1.Observation of effects of butorphanol and fentanyl for postoperative patients and its nursing
Xin-Zhi CHEN ; Jin-Xiang LIN ; Su-Fen LU ; Shang-Rong LI
Chinese Journal of Modern Nursing 2009;15(7):621-623
Objective To compare the effects of butorphanol and fentanyl for postoperative patient controlled intravenous analgesia (PCIA), and explore the different nursing measures. Methods 100 patients were randomly divided into two groups with 50 cases each:group A(butorphanol),and group B (fentanyl). The PCA model for both groups was set with background infusion 2 ml/h, bolus of 2 ml with lock time 15 min. The Blood Pressure(BP), heart rate(HR), analgesic score (VAS), sedation score, patient satisfaction, nausea, vomiting, respiratory, sleep quality, gastrointestinal peristalsis, urinary retention were observed at 4,12,24,36 hours after operation. Results Adequate analgesia and patient satisfaction were achieved in both groups. The sedation score was higher in group A than group B(P>0.05). There were higher incidence of nausea, vomiting among B group. Conclusions With close clinical observation and reasonable nuring care, butorphanol and fentanyl could both provide satisfactory analgesia and sedation effects. However, the sedation score was higher in butorphanol and nurses should pay attention to patients' sleep quality. There were higher incidence of nausea, vomiting among patients with fentanyl, so nurses should pay attention to prevent patients from respiratory depression.
2.Study clincal effects of oropharynx airway in post-thoracotomy patients with sputum drainage diffculties
Ding-Fen ZENG ; Ming-Fang XIANG ; Su-Lan ZHANG ; Rong LU ; Ding-Qiong XIAO
Chinese Journal of Modern Nursing 2011;17(19):2250-2253
Objective To evaluate the effectiveness of oropharynx airway in post-thoracotomy patients with sputum drainage difficulties. Methods 96 post-thoracotomy patients with sputum drainage difficulties were divided randomly into control group and test group: expectoration through oropharynx airway group and expectoration through nasal cavity group. Heart rate, blood pressure, PO2, SpO2, sputum suction time,successful intubation rate, effect of sputum suction and pulmonary associated complications before and after sputum aspiration between two groups were analyzed. Results There are significant differences in SpO2,PO2 , sputum suction time, successful intubation rate, effect of sputum suction and pulmonary associated complications before and after sputum aspiration between two groups ( t = 11. 16,11. 15, 15.20,8.18,6. 10,6.56,16.70,4.89 ;x2 = 5.76,4.44; P < 0. 05 ), while there are no significant differences in HR and BP (P >0. 05 ). Conclusions Sputum suction through oropharynx airway is benefit to keep airway clean,improve respiration and relieve hypoxia.
3.Application of ricin-immunotoxin mediated T cell depletion to allogeneic hematopoietic stem cell transplantation.
Yue-Yun LAI ; Nai-Lan GUO ; Xiao-Jun HUANG ; Lan-Ping XU ; Huan CHEN ; Su-Qin WANG ; Hai-Yin ZHENG ; Yan LI ; Bei-Fen SHEN ; Dao-Pei LU
Journal of Experimental Hematology 2004;12(3):270-273
This study was aimed to investigate the clinical outcome of ricin-immunotoxin mediated T cell partially depleted HLA/MLC mismatched allogeneic hematopoietic stem cell transplantation. 13 patients with hematological malignancies were treated by ricin-immunotoxin mediated T cell partially depleted allogeneic hematopoietic stem cell transplantations from HLA/MLC mismatched donors, including 6 cases of CML in CP(1), 1 case of ALL in CR(1), 1 case of ALL in CR(2), 1 case of ALL in relapse, 2 cases of AML in CR(1), 1 case of AML in CR(2), 1 case of MDS-RAEBT-AML (M(4)) in CR(1). The results showed that 8 cases were engrafted successfully, 2 cases of them developed grade II acute GVHD and 2 cases developed grade III-IV acute GVHD. Within following-up of 8 - 90 months, 2 patients who experienced grade III-IV acute GVHD died early after transplantation; 1 patient died of late onset of infection; the other 5 patients survived free from diseases. After failure at first infusion, 4 patients were given reinfusion of peripheral blood hematopoietic stem cells from the same donor. 3 out of 4 cases failed to engraft and only one patient got engraftment but died of related complications of transplantation. One patient was performed a second transplantation from a syngeneic donor and survive free of disease until now. In conclusion, T cell partially depleted HLA/MLC mismatched allogeneic hematopoietic stem cell transplantation by ricin-immunotoxin decreases the occurrence of severe acute GVHD but with high risk of rejection, which clinical outcome still needs further evaluation.
