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1.
Journal of Clinical Hepatology ; (12): 64-69, 2024.
Article in Chinese | WPRIM | ID: wpr-1006428

ABSTRACT

ObjectiveTo investigate the protective effect of salidroside against nonalcoholic fatty liver disease (NAFLD) and its mechanism of action. MethodsA total of 24 male KM mice were randomly divided into normal group, HFD group, HFD+blank control group, and HFD+salidroside group, with 6 mice in each group. The mice in the normal group were given normal diet, and those in the other groups were given high-fat diet. After 14 weeks of modeling, the mice were given salidroside 100 mg/kg/day by gavage, and related samples were collected at the end of week 22. Enzyme-linked immunosorbent assay was used to measure the serum levels of related biochemical parameters including alanine aminotransferase (ALT), aspartate aminotransferase (AST), triglyceride (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C); HE staining and NAFLD activity score (NAS) were used to observe the liver histopathology of mice; Western blot was used to measure the changes in the expression of NAMPT, Sirt1, AMPKα, and SREBP1 in liver tissue. A one-way analysis of variance was used for comparison between multiple groups, and the least significant difference t-test was used for further comparison between two groups. ResultsCompared with the normal group, the HFD group had obvious steatosis and extensive large lipid droplets in liver tissue, with significant increases in NAS score (P<0.01) and the content of AST, ALT, TG, TC, and LDL-C in peripheral blood (all P<0.05) and a significant reduction in the content of HDL-C (P<0.05), as well as significant reductions in the expression levels of NAMPT, AMPKα, and Sirt1 in liver tissue (all P<0.05) and a significant increase in the expression level of SERBP1 (P<0.01). Compared with the HFD group and the HFD+blank control group, the HFD+salidroside group had reductions in the distribution of vacuolar lipid droplets and intralobular inflammation in liver tissue, alleviation of the ballooning degeneration of hepatocytes, significant reductions in NAS score (P<0.01) and the content of AST, ALT, TG, and LDL-C in peripheral blood (all P<0.05), and a significant increase in the content of HDL-C (P<0.05), as well as significant increases in the expression levels of NAMPT, AMPKα, and Sirt1 in liver tissue (all P<0.05) and a significant reduction in the expression level of SERBP1 (P<0.01). ConclusionSalidroside can significantly improve the pathological state of mice with NAFLD induced by high-fat diet and exert a protective effect against NAFLD by increasing the expression of NAMPT, Sirt1, and AMPKα and reducing the expression of SERBP1.

2.
Chinese Journal of School Health ; (12): 1054-1057, 2023.
Article in Chinese | WPRIM | ID: wpr-984783

ABSTRACT

Objective@#To understand the vision status of primary and secondary school students in Beijing, in order to provide scientific reference for myopia prevention and control.@*Methods@#From 2018 to 2021, a stratified cluster sampling method was used to monitor myopia among 191 293 primary and secondary school students selected from 6 urban areas and 10 suburban areas in Beijing. Myopic screening was in accordance with the "standards for children and adolescents myopic screening", and was measured by an automatic desktop computer optometer under non-cycloplegic conditions. Statistical analysis was used by Chi-square test.@*Results@#The total myopia rate of primary and middle school students in Beijing from 2018 to 2021 were 60.7%, 57.6%, 59.2% and 59.7%, respectively. In 2018, the myopia rates of primary school students, middle school students, regular high school students and vocational high school students were 38.3%, 77.3%, 88.3% and 73.2% respectively. In 2019, they were 34.7%, 76.4%, 87.7% and 72.0%, respectively; in 2020, they were 37.5%, 76.8%, 86.8%, 74.9%; in 2021, they were 38.7%, 77.4%, 86.5% and 74.9 % respectively. Significant differences in educational stage were observed ( χ 2=7 386.07, 11 104.28, 9 850.08, 9 714.59, P <0.01). From 2018 to 2021, the overall myopia rate of girls (62.1%) was higher than that of boys (56.5%)( χ 2=613.75, P <0.01). The myopia rate of girls were higher than that of boys in each year, and significant differences in educational stage were observed, respectively( χ 2=120.47, 163.47, 168.01, 162.24, P <0.01). The overall myopia rate of urban students(63.0%) was higher than that of suburban students (56.0%)( χ 2=978.82, P <0.01). The myopia rate of urban students were higher than that of suburban students every year, and significant differences in educational stage were observed, respectively ( χ 2=86.71, 240.96, 302.56, 409.30 , P < 0.01 ).@*Conclusion@#The detection rate of myopia rate of primary and middle school students in Beijing is still high. It is necessary to strengthen the publicity and intervention of poor visual acuity in primary and middle school students, especially among urban area students, with the aim of effectively control and reduction in the myopia rate, and the improvement of student visual health.

