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1.
Article in Chinese | WPRIM | ID: wpr-928410

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).@*METHODS@#Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents.@*RESULTS@#NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent.@*CONCLUSION@#The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.


Subject(s)
Child , Family , Female , Genetic Testing , Heterozygote , Humans , Infant , Intellectual Disability/genetics , Mutation
2.
Article in Chinese | WPRIM | ID: wpr-933409

ABSTRACT

Objective:To conduct a glucagon like peptide-1(GLP-1)controllability model rat by chemical genetics, and observe the impact of GLP-1 neuron excitability on appetite.Methods:Fifteen rats were evenly divided into Green fluorescent protein(GFP)group, HM3D group, and HM4D group. Various combinations of adeno-associated virus(rAAV)were injected into the nucleus tractus solitarius(NTS). rAAV-GLP-1-cre and rAAV-GFP-dio were administered in rats of GFP group. The rats of HM3D group were injected with rAAV-GLP-1-cre and rAAV-HM3D-mCherry-dio while rAAV-GLP-1-cre and rAAV-HM4D-mCherry-dio were injected in rats of HM4D group . The optimal dose of clozapine N-oxide(CNO)was selected based on feeding behavior and body weight changes of rats after intraperitoneal injection of different doses of CNO. The controllability of GLP-1 neurons was confirmed by comparing with intraperitoneal injection of saline. The number of activated GLP-1 neurons in the NTS area and the expression of POMC neurons in the hypothalamus were detected 30 minutes after CNO injection.Results:GLP-1 neurons in the NTS area of rats were successfully labeled. The rat of HM3D group revealed a decrease in food intake( P=0.021)while the rat of HM4D group showed an increase( P=0.002), when given 1 mg/kg of CNO, no changes at the dose of 0.5 mg/kg and 3.0 mg/kg. Immunofluorescence showed that the activity of GLP-1 neurons in NTS of GFP group was lower than that of HM3D group( P=0.022), and higher compared with that of the HM4D group( P=0.049). The expression of GLP-1 neurons in NTS and POMC neurons in the hypothalamus of the HM3D group after intraperitoneal injection of CNO was also higher than that in the HM4D group( P=0.003). Conclusion:Using chemical genetics technology, GLP-1 controllability model rat could be successfully established via injecting varying combinations of rAAV into the NTS area of rat. Injection of 1 mg/kg CNO can effectively activate or inhibit the neuron to regulate appetite.

3.
Chinese Journal of Biotechnology ; (12): 2541-2547, 2020.
Article in Chinese | WPRIM | ID: wpr-878509

ABSTRACT

Metagenomic sequencing provides a powerful tool for microbial research. However, traditional experimental DNA extraction process will inevitably mix with environmental microorganisms which float in the air. It is still unclear whether the mixed environmental microbial DNA will heavily affect the metagenomic results of samples with extremely low microbial content. In this study, we first collected environmental bacteria in the laboratory and quantified the mixed environmental microbial DNA content during DNA extraction based on a qPCR-based quantification assay. We then extracted DNA from pure water in order to determine the mixed microbial taxons during extraction under open environment. At last, we extracted total DNA from a skin sample in a Biosafety cabinet or under open laboratory environment, to assess the impact of the mixed environmental microorganisms on the metagenomic results. Our results showed that DNA extraction under open laboratory environment in Beijing region resulted in 28.9 pg contaminant, which may accout for 30% of total DNA amount from skin samples. Metagenomic analysis revealed that the main incorporated environmental taxons were Cutibacterium acnes and Escherichia coli. Tens of environmental bacteria were foisted in the skin DNA samples, which largely decreased the relative abundance of dominant species and thus deteriorated the result accuracy. Therefore, analyzing microbial composition of samples with extremely low DNA content should better performed under aseptic environment.