Adolescent
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Adult
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Child
;
Female
;
Graft vs Host Disease
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epidemiology
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Hematopoiesis
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Hematopoietic Stem Cell Transplantation
;
mortality
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Humans
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Immunotoxins
;
pharmacology
;
Lymphocyte Depletion
;
methods
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Male
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Ricin
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pharmacology
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T-Lymphocytes
;
drug effects
;
Transplantation, Homologous
4.Effect of L-alanyl-L-glutamine on expression of insulin-like growth factor-1 in intestinal tissues of low-birth-weight newborn rats with hypoxia/reoxygenation-induced intestinal injury.
Fen XU ; Chuan-Rui ZHU ; Yuan-Li ZHAN ; Guang-Jin LU ; Hao-Bin SU
Chinese Journal of Contemporary Pediatrics 2015;17(5):502-507
OBJECTIVETo study the effect of L-alanyl-L-glutamine (Ala-Gln) on the levels of insulin-like growth factor-1 (IGF-1) and IGF-1 receptor (IGF-1R) in the intestinal tissues of low-birth-weight (LBW) newborn rats with hypoxia/reoxygenation-induced intestinal injury.
METHODSPregnant rats were fed with or without smoking. The rats born by those fed without smoking were included in group A; for the rats born by those fed with smoking, normal-birth-weight rats were included in group B, and LBW rats were randomly divided into control group (group C), hypoxia/reoxygenation (H/R) group (group D), and Ala-Gln group (group E). Each group consisted of 24 newborn rats. The rats in groups D and E received H/R treatment twice a day for three consecutive days to establish an intestinal injury model; the rats in group E were intraperitoneally injected with Ala-Gln (10 ml/kg) before daily H/R treatment, while those in groups C and D were given an equal dose of normal saline by intraperitoneal injections. On days 4, 7, and 10 after birth, 8 rats were sacrificed in each group to collect intestinal tissues. The IGF-1 levels in intestinal tissues were measured using ELISA, and IGF-1R levels were measured by immunohistochemistry.
RESULTSThere were no significant differences in IGF-1 and IGF-1R levels between groups A and B at all time points. The levels of IGF-1 and IGF-1R in group C kept increasing, were higher than those in other groups on day 7 (P<0.05), and reached a normal level on day 10, without significant differences compared with those in groups A and B. Group D had significantly lower IGF-1 and IGF-1R levels than group C at all time points (P<0.05). The levels of IGF-1 and IGF-1R in group E were lower than those in group C on days 4 and 7 (P<0.05), but they increased to approximately the levels in group C and were significantly higher than those in group D on day 10.
CONCLUSIONSIntrauterine and postnatal hypoxia may induce intestinal injury in LBW newborn rats, and parenteral administration of high-dose Ala-Gln can reduce hypoxia-induced intestinal injury. Therefore, Ala-Gln has a protective effect against hypoxia-induced intestinal injury.
Animals ; Birth Weight ; Dipeptides ; pharmacology ; Female ; Hypoxia ; metabolism ; Insulin-Like Growth Factor I ; analysis ; Intestines ; chemistry ; Male ; Pregnancy ; Rats ; Rats, Sprague-Dawley ; Receptor, IGF Type 1 ; analysis
5.Polysaccharides extracted from the roots of Bupleurum chinense DC modulates macrophage functions.
