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. Effects of HMGB1 on phenotypes, phagocytosis and ERK/JNK/P38 MAPK signaling pathway in dendritic cells
Ying-Ying CHEN ; Zhi-Xiang MOU ; Xiao-Long HU ; Yi-Yan ZHANG ; Jiao-Qing WENG ; Tian-Jun GUAN ; Ying-Ying CHEN ; Lan CHEN ; Tian-Jun GUAN ; Lan CHEN ; Pei-Yu LYU
Chinese Pharmacological Bulletin 2024;40(2):248-255
Aim To explore the impacts of high mobility group box 1 (HMGB1) on the phenotypes, endocy-tosis and extracellular signal-regulated kinase (ERK)/ Jun N-terminal protein kinase (JNK)/P38 mitogen-ac-tivated protein kinase (MAPK) signaling pathway in indoxyl sulfate (IS) -induced dendritic cells (DCs). Methods After treatment with 30, 300 and 600 (xmol · L
3.Mutational Spectrum and Prognosis Analysis of Young Patients with Diffuse Large B-Cell Lymphoma Based on Next-Generation Sequencing.
Li-Yang LYU ; Yu-Ling NIE ; Abulaiti RENAGULI ; Xiao-Long QI ; Abuduer MUHEBAIER ; Shun-Sheng ZHAI ; Li AN ; Min MAO ; Yan LI
Journal of Experimental Hematology 2023;31(2):403-410
OBJECTIVE:
To investigate the mutational spectrum in young patients with diffuse large B-cell lymphoma (DLBCL) based on next generation sequencing (NGS), and to provide a basis for in-depth understanding of the molecular biological characteristics and accurate prognosis of young DLBCL.
METHODS:
From March 2009 to March 2021, 68 young DLBCL patients with complete initial diagnosis data from the Department of Hematology, The People's Hospital Xinjiang Uygur Autonomous Region were retrospectively analyzed, and their paraffin-embedded tissues were subjected to targeted sequencing analysis by NGS technology (including 475 Target genes), and the differences in gene mutation profiles and signaling pathways between high-risk patients with aaIPI ≥2 and low-intermediate risk patients with aaIPI <2 were compared.
RESULTS:
A total of 44 high-frequency mutation genes were detected in 68 young DLBCL patients. By comparing the high-frequency mutation genes in aaIPI high-risk group and low-intermediate risk group, it was found that CARD11 mutation in aaIPI high-risk group was significantly higher than that in low-intermediate risk group (P =0.002), while MGA mutation (P =0.037) only appeared in the aaIPI high-risk group, and SPEN mutation (P =0.004) only appeared in the aaIPI low-intermediate risk group. The high-frequency mutation genes and clinical indicators of the aaIPI high-risk group were included in the survival analysis, and the results showed that TP53 (P =0.009, P =0.027), POU2AF1 (P =0.003, P =0.006) and CCND3 (P =0.040, P =0.014) genes mutations were associated with worse PFS and OS, while B2M was associated with better PFS (P =0.014) and OS (P =0.013). Multivariate COX regression analysis showed that the TP53, POU2AF1 and CCND3 were independent risk factors for PFS(P =0.021,P =0.005,P =0.020) and OS(P =0.042,P =0.010,P =0.013).
CONCLUSION
The aaIPI staging combination with molecular biology markers is more conducive to accurately judging the prognosis of young DLBCL patients. TP53, POU2AF1 and CCND3 mutations predict worse survival in the patients with the aaIPI high-risk group.
Humans
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Retrospective Studies
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Prognosis
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Lymphoma, Large B-Cell, Diffuse/genetics*
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Biomarkers
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Mutation
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High-Throughput Nucleotide Sequencing
4.HIV self-testing and related factors in men who have sex with men in Shijiazhuang.
