1.Application of Thermal Tomography in Breast Cancer Screening
Kankan ZHAO ; Bo CHEN ; Wenliang LU ; Yao CHENG ; Hongmei ZHENG ; Xinhong WU ; Shengrong SUN ; Ziming HUANG
Cancer Research on Prevention and Treatment 2025;52(5):388-392
Objective To evaluate the effectiveness of thermal tomography in breast cancer (BC) screening. Methods We conducted a general population-based BC screening in three regions of Hubei Province (Xiantao, Hongan, and Yangxin Districts). Participants underwent a questionnaire-based interview for baseline data collection. They then received a physical examination, thermal tomography, and ultrasound from doctors and technicians. We compared the efficacies, including sensitivity, specificity, and false-positive rates, of ultrasound and thermal tomography in BC screening. Results A total of 59 712 eligible women were included in this screening program. The BI-RADS 1, 2, 3, 4, and 5 accordance rates between the two screening methods were
2.Preliminary study on the inhibitory effect of Opisthoplatia orientalis Burm. polypeptides on autophagy via the PINK1/Parkin signaling pathway in rat models of postherpetic neuralgia induced by resiniferatoxin
Zhengting WU ; Zhiyong LI ; Xuejun HUANG ; Ziming ZHAO ; Jianjun ZHANG
Chinese Journal of Dermatology 2025;58(8):751-758
Objective:To investigate the analgesic effect of Opisthoplatia orientalis Burm. polypeptides (OOBP) on postherpetic neuralgia (PHN) induced by resiniferatoxin (RTX) in rat models, and its effect on the phosphatase and tensin homologue deleted on chromosome ten (PTEN) -induced kinase 1/Parkin (PINK1/Parkin) signaling pathway. Methods:Thirty-two special pathogen-free rats were randomly divided into 2 groups: a blank control group ( n = 8) receiving intraperitoneal injections of physiological saline (0.20 mg/kg) , and a model group ( n = 24) receiving intraperitoneal injections of RTX (0.20 mg/kg) to establish the PHN rat model. The rats' paw withdrawal mechanical threshold (PWMT) was measured on days 1, 4, 7, and 10 after RTX injections. After 10 days of RTX treatment, rat models were randomly assigned to 3 subgroups: PHN group, OOBP group, and gabapentin group, with 8 rats in each group. The OOBP group and gabapentin group were gavaged with OOBP (equivalent to 0.9 g raw drug per kg) and gabapentin (27 mg/kg) respectively, while the PHN group and control group were gavaged with physiological saline. All treatments lasted for 3 weeks, during which PWMT was continuously monitored. One hour after the final dose, rats were sacrificed, and spinal cord tissues and serum samples were collected. Hematoxylin-eosin (HE) staining was performed to observe spinal pathological changes, enzyme-linked immunosorbent assay (ELISA) to detect serum levels of interleukin-10 (IL-10) , tumor necrosis factor-α (TNF-α) , β-endorphin (β-EP) , and calcitonin gene-related peptide (CGRP) , and Western blot analysis to determine the expression of PINK1, Parkin, and ubiquitin-binding protein P62 in rat spinal cord tissues. The entropy weight method was applied to comprehensively evaluate the effect of OOBP on the above cytokines, proteins and other pharmacodynamic indicators in rat models of PHN. Results:From day 1 to day 10 after modeling, PWMT values in the model group were significantly lower than those in the blank control group (all P < 0.05) , and also significantly lower than baseline values prior to modeling (all P < 0.05) . Histopathological analysis of rat spinal cord tissues showed less pathological changes (such as Nissl body swelling and neuronal necrosis) but more normal Nissl bodies in both the gabapentin group and OOBP group compared with the PHN group. ELISA revealed significantly decreased serum levels of TNF-α and CGRP but significantly increased serum levels of β-EP and IL-10 in the OOBP group compared with the PHN group (all P < 0.05) . Western blot analysis showed that expression levels of PINK1 and Parkin were significantly lower in the gabapentin group (0.441 ± 0.061, 0.597 ± 0.180, respectively) and the OOBP group (0.666 ± 0.117, 0.481 ± 0.073, respectively) than in the PHN group (1.033 ± 0.085, 1.088 ± 0.040, respectively, all P < 0.05) ; in contrast, the P62 expression significantly increased in the gabapentin group (0.810 ± 0.086) and OOBP group (0.902 ± 0.153) compared with the PHN group (0.543 ± 0.082, both P < 0.05) . The entropy weight analysis showed that the comprehensive scores were 0.222 and 0.229 in the OOBP group and the gabapentin group respectively, suggesting a greater overall therapeutic effect of OOBP. Conclusion:OOBP may exert analgesic effects in rat models of PHN by downregulating the expression of inflammatory factors and pain-related factors and modulating the PINK1/Parkin signaling pathway, thereby inhibiting mitochondrial autophagy in spinal neurons and reducing inflammatory responses.
