1.A Case Report of Pachydermoperiostosis by Multidisciplinary Diagnosis and Treatment
Jie ZHANG ; Yan ZHANG ; Li HUO ; Ke LYU ; Tao WANG ; Ze'nan XIA ; Xiao LONG ; Kexin XU ; Nan WU ; Bo YANG ; Weibo XIA ; Rongrong HU ; Limeng CHEN ; Ji LI ; Xia HONG ; Yan ZHANG ; Yagang ZUO
JOURNAL OF RARE DISEASES 2025;4(1):75-82
A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in
2.Study on the potential allergen and mechanism of pseudo-allergic reactions induced by combined using of Reduning injection and penicillin G injection based on metabolomics and bioinformatics
Yu-long CHEN ; You ZHAI ; Xiao-yan WANG ; Wei-xia LI ; Hui ZHANG ; Ya-li WU ; Liu-qing YANG ; Xiao-fei CHEN ; Shu-qi ZHANG ; Lu NIU ; Ke-ran FENG ; Kun LI ; Jin-fa TANG ; Ming-liang ZHANG
Acta Pharmaceutica Sinica 2024;59(2):382-394
Based on the strategy of metabolomics combined with bioinformatics, this study analyzed the potential allergens and mechanism of pseudo-allergic reactions (PARs) induced by the combined use of Reduning injection and penicillin G injection. All animal experiments and welfare are in accordance with the requirements of the First Affiliated Experimental Animal Ethics and Animal Welfare Committee of Henan University of Chinese Medicine (approval number: YFYDW2020002). Based on UPLC-Q-TOF/MS technology combined with UNIFI software, a total of 21 compounds were identified in Reduning and penicillin G mixed injection. Based on molecular docking technology, 10 potential allergens with strong binding activity to MrgprX2 agonist sites were further screened. Metabolomics analysis using UPLC-Q-TOF/MS technology revealed that 34 differential metabolites such as arachidonic acid, phosphatidylcholine, phosphatidylserine, prostaglandins, and leukotrienes were endogenous differential metabolites of PARs caused by combined use of Reduning injection and penicillin G injection. Through the analysis of the "potential allergen-target-endogenous differential metabolite" interaction network, the chlorogenic acids (such as chlorogenic acid, neochlorogenic acid, cryptochlorogenic acid, and isochlorogenic acid A) and
3.Arterial embolization combined with local ablation for the treatment of recurrent and refractory chest wall tumors
Quanjun YAO ; Hongtao HU ; Hailiang LI ; Chenyang GUO ; Ke ZHAO ; Yanan ZHAO ; Weili XIA ; Yanan LI
Journal of Interventional Radiology 2024;33(2):135-139
Objective To discuss the safety and efficacy of arterial embolization combined with local ablation in the treatment of recurrent and refractory chest wall tumors.Methods The clinical data of 11 patients with chest wall tumor that recurred after surgery and progressed after treatment were retrospectively analyzed.On the basis of the original treatment regimen,DSA-guided arterial embolization and CT-guided local ablation were employed.VAS score of pain relief and postoperative complications were recorded,and the therapeutic efficacy was evaluated Results All the patients were follow up for a median time of 18.5 months.Successful DSA-guided arterial embolization was accomplished in all patients.Seven patients(9 lesions in total)initially received CT-guided radiofrequency ablation(RFA),and tumor reoccurred in 2 patients,who had to receive RFA once more.Four patients(5 lesions in total)initially received CT-guided microwave ablation(MWA),and tumor reoccurred in one patient,who had to receive MWA again.According to mRECIST criteria,the 6-month,12-month and 18-month objective response rates(ORR)were 72.7%(8/11),45.5%(5/11)and 18.2%(2/11)respectively,the 6-month,12-month and 18-month overall survival rates were 81.8%(9/11),63.6%(7/11)and 27.3%(3/11)respectively,with a median survival time of 13.2 months.The postoperative one-month and 3-month VAS scores were(2.42±1.25)points and(1.91±1.24)points respectively,which were strikingly lower than preoperative(6.78±1.13)points,the differences were statistically significant(P<0.05).After surgery,3 patients developed pleural effusion,which disappeared after puncture and drainage treatment,and 2 patients developed fever,which was improved after symptomatic treatment.One patient died of respiratory failure six months after treatment.Conclusion Arterial embolization combined with local ablation can improve the symptoms of pain and prolong the survival time of patients with chest wall tumors.This combination therapy is less traumatic and clinically safe,and it can be used as an effective treatment for patients with recurrent and refractory chest wall tumors.