3.
Chinese Journal of Radiology ; (12): 60-66, 2023.
Article in Chinese | WPRIM | ID: wpr-992942

ABSTRACT

Objective:To investigate the value of preoperative breast MRI combined with axillary ultrasound in predicting lymphovascular invasion (LVI) of breast invasive ductal carcinoma.Methods:The clinical, pathological and imaging features of 160 female patients [age 25-74(49±10)years] with breast invasive ductal carcinoma from March 2014 to December 2017 in Shanxi Cancer Hospital were retrospectively analyzed. According to the LVI status determined by postoperative pathology, 160 patients were divided into LVI positive group (56 cases) and LVI negative group (104 cases). The clinical characteristics, pathological characteristics and imaging features of LVI positive group and LVI negative group were compared by the independent t test, Mann-Whitney U test or χ 2 test. Multivariate logistic regression analysis was performed to identify independent predictors for predicting LVI and construct a predictive model. The receiver operating characteristic (ROC) curve and area under the curve (AUC) was used to evaluate the discrimination of the prediction model, and the Hosmer-Lemeshow test was used to evaluate its calibration. Results:There was no significant difference in age, menopausal status, estrogen receptor, progesterone receptor, human epidermal growth factor 2, Ki67 index and molecular subtype between LVI positive group and negative group ( P>0.05). Tumor size, peritumoral edema, adjacent vessel sign, multifocality or multicentricity, peritumoral maximum-apparent diffusion coefficient (ADC), peritumour-tumour ADC ratio, MRI axillary lymph node status and ultrasound axillary lymph node status between LVI positive group and LVI negative group showed significantly statistical difference ( P<0.05). Variables with significant difference in the univariate analysis were entered into multivariate logistic regression analysis to explore predictors for LVI. Peritumoral edema (OR=3.367, 95%CI 1.382-8.201, P=0.008), multifocality or multicentricity (OR=4.026, 95%CI 1.268-12.776, P=0.018), high peritumoral-tumor ADC ratio (OR=7.321, 95%CI 2.226-24.079, P=0.001) and positive ultrasound axillary lymph node (OR=6.779, 95%CI 2.819-16.303, P<0.001) were independent predictors for predicting LVI. A logistic regression model was constructed using the above four indicators, and ROC showed AUC of this model for predicting LVI was 0.882, superior to any of the single indicator ( P<0.05); its sensitivity was 80.36% and specificity was 84.62%. Hosmer-lemeshow test showed that the prediction model had good calibration ( P=0.503). Conclusion:The combined prediction model constructed by preoperative breast MRI and axillary ultrasound could help to predict the LVI status of breast invasive ductal carcinoma.

4.
Chinese Journal of Orthopaedic Trauma ; (12): 723-727, 2023.
Article in Chinese | WPRIM | ID: wpr-992773

ABSTRACT

Objective:To evaluate the clinical efficacy of arthroscopic side-to-side suture with remnants preserved in repair of transtendinous rotator cuff tears.Methods:A retrospective study was conducted to analyze the data of 17 patients who had been treated by arthroscopic side-to-side suture with remnants preserved for transtendinous rotator cuff tear caused by trauma at Sports Medicine Center, The Second Hospital Affiliated to Inner Mongolia Medical University from January 2017 to January 2020. There were 11 males and 6 females with an age of (47.9±8.3) years and a duration from injury to surgery of (50.4±21.3) d. Recorded were range of motion and muscle strength of the shoulder, University of California at Los Angeles (UCLA) shoulder function score, Constant-Murley shoulder function score, visual analogue scale (VAS) pain score, re-tears and complications before operation and at the last follow-up.Results:The 17 patients were followed up for (16.5±3.5) months after operation. Retear of the rotator cuff occurred in 2 patients after operation while MRI showed good healing of the rotator cuff in the other patients with no such postoperative complications as infection or wound dehiscence. At preoperation and the last follow-up, respectively, the range of shoulder flexion was 152.9°±8.5° and 172.4°±5.6°, the abductor muscle strength 3.5 (2.6, 4.1) kg and 6.9 (6.3, 8.3) kg, the external rotator muscle strength (3.8±1.0) kg and (5.9±1.6) kg, the internal rotator muscle strength 3.9 (3.4,4.7) kg and 5.2 (4.5,5.9) kg, the UCLA score (13.2±1.9) points and (30.9±2.4) points, the Constant score (40.1±2.8) points and (86.1±4.6) points, and the VAS score (6.7±0.8) points and (0.9±0.6) points, all showing a significant difference between preoperation and the last follow-up ( P<0.05). Conclusion:In repair of transtendinous rotator cuff tears, arthroscopic side-to-side suture with remnants preserved can lead to significantly improved clinical outcomes in range of motion, muscle strength, functional recovery and pain relief.

