Background Platelets play a significant role in pathophysiology of ischemic stroke since they are involved in the formation of intravascular thrombus after erosion or rupture of the atherosclerotic plaques. Platelet (PLT) count and Mean platelet volume (MPV) are the two significant parameters that affect functions of the platelets. Methods In the current study MPV and PLT count was evaluated using flow cytometry and cell counter. SonoClot analysis was carried out to evaluate Activated Clot Timing (ACT), Clot Rate (CR) and Platelet Function (PF). Genotyping was carried out GSA and Sanger sequencing and expression analysis was carried out using RT-PCR. In silico analysis was carried out using GROMACS tool and UNAFold. The interaction of significant proteins with other proteins was predicted using STRING database. Results 96 genes were analyzed and a significant association of THPO (rs6141) and ARHGEF3 (rs1354034) was observed with the disease and its subtypes. Altered genotypes were associated significantly with increased MPV, decreased PLT count and CR. Expression analysis revealed a higher expression in patients bearing the variant genotypes of both the genes. In silico analysis revealed that mutation in THPO gene leads to the reduced compactness of protein structure. mRNA encoded by mutated ARHGEF3 gene increases the half-life of mRNA. The two significant proteins interact with many other proteins especially the ones involved in the platelet activation, aggregation, erythropoiesis, megakaryocyte maturation, and cytoskeleton rearrangements suggesting that they could be important player in determination of MPV values. Conclusions In conclusion the current study demonstrated the role of higher MPV affected by genetic variation in the development of IS and its subtypes. The results of the current study also indicate that higher MPV can be used as a biomarker for the disease and altered genotypes and higher MPV can be targeted for better therapeutic outcomes.
Background: Cerebellar ataxia is a progressive neurodegenerative condition that affects motor coordination, leading to challenges in balance, movement, and daily activities. With limited pharmacological treatments available, physical therapy has emerged as a promising approach to manage symptoms and enhance functional abilities in individuals with cerebellar ataxia. Purpose: To investigate the efficacy of a structured physiotherapeutic program in decreasing the severity of ataxia and improving balance, functional independence, functional sitting abilities and gait velocity in patients affected with cerebellar ataxia in Indian rural population. Methodology: 26 patients of cerebellar ataxia, aged 18–65 years were included as per selection criteria and were randomly divided into two equal groups, Group A(n=13) and Group B(n=13). All the patients were assessed for severity of cerebellar ataxia, balance, functional status along with gait velocity using SARA, BBS, m-FIM and FIST respectively. Group A received Structured Physiotherapy Program whereas Group B received Home Based Exercise Regimen. Both the groups were given interventions for a total of 4 weeks, with 6 sessions per week. Results: The results showed statistically significant difference in scores of SARA and FIST in group A (t value 3.054 and -4.052 respectively) as well as in group B (2.555 and -2.399 respectively) whereas statistically significant difference was found in the scores of BBS, m-FIM and Gait velocity in group A only. Conclusion: Structured physiotherapeutic program and home based exercise regimen, both were effective, in decreasing the severity of ataxia and improving functional sitting abilities in patients with cerebellar ataxia. But home based exercise regimen was more efficacious in improving functional sitting abilities. Further, only structured physiotherapeutic program was only effective in improving motor recovery in patients with cerebellar ataxia belonging to rural areas. Key words: Cerebellar ataxia, Balance, Home based exercises, Motor recovery, Physiotherapy.
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