Subject(s)
DNA , DNA, Bacterial/genetics , Laboratories , Metagenomics , RNA, Ribosomal, 16S , Sequence Analysis, DNA
4.
Chinese Critical Care Medicine ; (12): 336-340, 2019.
Article in Chinese | WPRIM | ID: wpr-753965

ABSTRACT

Objective To explore the predictive value of heparin-binding protein (HBP) combined with sequential organ failure assessment (SOFA) score in patients with septic shock. Methods Seventy-eight patients with sepsis admitted to intensive care unit (ICU) of Henan Provincial People's Hospital from December 2016 to May 2017 were enrolled. Thirty healthy persons were enrolled as controls. The patient's gender, age, length of ICU stay, and blood culture results, white blood cell count (WBC), C-reactive protein (CRP), procalcitonin (PCT), blood lactate (Lac), HBP, SOFA score, acute physiology and chronic health evaluationⅡ(APACHEⅡ) score, organ failure and vasoactive agents usage within 24 hours of admission were recorded. The differences in the above indicators between the groups were compared, and the receiver operating characteristic (ROC) curve was drawn to evaluate the predictive value of HBP, SOFA score and their combination in patients with septic shock. Results All patients were enrolled in the final analysis, including 64 with sepsis and 14 with septic shock. Compared with the sepsis group, the proportion of patients with septic shock who were positive for blood culture, organ failure, and vasoactive agents was higher [57.1% (8/14) vs. 7.8% (5/64), 100.0% (14/14) vs. 65.6% (42/64), 100.0% (14/14) vs. 18.8% (12/64), all P < 0.01], SOFA and APACHEⅡscores were also higher (SOFA: 8.93±4.16 vs. 5.89±2.68, APACHEⅡ: 22.29±4.89 vs. 15.28±5.14, both P < 0.01);however, there was no significant difference in gender, age or length of ICU stay between the two groups. Compared with the healthy control group, HBP, PCT, CRP and Lac levels were significantly increased in the sepsis group and the septic shock group. HBP in the septic shock group was significantly higher than that in the sepsis group (μg/L: 120.33±43.49 vs. 68.95±54.15, P < 0.05), but there was no significant difference in PCT, CRP or Lac between septic shock group and sepsis group [PCT (μg/L): 1.42 (0.47, 46.00) vs. 0.71 (0.19, 4.50), CRP (mg/L): 102.90±78.12 vs. 102.07±72.15, Lac (mmol/L): 1.81 (1.14, 3.65) vs. 1.59 (1.17, 2.24), all P > 0.05]. It was shown by ROC curve analysis that the area under the ROC curve (AUC) of SOFA score for predicting septic shock was 0.715 [95% confidence interval (95%CI) = 0.540-0.890, P = 0.012], and when the optimal cut-off value was 7.5, the sensitivity was 64.3%, the specificity was 76.6%. The AUC of HBP was 0.814 (95%CI = 0.714-0.913, P < 0.001), and when the optimal cut-off value was 89.43 μg/L, the sensitivity was 78.6%, the specificity was 76.6%; when the two were combined, the AUC was 0.829 (95%CI = 0.724-0.935, P < 0.001), the sensitivity was 92.9%, and the specificity was 61.9%. Conclusion HBP can be used as a biological indicator for predicting septic shock, and the accuracy of predicting septic shock can be improved with the combination of SOFA score.