5.
Chinese Journal of Infectious Diseases ; (12): 111-115, 2023.
Article in Chinese | WPRIM | ID: wpr-992522

ABSTRACT

Objective:To investigate the clinical characteristics of children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variants, and the impact factors of duration of cycle threshold (Ct) values turning to ≥35 detected by nucleotide test.Methods:Children aged 0 to 14 years with clinical symptoms of Omicron variants infection who admitted to designated hospital in Shanghai City (Renji Hospital, South Branch, Shanghai Jiao Tong University School of Medicine) from April 7 to June 2, 2022 were enrolled. The daily nasopharyngeal swab specimens were used for SARS-CoV-2 nucleic acid detecting by polymerase chain reaction and the results were expressed as Ct values. The T Ct≥ x was defined as from the symptom onset or first positive nucleic acid test results (the earlier data) to Ct≥ x of the open reading frame 1ab ( ORF1 ab) gene, which was the time duration from the initial to a specific Ct value.Clinical data were collected, including age, sex, vaccination and comorbidities.Cox model was performed to analyzed the impact factors of T Ct≥35. Results:A total of 871 pediatric cases with a median age of two years (ranging from one month to 14 years old) were included. Among them, 474 cases (54.4%) were male, and 89 cases (10.2%) had underlying diseases including congenital heart disease, solid tumors and epilepsy. There were 572(65.7%) mild cases, 298(34.2%) common cases, one (0.1%) severe case and no critical cases or deaths. The T Ct≥35 was 12(10, 14) days. Cox model indicated that compared to children aged one to 12 months, children aged 37 to 84 months and 85 to 168 months had shorter T Ct≥35 (hazard ratio ( HR)=1.55 and 1.84, respectively, both P<0.001). After adjusted with age, comparing to unvaccinated patients, patients with one or two shots vaccine had shorter T Ct≥35 (adjected hazard ratio (a HR)=1.49, P=0.011), and common patients had longer T Ct≥35 than mild patients (a HR=0.78, P=0.002), and patients with comorbidities had longer T Ct≥35than patients without comorbidities (a HR=0.38, P<0.001).The duration of T Ct≥28, T Ct≥30, T Ct≥33 and T Ct≥35 in children without underlying diseases were 7(6, 9) d, 9(7, 10) d, 10(8, 11) d and 12(10, 14) d, respectively. Conclusions:Age, vaccination, disease severity and underlying diseases could affect the duration of SARS-CoV-2 nucleotide turning to negative (Ct value≥35) in children infected with Omicron variants.

6.
Clinical Medicine of China ; (12): 19-23, 2023.
Article in Chinese | WPRIM | ID: wpr-992458

ABSTRACT

Objective:To explore the clinical features and diagnostic methods of primary ciliary dyskinesia (PCD).Methods:A case of PCD diagnosed by Kunming Children's Hospital was analyzed retrospectively (including general information, clinical characteristics, auxiliary examination results), and the literature was reviewed.Results:The patient, an 8-year-old female, went to hospital for repeated cough and suffered from pneumonia and sinusitis repeatedly in the past. The electron microscope of cilia biopsy showed that the number of cilia was reduced. The mutation of c.7615T>C (p.W2539R) in DNA H5 gene located in chr5-13,809,290 was detected by gene test, so the patient was diagnosed as PCD.The mutation site was a new mutation site.Conclusion:PCD is a rare disease in children. Electron microscopy and genetic examination are helpful to the diagnosis of PCD. Children with recurrent respiratory tract infection and wet cough should be alert to the possibility of PCD.

7.
Chinese Journal of Pharmacology and Toxicology ; (6): 520-520, 2023.
Article in Chinese | WPRIM | ID: wpr-992200

ABSTRACT

OBJECTIVE The abnormal amyloid-β(Aβ)and oxidative stress assiociated with the progression of Alzheimer disease(AD).Quercetin has been reported to possess antioxidant and anti-inflammatory properties in neurodegenerative disorders.In this present study,we designed to characterize the mechanisms by which quer-cetin exerts neuroprotective effects in murine neuroblas-toma N2a cells stably expressing human Swedish mutant amyloid precursor protein(N2a/APP).METHODS N2a/APP cells were treated with quercetin at concentrations of 10,20 and 50 μ mol·L-1 for 24 h.Cell viability was examined with CCK-8 assays.The protein levels of ERK1/2 and Akt were detected by Western blotting.Intra-cellular reactive oxygen species(ROS)was detected by a fluorescent probe 2,7-dichlorofluorescein diacetate(DCFH-DA).The mitochondrial membrane potential(Δψ m)in N2a/APP cells was detected by using JC-1 staining method.Immunofluorescence was used to detect the generation of 8-hydroxy-2′-deoxyguanosine(8-OHdG)and 4-hydroxynonenal(4-HNE).RESULTS Quercetin attenuated the enhancement of p-ERK1/2,reductions of p-Akt,and decreased levels of APP expression.More-over,quercetin alleviated loss of mitochondria membrane potential(MMP)since it attenuates these oxidative stress,as reflected in the levels of ROS,4-HNE and 8-OHdG,was elevated in N2a/APP cells and these effects were again ameliorated by quercetin.CONCLUSION Neuroprotection by quercetin in N2a/APP cells involves normalizing the impaired mitochondrial function and reducing oxidative stress via inactivation of the ERK1/2 and activation of the Akt pathways.

