Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

Objective To evaluate the clinical efficacy of Shengqing Jiangzhuo(lifting lucid yang and lowering turbid yin)Acupuncture Method,based on the"turbidity-clearness interaction"theory,combined with western medicine in treating gouty nephropathy(GN)patients with damp-heat accumulation syndrome.Methods A total of 117 patients diagnosed with GN from September 2023 to September 2024 at the First Affiliated Hospital of Guangzhou University of Chinese Medicine Chongqing Hospital were enrolled and randomly divided into three groups,with 39 cases in each group.The western medicine group received Febuxostat Tablets,the control group was given western medicine+conventional acupuncture,and observation group was given western medicine+Shengqing Jiangzhuo Acupuncture Method.All groups received 4 weeks of treatment.Clinical efficacy,traditional Chinese medicine(TCM)syndrome scores,visual analogue scale(VAS)of pain scores,and laboratory parameters—including serum uric acid(UA),blood urea nitrogen(BUN),creatinine(Scr),estimated glomerular filtration rate(eGFR),β2-microglobulin(β2-MG),24-hour urinary protein(24h-UTP),cystatin C(CysC)were assessed.The erythrocyte sedimentation rate(ESR),and C-reactive protein(CRP)were compared before and after treatment.Results(1)The total effective rate was 71.79%(28/39)in the western medicine group,84.62%(33/39)in the control group,and 92.31%(36/39)in the observation group.The observation group demonstrated statistically significant superiority over the western medicine group(P＜0.05),while showing marginally better efficacy than the control group without statistical significance(P＞0.05).(2)After treatment,all three groups exhibited significant improvements in ESR,CRP,and UA levels(P＜0.05).The observation group significantly outperformed the other two groups in reducing ESR and CRP levels(P＜0.05),and was statistically superior to the western medicine group in lowering UA levels(P＜0.05),though no significant difference was observed versus the control group for UA improvement(P＞0.05).The control group showed significantly greater reductions in ESR,CRP,and UA levels than the western medicine group(P＜0.05).(3)After treatment,Scr,BUN,and eGFR levels were significantly improved in all groups(P＜0.05).The observation group achieved significantly better improvements in Scr and eGFR than the other two groups(P＜0.05).However,no statistical difference existed between the control and western medicine groups for Scr or eGFR enhancement(P＞0.05).No intergroup differences were detected in BUN improvement(P＞0.05).(4)Significant differences emerged in β2-MG and CysC levels among all groups after treatment(P＜0.05).Both observation and control groups demonstrated statistically significant improvements in 24-hour 24h-UTP(P＜0.05),whereas the western medicine group showed no significant change(P＞0.05).The observation group significantly outperformed the other groups in reducing 24h-UTP and β2-MG levels(P＜0.05),and was superior to the western medicine group in lowering CysC(P＜0.05),though no difference versus the control group was observed for CysC reduction(P＞0.05).The control group showed no statistical advantage over the western medicine group in improving 24h-UTP,β 2-MG,or CysC(P＞0.05).(5)After treatment,TCM syndrome scores and VAS scores were significantly improved in all groups(P＜0.05).The observation group achieved significantly greater reductions in TCM syndrome scores and VAS scores than the western medicine group(P＜0.05).The control group showed statistically superior VAS score improvement versus the western medicine group(P＜0.05),but no significant differences emerged in TCM syndrome score improvement compared to either group(P＞0.05).No statistical difference existed between observation and control groups for VAS score reduction(P＞0.05).Conclusion Shengqing Jiangzhuo Acupuncture Method,grounded in the"turbidity-clearness interaction"theory,effectively reduces serum UA,controls inflammation,and preserves renal function in damp-heat accumulation type of GN,demonstrating significant therapeutic benefits.

Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

Objective To express the monkeypox virus (MPXV) A23R protein in Escherichia coli and purify by Ni-NTA affinity column, and to prepare mouse antiserum against MPXV A23R. Methods The recombinant plasmid pET-28a-MPXV-A23R was constructed and transformed into Escherichia coli BL21 to induce the expression of A23R protein. After optimizing the conditions of expression, A23R protein was highly expressed. Recombinant A23R protein was purified by Ni-NTA affinity column and identified by Western blot analysis. The purified protein was used to immunize mice for preparing the A23R polyclonal antibody, and the antibody titer was detected by ELISA. Results The expression of A23R recombinant protein reached the peak under the induced conditions of 0.6 mmol/L isopropyl-β-D-thiogalactoside (IPTG), 37 DegreesCelsius and 20 hours. The purity of the protein was about 96.07% and was identified by Western blot analysis. The mice were immunized with recombinant protein, and the titer of antibody reached 1:102 400 at the 6th week after immunization. Conclusion MPXV A23R is expressed highly and purified with a high purity and its antiserum from mouse is obtained with a high titre.
Animals ; Mice ; Monkeypox virus ; Antibodies ; Enzyme-Linked Immunosorbent Assay ; Blotting, Western ; Recombinant Proteins ; Escherichia coli/genetics*

The ketogenic diet, a non-pharmacotherapy, simulates the state of fasting to induce the liver to metabolize fatty acids into ketones as fuel source. It also possesses anti-inflammatory effects and impacts the occurrence and progression of various diseases among which is polycystic ovary syndrome(PCOS). Ketogenic diet effectively manages body weight, improves ovarian function, regulates metabolic disorder, and enhances mental health. The growing body of evidence substantiates the safety and efficacy profile.

