1.Newborn screening for citrin deficiency by tandem mass spectrometry and analysis of SLC25A13 gene mutation spectrum in Maoming
Bilv LYU ; Hailing CHEN ; Linyan WEI ; Chunhong WU ; Jinsheng LAN
China Modern Doctor 2025;63(28):13-16
Objective To explore the incidence and prognosis of citrin deficiency in Maoming,and to understand mutation types and frequency of SLC25A13 gene.Methods A total of 88 322 newborns born in Maoming from April 2022 to January 2025 were selected as research subjects.These specimens were screened using tandem mass spectrometry.Newborns with elevated citrulline levels or suspected clinical symptoms of citrin deficiency were recalled immediately for further genetic confirmation,and treated confirmed cases were followed up.Results Among 88 322 newborns,53 cases were positive for citrulline by tandem mass spectrometry,43 cases were recalled with positive initial screening,23 cases were still positive for citrulline after re-examination.Finally,1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)was clinically diagnosed,and 10 cases were diagnosed with SLC25A13 gene,of which 1 case was false negative.Therefore,the total positive predictive value was 18.87%(10/53),and the prevalence rate of NICCD in Maoming was 1/8029(11/88 322).A total of 5 mutation sites were detected in 10 neonates with NICCD gene diagnosis,and the top 3 mutation sites in the order of proportion were:c.852-855delTATG accounted for 65.0%(13/20),c.615+5G>A accounted for 15.0%(3/20),IVS16ins3kb accounted for 10.0%(2/20).Among the 11 cases,1 case refused treatment and died of liver failure,while the remaining 10 cases were developing well after standardized treatment.Conclusion The incidence of neonatal citrin deficiency in Maoming is significantly higher than in other areas.Tandem mass spectrometry enables rapid early detection of citrin deficiency,though false-negative results may occur in individual cases.Combining genetic sequencing can improve diagnostic accuracy,and achieve precise management of inherited metabolic diseases.
2.Exploration of the practice of establishing a target management system for department heads in large public hospitals
Lingying SU ; Litao ZHOU ; Hong ZHANG ; Jinsheng WU
Modern Hospital 2025;25(9):1375-1377
With the deepening of the reform of the medical and health system,the high-quality development of public hospitals has put forward higher requirements for the modern management system.This article takes a top-tier hospital in Huai'an as an example to explore the practical path and effectiveness of constructing a target management system for department directors in large public hospitals.The research achieved a comprehensive improvement in management efficiency by building a multi-di-mensional discipline evaluation system,promoting the construction of key specialties,creating a'trinity'medical quality man-agement system,strengthening the construction of quality control centers,and combining personalized target management respon-sibility agreements with the selection mechanism for outstanding department directors.Over the three years of implementation,key indicators of the hospital,such as the number of key specialties,CMI value,proportion of fourth-level surgeries,and average length of stay,have significantly improved.The research shows that this system,through the synergistic effect of goal orientation and performance incentives,effectively promotes the coordinated development of discipline construction,medical quality,and op-erational efficiency,providing a reference management paradigm for public hospitals to transition from scale expansion to connota-tion enhancement.
3.Exploration of the practice of establishing a target management system for department heads in large public hospitals
Lingying SU ; Litao ZHOU ; Hong ZHANG ; Jinsheng WU
Modern Hospital 2025;25(9):1375-1377
With the deepening of the reform of the medical and health system,the high-quality development of public hospitals has put forward higher requirements for the modern management system.This article takes a top-tier hospital in Huai'an as an example to explore the practical path and effectiveness of constructing a target management system for department directors in large public hospitals.The research achieved a comprehensive improvement in management efficiency by building a multi-di-mensional discipline evaluation system,promoting the construction of key specialties,creating a'trinity'medical quality man-agement system,strengthening the construction of quality control centers,and combining personalized target management respon-sibility agreements with the selection mechanism for outstanding department directors.Over the three years of implementation,key indicators of the hospital,such as the number of key specialties,CMI value,proportion of fourth-level surgeries,and average length of stay,have significantly improved.The research shows that this system,through the synergistic effect of goal orientation and performance incentives,effectively promotes the coordinated development of discipline construction,medical quality,and op-erational efficiency,providing a reference management paradigm for public hospitals to transition from scale expansion to connota-tion enhancement.
