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1.
International Journal of Traditional Chinese Medicine ; (6): 736-742, 2023.
Article in Chinese | WPRIM | ID: wpr-989686

ABSTRACT

Objective:To analyze the molecular mechanism of Zhenqi Fuzheng Capsules in the adjuvant treatment of AIDS by network pharmacology method and molecular docking technology.Methods:The active components and targets of Zhenqi Fuzheng Capsules were obtained through TCMSP, and the AIDS-related targets were obtained through GeneCards, OMIM and DrugBank databases. The intersection target PPI network was constructed through STRING 11.5 database, and Cytoscape 3.9.1 software was used for network topology analysis; Metascape database was used for GO function and KEGG pathway enrichment analysis of core targets; Cytoscape 3.9.1 was used to construct Zhenqi Fuzheng Capsules component-target-pathway network; Autodock Tools software was used to carry out molecular docking of core targets and active components.Results:Totally 31 active components and 180 targets of Zhenqi Fuzheng Capsules were screened out. TNF, IL6, AKT1, IL1B, TP53, VEGFA, RELA, EGFR and CASP3 were identified as the core targets. GO functional enrichment analysis obtained 1 436 biological processes, 53 cellular components, and 117 molecular functions. KEGG pathway enrichment analysis obtained 167 pathways, which were related to pathways in cancer, AGE-RAGE signaling pathway in diabetic complications, and IL-17 signaling pathway was closely related. Molecular docking results showed that core targets such as AKT1 and TNF had good binding activity to quercetin, kaempferol, and luteolin.Conclusion:The main active components of Zhenqi Fuzheng Capsules in the adjuvant treatment of AIDS are quercetin, kaempferol and luteolin, which may treat AIDS through the IL-17 signaling pathway.

2.
International Journal of Cerebrovascular Diseases ; (12): 298-302, 2023.
Article in Chinese | WPRIM | ID: wpr-989228

ABSTRACT

Homocysteine is closely associated with extracranial and intracranial atherosclerosis, and its main pathogenesis includes oxidative stress, lipid metabolism disorder and vascular endothelial dysfunction. As a protein modification related to homocysteine, homocysteinylation can promote the occurrence and development of cerebral atherosclerosis by promoting oxidation, changing lipid function and destroying vascular endothelial function. This article reviews the role of homocysteinylation in cerebral atherosclerosis, and discusses the possibility of preventing cerebral atherosclerosis by homocysteinylation.

3.
Sichuan Mental Health ; (6): 283-288, 2023.
Article in Chinese | WPRIM | ID: wpr-986754

ABSTRACT

BackgroundPsychological problems such as depression and anxiety are common in pregnant women, and many studies have found that body image disturbance is closely related to depression and anxiety symptoms. Still, there is large variability in previous findings. ObjectiveTo review the researches on the relation of body image disturbance to depression and anxiety in pregnant women, and to provide a reference for interventions targeting maternal body image disturbance and depression and anxiety symptoms. MethodsOn January 10, 2023, well qualified literature focusing on the relationship between body image disturbance and depression and anxiety symptoms in pregnant women were searched in PubMed, Embase, CINAHL, Web of Science, China National Knowledge Infrastructure (CNKI), VIP databases, Wanfang Data Database and China Biology Medicine disc (CBMdisc) from inception to January 1, 2023. The research content, factors influencing body image disturbance and relevant findings were extracted and summarized for analysis. ResultsA total of 14 articles were included in this review. The body image disturbance in pregnant women was manifested predominantly by an excessive concern about body weight and shape, and was affected by demographic characteristics, sociocultural factors, obstetric factors and other factors. Furthermore, body image disturbance significantly predicted the occurrence of depression, and proved a close relationship with anxiety symptoms. ConclusionBody image disturbance seriously affects the physical functioning and psychological status of pregnant women and may further exacerbate the symptoms of depression and anxiety.

4.
Chinese Medical Journal ; (24): 951-958, 2023.
Article in English | WPRIM | ID: wpr-980882

ABSTRACT

BACKGROUND@#The clinical features of enthesitis in patients with psoriatic arthritis (PsA) have been reported in some Western countries, but data in China are very limited. This study aimed to describe the characteristics of enthesitis in Chinese patients with PsA and compared them with those in other cohorts.@*METHODS@#Patients with PsA enrolled in the Chinese Registry of Psoriatic Arthritis (CREPAR) (December 2018 to June 2021) were included. Data including demographics, clinical characteristics, disease activity measures, and treatment were collected at enrollment. Enthesitis was assessed by the Spondyloarthritis Research Consortium of Canada (SPARCC), Maastricht ankylosing spondylitis enthesitis score (MASES), and Leeds enthesitis index (LEI) indices. A multivariable logistic model was used to identify factors related to enthesitis. We also compared our results with those of other cohorts.@*RESULTS@#In total, 1074 PsA patients were included, 308 (28.7%) of whom had enthesitis. The average number of enthesitis was 3.3 ± 2.8 (range: 1.0-18.0). More than half of the patients (165, 53.6%) had one or two tender entheseal sites. Patients with enthesitis had an earlier age of onset for both psoriasis and arthritis, reported a higher proportion of PsA duration over 5 years, and had a higher percentage of axial involvement and greater disease activity. Multivariable logistic regression showed that axial involvement (odds ratio [OR] 2.21, 95% confidence interval [CI], 1.59-3.08; P <0.001), psoriasis area and severity index (PASI) (OR: 1.03, 95% CI: 1.01-1.04; P = 0.002), and disease activity score 28-C reactive protein (DAS28-CRP) (OR: 1.25, 95% CI: 1.01-1.55; P = 0.037) were associated with enthesitis. Compared with the results of other studies, Chinese patients with enthesitis had a younger age, lower body mass index (BMI), a higher rate of positive human leukocyte antigen (HLA)-B27, more frequent dactylitis, and a higher proportion of conventional synthetic disease-modifying antirheumatic drugs' (csDMARDs) use.@*CONCLUSIONS@#Enthesitis is a common condition among Chinese patients with PsA. It is important to evaluate entheses in both peripheral and axial sites.


