Mycophenolic acid (MPA) is a potent antiproliferative drug prescribed to prevent acute rejection in kidney transplantation. MPA reversibly inhibits the enzymes involved in the synthesis of guanosine nucleotides, thus preventing DNA replication of immune cells. Consequently, the repression of both cell and humoral immunity induces renal allograft tolerance. MPA is an effective and safe immunosuppressive drug, but some patients show variability in drug concentration, acute rejection, graft dysfunction, or MPA-related adverse events. Although the pharmacogenomics of immunosuppressive drugs has been widely investigated, MPA has been explored to a lesser extent. This review of MPA pharmacogenomic studies, included pharmacokinetics, adverse events, and main clinical outcomes of MPA treatment in kidney transplantation. Associations of variants in genes encoding MPA metabolizing enzymes, transporters, and targets with drug efficacy and safety are described. Most pharmacogenetic studies have focused on small sample sizes and few simultaneously analyzed genetic variants. Some studies reported significant associations of pharmacokinetics- and pharmacodynamics-related genes with MPA exposure, acute rejection, graft dysfunction, hematological events, and gastrointestinal complications. However, even large cohorts did not replicate the findings, possibly due to divergent study design, immunosuppressive scheme, follow-up time, and other factors. Finally, the heterogeneity of aspects between studies limit conclusions on pharmacogenetic biomarkers of MPA in kidney transplantation.

As the opioid epidemic continues to grow across the United States, the number of patients requiring treatment for opioid use disorder continues to climb. Although medication-assisted treatment presents a highly effective tool that can help address this epidemic, its use has been limited. Nonetheless, with easier dosing protocols (compared to the more complex dosing required of methadone due to its long and variable half-life) and fewer prescribing limitations (may be prescribed outside the setting of federally approved clinics), the increase in buprenorphine use in the United States has been dramatic in recent years. Despite buprenorphine’s demonstrated efficacy, patient-specific factors can alter the response to the medications, which may lead to treatment failure in some patients. Clinical characteristics (sex, concurrent medications, and mental health comorbidities) as well as social determinants of health (housing status, involvement with the criminal justice system, and socioeconomic status) may impact treatment outcomes. Furthermore, a growing body of data suggests that genetic variations can alter pharmacological effects and influence therapeutic response. This review will cover the available pharmacogenomic data for the use of buprenorphine in the management of opioid use disorders. Pharmacogenomic determinants that affect opioid receptors, the dopaminergic system, metabolism of buprenorphine, and adverse events are discussed. Although much of the existing data comes from observational studies, clinical research is ongoing. Nevertheless, the development of pharmacogenomic-guided strategies has the potential to reduce opioid misuse, improve clinical outcomes, and save healthcare resources.

The identification of the genetic causes and the underlying pathogenic mechanisms in early-onset epilepsies has proved to be essential in improving the efficacy of therapeutic decisions and the overall patient management, especially in the era of precision medicine. We report an infant presenting with a cluster of focal motor seizures with autonomic manifestations at day 3 of life. Electroencephalograms showed multifocal epileptic abnormalities and a burst-suppression pattern. Neurological examination showed poor visual fixation and hypotonia. Neuroimaging was normal. Seizures remitted with phenytoin and were well-controlled after the switch to oral carbamazepine. In the hypothesis of a genetic etiology, next-generation sequencing panel for epileptic encephalopathies was performed and identified a de novo missense mutation in KCNQ2: c.1742G>A; p.(Arg581Gln) (NM_172107.2). This case report highlights the importance of the early recognition of the electroclinical phenotype and the detection of the underlying genetic cause in the implementation of “tailored” therapies in early-onset genetic epilepsies.

Suicide is a dangerous clinical event causing 2% of human mortality. Due to its inherent danger to life and complexity, suicide studies are in high demand. Many resources have been allocated to the development of predicting suicides, its prevention and useful medical interventions so that biomedical and scientific study of the subject is indispensable. Historically, knowledge on suicide was largely based on mental illness studies. The diagnosis of suicide,mood disorders and the treatments have been reported since over 2000 years ago (Hippocrates in 460-377, BC). Despite a long history of association between suicide and mood disorder, the related terminology have evolved greatly. Yet, mortality reduction has been minimal despite many diagnostic and therapeutic studies and no effective therapeutic means have been developed. To improve on this scenario, we review the history and literature on suicide.