Rev Invest Clin
-
Gene expression alterations have been implicated in suicide pathology. However, the study of the regulatory effect of DNA methylation on gene expression in the suicidal brain has been restricted to candidate genes. ⋯ The integration of different omic technologies provided novel candidates for the investigation of genes whose expression is altered in the suicidal brain and their potential regulatory mechanisms.
-
Dear Editor, I would like to share ideas on the publication by Olivares- Gazca et al.1, titled: Infusion of convalescent plasma is associated with clinical improvement in critically ill patients with COVID-19: A pilot study. The authors stated that "although other treatment were also administered to the patients and as a result data are difficult to interpret, it seems that the addition of CoPla improved pulmonary function1." In fact, it is possible that convalescent plasma therapy might be useful in management of the COVID-19 patients.
-
Andersen-Tawil syndrome (ATS) is a cardiac channelopathy that is inherited in an autosomal dominant way, and it is characterized by a triad of periodic paralysis, ventricular arrhythmias, and includes some dysmorphic features with incom- plete penetrance and variable expression that result in a challenging diagnosis. ⋯ Extra- cardiac manifestations were a common finding in this series of ATS type1 at high risk of SCD. Its recognition could help the clinician in the early identification of patients with ATS, especially for the cardiologist since they are commonly referred only for evaluation of ventricular arrhythmias.
-
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.
-
The open access (OA) publishing, where a reader- pays economy has been replaced by an author-pays model, began at the end of the 20th century. This movement arose as an attempt to avoid excessive costs and copyright transfer agreements inherent to the subscription model.