Subject(s)
Humans , Arthritis, Psoriatic/drug therapy , East Asian People , Enthesopathy/complications , Registries , Severity of Illness Index , Spondylarthritis/epidemiology
5.
Chinese Journal of Schistosomiasis Control ; (6): 331-339, 2023.
Article in Chinese | WPRIM | ID: wpr-997244

ABSTRACT

Objective To evaluate the protective effect of recombinant Schistosoma japonicum cystatin (rSj-Cys) against acute kidney injury induced by acute liver failure and unravel the underlying mechanism, so as to provide insights into the clinical therapy of acute kidney injury. Methods Twenty-four male C57BL/6J mice at ages of 6 to 8 weeks were randomly divided into the normal control group, rSj-Cys control group, lipopolysaccharide (LPS)/D-galactosamine (D-GaIN) model group and LPS/D-GaIN + rSj-Cys treatment group, of 6 mice each group. Mice in the LPS/D-GaIN group and LPS/D-GaIN + rSj-Cys group were intraperitoneally injected with LPS (10 μg/kg) and D-GaIN (700 mg/kg), and mice in the LPS/D-GaIN + rSj-Cys group were additionally administered with rSj-Cys (1.25 mg/kg) by intraperitoneal injection 30 min post-modeling, while mice in the rSj-Cys group were intraperitoneally injected with rSj-Cys (1.25 mg/kg), and mice in the normal control group were injected with the normal volume of PBS. All mice were sacrificed 6 h post-modeling, and mouse serum and kidney samples were collected. Serum creatinine (Cr) and urea nitrogen (BUN) levels were measured, and the pathological changes of mouse kidney specimens were examined using hematoxylin-eosin (HE) staining. Serum tumor necrosis factor (TNF)-α and interleukin (IL)-6 levels were detected using enzyme-linked immunosorbent assay (ELISA), and the expression of inflammatory factors and pyroptosis-related proteins was quantified in mouse kidney specimens using immunohistochemistry. In addition, the expression of pyroptosis-related proteins and nuclear factor-kappa B (NF-κB) signaling pathway-associated proteins was determined in mouse kidney specimens using Western blotting assay. Results HE staining showed no remarkable abnormality in the mouse kidney structure in the normal control group and the rSj-Cys control group, and renal tubular injury was found in LPS/D-GaIN group, while the renal tubular injury was alleviated in LPS/D-GaIN+rSj-Cys treatment group. There were significant differences in serum levels of Cr (F = 46.33, P < 0.001), BUN (F = 128.60, P < 0.001), TNF-α (F = 102.00, P < 0.001) and IL-6 (F = 202.10, P < 0.001) among the four groups, and lower serum Cr [(85.35 ± 32.05) μmol/L], BUN [(11.90 ± 2.76) mmol/L], TNF-α [(158.27 ± 15.83) pg/mL] and IL-6 levels [(56.72 ± 4.37) pg/mL] were detected in the in LPS/D-GaIN + rSj-Cys group than in the LPS/D-GaIN group (all P values < 0.01). Immunohistochemical staining detected significant differences in TNF-α (F = 24.16, P < 0.001) and IL-10 (F = 15.07, P < 0.01) expression among the four groups, and lower TNF-α [(106.50 ± 16.57)%] and higher IL-10 expression [(91.83 ± 5.23)%] was detected in the LPS/D-GaIN + rSj-Cys group than in the LPS/D-GaIN group (both P values < 0.01). Western blotting and immunohistochemistry detected significant differences in the protein expression of pyroptosis-related proteins NOD-like receptor thermal protein domain associated protein 3 (NLRP3) (F = 24.57 and 30.72, both P values < 0.001), IL-1β (F = 19.24 and 22.59, both P values < 0.001) and IL-18 (F = 16.60 and 19.30, both P values < 0.001) in kidney samples among the four groups, and lower NLRP3, IL-1β and IL-18 expression was quantified in the LPS/D-GaIN + rSj-Cys treatment group than in the LPS/D-GaIN group (P values < 0.05). In addition, there were significant differences in the protein expression of NF-κB signaling pathway-associated proteins p-NF-κB p-P65/NF-κB p65 (F = 71.88, P < 0.001), Toll-like receptor (TLR)-4 (F = 45.49, P < 0.001) and p-IκB/IκB (F = 60.87, P < 0.001) in mouse kidney samples among the four groups, and lower expression of three NF-κB signaling pathway-associated proteins was determined in the LPS/D-GaIN + rSj-Cys treatment group than in the LPS/D-GaIN group (all P values < 0.01). Conclusion rSj-Cys may present a protective effect against acute kidney injury caused by acute liver failure through inhibiting inflammation and pyroptosis and downregulating the NF-κB signaling pathway.

