Articles: ninos.
-
Pharmacogenomics (PGx), one of the several tools of precision medicine, has been slowly implemented in the clinic during the past decades. This process generally starts with direct and indirect genotype-phenotype associations of gene variants and drug efficacy, or adverse drug reactions, followed by replication and validation studies. Institutional efforts led by the PGx Research Network, The PGx Knowledge Base, and The Clinical Pharmacogenetics Implementation Consortium, mine all available data for further validation or research in additional populations. ⋯ Here, we aim to discuss the steps of this process and list existing actionable drug-gene pairs. Moreover, we describe the current status of PGx knowledge in populations from Mexico for actionable variants on the 19 genes listed by present PGx guidelines affecting 47 drugs. Our review collects current allele frequency information for these actionable variants, lists gaps of PGx information for relevant markers, and highlights the importance of continuing PGx research in Native and Mestizo populations.
-
Fukuyama congenital muscular dystrophy (FCMD) is the most common form of a group of autosomal recessive disorders characterized by altered α-dystroglycan glycosylation and caused by FKTN gene mutations. However, mutations of this gene may cause a broad range of phenotypes, including Walker-Warburg syndrome, muscle-brain-eye disease, FCMD, limbgirdle muscular dystrophy without mental retardation, and cardiomyopathy with no or minimal skeletal muscle weakness. ⋯ This is the first report demonstrating that heterozygous individuals for the FKTN p.Gly424Ser mutation were healthy, while two homozygous brothers suffered severe DCM, strongly suggesting that this FKTN mutation is a rare cause of autosomal recessive DCM.
-
Current Centers for Disease Control and Prevention guidelines state that patients with moderate to severe asthma may be at greater risk for more severe disease if infected with SARS-CoV-2; however, no published data support this suggestion. During this pandemic, it is recommended that patients with asthma continue taking all controller inhalers and other asthma medication as prescribed to prevent exacerbations and limit outpatient clinic and emergency room exposure. Symptoms that may differentiate COVID-19 from asthma exacerbations caused by another trigger may include fever, fatigue, anorexia, or myalgias. Patients with suspected or confirmed COVID-19 should avoid nebulizer treatments due to the risk of aerosolization.
-
No specific data exists regarding management of patients with cystic fibrosis (CF) who are infected with COVID-19. Based on expert opinion, strategies for outpatient management include use of elexacaftor-tezacaftor-ivacaftor to reduce pulmonary exacerbations, telemedicine, adherence to prescribed regimens, prompt and aggressive treatment of CF exacerbations, and communication about COVID-19 with patients with CF. Strategies for inpatient management may vary due to special precautions to avoid the aerosolization of COVID-19 with the use of nebulized medications and other therapies.