1.A case of late-onset glutaric acidemia type 1 presenting with hydrocephalus onset
Chinese Journal of Nervous and Mental Diseases 2025;51(8):486-489
A case of late-onset glutaric acidemia type 1(GA1)with hydrocephalus onset is reported.A 21-year-old female presented with acute hydrocephalus as the main clinical manifestation.Cranial MRI showed extensive abnormalities,including abnormal signals in cerebral white matter,bilateral basal ganglia and cerebellar hemisphere vermis,bilateral ventriculomegaly,and bilateral temporal pole arachnoid cysts.Blood and urine organic acid analysis detected elevated levels of glutaric acid and 3-hydroxyglutaric acid,while GCDH gene detection confirmed compound heterozygous mutations(S119L and R355H).The diagnosis of Glutaric acidemia type 1 was established and the symptoms improved following relevant treatment.In clinical practice,patients presenting with unexplained hydrocephalu and head MRI showing typical symmetrical lesions,including cerebellar damage should prompt further investigation with blood and urine organic acid screening to exclude metabolic diseases.
2.A case of late-onset glutaric acidemia type 1 presenting with hydrocephalus onset
Chinese Journal of Nervous and Mental Diseases 2025;51(8):486-489
A case of late-onset glutaric acidemia type 1(GA1)with hydrocephalus onset is reported.A 21-year-old female presented with acute hydrocephalus as the main clinical manifestation.Cranial MRI showed extensive abnormalities,including abnormal signals in cerebral white matter,bilateral basal ganglia and cerebellar hemisphere vermis,bilateral ventriculomegaly,and bilateral temporal pole arachnoid cysts.Blood and urine organic acid analysis detected elevated levels of glutaric acid and 3-hydroxyglutaric acid,while GCDH gene detection confirmed compound heterozygous mutations(S119L and R355H).The diagnosis of Glutaric acidemia type 1 was established and the symptoms improved following relevant treatment.In clinical practice,patients presenting with unexplained hydrocephalu and head MRI showing typical symmetrical lesions,including cerebellar damage should prompt further investigation with blood and urine organic acid screening to exclude metabolic diseases.
3.Comparison of the clinical efficacy between biopsy forceps polypectomy with submucosal injection and traditional biopsy forceps polypectomy for diminutive colorectal polyps
Qiuli WU ; Yuanli LI ; Chenwei ZHENG ; Xiangbo CHEN ; Qinwei XU
Chinese Journal of Digestive Endoscopy 2024;41(12):979-984
Objective:To explore the clinical efficacy of biopsy forceps polypectomy with submucosal injection for diminutive colorectal polyps.Methods:The patients with diminutive colorectal polyps (long diameter≤5 mm in size) who received polypectomy in Quanzhou First Hospital Affiliated to Fujian Medical University from May 2021 to May 2022 were prospectively recruited and divided into the observation group (biopsy forceps polypectomy with submucosal injection) and the control group (traditional biopsy forceps polypectomy). The location, morphology, long diameter, the complete polypectomy rate under direct vision, the time of resection and endoscopy withdrawal, pathological results, specimen collection rate, the incidence of complications and endoscopic treatment cost were analyzed. The clinical efficacy of the two methods were compared.Results:A total of 292 patients were included in the study, with 146 in the observation group and 146 in the control group. There were 258 polyps in the observation group and 252 polyps in the control group. The complete polypectomy rate was higher in the observation group than that in the control group [100.0% (258/258) VS 90.1% (227/252), χ2=26.915, P=0.001] with clear vision. The incidence of complications in the observation group was lower than that in the control group (1/146 VS 13/146, χ2=10.804, P=0.001) , along with the lower treatment cost (173.7±15.9 yuan VS 184.0±53.8 yuan, Z=-2.777, P=0.005). The resection time in the observation group was longer than that in the control group, but the difference was not statistically significant [10 (9,11) min VS 9 (9,11) min, Z=-0.528, P=0.597]. There was no significant difference in the polyp position, long diameter, morphology, pathological classification, or the specimen collection rate between the two groups ( P>0.05). Conclusion:Biopsy forceps polypectomy with submucosal injection is safe for diminutive colorectal polyps, and it demonstrates a higher complete polypectomy rate, lower complication rates, and reduced treatment costs compared with traditional biopsy forceps polypectomy. It is a new perspective for managing diminutive colorectal polyps.
