Pharmacogenetic testing-guided treatment for oncology: an overview of reviews.

Pharmacogenetics is the relationship between an individual's genetic variations and their response to pharmacological treatment. We conducted an overview of reviews on the use of post-treatment pharmacogenetic testing for oncology, based on clinically relevant gene-drug pairs. We conducted a search on Medline, Embase and Cochrane Library, from their inception to 18 June 2020.

Dominant/non-dominant support limb kinematics and approach run parameters in futsal kicking of stationary and rolling ball.

Background: Task constraints and players' asymmetry influences on lower extremity (i.e. kicking limb) kinematics during futsal instep kicking.

Relation of Macrophage Migration Inhibitory Factor to Pulmonary Hemodynamics and Vascular Structure and Carbamyl-Phosphate Synthetase I Genetic Variations in Pediatric Patients with Congenital Cardiac Shunts.

Macrophage migration inhibitory factor (MIF) plays an important pathophysiological role in pulmonary hypertension (PHT). Previously, we demonstrated that serum MIF is increased in pediatric PHT associated with congenital heart disease (CHD). In the present study, we determined possible associations between MIF levels, hemodynamic and histological parameters, and mitochondrial carbamyl-phosphate synthetase I (CPSI) T1405N polymorphism in a similar population.

Evaluation of a pharmacogenetic-based warfarin dosing algorithm in patients with low time in therapeutic range - study protocol for a randomized controlled trial.

Background: Time in therapeutic range (TTR) is a measurement of quality of warfarin therapy and lower TTR values (<50%) are associated with greater risk of thromboembolic and bleeding events. Recently, we developed a pharmacogenetic-based warfarin dosing algorithm specifically calibrated for a Brazilian patient sample. The aims of this study are: to evaluate the impact of a genetic-based algorithm, compared to traditional anticoagulation, in the time to achieve the therapeutic target and in TTR percentage; and to assess the cost-effectiveness of genotype-guided warfarin dosing in a specific cohort of patients with low TTR (<50%) from a tertiary cardiovascular hospital.

Ultrasonography as an objective tool for assessment of infantile hemangioma treatment with propranolol.

Background: Infantile hemangiomas (IHs) are the most common benign vascular tumors of childhood. Propranolol is an effective drug in treating IH. A reliable and complementary instrument is necessary to evaluate IH response to propranolol in addition to clinical and photographic assessments.

Age is associated with time in therapeutic range for warfarin therapy in patients with atrial fibrillation.

Background: Warfarin is the most prescribed oral anticoagulant used for preventing stroke in patients with atrial fibrillation. Time in the therapeutic range (TTR) has been accepted as the best method to evaluate the quality of warfarin therapy. The main aim of the present study was to evaluate the impact of variables on the time in the therapeutic range for warfarin therapy in patients with atrial fibrillation from a referral cardiovascular hospital.

Effects of leg muscle fatigue on gait in patients with Parkinson's disease and controls with high and low levels of daily physical activity.

Patients with Parkinson's disease (PD) are more susceptible to muscle fatigue, which can damage their gait. Physical activity can improve muscle condition, which is an important aspect during walking. The aim of this study was to analyze the effects of lower limb muscle fatigue on gait in patients with PD and healthy individuals, grouped according to physical activity level.

Effects of aging on the effectiveness of smoking cessation medication.

Background: Considering the pharmacokinetic and pharmacodynamic aspects of different medications, it is plausible that the age of a smoker could affect the half-life of these drugs. The aim of this study was to compare the effectiveness of smoking cessation drugs (nicotine replacement therapy, bupropion, and varenicline) used either in isolation or in combination in adults under and over 60 years of age.

Methods: Data were collected from 940 Brazilian patients participating in a smoking cessation program.

Paraconsistents artificial neural networks applied to the study of mutational patterns of the F subtype of the viral strains of HIV-1 to antiretroviral therapy.

The high variability of HIV-1 as well as the lack of efficient repair mechanisms during the stages of viral replication, contribute to the rapid emergence of HIV-1 strains resistant to antiretroviral drugs. The selective pressure exerted by the drug leads to fixation of mutations capable of imparting varying degrees of resistance. The presence of these mutations is one of the most important factors in the failure of therapeutic response to medications.

Influence of smoking cessation drugs on blood pressure and heart rate in patients with cardiovascular disease or high risk score: real life setting.

Background: Smoking is the most important reversible cardiovascular risk factor. It is well established that quitting smoking reduces coronary events. However, on several occasions, the cardiovascular safety of smoking cessation drugs has been questioned.

Recovery of gait after quadriceps muscle fatigue.

The aim of this study was to investigate the effect of recovery time after quadriceps muscle fatigue on gait in young adults. Forty young adults (20-40 years old) performed three 8-m gait trials at preferred velocity before and after muscle fatigue, and after 5, 10 and 20min of passive rest. In addition, at each time point, two maximal isometric voluntary contractions were preformed.

