1.Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Fan YU ; Yinfang TU ; Yanfang ZHANG ; Tianwei GU ; Haoyong YU ; Xiangyu MENG ; Si CHEN ; Fengjing LIU ; Ke HUANG ; Tianhao BA ; Siqian GONG ; Danfeng PENG ; Dandan YAN ; Xiangnan FANG ; Tongyu WANG ; Yang HUA ; Xianghui CHEN ; Hongli CHEN ; Jie XU ; Rong ZHANG ; Linong JI ; Yan BI ; Xueyao HAN ; Hong ZHANG ; Cheng HU
Chinese Medical Journal 2025;138(9):1129-1131
2.Risk factors and prediction model construction of bacterial infection after gastroscopy in patients with cirrhosis and gastroesophageal varices
Xiangyu FANG ; Chuan SHEN ; Luyuan MA ; Yuexia LIU ; Chun LIU ; Caiyan ZHAO
Chinese Journal of Infectious Diseases 2025;43(8):457-464
Objective:To analyze the risk factors of bacterial infection in patients with liver cirrhosis complicated with gastroesophageal varices after gastroscopy, and to construct a prediction model.Methods:Patients with gastroesophageal varices due to cirrhosis who underwent gastroscopy in the Third Hospital of Hebei Medical University from January 2021 to May 2023 were enrolled. All patients were divided into infection group and non-infection group according to whether bacterial infection occurred after gastroscopy. The detection of pathogens in the infection group and the source of specimens were analyzed. Multivariate binary logistic regression was used to analyze the risk factors of postoperative bacterial infection in patients with cirrhosis and gastroesophageal varices. The nomogram was drawn by R language to construct a risk prediction model. Receiver operator characteristic curve (ROC curve), calibration curve, Hosmer-Lemeshow test and decision curve were used to evaluate the model.Results:Among the 480 patients, 57 had postoperative bacterial infection and 423 had no infection. The incidence of infection was 11.88%(57/480). Seventy bacterial culture positive samples were obtained, mainly from blood and respiratory tract (30 samples (42.86%) and 25 samples (35.71%), respectively). A total of 82 strains of pathogenic bacteria were isolated, including 16 strains of Escherichia coli and 14 strains of Staphylococcus aureus. Multivariate binary regression analysis showed that length of hospital stay (odds ratio ( OR)=1.13, 95% confidence interval ( CI) 1.06 to 1.20, P<0.001), age ( OR=1.06, 95% CI 1.02 to 1.10, P=0.006), model for end-stage liver disease combined with sodium (MELD-Na) score ( OR=1.10, 95% CI 1.02 to 1.18, P=0.014), diabetes ( OR=1.25, 95% CI 1.07 to 1.96, P=0.043) and emergency gastroscopy ( OR=2.95, 95% CI 1.20 to 7.25, P=0.019) were independent risk factors for bacterial infection after gastroscopy in patients with cirrhosis and gastroesophageal varices. Based on the above risk factors, a nomogram prediction model was constructed. The results of ROC curve analysis showed that the area under the curve of the nomogram model for predicting bacterial infection after gastroscopy of gastroesophageal varices in cirrhosis was 0.82 (95% CI 0.73 to 0.90). The slope of the calibration curve was 0.98(95% CI 0.92 to 1.04), indicating that the predicted probability of the model was in good agreement with the actual probability. The results of Hosmer-Lemeshow test showed that the nomogram model fitted well ( χ2=6.35, P=0.415). The decision curve analysis showed that the clinical net benefit rate of the nomogram model was >0 when the threshold probability was 0.039 to 0.410. Conclusions:Older age, length of hospital stay, MELD-Na score, history of diabetes, and emergency gastroscopy are independent risk factors for bacterial infection after gastroscopy in patients with cirrhosis and gastroesophageal varices. The prediction model constructed in this study has a good predictive value for bacterial infection in such patients.