4.Establishment and application of animal models for portal vein thrombosis
Zhuang LIU ; Jihong CHEN ; Xingshun QI ; Xiangbo XU ; Yuzheng ZHUGE
Journal of Clinical Hepatology 2024;40(1):29-32
Portal vein thrombosis (PVT) refers to thromboembolism that occurs in the extrahepatic main portal vein and/or intrahepatic portal vein branches. PVT is the result of the combined effect of multiple factors, but its pathogenesis remains unclear. Animal models are an important method for exploring the pathophysiological mechanism of PVT. Based on the different species of animals, this article reviews the existing animal models of PVT in terms of modeling methods, principles, advantages and disadvantages, and application.
5.Comparison of the clinical efficacy between biopsy forceps polypectomy with submucosal injection and traditional biopsy forceps polypectomy for diminutive colorectal polyps
Qiuli WU ; Yuanli LI ; Chenwei ZHENG ; Xiangbo CHEN ; Qinwei XU
Chinese Journal of Digestive Endoscopy 2024;41(12):979-984
Objective:To explore the clinical efficacy of biopsy forceps polypectomy with submucosal injection for diminutive colorectal polyps.Methods:The patients with diminutive colorectal polyps (long diameter≤5 mm in size) who received polypectomy in Quanzhou First Hospital Affiliated to Fujian Medical University from May 2021 to May 2022 were prospectively recruited and divided into the observation group (biopsy forceps polypectomy with submucosal injection) and the control group (traditional biopsy forceps polypectomy). The location, morphology, long diameter, the complete polypectomy rate under direct vision, the time of resection and endoscopy withdrawal, pathological results, specimen collection rate, the incidence of complications and endoscopic treatment cost were analyzed. The clinical efficacy of the two methods were compared.Results:A total of 292 patients were included in the study, with 146 in the observation group and 146 in the control group. There were 258 polyps in the observation group and 252 polyps in the control group. The complete polypectomy rate was higher in the observation group than that in the control group [100.0% (258/258) VS 90.1% (227/252), χ2=26.915, P=0.001] with clear vision. The incidence of complications in the observation group was lower than that in the control group (1/146 VS 13/146, χ2=10.804, P=0.001) , along with the lower treatment cost (173.7±15.9 yuan VS 184.0±53.8 yuan, Z=-2.777, P=0.005). The resection time in the observation group was longer than that in the control group, but the difference was not statistically significant [10 (9,11) min VS 9 (9,11) min, Z=-0.528, P=0.597]. There was no significant difference in the polyp position, long diameter, morphology, pathological classification, or the specimen collection rate between the two groups ( P>0.05). Conclusion:Biopsy forceps polypectomy with submucosal injection is safe for diminutive colorectal polyps, and it demonstrates a higher complete polypectomy rate, lower complication rates, and reduced treatment costs compared with traditional biopsy forceps polypectomy. It is a new perspective for managing diminutive colorectal polyps.
