the second highest MDR-TB burden globally. The first nationwide drug-resistant TB surveillance program provides an opportunity to comprehensively investigate the epidemiological/drug-resistance characteristics, potential drug-resistance mutations, and effective population changes of Chinese MDR-TB. Methods: We sequenced 357 MDR strains from 4,600 representative TB-positive sputum samples collected from the survey (70 counties in 31 provinces)...
October 15, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Giacomo Grassi, Stefano Pallanti
Only 40-60% of obsessive-compulsive patients respond to first line treatments, such as selective serotonin reuptake inhibitors (SSRIs) and cognitive-behavioral therapy. Several second-line treatments have been investigated in the last two decades, and most of them seem to work, at least in a subset of patients. However, since there is still a lack of treatment predictors, the treatment of obsessive-compulsive disorder (OCD) is still empirical and non-evidence based. Areas covered: In this paper, we review current and up-and-coming pharmacotherapy for OCD in adults, focusing on two emerging fields of research, inflammation and glutamate systems, since they have attracted the greatest attention in recent years in OCD pharmacological research...
October 15, 2018: Expert Opinion on Pharmacotherapy
Sophie Neugebauer, Christina Wichmann, Sibylle Bremer-Streck, Stefan Hagel, Michael Kiehntopf
BACKGROUND: Adequate antibiotic treatment is a prerequisite for the successful treatment of systemic infections. Based on accumulating scientific evidence, a fixed dosage regimen can lead to insufficient and ineffective antibiotic therapy. Thus, the aim of this study was to develop and validate a simplified, but sensitive method for the simultaneous quantification of antimicrobials by using liquid chromatography with tandem mass spectrometry (LC-MS/MS) for the development of personalized therapy regimens using therapeutic drug monitoring (TDM)...
October 12, 2018: Therapeutic Drug Monitoring
Florent Petitprez, Cheng-Ming Sun, Laetitia Lacroix, Catherine Sautès-Fridman, Aurélien de Reyniès, Wolf H Fridman
Tumors are formed by aggregates of cells of various origins including malignant, stromal and immune cells. The number of therapies targeting the microenvironment is increasing as the tumor microenvironment is more and more recognized as playing an essential role in tumor control. In the era of precision medicine, it is essential to precisely estimate the composition, organization and functionality of the individual patient tumor microenvironment and to find ways to therapeutically modulate it. To quantify the cell populations present in the tumor microenvironment, many tools are now available and the most recent approaches will be reviewed herein...
2018: Frontiers in Oncology
Giovanna Morello, Antonio Gianmaria Spampinato, Francesca Luisa Conforti, Sebastiano Cavallaro
Recent landmark publications from our research group outline a transformative approach to defining, studying and treating amyotrophic lateral sclerosis (ALS). Rather than approaching ALS as a single entity, we advocate targeting therapies to distinct "clusters" of patients based on their specific genomic and molecular features. Our findings point to the existence of a molecular taxonomy for ALS, bringing us a step closer to the establishment of a precision medicine approach in neurology practice.
2018: Frontiers in Neuroscience
Juan Ignacio Pascual Piédrola, Mateo Hevia Suárez, Francisco Javier Ancizu Markert, Angel García Cortés, Pablo Doménech López, Santiago Chiva San Román, José María Velis Campillo, Fernando Díez-Caballero Alonso, José Enrique Robles García, David Rosell Costa, Felipe Villacampa Aubá, Fernando Ramón de Fata Chillón, Bernardino Miñana López
Prostate cancer is a health problem in many Countries worldwide. Understanding the essential function of androgens in the prostate physiology led to the development of hormonal blockade as a therapeutic option in advanced disease, with limited response with time and development of resistance. In this stage, where castration resistant prostate cancer (CRPC) is defined, it is associated with poor prognosis because survival varies between 18 and 24 months. Even with castration levels, tumors are dependent on the functional androgen receptor (AR)...
September 2018: Archivos Españoles de Urología
Wei-Ting Huang, Yi-Ping Ko, Ting-Yu Kuo, Mikael Larsson, Min-Chih Chang, Ren-Der Jean, Dean-Mo Liu
Magnetic resonance imaging (MRI) has been one of the most frequently-used diagnostic tools with high dimensional precision and positioning accuracy in clinical practices. To achieve contrast enhancement, utilization of high-efficient MR imaging contrast agents becomes a prime consideration and is indispensably reinforced the diagnosis precision, especially for the emerging precision medicine. Gadolinium (Gd)-based complexes has been widely used in current clinical MRI operations, however, numerous side effects were reported and highlighted in clinic...
January 1, 2019: Carbohydrate Polymers
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