6.
Chinese Journal of Neurology ; (12): 305-312, 2023.
Article in Chinese | WPRIM | ID: wpr-994832

ABSTRACT

Objective:To analyze the clinical characteristics and genetic variation of 2 children with developmental and epileptic encephalopathy 8 (DEE8).Methods:Whole-exome sequencing (WES) was performed to determine the potential variants in the probands. Candidate variants identified by WES were validated by Sanger sequencing and quantitative real-time polymerase chain reaction. X chromosome inactivation (XCI) detection was performed in the proband 1′s mother and proband 2 to detect the allelic expression difference of ARHGEF9. Results:Both of the cases showed global developmental delay. Proband 1 presented with delayed motor and speech development, intellectual disability, and seizures. Electroencephalography of proband 1 showed slow background activity, with spikes, spike and waves in bilateral frontal and midline regions during sleep. While proband 2 showed delay in acquisition of language, motor skills, and cognition, but no seizures. It was identified that proband 1 carried a novel maternally derived heterozygous splicing variant (c.925-2A>T) in ARHGEF9 by WES, which was verified in Sanger sequencing. The XCI in proband 1′s mother was observed, and the expression ratio of mutant ARHGEF9 and wild-type was 0∶100%. A novel exon 3-10 heterozygous deletion of ARHGEF9 was identified in proband 2, and this variant was not found in his unaffected parents. Conclusions:DEE8 disorders are relatively rare. Most of the patients have varying degrees of neurodevelopmental phenotype, but epilepsy is not a specific clinical manifestation. ARHGEF9 gene deletion and splicing variation may be the genetic cause of the 2 probands, and above findings have enriched the spectrum of variation and phenotype of DEE8.

7.
Chinese Journal of Internal Medicine ; (12): 1102-1113, 2023.
Article in Chinese | WPRIM | ID: wpr-994427

ABSTRACT

Objective:To investigate the clinical characteristics of patients with rheumatic diseases and abnormal liver function, as well as determine the proportion and severity of liver function abnormalities.Methods:Cross-sectional study. Data were collected from patients registered in the Chinese Rheumatism Date Center from 2011 to 2021. The rheumatic diseases analyzed in this study were rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjogren syndrome (SS), ankylosing spondylitis (AS), and gout. Patient data, including demographic characteristics [ such as age, sex, body mass index,(BMI), and smoking history], liver function test results [including alanine aminotransferase (ALT), aspartate aminotransferase, alkaline phosphatase(ALP), and total bilirubin], and use of anti-rheumatic immune drugs and liver-protective drugs, were collected and compared between groups with normal and abnormal liver functions. In addition, the proportions of abnormal liver function were compared between sex and age groups.Results:A total of 116 308 patients were included in this study, including 49 659 with RA, 17 597 with SLE, 9 039 with SS, 11 321 with AS, and 28 692 with gout. The lowest proportion of liver function abnormalities was observed in patients with RA[11.02% (5 470/49 659)], followed by those with SS[17.97% (1 624/9 039)] and AS [18.22% (2 063/11 321) ], whereas patients with SLE [21.14% (3 720/17 597) ] and gout [28.73% (8 242/28 692)] exhibited the highest proportion of these abnormalities. Elevated ALT, mostly classified as grade 1, was the most commonly noted liver function abnormality, whereas elevated ALP was the least common. Some patients who took liver-protective drugs had normal liver function, with the lowest percentage observed in patients with gout [7.45% (36/483) ] and ranging from 21.7% to 30.34% in patients with RA, SLE, SS, and AS. The proportion of liver function abnormalities was higher in males than in females for all disease types [RA: 13.8%(1 368/9 906) vs. 10.3%(4 102/39 753); SLE: 33.6% (479/1 424) vs. 20.0% (3 241/16 173); SS: 25.4%(111/437) vs. 17.6%(1 513/8 602); AS: 20.1%(1 629/8 119) vs. 13.6% (434/3 202); and gout: 29.3% (8 033/27 394) vs. 16.1% (209/1 298)]. In RA, SLE, and AS, the proportions of liver function abnormalities were similar across all age groups. In SS, the proportion of liver function abnormalities increased with age [<40 years: 14.9%(294/1 979); 40-59 years: 18.1%(858/4 741); ≥60 years: 20.4%(472/2 319)], whereas a reversal of this trend was observed in gout [<40 years: 34.9%(4 294/12 320); 40-59 years: 25.5%(2 905/11 398);≥60 years: 21.0%(1 042/4 971)].Conclusions:The proportions of combined liver function abnormalities in patients with rheumatologic diseases were high, and the utilization rates of liver-protective drugs were low. It is necessary to pay more attention to monitoring patients′ liver function, timely administer liver-protective drugs, and optimize liver-protective regimens during the treatment of rheumatic diseases.

