1.Early-onset Parkinson's disease with mutations in both the PRKN gene and the APOB gene:A case report
Shijia BING ; Xia YI ; Xiangqi TANG
Journal of Central South University(Medical Sciences) 2024;49(4):637-642
The incidence rate of Parkinson's disease ranks the second among degenerative diseases of the nervous system,only lower than Alzheimer's disease.Early-onset Parkinson's disease(EPOD)refers to Parkinson's disease with initial symptoms appearing before the age of 50.EOPD is associated with certain genetic mutations and has distinct clinical features.This study reports a case of EOPD with mutations in both the PRKN and the APOB genes.The patient presented with the initial symptom of unstable walking at the age of 28,followed by bradykinesia,limb tremors,masked face,shuffling gait,and cogwheel rigidity in both upper limbs.The blood lipid test showed total cholesterol of 6.48 mmol/L and low-density lipoprotein cholesterol of 4.13 mmol/L.Genetic testing showed a deletion in exon 5 and a point mutation[c.850G>C(p.Gly284Arg)]in exon 7 of the PRKN gene,as well as a point mutation[c.10579C>T(p.Arg3527Trp)]in exon 26 of the APOB gene.Based on these clinical manifestations and examination results,the patient was diagnosed with EOPD.The compound heterozygous mutations in the PRKN gene,as well as the combined mutations in the PRKN and APOB genes,are both reported for the first time,expanding the spectrum of genetic mutations associated with EOPD.
2.Preliminary observation and analysis of the characteristics of gut microbiota in patients with schizophrenia.
Xia HUANG ; Min ZHUO ; Shijia LI ; Fengchun WU ; Jun CHEN ; Junnan HAN ; Kai. WU
Chinese Journal of Nervous and Mental Diseases 2019;45(7):401-406
Objective To investigate the characteristics of gut microbiota in patients with schizophrenia. Methods The composition of the fecal microbiota in 16 schizophrenia patients and 20 healthy controls was analyzed by 16S rRNA sequencing. Results At the phylum level, TM7 was increased in the patients (P<0.05). At the class level, the abundance of Peptostreptococcaceae, Lactobacillaceae and Actinomycetaceae in the patients increased (P<0.05), whereas the abundance of Tissierellaceae decreased relative to health controls (P<0.05). At the genus level, Actinomyces, Scardovia, Atopobium, Moryella, G07 and Lactobacillus were increased in the patients relative to healthy controls (P<0.05). Prediction of functional properties of bacterial flora showed that the metabolic pathways of fatty acids and pyruvate were different between the patients and healthy controls (P<0.05). Conclusion The present study reveals an alteration in the characteristics of gut microbiota in schizophrenia patients which may be an auxiliary diagnosis marker for clinical diagnosis of schizophrenia.
3.Correlation of serum metabolites and clinical features in patients with peripheral T-cell lymphoma
Yishuo DUAN ; Jun RAO ; Jing XIA ; Naya MA ; Shijia LIN ; Fu LI ; Shuhan TANG ; Sha ZHOU ; Yunjing ZENG ; Xinlei LI ; Dezhi HUANG ; Qiong LI ; Bangdong LIU ; Xianlan ZHAO ; Jin WEI ; Xi ZHANG
Journal of Army Medical University 2024;46(4):352-358
Objective To explore the changes in serum energy metabolites in patients with peripheral T-cell lymphoma,and investigate serum biomarkers for monitoring peripheral T-cell lymphoma from the perspective of energy metabolism.Methods Multiple/selected reaction monitoring(MRM/SRM)was used to detect the energy-related metabolites in the sera of 16 patients with newly diagnosed peripheral T-cell lymphoma admitted in the Hematology Medical Center of the Second Affiliated Hospital of Army Medical University from November 2020 to December 2021,as well as 10 recruited healthy volunteers.The corresponding clinical data including medical history,laboratory results and image data were collected and retrospectively analyzed.Results Significant differences were seen in the contents and expression profiles of serum energy metabolism-related products between the patients and the healthy volunteers.The patients had significantly reduced serum contents of cyclic AMP,succinate,citrate and cis-aconitate(P<0.05),and elevated D-glucose 6-phosphate content(P<0.05).The serum contents of citrate and succinate were negatively correlated with the risk stratification(low-,moderate-and high-risk)and clinical stage of the disease(P<0.05).Meanwhile,there was a negative correlation between the contents of L-malic acid and citrate and the mid-term efficacy evaluation results,such as complete/partial response(CR/PR)or stable disease(SD)(P<0.05).For patients with extranodal NK/T cell lymphoma(n=10),there were also significant reductions in the contents of cyclic AMP,succinate,citrate,isocitrate and cis-aconitate in the sera of patients compared with healthy volunteers(P<0.05),and the contents of citrate and succinate were negatively correlated with the clinical stage(P<0.05)and were rather correlated with mid-term efficacy evaluation results(CR/PR or SD)(P<0.05).For patients with angioimmunoblastic T-cell lymphoma(n=6),the serum contents of cyclic AMP,citrate and succinate were significantly lower,while the content of D-glucose 6-phosphate was higher when compared with the healthy volunteers(P<0.05),and the content of succinate was negatively correlated with both clinical stage and risk grade of the patients(P<0.05).Conclusion There are 5 serum differential metabolites identified between patients with peripheral T-cell lymphoma and healthy controls,and succinate and citrate are expected to be serum biomarkers of peripheral T-cell lymphoma.
4.Effects of the continuous nursing education on anxiety level of caregivers of patients with all-robot coronary artery bypass surgery
Cuijuan ZHANG ; Shijia XIA ; Huiqiong LI ; Fan ZHANG ; Jianjun DENG
Sichuan Mental Health 2023;36(4):372-376
BackgroundMost of the researches on continuous nursing education is from the perspective of patients, and there is a lack of studies on the impact of continuous nursing education on patient caregivers, and the care quality of caregivers is closely related to postoperative rehabilitation status of the patients. ObjectiveTo investigate the effect of continuous nursing education on anxiety relief of caregivers of patients with all-robot coronary artery bypass surgery, and to provide references for improving caregivers' anxiety and promoting patients' recovery. MethodsA total of 120 caregivers of patients with all-robot coronary artery bypass surgery at the First and Sixth Center of 301 Chinese PLA General Hospital were included from January 1, 2021 to December 31, 2022. The caregivers were randomly divided into study group and control group with 60 cases in each group by systematic random sampling method. Before the patient discharge from the hospital, all caregivers received routine nursing education. The study group received continuous nursing education for 4 weeks after patient discharged. Self-rating Anxiety Scale (SAS) was used to evaluate the two groups before and one month after discharge. ResultsOne month after discharge, SAS score in the study group was significantly lower than that in the control group [(57.77±14.08) vs. (70.19±13.60), t=-4.913, P<0.01], and the proportion of SAS score above 60 in the study group was significantly lower than that in the control group (41.67% vs. 75.00%, χ2=-13.714, P<0.01). ConclusionContinuous nursing education may help reduce the level of anxiety in caregivers of patients with all-robot coronary artery bypass surgery.