Zhi-De ZHANG ; Hong LI ; Fen WAN ; Xiao-Yu SU ; Yan LU ; Dao-Feng CHEN ; Yun-Yi ZHANG
Chinese Journal of Natural Medicines (English Ed.) 2017;15(12):889-898
The present study aimed to investigate the effects of polysaccharides extracted from Bupleurum chinense DC (BCPs) on macrophage functions. In the in vivo experiment, 1 mL of 5% sodium thioglycollate was injected into the abdomen of the mice on Day 0 and macrophages were harvested on Day 4. The macrophages were cultured in plates and treated with different concentrations of BCPs and stimulus. Effects of BCPs on macrophage functions were assessed by chemotaxis assay, phagocytosis assay and Enzyme-Linked Immunosorbent Assay (ELISA). Our results showed the enhanced chemotaxis, phagocytosis and secretion of nitric oxide (NO) and inflammatory cytokines by macrophages when treated with BCPs. However, when chemotaxis and phagocytosis were up-regulated by complement components or opsonized particles, BCPs inhibited these effects. Also, the NO production induced by lipopolysaccharides (LPS) was suppressed by BCPs mildly. Moreover, BCPs had an inhibitory effect on the [Ca] elevation of macrophages. These results suggested that BCPs exerted modulatory effects on macrophage functions, which may contribute to developing novel approaches to treating inflammatory diseases.
Animals
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Bupleurum
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chemistry
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Chemotaxis
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drug effects
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Cytokines
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analysis
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metabolism
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Immunologic Factors
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pharmacology
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Immunomodulation
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drug effects
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Macrophages
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drug effects
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Mice
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Mice, Inbred BALB C
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Nitric Oxide
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analysis
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metabolism
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Phagocytosis
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drug effects
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Plant Extracts
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chemistry
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isolation & purification
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pharmacology
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Plant Roots
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chemistry
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Plants, Medicinal
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chemistry
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Polysaccharides
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isolation & purification
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pharmacology
6.Protective Effect and Mechanism of Kuntai Capsule on Angiotensin II -Induced Hypertension in Ovariectomized Rats.
Xiao-Fen GE ; Sha-Sha LI ; Yan-Hua LIU ; Mei-Qiu LU ; Hui-Na SU ; Xin YANG ; Xiao-Wan SUN
Chinese journal of integrative medicine 2023;29(6):526-533
OBJECTIVE:
To explore the protective effect and mechanism of Kuntai (KT) Capsule on angiotensin II (Ang II)-induced hypertension in ovariectomized (OVX) rats.
METHODS:
Fifty-four rats were randomly divided into 6 groups according to a random number table, 9 in each group: control, OVX sham+Ang II, OVX, OVX+Ang II, OVX+Ang II +E2, and OVX+Ang II +KT. OVX rats model was constructed by retroperitoneal bilateral ovariectomy. After 4 weeks of pretreatment with KT Capsule [0.8 g/(kg·d) and 17- β -estradiol (E2, 1.2 mg/(kg·d)] respectively, Ang II was injected into a micro-osmotic pump with a syringe to establish a hypertensive rat model. Blood pressure of rat tail artery was measured in a wake state of rats using a non-invasive sphygmomanometer. Blood pressure changes were compared between the intervention groups (OVX+Ang II +KT, OVX+Ang II +E2) and the negative control group (OVX+Ang II). Serum malondialdehyde (MDA) level and superoxide dismutase (SOD) activity were detected respectively. The expressions of oxidative stress-related protein superoxide dismutase2 (SOD2) and anti-thioredoxin (TRX), autophagy marker protein [beclin1, light chain (LC) 3 II/I ratio and autophagy canonical pathway protein phosphatidylinositol 3-kinase (PI3K)/serine/threonine kinase (AKT)-mammalian target of rapamycin (mTOR)] were evaluated by Western blotting.
RESULTS:
Compared with the OVX+Ang II group, the systolic blood pressure of OVX+Ang II +KT group was significantly lowered (P<0.05) but not the diastolic blood pressure. Besides, SOD2 and TRX protein levels in mycardial tissues were significantly reduced in the OVX+Ang II +KT group compared with the OVX+Ang II group (P<0.05). Oxidative stress serum markers MDA and SOD were down- and up-regulated in the OVX+Ang II +KT group, respectively (P<0.05). Compared with OVX+Ang II group, the levels of cardiac proteins beclin-1 and LC3II/LC3 I in OVX+Ang II +KT group were also up-regulated (P<0.05), and the expression levels of p-PI3K, p-AKT and mTOR protein were down-regulated (P<0.05).