3.Study on the efficacy and safety of Xuezhikang combined with PCSK9 inhibitor in the treatment of coronary heart disease
Ziming LIU ; Xiaozai HE ; Hong ZENG ; Jing WANG ; Yuan HUANG ; Zhitang CHANG
Chongqing Medicine 2025;54(7):1560-1565
Objective To investigate the lipid-lowering efficacy and safety of Xuezhikang combined with PCSK9 inhibitor in patients with coronary heart disease.Methods A total of 102 patients with coronary heart disease hospitalized in Jiangxi Provincial People's Hospital from June 2023 to November 2024 were enrolled in this study and randomly divided into a control group(50 cases)and an experimental group(52 cases).The control group received basic medication for secondary prevention of coronary heart disease,while the experi-mental group received Xuezhikang combined with PCSK9 inhibitor in addition to the basic medication.After 6 months of treatment,blood lipid indicators,liver function indicators,kidney function indicators,incidence of major adverse cardiovascular events(MACE),and incidence of adverse drug reactions were observed.Results After treatment,LDL-C,TC,AST,and ALT levels decreased in both groups compared with before treatment.The experimental group showed significantly lower levels of these indicators than the control group,with statistically significant differences(P<0.05).Both groups had one case of adverse drug reaction each,showing no statistically significant difference(P>0.05).The MACE incidence was higher in the control group than in the experimental group(18.0%vs.3.8%,P<0.05).The lipid goal achievement rate was low-er in the control group than in the experimental group(44.0%vs.73.1%,P<0.05).Conclusion The com-bination of Xuezhikang and PCSK9 inhibitors demonstrates definite clinical efficacy in coronary heart disease patients,reduces MACE risk,and improves lipid goal achievement rates.
4.Preliminary study on the inhibitory effect of Opisthoplatia orientalis Burm. polypeptides on autophagy via the PINK1/Parkin signaling pathway in rat models of postherpetic neuralgia induced by resiniferatoxin
Zhengting WU ; Zhiyong LI ; Xuejun HUANG ; Ziming ZHAO ; Jianjun ZHANG
Chinese Journal of Dermatology 2025;58(8):751-758
Objective:To investigate the analgesic effect of Opisthoplatia orientalis Burm. polypeptides (OOBP) on postherpetic neuralgia (PHN) induced by resiniferatoxin (RTX) in rat models, and its effect on the phosphatase and tensin homologue deleted on chromosome ten (PTEN) -induced kinase 1/Parkin (PINK1/Parkin) signaling pathway. Methods:Thirty-two special pathogen-free rats were randomly divided into 2 groups: a blank control group ( n = 8) receiving intraperitoneal injections of physiological saline (0.20 mg/kg) , and a model group ( n = 24) receiving intraperitoneal injections of RTX (0.20 mg/kg) to establish the PHN rat model. The rats' paw withdrawal mechanical threshold (PWMT) was measured on days 1, 4, 7, and 10 after RTX injections. After 10 days of RTX treatment, rat models were randomly assigned to 3 subgroups: PHN group, OOBP group, and gabapentin group, with 8 rats in each group. The OOBP group and gabapentin group were gavaged with OOBP (equivalent to 0.9 g raw drug per kg) and gabapentin (27 mg/kg) respectively, while the PHN group and control group were gavaged with physiological saline. All treatments lasted for 3 weeks, during which PWMT was continuously monitored. One hour after the final dose, rats were sacrificed, and spinal cord tissues and serum samples were collected. Hematoxylin-eosin (HE) staining was performed to observe spinal pathological changes, enzyme-linked immunosorbent assay (ELISA) to detect serum levels of interleukin-10 (IL-10) , tumor necrosis factor-α (TNF-α) , β-endorphin (β-EP) , and calcitonin gene-related peptide (CGRP) , and Western blot analysis to determine the expression of PINK1, Parkin, and ubiquitin-binding protein P62 in rat spinal cord tissues. The entropy weight method was applied to comprehensively evaluate the effect of OOBP on the above cytokines, proteins and other pharmacodynamic indicators in rat models of PHN. Results:From day 1 to day 10 after