Mutations in five PARK genes (SNCA, PARKIN, DJ-1, PINK1, and LRRK2) are well-established genetic causes of Parkinson disease (PD). Recently, G2385R substitution in LRRK2 has been determined as a susceptibility allele in Asian PD. The objective of this study is to determine the frequency of mutations in these PARK genes in a Korean early-onset Parkinson disease (EOPD) cohort. The authors sequenced 35 exons in SNCA, PARKIN, DJ-1, PINK1, and LRRK2 in 72 unrelated EOPD (age-at-onset ≤50) recruited from ten movement disorders clinics in South Korea. Gene dosage change of Neurogenetics
Ischemic stroke is caused by an occlusion by a thrombus or embolus in a cerebral artery, preventing oxygenated blood from reaching the brain and causing the necrosis of nerve cells. This paper summarizes the serum candidate markers associated with cardiovascular disease and atrial fibrillation (AF) disease that enable an early diagnosis of ischemic stroke studied thus far and compares the odds ratio (OR) of each marker. This study examined the effect size of these serum candidate markers using meta-analysis techniques. The academic database search screening for articles containing the keywords "cardiovascular disease," "atrial fibrillation," "ischemic stroke," and "serum marker" was limited to results for patients with ischemic stroke. The most derived markers in this study were N-terminal pro-B-type natriuretic peptide (NT-pro-BNP), D-dimer, C-reactive protein (CRP), and glial fibrillary acidic protein (GFAP), the rest being investigated individually. In conclusion, NT-pro-BNP appears to be very useful for the early diagnosis of ischemic stroke. Primarily, it is a marker of AF, and more AF markers will be uncovered and studied in the future.
Rheumatoid arthritis refers to acute and chronic arthritis due to unexplained autoantibody attack. Rheumatoid arthritis should be accompanied by difficulty in mobility and severe distress due to the progression of systemic arthritis. Therefore, this study early diagnoses the effects of Rheumatoid factor (RF), C-reactive protein (CRP), and Anti-cyclic citrullinated peptide (Anti-CCP), which are typical serum markers for rheumatoid arthritis by meta-analysis. Pubmed and EMBASE, were used as PICO criteria, and two independent researchers selected papers according to the criteria set in this study.The selection criteria was a study of patients with rheumatoid arthritis who developed early onset, and the paper was evaluated using the NCS. Forest plot and Funnel plot graphs for each serum marker were calculated using Revman 5.4. After finding 193 papers on Pubmed and 184 papers on EMBASE and selecting according to the criteria, a total of 41 papers were used for the analysis. The magnitude of the effect that appears in the Forest plot of RF with the Mean differnce value is 134.34, CRP is 21.42 and Anti-CCP is 270.41. The magnitude of the effect of Anti-CCP in meta-analysis was analyzed to be larger than that of RF and CRP, and it is considered that the development of early-diagnosis serum markers using Anti-CCP and additional retrospective studies are highly effective. The combination of RF, CRP, and Anti-CCP as a panel marker is expected to be very efficient.
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