8.
Journal of Modern Urology ; (12): 861-866, 2023.
Article in Chinese | WPRIM | ID: wpr-1005974

ABSTRACT

【Objective】 To explore the clinical features, treatment and prognosis of paraganglioma of the urinary bladder (PUB). 【Methods】 The clinical data of 41 PUB patients treated at our hospital during Sep.2012 and Sep.2022 were collected. The clinical features, surgical records, pathological reports and follow-up records were retrospectively analyzed. Patients’ survival was estimated with Kaplan-Meier estimator. The differences among groups were compared with Log-rank test. 【Results】 Among the 41 patients, 20 were male and 21 were female, with a median age of 52 years. All patients were treated with surgery, including transurethral resection of bladder tumor (TURBT) in 16 cases, partial cystectomy (PC) in 23 cases, and radical cystectomy (RC) in 2 cases. All patients were followed up for 4.0 to 125.0 months, with a median of 59.0 months. Local recurrence occurred in 5 patients, and distant metastasis occurred in 5 patients. Survival analysis showed that the 5-year overall survival (OS) rate and 5-year relapse-free survival (RFS) rate were 95.7% and 84.8%, respectively. Further analysis showed statistically significant differences in OS and RFS among groups with different maximum tumor diameters, growth patterns, and Ki-67 expressions (P<0.05). For patients with a maximum tumor diameter ≤2.8 cm, there was no significant difference in OS and RFS among different surgical groups. 【Conclusion】 PUB is rare, and a definitive diagnosis is based on pathology. In addition, the main treatment is surgery and the prognosis is good.

9.
Chinese Medical Ethics ; (6): 95-101, 2023.
Article in Chinese | WPRIM | ID: wpr-1005488

ABSTRACT

By searching the papers about medical ethics education in Chinese database CNKI and foreign database Web of Science Core Collection, and using the bibliometrics software CiteSpace to draw the knowledge map of medical ethics education at home and abroad, this paper conducted a quantitative and qualitative analysis of the evolution of hot spots and the development trend of medical ethics education research, and found that the development level of medical ethics education in the world varies greatly. China has experienced the development and evolution from medical ethics education to medical humanities, and its research hotspots mainly focus on the topics of "medical ethics" "medical education" "practice teaching" "medical humanities" "teaching reform" and so on. While foreign countries focus on "medical education" "clinical ethics" "hospice care" "health care" "global public health" "science and technology ethics" "organ transplantation" "curriculum construction" "health policy" and other topics. Through the comparative analysis of the development trend and the evolution of hot spots of education, this paper put forward theoretical reference direction for improving the medical ethics education system in China and further perfecting the discipline construction of medical ethics in China.

10.
Acta Pharmaceutica Sinica ; (12): 3691-3700, 2023.
Article in Chinese | WPRIM | ID: wpr-1004659

ABSTRACT

Artemisinin is a sesquiterpene lactone natural product that contains an endoperoxide bond. Artemisinin has various biological activities including antimalarial, anti-tumor, antiviral and anti-fibrotic activity. Owing to the poor pharmacokinetic properties of artemisinin, its derivatives are currently used in clinic and frequently reported in literature. Although numerous derivatives of artemisinin have been reported, no study has been carried out yet to study the effect of substituted groups with different acid-base property on the antimalarial activity. Among these derivatives, the C-10 carbon artemisinin derivatives are often reported, and their corresponding 10β epimer show much better antimalarial activity than 10α epimer with large-sized substitute. However, there is currently no stereoselective synthesis to efficiently prepare the privileged 10β epimer of C-10 carba artemisinin. To address these two scientific questions, we herein first report an optimized method to stereoselectively synthesize the 10β epimer of C-10 carba artemisinin (98∶2 d.r.). Second, we employed the optimized method to synthesize a series of C-10 carba artemisinin derivatives with different acid-base properties. The antimalarial examination indicated that those derivatives with neutral groups or basic group of short chain showed similar antimalarial activity as dihydroartemisinin (DHA). The acidic group could dramatically decrease the antimalarial effect and was more than 22-fold less effective than DHA or the neutral ones. This study will shed light on the development of new generation of artemisinin derivatives with potent activity.

11.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 1030-1037, 2023.
Article in Chinese | WPRIM | ID: wpr-998996

ABSTRACT

ObjectiveTo investigate the effect of chorionicity, gestational age at birth and birth weight discordance on neonatal outcomes in twin pregnancies. MethodsWe conducted a population-based retrospective study of monochorionic diamniotic (MCDA) twin pregnancies and dichorionic diamniotic (DCDA) twin pregnancies who were admitted in the First Affiliated Hospital, Sun Yat-sen University from January 2015 to December 2020. A total of 1504 live-born twins were included, with 386 cases in MCDA group and 1118 cases in DCDA groups, respectively. The comparison of neonatal outcomes between MCDA and DCDA twins was performed using t-test, Wilcoxon rank sum test, Chi-square test or Fisher’s exact test. Logistic regression was performed to evaluate the effects of chorionicity, gestational age at birth, birth weight discordance and sex on neonatal outcomes. There were 168 live-born twins affected by inter-twin birth weight discordance≥25%, with 96 cases in MCDA group and 72 cases in DCDA groups, respectively. Logistic regression was performed to evaluate the effects of chorionicity, gestational age at birth, birth weight light or heavy (small twin or large twin) of the twin and sex on neonatal outcomes. ResultsAmong the 1 504 newborns, gestational age at birth was lower in MCDA group compared with DCDA group (P = 0.000), and the degree of birth weight discordance was higher in MCDA group than that of the DCDA group (P = 0.001). Birth asphyxia, respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), and sepsis were more frequency in MCDA group compared with DCDA group (P = 0.000, P = 0.000, P = 0.000, P = 0.000). Low gestational age at birth was an independent risk factor for birth asphyxia, RDS, BPD, sepsis, necrotizing enterocolitis (NEC)≥stageⅡ, acute kidney injury (AKI), retinopathy of prematurity (ROP), and neonatal death respectively (P = 0.000, P = 0.000, P = 0.000, P = 0.000, P = 0.011, P = 0.000, P = 0.000, P = 0.000). High degree of birth weight discordance was an independent risk factor for birth asphyxia, RDS, BPD, sepsis and ROP respectively (P = 0.045, P = 0.000, P = 0.000, P = 0.004, P = 0.017 ). Chorionicity was not an independent risk factor for neonatal morbidity and death (P > 0.05). Among the 168 twins with birth weight discordance ≥25%, low gestational age at birth was an independent risk factor for birth asphyxia, RDS, BPD, sepsis and ROP, respectively (P = 0.000, P = 0.000, P = 0.000, P = 0.000, P = 0.000); small twin was an independent risk factor for birth asphyxia and BPD, respectively ( P = 0.013, P = 0.001); chorionicity was not an independent risk factor for neonatal morbidity (P > 0.05). ConclusionChorionicity was not an independent risk factor for adverse neonatal outcome in twin births. Low gestational age at birth and high degree of birth weight discordance were independent risk factor for adverse neonatal outcome in twin births. Small twins had increased risk of adverse neonatal outcome in twins with birth weight discordance ≥25%.