Type of LDLR mutation and the pharmacogenetics of familial hypercholesterolemia treatment.

Familial hypercholesterolemia (FH) is an autosomal dominant disease mainly caused by mutations in the low-density lipoprotein receptor (LDLR) gene. FH patients present a wide variability regarding response to drugs and they are usually undertreated. Here, we review studies that evaluated the association between the type of LDLR mutation and the response to lipid-lowering therapy.

Development of a pharmacogenetic-based warfarin dosing algorithm and its performance in Brazilian patients: highlighting the importance of population-specific calibration.

Background: The main aims of the present study were to develop a pharmacogenetic-based warfarin dosing algorithm and to validate it in a highly admixed population.

Materials & Methods: We included two patient cohorts treated with warfarin (first cohort, n = 832; and second cohort, n = 133).

Results: Our algorithm achieved a determination coefficient of 40% including the variables age, gender, weight, height, self-declared race, amiodarone use, enzyme inducers use, VKORC1 genotypes and predicted phenotypes according to CYP2C9 polymorphisms.

CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy.

Background: The large individual variability in response to drugs for smoking cessation suggests that specific treatments can be more effective in particular subgroups of smokers. In the context of personalized medicine, the main aim of the present study was to evaluate whether the CHRNA4 and CHRNB2 polymorphisms are associated with response to smoking cessation therapies in patients from a smoker assistance program.

Methods: This cohort study enrolled 483 smoking patients who received behavioral counseling and drug treatment (varenicline, bupropion, and/or nicotine replacement therapy).

General aspects of muscle glucose uptake.

Glucose uptake in peripheral tissues is dependent on the translocation of GLUT4 glucose transporters to the plasma membrane. Studies have shown the existence of two major signaling pathways that lead to the translocation of GLUT4. The first, and widely investigated, is the insulin activated signaling pathway through insulin receptor substrate-1 and phosphatidylinositol 3-kinase.

Deferasirox in patients with iron overload secondary to hereditary hemochromatosis: results of a 1-yr Phase 2 study.

This open-label, prospective, phase 2 study evaluated the safety and efficacy of deferasirox (10 ± 5 mg/kg/d) in patients with hereditary hemochromatosis (HH) and iron overload refractory to or intolerant of phlebotomy. Ten patients were enrolled and all completed the 12-month treatment period. There were significant decreases from baseline to end of study (i.

The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia.

Background: A previous study reported that the myosin regulatory light chain interacting protein (MYLIP) might serve as a novel therapeutic class for treating dyslipidemia. It contributes to variations in the levels of circulating low-density lipoprotein cholesterol (LDL-C), promoting the degradation of LDL-LDLR, thus limiting absorption. The effect of genetic variation in the MYLIP gene in a disease scenario characterized by mutations in the LDLR gene has not been previously evaluated.

ACTN3 R577X polymorphism and long-term survival in patients with chronic heart failure.

Background: Previous studies have shown the occurrence of actinin-3 deficiency in the presence of the R577X polymorphism in the ACTN3 gene. Our hypothesis is that this deficiency, by interfering with the function of skeletal muscle fiber, can result in a worse prognosis in patients with chronic heart failure.

Methods: A prospective cohort study was conducted from 2002 to 2004.

LPA rs10455872 polymorphism is associated with coronary lesions in Brazilian patients submitted to coronary angiography.

Background: Polymorphisms in the LPA gene were associated with coronary artery disease (CAD). However, there are differences in the allelic frequencies, Lp(a) levels, and significant association with CAD according to ethnic groups. In this scenario, the main aim of this study was to assess the influence of the LPA polymorphisms on coronary lesions in Brazilian patients.

Simultaneous use of amiodarone influences warfarin maintenance dose but is not associated with adverse events.

Background: Drug interaction studies selecting patients in a real-life setting are scarce, and most studies to date are characterized by a small sample size.

Objective: To evaluate the effect of amiodarone on warfarin maintenance dose and adverse events in an anticoagulation cohort from a tertiary cardiovascular service.

Methods: This study recruited 866 patients, and oral anticoagulant therapy was monitored by the prothrombin time expressed as the international normalized ratio (INR).

Disease severity affects obstacle crossing in people with Parkinson's disease.

The current study evaluated the effects of disease severity on the control of obstacle crossing in people with idiopathic Parkinson's disease (PD). Forty-five subjects participated in the study, including 15 patients with mild PD (classified as stage 1 to 1.5 of the Hoehn and Yahr Rating Scale), 15 patients with moderate PD (classified as stage 2 to 3 of the Hoehn and Yahr Rating Scale), and 15 neurologically healthy individuals.