modeling, PWMT values in the model group were significantly lower than those in the blank control group (all P < 0.05) , and also significantly lower than baseline values prior to modeling (all P < 0.05) . Histopathological analysis of rat spinal cord tissues showed less pathological changes (such as Nissl body swelling and neuronal necrosis) but more normal Nissl bodies in both the gabapentin group and OOBP group compared with the PHN group. ELISA revealed significantly decreased serum levels of TNF-α and CGRP but significantly increased serum levels of β-EP and IL-10 in the OOBP group compared with the PHN group (all P < 0.05) . Western blot analysis showed that expression levels of PINK1 and Parkin were significantly lower in the gabapentin group (0.441 ± 0.061, 0.597 ± 0.180, respectively) and the OOBP group (0.666 ± 0.117, 0.481 ± 0.073, respectively) than in the PHN group (1.033 ± 0.085, 1.088 ± 0.040, respectively, all P < 0.05) ; in contrast, the P62 expression significantly increased in the gabapentin group (0.810 ± 0.086) and OOBP group (0.902 ± 0.153) compared with the PHN group (0.543 ± 0.082, both P < 0.05) . The entropy weight analysis showed that the comprehensive scores were 0.222 and 0.229 in the OOBP group and the gabapentin group respectively, suggesting a greater overall therapeutic effect of OOBP. Conclusion:OOBP may exert analgesic effects in rat models of PHN by downregulating the expression of inflammatory factors and pain-related factors and modulating the PINK1/Parkin signaling pathway, thereby inhibiting mitochondrial autophagy in spinal neurons and reducing inflammatory responses.
5.Effect of NOD-like receptor family pyrin domain containing 3 knockdown on a mouse model of nonalcoholic steatohepatitis induced by high-fat high-carbohydrate diet
Qian HUANG ; Zhuoyuan WANG ; Ziming AN ; Xin XIN ; Qinmei SUN ; Xiaojun GOU ; Yiyang HU ; Qin FENG
Journal of Clinical Hepatology 2024;40(5):952-960
Objective To investigate the effect of NOD-like receptor family pyrin domain containing 3(NLRP3)knockdown on a mouse model of nonalcoholic steatohepatitis(NASH)induced by high-fat high-carbohydrate(HFHC)diet.Methods A total of 44 mice were randomly divided into normal diet group(CON group)with 20 mice and HFHC group with 24 mice.At the end of week 14 of modeling,4 mice were randomly selected from the HFHC group for the pre-experiment of adeno-associated virus(AAV)by tail vein injection,and NLRP3 knockdown was verified after 4 weeks.After NLRP3 knockdown was verified at the end of week 18,the remaining 40 mice were given a single tail vein injection of AAV,and then they were divided into CON+NLRP3 knockdown negative control group(CON+NLRP3-NC group),CON+NLRP3 knockdown group(CON+NLRP3-KD group),HFHC+NLRP3-NC group,and HFHC+NLRP3-KD group,with 10 mice in each group.At the end of week 24,the activation of NLRP3 inflammasome was observed;related indicators were measured,including body weight,liver weight,liver index,and glucose metabolism(fasting blood glucose,fasting insulin,and Homeostasis Model Assessment of Insulin Resistance[HOMA-IR]index);the indicators of liver lipid content(liver triglyceride[TG]and oil red O staining),liver inflammation(serum alanine aminotransferase[ALT]activity,HE staining,and inflammation-related genes),and liver fibrosis(Sirius Red staining and fibrosis-related genes)were measured.A one-way analysis of variance was used for comparison of continuous data between multiple groups,and the least significant difference t-test was used for further comparison between two groups.Results Compared with the CON+NLRP3-NC group based on the results of Western Blot,the HFHC+NLRP3-NC group had significant increases in the protein expression levels of NLRP3,pro-Caspase1,Caspase1,ASC,and IL-1β,while the HFHC+NLRP3-KD group had significant reductions in these levels(all P<0.05).The HFHC+NLRP3-NC group showed varying degrees of increase in body weight,liver weight,liver index,and glucose metabolism indicators,while the HFHC+NLRP3-KD group showed significant improvements in these indicators(all P<0.05).As for hepatic fat deposition,compared