1.Risk factors of cognitive disorder in middle-aged and elderly patients with Parkinson's disease:a retrospective case-control study
Fanyuan MA ; Weiming JIAN ; Lijun AN ; Liping WU ; Hua ZHANG
Academic Journal of Naval Medical University 2025;46(9):1169-1176
Objective To analyze the relationship between type 2 diabetes mellitus(T2DM)and cognitive disorder in middle-aged and elderly patients with Parkinson's disease(PD),and to identify risk factors for cognitive disorder in PD patients.Methods The clinical data of patients aged≥50 years and hospitalized for PD in Xijing Hospital of Air Force Medical University from Jan.2010 to Dec.2021 were collected,including demographic characteristics,general clinical features,laboratory indicators,etc.The cognitive status was evaluated by mini-mental state examination(MMSE).A total of 281 PD patients were assigned to T2DM group or non-T2DM group,and MMSE original score,standardized score,and cognitive status were compared between the 2 groups.The 281 patients were reassigned to normal cognition group or abnormal cognition group,then multivariate logistic regression was used to analyze the risk factors of cognitive disorder in middle-aged and elderly patients with PD.Results The MMSE original score and standardized score in the T2DM group were significantly lower than those in the non-T2DM group(23[18,25]vs 24[21,27],P=0.011;-1[-3,2]vs 1[-1,3],P=0.004),and the detection rate of cognitive disorder was significantly higher than that of the non-T2DM group(53.57%[45/84]vs 33.50%[66/197],P=0.002).Multivariate logistic regression analysis showed that T2DM(odds ratio[OR]=2.452,95%confidence interval[95%CI]1.397-4.306,P=0.002),place of residence(OR=2.208,95%CI 1.261-3.868,P=0.006),and age(OR=1.054,95%CI 1.006-1.104,P=0.028)were risk factors for cognitive disorder in middle-aged and elderly patients with PD,while serum uric acid(OR=0.274,95%CI 0.098-0.768,P=0.014)was protective factor for cognitive disorder in middle-aged and elderly patients with PD.Conclusion T2DM,rural area,advanced age,and hypouricemia are independent risk factors for cognitive disorder in middle-aged and elderly patients with PD.For middle-aged and elderly PD patients with T2DM,screening for cognitive disorder should be strengthened for early prevention and intervention.
2.The analysis of gene screening results for common hereditary hearing loss in 2 102 pregnant women in Dali area.
Bowen WANG ; Fanyuan MA ; Chunjie TIAN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2024;38(11):1061-1065
Objective:By conducting genetic testing of hereditary hearing loss in pregnant women within 17 weeks of gestation in Dali areas, the importance of genetic testing and genetic counseling during pregnancy was emphasized. Methods:Twenty-one mutation sites of 4 hearing loss genes, including GJB2, GJB3, SLC26A4 and mtDNA, were detected by PCR amplification technology. The positive ratio, mutation ratio and ethnic distribution of positive samples were statistically described. Results:The positive ratios of GJB2 and SLC26A4 genes were 1.24% and 1.43%, respectively, with mutation rates of 40.62% and 46.88% in the positive samples, respectively. The positive ratio of GJB3gene was 0.19%, and mtDNA mutation genes accounted for 0.14%, and all of them were mtDNA(Heterozygous). There was only one case of GJB2/SLC26A4 double positive multi-gene mutation, with a positive ratio of 0.05%. The frequency of GJB2 c. 235delC site was the highest, accounting for 65.38% of GJB2 mutation genes and 26.56% of mutation gene samples. Conclusion:GJB2 and SLC26A4 are the most common genes of hearing loss, and GJB2 c. 235delC site is the most common mutation site. Identifying the hearing loss mutation site is of great importance to prevent the birth of hereditary hearing loss children, and genetic diagnosis, genetic counseling, and appropriate intervention are crucial to alleviate congenital problems.
Humans
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Female
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Pregnancy
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Sulfate Transporters/genetics*
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Connexin 26
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Genetic Testing/methods*
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Connexins/genetics*
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Mutation
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Hearing Loss/diagnosis*
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DNA, Mitochondrial/genetics*
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Adult
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Membrane Transport Proteins/genetics*
;
Genetic Counseling

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