In 2014, we established a pharmacogenetics unit with the intention of facilitating the integration of pharmacogenetic testing into clinical practice. This unit was centered around two main ideas: i) individualization of clinical recommendations, and ii) preemptive genotyping in risk populations. Our unit is based on the design and validation of a single nucleotide polymorphism (SNP) microarray, which has allowed testing of 180 SNPs associated with drug response (PharmArray), and clinical consultation regarding the results. Herein, we report our experience in integrating pharmacogenetic testing into our hospital and we present the results of the 2,539 pharmacogenetic consultation requests received over the past 3 years in our unit. The results demonstrate the feasibility of implementing pharmacogenetic testing in clinical practice within a national health system.
γ-Aminobutiryc acid (GABA) is found extensively in different brain nuclei, including parts involved in Parkinson’s disease (PD), such as the basal ganglia and hippocampus. In PD and in different models of the disorder, an increase in GABA neurotransmission is observed and may promote bradykinesia or L-Dopa-induced side-effects. In addition, proteins involved in GABAA receptor (GABAAR) trafficking, such as GABARAP, Trak1 or PAELR, may participate in the aetiology of the disease. TGF-β/Smad3 signalling has been associated with several pathological features of PD, such as dopaminergic neurodegeneration; reduction of dopaminergic axons and dendrites; and α-synuclein aggregation. Moreover, TGF-β/Smad3 intracellular signalling was recently shown to modulate GABA neurotransmission in the context of parkinsonism and cognitive alterations. This review provides a summary of GABA neurotransmission and TGF-β signalling; their implications in PD; and the regulation of GABA neurotransmission by TGF-β/Smad3. There appear to be new possibilities to develop therapeutic approaches for the treatment of PD using GABA modulators.
Toxicovigilance is the active process of identifying and evaluating the toxic risks existing in a community, and evaluating the measures taken to reduce or eliminate them.ObjectiveThrough a validated toxicovigilance program (SAT-HULP) we examined the characteristics of acute poisoning cases (APC) attended in the Emergency Department (ED) of La Paz Hospital (Madrid, Spain) and assessed their economic impact on the health system.Material and MethodsThe active poisoning surveillance system performs a daily search for cases in the hospital´s computerized case records. Found cases are entered into a database for recording of type of poisoning episode, reasons for exposure, causative agent, signs and symptoms and treatment. We carried out a cross-sectional epidemiological study with analytical projection, based on an impact study on cost per survivor. The data for the costs attributable to cases of APC observed at HULP (outpatients and inpatients) was obtained from the based on the information provided by the diagnosis-related groups (DRG) through the corresponding hospital discharge reports (available through SAT-HULP).ResultsDuring the first 30 month of SAT-HULP operation we found a total of 3,195 APC, a cumulative incidence rate of 1.75% of patients attended in the ED. The mean (SD) patient age was 40.9 (17.8) years and 51.2% were men. Drug abuse accounted for 47.5% of the cases. Suicide attempt was the second most frequent category (38.1%) and other causes accounted for 14.5% of APC. The total cost of hospital care for our hospital rose to €1,825,263.24 (approximately €730,105.30/year) resulting in a permanent occupation of 4 beds/year.ConclusionsSAT-HULP constitutes a validated toxicovigilance tool, which continuously integrates available data in real-time and helps health services manage APC data flexibly, including the consumption of resources from the health system.
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