8.
Chinese Journal of Rheumatology ; (12): 813-819,C12-1, 2022.
Article in Chinese | WPRIM | ID: wpr-992908

ABSTRACT

Objective:The effect of intermedin (IMD) on ATP-induced activation of inflammatory bodies and pyroptosis of cells and its mechanism were studied using lipopolysaccharide (LPS)-sensitized mouse macrophage line RAW 264.7.Methods:The cells were divided into the control groups, the LPS groups, LPS+IMD groups, and LPS+IMD+LY294002 groups. The expression of interleukin (IL)-1β and IL-18 and the activation of nucleotide-binding oligomerization domain-like receptor protein 3 (NLRP3) inflammatory cells were detected by real-time PCR and western blotting, and the pyroptosis of cells was detected by propidium iodide (PI) staining. The measurement data was represented by MS± SD, and the inter-group difference was compared with ANOVA calculations, and P<0.05 represented the difference with statistical significance. Results:Compared with the control group [(0.83±0.09) vs (0.49±0.04)], the ratio of phosphorylated phosphatidylinositol-3-kinase, p-PI3K)/phosphatidylinositol-3-kinase (PI3K) (0.44±0.05) and p-Akt/Akt (0.27±0.06) in the LPS group was significantly decreased. The ratios of p-PI3K/PI3K (1.22±0.18) and pAkt/Akt (0.83±0.09) in LPS+IMD group was significantly increased ( F=31.40, P<0.001; F=50.88, P<0.001). Compared with the control group, the mRNA and protein expressions of IL-1β, IL-18 and NLRP3 inflammasome (NLRP3, caspase-1, ASC) in RAW264.7 cells were up-regulated in the LPS group (LPS and ATP). Compared with LPS group, IMD treatment inhibited the expression of inflammatory cytokines IL-1β, IL-18 and NLRP3 inflammasome, which was blocked by LY294002, a blocker of PI3K/Akt pathway. The results of real-time PCR showed that the relative expression of IL-1β mRNA was (1.00±0.11) in the control group, (8.32±0.61) in the LPS group, (8.32±0.55) in the LPS+IMD group, and (7.23±0.41) in the LPS+IMD+LY group ( F=15.42, P<0.001). The relative expression of IL-18 mRNA in the control group was (1.00±0.17), (1.82±0.21) in the LPS group, (1.14±0.15) in the LPS+IMD group, and (1.53±0.11) in the LPS+IMD+LY group respectively ( F=18.16, P<0.001). The relative expression of NLRP3 mRNA in the control group was (1.00±0.13), (2.58±0.18) in the LPS group, (1.07±0.17) in the LPS+IMD group, and (1.33±0.32) in the LPS+IMD+LY group respectively ( F=15.98, P< 0.001); The relative expression of caspase-1 mRNA in the control group was (1.00±0.09), (6.20±0.19) in the LPS group, (3.43±0.06) in the LPS+IMD group, and (5.50±0.45) in the LPS+IMD+LY group respectively ( F=18.39, P<0.001). The relative expression of ASC mRNA in the control group was (1.00±0.21), (4.58±0.48) in the LPS group, (2.07±0.51) in the LPS+IMD group, and (3.33±0.32) in the LPS+IMD+LY group respectively ( F=15.19, P<0.001). Western blotting results showed that the relative expression of IL-1β protein was as follows: (100%) in the control group, [(188±14)%] in the LPS group, [(112±11)%] in the LPS+IMD group, and [(171±27)%] in the LPS+IMD+LY group respectively ( F=21.25, P<0.001). The relative expression of IL-18 protein in the control group was 100%, [(183±16)%] in the LPS group, [(115±19)%] in the LPS+IMD group, and [(179±23)%] in the LPS+IMD+LY group respectively ( F=19.62, P<0.001). The relative expression of NLRP3 protein was 100% in the control group, [(149±15)%] in the LPS group, [(106±10)%] in the LPS+IMD group, and [(144±15)%] in LPS+IMD+LY group respectively ( F=14.35, P<0.001). The relative expression of ASC protein was 100% in the control group, [(188±12)%] in the LPS group, [(110±18)%] in the LPS+IMD group, and [(192±8)%] in the LPS+IMD+LY group ( F=15.79, P<0.001). Conclusion:IMD inhibits the activation of NLRP3 inflammasome and cell pyroptosis by regulating PI3K/Akt activity.