12.
International Eye Science ; (12): 1954-1960, 2023.
Article in Chinese | WPRIM | ID: wpr-998471

ABSTRACT

AIM: To analyze the efficacy and safety of safflor yellow injection combined with anti-vascular endothelial growth factor(VEGF)drug in the treatment of non-ischemic central retinal vein occlusion(CRVO).METHODS: A total of 91 patients(91 eyes)with non-ischemic CRVO complicated with macular edema who were treated in the Affiliated Eye Hospital of Nanchang University from April 2017 to December 2021 were selected. They were randomly divided into observation group, with 47 cases(47 eyes)treated with safflor yellow injection combined with intravitreal injections of ranibizumab, and control group with 44 cases(44 eyes)who were treated with intravitreal injections of ranibizumab. Followed-up for 11mo, the best corrected visual acuity(BCVA)and macular central retinal thickness(CRT)of the two groups were observed and the cases of complete absorption of retinal hemorrhage, the times of anti-VEGF drug injections, the cases of ischemic CRVO, and the occurrence of systemic or ocular complications were recorded.RESULTS: At 1, 2, 3, 5, 7, 9 and 11mo after treatment, the BCVA and CRT in both groups were significantly improved compared with those before treatment, and BCVA and CRT in the observation group were superior to the control group at 3, 5, 7, 9 and 11mo after treatment(all P&#x003C;0.05). At 5, 7, 9 and 11mo after treatment, the complete absorption rate of retinal hemorrhage in the observation group was higher than that in the control group(P&#x003C;0.05). During the follow-up period, the anti-VEGF drug injection in the observation group was significantly less than that in the control group(4.83±1.05 vs. 5.75±1.01, P&#x003C;0.05), and the incidence of ischemic CRVO was significantly lower than that in the control group(21% vs. 86%, P&#x003C;0.05), and there were no treatment-related systemic and ocular complications in both groups.CONCLUSION: Safflor yellow injection combined with anti-VEGF drugs is a safe and effective method for the treatment of non-ischemic CRVO, which can significantly improve vision and reduce CRT. It can increase the complete absorption rate of retinal hemorrhage, reduce the times of anti-VEGF drug injections and the incidence of ischemic CRVO compared with monotherapy of anti-VEGF drug.

13.
Chinese Journal of Laboratory Medicine ; (12): 155-162, 2023.
Article in Chinese | WPRIM | ID: wpr-995712

ABSTRACT

Objective:To investigate the accuracy, effectiveness and feasibility of MassARRAY genotyping assay in the diagnoses of neonatal genetic metabolic diseases.Methods:This is a retrospective study. From December 2016 to January 2020, newborns were screened by tandem mass spectrometry at the Zhejiang Newborn Screening Center, among which the data of 7 922 suspected positive cases of genetic metabolic diseases were collected. These patients were then tested for the common variants of 27 genetic metabolic diseases by MassARRAY genotyping assay, along with further testing using Sanger or next-generation sequencing used to verify and/or further search for potential variants.Results:A total of 1 408 cases were tested with MassARRAY. Among these, 307 cases were confirmed with certain genetic metabolic diseases. The detection rate of hyperphenylalaninemia was the highest, followed by primary carnitine deficiency, short acyl-coA dehydrogenase deficiency and methylmalonic acidemia. With these cases, the consistency of Sanger sequencing and MassARRAY was 100% (307/307). Another 287 cases were identified as carriers by MassARRAY with a 49.1% (141/287) consistency in reference to Sanger sequencing, mainly involving SLC22A5 and MCCC1 genes. Meanwhile, 50.8% (146/287) of these cases were found to have another variant mainly involving PAH, PTS and ACADS genes. The remaining 814 cases have no variants; 158 cases out of these patients have continuously abnormal amino acids, acyl carnitines, urine organic acid and/or other biochemical indices, and were tested by next-generation sequencing, among which 38% (60/158) were detected with two variants. In this study, a total of 513 patients with genetic metabolic disease were diagnosed, and the detection rate of MassARRAY was 59.8% (307/513). Conclusions:MassARRAY genotyping assay can be used as an early molecular screening method for neonatal genetic metabolic diseases. The detection rate is particularly high in diseases with a high concentration of hotspot variants, such as hyperphenylalaninemia and primary carnitine deficiency. The future application value of MassARRAY should be further improved by continuously optimizing its ability to identify new disease genes and potential variable sites.