Pei Long LI ; Hou Lin TANG ; Dong Min LI ; Lin GE ; Juan YANG ; Yan Chao QIU ; Xiao Song LIU ; Liang LIANG ; Fan LYU
Chinese Journal of Epidemiology 2023;44(5):797-801
Objective: To understand HIV self-testing and related factors in men who have sex with men (MSM) in Shijiazhuang. Methods: From August to September 2020, convenient sampling was used to recruit MSM in Shijiazhuang. Online questionnaires were used to collect information about their demographic characteristics, sexual behaviors and HIV self-testing. logistic regression model was used to analyze the related factors associated with HIV self-testing. Results: In the 304 MSM respondents, 52.3% (159/304) had HIV self-testing in the past 6 months, and 95.0% (151/159) used fingertip blood HIV detection reagent. Self-purchase was the main way to obtain HIV testing reagents (45.9%, 73/159), followed by supply from MSM social organization (44.7%, 71/159). The reasons for having HIV self-testing were non-specific testing time (67.9%, 108/159) and privacy protection (62.9%,100/159), the reasons for having no HIV self-testing included inability of using (32.4%, 47/145), being unaware of HIV self-testing reagent (24.1%, 35/145), and worry about inaccurate self-testing results (19.3%, 28/145). Multivariate logistic regression analysis showed that being 18-29 years old (aOR=2.68, 95%CI: 1.20-5.94), obtaining free HIV self-testing kits in recent 6 months (aOR=8.61, 95%CI: 4.09-18.11) and making friends through Internet and social software (aOR=2.68, 95%CI: 1.48-4.88) were positive factors for having HIV self-testing. Conclusion: HIV self-testing is a more flexible and convenient way to detect HIV in MSM, and the promotion of HIV self-testing in MSM should be strengthened to further increase the HIV detection rate in this population.
Male
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Humans
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Adolescent
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Young Adult
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Adult
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Homosexuality, Male
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Self-Testing
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Sexual and Gender Minorities
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HIV Testing
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Sexual Behavior
5.Synchronization isolation method for multiple types of cells from mouse liver.
Jian GAN ; Cui Feng JI ; Xiao Rong MAO ; Jiang Tao WANG ; Chun Yan LYU ; Yi Fan SHI ; Yao LIAO ; Ya Li HE ; Lian SHU ; Long LI ; Jun Feng LI
Chinese Journal of Hepatology 2023;31(5):532-537
Objective: To explore a simple and feasible method for the isolation and purification of hepatocytes, hepatic stellate cells (HSC), and lymphocytes from mice. Methods: The cell suspension was obtained from male C57bl/6 mice by hepatic perfusion through the portal vein digestion method and then isolated and purified by discontinuous Percoll gradient centrifugation. Trypan blue exclusion was used to determine cell viability. Glycogen staining, cytokeratin 18, and transmission electron microscopy were used to identify hepatic cells. Immunofluorescence was used to detect α-smooth muscle actin combined with desmin in HSCs. Flow cytometry was used to analyze lymphocyte subsets in the liver. Results: After isolation and purification, about 2.7×10(7) hepatocytes, 5.7×10(5) HSCS, and 4.6×106 hepatic mononuclear cells were obtained from the liver of mice with a body weight of about 22g. The cell survival rate in each group was > 95%. Hepatocytes were apparent in glycogen deposited purple-red granules and cytokeratin 18. Electron microscopy showed that there were abundant organelles in hepatocytes and tight junctions between cells. HSC had expressed α-smooth muscle actin and desmin. Flow cytometry showed hepatic mononuclear cells, including lymphocyte subsets such as CD4, CD8, NKs, and NKTs. Conclusion: The hepatic perfusion through the portal vein digestion method can isolate multiple primary cells from the liver of mice at once and has the features of simplicity and efficiency.
Male
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Mice
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Animals
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Keratin-18
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Actins
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Desmin
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Liver
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Hepatocytes
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Hepatic Stellate Cells
6.A Case Report of Blau Syndrome
Guozhuang LI ; Kexin XU ; Sen ZHAO ; Jianguo ZHANG ; Guixing QIU ; Ruifang SUI ; Tao WANG ; Min SHEN ; Xuejun ZENG ; Wei WANG ; Mingsheng MA ; Min WEI ; Xiao LONG ; Ke LYU ; Li HUO ; Lei XUAN ; Nan WU
JOURNAL OF RARE DISEASES 2023;2(4):547-553
Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extremely rare, with a global incidence of less than one in a million among children. In this multidisciplinary consultation, we present a case of a 21-year-old young female patient having multisystemic involvement since early childhood. She was presented with multiple joint swelling, skin lesions, increased eye discharge, and accompanied by hypertension and arterial abnormalities, and received a diagnosis of uveitis. The patient had been receiving steroid treatment since the age of 6 and has tried various medications, with some improvement in joint swelling and ocular symptoms. Through this rare disease multidisciplinary consultation, we aim to provide guidance in the molecular diagnosis of the patient, multisystem assessment, and the selection and formulation of treatment plans. Additionally, we hope that by reporting this case, clinical physicians can gain a better understanding of the diagnosis and comprehensive treatment strategies for Blau syndrome, thereby improving the management and treatment of rare diseases.