4.Newborn screening for citrin deficiency by tandem mass spectrometry and analysis of SLC25A13 gene mutation spectrum in Maoming
Bilv LYU ; Hailing CHEN ; Linyan WEI ; Chunhong WU ; Jinsheng LAN
China Modern Doctor 2025;63(28):13-16
Objective To explore the incidence and prognosis of citrin deficiency in Maoming,and to understand mutation types and frequency of SLC25A13 gene.Methods A total of 88 322 newborns born in Maoming from April 2022 to January 2025 were selected as research subjects.These specimens were screened using tandem mass spectrometry.Newborns with elevated citrulline levels or suspected clinical symptoms of citrin deficiency were recalled immediately for further genetic confirmation,and treated confirmed cases were followed up.Results Among 88 322 newborns,53 cases were positive for citrulline by tandem mass spectrometry,43 cases were recalled with positive initial screening,23 cases were still positive for citrulline after re-examination.Finally,1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)was clinically diagnosed,and 10 cases were diagnosed with SLC25A13 gene,of which 1 case was false negative.Therefore,the total positive predictive value was 18.87%(10/53),and the prevalence rate of NICCD in Maoming was 1/8029(11/88 322).A total of 5 mutation sites were detected in 10 neonates with NICCD gene diagnosis,and the top 3 mutation sites in the order of proportion were:c.852-855delTATG accounted for 65.0%(13/20),c.615+5G>A accounted for 15.0%(3/20),IVS16ins3kb accounted for 10.0%(2/20).Among the 11 cases,1 case refused treatment and died of liver failure,while the remaining 10 cases were developing well after standardized treatment.Conclusion The incidence of neonatal citrin deficiency in Maoming is significantly higher than in other areas.Tandem mass spectrometry enables rapid early detection of citrin deficiency,though false-negative results may occur in individual cases.Combining genetic sequencing can improve diagnostic accuracy,and achieve precise management of inherited metabolic diseases.
5.Effect of laparoscopic sleeve gastrectomy on simple obesity patients with different body mass index
Guangnian JI ; Chuanrong ZHU ; Shaochuang WANG ; Lingling ZHOU ; Jinsheng WU
International Journal of Surgery 2024;51(5):319-324
Objective:To investigate the effect of laparoscopic sleeve gastrectomy (LSG) on weight loss in patients with different degrees of obesity.Methods:A retrospective analysis was performed on 152 patients with obesity who underwent LSG in Affiliated Huaian No.1 People′s Hospital of Nanjing Medical University from March 2019 to May 2022, including 119 females (78.3%) and 33 males (21.7%), with a mean age of (30.9±7.9) years (ranging from 18 to 58 years). The body mass index (BMI) was 30.0-34.9 kg/m 2, 35.0-39.9 kg/m 2 and ≥40.0 kg/m 2 in Ⅰ, Ⅱ and Ⅲ objesity groups respectively ( n=38, 57, 57). The body measurements, biochemical indexes, percentage of excess weight loss (%EWL) and percentage of total weight loss (%TWL) were collected and analyzed before and after surgery at 1, 3, 6, 12 months. Statistical analysis was conducted using SPSS 22.0 software. Results:LSG was successfully implemented in 152 patients. Body weight, BMI, waist circumference, hip circumference, waist-to-hip ratio, liver function, blood glucose and lipid parameters all decreased at each time point of postoperative follow-up, while uric acid increased at 1 month and decreased at 3, 6 and 12 months after surgery and then gradually decreased. At 12 months after surgery, the body weight was (75.9±17.0) kg ( t=15.14, P<0.001), BMI (26.2±3.7) kg/m 2 ( t=14.44, P<0.001), waist circumference (89.0±10.7) cm ( t=9.20, P<0.001), hip circumference 100.6±7.6 cm ( t=12.67, P<0.001), alanine aminotransferase (18.2±16.6) μ/L ( t=2.83, P=0.018), aspartate aminotransferase (15.2±14.2) μ/L ( t=2.84, P=0.018), fasting plasma glucose (4.6±0.5) mmol/L ( t=2.01, P=0.026), triglyceride 1.1±0.5 mmol/L ( t=3.71, P=0.005) and uric acid 340.2±102.7 μmol/L ( t=4.46, P=0.001), all were lower than those before surgery with statistical significance. At 6 months after surgery, the %EWL in Ⅰ, Ⅱ and Ⅲ obesity groups was (92.7±35.5) %, (86.1±16.0) % and (67.5±14.0) % respectively, with statistical significance among the 3 groups ( F=5.38, P=0.010). The %TWL was (20.5±7.4) %, (28.5±5.2) % and (28.9±6.1) % in the three groups respectively, and the overall difference was statistically significant ( F=3.50, P=0.043). At 1 year after surgery, there was no significant difference in %EWL and %TWL among the 3 groups. Conclusions:LSG was effective in treating simple obesity, with improvements of body weight, waist circumference, hip circumference, liver function, blood glucose and lipid and uric acid. In the first 6 months after surgery, %EWL in patients with class Ⅰ obesity was higher than that in patients with class Ⅲ obesity, achieving relatively better weight loss. However patients with class Ⅲ obesity also experienced significant weight loss until 1 year after surgery.