14.
Chinese Journal of Digestive Endoscopy ; (12): 391-396, 2023.
Article in Chinese | WPRIM | ID: wpr-995396

ABSTRACT

Objective:To investigate the influence of liver drainage volume on overall survival time in patients with unresectable malignant hilar bile duct obstruction.Methods:Data of 633 patients with unresectable malignant hilar bile duct obstruction (BismuthⅡ-Ⅳ) who underwent endoscopic stent drainage in 3 endoscopy centers from January 2002 to May 2019 were retrospectively analyzed. Main observation indicators included clinical success rate, stent patency, overall survival, the effective liver drainage volume, and complication incidence.Results:The clinical success rates of patients with liver drainage volume <30%, 30%-50%, and >50% were 56.8% (25/44), 77.3% (201/260) and 84.2% (277/329) respectively. The incidences of early cholangitis were 31.8% (14/44), 18.8% (49/260) and 16.1% (53/329). The median stent patency time was 4.5 (95% CI: 1.8-7.2) months, 5.6 (95% CI: 5.0-6.2) months and 6.6 (95% CI: 5.2-8.0) months. The overall survival time was 2.4 (95% CI: 1.8-3.0) months, 4.0 (95% CI: 3.4-4.6) months and 4.9 (95% CI:4.4-5.4) months, respectively. The clinical success rate ( χ 2=8.28, P=0.012), median stent patency period ( χ 2=18.87, P=0.015) and overall survival time ( χ 2=6.93, P=0.024) of 30%-50% liver drainage volume group were significantly higher than those of <30% group. Further multivariate cox regression analysis showed that the disease type (hepatocellular carcinoma VS hilar cholangiocarcinoma: HR=1.50, 95% CI:1.18-1.91, P=0.001; gallbladder carcinoma VS hilar cholangiocarcinoma: HR=1.45, 95% CI:1.14-1.85, P=0.002; metastatic cholangiocarcinoma VS hilar cholangiocarcinoma: HR=1.48, 95% CI:1.08-2.04, P=0.015), bilirubin level >200 μmol/L ( HR=1.35, 95% CI:1.14-1.60, P<0.001),metal stents ( HR=0.67, 95% CI:0.56-0.79, P<0.001), liver drainage volume (volume 30%-50% VS <30%: HR=0.64, 95% CI: 0.45-0.90, P=0.010; volume>50% VS <30%: HR=0.58, 95% CI:0.41-0.81, P=0.002) and anti-tumor therapy ( HR=0.51, 95% CI:0.42-0.61, P<0.001) were independent predictors for overall survival time of patients with unresectable malignant hilar bile duct obstruction. Conclusion:When endoscopic stent drainage is performed for patients with unresectable malignant hilar bile duct obstruction, at least 30% liver volume is required for better overall survival. In addition, the use of metal stent drainage and anti-tumor therapy may increase survival benefits.

15.
Chinese Journal of Health Management ; (6): 259-265, 2023.
Article in Chinese | WPRIM | ID: wpr-993661

ABSTRACT

Objective:To investigate the relationship between cardiometabolic index (CMI) and hyperuricemia (HUA) in the health examination population.Methods:It was a cross-sectional study. A total of 21 720 individuals who received health examinations in Xiangya hospital, Central South University between 2020 and 2021 were recruited in this study. Multivariate logistic regression analysis was used to determine the independent correlation between CMI and HUA, and stratified analysis was applied to check whether there were population differences. Then the predictive value of CMI for hyperuricemia in the health examination population was evaluated with the area under the receiver operator characteristic (ROC) curve.Results:Among the 21 720 subjects, 4 418 (20.34%) were detected with HUA. In the HUA group, the body mass index (BMI), waist-to-hip ratio, CMI, total cholesterol, triglyceride, systolic blood pressure, diastolic blood pressure, fasting blood glucose, 2-hour postprandial blood glucose, and blood creatinine levels were all significantly higher than those in the normal uric acid group, while high-density lipoprotein and epidermal growth factor receptor (eGFR) were significantly lower (all P<0.05). Multiple logistic regression analysis showed that after adjusting for relevant factors, CMI was significantly positively correlated with HUA ( OR=1.16, 95% CI: 1.129-1.192); and with the increase of CMI, the risk of HUA increased gradually. Stratified analysis and interaction test according to gender, age, BMI, hypertension, abnormal blood glucose and glomerular filtration rate indicated that CMI was positively associated with the occurrence of HUA in all populations. Compared with that in people with abnormal blood glucose, the correlation between CMI and HUA was more obvious in people with normal blood glucose. The area under the ROC curve (AUC) for CMI to predict HUA was 0.723(95% CI: 0.715-0.731), with a specificity of 0.636 and a sensitivity of 0.698, and the cut-point was 0.693. Conclusion:There was a significant positive correlation between CMI and HUA in the health examination population, which has good predictive value for HUA.

