1.Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
Chuan ZHANG ; Ling HUI ; Bing-Bo ZHOU ; Lei ZHENG ; Yu-Pei WANG ; Sheng-Ju HAO ; Zhen-Qiang DA ; Ying MA ; Jin-Xian GUO ; Zong-Fu CAO ; Xu MA
Chinese Journal of Contemporary Pediatrics 2024;26(1):67-71
Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.
2.Effects of isoprenylcysteine carboxyl methyltransferase silencing on the proliferation and apoptosis of tongue squamous cell carcinoma.
Shao-Ru WANG ; Wei SUN ; Nan ZHOU ; Kai ZHAO ; Wen-Jian LI ; Zeng-Peng CHI ; Ying WANG ; Qi-Min WANG ; Lei TONG ; Zong-Xuan HE ; Hong-Yu HAN ; Zheng-Gang CHEN
West China Journal of Stomatology 2021;39(1):64-73
OBJECTIVES:
This study aimed to explore the effects of silencing isoprenylcysteine carboxyl methyltransfe-rase (Icmt) through small interfering RNA (siRNA) interference on the proliferation and apoptosis of tongue squamous cell carcinoma (TSCC).
METHODS:
Three siRNA were designed and constructed for the Icmt gene sequence and were then transfected into TSCC cells CAL-27 and SCC-4 to silence Icmt expression. The tested cells were divided as follows: RNA interference groups Icmt-siRNA-1, Icmt-siRNA-2, and Icmt-siRNA-3, negative control group, and blank control group. The transfection efficiency of siRNA was detected by the fluorescent group Cy3-labeled siRNA, and the expression of Icmt mRNA was screened by quantitive real-time polymerase chain reaction (qRT-PCR) selected the experimental group for subsequent experiments. The expression of Icmt, RhoA, Cyclin D1, p21, extracellular regulated protein kinases (ERK), and phospho-extracellular regulated protein kinases (p-ERK) were analyzed by Western blot. The proliferation abilities of TSCC cells were determined by cell counting kit-8 assay. The change in apoptosis was detected by AnnexinV-APC/propidium staining (PI) assay. Cell-cycle analysis was conducted by flow cytometry.
RESULTS:
The expression of Icmt mRNA and protein in TSCC cells significantly decreased after Icmt-siRNA transfection (
CONCLUSIONS
Silencing Icmt can effectively downregulate its expression in TSCC cells, reduce the RhoA membrane targeting localization and cell proliferation, and induce apoptosis. Thus, Icmt may be a potential gene therapy target for TSCC.
Apoptosis
;
Carcinoma, Squamous Cell
;
Cell Line, Tumor
;
Cell Proliferation
;
Humans
;
Protein Methyltransferases
;
RNA, Small Interfering
;
Tongue
;
Tongue Neoplasms
3.Effects of isoprenylcysteine carboxylmethyltransferase silencing on the migration and invasion of tongue squamous cell carcinoma.
Nan ZHOU ; Zeng-Peng CHI ; Wen-Jian LI ; Kai ZHAO ; Shao-Ru WANG ; Qi-Min WANG ; Lei TONG ; Zong-Xuan HE ; Hong-Yu HAN ; Ying WANG ; Zheng-Gang CHEN
West China Journal of Stomatology 2021;39(3):328-335
OBJECTIVES:
The effect of isoprenylcysteine carboxymethyltransferase (ICMT) silencing on the migration and invasion of tongue squamous cell carcinoma was investigated by constructing the small interfering RNA (siRNA) of ICMT.
METHODS:
Through liposomal transfection, siRNA was transfected into human tongue squamous cell carcinoma CAL-27 and SCC-4 cells (ICMT-siRNA group) with a negative control group (transfected with NC-siRNA) and a blank control group (transfected with a transfection reagent but not with siRNA). Quantitative real-time polymerase chain reaction was performed to analyze the mRNA expression of ICMT and RhoA in each group of cells after transfection and to measure the silencing efficiency. Western blot was applied to examine the expression levels of ICMT, total RhoA, membrane RhoA, ROCK1, matrix metalloproteinase (MMP)-2, and MMP-9 proteins in each group. The migration and invasion abilities were evaluated via wound healing and Transwell motility assays.