6.Application of C-type incision to endoscopic submucosal dissection for the treatment of rectal neuroendocrine tumors
Qiuli WU ; Huaiying SU ; Shuying LIN ; Rensong HE ; Xiangbo CHEN
Chinese Journal of Digestive Endoscopy 2023;40(1):53-57
Objective:To evaluate the clinical efficacy of C-type endoscopic submucosal dissection (C-ESD) for rectal neuroendocrine tumors (NEN).Methods:The retrospective analysis was performed on data of 55 patients who underwent ESD for rectal NEN at the Department of Endoscopy in Quanzhou First Hospital from January 2018 to July 2021. Patients were divided into the C-ESD group ( n=28) and the conventional ESD group ( n=27). The dissection time, the dissection speed, the number of submucosal injections, the enbloc resection rate, the curative resection rate and the rate of postoperative complications of the two groups were compared. Results:There were no statistically significant differences in basic information between the two groups ( P>0.05). The dissection time was 13.8±4.2 min in the C-ESD group and 19.9±3.9 min in the conventional ESD group with statistically significant difference ( t=5.649, P<0.001). The dissection speed in the C-ESD group was 0.08±0.04 cm 2/min, which was faster than 0.06±0.04 cm 2/min in the conventional ESD group ( t=2.218, P=0.031). The number of submucosal injections in the C-ESD group was less than that in the conventional ESD group [2 (1, 2) VS 3 (2, 3), Z=-8.701, P<0.001]. The lesions were enbloc resected in both groups. The curative resection rate in the C-ESD group was 100.0% (28/28) and 88.9% (24/27) in the conventional ESD group with statistically significant difference ( P=0.011). There were 7 cases of postoperative complications in the conventional ESD group, including 1 delayed bleeding, 5 delayed perforation and 1 muscularis propria injury, while no postoperative complications occurred in the C-ESD group ( P=0.004). Conclusion:C-ESD is a safe and effective treatment strategy for colorectal NEN, which can shorten the dissection time, improve the dissection speed, reduce the number of submucosal injections, improve the curative resection rate, and reduce complications.
7.A study of the clinical curative effect of nucleos(t)ide analogues treated to pegylated interferon-α add-on therapy in patients with chronic hepatitis B
Han LIANG ; Chen WANG ; Pengfei ZHU ; Qinglei ZENG ; Xiangbo HUANG ; Yanfeng PAN ; Yajie PAN ; Qiuyue HU ; Xia LUO ; Hui CHEN ; Zujiang YU ; Fengmin LU ; Jun LYU
Chinese Journal of Hepatology 2023;31(12):1297-1305
Objective:To investigate the hepatitis B surface antigen (HBsAg) clearance condition and its predictive factors after treatment with nucleos(t)ide analogues to pegylated interferon-α add-on therapy in patients with chronic hepatitis B.Methods:Patients with chronic hepatitis B who visited the First Affiliated Hospital of Zhengzhou University from 2018~2019 were prospectively enrolled. HBsAg≤ 1500 IU/mL, hepatitis B e antigen-negative, HBV DNA undetectable, received antiviral treatment with nucleos(t)ide analogues for at least one year, and pegylated interferon-α add-on therapy for 48 weeks were included. The primary endpoint of study was to determine the proportion of HBsAg clearance at 72 weeks. Concurrently, the predictive factors for HBsAg clearance were analyzed. Quantitative and qualitative data were analyzed using a t-test or non-parametric test and a Fisher's exact test.Results:A total of 38 cases were included in this study, of which 13 cases obtained HBsAg clearance at 48 weeks of therapy and another six cases obtained HBsAg clearance throughout the extended treatment period of 72 weeks, accounting for 50.00% of all enrolled patients. There was a significant difference in HBsAg dynamics between the HBsAg clearance group and the non-clearance group (P < 0.05). Univariate logistic regression analysis showed that patients' age, baseline, 12-and 24-week HBsAg levels, and early HBsAg reduction were predictive factors for HBsAg clearance at 72 weeks of treatment. Multivariate logistic regression analysis showed that age (OR = 1.311; P = 0.016; 95% confidence interval: 1.051~1.635) and HBsAg levels at 24 weeks of treatment (OR = 4.481; P = 0.004; 95% confidence interval: 1.634~12.290) were independent predictors for HBsAg clearance.Conclusion:Hepatitis B e antigen-negative, nucleos(t)ide analogue treated, HBsAg ≤ 1500 IU/mL, and HBV DNA undetectable, peg-IFNα add-on treatment for 48 weeks could promote HBsAg clearance in patients with chronic hepatitis B. Six of the sixteen cases (37.50%) who did not obtain HBsAg clearance at week 48 did so with the course of therapy extended to week 72. Hence, the optimal individualized treatment strategy should be customized according to the predictors rather than the fixed 48-week course. Age (≤ 38), baseline HBsAg level (≤2.86 log 10IU/ml), HBsAg level at 24 weeks (≤ 0.92 log 10IU/ml), and 12-week HBsAg decrease from baseline (≥ 0.67 log 10IU/ml) indicate that patients are highly likely to obtain HBsAg clearance at the 72 weeks of combination therapy, in which the combined indicator based on HBsAg level ≤0.92 log 10IU/ml at 24 weeks will identify 85.0% to 100.0% of patients with HBsAg clearance.