4.Exploring the risk "time interval window" of sequential medication of Reduning injection and penicillin G injection based on the correlation between biochemical indexes and metabolomics characteristics
Ming-liang ZHANG ; Yu-long CHEN ; Xiao-yan WANG ; Xiao-fei CHEN ; Hui ZHANG ; Ya-li WU ; Liu-qing YANG ; Shu-qi ZHANG ; Lu NIU ; Ke-ran FENG ; Wei-xia LI ; Jin-fa TANG
Acta Pharmaceutica Sinica 2024;59(7):2098-2107
Exploring the risk "time interval window" of sequential medication of Reduning injection (RDN) and penicillin G injection (PG) by detecting the correlation between serum biochemical indexes and plasma metabonomic characteristics, in order to reduce the risk of adverse reactions caused by the combination of RDN and PG. All animal experiments and welfare are in accordance with the requirements of the First Affiliated Experimental Animal Ethics and Animal Welfare Committee of Henan University of Chinese Medicine (approval number: YFYDW2020002). The changes of biochemical indexes in serum of rats were detected by enzyme-linked immunosorbent assay. It was determined that RDN combined with PG could cause pseudo-allergic reactions (PARs) activated by complement pathway. Further investigation was carried out at different time intervals (1.5, 2, 3.5, 4, 6, and 8 h PG+RDN). It was found that sequential administration within 3.5 h could cause significant PARs. However, PARs were significantly reduced after administration interval of more than 4 h. LC-MS was used for plasma metabolomics analysis, and the levels of serum biochemical indicators and plasma metabolic profile characteristics were compared in parallel. 22 differential metabolites showed similar or opposite trends to biochemical indicators before and after 3.5 h. And enriched to 10 PARs-related pathways such as arachidonic acid metabolism, steroid hormone biosynthesis, linoleic acid metabolism, glycerophospholipid metabolism, and tryptophan metabolism. In conclusion, there is a risk "time interval window" phenomenon in the adverse drug reactions caused by the sequential use of RDN and PG, and the interval medication after the "time interval window" can significantly reduce the risk of adverse reactions.
5.Study on the material basis and molecular mechanism of Rhei Radix et Rhizoma-Persicae Semen combination in activating blood circulation and dispelling blood stasis based on efficacy experiments, network pharmacology and HPLC
Lin ZHU ; Ying LIU ; Jie SHEN ; Bo-rui LI ; Ke-xin YUE ; Xia SHEN ; Fan PING
Acta Pharmaceutica Sinica 2024;59(7):2126-2134
In this study, the effective substance group and molecular mechanism of Rhei Radix et Rhizoma-Persicae Semen combination (RRR-PS) in activating blood circulation and dispelling blood stasis were investigated by integrating efficacy experiments, network pharmacology and HPLC. The rat model of blood stasis syndrome was established, and the blood rheology index and coagulation four comprehensive evaluation were carried out. The results showed that compared with the model group, the whole blood viscosity, erythrocyte sedimentation rate and erythrocyte aggregation index of the rats in the RRR-PS group were significantly callback (
6.Clinical application of holistic assessment for individualized endoscopic functional rhinoplasty
Xia KE ; Yucheng YANG ; Yang SHEN ; Jie LIU ; Jiangju HUANG ; Suling HONG
Chinese Journal of Plastic Surgery 2024;40(8):829-837
Objective:To investigate the diagnosis and strategy of individualized functional rhinoplasty based on the overall evaluation of the nasal cavity as a integration.Methods:A prospective study was carried out in the patients who underwent endoscopic functional rhinoplasty at the Department of Otorhinolaryngology, the First Affiliated Hospital of Chongqing Medical University from February 2018 to August 2021. The overall evaluation of the internal and external structure and function of the nasal cavity was performed before surgery, and the individualized surgical strategies were developed. According to the surgical strategy, nasal septum correction, inferior turbinate ablation, inferior turbinate fracture displacement, inferior turbinate submucous resection, dorsal extended cartilage graft, crooked nose correction, prosthesis or autologous cartilage implantation, hump reduction and osteotomy were performed to adjust the nasal function and aesthetics. Internal nasal valve (INV) angle, INV collapse grade, INV cross-sectional area, and external nasal valve effectiveness (ENVE) index were used to evaluate the structure of nasal valve area. Nasal obstruction symptom assessment (NOSE) scale and nasal resistance [including total nasal resistance (RT), nasal resistance differential ratio (R 1r)] was used to evaluate nasal