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precision medication

Yuichi Mori, Shin-Ei Kudo, Hussein Ebaid Naeem Mohmed, Masashi Misawa, Noriyuki Ogata, Hayato Itoh, Masahiro Oda, Kensaku Mori
With recent breakthroughs in artificial intelligence, computer-aided diagnosis (CAD) for upper gastrointestinal endoscopy is gaining increasing attention. Main research focuses in this field include automated identification of dysplasia in Barrett's esophagus and detection of early gastric cancers. By helping endoscopists avoid missing and mischaracterizing neoplastic change in both the esophagus and stomach, these technologies potentially contribute to solving current limitations of gastroscopy. Currently, optical diagnosis of early-stage dysplasia related to Barrett's esophagus can be precisely achieved only by endoscopists proficient in advanced endoscopic imaging, and the false negative rate for detecting gastric cancer is approximately 10%...
December 14, 2018: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
Tiba Delespierre, Loic Josseran
BACKGROUND: New nursing homes (NH) data warehouses fed from residents' medical records allow monitoring the health of elderly population on a daily basis. Elsewhere, syndromic surveillance has already shown that professional data can be used for public health (PH) surveillance but not during a long-term follow-up of the same cohort. OBJECTIVE: This study aimed to build and assess a national ecological NH PH surveillance system (SS). METHODS: Using a national network of 126 NH, we built a residents' cohort, extracted medical and personal data from their electronic health records, and transmitted them through the internet to a national server almost in real time...
December 13, 2018: JMIR Public Health and Surveillance
Lou Ann Scarton, Liqin Wang, Halil Kilicoglu, Margaret Jahries, Guilherme Del Fiol
OBJECTIVE: There is a significant consumer demand for complementary and alternative medicine (CAM) therapies as possible alternatives to drugs in the treatment and prevention of chronic diseases. Expanding controlled vocabularies to include CAM treatment relations could help meet those needs by facilitating information retrieval from the published literature. The purpose of this study is to design and evaluate two methods to semi-automatically extract CAM treatment-related semantic predications (subject-predicate-object triplets) from the biomedical literature using the Semantic Medline database (SemMedDB)...
January 2019: International Journal of Medical Informatics
André Gillibert, Nicolas Griffon, Matthieu Schuers, Kristell Hardy, Amine Elmerini, Catherine Letord, Pascal Staccini, Stefan J Darmoni, Jacques Benichou
INTRODUCTION: The pharmaceutical record system (PRS) is a French nationwide centralized electronic database shared among all community pharmacists listing all drugs dispensed by community pharmacists in the last four months. The objective of this study, the Medication Assessment Through Real time Information eXchange - Distributed Pharmaceutical Record System (MATRIX - DPRS) study, was to assess the clinical impact of the PRS upon granting access to physicians in three hospital specialties: anesthesiology, emergency medicine and geriatrics...
January 2019: International Journal of Medical Informatics
Pooja Mishra, Jaume Albiol-Chiva, Devasish Bose, Abhilasha Durgbanshi, Juan Peris-Vicente, Samuel Carda-Broch, Josep Esteve-Romero
Isoniazid is a drug that is widely used against tuberculosis. However, it shows high interpatient variability in metabolism kinetics and clinical effect, which complicates the prescription of the medication and jeopardizes the success of the therapy. Therefore, in a specific patient, the pharmacokinetics of the drug must be elucidated to decide the proper dosage and intake frequency to make the drug suitable for therapeutic drug monitoring. This can be performed by the quantification of the drug in urine as this process is non-invasive and allows the effects of long-time exposure to be inferred...
December 11, 2018: Antibiotics
Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, Katie F M Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H Brilstra, Oebele F Brouwer, Petra M C Callenbach, Julia Hentschel, Edouard Hirsch, Peter C Kind, Cyril Mignot, Konrad Platzer, Patrick Rump, Paul A Skehel, David J A Wyllie, Giles E Hardingham, Conny M A van Ravenswaaij-Arts, Gaetan Lesca, Johannes R Lemke
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with prominent speech-related features, and epilepsy. We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN2A-related disorders. Applying the criteria of the American College of Medical Genetics and Genomics to all published variants yielded 156 additional cases with pathogenic or likely pathogenic variants in GRIN2A, resulting in a total of 248 individuals...