3.Clinical efficacy of stellate ganglion block combined with intranasal dexmedetomidine spray in patients with insomnia disorders
Ziqi HUANG ; Xiaomin FAN ; Fang LIU ; Baojia LIN ; Shunqing HU ; Xiangyu LIU ; Shuangrui WANG ; Yongjia WANG ; Xinjian ZHANG
The Journal of Practical Medicine 2025;41(3):391-395
Objective To evaluate the clinical efficacy of stellate ganglion block(SGB)combined with intranasal dexmedetomidine for the treatment of insomnia.Methods A total of 64 patients aged 18 to 75 with insom-nia were randomly assigned to either the experimental group(DS group)or the control group(S group).The S group received SGB treatment for 14 consecutive days,whereas the DS group received an additional intranasal dexmedeto-midine spray at a dose of 100 μg,administered 30 minutes before bedtime on days 1 through 6,in conjunction with SGB.We measured and recorded the Pittsburgh Sleep Quality Index(PSQI),Self-Rating Depression Scale(SDS),Self-Rating Anxiety Scale(SAS)scores,and Psychomotor Vigilance Test(PVT)results for both groups at three time points:baseline(T1),the day after treatment(T2),and one month after treatment(T3).Results Intra-group Com-parison:In both the DS and S groups,PSQI scores and dimensionspecific scores at T2 and T3 were significantly lower compared to T1(P<0.05).SAS and SDS scores in both groups showed a significant reduction at T3 compared to T1 and T2(P<0.05),while PVT results exhibited no significant changes(P>0.05).Inter-group Comparison:The PSQI scores and dimensionspecific scores in the DS group at T2(8.44±2.99)and T3(8.22±2.60)were significantly lower than those in the S group at T2(10.88±2.56)and T3(10.88±2.84)(P<0.05).However,no significant differences were observed in SDS and SAS scores between the DS and S groups at T2 and T3(P>0.05).Conclusion Compared to standalone SGB,the combination of SGB with intranasal dexmedetomidine significantly enhances sleep quality in patients with insomnia,while not impacting their levels of anxiety,depression,or alertness.
4.Preliminary Clinical Study of Contrast-free Endovascular Aortic Repair(FLARE Technique)
Hui HAN ; Junyu WANG ; Xiangyu LI ; Limin YUAN ; Kun FANG ; Chang SHU ; Mingyao LUO
Chinese Circulation Journal 2025;40(11):1096-1102
Objectives:To evaluate the safety and feasibility of endovascular aortic repair without contrast agent under branch artery guidewire marking(FLARE technique).Methods:The clinical data of 7 patients who underwent contrast-free endovascular aortic repair with branch artery guidewire marking in Fuwai Hospital from 2024 to 2025 were retrospectively analyzed.The criteria for patient selection included renal insufficiency,history of contrast agent allergy,high risk of high-pressure angiography due to extensive calcification of the aortic arch,and patients'strong personal wishes,all patients merited with anatomically friendly and anchored area criteria.The patients were evaluated by preoperative computed tomography or color Doppler ultrasound,and the occlusive stent anchor point was located by branch artery guidewire marking combined with bone marking during surgery.The primary endpoints were early stage of postoperative renal function changes(comparison of preoperative and postoperative serum creatinine)and surgical technique success rate,and the secondary endpoints included the incidence of internal leakage,re-intervention rates,and incidence of aneurysm and kidney-related adverse events during follow-up.Results:Among the seven patients who underwent endovascular aortic repair without contrast using a branch artery guidewire,four were male,with an average age of(72.0±5.9)years.Six of these patients had infrarenal abdominal aortic aneurysms,two of them with bilateral renal artery severe stenosis and renal insufficiency underwent renal artery stenting combined with endovascular aortic repair,one patient had isolated chronic renal insufficiency,one had a history of iodine contrast skin allergy,and the remaining two cases wished this surgery option.The seventh patient had a penetrating ulcer in the aortic arch and descending aorta,along with extensive thrombosis and calcification in the ascending aorta,aortic arch and descending aorta.All the patients achieved surgical technique success.No iodine contrast agent was used during the procedure for endovascular aortic repair.In patients with chronic renal insufficiency and renal artery stenosis before surgery,serum creatinine levels were significantly improved after surgery.All patients did not need hemodialysis,there was no allergic reaction,and no graft-related or perioperative complications.The average follow-up was(5.8±3.0)months,all patients recovered well without re-intervention or complications.The creatinine levels did not fluctuate significantly after surgery.Conclusions:Branch artery guidewire marked contrast-free aortic endovascular repair may be a safe and feasible treatment option in selected patients,especially in patients with contraindications to contrast agents.