7.Compliance and curative effect and their correlation of comprehensive vision training in patients with amblyopia
Jing-Jing LIN ; Xiao-Long LYU ; Yong CHEN
International Eye Science 2022;22(10):1753-1756
AIM:To analyze the compliance and curative effect of comprehensive vision training in patients with amblyopia. METHODS:A prospective study was conducted among 200 patients(294 eyes)with amblyopia who were treated in the hospital from July 2018 to August 2019. The patients were divided into a control group(98 patients, 140 eyes, traditional comprehensive vision training)and an experimental group(102 patients, 154 eyes, intelligent multi-dimensional comprehensive vision training)according to the random number table method. Curative effect, compliance, and the correlation between the two groups were observed.RESULTS:The overall response rate and compliance rate in the experimental group(93.5%, 45.1%)were higher than those in the control group(80.0%, 35.7%, all P<0.05). The curative effect was different in patients of different age, with different types and severity of amblyopia, different nature of fixation, and different compliance(all P<0.001). Age and the severity of amblyopia were negatively correlated with the curative effect(r=-0.342, -0.459, P<0.001), while compliance was positively correlated with the curative effect(r=0.378, P<0.001). Patients aged 3-6 had significantly better compliance, followed by those aged 7-10(P<0.05). Age was negatively correlated with treatment compliance(r=-0.398, P<0.001).CONCLUSION:Intelligent multi-dimensional comprehensive vision training can improve the compliance of patients with amblyopia, thereby achieving better curative effect. The curative effect is closely related to age, the type and severity of amblyopia, the nature of fixation and compliance. Compliance is related to age. Clinically, early treatment should be conducted bases on these features.
8.The effects of robotic-assisted versus laparoscopic-assisted radical right hemicolectomy on short-term outcome and long-term prognosis based on propensity score matching.
Xing Qi ZHANG ; Shou Gen CAO ; Xiao Dong LIU ; Ze Qun LI ; Yu Long TIAN ; Jian Fei XU ; Cheng MENG ; Yi LI ; Xiao Jie TAN ; Shang Long LIU ; Dong GUO ; Xue Long JIAO ; Yu LI ; Dong CHEN ; Liang LYU ; Jian ZHANG ; Hai Tao JIANG ; Zhao Jian NIU ; Yan Bing ZHOU
Chinese Journal of Surgery 2022;60(2):148-153
Objective: To compare the short-term and long-term outcomes between robotic-assisted and laparoscopic-assisted radical right hemicolectomy in patients with adenocarcinoma of the right colon. Methods: Retrospective review of a prospectively collected database identified 288 right colon cancer patients who underwent either robotic-assisted (n=57) or laparoscopic-assisted right hemicolectomy (n=231) between October 2014 and October 2020 at Department of Gastrointestinal Surgery, the Affiliated Hospital of Qingdao University. There were 161 males and 127 females, aging (60.3±12.8) years (range: 17 to 86 years). After propensity score matching as 1∶4 between robotic-assisted and laparoscopic-assisted right hemicolectomy, there were 56 cases in robotic group and 176 cases in laparoscipic group. Perioperative outcomes and overall survival were compared between the two groups using t test, Wilcoxon rank sum test, χ2 test, Fisher exact test, Kaplan-Meier method and Log-rank test, respectively. Results: The total operative time was similar between the robotic and laparoscopic group ((206.9±60.7) minutes vs. (219.9±56.3) minutes, t=-1.477, P=0.141). Intraoperative bleeding was less in the robotic group (50 (20) ml vs. 50 (50) ml, Z=-4.591, P<0.01), while the number of lymph nodes retrieved was significantly higher (36.0±10.0 vs. 29.0±10.1, t=4.491, P<0.01). Patients in robotic group experienced significantly shorter hospital stay, shorter time to first flatus, and defecation (t: -2.888, -2.946, -2.328, all P<0.05). Moreover, the overall peri-operative complication rate was similar between robotic and laparoscopic group (17.9% vs. 22.7%, χ²=0.596,P=0.465). The 3-year overall survival were 92.9% and 87.9% respectively and the 3-year disease-free survival rates were 83.1% and 82.6% with no statistical significance between the robotic and laparoscopic group (P>0.05). Conclusions: Compared to laparoscopic-assisted right hemicolectomy, robot-assisted right hemicolectomy could improve some short-term clinical outcomes. The two procedures are both achieving comparable survival.
