1.A case of fructose-1, 6-bisphosphatase deficiency with delayed diagnosis for 7 years and review of literature
Mengjie YANG ; Yili LU ; Huiping WU ; Xiaoou SHAN
Chinese Journal of Endocrinology and Metabolism 2021;37(5):457-461
To report a case of fructose-1, 6-bisphosphatase deficiency child with delayed diagnosis for seven years, and review the literature. A 13-year-old boy presented with recurrent episodes of hypoglycemia after infection since 6 years old, he also had convulsion and short stature. The laboratory finding revealed ketotic hypoglycemia, lactic acidosis, transient elevated ALT and UA. The genetic analysis showed compound heterozygous mutations of c. 960-961insG and c. 355G> A in FBP1 gene. Among eighteen patients reported in China, 88.9% had convulsion, 16.7% had growth retardation, the average delayed diagnosis spent 2.8 years, which could result in permanent brain damage and high death risk. The most common mutation was c. 960-961insG, followed by c. 355G>A and c. 490G>A, these mutations maybe hot spot sites of FBPl gene in China.
2.Protective effect of total saponins from stems and leaves of Panax ginseng on cisplatin-induced kidney damage in mice and its mechanism
Xinyue HAN ; Zi WANG ; Wei LI ; Yinshi SUN ; Xinyue XU ; Shan TANG ; Huiping LI
Chinese Journal of Pharmacology and Toxicology 2017;31(2):151-158
OBJECTIVE To investigate the protective effect of total saponins from stems and leaves of Panax ginseng (GSLS) on cisplatin (CDDP)-induced kidney damage in mice and its possible mechanism. METHODS Thirty-two male ICR mice were randomly divided into normal control group, CDDP group, and GSLS(150 and 300)+CDDP groups. GSLS was administered to mice by oral gavage once a day for 7 d. On the 7th day, a single injection of CDDP 20 mg·kg-1 was given 1 h after GSLS 150 and 300 mg·kg-1 before GSLS 150 and 300 mg·kg-1 continued to be given for 3 d. Blood urea nitrogen (BUN) and creatinine (CRE) , catalase (CAT) in renal tissue, reduced glutathione (GSH), tumor necrosis factorα(TNF-α) and interleukin 1β(IL-1β) of cisplatin induced mice were detected after 72 h. HE and PAS staining were used to observe the renal histopathological changes;While TUNEL and Hoechst33258 staining were employed to observe apoptosis in kidney tissues. RESULTS Compared with normal control group, CDDP group had a significant reduction in relative body mass (P<0.05), and the level of GSH and CAT in kidney tissues (P<0.05). The level of CRE, BUN, TNF-α, and IL-1βin serum and renal indexes significantly increased (P<0.05, P<0.01), especially BUN and CRE that respectively doubled and quadrupled. CDDP group developed glomerulus swelling, renal tubular expansion and epithelial cell necrosis. Trans?parent tube type of tube cavity appeared, the nucleus pycnosis disappeared, but renal interstitial edema and inflammatory cell infiltration appeared. There was a large amount of glycogen deposition and high expressions of TUNEL positive cells and Hoechst33258 positive cells. Compared with CDDP group, the levels of BUN and CRE in GSLS treatment group significantly decreased (P<0.05, P<0.01) in serum, glycogen deposition was reducted and apoptosis of renal tubular epithelial cells decreased in kidney tissues (P<0.05). The level of TNF-α, IL-1β(P<0.05) and the degree of renal tissue necrosis were significantly reduced (P<0.05) in CDDP+GSLS 300 group, but there was a significant increase in the level of CAT and GSH (P<0.05). CONCLUSION GSLS can protect against mouse kidney injury induced by cisplatin. The mechanism may be related to oxidation, reduced inflammation reaction and resistance to apoptosis.