CONCLUSION
KT could protect blood pressure of Ang II-induced OVX rats by inhibiting oxidative stress and up-regulating protective autophagy.
Female
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Rats
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Animals
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Humans
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Angiotensin II
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Phosphatidylinositol 3-Kinases
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Proto-Oncogene Proteins c-akt
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Hypertension/drug therapy*
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Estradiol/pharmacology*
;
Superoxide Dismutase
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Ovariectomy
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Mammals/metabolism*
7.Long-term quality of life after sepsis and predictors of quality of life in survivors with sepsis.
Ya-Xiao SU ; Lei XU ; Xin-Jing GAO ; Zhi-Yong WANG ; Xing LU ; Cheng-Fen YIN
Chinese Journal of Traumatology 2018;21(4):216-223
PURPOSETo evaluate the quality of life among survivors after sepsis in 2 years, comparing with critical patients without sepsis and the general people, analyze the changes and the predictors of quality of life among septic survivors.
METHODSThis prospective case-control study screened the intensive care unit (ICU) patients in Tianjin Third Central Hospital from January 2014 to October 2017, and the Chinese general population in the previous studies was also included. According to inclusion criteria and exclusion criteria, 306 patients with sepsis were enrolled as the observation group, and another 306 patients without sepsis in ICU during the same period, whose ages, gender and Charlson Comorbidity Index matched with observation group, were enrolled as the control group. At 3 mo, 12 mo, and 24 mo after discharge, the Mos 36-item Short Form Health Survey (SF-36), the Euroqol-5 dimension (EQ-5D), and the activities of daily living (ADL) were evaluated in face-to-face for the quality of life among survivors.
RESULTSThere were 210 (68.6%) septic patients and 236 (77.1%) non-septic critically ill patients surviving. At 3 months after discharge, the observation and control groups had the similar demographic characteristics (age: 58.8 ± 18.1years vs. 57.5 ± 17.6 years, p = 0.542; male: 52.0% vs. 51.4%, p = 0.926). However, the observation group had higher acute physiology and chronic health evaluation II (APACHEII) scores, higher sequential organ failure assessment (SOFA) scores, longer hospital stay, and longer ICU stay than the control group did (p < 0.05). There were no significant differences in the eight dimensions of the SF36 scale, the EQ-5D health utility scores, and the activities of daily life scores between septic survivors and non-septic survivors (p > 0.05). In addition, compared with the quality of life of the Chinese general population (aged 55-64 years), the quality of life of septic patients were significantly lower at 3 months after discharge (p < 0.05). Comparing the quality of life of the ill patients who had been discharged at 3 mo and 24 mo, the general health improved statistically (p = 0.000) and clinically (score improvement > 5 points). Older age (OR, 1.050; 95% CI, 1.022-1.078, p = 0.000), female (OR, 3.375; 95% CI, 1.434-7.941, p = 0.005) and longer mechanical ventilation time (OR, 3.412; 95% CI, 1.413, 8.244, p = 0.006) were the risk factors for the quality of life of septic survivors.