December 12, 2018: Brain: a Journal of Neurology
Filippo Corponi, Chiara Fabbri, Giuseppe Boriani, Igor Diemberger, Diego Albani, Gianluigi Forloni, Alessandro Serretti
Several antipsychotics and antidepressants have been associated with electrocardiogram alterations, the most clinically relevant of which is the heart rate-corrected QT interval (QTc) prolongation, a risk factor for sudden cardiac death. Genetic variants influence drug-induced QTc prolongation and can provide valuable information for precision medicine. The effect of genetic variants on QTc prolongation as well as the possible interaction between polymorphisms and risk medications in determining QTc prolongation were investigated...
December 13, 2018: Neuropsychobiology
John W Polley, John A Girotto, Matthew P Fahrenkopf, Megan L Dietze-Fiedler, Joshua P Kelley, Joseph C Taylor, Spiros A Lazarou, Neophytos C Demetriades
INTRODUCTION: Skeletal reconstruction in severe grades of hemifacial microsomia (HFM) continues to be challenging. Traditional techniques of autografts and osseous distraction for reconstruction of the glenoid fossa, condyle, and ramus can fall short of expectations and can create new problems. This intercontinental study analyzes the role of alloplastic skeletal rehabilitation in severe HFM. METHODS: Ten consecutive patients with Pruzansky grade III HFM were reconstructed between October 2014 and July 2017 at 2 craniofacial centers following the same protocol...
December 13, 2018: Cleft Palate-craniofacial Journal
Yoshimasa Takase, Kaori Okuyama, Motohiro Nozawa, Katsuyoshi Mizukami
A 94 year old woman with a late-onset paraphrenia was referred to our clinic from a community care center. The patient showed symptoms of paranoia and auditory hallucination. The patient was in conflict with her neighbors regarding noise-related problems and was experiencing loss of appetite. Because the patient had a strong aversion to outpatient treatment due to difficulty in commuting, home visits were commenced. Improvements were observed after administration of 2.5 mg per day of olanzapine.In home medical care, precise definitive diagnosis and determination of treatment approach is necessary under limited time and resources...
2018: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
Jeremy J Jay, Alexa Sanders, Robert W Reid, Cory R Brouwer
OBJECTIVES: Biomedical research is gaining ground on human disease through many types of "omics", which is leading to increasingly effective treatments and broad applications for precision medicine. The majority of disease treatments still revolve around drugs and biologics. Although food is consumed in much higher quantities, we understand very little about how the human body metabolizes and uses the full range of nutrients, or how these processes affect human health and disease risk...
December 12, 2018: BMC Research Notes
Niorn Ratanapob, John VanLeeuwen, Shawn McKenna, Maureen Wichtel, Juan C Rodriguez-Lecompte, Paula Menzies, Jeffrey Wichtel
Blood samples were collected from late-gestation ewes to determine the agreement of a point-of-care (POC) Precision Xtra meter and a standard laboratory test for β-hydroxybutyrate (BHBA). Fresh whole blood samples were immediately tested with the POC instrument, and serum samples were analyzed with a standard commercial biochemical analyzer. Ewes were classified as having ketonemia if their BHBA concentrations were ≥800 µmol/L. Scatter plots, paired t-tests, Bland-Altman limits of agreement, and Gwet AC1 tests were used to compare results...
December 12, 2018: Journal of Veterinary Diagnostic Investigation
Shingo Kato, Takuo Hayashi, Yoshiyuki Suehara, Haruka Hamanoue, Shoji Yamanaka, Yasushi Ichikawa, Takuma Higurashi, Kenichi Ohashi, Shigeo Yamaguchi, Yumi Nozaki, Yasuhisa Terao, Tsuyoshi Saito
Background: Application of next-generation DNA sequencing (NGS) has recently become increasingly common in the field of clinical oncology in several countries around the world. In Japan also, a system for applying NGS to routine clinical practice is gradually being established. During this process, we introduced in Japan the tumor-profiling MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) assay. Methods: We present here our initial experience with the use of MSK-IMPACT in 68 patients selected from two institutions in Japan between June 2016 and October 2017...
December 12, 2018: Japanese Journal of Clinical Oncology
Chao-Hsuan Liu, Chung-An Chen, Shi-Jia Chen, Tsung-Ting Tsai, Chin-Chou Chu, Chien-Cheng Chang, Chien-Fu Chen
In this study, we present a simple, hand-powered, and electricity-free centrifuge platform based on a commercially available "fidget-spinner." The centrifugal force provided by this inexpensive and easy-to-use toy is sufficient to separate whole blood, producing a plasma yield rate and purity of 30% and 99%, respectively, separated in as little as 4-7 minutes. We verified the separated plasma by performing a paper-based HIV-1 p24 capsid protein enzyme-linked immunosorbent assay, which achieved a recovery rate of up to 98%, indicating the plasma features extremely low matrix interference effects...