3.Antimicrobial and disinfectant resistance of pathogens isolated from hospi-tal environmental inanimate surfaces and hands of health care workers
Huiping WANG ; Hongjiang ZHANG ; Qi DONG ; Jie LIU ; Shan DUAN ; Junqi GE ; Zhonghua WANG
Chinese Journal of Infection Control 2016;15(12):921-925
Objective To investigate the types,antimicrobial resistance,and disinfectant resistance of pathogens isolated from hospital environmental inanimate surfaces and hands of health care workers (HCWs).Methods Pathogens isolated from hospital environmental inanimate surfaces and hands of HCWs in intensive care units and general wards in 16 hospitals in Beijing were performed bacterial identification,antimicrobial susceptibility testing,and disinfectant re-sistance testing. The carriage of antimicrobial resistance genes and disinfectant genes in pathogens were also detec-ted.Results A total of 979 specimens were collected from inanimate surfaces and hands of HCWs in 16 hospitals,75 (7.66% )pathogenic strains were isolated,78.67% of which were gram-negative bacilli. The top 3 pathogens were Pseud-omonasaeruginosa (P.aeruginosa,n= 24),Enterobactercloacae (E. cloacae,n= 14),and Klebsiella pneumoniae (K. pneumoniae,n= 4 ). One P. aeruginosa strain was resistant to aztreonam,gentamycin,tobramycin,ciprofloxacin,and levofloxacin;One E. cloacae strain was resistant to piperacillin,7 strains were resistant to nitrofurantoin;4 K. pneumoni-ae strains were all resistant to piperacillin,2 were resistant to cephalosporins,and 1 was resistant meropenem. P. aerugi-nosahad7drug-resistantgenes,positiverateofmirwas100.00% ;E.cloacaehad4drug-resistantgenes,positiveratesof tem 1and shv were both 100.00% ;K. pneumoniae had 5 drug-resistant genes,positive rates of shv and mir were both 100.00% . The resistant rates of P. aeruginosa and E. cloacae to chlorhexidine gluconate were 4.17% and 57.14% re-spectively,to trichloroisocyanuric acid were both 50.00% ,positive rates of drug-resistant genes (qacE△1-sul 1)were 79. 17% and 57.14% respectively;K. pneumoniae had no resistance to two kinds of disinfectant,dug-resistance gene was not found.Conclusion Multiple common pathogens which can cause healthcare-associated infection exist in hospital environ-mental inanimate surfaces and hands of HCWs,which are dominated by gram-negative bacilli,pathogens had resistance to antimicrobial agents and disinfectant in different degrees.
4.Analysis of risk factors related to the pathogenesis of urolithiasis of migrant workers in Zhongshan City
Jinhua HE ; Shan HUO ; Huiping RAO ; Ruiwen HUANG ; Bin YANG ; Chunchun WEI
Chinese Journal of Primary Medicine and Pharmacy 2013;20(15):2266-2268
Objective To explore the risk factors of urolithiasis incidence of migrant workers in Zhongshan,in order to provide the scientific evidence for preventing urolithiasis.Methods 1 630 workshop migrant workers and 1630 office white collar workers were selected as the subjects of this study.The questionnaire was conducted according to the age,gender,genetic factors,occupation,past illness factors,living environment,work environment factors,diet habit,the habit of drinking water survey,B ultrasound examination,the detection of blood uric acid.Results The incidence rate of urolithiasis was 6.53%,the incidence rate of workshop migrant workers was 8.28%,which was significantly higher than that of white collar 4.72% (x2 =16.972,P <0.01).Conclusion Work environment,eating habits,drinking habits,smoking and sweating are related risk factors of urolithiasis.
5.Effects of five proteins secreted by Chlamydia trachomatis on phagocytosis of mouse macrophages and dendritic cells
Shuping HOU ; Rong XU ; Congzhong ZHU ; Xiaoting LI ; Shijun SHAN ; Huiping WANG
Chinese Journal of Microbiology and Immunology 2018;38(6):401-406
Objective To analyze the effects of five proteins secreted by Chlamydia trachomatis on the phagocytosis of macrophages and dendritic cells derived from bone marrow cells of C3H/HeJ mice. Methods Glutathione S-transferase ( GST)-CT311, GST-GIgA, GST-cHtrA, GST-OmcBc and GST-Pgp3 proteins were prepared through an Escherichia coli prokaryotic expression system and purified by GST Mag-Beads. Chlamydia membrane protein GST-IncA was also prepared as a control. Proteins of interest were ob-tained by cleaving off GST-tag with PreScission protease. Macrophages (MΦ) and dendritic cells (DC) were prepared from bone marrow cells of C3H/HeJ mice and pretreated with either 100 μg/ml or 500 μg/ml of the above proteins. LPS was used as a control to testify the specificity of the proteins' functions. Four hours after pretreatment,fluorescent beads were added to culture media to evaluate the changes in phagocytosis with direct immunofluorescence assay. Results LPS and low concentration (100 μg/ml) of these proteins had no significant influence on the phagocytosis of DC and MΦ,while high concentration (500 μg/ml) of Pgp3, cHtrA and CT311 could significantly promote the phagocytosis of DC and MΦ. Conclusion Pgp3, cHtrA and CT311 can promote the in vitro phagocytosis of DC and MΦ,which may facilitate the in vivo dissemina-tion of Chlamyida trachomatis.