CONCLUSIONThe long-term quality of life of septic survivors was similar to that of non-sepsis critically ill survivors. After discharge, the general health of sepsis improved overtime. Age, female and mechanical ventilation time (>5 days) were the predictors of the quality of life after sepsis.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Prospective Studies ; Quality of Life ; Risk Factors ; Sepsis ; mortality ; psychology ; Survivors
8.Surveillance of bacterial resistance in tertiary hospitals across China:results of CHINET Antimicrobial Resistance Surveillance Program in 2022
Yan GUO ; Fupin HU ; Demei ZHU ; Fu WANG ; Xiaofei JIANG ; Yingchun XU ; Xiaojiang ZHANG ; Fengbo ZHANG ; Ping JI ; Yi XIE ; Yuling XIAO ; Chuanqing WANG ; Pan FU ; Yuanhong XU ; Ying HUANG ; Ziyong SUN ; Zhongju CHEN ; Jingyong SUN ; Qing CHEN ; Yunzhuo CHU ; Sufei TIAN ; Zhidong HU ; Jin LI ; Yunsong YU ; Jie LIN ; Bin SHAN ; Yunmin XU ; Sufang GUO ; Yanyan WANG ; Lianhua WEI ; Keke LI ; Hong ZHANG ; Fen PAN ; Yunjian HU ; Xiaoman AI ; Chao ZHUO ; Danhong SU ; Dawen GUO ; Jinying ZHAO ; Hua YU ; Xiangning HUANG ; Wen'en LIU ; Yanming LI ; Yan JIN ; Chunhong SHAO ; Xuesong XU ; Wei LI ; Shanmei WANG ; Yafei CHU ; Lixia ZHANG ; Juan MA ; Shuping ZHOU ; Yan ZHOU ; Lei ZHU ; Jinhua MENG ; Fang DONG ; Zhiyong LÜ ; Fangfang HU ; Han SHEN ; Wanqing ZHOU ; Wei JIA ; Gang LI ; Jinsong WU ; Yuemei LU ; Jihong LI ; Qian SUN ; Jinju DUAN ; Jianbang KANG ; Xiaobo MA ; Yanqing ZHENG ; Ruyi GUO ; Yan ZHU ; Yunsheng CHEN ; Qing MENG ; Shifu WANG ; Xuefei HU ; Wenhui HUANG ; Juan LI ; Quangui SHI ; Juan YANG ; Abulimiti REZIWAGULI ; Lili HUANG ; Xuejun SHAO ; Xiaoyan REN ; Dong LI ; Qun ZHANG ; Xue CHEN ; Rihai LI ; Jieli XU ; Kaijie GAO ; Lu XU ; Lin LIN ; Zhuo ZHANG ; Jianlong LIU ; Min FU ; Yinghui GUO ; Wenchao ZHANG ; Zengguo WANG ; Kai JIA ; Yun XIA ; Shan SUN ; Huimin YANG ; Yan MIAO ; Mingming ZHOU ; Shihai ZHANG ; Hongjuan LIU ; Nan CHEN ; Chan LI ; Jilu SHEN ; Wanqi MEN ; Peng WANG ; Xiaowei ZHANG ; Yanyan LIU ; Yong AN
Chinese Journal of Infection and Chemotherapy 2024;24(3):277-286
Objective To monitor the susceptibility of clinical isolates to antimicrobial agents in tertiary hospitals in major regions of China in 2022.Methods Clinical isolates from 58 hospitals in China were tested for antimicrobial susceptibility using a unified protocol based on disc diffusion method or automated testing systems.Results were interpreted using the 2022 Clinical &Laboratory Standards Institute(CLSI)breakpoints.Results A total of 318 013 clinical isolates were collected from January 1,2022 to December 31,2022,of which 29.5%were gram-positive and 70.5%were gram-negative.The prevalence of methicillin-resistant strains in Staphylococcus aureus,Staphylococcus epidermidis and other coagulase-negative Staphylococcus species(excluding Staphylococcus pseudintermedius and Staphylococcus schleiferi)was 28.3%,76.7%and 77.9%,respectively.Overall,94.0%of MRSA strains were susceptible to trimethoprim-sulfamethoxazole and 90.8%of MRSE strains were susceptible to rifampicin.No vancomycin-resistant strains were found.Enterococcus faecalis showed significantly lower resistance rates to most antimicrobial agents tested than Enterococcus faecium.A few vancomycin-resistant strains were identified in both E.faecalis and E.faecium.The prevalence of penicillin-susceptible Streptococcus pneumoniae was 94.2%in the isolates from children and 95.7%in the isolates from adults.The resistance rate to carbapenems was lower than 13.1%in most Enterobacterales species except for Klebsiella,21.7%-23.1%of which were resistant to carbapenems.Most Enterobacterales isolates were highly susceptible to tigecycline,colistin and polymyxin B,with resistance rates ranging from 0.1%to 13.3%.The prevalence of meropenem-resistant strains decreased from 23.5%in 2019 to 18.0%in 2022 in Pseudomonas aeruginosa,and decreased from 79.0%in 2019 to 72.5%in 2022 in Acinetobacter baumannii.Conclusions The resistance of clinical isolates to the commonly used antimicrobial agents is still increasing in tertiary hospitals.However,the prevalence of important carbapenem-resistant organisms such as carbapenem-resistant K.pneumoniae,P.aeruginosa,and A.baumannii showed a downward trend in recent years.This finding suggests that the strategy of combining antimicrobial resistance surveillance with multidisciplinary concerted action works well in curbing the spread of resistant bacteria.