6.Analysis on the Medication Law of Yuan Jinsheng for Treating Palpitations Based on Data Mining
Ailin JIN ; Hua SHU ; Zhengsheng LI ; Min XIE ; Feng WU ; Jinsheng YUAN
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(12):57-62
Objective To analyze the medication law of Professor Yuan Jinsheng,a renowned TCM practitioner in China,for treating palpitations through data mining methods.Methods Clinical prescriptions for treating palpitations by Professor Yuan Jinsheng from January 2016 to May 2023 were collected.The prescriptions were screened based on inclusion and exclusion criteria,a prescription compatibility network was constructed based on R Studio 4.3.1,and the medication law of prescriptions was analyzed.Results Totally 331 prescriptions were screened,involving 180 types of Chinese materia medica,with a total frequency of 3 625.The most frequently used drugs(≥30 times)were mainly tonics.The main properties were warm and neutral,the main tastes were sweet,bitter,and pungent,which belonged to heart,spleen and lung meridians.The top 5 drugs with high correlation were tonifying,blood circulation-activating and stasis-resolving,qi-regulating,and heat-clearing.Correlation analysis reveals high-frequency drugs,which were mainly Glycyrrhizae Radix et Rhizoma Praeparata cum Melle,Rehmannine Radix,Ophiopogonis Radix,Astragali Radix and Codonopsis Radix.The clustering analysis results showed that the efficacy was mainly tonifying deficiency,regulating qi,activating blood circulation,and resolving stasis.Conclusion Professor Yuan Jinsheng's prescription compatibility for treating palpitations primarily focuses on tonics,qi-regulating,and blood circulation-activating and stasis-resolving herbs,embodying the principles of treating palpitations from the perspective of the heart and spleen and the combined use of multiple organs.
7.Analysis of factors associated with acute hematologic toxicity in patients receiving chemoradiotherapy for cervical cancer
Haizhen YUE ; Jing YOU ; Hao WU ; Xiaoyan JIANG ; Jinsheng CHENG ; Kuke DING
Chinese Journal of Radiological Health 2024;33(4):440-446
Objective To investigate the clinical characteristics and dosimetric parameters associated with acute hematologic toxicity (AHT) resulting from radiation-induced damage to hematopoietic organs in patients undergoing chemoradiotherapy for cervical cancer and to provide a reference for establishing dose constraints in relevant regions of interest (ROIs) and predicting adverse tissue reactions during the development of clinical treatment plans. Methods A retrospective analysis was conducted on 556 patients with cervical cancer who underwent chemoradiotherapy at our hospital. Univariate (χ2 and t-test) and multivariate (binary logistic regression analyses) methods were employed to investigate the association of clinical factors and pelvic dose-volume parameters with grade ≥ 3 AHT in patients with cervical cancer. Clinical factors comprised patients’ age, clinical stage, pathologic stage, whether the patient had received chemotherapy in the radiotherapy cycle of interest, and dose-volume dosimetric parameters Vx and Dmean for pelvic bone marrow (BM) and femoral head (FH) structures. Results The incidence of AHT among the included cases was 30.4% (169/556). Chi-square analysis of the clinical factors revealed that whether the patient had received chemotherapy, patient’s age, and pathologic stage had a significant impact on AHT. Univariate analysis showed that the factors associated with AHT were mean dose, V5, V10, V15, V20, and V25 of BM and FH; dosimetric parameters such as V35 of FH had a significant impact on the development of AHT. Multivariate logistic regression analysis identified V15 of pelvic BM as an independent risk factor for AHT (P=0.041), with a threshold value of 84.29% as determined by a receiver operating characteristic (ROC) curve. Conclusion Whether a patient had received chemotherapy in the radiotherapy cycle of interest, and patient’s age and pathologic stage can serve as predictors of AHT. V15 of BM is an independent risk factor for AHT development. Therefore, when formulating a treatment plan, it is crucial to ensure that pelvic V15 remains below 84.29% to effectively reduce the incidence of grade ≥ 3 acute bone marrow depression.