with the CON+NLRP3-NC group,the HFHC+NLRP3-NC group had a significant increase in liver TG,with a large number of red lipid droplets shown by oil red O staining,and the HFHC+NLRP3-KD group had significant reductions in liver TG and the number of lipid droplets in the liver(all P<0.01).In terms of liver inflammation,compared with the CON+NLRP3-NC group,the HFHC+NLRP3-NC group had significant increases in serum ALT,NAFLD activity score,and inflammation-related genes,while the HFHC+NLRP3-KD group had significant reductions in these indicators(all P<0.01).As for liver fibrosis,compared with the CON+NLRP3-NC group,the HFHC+NLRP3-NC group had significant increases in collagen fiber area and fibrosis-related genes,and the HFHC+NLRP3-KD group had significant reductions in fibrosis-related genes(all P<0.05)and a tendency of reduction in collagen fiber area(P>0.05).Conclusion NLRP3 knockdown can significantly improve hepatic fat deposition and inflammation in a mouse model of HFHC-induced NASH.
6.Visualization analysis of traditional Chinese medicine and pharmacy combined with TACE in the treatment of hepatocellular carcinoma based on CiteSpace
Ziming LIU ; Ming DAI ; Jingjing HUANG ; Jianlin LYU ; Wenfu ZHANG
China Modern Doctor 2024;62(1):1-6
Objective To analyze the current status,hotspots,and trends in the research field of traditional Chinese medicine and pharmacy combined with transcatheter arterial chemoembolization(TACE)for the treatment of hepatocellular carcinoma.Methods The relevant literatures on traditional Chinese medicine and pharmacy combined with TACE treatment for hepatocellular carcinoma collected by China National Knowledge Infrastructure from January 1994 to December 2022,and use CiteSpace 6.1.R6 software to analyze its publication volume,authors,research institutions,and key words.Results This study included a total of 686 articles.The publication volume showed a fluctuating upward trend from 1994 to 2015,but it had decreased since 2016,indicating that further breakthrough research was needed in this field.The communication between authors and research institutions needed to be strengthened,with low levels of cross institutional and cross regional cooperation and uneven geographical distribution.Cooperation should be strengthened.High frequency key words included hepatocellular carcinoma,Chinese materia medica,interventional therapy,therapeutic,etc.,resulting in 9 key word clustering labels.Conclusion Currently,there is a lack of experimental research and related mechanism research,the future research hotspots of traditional Chinese medicine and pharmacy combined with TACE treatment for hepatocellular carcinoma will focus more on traditional Chinese medicine and pharmacy,interventional therapy,clinical observation,and cell apoptosis,which provides new ideas for researchers conducting related research in the future.
7.4D bioprinting technology and its application in cardiovascular tissue engineering.
Yuxiang HUANG ; Qi LI ; Wu YE ; Ziming HUANG ; Hanxiao QIN ; Ming ZHAO ; Ming LIU
Chinese Journal of Biotechnology 2023;39(10):4046-4056
3D bioprinting technology is a rapidly developing technique that employs bioinks containing biological materials and living cells to construct biomedical products. However, 3D-printed tissues are static, while human tissues are in real-time dynamic states that can change in morphology and performance. To improve the compatibility between in vitro and in vivo environments, an in vitro tissue engineering technique that simulates this dynamic process is required. The concept of 4D printing, which combines "3D printing + time" provides a new approach to achieving this complex technique. 4D printing involves applying one or more smart materials that respond to stimuli, enabling them to change their shape, performance, and function under the corresponding stimulus to meet various needs. This article focuses on the latest research progress and potential application areas of 4D printing technology in the cardiovascular system, providing a theoretical and practical reference for the development of this technology.