6.Genetic analysis of a juvenile with maturity-onset diabetes of the young type 12.
Yue LUO ; Jiahui JIN ; Liyi LI ; Huiping WU ; Xiaoou SHAN
Chinese Journal of Medical Genetics 2021;38(9):891-894
OBJECTIVE:
To explore the genetic basis for a juvenile with maturity-onset diabetes of the young type 12(MODY12).
METHODS:
High-throughput sequencing was carried out to screen for the variants. Candidate variant was verified by Sanger sequencing. Pathogenity of the variant was predicted by searching the genetic databases and analysis by using bioinformatic software.
RESULTS:
Genetic testing indicated that the patient and his mother have both carried a heterozygous c.3976G>A variant (p.Glu1326Lys) in exon 32 of the ABCC8 gene. Prediction of the protein structure suggested the variant to be deleterious. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be uncertain significance.
CONCLUSION
Whether the c.3976G>A variant of the ABCC8 gene is the cause of the disease in this patient or not depends on the functional studies and more case data. Above finding has enriched the spectrum of ABCC8 gene variants.
Diabetes Mellitus, Type 2/genetics*
;
Genetic Testing
;
Genomics
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Mutation
7. Infiltration of tumor associated macrophages in multiple myeloma and its clinical significance
Qianle GUI ; Yansheng WANG ; Shan HUANG ; Yang WAN ; Huiping WANG ; Zigang ZHU ; Manman LI ; Haiyan ZHU ; Qianshan TAO ; Yuanyuan SHEN ; Qing ZHANG ; Hui QIN
Chinese Journal of Hematology 2018;39(2):122-127
Objective:
To investigate the clinical significance of tumor associated macrophages (TAM) in multiple myeloma (MM) and the relationship with angiogenesis and immunosuppression.
Methods:
Seventy cases of MM patients diagnosed from August 2015 to June 2017 were enrolled in the study as experimental group, 20 cases of benign hematological diseases (13 with iron deficiency anemia and 7 with megaloblastic anemia) patients as control group. Immunohistochemical method was used to detect the expression of CD163, CD34 and VEGF in bone marrow samples, and flow cytometry was used to detect the proportion of regulatory T cell (Treg cells), ELISA was used to detect the level of IL-10, and the clinical features were analyzed.
Results:
①Among the 70 patients, there were 31 males and 39 females with a median age of 65 (50~78) years old. TAM infiltration density, microvascular density (MVD), VEGF expression level, Treg ratio and IL-10 level in bone marrow samples of 70 MM patients were significantly higher than those of benign hematological diseases (
8. Design of genital organ traction bag and its application in radiotherapy
Yan ZHU ; Huiping SHAN ; Yiqin YANG ; Chuanfeng WU ; Jian GUAN ; Rui HU
Chinese Journal of Practical Nursing 2019;35(33):2634-2637
Objective:
To investigate clinical application of self-designed organ traction bag in male genital immobilization during radiotherapy.
Methods:
The male patients in the Department of Radiation Oncology, Suzhou Municipal Hospital from August 2018 to June 2019 were immobilized by using organ traction bag. Clinical effect was evaluated by subjective and objective ways which were the location relationship between contents and reference field under visual observation and fluoroscopy, and setup errors by CBCT images.
Results:
A total of 11 patients were selected, including 3 seminoma, 2 low rectal carcinoma, 2 prostatic carcinoma, 4 pelvic lymph nodes and bone metastases, with mean age 57.18 years old. Patients received 273 times of treatment and 55 times of CBCT verifications in all. Analysis results that the setup errors of the whole group in upper and lower (Vrt), head and foot (Lng), left and right (Lat) directions are less than 0.5 cm, within acceptable clinical threshold. The contents under visual observation and fluoroscopy were not in reference field and were fixed well.