9.
Chinese Journal of Experimental Ophthalmology ; (12): 548-555, 2022.
Article in Chinese | WPRIM | ID: wpr-931108

ABSTRACT

Objective:To characterize the distribution characteristics of choroidal thickness in healthy normal subjects and to define the diagnostic cut-off value for pachychoroid.Methods:A cross-sectional study design was carried out.Four hundred and forty-six eyes of 230 healthy subjects from the pachychoroid disease spectrum (PCD) cohort in Beijing Tongren Hospital from April 2018 to June 2021, were enrolled for the choroidal thickness distribution analysis.Three hundred and fourteen eyes of 274 patients with PCD including 149 eyes of 113 patients with central serous chorioretinopathy, 95 eyes of 81 patients with polypoid choroidal vasculopathy, 70 eyes of 60 patients with neovascular age-related macular degeneration, along with 382 eyes of 199 normal subjects matched for refractive error, age and gender with PCD were selected for likelihood ratio analysis.Routine eye examinations including the best corrected visual acuity, intraocular pressure, slit-lamp microscopy, dilated fundus examination and color fundus photography were performed in all subjects.Swept-source optical coherence tomography (SS-OCT) of 9 mm×9 mm scanning mode was used to measure the subfoveal choroidal thickness (SFCT) automatically in nine macular regions according to the Early Treatment Diabetic Retinopathy Study classification system using TOPCON Advanced Boundary Segmentation (TABS) software.Pearson linear correlation analysis and Spearman rank correlation analysis were adopted to evaluate the correlations between SFCT and age, diopter.Multiple linear regression was employed to analyze the factors affecting SFCT.After age and refractive error adjustment, the likelihood ratio test was used to determine the diagnostic cut-off value for pachychoroid.This study adhered to the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of Beijing Tongren Hospital (No.TRECKY2016-054). Written informed consent was obtained from each subject prior to entering the cohort.Results:A negative correlation was found between SFCT and age in normal eyes ( r=-0.34, P<0.001), in both normal male and female subjects ( r=-0.43, P<0.001; r=-0.38; P<0.001). A weak positive correlation was found between SFCT and diopter ( rs=0.19, P<0.001). It was found that age and diopter were strongly correlated with SFCT (both at P<0.001). The cut-off values for pachychoroid in 20-39 years group, 40-59 years group, 60-79 years group and ≥80 years group were 320-330 μm, 330-340 μm, 250-275 μm and 200-225 μm, respectively.The percentages of eyes with pachychoroid in 20-39 years group, 40-59 years group and ≥60 years group were 14.71%(10/68), 24.48%(47/192) and 28.89%(55/184), respectively, showing statistically significant differences among them ( χ2=6.170, P=0.046; LR=6.579, P=0.037). The proportion of pachychoroid in ≥60 years group was significantly higher than that of 20-39 years group, showing a statistically significant difference ( χ2=5.982, P=0.014; LR=6.479, P=0.011). Conclusions:The distribution characteristics of pachychoroid vary in normal subjects over age.Age and diopter are the independent influencing factors of SFCT.

10.
Chinese Journal of Medical Genetics ; (6): 488-493, 2022.
Article in Chinese | WPRIM | ID: wpr-928443

ABSTRACT

OBJECTIVE@#To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.@*METHODS@#Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene.@*RESULTS@#Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.


Subject(s)
Female , Humans , Male , Craniosynostoses , Genetic Testing , Intellectual Disability/genetics , Methyl-CpG-Binding Protein 2/genetics , Mutation , Phenotype , Rett Syndrome/genetics
11.
Chinese Journal of Medical Genetics ; (6): 26-30, 2022.
Article in Chinese | WPRIM | ID: wpr-928354

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics and pathogenic gene in a Chinese pedigree affected with mitochondrial DNA depletion syndrome 8A (MTDPS8A).@*METHODS@#Whole exome sequencing was carried out for the patient. Sanger sequencing was used to verify the results, and PolyPhen-2 and PROVEAN software were used to predict the impact of amino acid changes on the function of the protein.@*RESULTS@#The patient, a two-month-old female, was admitted to the hospital for poor milk intake and poor mental response. Her clinical manifestations included feeding difficulty, shortness of breath and low muscle tone. Auxiliary laboratory test indicated that the infant was underdeveloped with abnormal liver, kidney, and heart functions accompanied by hyperlacticacidemia. She responded poorly to treatment and eventually died. Sequencing revealed that the child has carried compound heterozygous missense variants of the RRM2B gene, namely c.16delA (p.R6Gfs*22) and c.175G>C (p.A59P), which were respectively inherited from her father and mother, and both were newly discovered pathologic variants.@*CONCLUSION@#The c.16delA and c.175G>C compound heterozygous variants of the RRM2B gene probably underlay the pathogenesis of MTDPS8A. Above finding has strengthened the understanding of the clinical feature and genetic etiology of this disease and expanded the mutation spectrum of the RRM2B gene.


Subject(s)
Child , Female , Humans , Infant , Cell Cycle Proteins , China , DNA, Mitochondrial/genetics , Genetic Testing , Mutation , Pedigree , Ribonucleotide Reductases , Exome Sequencing
12.
Chinese Journal of Internal Medicine ; (12): 779-784, 2022.
Article in Chinese | WPRIM | ID: wpr-957651

ABSTRACT

Objective:To investigate the relationship between psoriasis severity and clinical features in psoriatic arthritis (PsA).Methods:Patients were recruited from the Chinese REgistry of Psoriatic ARthritis (CREPAR) between December 2018 and June 2021, and data were collected including the baseline demographic characteristics, various clinical manifestations (including arthritis, nail disease, comorbidities), laboratory tests[including erythrocyte sedimentation rate(ESR), C-reactive protein (CRP)], health assessment questionnaire (HAQ). Body surface area (BSA) and psoriasis area and severity index (PASI) were selected for the tools of assessment of cutaneous psoriasis. Patients were divided to two groups, including the severe psoriasis group (BSA>10%) and the non-severe psoriasis group (BSA≤10%). Disease assessment included ankylosing spondylitis disease activity score (ASDAS), disease activity score 28 (DAS28) and disease activity in psoriatic arthritis (DAPSA).Results:1 074 eligible patients with PsA were recruited, and 106 (9.9%) had severe psoriasis. Compared with non-severe psoriasis group, the severe psoriasis group had more peripheral joint involvement (including patients with ever or current peripheral arthritis, 94.3% vs. 85.6%), more polyarticular joint involvement (including patients with current peripheral arthritis, 74.0% vs. 58.2%), more axial joint involvement (51.4% vs. 39.9%), more nail disease (72.6% vs. 61.4%), more frequency of smoking (20.2% vs. 18.7%), and higher proportion of hypertension (23.4% vs. 14.4%). In addition, the severe psoriasis group had higher level of ESR [33(10, 70) mm/1h vs. 20(9, 38) mm/1h] and CRP [18.6(5.0, 60.8) mg/L vs. 7.0(2.4, 18.1) mg/L], higher values of DAS28-ESR (4.5±1.7 vs. 3.7±1.5), DAS28-CRP (4.2±1.5 vs. 3.4±1.4), ASDAS-ESR (3.5±1.4 vs. 2.6±1.2), and ASDAS-CRP(3.4±1.6 vs. 2.5±1.2), higher scores of HAQ [0.6(0.1, 1.0) vs. 0.3(0.0, 0.8)].Conclusion:Patients with PsA with severe psoriasis bore a heavier disease burden. Therefore, clinicians were supposed to pay more attention to them. In addition to skin lesions, they should also focus on examination of other clinical manifestations, such as joints and nails.