Humans
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Tissue Engineering/methods*
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Bioprinting/methods*
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Printing, Three-Dimensional
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Cardiovascular System
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Tissue Scaffolds
8.Clinical efficacy of radical resection of rectal cancer with different surgical approaches and analysis of influencing factors of postoperative complications: a report of 3 418 cases
Qingchao TANG ; Huan XIONG ; Yuliuming WANG ; Hanqing HU ; Ziming YUAN ; Yinghu JIN ; Lei YU ; Rui HUANG ; Ming LIU ; Guiyu WANG ; Xishan WANG
Chinese Journal of Digestive Surgery 2023;22(1):131-143
Objective:To investigate the clinical efficacy of radical resection of rectal cancer with different surgical approaches and influencing factors of postoperative complications.Methods:The retrospective study was conducted. The clinicopathological data of 3 418 patients who underwent radical resection of rectal cancer in the Second Affiliated Hospital of Harbin Medical University from July 2011 to September 2020 were collected. There were 2 060 males and 1 358 females, aged (61±11)years. Patients meeting the requirements of radical resection and surgical indications underwent surgeries choosing from open radical colorectal cancer surgery, laparoscopic radical colorectal cancer surgery, and natural orifice specimen extraction surgery (NOSES). Observation indicators: (1) intraoperative and postoperative conditions of patients undergoing different surgical approaches; (2) comparison of preoperative clinical characteristics in patients undergoing different surgical approaches; (3) comparison of postoperative histopathological characteristics in patients undergoing different surgical approaches; (4) postoperative complications of patients undergoing different surgical approaches; (5) analysis of influencing factors of postoperative complications. Measurement data with normal distribution were represented as Mean± SD. Measurement data with skewed distribution were represented as M(range), and comparisons between groups was analyzed using the Kruskal-Wallis rank test. Comparison of ordinal data was analyzed using the non-parameter rank sum test. Count data were described as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test. Multivariate analysis was conducted using the Logistic regression model. Results:(1) Intraoperative and postoperative conditions of patients undergoing different surgical approaches. Of the 3 418 patients, 1 978 cases underwent open radical colorectal cancer sur-gery, 1 028 cases underwent laparoscopic radical colorectal cancer surgery and 412 cases underwent NOSES, respectively. The operation time, volume of intraoperative blood loss, cases with permanent stoma, preventive stoma or without fistula, time to postoperative first flatus, time to postoperative liquid food intake, cases transferred to intensive care unit after surgery, duration of postoperative hospital stay were 145(range, 55?460)minutes, 100(range, 30?1 000)mL, 435, 88, 1 455, 72(range, 10?220)hours, 96(range, 16?296)hours, 158, 10(range, 6?60)days, respectively, in patients undergoing open radical colorectal cancer surgery. The above indicators were 175(range, 80?450)minutes, 50(range, 10?800)mL, 172, 112, 744, 48(range, 14?120)hours, 72(range, 38?140)hours, 17, 9(range, 4?40)days, respectively, in patients undergoing laparoscopic radical colorectal cancer surgery and 180(range, 80?400)minutes, 30(range, 5?500)mL, 0, 45, 367, 48 (range, 14?144)hours, 72(range, 15?148)hours, 1, 6(range, 3?30)days, respectively, in patients undergoing NOSES. There were significant differences in the above indicators among the patients undergoing different surgical approaches ( H=291.38, 518.56, χ2=153.82, H=408.86, 282.97, χ2=78.66, H=332.30, P<0.05). (2) Com-parison of preoperative clinical characteristics in patients undergoing different surgical approaches. The gender, age, body mass index, cases with diabetes, cases with hypertension, cases with coronary heart disease, cases with anemia, cases with hypoproteinemia, cases with intestinal