Conclusions
Organ traction bag provides stable effect on male genital immobilization while taking patients’ privacy and clinical operability into account. It has high clinical application value in radiotherapy involving male genital protection.
9. A study on urinary iodine levels and influencing factors of urban and rural residents in some areas of Gansu Province
Jie GAO ; Jingfang LIU ; Xulei TANG ; Songbo FU ; Lihua MA ; Caihong JIAO ; Weiming SUN ; Ying NIU ; Gaojing JING ; Qianglong NIU ; Nan ZHAO ; Yujuan LI ; Dan WU ; Pei SONG ; Huiping GUO ; Fang YANG ; Weiping TENG ; Zhongyan SHAN
Chinese Journal of Endemiology 2019;38(11):898-902
Objective:
To analyze the urinary iodine status of urban and rural residents in some areas of Gansu Province and its related influencing factors, and to provide certain references for scientific iodine intake of urban and rural residents in Gansu Province.
Methods:
Subjects in Gansu Province with normal thyroid function were recruited in the investigation of thyroid diseases and iodine nutritional status, conducted a questionnaire survey and measured height, weight, waist circumference, collected 1 urine sample, and tested their urinary iodine levels. The urinary iodine levels of different groups were compared based on different gender, region, age, body weight, the waist, and salt intaking. The affecting factors of urinary iodine levels were analyzed by multiple linear regression models.
Results:
Totally 1 964 subjects were recruited, including 1 099 males, and 865 females. The age was (41.23 ± 14.75) years old. The median urinary iodine of the selected group was 225.60 (158.80, 311.58) μg/L. The urinary iodine level of rural residents was significantly higher than that of urban residents [μg/L: 249.80 (180.58, 336.88)
10.Entinostat, a class I selective histone deacetylase inhibitor, plus exemestane for Chinese patients with hormone receptor-positive advanced breast cancer: A multicenter, randomized, double-blind, placebo-controlled, phase 3 trial.
Binghe XU ; Qingyuan ZHANG ; Xichun HU ; Qing LI ; Tao SUN ; Wei LI ; Quchang OUYANG ; Jingfen WANG ; Zhongsheng TONG ; Min YAN ; Huiping LI ; Xiaohua ZENG ; Changping SHAN ; Xian WANG ; Xi YAN ; Jian ZHANG ; Yue ZHANG ; Jiani WANG ; Liang ZHANG ; Ying LIN ; Jifeng FENG ; Qianjun CHEN ; Jian HUANG ; Lu ZHANG ; Lisong YANG ; Ying TIAN ; Hongyan SHANG
Acta Pharmaceutica Sinica B 2023;13(5):2250-2258
Entinostat plus exemestane in hormone receptor-positive (HR+) advanced breast cancer (ABC) previously showed encouraging outcomes. This multicenter phase 3 trial evaluated the efficacy and safety of entinostat plus exemestane in Chinese patients with HR + ABC that relapsed/progressed after ≥1 endocrine therapy. Patients were randomized (2:1) to oral exemestane 25 mg/day plus entinostat (n = 235) or placebo (n = 119) 5 mg/week in 28-day cycles. The primary endpoint was the independent radiographic committee (IRC)-assessed progression-free survival (PFS). The median age was 52 (range, 28-75) years and 222 (62.7%) patients were postmenopausal. CDK4/6 inhibitors and fulvestrant were previously used in 23 (6.5%) and 92 (26.0%) patients, respectively. The baseline characteristics were comparable between the entinostat and placebo groups. The median PFS was 6.32 (95% CI, 5.30-9.11) and 3.72 (95% CI, 1.91-5.49) months in the entinostat and placebo groups (HR, 0.76; 95% CI, 0.58-0.98; P = 0.046), respectively. Grade ≥3 adverse events (AEs) occurred in 154 (65.5%) patients in the entinostat group versus 23 (19.3%) in the placebo group, and the most common grade ≥3 treatment-related AEs were neutropenia [103 (43.8%)], thrombocytopenia [20 (8.5%)], and leucopenia [15 (6.4%)]. Entinostat plus exemestane significantly improved PFS compared with exemestane, with generally manageable toxicities in HR + ABC (ClinicalTrials.gov #NCT03538171).