Hepatic ischemia-reperfusion injury (HIRI) is a very common complication of liver transplantation, liver resection, and shock. At present, many studies have been conducted on HIRI, but there is still a lack of drugs for radical treatment in clinical practice. Many factors, such as related cells, molecular mechanisms and signaling pathways, reactive oxygen species and oxidative stress response, nitric oxide, and mitochondria, mediate the development and progression of HIRI, which leads to the decline of patients' quality of life and even endangers their life safety. Based on the pathogenesis of HIRI and related articles, this article summarizes the research advances in the prevention and treatment of HIRI with traditional Chinese medicine components, so as to provide theoretical support for basic research and clinical research on HIRI.

Objective:The clinical characteristics of patients with primary central nervous system lymphoma-diffuse large B-cell lymphoma (PCNSL-DLBCL) and the effects of different treatment schemes on their survival and prognosis were analyzed retrospectively.Methods:A total of 49 patients with PCNSL-DLBCL who presented at the Tianjin Medical University General Hospital from July 2014 to December 2020 were included, and their clinical data were retrospectively analyzed. They were divided into four groups: the MTX group, the R-CDOP group, the BTKi-R-MTX group, and the RLZT group. The median overall survival (OS) and progression-free survival (PFS) were calculated, and the survival prognosis was compared by univariate and multivariate prognostic analysis.Results:The median OS time of the MTX group, the R-CDOP group, the BTKi-R-MTX group, and the RLZT group was 16.5 months, 4.5 months, 42 months, and not reached, respectively ( P<0.001) . The median PFS time of the MTX group, the R-CDOP group, the BTKi-R-MTX group, and the RLZT group was 7 months, 1.5 months, 20 months, and 5 months, respectively ( P=0.005) . Multivariate prognostic analysis showed that double expressor lymphoma, IESLG risk grade, and different treatment methods were the prognostic factors of PCNSL-DLBCL. Conclusion:The survival and prognosis of PCNSL-DLBCL are affected by different treatment schemes. The role of CD20 monoclonal antibody in the treatment of PCNSL-DLBCL is still controversial. The treatment scheme containing BTKi has great potential for PCNSL-DLBCL. RLZT scheme has a good prospect for elderly patients who cannot tolerate high-dose chemotherapy and radiotherapy.

Objective: To investigate the incidence rate and related factors of depression in patients with chronic obstructive pulmonary disease(COPD). Methods: From February 2016 to November 2016, 261 COPD patients in Wenzhou Central Hospital were collected by cluster sampling method.The patients' medical history, classification of lung function, score of Self-Rating Depression Scale(SDS) and COPD assessment test(CAT) were recorded in order to investigate the incidence rate and related factors of depression. Results: The incidence of depression in COPD patients was 42.53%.Spearman's correlation showed that the factors related to depression including without spouse, smoking, duration of COPD and classification of lung function(r=0.282, 0.188, 0.201, 0.192, all P<0.01). Non-conditional logistic regression analysis revealed that without spouse and smoking were independent risk factors of depression in COPD patients(OR=0.208, 95% CI 0.093~0.469; OR=2.029, 95% CI 1.054~3.906; all P<0.05). Conclusion COPD patients have high prevalence of depression.The occurrence of depression in COPD patients is related to lack of family support, poor living habits, chronic disease and severe pulmonary function, especially without spouse and smoking are related to depression among COPD patients.

Objective: To explore characteristic and function of peripheral blood mononuclear cells (PBMNC) -induced macrophages in patients with myelodysplastic syndrome (MDS) to couple with its progression. Methods: A total of 24 MDS patients (11 low-risk patients and 13 high-risk group patients) referred to Department of Hematology of Tianjin Medical University General Hospital and normal controls were enrolled from September 2014 to December 2015. PBMNC was stimulated with GM-CSF to transform to macrophages. The morphology of macrophages was observed by microscope. The quantity of macrophages, CD206 and SIRPα on surface of macrophages were detected by flow cytometry. The phagocytic function of macrophages was analyzed by fluorescence microscopy and flow cytometry. Results: The morphology of macrophages from MDS patients was abnormal. The percentage of transformed macrophages was (5.17±3.47) % in patients with MDS, which was lower than that in controls significantly[ (66.18±13.43) %, t=3.529, P=0.001]. The expression of CD206 on macrophages from MDS patients was significantly lower than that of controls[ (9.73±2.59) % vs (51.15±10.82) %, t=4.551, P<0.001]. The SIRPα level of macrophages from MDS patients was significantly lower than that of controls [ (0.51±0.09) % vs (0.77±0.06) %, t=2.102, P=0.043]. The phagocytic index and the percentage of phagocytic of macrophages from MDS patients were significantly lower than those of macrophages from normal controls[0.45±0.08 vs 0.92±0.07, t=-6.253, P=0.008; (23.69±3.22) % vs (42.75±2.13) %, t=-6.982, P=0.006 respectively]by flow cytometry. The phagocytic index of MDS patients was significantly lower than that of controls (0.24±0.04 vs 0.48±0.96, t=3.464, P=0.001) by fluorescence microscopy. Conclusion The quantity, recognization receptors and phagocytosis of PBMNC-induced macrophages decreased in MDS patients.