obstruction, tumor location, preoperative carcinoembryonic antigen, preoperative CA19-9 showed significant differences among patients undergoing open radical colorectal cancer surgery, laparoscopic radical colorectal cancer surgery and NOSES ( P<0.05). (3) Comparison of postoperative histopathological characteris-tics in patients undergoing different surgical approaches. Tumor histological type, tumor differentiation degree, tumor diameter, number of lymph node detected, nerve invasion, vascular invasion, lymph node invasion, tumor T staging, tumor N staging, tumor M staging, tumor TNM staging showed significant differences among patients undergoing open radical colorectal cancer surgery, laparos-copic radical colorectal cancer surgery and NOSES ( P<0.05). (4) Postoperative complications of patients undergoing different surgical approaches. Cases with postoperative complications as anastomotic leakage, abdominal infection, intestinal obstruction, anastomotic bleeding, incision complications, pulmonary infection, other complications were 52, 21, 309, 8, 130, 51, 59, respectively, in patients undergoing open radical colorectal cancer surgery. The above indicators were 33, 17, 75, 3, 45, 58, 9, respectively, in patients undergoing laparoscopic radical colorectal cancer surgery and 13, 4, 8, 0, 11, 10, 15, respectively, in patients undergoing NOSES. There were significant differences in the intes-tinal obstruction, incision complications, pulmonary infection, other complications among patients undergoing different surgical approaches ( χ2=122.56, 13.33, 20.44, 15.59, P<0.05) and there was no significant difference in the anastomotic leakage, abdominal infection, anastomotic bleeding among patients undergoing different surgical approaches ( χ2=0.96, 2.21, 3.08, P>0.05). (5) Analysis of influencing factors of postoperative complications. ① Analysis of influencing factors of intestinal obstruction in patients with radical resection of rectal cancer. Age as 20?39 years and 40?59 years, surgical approach as laparoscopic radical colorectal cancer surgery and NOSES were independent protective factors of intestinal obstruction in patients with radical resection of rectal cancer ( odds ratio=0.46, 0.59, 0.43, 0.13, 95% confidence interval as 0.21?1.00, 0.36?0.96, 0.33?0.56, 0.06?0.27, P<0.05). ② Analysis of influencing factors of incision complications in patients with radical resection of rectal cancer. Body mass index as 24.0?26.9 kg/m 2, surgical approach as laparoscopic radical colorectal cancer surgery and NOSES were independent protective factors of incision complications in patients with radical resection of rectal cancer ( odds ratio=0.24, 0.63, 0.46, 95% confidence interval as 0.11?0.51, 0.44?0.89, 0.24?0.87, P<0.05). ③ Analysis of influencing factors of pulmonary infection in patients with radical resection of rectal cancer. The surgical approach as laparoscopic radical colorectal cancer surgery was an independent risk factor of pulmonary infection in patients with radical resection of rectal cancer ( odds ratio=2.15, 95% confidence interval as 1.46?3.18, P<0.05), and tumor TNM staging as 0?Ⅰ stage was an independent protective factor ( odds ratio=0.10, 95% confidence interval as 0.01?0.88, P<0.05). ④ Analysis of influencing factors of other complica-tions in patients with radical resection of rectal cancer. Age as 20?39 years, 40?59 years, 60?79 years, body mass index as <18.5 kg/m 2, 18.5?23.9 kg/m 2, 24.0?26.9 kg/m 2, 27.0?29.9 kg/m 2, surgical approach as laparoscopic radical colorectal cancer surgery were independent protective factors of other complications in patients with radical resection of rectal cancer ( odds ratio=0.10, 0.29, 0.37, 0.08, 0.22, 0.35, 0.32, 0.29, 95% confidence interval as 0.01?0.81, 0.13?0.64, 0.17?0.78, 0.02?0.40, 0.09?0.52, 0.15?0.83, 0.12?0.89, 0.14?0.59, P<0.05). Conclusions:Compared to laparoscopic radical colorectal cancer surgery and NOSES, open radical colorectal cancer surgery has wide indication and short operation time, but less perioperative treatment effect. Laparoscopic radical colorectal cancer surgery and NOSES can achieve better surgical result and less postoperative complication when patients meeting surgical indications.