13.
Chinese Journal of Postgraduates of Medicine ; (36): 1142-1146, 2022.
Article in Chinese | WPRIM | ID: wpr-990956

ABSTRACT

Objective:To investigate the application of ultrasound thyroid imaging report and data system (TI-RADS) score, serum galectin-3, microRNA (miR) -599 in cervical lymph node metastasis of papillary thyroid carcinoma (PTC).Methods:A total of 98 patients with PTC admitted to China Resources Medical Huaibei Miners General Hospital from March 2019 to March 2021 were selected and divided into the metastasis group (48 cases) and the non-metastasis group (50 cases) according to the state of cervical lymph node metastasis dignosedby the pathological examination. The baseline data, ultrasound TI-RADS score, serum galectin-3, miR-599 were compared between the two groups. Multivariate Logistic regression analysis was used to analyze the related factors of cervical lymph node metastasis, receiver operating characteristic (ROC) curve and the area under curve (AUC) were used to analyze the value ofpredicting cervical lymph node metastasis.Results:The ultrasound TI-RADS scores and galectin-3 level in the metastasis group were higher than those in the non-metastasis group: (11.72 ± 2.85) scores vs. (8.15 ± 2.60) scores, (5.54 ± 1.76) μg/L vs. (4.02 ± 1.27) μg/L, the miR-599 level in the metastasis group was lower than that in the non-metastasis group: 0.25 ± 0.08 vs. 0.36 ± 0.10, there were statistical differences ( P<0.05). The results of multivariate Logistic regression analysis showed that the ultrasound TI-RADS score, serum galectin-3 and miR-599 were still associated with cervical lymph node metastasis in PTC patients after controlling the clinical stage ( P<0.05). The results of ROC curve analysis showed that the AUC for ultrasound TI-RADS score, serum galectin-3 combined with miR-599 in evaluating cervical lymph node metastasis was the largest (0.889). The metastasis rate of patients with high levels of ultrasound TI-RADS and serum galectin-3 were higher than those with low levels, and the metastasis rate of patients with high level of miR-599 was lower than that of patients with low level , there were statistical differences ( P<0.05). Conclusions:Ultrasound TI-RADS score, serumgalectin-3, miR-599 are related to cervical lymph node metastasis in PTC patients, and combined detection is expected to become a scheme for evaluating cervical lymph node metastasis.

14.
International Journal of Cerebrovascular Diseases ; (12): 766-770, 2022.
Article in Chinese | WPRIM | ID: wpr-989152

ABSTRACT

Intracranial atherosclerotic stenosis (ICAS) is one of the most common causes of ischemic cerebrovascular disease. Compared with other causes such as extracranial diseases or cardiogenic embolism, symptomatic ICAS (sICAS) has a higher risk of stroke recurrence, often leading to the aggravation of neurological impairment and even death. More and more evidence shows that imaging features play an important role in predicting the risk of stroke recurrence and individualized secondary prevention in patients with sICAS. This article reviews the imaging features of ischemic stroke recurrence in patients with sICAS, which provides a basis for identifying sICAS patients with high risk of recurrent stroke and effective secondary prevention.

15.
International Journal of Traditional Chinese Medicine ; (6): 1408-1414, 2022.
Article in Chinese | WPRIM | ID: wpr-954472

ABSTRACT

Objective:To establish a method of measuring the contents of gallic acid, brevifolin, corilagin, geraniin, ellagic acid and rutin in Phyllanthus urinaria L. simultaneously with fingerprint study for analysis. Methods:Phyllanthus urinaria L. was extracted by ultrasound with 50% methanol. Chromatographic separation was performed on a Phenonmenex Luna C18 (4.6 mm×250 mm, 5 μm). The mobile phase consisted of acetonitrile (A) and 0.1% phosphoric acid aqueous solution (B) with gradient elution. The flow rate was 1.0 ml/min. The column temperature was 25 ℃, and the injection volume was 10 μl. The detection wavelength was 270 nm. HPLC fingerprints of Phyllanthus urinaria L. from different habitats was established. PCA and OPLS-DA were used to analyze the differences in chemical components of different habitats. Results:Gallic acid, brevifolin, corilagin, geraniin, ellagic acid and rutin showed good linearity at 0.042 8-0.641 6, 0.033 4-0.501 4, 0.142 2-2.133 1, 0.383 1-5.746 5, 0.063 1-0.946 2 and 0.019 2-0.287 8 μg, respectively. The average recovery rate of them was 103.65%, 96.39%, 101.85%, 95.04%, 98.79% and 98.33%, respectively. The HPLC fingerprints of different habitats contained 14 characteristic common peaks, and six compounds characteristic peaks were identified. PCA analysis showed that the chemical components of Phyllanthus urinaria L. from different habitats were different. Geraniin, ellagic acid and corilagin were screened by OPLS-DA. Conclusions:The method is efficient, accurate and sensitive, which can be used to measure the six components in Phyllanthus urinaria L.. The established HPLC fingerprint of different habitats combined with the measrurement method of six components can be used for the quality control and evaluation of Phyllanthus urinaria L..