16.
Chinese Journal of Orthopaedics ; (12): 959-968, 2023.
Article in Chinese | WPRIM | ID: wpr-993527

ABSTRACT

Objective:To compare the clinical and imaging outcomes of fascia lata autograft bridging repair reinforecd with an artificial ligament as the internal brace with the autograft bridging repair for the treatment of irreparable massive rotator cuff tears (IMRCTs).Methods:The data of 26 patients with IMRCT who underwent fascia lata autograft bridging repair augmented with artificial ligament as the internal brace (internal brace group) and of 24 patients with IMRCT who underwent bridging autograft repair alone (control group) were retrospectively evaluated preoperatively and at 2-year follow-up. Clinical outcomes were assessed using shoulder activity, the American Shoulder and Elbow Surgeons (ASES) Score, University of California Los Angeles (UCLA) Score, and visual analogue scale (VAS) for pain. Imaging outcomes were evaluated using acromiohumeral distance (AHD), Goutallier grade, and status of fascia lata grafts according to radiographs or magnetic resonance imaging results.Results:All 50 cases were followed up for 34.2±7.2 months (range 24-45 months). Compared to the control group, the internal brace group showed better ASES score (93.5±5.3 vs. 89.5±5.7, P<0.05), UCLA score (31.7±3.8 vs. 28.5±5.6, P<0.05), improvement in UCLA score (19.6±4.2 vs. 15.9±5.7, P<0.05), active elevation (167.3°±8.4° vs. 159.4°±13.6°, P<0.05), abduction strength (8.9±1.2 vs. 8.2±1.2, P<0.05), improvement in abduction strength (4.1±1.2 vs. 3.3± 1.0, P<0.05), AHD (7.0±1.4 mm vs. 5.9±1.0 mm, P<0.05), improvement in AHD (3.3±1.5 mm vs. 2.0±0.6 mm, P<0.05), and healing rate of fascia lata autografts (92% vs. 54%, P<0.05) at 2-year follow-up. Conclusion:Fascia lata autograft bridging repair reinforced with an artificial ligament as the internal brace improves healing rate of bridging graft and postoperatively short-term clinical outcomes of patients with IMRCT.

17.
Journal of Public Health and Preventive Medicine ; (6): 16-20, 2023.
Article in Chinese | WPRIM | ID: wpr-965175

ABSTRACT

Objective To explore the biological exposure limit of blood system damage caused by long-term exposure to polycyclic aromatic hydrocarbons (PAHs) in non-occupational population by using the benchmark dose method, and to provide relevant reference for further improving the assessment of PAHs-induced health damage effects. Methods Adult residents living in downwind direction of a coke-oven plant in Shanxi Province were selected as the research subjects, and the information collected from baseline was used as the control. The metabolites of PAHs in urine were used as exposure biomarker, and the abnormal rate of red blood cell index was used as response biomarker. The relationship between urinary OH-PAHs and the erythrocyte damage rate was analyzed, and the benchmark dose (BMD) and the lower confidence limitation for the benchmark dose (BMDL) were calculated using Bayesian dose-optimizing software. Results The urinary PAH metabolites were mainly naphthalene and fluorene. The detection concentrations of 2-OHFlu and 1-OHPhe in the final year were higher than those in the baseline (P<0.05). With the increase of exposure years, the abnormal rate of red blood cells in the final year was higher than that in the baseline (P<0.05). In addition, the abnormal rate of red blood cells increased with the increase of the concentrations of five metabolites of PAHs in urine, and the chi-square trend test was significant (P<0.05). The benchmark dose (BMD) of OH-PAHs was 0.67 μmol/mol Cr, 0.82 μmol/mol Cr, 1.40 μmol/mol Cr and 0.78 μmol/mol Cr, respectively. The BMD of 2-OHNap in people with barbecue diet habits was 0.23 μmol/mol Cr. The BMD of 2-OHNap in people without barbecue diet habits was 1.44 μmol/mol Cr. Conclusion There is a dose-response relationship between the concentration of PAHs metabolites in urine and the damage of red blood cells. Long-term exposure to PAHs can lead to hematological damage. It is suggested that targeted public health interventions should be formulated to reduce the exposure of the general population to PAHs.

