Association of Toll-like receptor 2, 4, and 9 gene polymorphism with high altitude induced thrombosis patients in Indian population
Published on: 8th February, 2019
Venous Thromboembolism (VTE) is a multifactorial disease that is influenced by individual genetic background and various environmental factors, high altitude (HA) being the one. HA exposure may cause release of several damage associated molecular patterns (DAMPs), which act as ligand for various immune receptors. Previous studies on western population involving SNPs analysis of TLRs demonstrated that TLRs are involved in development and progression of several cardiovascular diseases. But, no such study has been done in Indian population in context of HA exposure. TLRs, being receptors play a significant role in manifestation and elimination of diseases by recognition of specific ligands and downstream signal transduction therefore; the genetic variation in TLRs could be implicated for imparting varying response of individuals to discrete diseases.
Therefore, in accordance with it, in present study changes in protein structures of TLR2 and TLR4 due to presence of SNP were accessed by in-silico tools to observe whether the mutation has effect on protein structure and integrity which further influencing its function. The results showed that SNP harbouring protein has decreased functional pockets, thus may be protective for disease. Taking this lead further to genotypic level, first time association between Toll-like receptor genes polymorphism and risk of high altitude induced venous thrombosis is analyzed in Indian population by PCR RFLP method. Though the result showed initial trend that TLR2 and TLR9 SNP are monomrphic in distribution and for TLR4 there was no significant difference in distribution of SNP between healthy and HA-DVT group, these SNPs have potential to be used as susceptibility markers if studied in large population size.
A Case Report on Paradoxical Emboli
Published on: 17th October, 2024
Venous Thromboembolism (VTE) is a major public health concern, affecting approximately 900,000 people annually in the United States. In rare cases, a Patent Foramen Ovale (PFO) may allow a venous thrombus to cross into the arterial circulation, causing a paradoxical embolism. This case report presents a 46-year-old male who developed left renal artery stenosis after a paradoxical embolism, likely triggered by a prolonged flight and binge alcohol consumption. The patient was found to have a moderate-sized PFO and renal infarction, confirmed by imaging studies. Despite initial anticoagulation therapy and a planned stenting procedure, intraoperative findings revealed only mild stenosis, leading to cancellation of the stent placement. The patient ultimately underwent PFO closure with an Amplatzer Talisman device. This case underscores the diagnostic challenges in managing paradoxical embolism and the need for individualized treatment, particularly concerning anticoagulation duration, the decision for PFO closure, and post-procedural antithrombotic therapy. Further research is required to establish optimal management strategies for cryptogenic embolic events.
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