RESULTS:
After CAL-27 and SCC-4 cells were transfected with ICMT-siRNA, the expression levels of ICMT genes and proteins decreased significantly in the experimental group compared with those in the negative and blank control groups (
CONCLUSIONS
The migration and invasion abilities of CAL-27 and SCC-4 cells were reduced significantly after the transfection of ICMT-siRNA, and the involved mechanism might be related to the RhoA-ROCK signaling pathway.
Carcinoma, Squamous Cell
;
Cell Line, Tumor
;
Cell Movement
;
Cell Proliferation
;
Humans
;
Neoplasm Invasiveness
;
Protein Methyltransferases
;
RNA, Small Interfering
;
Tongue
;
Tongue Neoplasms
;
Transfection
;
rho-Associated Kinases
4.Effects of Respiratory Training on Pulmonary Function and Motor Function for Patients with Parkinson's Disease
Kun-peng LI ; Zong-lei ZHOU ; Zi-nan ZHANG ; Bo-han SHI ; Hao CHEN ; Yun LUO ; Yan ZHU
Chinese Journal of Rehabilitation Theory and Practice 2021;27(3):320-324
Objective:To explore the effects of respiratory training on pulmonary and motor function for patients with Parkinson's disease. Methods:From January, 2018 to November, 2019, 60 inpatients with idiopathic Parkinson's disease from the Second Rehabilitation Hospital of Shanghai were randomly divided into control group (
5.Prevalence and influencing factors of depression and anxiety among 322 pregnant women in Jianyang City
Xin-ya MA ; Dan-dan YANG ; Yao-ming XU ; Rong-sheng LUAN ; Zhe-fei GAO ; Si-yi LI ; Jian-ping FAN ; Wen-qiang ZHANG ; Zong-lei ZHOU
Chinese Journal of Disease Control & Prevention 2020;24(1):109-113
Objective To analyze the prevalence and influencing factors of anxiety and depression among pregnant women in Jianyang City. Methods Convenience sampling method was used to select 322 pregnant women in Jianyang Maternal and Child Health Hospital of Jianyang City. The depression and anxiety of the participants were measured with self-rating anxiety scale(SAS) and self-rating depression scale(SDS),and the degree of social support was measured with social support rating scale (SSRS). Pearson correlation analysis was used to analyze the relationship between anxiety, depression and social support. The chi square ( 2) test and the non-conditional Logistic regression model were used to analyze the influencing factors of anxiety and depression. Results Anxiety rate and depression rate of pregnant women in Jianyang city were 5.3% and 5.6% respectively. There was a negative correlation between anxiety, depression and social support (P<0.05). Absence of prenatal examination (OR=4.554, 95% CI: 1.063-19.510) was a risk factor for anxiety among pregnant women in Jianyang City. Late pregnancy (OR=5.381, 95% CI: 1.422-20.363) and medium degree of social support (OR=4.150, 95% CI: 1.198-14.375) were risk factors for depression among pregnant women in Jianyang City. Junior high school (OR=0.015, 95% CI: 0.001-0.275), high school or technical secondary school (OR=0.004, 95% CI: 0.001-0.128), junior college or above (OR=0.053, 95% CI: 0.003-0.851) were protective factors for depression. Conclusions The prevelance of anxiety and depression in pregnant women cannot be ignored. It is important to carry out mental health intervention according to the above factors.
6.Research progress on the regulation of phenolic compounds of traditional Chinese herbs on oral microbes.