ventilation function. Facial clinimetric evaluation questionnaire rhinoplasty module (FACE-Q RM), rhinoplasty outcome evaluation (ROE) scale, external nasal subunit measurement was used to evaluate nasal appearance, and self-rating depression scale (SDS) and self-rating anxiety scale (SAS) was used to evaluate psychological status. Finally, the correlation between patient satisfaction and subjective and objective parameters were analyzed. The data before and after operation were compared by paired t-test. Correlation was tested by Pearson analysis. Results:A total of 50 patients were included, including 18 males and 32 females, ranging in age from 23 to 52 years, mean age 35.7 years. All patients had symptoms of nasal congestion, of which 28 cases with crooked nose deformity, 12 cases with nasal valve stenosis, 6 cases with saddle nose deformity, and 4 cases with hump nose. Compared with preoperative, postoperative INV angle was significantly increased, INV collapse grade was decreased, INV cross-sectional area was increased, ENVE index was increased ( P<0.05). After operation, the NOSE score decreased, and nasal resistance showed that RT and R 1r decreased, indicating that nasal congestion symptoms were relieved significantly ( P<0.05). The postoperative FACE-Q RM and ROE scores increased, indicating that patients’ nasal appearance satisfaction increased ( P<0.05), external nasal subunit measurement showed that the upper nasal alar width and lower nasal alar angle were reduced ( P<0.05), the measured value of residual structure has no significant change. Postoperative SDS and SAS scores were significantly lower than preoperative ones, and the difference was statistically significant ( P<0.05).Overall satisfaction was improved( P<0.05). Pearson correlation analysis showed that patient satisfaction was positively correlated with INV angle, INV cross-sectional area, ENVE index, and subjective nasal shape score (FACE-Q RM, ROE), and negatively correlated with INV collapse grade, NOSE score, and nasal resistance measurement, but had no correlation with external nasal subunit measurement. Conclusion:Combined with the overall evaluation of nasal structure, nasal ventilation function and external nasal aesthetics, it is beneficial to develop the diagnosis and treatment strategy of individualized functional rhinoplasty, so as to improve patient satisfaction.
7.Protective effect of Shenbining granule on renal tissue of IgA nephropathy rats based on mitochondrial quality control system
Yanmin FAN ; Chundong SONG ; Huiyuan SHI ; Ke SONG ; Chenchen CHEN ; Xia ZHANG ; Xianqing REN ; Ying DING ; Mo WANG
China Pharmacy 2024;35(24):2984-2989
OBJECTIVE To explore the renal protective mechanism of Shenbining granules on IgA nephropathy (IgAN) rats based on mitochondrial quality control system. METHODS IgAN rat model was established by the method of “bovine serum albumin+carbon tetrachloride+lipopolysaccharide”. The model rats were randomly divided into model group, prednisone acetate group (6.25 mg/kg), Shenbining equal-dose group (4.1 g/kg) and Shenbining high-dose group (20.5 g/kg). The normal rats were taken as the normal control group, with 12 rats in each group. Rats were given corresponding drugs or distilled water intragastrically in each group, once a day, for 4 consecutive weeks. After the last medication, the 24 h total urinary protein (24 h- UTP) and erythrocyte count in urine were determined, and the levels of serum creatinine (Scr), blood urea nitrogen (BUN), albumin (ALB) and alanine transaminase (ALT) were also detected. The histopathological changes in the kidneys and changes in IgA deposition in the mesangial area of the kidney were observed. mRNA and protein expression levels of PTEN-induced putative kinase 1 (PINK1), E3 ubiquitin ligase(Parkin), microtubule-associated protein 1 light chain-3 (LC3), dynamin-related protein 1 (Drp1) and mitofusin 2 (Mfn2) were detected in the kidney tissues of rats. RESULTS Compared with model group, 24 h-UTP, urinary erythrocyte count, ALT, BUN and Scr levels, LC3-Ⅱ/LC3-Ⅰ mRNA ratio, mRNA and protein expressions of Drp1 were reduced significantly in prednisone acetate group, Shenbining equal-dose group and Shenbining high-dose group (P<0.05); ALB level, LC3-Ⅱ/LC3-Ⅰ protein ratio, mRNA and protein expressions of PINK1, Parkin and Mfn2 were increased significantly (P<0.05); the pathological morphology of kidney tissue in rats was significantly improved, and IgA deposition was significantly reduced. CONCLUSIONS Shenbining granule may reduce renal pathological injury in IgAN rats and protect renal function by activating the PINK1/Parkin pathway, enhancing mitochondrial autophagy, and correcting mitochondrial kinetic disorders.