9.Role and diagnostic value of miRNA-205 on vascular calcification in patients with chronic kidney disease
Yaling BAI ; Xueying WU ; Yangyang LU ; Dongxue ZHANG ; Jingjing JIN ; Meijuan CHENG ; Shenglei ZHANG ; Jinsheng XU
Chinese Journal of Nephrology 2023;39(5):353-360
Objective:To investigate the role and diagnostic value of miRNA-205 in chronic kidney disease (CKD) patients with vascular calcification.Methods:It was divided into in vitro cell experiment and retrospective cohort study. In vitro experiments were conducted by using rat thoracic aortic smooth muscle cells. Alizarin red staining and calcium content detection were used to detect the calcification of vascular smooth muscle cells (VSMCs). Alkaline phosphatase (ALP) test kit was used to measure ALP activity. Western blotting was used to detect the protein expression levels of osteogenic transcription factors runt-related transcription factor 2 (Runx2), α smooth muscle actin (α-SMA) and smooth muscle-22α (SM-22α) in VSMCs. qRT-PCR was used to detect miRNA-205 and Runx2 expression levels. The double luciferase reporter gene assay was used to verify the targeted relationship between miRNA-205 and Runx2. The non-dialysis patients with CKD 3-5 stage from June 2020 to January 2021 in the Department of Nephrology of Fourth Hospital, Hebei Medical University were selected. According to coronary artery calcium score (CACs), the patients were divided into non-calcification group (CACs=0), mild-moderate calcification group (0
10.Facilitation of behavioral and cortical emergence from isoflurane anesthesia by GABAergic neurons in basal forebrain
Ping CAI ; Weikun SU ; Jinsheng ZHANG ; Peichang LIU ; Feng LIU ; Renfu LIU ; Zhangshu LI ; Zhonghua ZHU ; Wenhao XIAO ; Yonghuai HU ; Hongda CAI ; Xiaodan WU ; Liangcheng ZHANG ; Changxi YU ; Li CHEN
Chinese Journal of Pharmacology and Toxicology 2023;37(7):485-486
OBJECTIVE To reveal the role of the basal forebrain(BF)GABAergic neurons in the regulation of isoflurane anesthesia and to elucidate the underlying neural pathways.METHODS The activity of BF GABAer-gic neurons was monitored during isoflurane anesthesia using a genetically encoded calcium indicator in Vgat-Cre mice of both sexes.The activity of BF GABAer-gic neurons was manipulated by chemogenetic and opto-genetic approaches.Sensitivity,induction time and emer-gence time of isoflurane anesthesia were estimated by righting reflex.The electroencephalogram(EEG)power and burst-suppression were monitored by EEG recording.The effects of activation of GABAergic BF-thalamic reticu-lar nucleus(TRN)pathway on isoflurane anesthesia were investigated with optogenetics.RESULTS The activity of BF GABAergic neurons was generally inhibited during isoflurane anesthesia,obviously decreased during the induction of anesthesia and gradually restored during the emergence from anesthesia.Activation of BF GABAergic neurons with chemogenetics and optogenetics promoted behavioral emergence from isoflurane anesthesia,with decreased sensitivity to isoflurane,delayed induction and accelerated emergence from isoflurane anesthesia.Optogenetic activation of BF GABAergic neurons prom-oted cortical activity during isoflurane anesthesia,with decreased EEG delta power and burst suppression ratio during 0.8%and 1.4%isoflurane anesthesia,respectively.Similar to the effects of activating BF GABAergic cell bod-ies,photostimulation of BF GABAergic terminals in the TRN also strongly promoted cortical activation and behav-ioral emergence from isoflurane anesthesia.CONCLU-SION The GABAergic neurons in the BF is a key neural substrate for general anesthesia regulation that facilitates behavioral and cortical emergence from general anesthe-sia via the BF-TRN pathway.

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