16.
International Journal of Traditional Chinese Medicine ; (6): 1358-1364, 2022.
Article in Chinese | WPRIM | ID: wpr-954467

ABSTRACT

Objective:To observe the clinical effects of Traditional Chinese Medicine (TCM) Tangnaikang granules, supplementing to conventional treatment methods, on type 2 diabetic foot ulcer.Methods:A total of 67 patients, from Beijing University of Chinese Medicine subsidiary Dongfang Hospital, Tuanjie Lake Community Health Service Center, Qingta Community Health Service Center between August, 2019 and November, 2020 were assigned to treatment group (37 patients) and control group (30 patients) using sealed envelope randomization method. The control group underwent conventional treatment methods that manage blood sugar and treat infections. The treatment group received, in addition to the conventional treatment methods administered to the control group, Tangnaikang granules. Both groups were continuously treated for 90 days. The TCM symptom scores, granulation tissue scores, visual analogue scale (VAS), itching scores and Generic Quality of Life Inventory-74 (GQOL-74) score, wound area were observed pre- and post-treatment. The ELISA kits were used to detect the Vascular Endothelial Growth Factor (VEGF), Epidermal Growth Factor (EGF), Basic Fibroblast Growth Factor (bFGF), fasting blood glucose level, glycated hemoglobin test (HbA1c), fasting insulin level, postprandial 2 hour insulin level, insulin resistance index. And all possible adverse events were noted. The overall clinical treatment effects and TCM symptom treatment effects were assessed.Results:Total effective rate for the treatment group 89.2% (33/37), was significantly different from that of the control group 70.0% (21/30) with χ2=3.90 and P<0.01. The TCM symptom effective rate was 86.5% (32/37) for the treatment group and 63.3% (19/30) for the control group. The difference was statistically different with χ2=4.88 and P<0.01. After treatment, whole blood viscosity, plasma viscosity, fibrinogen and erythrocyte sedimentation rate (ESR) of the treatment group were significantly improved than those of the control group ( t=-23.38, -8.01, 18.10, -18.93,all Ps<0.01). The ulcer closure area (5.43±1.65 cm 2vs. 4.65±1.14 cm 2, t=2.20) and ulcer closure area percentage (59.14%±3.37% vs. 42.42%±3.21%, t=20.63) were statistically different of both groups ( P<0.05 or P<0.01). The VEGF, EGF, and bFGF at 90 day of the treatment group were significantly higher than those of the control group ( t=3.19, 40.59, 28.53, all Ps<0.01). The post-treatment fasting blood glucose level, insulin resistance index of the treatment group were significantly lower than those of the control group ( t=-8.55, -21.38, all Ps<0.01). TCM symptoms of thirsty, feverish sensation in chest, palms and soles in the treatment group were significantly improved than the control group ( χ2=4.38, 4.48, all Ps<0.01). Conclusion:TCM compound Tangnaikang granules can relieve diabetic foot ulcer, reduce wound healing time and improve overall treatment outcome, when it was combined of the conventional treatment.

17.
International Journal of Cerebrovascular Diseases ; (12): 561-568, 2022.
Article in Chinese | WPRIM | ID: wpr-954171

ABSTRACT

Objective:To investigate the efficacy and safety of endovascular treatment (EVT) in patients with acute ischemic stroke due to acute primary medium vessel occlusion (MeVO).Methods:Patients with primary MeVO received EVT in the stroke center of Jining First People's Hospital from January 2019 to January 2022 were enrolled retrospectively. MeVO was defined as occlusion of M2/M3 segment of middle cerebral artery, A2/A3 segment of anterior cerebral artery and P2/P3 segment of posterior cerebral artery. The symptoms, vascular recanalization and surgical complications were documented. The National Institutes of Health Stroke Scale (NIHSS) score at discharge and the modified Rankin Scale (mRS) score at 90 d after onset were followed up.Results:A total of 17 patients with primary MeVO were included, among them 16 successfully achieved vascular recanalization, 1 had distal emboli escape, and 1 had asymptomatic intracranial hemorrhage. There was significant difference in NIHSS scores before and after thrombectomy ( P<0.01). Ten patients (62.5%) had good functional outcome (mRS score 0-2), and 1 died of secondary pulmonary infection at 20 d after procedure. Conclusion:After strict risk/benefit evaluation and screening, EVT of acute ischemic stroke due to primary MeVO was technically feasible, and had good efficacy and safety.