9.Cornelia de Lange syndrome with recurrent seizures and SMC1A gene c. 2923C > T mutation: a case report and literature review
Fangmin ZHANG ; Ziming HAN ; Xiaoyue WANG ; Dean ZHAO ; Meigui HAN ; Qian HUANG ; Xiaojuan ZHU ; Peipei LIU ; Lingchao WANG
Chinese Journal of Applied Clinical Pediatrics 2022;37(2):143-145
Objective:To explore the characteristics, clinical manifestations and gene mutation types of Cornelia de Lange syndrome (CdLs), and to improve the understanding of the disease.Methods:Clinical data and gene test results of a pediatric case of CdLs diagnosed in the First Affiliated Hospital of Xinxiang Medical University in August 2019 were analyzed retrospectively.Results:A female patient with 2 years and 8 months old presented a special appearance with a low and flat nose, a wide eye distance, audition ears, a downward inclination of the mouth corner, a high arch of the jaw and a small jaw deformity, who had recurrent seizures, speech and mental retardation.The result of gene test showed the mutation of SMC1A gene c. 2923C > T, and thus the patient was diagnosed as type 2 CdLs. Conclusions:CdLs is a rare genetic metabolic disease with special facial features and physical signs.There is only one case of CdLs with gene mutation of SMC1A in China through literature review.The mutation of SMC1A gene c. 2923C>T in CdLs cases has not been reported at home and abroad, which expands the variation spectrum of the SMC1A gene.
10.Influence of three different nucleic acid extraction methods on 2019-nCoV
Huicong ZHOU ; Ziming WANG ; Yue HU ; Jie ZHANG ; Yanting ZHU ; Mei HUANG ; Xiaoling YAN ; Wei YU
Chinese Journal of Laboratory Medicine 2022;45(4):393-398
Objective:To study the difference in the extraction efficiency of the novel coronavirus (2019-nCoV) nucleic acid by using magnetic beads method, centrifugal column method and one-step method.Methods:On March 5, 2021, 10 throat swabs were collected from the staff working in the nucleic acid sampling room in Department of Clinical Laboratory, Affiliated Taikang Xianlin Drum Tower Hospital, Medical School of Nanjing University. The positive quality control samples were mixed into the swabs and used as mock positive samples. The RNA was extracted from simulated positive samples and their diluted samples by using magnetic beads method, centrifugation column method and one-step method. The purity ( A260/ A280 ratio) and concentration of the nucleic acid obtained were measured by micro-uv photometry, and fluorescence quantitative PCR was performed to compare the CT value and extraction efficiency. The three methods were used to extract the simulated weak positive specimens and to compare the difference of CT values after amplification. The measurement data that followed normal distribution were expressed by xˉ±s, the t test was used for comparing in the same group, and single factor analysis of variance was used for comparing among multiple groups. A P value smaller than 0.05 indicated a significant difference. Results:2019-nCoV nucleic acid extracted by magnetic bead method, centrifugal column method and one-step method could amplify positive results. There was no significant difference between the CT value of RNA amplification extracted by magnetic bead method and one-step method ( t=? 0.995 , P=0.376). The CT values of orf1ab gene amplified by centrifugal column method, magnetic bead method and one-step method were 29.28±0.06, 30.82±0.14 and 29.79±0.01 respectively ( F=11.196 , P=0.041). The CT values of E gene were 28.52±0.40, 27.33±0.78 and 27.38±0.13 respectively ( F=3.407, P=0.169). The CT values of N gene were 28.61±1.02, 27.24±0.20 and 27.25±0.47, respectively ( F=2.880 , P=0.020). The CT values of human genes extracted by centrifugal column method, magnetic bead method and one-step method were 19.68±0.36, 20.14±0.06 and 20.58±0.49 respectively, which was statistically significant ( F=4.904, P=0.048). The CT value of amplified human gene was affected by the dilution of human samples twice. The CT value of undiluted samples was smaller than that of diluted samples twice, with a difference of 2.95±0.22, which was statistically significant ( t=?3.025, P=0.039). The extraction time of one-step method, magnetic bead method and centrifugal column method were (15.00±1.50), (20.00±1.50) and (40.00±5.5) min respectively, and the difference was statistically significant ( F=688 , P=0.027). Conclusions:Magnetic bead method, centrifugal column method and one-step method can be used to extract 2019-nCoV nucleic acid, for the centrifugal column method has a higher extraction efficiency than the magnetic bead method and the one-step method. The one-step method is the fastest, followed by the magnetic bead method and the centrifugal column method. A large number of clinical samples can be processed using the magnetic bead method and one-step method. One-step rapid nucleic acid test can also be performed on samples from emergency and fever clinics. It is not recommended to dilute specimens for testing. In order to improve the detection rate, extracting RNA from highly suspected samples with negative initial nucleic acid test by centrifugal column method is suggested.

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