8.Significance of serum hepcidin in assessment of liver inflammation activity among patients with chronic hepatitis B
Yinfei HU ; Tao HE ; Yunxia FEI ; Xiangbo ZHANG ; Jie WANG ; Ling GONG ; Xiaoben PAN ; Gongyin CHEN
Journal of Preventive Medicine 2022;34(3):240-243
Objective:
To investigate the value of serum hepcidin in assessment of liver inflammation activity among patients with chronic hepatitis B ( CHB ), so as to provide insights into the assessment of liver inflammation activity among CHB patients.
Methods:
A total of 79 CHB patients who were admitted to the Affiliated Hospital of Hangzhou Normal University were selected as the experimental group, while 40 healthy volunteers were randomly sampled as controls. Subjects'demographic data, liver function tests and iron metabolism parameters were collected from medical records, and serum hepcidin was measured using enzyme-linked immunosorbent assay ( ELISA ). In addition, ultrasound-guided liver biopsy was performed in CHB patients, and mild and moderate-to-severe CHB were classified according to liver inflammation activity and degree of liver fibrosis. Serum hepcidin levels were compared between the experimental and control groups and between patients with mild and moderate-to-severe CHB. The value of serum hepcidin in assessment of liver inflammation activity was examined among CHB patients using the receiver operating characteristic ( ROC ) curve analysis.
Results:
Subjects in the experimental group included 54 men ( 68.35% ) and had a mean age of ( 39.06±10.67 ) years, while the controls included 24 men (60.00%) and had a mean age of ( 42.43±11.44 ) years. Lower hepcidin levels were measured in the experimental group than in the control group [( 11.70±5.64 ) vs. ( 17.82±3.63 ) μg/L; P<0.05 ]. There were 54 patients with mild CHB ( 68.35% ) and 25 cases with moderate-to-severe CHB ( 31.65% ), and lower hepcidin levels were detected in patients with moderate-to-severe CHB than in those with mild CHB [ ( 6.92±2.21 ) vs. ( 13.95±5.36 ) μg/L; P<0.05 ]. The area under the ROC curve, optimal cut-off, sensitivity and specificity of serum hepcidin were 0.903 ( P<0.05 ), 10.365 μg/L, 100.0% and 72.2% for assessment of moderate-to-severe CHB, respectively.
Conclusion
Serum hepcidin is feasible to evaluate the liver inflammatory activity among patients with CHB.