18.
Chinese Journal of Nephrology ; (12): 758-764, 2021.
Article in Chinese | WPRIM | ID: wpr-911899

ABSTRACT

Objective:To explore the mechanism of highly expressed primary cilia in tibial growth plate chondrocytes accelerating chondrocytes differentiation in young rats with chronic renal failure (CRF).Methods:Forty male 4-week-old SD rats weighing (98±3) g were randomly divided into control group (intragastric administration with distilled water, n=20) and CRF group (intragastric administration with adenine suspension 150 mg·kg -1·d -1, n=20). All the young rats were sacrificed after continuous gavage for 6 weeks. The length of the growth plate was measured with histological sections. Immunofluorescence (IF) was used to detect the expression rate of primary cilia and the level of β-catenin, the key protein of Wnt/β-catenin signaling pathway in tibial growth plate chondrocytes. Chondrocytes isolated from growth plate in two groups were cultured in vitro to P3 generation, and the expression rate of primary cilia in chondrocytes, the levels of Indian hedgehog (IHH) and glycogen synthase kinase 3β (GSK3β) were detected by IF. Co-immunoprecipitation was used to detect the relationship between IHH and GSK3β. Results:Compared with the control group, the relative length of the growth plate was shorter in histological sections [(0.51±0.11) vs (1.00±0.08), t=16.11, P<0.001], the expression rate of primary cilia was higher [(26.3±5.5)% vs (7.6±1.9)%, t=14.37, P<0.001], and the level of β-catenin increased [(7.1±2.0) scores vs (3.6±1.0) scores, t=7.10, P<0.001] in CRF group. In vitro, the expression rate of primary cilia was higher in CRF group chondrocytes [(31.4±8.2)% vs (12.5±3.1)%, t=9.64, P<0.001] than that in control group. The level of IHH in CRF group increased than that in control group [(1 360±270) vs (310±84), t=16.61, P<0.001]. There was no significant difference in GSK3β level of chondrocytes between the two groups [(850±195) vs (780±140), t=1.30, P=0.200]. There was a direct interaction between IHH and GSK3β in CRF group chondrocytes. Conclusions:The expression levels of primary cilia and related protein IHH increase in tibial growth plate chondrocytes of CRF young rats. The IHH protein plays a direct interaction with GSK3β protein, Wnt/β-catenin signaling pathway antagonist, which leads to the activation of Wnt/β-catenin signaling pathway and final accelerated differentiation of chondrocytes. The rapid differentiation of chondrocytes causes the closing trend of growth plate.

19.
Chinese Journal of Clinical Nutrition ; (6): 8-13, 2021.
Article in Chinese | WPRIM | ID: wpr-909318

ABSTRACT

Objective:To explore the relationship between frailty and nutritional status of the elderly in communities.Method:Using the convenience sampling method, 458 elderly people in the community were investigated with the general data questionnaire, frailty phenotype, Mini-Nutritional Assessment, Mini-Mental State Examination, Self-Rating Depression Scale and Instrumental Activity of Daily Living.Results:The prevalence of frailty, pre-frailty and non-frailty in the elderly of the community was 9.2%, 60.0%, and 30.8% respectively, and 10.5% were malnourished or at risk of malnutrition. Logistic analysis showed that malnutrition increased the risk of frailty in the elderly ( OR=9.534, P=0.001). Conclusion:Malnutrition is a risk factor of frailty in the elderly in communities. Improving the nutritional status of the elderly in communities can help delay the development of frailty.

20.
Chinese Journal of Clinical Pharmacology and Therapeutics ; (12): 1081-1087, 2020.
Article in Chinese | WPRIM | ID: wpr-855756

ABSTRACT

AIM: To investigate the effects of manganese superoxide dismutase mimic (MnSODm) on 2, 4, 6-trinitrobenzene sulfonic acid (TNBS) induced ulcerative colitis (UC) in rats and to probe into its underlying mechanism. METHODS: Wistar rats were randomly divided into blank group, model group, sulfasalazine (SASP, 500 mg/kg) group, and different doses of MnSODm (10, 20 and 40 mg/kg) groups. Ulcerative colitis was induced in rats by rectal administration of 100 mg/kg TNBS dissolved in 50% ethanol. Rats were killed after SASP and different doses of MnSODm treatment 7 days. The disease activity index (DAI) was recorded, and then the colonic injury and inflammation were assessed by the colon weight/length ratio and microscopic damage scores. The serum and colon tissues activities myeloperoxidase (MPO) were detected by biochemistry method. The activities of glutathione peroxidase (GSH-Px), inducible nitric oxide synthase (iNOS), and the levels of glutathione (GSH) and NO in colon tissues were also detected. The levels of TNF-α, IL-4 and IL-10 in the colon tissues were measure by ELISA. Western blot was undertaken to determine the phosphorylation levels of AKT and PI3K. RESULTS: Compared with the model group, the colonic weight/length ratios, microscopic damage scores and colon tissues and serum MPO activity were significantly decreased in MnSODm groups (P<0.05 or P<0.01). INOS, NO, TNF-α, PI3K, p-AKT levels in colon tissues were also significantly decreased in MnSODm treatment groups; while the activity of GSH-Px and the concentration of GSH, IL-4 and IL-10 obviously increased (P<0.05, P<0.01). CONCLUSION: MnSODm is protective against colitis via antioxidant activity and by inhibiting inflammatory mediators and then down-regulating PI3K/AKT signaling pathways.

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