Ya-Wen ZONG ; Lei CHENG ; Qiang GUO ; Xue-Dong ZHOU ; Biao REN
West China Journal of Stomatology 2020;38(3):319-323
Phenolic compounds are widely found in natural Chinese medicinal plants and have excellent pharmacological properties, such as antioxidation and anti-inflammation. They are the main pharmacological components of many medicinal Chinese herbs. Oral microbiota, especially its composition and metabolism, is highly related to the balance of oral microecology and plays a key role in the occurrence and development of oral diseases. Recent studies have shown that phenolic compounds of traditional Chinese herbs can prevent and treat oral diseases, such as caries, periodontal disease, and oral mucosal infection, by regulating the composition, metabolites, and virulence of oral microorganisms. This review will summarize and discuss the regulation of phenolic compounds on oral microbes.
Antioxidants
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Drugs, Chinese Herbal
;
Medicine, Chinese Traditional
;
Phenols
;
Plants, Medicinal
7.Effects of silencing Rce1 in vitro on the invasion and migration of tongue carcinoma.
Jun-Jun SUN ; Yun-Ya TAO ; Yuan ZHOU ; Zong-Xuan HE ; Shan-Gui SHENG ; Qi-Min WANG ; Lei TONG ; Kai ZHAO ; Shao-Ru WANG ; Zheng-Gang CHEN
West China Journal of Stomatology 2019;37(2):143-148
OBJECTIVE:
This study aimed to explore the influence of Rce1 on invasion and migration of tongue squamous cell carcinoma cells by silencing the Rce1 gene with RNA interference.
METHODS:
The tongue squamous cell carcinoma Cal-27 and SCC-4 cells were cultured in vitro. The small interfering RNA (siRNA) of the Rce1 gene was designed, and the Rcel gene expression was silenced vialiposome transfection. According to the siRNA transfected by liposome, the experimental group was divided into three groups, namely, Rce1-siRNA-1, Rce1-siRNA-2, and Rce1-siRNA-3 groups. Negative control group was transfected by siCON, and the blank control group was untransfected by siRNA. The Rce1, RhoA, and K-Ras gene expression levels in each group were analyzed by real-time quantitative polymerase chain reaction. The Rce1, RhoA, K-Ras, MMP-2, and MMP-9 protein expression levels were analyzed by Western blot. The invasiveness of tongue cancer cell Cal-27 and SCC-4 were determined by Transwell invasion assay, and cell migration assay was performed by cell scratch assay.
RESULTS:
Real-time quantitative polymerase chain reaction and Western blot results showed that compared with the negative and blank control groups, the Rce1 gene and protein expression levels in three experimental groups decreased (P<0.05). The RhoA, K-Ras gene and protein expression levels were insignificantly different among groups (P>0.05). Meanwhile, the MMP-2 and MMP-9 expression levels decreased (P<0.05). Transwell invasion assay results showed that the total number of cells in the PET film of the experimental groups was significantly decreased compared with the control group (P<0.05). The cell scratch test showed that the cell closure time of the scratch in the interference group was significantly longer than those in the control and blank groups (P<0.05).
CONCLUSIONS
Silencing Rce1 in vitro can effectively downregulate its expression in tongue squamous cell carcinoma cells Cal-27 and SCC-4 and reduce the migration and invasion abilities of these cells.
Cell Line, Tumor
;
Cell Movement
;
Cell Proliferation
;
Endopeptidases
;
metabolism
;
Humans
;
Neoplasm Invasiveness
;
RNA Interference
;
RNA, Small Interfering
;
Tongue Neoplasms
;
metabolism
;
therapy
;
Transfection
8.Non-invasive detection of pancreatic cancer by measuring DNA methylation of Basonuclin 1 and Septin 9 in plasma
Li XIAO-BIN ; Ma JUN ; Liu ZI-WEN ; He WEN-FEI ; Li ZONG-ZE ; Cui MING ; Hao HUANG ; Zhou GUANG-PENG ; You LEI ; Wang JAMES ; Han XIAO-LIANG ; Zhao YU-PEI
Chinese Medical Journal 2019;132(12):1504-1506
9.Guiding-acupuncture for dry eye syndrome.