5.Association of Rab37 gene polymorphism and delayed menarche:a report of 2 060 women
Meng YUAN ; Yang CAI ; Xiaoyu FANG ; Hongyao LYU ; Jiao WANG ; Xiangyu MA
Journal of Army Medical University 2025;47(6):623-628,后插1
Objective To explore the association between single nucleotide polymorphism(SNP)of Rab37 gene and the age at menarche(AAM).Methods A case-control study design was used to conduct an epidemiologic survey on 2 060 women in a community in Jurong City,Jiangsu Province,and their venous blood samples were collected.ASA chip was used to explore the Rab37 gene genotyping of blood sample DNA to obtain the genotyping results for Rab37 SNPs rs62084865,rs10512597,rs35489971,rs1037170,rs6501732,rs77822106,and rs3178300.Based on menarche time of<16 years old or≥16 years old,the participants were divided into 2 groups.Linear and logistic regression analyses were used to explore the association between the SNP of Rab37 gene and the age at menarche based on dominant,recessive and allelic models.Results Among the 2 060 healthy women,944 women had normal menstrual periods,while 1 116 women experienced delayed menarche.Linear regression analysis showed that the gene polymorphism of rs3178300 was negatively correlated with the age at menarche in females[recessive model:CC/CT+TT,β=-0.915,95%CI(-1.692,-0.137),P=0.021;allelic model:T/C,β=-0.221,95%CI(-0.410,-0.032),P=0.022].Logistic regression analysis indicated that the gene polymorphism of rs3178300 was significantly associated with the risk of delayed menarche in females[recessive model:CC/CT+TT,OR=0.295,95%CI(0.116,0.751),P=0.010;allelic model:T/C,OR=0.796,95%CI(0.652,0.972),P=0.025].The remaining 6 SNPs showed no significant association with age at menarche.Conclusion The rs3178300 polymorphism of Rab37 gene is significantly associated with delayed menarche in Chinese women.
6.Clinical characteristics and genetic analysis of spinocerebellar ataxia type 3(report of one family)
Xiangyu XIAO ; Jiahua LV ; Fang LI
Journal of Clinical Neurology 2025;38(3):183-187
Objective To report the clinical,pathological,and genetic mutation characteristics of a family with spinocerebellar ataxia type 3(SCA3).Methods A retrospective analysis was conducted on the clinical features of multiple affected members in this family,and the latest relevant research progresses domestically and internationally were summarized.Results The proband presented with unsteady gait,dysarthria,choking while drinking,blurred vision,and severe sleep disturbances.Brain MRI revealed cerebellar atrophy.The proband's sister exhibited similar symptoms,including unsteady gait,dysarthria,choking while drinking,blurred vision,severe sleep disturbances,urinary incontinence,urinary retention,and severe depression.The proband's eldest daughter showed no obvious clinical symptoms but demonstrated poor balance ability.The proband's father,uncle,aunt,grandfather,grandfather's brother,and great-grandmother all died from the disease at the age of 40-50 years.Whole-exome sequencing results indicated that the CAG repeat numbers in the ATXN3 gene were 14/75 in the proband,14/77 in the proband's sister,and 25/77 in the proband's eldest daughter,all exceeding the normal range and confirming the pathogenic mutation.Conclusions SCA3,caused by excessive CAG repeat expansions in the ATXN3 gene,is the most common type of SCA and can affect multiple family members.In addition to ataxia,patients often experience various complications,including autonomic dysfunction,for which conventional treatments are largely ineffective.Whole-exome sequencing technology enables precise diagnosis of the disease and early identification of preclinical patients.