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Organ Transplantation ; (6): 273-2023.
Article in Chinese | WPRIM | ID: wpr-965052

ABSTRACT

Objective To identify the key genes and targeted protection methods affecting the survival of human islets. Methods Using bioinformatics method, the gene expression profile (GSE53454) was selected through screening and comparison from Gene Expression Omnibus(GEO) database. GEO2R tool was employed to screen the differentially expressed gene(DEG) between the human islets exposed (exposure group) and non-exposed (non-exposure group) to interleukin (IL)-1β and interferon (IFN)-γ for 24, 48 and 72 h, respectively. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed by DAVID. Protein-protein interaction (PPI) network was constructed by STRING and Cytoscape apps. Results A total of 69 up-regulated DEGs and 2 down-regulated DEGs were identified. GO analysis showed that during the biological process, DEGs were enriched in the aspects of virus defense and inflammatory response. In cellular components, DEGs were significantly enriched in extracellular space, outside plasma membrane and extracellular regions. Regarding molecular functions, DEGs were significantly enriched in chemokine activity and cytokine activity. KEGG analysis revealed that DEGs were mainly enriched in multiple signaling pathways, such as cytokine-cytokine receptor interaction, virus protein-cytokine and cytokine-receptor interaction, etc. Ten key genes (STAT1, CXCL10, IRF1, IL6, CXCL9, CCL5, CXCL11, ISG15, CD274, IFIT3) with high connectivity were selected by STRING analysis, all of which were significantly up-regulated in human islets exposed to IL-1β and IFN-γ. Six genes (STAT1, CXCL10, CXCL9, CXCL11, CCL5, IL6) were screened by KEGG enrichment analysis, mainly in Toll-like receptor signaling pathway. Conclusions STAT1, CXCL10, CXCL9, CXCL11, CCL5 and IL6 are the key genes affecting the survival of human islets, which are mainly enriched in Toll-like receptor signaling pathway and act as important targets for islet protection.

19.
Journal of Clinical Hepatology ; (12): 316-324, 2023.
Article in Chinese | WPRIM | ID: wpr-964790

ABSTRACT

Objective To investigate the effect of cyclin D1 (with CCND1 as the gene name) on HBV replication and its potential mechanism. Methods With reference to GSE84044 dataset, the Spearman's rank correlation analysis was used to investigate the correlation between the expression levels of genes in liver tissue and serum HBV DNA load in patients with HBV-related liver fibrosis. Cyclin D1 and cyclin D1 T286A mutant were transiently expressed in the HBV cell replication model, and time-resolved immunofluorescence and quantitative real-time PCR were used to measure the levels of HBsAg/HBeAg and HBV DNA in cell culture supernatant; Western blot was used to measure the level of HBV core protein in cells; reverse-transcription quantitative real-time PCR was used to measure the level of HBV RNA in cells; dual-luciferase reporter assay was used to observe the effect of cyclin D1 on the activity of HBV basic core promoter (BCP). GSE83148 dataset was used to investigate the correlation between CCND1 and HBV-related regulatory factors. The independent samples t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups. Results The analysis of GSE84044 data showed that 7 cell cycle genes were significantly negatively correlated with HBV DNA load in liver tissue of the patients with HBV-related liver fibrosis (all r < -0.3, all P < 0.05), which included the CCND1 gene ( r =-0.474, P < 0.001). Exogenous expression of cyclin D1 and cyclin D1 T286A mutant reduced the levels of HBsAg, HBeAg, and HBV DNA in culture supernatant of the HBV replication cell model, as well as the levels of HBV core protein and HBV RNA in cells. Exogenous expression of cyclin D1 significantly inhibited the transcriptional activity of HBV BCP. The expression level of CCND1 in liver tissue of chronic hepatitis B patients was significantly positively correlated with the expression of APOBEC3G ( r =0.575, P < 0.001), SMC5 ( r =0.341, P < 0.001), and FOXM1 ( r =0.333, P < 0.001) which inhibited HBV replication, while it was significantly negatively correlated with the expression of the HBV entry receptor NTCP ( r =-0.511, P < 0.001) and HNF1α as the transcription factor for positive regulation of HBV replication ( r =-0.430, P < 0.001). Overexpression of cyclin D1 in HepG2 cells reduced the transcriptional levels of HNF1α and NTCP. Conclusion Cyclin D1 inhibits HBV transcription and replication possibly by downregulating the expression of HNF1α and NTCP.

20.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 684-690, 2023.
Article in Chinese | WPRIM | ID: wpr-979223

ABSTRACT

ObjectiveTo compare the changes of retinal microcirculation indexes in the anterior and posterior macular areas of the eyes used at close range and to explore the possible causes of myopia affected by near work. MethodsWatching mobile phone video for 1 hour at close range was used as the method of defining near work. The OCTA technology was used to measure the superficial retinal microcirculation indexes within 6 by 6 mm macular area before and after near work, including the superficial retinal VLD from the nerve fiber layer to the inner boundary of the outer plexiform layer, the VPD, nonperfusion area of FAZ, FAZ-P and FAZ circulation,. The FAZ was divided int center, inner layer, outer layer and overall according to the region, and 11 microcirculation indexes were obtained to compare the differences between before and after near work. ResultsThe indexes of superficial retinal microcirculation in the macular area generally decreased after near work, except for FAZ-A and FAZ-P(P = 0.148, 0.975). The largest differences among both VLD and VPD occurred between the central and inner layer(Difference = 1.00, 0.80, 0.02, 0.02,P = 0.001, 0.008, 0.001, 0.008). No differences in microcirculation indexs were observed in the macular area after near work with different diopters and axial lengths. ConclusionNear work may affect the occurrence and development of myopia by affecting the changes of retinal microcirculation in the superficial layer of macula, leading to ischemia and hypoxia.

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