9.Comparison of the efficacy of different venous intubation in venous-arterial extracorporeal membrane oxygenation assisted lung transplantation
Xiaoliang QIAN ; Yue CHEN ; Li WEI ; Xiangbo JIA ; Lei XU ; Fudong TANG ; Jiaqiang ZHANG ; Peijun REN ; Jianchao LI ; Leiyi YANG ; Zhaoyun CHENG
Chinese Critical Care Medicine 2021;33(9):1080-1083
Objective:To compare the curative effects of different venous cannulas and drainage to improve patient's whole body oxygenation during the auxiliary process of venous-arterial extracorporeal membrane oxygenation (VA-ECMO) in lung transplantation.Methods:From December 2016 to December 2019, 12 patients who were assisted by VA-ECMO in one lung transplantation in People's Hospital of Henan Province were selected as the research objects. According to the number of side holes of venous cannulas, they were divided into two groups: one group with few side holes and other group with multiple side holes. The differences in blood gas indexes among the right radial artery, left radial artery, and right internal jugular vein before and after assistance were compared, and the assistance effect was evaluated.Results:The arterial partial pressure of oxygen (PaO 2) of blood gas indexes of the right and left radial arteries in both groups were significantly higher than that before assistance [mmHg (1 mmHg = 0.133 kPa): right and left radial artery in few side holes group: 79.5±4.2 vs. 48.3±3.8 and 88.1±3.5 vs. 48.3±3.8; right and left radial artery in multiple side holes group: 67.7±5.9 vs. 48.7±3.2 and 84.0±3.8 vs. 48.7±3.2, all P < 0.05]. The arterial partial pressure of carbon dioxide (PaCO 2) of blood gas index was significantly lower than that before assistance (mmHg: 44.2±2.6 vs. 71.7±4.4 for the right radial artery and 44.7±1.4 vs. 71.7±4.4 for the left radial artery in the group with few side holes; 46.2±2.1 vs. 71.2±3.5 for the right radial artery and 44.1±1.9 vs. 71.2±3.5 for the left radial artery in the group with multiple side holes, all P < 0.05). The partial pressure of oxygen in venous blood (PvO 2) of blood gas index of ECMO system in the group with few side holes was significantly lower than that of the multiport side holes group (mmHg: 56.4±3.2 vs. 88.7±1.5, P < 0.01), and the partial pressure of carbon dioxide in venous blood (PvCO 2) was significantly higher than that of multiport side holes group (mmHg: 63.6±3.7 vs. 44.2±1.7, P < 0.01). Conclusions:When VA-ECMO is used in lung transplantation, the superior vena cava blood flow can be fully drained by using intravenous cannula with few side holes. It can effectively improve the oxygenation of the upper body of lung transplant patients, avoid the dilemma of hypoxemia in the upper body and hyperxemia in the lower body, provide more effective assistance to patients undergoing single lung transplantation, and is more meaningful for improving the oxygenation status of the whole body in patients undergoing single lung transplantation.
10.Correlation analysis between serum ferritin level and liver damage in acute stage of dengue fever
Xiangbo ZHANG ; Yunxia FEI ; Tao HE ; Ling GAO ; Yuting ZHANG ; Yidan GAO ; Ge LI ; Jie WANG ; Qingjing RU ; Haoqiu WANG ; Gongying CHEN
Chinese Journal of Hepatology 2021;29(3):265-270
Objective:To investigate the correlation between serum ferritin (SF) level and liver damage in the acute stage of dengue fever.Methods:A retrospective study was conducted to analyze 171 cases diagnosed with dengue fever as dengue fever group and 130 healthy patients as control group in Hangzhou 3A grade hospital from July to December 2017. Clinical data, SF and liver function related indicators were collected from both groups: alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TBIL) to analyze the correlation between liver damage and SF in patients with dengue fever.Results:ALT, AST, and SF levels were significantly higher in the dengue fever group than those in the healthy control group ( Z = 11.553, 15.054 and 15.163, P < 0.001). SF levels were higher in the dengue fever combined with liver damage group than those without the liver damage group ( z = 6.930, P < 0.001). However, there was no statistically significant differences in age, gender, peak body temperature, and history of liver disease ( P > 0.05). In addition, Spearman’s correlation analysis showed that SF was positively correlated with ALT, AST, and TBIL ( r = 0.464, 0.531 and 0.315, P < 0.001). Among dengue patients with different SF levels, there were significant difference in ALT, AST levels and incidence of liver damage ( H = 14.240 and 17.584, χ2 = 49.547, P < 0.001). Patients with higher SF levels had higher ALT, AST levels and incidence of liver damage. Binary logistic regression analysis showed that hyperferritinemia (SF≥500 ng/ml) was the risk factor for dengue fever combined with liver damage ( OR = 8.120, P < 0.001). Furthermore, ROC curve analysis showed that the AUC for SF to judge dengue fever combined liver damage was 0.846 (95% CI: 0.785-0.908), and the sensitivity and specificity when the SF cut-off value was 1 506 ng/ml were 74.8% and 83.3%. Conclusion:There is a certain correlation between the SF level and the degree of liver damage in acute stage of dengue fever patients, and hyperferritinemia is a risk factor for dengue fever combined with liver damage.


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