7.Preliminary Clinical Study of Contrast-free Endovascular Aortic Repair(FLARE Technique)
Hui HAN ; Junyu WANG ; Xiangyu LI ; Limin YUAN ; Kun FANG ; Chang SHU ; Mingyao LUO
Chinese Circulation Journal 2025;40(11):1096-1102
Objectives:To evaluate the safety and feasibility of endovascular aortic repair without contrast agent under branch artery guidewire marking(FLARE technique).Methods:The clinical data of 7 patients who underwent contrast-free endovascular aortic repair with branch artery guidewire marking in Fuwai Hospital from 2024 to 2025 were retrospectively analyzed.The criteria for patient selection included renal insufficiency,history of contrast agent allergy,high risk of high-pressure angiography due to extensive calcification of the aortic arch,and patients'strong personal wishes,all patients merited with anatomically friendly and anchored area criteria.The patients were evaluated by preoperative computed tomography or color Doppler ultrasound,and the occlusive stent anchor point was located by branch artery guidewire marking combined with bone marking during surgery.The primary endpoints were early stage of postoperative renal function changes(comparison of preoperative and postoperative serum creatinine)and surgical technique success rate,and the secondary endpoints included the incidence of internal leakage,re-intervention rates,and incidence of aneurysm and kidney-related adverse events during follow-up.Results:Among the seven patients who underwent endovascular aortic repair without contrast using a branch artery guidewire,four were male,with an average age of(72.0±5.9)years.Six of these patients had infrarenal abdominal aortic aneurysms,two of them with bilateral renal artery severe stenosis and renal insufficiency underwent renal artery stenting combined with endovascular aortic repair,one patient had isolated chronic renal insufficiency,one had a history of iodine contrast skin allergy,and the remaining two cases wished this surgery option.The seventh patient had a penetrating ulcer in the aortic arch and descending aorta,along with extensive thrombosis and calcification in the ascending aorta,aortic arch and descending aorta.All the patients achieved surgical technique success.No iodine contrast agent was used during the procedure for endovascular aortic repair.In patients with chronic renal insufficiency and renal artery stenosis before surgery,serum creatinine levels were significantly improved after surgery.All patients did not need hemodialysis,there was no allergic reaction,and no graft-related or perioperative complications.The average follow-up was(5.8±3.0)months,all patients recovered well without re-intervention or complications.The creatinine levels did not fluctuate significantly after surgery.Conclusions:Branch artery guidewire marked contrast-free aortic endovascular repair may be a safe and feasible treatment option in selected patients,especially in patients with contraindications to contrast agents.
8.Clinical characteristics and genetic analysis of spinocerebellar ataxia type 3(report of one family)
Xiangyu XIAO ; Jiahua LV ; Fang LI
Journal of Clinical Neurology 2025;38(3):183-187
Objective To report the clinical,pathological,and genetic mutation characteristics of a family with spinocerebellar ataxia type 3(SCA3).Methods A retrospective analysis was conducted on the clinical features of multiple affected members in this family,and the latest relevant research progresses domestically and internationally were summarized.Results The proband presented with unsteady gait,dysarthria,choking while drinking,blurred vision,and severe sleep disturbances.Brain MRI revealed cerebellar atrophy.The proband's sister exhibited similar symptoms,including unsteady gait,dysarthria,choking while drinking,blurred vision,severe sleep disturbances,urinary incontinence,urinary retention,and severe depression.The proband's eldest daughter showed no obvious clinical symptoms but demonstrated poor balance ability.The proband's father,uncle,aunt,grandfather,grandfather's brother,and great-grandmother all died from the disease at the age of 40-50 years.Whole-exome sequencing results indicated that the CAG repeat numbers in the ATXN3 gene were 14/75 in the proband,14/77 in the proband's sister,and 25/77 in the proband's eldest daughter,all exceeding the normal range and confirming the pathogenic mutation.Conclusions SCA3,caused by excessive CAG repeat expansions in the ATXN3 gene,is the most common type of SCA and can affect multiple family members.In addition to ataxia,patients often experience various complications,including autonomic dysfunction,for which conventional treatments are largely ineffective.Whole-exome sequencing technology enables precise diagnosis of the disease and early identification of preclinical patients.