9.Inverted U-Shaped Associations between Glycemic Indices and Serum Uric Acid Levels in the General Chinese Population: Findings from the China Cardiometabolic Disease and Cancer Cohort (4C) Study.
Yuan Yue ZHU ; Rui Zhi ZHENG ; Gui Xia WANG ; Li CHEN ; Li Xin SHI ; Qing SU ; Min XU ; Yu XU ; Yu Hong CHEN ; Xue Feng YU ; Li YAN ; Tian Ge WANG ; Zhi Yun ZHAO ; Gui Jun QIN ; Qin WAN ; Gang CHEN ; Zheng Nan GAO ; Fei Xia SHEN ; Zuo Jie LUO ; Ying Fen QIN ; Ya Nan HUO ; Qiang LI ; Zhen YE ; Yin Fei ZHANG ; Chao LIU ; You Min WANG ; Sheng Li WU ; Tao YANG ; Hua Cong DENG ; Jia Jun ZHAO ; Lu Lu CHEN ; Yi Ming MU ; Xu Lei TANG ; Ru Ying HU ; Wei Qing WANG ; Guang NING ; Mian LI ; Jie Li LU ; Yu Fang BI
Biomedical and Environmental Sciences 2021;34(1):9-18
Objective:
The relationship between serum uric acid (SUA) levels and glycemic indices, including plasma glucose (FPG), 2-hour postload glucose (2h-PG), and glycated hemoglobin (HbA1c), remains inconclusive. We aimed to explore the associations between glycemic indices and SUA levels in the general Chinese population.
Methods:
The current study was a cross-sectional analysis using the first follow-up survey data from The China Cardiometabolic Disease and Cancer Cohort Study. A total of 105,922 community-dwelling adults aged ≥ 40 years underwent the oral glucose tolerance test and uric acid assessment. The nonlinear relationships between glycemic indices and SUA levels were explored using generalized additive models.
Results:
A total of 30,941 men and 62,361 women were eligible for the current analysis. Generalized additive models verified the inverted U-shaped association between glycemic indices and SUA levels, but with different inflection points in men and women. The thresholds for FPG, 2h-PG, and HbA1c for men and women were 6.5/8.0 mmol/L, 11.0/14.0 mmol/L, and 6.1/6.5, respectively (SUA levels increased with increasing glycemic indices before the inflection points and then eventually decreased with further increases in the glycemic indices).
Conclusion
An inverted U-shaped association was observed between major glycemic indices and uric acid levels in both sexes, while the inflection points were reached earlier in men than in women.
Aged
;
Asian Continental Ancestry Group
;
Blood Glucose/analysis*
;
China/epidemiology*
;
Cohort Studies
;
Diabetes Mellitus/blood*
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Female
;
Glucose Tolerance Test
;
Glycated Hemoglobin A/analysis*
;
Glycemic Index
;
Humans
;
Male
;
Middle Aged
;
Uric Acid/blood*
10.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
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Child
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China/epidemiology*
;
Cryptorchidism/genetics*
;
Disorders of Sex Development/genetics*
;
Female
;
Genital Diseases, Male
;
Genotype
;
Humans
;
Hypospadias/genetics*
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Male
;
Membrane Proteins/genetics*
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Penis/abnormalities*
;
Phenotype
;
Retrospective Studies
;
Steroid 21-Hydroxylase/genetics*