8.The clinical correlations of gene polymorphism of methylenetetrahydrofolate reductase with Alzheimer's disease
Mengzhe YOU ; Xia ZHOU ; Wenwen YIN ; Ke WAN ; Zhongwu SUN
Acta Universitatis Medicinalis Anhui 2024;59(6):1081-1088
Objective To investigate the correlation between the methylenetetrahydrofolate reductase(MTHFR)C677T polymorphism and disease in the course of Alzheimer's disease(AD),as well as whether whether it is af-fected by APOE gene.Methods A total of 74 AD patients,85 aMCI patients and 81 healthy controls(HC)were included.The levels of serum homocysteine(Hcy),folate,and vitamin B12,as well as the genotypes of MTHFR C677T and APOE,were determined.Logistic regression analysis was conducted to explore the relationship between MTHFR C677T polymorphism and the risk of AD and aMCI,as well as in different APOE ε4 subgroups.Results Compared with HC group,the serum Hcy levels in AD group and aMCI group were significantly higher(P<0.001,P<0.001),while serum folate levels in aMCI group was significantly lower(P=0.017).The serum fo-late level was significantly lower(P=0.038)in individuals with the MTHFR TT genotype compared to those with CC and CT genotypes,while the serum Hcy level was significantly higher(P=0.002).Regression analysis showed that the MTHFR TT genotype might increase the risk of aMCI in the subgroup of APOE e4 non-carriers(OR=3.670,95%CI=1.077-12.509,P=0.038),but not in APOE e4 carriers.Conclusion MTHFR C677T polymorphism plays an important role in Hcy metabolism,which leads to increased serum Hcy levels and decreased folate levels.In APOE ε4 non-carriers,the MTHFR TT genotype may increase the risk of aMCI.
9.Aphasia in Right Hemiparesis and Pain in Left Waist:A Deceiving Case in Vascular Ehlers-Danlos Syndrome
Yining FU ; Jingmin ZHOU ; Feng LI ; Shangzhi HUANG ; Yining WANG ; Xia HONG ; Ke LYU ; Yaping LIU ; Ling LENG ; Wenjie ZHENG ; Zhengqing QIU ; Yicheng ZHU ; Yuehong ZHENG ; Yuexin CHEN
JOURNAL OF RARE DISEASES 2024;3(2):224-231
The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.
10.Analysis of risk factors for long-term overactive bladder after radical prostatectomy
Ye YAN ; Xiaolong LI ; Haizhui XIA ; Xuehua ZHU ; Yuting ZHANG ; Fan ZHANG ; Ke LIU ; Cheng LIU ; Lu-Lin MA
Journal of Peking University(Health Sciences) 2024;56(4):589-593
Objective:To analyze the incidence and progression of overactive bladder(OAB)symp-toms following radical prostatectomy for prostate cancer patients and to identify related risk factors.Methods:A retrospective study was conducted on 263 local stage prostate cancer patients who underwent radical prostatectomy at Peking University Third Hospital from January 2013 to May 2017.Clinical base-line information,comprehensive imaging features,perioperative parameters,preoperative urinary control status,pathological diagnosis,and the incidence of OAB within one year postoperatively were collected and analyzed.In the imaging features,two parameters were defined:Bladder wall thickness(BWT)and bladder mucosal smoothness(BMS),which were used to predict the occurrence of OAB.Patients were evaluated based on their clinical baseline characteristics,including age,body mass index(BMI),co-morbidities,and prostate-specific antigen(PSA)levels.The imaging characteristics were assessed using preoperative MRI,focusing on BWT and BMS.Perioperative parameters included operative time,blood loss,and length of hospital stay.The OAB symptoms were assessed using the overactive bladder symptom score(OABSS)and the international prostate symptom score(IPSS).These scores were correlated with the postoperative incidence of OAB.Results:Among the 263 patients who underwent radical prostatecto-my,52(19.8%)exhibited OAB within one year postoperatively.Of the 40 patients with preoperative OAB symptoms,17(42.5%)showed remission postoperatively,while 23(57.5%)had persistent symptoms.Additionally,29 patients developed new-onset OAB,accounting for 55.77%of all postopera-tive OAB cases.Univariate analysis indicated that BWT,BMS,OABSS,and IPSS score were all associ-ated with the occurrence of postoperative OAB.Further multivariate analysis identified BMS as an inde-pendent risk factor for long-term OAB(P<0.001).Conclusion:Long-term postoperative overactive bladder is a common complication following radical prostatectomy.The findings suggest that preoperative MRI measurements of bladder wall thickness and bladder mucosal smoothness during bladder filling phase can predict the risk of OAB occurrence postoperatively.Identifying these risk factors preoperatively can help in counseling patients about potential complications and in developing strategies to mitigate the risk of developing OAB after surgery.Early detection and management of these parameters might improve the quality of life for patients undergoing radical prostatectomy.


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