Publications by authors named "Suppachok Wetchaphanphesat"
Background: Severe acute respiratory syndrome coronavirus 2 vaccination reduces morbidity and mortality associated with coronavirus disease 2019 (COVID-19); unfortunately, it is associated with serious adverse events, including sudden unexplained death (SUD).
Objective: We aimed to study the genetic basis of SUD after COVID-19 vaccination in Thailand.
Methods: From April to December 2021, cases with natural but unexplained death within 7 days of COVID-19 vaccination were enrolled for whole exome sequencing.
The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetylcholine receptor, has been reported to be beneficial in the slow-channel congenital myasthenic syndrome. Here we report a prospective open label study of fluoxetine treatment in some affected members of a Thai family with slow-channel congenital myasthenic syndrome caused by a novel p.
View Article and Find Full Text PDFBackground: About 50 % of Thai patients with adult-onset spinocerebellar ataxia (SCA) was Machado-Joseph disease (MJD), SCA1, SCA2 and SCA6. The author investigated further on less common SCAs in the patients without any known mutations.
Methods: DNA samples of 82 index patients who were genetically excluded MJD, SCA1, SCA2, SCA6, SCA7 and dentatorubro-pallidoluysian atrophy (DRPLA) were examined.
Article Synopsis
- Primary familial brain calcification (PFBC) is a neurological disorder marked by calcium phosphate buildup in the brain, associated with mutations in specific genes like SLC20A2, PDGFB, and PDGFRB.
- Researchers discovered mutations in the XPR1 gene, which is responsible for phosphate export, in multiple families with PFBC.
- These mutations disrupt phosphate export, suggesting that XPR1 plays a crucial role in maintaining phosphate balance in relation to PFBC.
Background: Non-ataxic symptoms of spinocerebellar ataxias (SCAs) vary widely and often overlap with various types of SCAs. Duration and severity of the disease and genetic background may play a role in such phenotypic diversity. We conducted the study in order to study clinical characteristics of common SCAs in Thailand and the factors that may influence their phenotypes.
View Article and Find Full Text PDFArticle Synopsis
- * A study analyzed the SLC20A2 gene, which is linked to IBGC, involving 218 participants from 29 families to identify genetic mutations contributing to the disease.
- * The research discovered 12 new mutations and confirmed that SLC20A2 mutations are responsible for about 41% of familial IBGC cases, highlighting the complexity of diagnosing this condition due to its diverse clinical manifestations.
Article Synopsis
- The slow-channel congenital myasthenic syndrome (SCCMS) is a genetic neuromuscular disorder linked to mutations in the acetylcholine receptor (AChR), inherited in an autosomal dominant manner.
- A study identified the p.Gly153Ser mutation in a large Thai family affected by SCCMS, marking its first report in Asian patients after being previously documented only in Caucasians.
- The clinical symptoms observed in affected individuals included drooping eyelids (ptosis), eye movement difficulties (ophthalmoparesis), and weakness in neck and finger muscles, showing considerable variation among patients.