Colectomy
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Colonic Neoplasms/surgery*
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Female
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Humans
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Laparoscopy
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Male
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Prognosis
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Propensity Score
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Retrospective Studies
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Robotic Surgical Procedures
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Treatment Outcome
9.Molecular Mechanism of Salvia miltiorrhiza Quality Formation Based on Single Nucleotide Polymorphism of Functional Genes
Wen-juan XU ; Bei-ning LI ; Ling-long LUO ; Chi ZHANG ; Xiao-bo ZHANG ; Jun-ling LI ; Lyu-bu AGA ; Xue-yong WANG
Chinese Journal of Experimental Traditional Medical Formulae 2021;27(13):97-107
Objective:To investigate the relationship between the single nucleotide polymorphism(SNP)of function genes and effective components of
10.Feasibility of radiofrequency ablation for cancer patients with atrial fibrillation.
Yun Song WANG ; Dao Bo LI ; Cheng CHEN ; Yu Shan WEI ; Hai Chen LYU ; Jia Yu HAN ; Ying Xue DONG ; Xiao Meng YIN ; Lian Jun GAO ; Yun Long XIA
Chinese Journal of Cardiology 2021;49(8):790-795
Objective: To analyze the impact of cancer on the recurrence rate of atrial fibrillation (AF) after AF radiofrequency ablation and further evaluate the feasibility of radiofrequency ablation therapy in cancer patients with AF. Methods: This study was a single-center, retrospective study. Cancer patients with AF undergoing radiofrequency ablation for the first time in the First Affiliated Hospital of Dalian Medical University from May 30, 2008 to September 30, 2018 were included (cancer group). AF patients without cancer undergoing radiofrequency ablation for the first time during the same period served as non-cancer group. Clinical data including age, gender, past history, cancer and AF-related parameters, etc. were analyzed. Patients were followed up after radiofrequency ablation. The primary endpoints were AF recurrence or all-cause death. Kaplan-Meier survival analysis was used to analyze the effect of cancers on the recurrence after AF ablation. The multivariate cox regression analysis was further applied to correct for other confounding factors to analyze whether the impact of cancers on the recurrence of atrial fibrillation was statistically significant. Results: A total of 90 patients were enrolled, there were 30 patients in the cancer group (mean age (64.8±6.6) years, 16 (53.3%) males) and 60 patients in the non-cancer group (mean age (63.6±6.2) years, 32 (53.3%) males). Clinical data, such as age, gender, and cancer treatment, were similar between the two groups. During an average follow-up period of (328.7±110.2) days, there were 6 AF recurrences (recurrence rate 20.0%) in the cancer group, and 17 AF recurrences (recurrence rate 28.3%) in the control group. AF recurrence rate was similar between the two groups (P>0.05). During the follow-up period, there was no all-cause death in the two groups. Kaplan-Meier survival analysis showed that cancer was not related to AF recurrence after radiofrequency ablation (P = 0.383). After adjusting for other confounding factors, the multivariate Cox regression analysis showed that cancer was not an independent predictor of AF recurrence after radiofrequency ablation (HR=0.508, 95%CI: 0.192-1.342, P = 0.172). Conclusions: The combination of cancer has no impact on the recurrence of AF after radiofrequency ablation. For cancer patients with AF, radiofrequency ablation therapy can be considered as a feasible heart rhythm control treatment strategy.

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