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Seamas C Donnelly, Tick-borne encephalitis—a substantial increase in cases in Western Europe, QJM: An International Journal of Medicine, Volume 116, Issue 12, December 2023, Page 971, https://doi.org/10.1093/qjmed/hcad269
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Tick-borne encephalitis (TBE) is a severe viral disease that predominantly affects the central nervous system. This debilitating condition is caused by the tick-borne encephalitis virus (TBEV), and while historically rare in Western Europe, it has been endemic in forested regions of Asia and eastern Europe. There has been a substantial increase in cases observed this year in Western Europe. We therefore welcome the authoritative Commentary piece published in this issue of the Journal by Dr. Neyhazi and colleagues from Ghalib University, Afghanistan, on this worrying trend. They highlight that over a ×7-year period (2016–22), there were 1223 cases identified in Western Europe. To date in 2023, there have been just over 19 000. They discuss the importance of having a low threshold to consider the diagnosis, the treatment and regional strategies to prevent the disease. The European subtype of TBEV is associated with 20–30% of patients exhibiting central nervous system involvement of which up to 30% will have prolonged neurological sequelae. Overall mortality rates of between 0.5% and 2% are reported.1
Identification of rare genetic variants in the pathogenesis of idiopathic pulmonary fibrosis
Idiopathic pulmonary fibrosis (IPF) is a progressive fibrotic lung condition with a mean survival of between 3 and 4 years. It is well recognized that there is a significant genetic predisposition for this disease, particularly in those patients presenting at a younger age. Genome-wide association studies have begun to dissect specific rare genetic variants implicated in this disease. Genetic variations in MUC5B and its family members were the first gene family implicated in IPF.2 There are now over two dozen genes associated with either the diagnosis or prognosis associated with IPF.3–6 There still remains a significant amount of the genetic predisposition not defined.
We therefore welcome the article in the current issue of the Journal by Dr. Guo and colleagues from the Central South University, Changsha, China, where they analysed integrated datasets which included not only whole genome sequencing but also RNAseq and scRNA-seq data sets to further identify new rare variants potentially implicated in IPF. This builds on the important initial genome-wide association studies and the integrative analysis in this manuscript provides additional biological insights. This article not only deepens our mechanistic understanding but also opens new avenues for functional validation and therapeutic exploration.