December 11, 2018: Analytical Chemistry
Elissa Furutani, Peter E Newburger, Akiko Shimamura
Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia...
December 8, 2018: American Journal of Hematology
Shao-Cheng Liu, Ming-Chang Kao, Yun-Chen Huang, Wan-Fu Su
BACKGROUND: Management of chronic cluster headache (CCH) remains a challenging endeavor, and the optimal surgical approach for medically refractory CCH remains controversial. OBJECTIVE: To conduct a preliminary evaluation of the efficacy and safety of vidian neurectomy (VN) in patients with medically refractory CCH. METHODS: Between March 2013 and December 2015, 9 CCH patients, all of whom had failed to respond to conservative therapy, underwent VN with a precise nerve cut and maximal preservation of the sphenopalatine ganglion...
December 10, 2018: Neurosurgery
Alexandru Daniel Jurcă, Maria Claudia Jurcă, Marius Bembea, Kinga Kozma, Magdalena Budişteanu, Cristina Gug
Congenital hyperammonemia (HA) due to inborn errors of metabolism is a rare condition with a high rate of mortality. The main effects occur at the central nervous system (CNS) level, being neurotoxic by alteration of the neurotransmitter function. HA can be triggered by an inappropriate diet, infection or stress, but can also occur without a precise cause. In cases of metabolic crises, patients require immediately intensive care. In the last seven years (2011-2017), we cared in the Department of Genetics, "Dr...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Ariel Gustavo Glickman, Sergio Valdes, Blanca Gil-Ibañez, Pilar Paredes, Karen Sttephannía Cortés, Aureli Angel Torné Blade
Cervical cancer is the fourth most common cancer in women, and seventh overall. This disease represents a medical, economic and social burden. In early FIGO stage patients (IA, IB1 and IIA1), nodal involvement is the most important prognostic factor. Imaging evaluation of nodal metastasis is of limited value. In order to determine lymph node involvement, allow loco-regional control of the disease, define the need for adjuvant radiotherapy and improve survival, standard surgery for early disease is radical hysterectomy with systematic pelvic lymphadenectomy...
November 2018: Reports of Practical Oncology and Radiotherapy
Sheng-Yan Xi, Gerald Yosel Minuk
Traditional Chinese Medicines (TCMs) have been employed for centuries in the treatment of patients with hepatocellular carcinoma (HCC). Previous reviews of this topic have focused on certain aspects of TCM treatment rather than an overall assessment of their value and mechanisms of action. Both the Chinese and English medical literatures were reviewed to identify where TCM might be of value in the treatment of HCC and the justification for such treatment. TCM treatment corrects the "internal disequilibriums" thought to be responsible for the development, growth, and spread of the tumor...
November 27, 2018: World Journal of Hepatology
Angeliki Karamitri, Ralf Jockers
Despite considerable advances in the past few years, obesity and type 2 diabetes mellitus (T2DM) remain two major challenges for public health systems globally. In the past 9 years, genome-wide association studies (GWAS) have established a major role for genetic variation within the MTNR1B locus in regulating fasting plasma levels of glucose and in affecting the risk of T2DM. This discovery generated a major interest in the melatonergic system, in particular the melatonin MT2 receptor (which is encoded by MTNR1B)...
December 7, 2018: Nature Reviews. Endocrinology
Manuel Puig-Domingo, Monica Marazuela
Acromegaly is a chronic disorder usually diagnosed late in the disease evolution, leading to substantial morbidity and mortality related to this long period of undiagnosed state as well as the difficulty in achieving normalization of GH hypersecretion and controlling tumour mass. First generation somatostatin analogues (SSA) are accepted as the first-line medical therapy or as second-line therapy in patients undergoing unsuccessful surgery. However, because a high percentage of patients experience SSA treatment failure, the inclusion of biomarkers associated with a successful or non-successful response to these drug ( as well as to all classes of medical therapy) is necessary to better guide the choice of treatment, potentially allowing for a quicker achievement of disease control...
December 7, 2018: Minerva Endocrinologica
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