Search results for "GENETICS"
showing 10 items of 12494 documents
Consensus Guidelines for Therapeutic Drug Monitoring in Neuropsychopharmacology: Update 2017
2017
AbstractTherapeutic drug monitoring (TDM) is the quantification and interpretation of drug concentrations in blood to optimize pharmacotherapy. It considers the interindividual variability of pharmacokinetics and thus enables personalized pharmacotherapy. In psychiatry and neurology, patient populations that may particularly benefit from TDM are children and adolescents, pregnant women, elderly patients, individuals with intellectual disabilities, patients with substance abuse disorders, forensic psychiatric patients or patients with known or suspected pharmacokinetic abnormalities. Non-response at therapeutic doses, uncertain drug adherence, suboptimal tolerability, or pharmacokinetic drug…
The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode ps…
2021
The work was supported by Guarantors of Brain post-doctoral clinical fellowship to DQ; Clinician Scientist Medical Research Council fellowship (project reference MR/M008436/1) to MDF; Heisenberg professorship from the German Research Founda- tion (grant no. 389624707) to UR; the National Institute for Health Research (NIHR) Maudsley Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. The EU-GEI Project is funded by the European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-…
Pure oxygen ventilation during general anaesthesia does not result in increased postoperative respiratory morbidity but decreases surgical site infec…
2014
Background. Pure oxygen ventilation during anaesthesia is debatable, as it may lead to development of atelectasis. Rationale of the study was to demonstrate the harmlessness of ventilation with pure oxygen. Methods. This is a single-centre, one-department observational trial. Prospectively collected routine-data of 76,784 patients undergoing general, gynaecological, orthopaedic, and vascular surgery during 1995–2009 were retrospectively analysed. Postoperative hypoxia, unplanned ICU-admission, surgical site infection (SSI), postoperative nausea and vomiting (PONV), and hospital mortality were continuously recorded. During 1996 the anaesthetic ventilation for all patients was changed from 30…
Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?
2021
Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients’ clinical management in order to tailor their therapies as much as possible, with the aim of maximizing efficacy and minimizing toxicity. This is of great importance, especially in pediatric cancer and even more in complex malignancies such as neuroblastoma, where the rates of therapeutic success are still below those of many other types of tumors. The studies are mainly focused on germline genetic variants and in the present review, state of the art is presented: which are the variants that have a level of evidence high enough to be implemented in the c…
New susceptibility locus for coronary artery disease on chromosome 3q22.3
2009
We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in approximately 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement
2020
Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of qua…
SAT0571 OPTICAL SPECTRAL TRANSMISSION TO ASSESS THERAPY RESPONSE IN PATIENTS WITH ARTHRITIS: A COMPARATIVE STUDY WITH CLINICAL, LABORATORY AND ULTRAS…
2020
Background:Valid assessment of disease activity leads to outcome improvement in patients with rheumatoid arthritis (RA) (1). Optical spectral transmission (OST) is a modern diagnostic tool able to assess the blood-specific absorption of light transmitted through a tissue, promising quantification of inflammation in the finger and wrist joints of RA patients (commercial device: HandScan - Hemics, The Netherlands) (2).Objectives:To our knowledge, there are no data regarding the diagnostic value of OST in the evaluation of inflammatory activity changes during arthitis follow up.Thus, aims of this study were to examine the ability of OST to detect response to anti-inflammatory therapy in patien…
Oral Surgical Management of Bone and Soft Tissues in MRONJ Treatment: A Decisional Tree.
2020
Background: The aim of the present work was to analyze a 10-year retrospective series of surgically treated medication-related osteonecrosis of the jaws (MRONJ) cases, reporting the clinical outcome and success rate for each adopted procedure in order to draw a treatment algorithm that is able to standardize clinical decision making and maximize the success of oral surgical treatment of MRONJ. Methods: Different surgical approaches were categorized taking into consideration two variables a) hard tissue management (defined as debridement, saucerization or marginal resective surgery of maxillary necrotic bone) and b) soft tissue management (defined as type of flap design and related modality …
An exploratory study of two Caco-2 cell models for oral absorption: A report on their within-laboratory and between-laboratory variability, and their…
2010
In 2005, the European Centre for the Validation of Alternative Methods (ECVAM) sponsored a study aimed at evaluating the reproducibility (between-laboratory and within-laboratory variability) and the predictive capacity of two in vitro cellular systems — the Caco-2/ATCC parental cell line and the Caco-2/TC7 clone — for estimating the oral fraction absorbed (Fa) in humans. Two laboratories, both of which had experience with Caco-2 cultures, participated in the study. Ten test chemicals with documented in vivo oral absorption data were selected. Atenolol, cimetidine and propranolol were included as reference compounds for low, medium and high intestinal absorption, respectively. Transport ex…
Estudios de epidemiología molecular en población inmigrante en España
2014
Fundamentos: La epidemiología molecular es una nueva disciplina que permite la integración de la información sobre la variabilidad genética de patógenos infecciosos con su difusión en la población y subgrupos de la misma incluyendo, por ejemplo, las mutaciones de resistencia a antibióticos y antivirales. El objetivo es conocer qué posibles diferencias existe en las características genéticas de los agentes infecciosos que afectan a las poblaciones inmigrante y autóctoctona en España. Métodos: Se revisaron artículos originales publicados entre 1998-2013, con las palabras clave "epidemiología molecular", "tipado molecular", "secuenciación", "inmigrante", "España". Resultados: De un total de 26…