9.Clinical efficacy of stellate ganglion block combined with intranasal dexmedetomidine spray in patients with insomnia disorders
Ziqi HUANG ; Xiaomin FAN ; Fang LIU ; Baojia LIN ; Shunqing HU ; Xiangyu LIU ; Shuangrui WANG ; Yongjia WANG ; Xinjian ZHANG
The Journal of Practical Medicine 2025;41(3):391-395
Objective To evaluate the clinical efficacy of stellate ganglion block(SGB)combined with intranasal dexmedetomidine for the treatment of insomnia.Methods A total of 64 patients aged 18 to 75 with insom-nia were randomly assigned to either the experimental group(DS group)or the control group(S group).The S group received SGB treatment for 14 consecutive days,whereas the DS group received an additional intranasal dexmedeto-midine spray at a dose of 100 μg,administered 30 minutes before bedtime on days 1 through 6,in conjunction with SGB.We measured and recorded the Pittsburgh Sleep Quality Index(PSQI),Self-Rating Depression Scale(SDS),Self-Rating Anxiety Scale(SAS)scores,and Psychomotor Vigilance Test(PVT)results for both groups at three time points:baseline(T1),the day after treatment(T2),and one month after treatment(T3).Results Intra-group Com-parison:In both the DS and S groups,PSQI scores and dimensionspecific scores at T2 and T3 were significantly lower compared to T1(P<0.05).SAS and SDS scores in both groups showed a significant reduction at T3 compared to T1 and T2(P<0.05),while PVT results exhibited no significant changes(P>0.05).Inter-group Comparison:The PSQI scores and dimensionspecific scores in the DS group at T2(8.44±2.99)and T3(8.22±2.60)were significantly lower than those in the S group at T2(10.88±2.56)and T3(10.88±2.84)(P<0.05).However,no significant differences were observed in SDS and SAS scores between the DS and S groups at T2 and T3(P>0.05).Conclusion Compared to standalone SGB,the combination of SGB with intranasal dexmedetomidine significantly enhances sleep quality in patients with insomnia,while not impacting their levels of anxiety,depression,or alertness.
10.Risk factors and prediction model construction of bacterial infection after gastroscopy in patients with cirrhosis and gastroesophageal varices
Xiangyu FANG ; Chuan SHEN ; Luyuan MA ; Yuexia LIU ; Chun LIU ; Caiyan ZHAO
Chinese Journal of Infectious Diseases 2025;43(8):457-464
Objective:To analyze the risk factors of bacterial infection in patients with liver cirrhosis complicated with gastroesophageal varices after gastroscopy, and to construct a prediction model.Methods:Patients with gastroesophageal varices due to cirrhosis who underwent gastroscopy in the Third Hospital of Hebei Medical University from January 2021 to May 2023 were enrolled. All patients were divided into infection group and non-infection group according to whether bacterial infection occurred after gastroscopy. The detection of pathogens in the infection group and the source of specimens were analyzed. Multivariate binary logistic regression was used to analyze the risk factors of postoperative bacterial infection in patients with cirrhosis and gastroesophageal varices. The nomogram was drawn by R language to construct a risk prediction model. Receiver operator characteristic curve (ROC curve), calibration curve, Hosmer-Lemeshow test and decision curve were used to evaluate the model.Results:Among the 480 patients, 57 had postoperative bacterial infection and 423 had no infection. The incidence of infection was 11.88%(57/480). Seventy bacterial culture positive samples were obtained, mainly from blood and respiratory tract (30 samples (42.86%) and 25 samples (35.71%), respectively). A total of 82 strains of pathogenic bacteria were isolated, including 16 strains of Escherichia coli and 14 strains of Staphylococcus aureus. Multivariate binary regression analysis showed that length of hospital stay (odds ratio ( OR)=1.13, 95% confidence interval ( CI) 1.06 to 1.20, P<0.001), age ( OR=1.06, 95% CI 1.02 to 1.10, P=0.006), model for end-stage liver disease combined with sodium (MELD-Na) score ( OR=1.10, 95% CI 1.02 to 1.18, P=0.014), diabetes ( OR=1.25, 95% CI 1.07 to 1.96, P=0.043) and emergency gastroscopy ( OR=2.95, 95% CI 1.20 to 7.25, P=0.019) were independent risk factors for bacterial infection after gastroscopy in patients with cirrhosis and gastroesophageal varices. Based on the above risk factors, a nomogram prediction model was constructed. The results of ROC curve analysis showed that the area under the curve of the nomogram model for predicting bacterial infection after gastroscopy of gastroesophageal varices in cirrhosis was 0.82 (95% CI 0.73 to 0.90). The slope of the calibration curve was 0.98(95% CI 0.92 to 1.04), indicating that the predicted probability of the model was in good agreement with the actual probability. The results of Hosmer-Lemeshow test showed that the nomogram model fitted well ( χ2=6.35, P=0.415). The decision curve analysis showed that the clinical net benefit rate of the nomogram model was >0 when the threshold probability was 0.039 to 0.410. Conclusions:Older age, length of hospital stay, MELD-Na score, history of diabetes, and emergency gastroscopy are independent risk factors for bacterial infection after gastroscopy in patients with cirrhosis and gastroesophageal varices. The prediction model constructed in this study has a good predictive value for bacterial infection in such patients.

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