Wenzhang XIE ; Liang ZENG ; Ying TAO ; Yingfan ZHOU ; Ran ZHAO ; Xinyun HUANG ; Wenguang HOU ; Ren ZHANG ; Lei ZONG
Chinese Acupuncture & Moxibustion 2018;38(2):153-158
OBJECTIVETo observe the clinical efficacy differences between different needling methods for dry eye syndrome.
METHODSSixty patients of dry eye syndrome were randomly divided into an observation group and a control group, 30 cases (60 eyes) in each group. Shangjingming (Extra), Xiajingming (Extra), Tongziliao (GB 1), Cuanzhu (BL 2), Fengchi (GB 20), Hegu (LI 4), Sanyinjiao (SP 6), Taixi (KI 3) and Taichong (LR 3) were selected in the two groups. The control group was treated with conventional acupuncture, while the observation group was treated with guiding-acupuncture. Electroacupuncture (EA) was used at bilateral Tongziliao (GB1) and Cuanzhu (BL 2), 30 min per treatment. The treatment was given three times per week. Totally 1-month treatment (12 treatments) was given. The eye symptom score, breakup time of tear film (BUT), Schirmer Ⅰ test (SⅠT) and visual analogue scale (VAS) score were compared before and after treatment in the two groups. The clinical efficacy was compared between the two groups.
RESULTSCompared before treatment, the eye symptom score, BUT, SⅠT and VAS score were improved after treatment in the two groups (all<0.001); the improvements of eye symptom score and SⅠT in the observation group were superior to those in the control group (both<0.05). The differences of BUT and VSA score between the two groups were not significant (both>0.05). The total effective rate was 86.7% (52/60) in the observation group, which was superior to 73.3% (44/60) in the control group (<0.05). .
CONCLUSIONThe conventional EA and guiding-acupuncture combined with EA are both effective for dry eye syndrome, and the efficacy of guiding-acupuncture combined with EA is superior to that of conventional EA.
10.Analysis of Correlation of Insulin Resistance With Incidence and Recurrence of Colorectal Adenoma
Lei ZONG ; Wei WANG ; Shilin QIU ; Xinling ZHOU ; Shanming SUN
Chinese Journal of Gastroenterology 2018;23(10):606-610
Background:Reduction of incidence and recurrence rates of colorectal adenoma (CRA)are the keys for reducing the incidence of colorectal cancer. Studies have shown that insulin resistance is involved in this process. Aims:To investigate the correlation of insulin resistance with incidence and recurrence of CRA. Methods:Clinical data of 238 CRA patients were collected,and 200 patients with normal colonoscopy results were served as controls. Waist to hip ratio (WHR), fasting blood glucose (FPG),total cholesterol (TC),triglyceride (TG),high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C),adiponectin,fasting insulin (FINS),HOMA-IR were compared between the two groups. Correlation of insulin resistance with incidence and recurrence of CRA was analyzed. Results:WHR,FPG, TG,FINS,adiponectin and HOMA-IR were statistically different between CRA group and controls (P<0.05),however, no significant differences in BMI,DBP,TC,HDL-C,LDL-C were found between the two groups. Incidence rate of CRA (80.1% vs. 41.4%)and recurrence rate of CRA (62.4% vs. 46.3%)were significantly increased in patients with insulin resistance than those in patients without insulin resistance. Logistic regression analysis showed that family history, metabolic syndrome and HOMA-IR were independent risk factors for incidence of CRA (P <0. 05 ),and metabolic syndrome,family history of adenoma,adenoma number,adenoma size,pathological type and HOMA-IR were independent risk factors for recurrence of CRA (P<0.05). Conclusions:The incidence and recurrence rates of CRA are higher in patients with insulin resistance than those without insulin resistance.

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