5.
Article in Chinese | WPRIM | ID: wpr-703369

ABSTRACT

Objective To investigate the effectiveness of three different anesthetic techniques in intraventricular catheterization and its effect on the survival rate of rats. Methods Thirty Wistar rats were equally allocated into 3 groups:chloral hydrate group,pentobarbital sodium group and isoflurane group. Intraventricular catheterization was performed in the rats after anesthesia with i. p. injection of chloral hydrate and pentobarbital sodium, and isoflurane inhalation, respectively. Levels of blood glucose were detected before and at 15 and 30 minutes and 1, 3, 7, 14, 28 days after anesthesia. Body mass and 24-hour food intake were recorded before and at 1, 3, 7 days after anesthesia. The onset time and effective time of anesthesia, operation time and the survival rates on 30 days of the rats were compared and analyzed. Results The onset time and effective time of anesthesia, and the operation time in the isoflurane group were shorter than that in the chloral hydrate group, while these parameters in this group were shorter than that in the pentobarbital sodium group. Blood glucose in the chloral hydrate group was apparently increased during the surgical operation, while the body mass, 24-hour food intake and blood glucose were decreasing since one day after operation, and all the rats in this group died during the 30-day observation, mainly, due to enteroplegia. Blood glucose in the pentobarbital sodium group was mildly increased after anesthesia, while the body mass, 24-hour food intake and blood glucose were mildly decreased at one day after operation and recovered within one week. In this group, 3 rats died of respiratory distress due to overdose anesthesia and one rat died during the 30 day-observation. The blood glucose in the isoflurane group was mildly increased after operation, while the 24-hour food intake and blood glucose did not markedly changed, the body mass was stably increased, and no rat died during the 30-day-observation. Conclusions Intraperitoneal injection of chloral hydrate is not suitable for intraventricular catheterization in rats. Intraperitoneal injection of pentobarbital sodium can be only carefully applied for intraventricular catheterization under poorly-limited conditions. Isoflurane inhalation anesthesia is recommended for intraventricular catheterization in rats.

6.
Acta Pharmaceutica Sinica B ; (6): 818-824, 2018.
Article in English | WPRIM | ID: wpr-690861

ABSTRACT

Three new thionic compounds, ()-2-(2-carboxyl-2-hydroxyethylthio)-ferulic acid (), ()-2-methoxy-4-(3-(methylsulfonyl)prop-1-en-1-yl)phenol (), and thiosenkyunolide C (), together with two new aromatic glycosides ( and ) were isolated from the rhizome of Hort. Two known compounds ( and ) were also obtained. Their structures were elucidated based on extensive spectroscopic data (UV, IR, 1D and 2D NMR, and HR-ESI-MS). Furthermore the absolute configurations were established by comparison of their calculated and experimental circular dichroism spectra and by a dimolybdenum tetraacetate [Mo(AcO)]-induced circular dichroism procedure. All compounds were evaluated against lipopolysaccharide (LPS)-induced NO production in BV2 cells, and compounds and showed strong inhibitory activities with IC values of 2.03 and 3.09 µmol/L, respectively (positive control curcumin, IC = 6.17 µmol/L). In addition, compound showed weak proteintyrosine phosphatase-1B (PTP1B) inhibitory activity.

7.
Article in Chinese | WPRIM | ID: wpr-513761

ABSTRACT

Skeletal muscle extracellular matrix (ECM) is the microenvironment for muscle cells to survive and function. Changes in ECM components and structure directly affect the activity and function of muscle cells. Pathological remodeling occurs to skeletal muscle ECM in insulin resistance, including collagen deposition, hyaluronan accumulation, activation of membrane protein integrin signaling path-way, and the imbalance of matrix metalloproteinases and tissue inhibitors of metalloproteinases, while all those would impair the tissue insu-lin sensitivity.

8.
Chinese Critical Care Medicine ; (12): 887-892, 2017.
Article in Chinese | WPRIM | ID: wpr-661741

ABSTRACT

Objective To explore the characteristic of early evaluation of patients with amplitude-integrated electroencephalogram (aEEG) on brain function prognosis after cardiopulmonary cerebral resuscitation (CPCR). Methods A retrospective analysis of the clinical data of patients with adult CPCR in intensive care unit (ICU) of Henan Provincial People's Hospital from March 2016 to March 2017 was performed. The length of stay, recovery time, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score, aEEG and Glasgow coma scale (GCS) within 72 hours were recorded. The main clinical outcome was the prognosis of brain function (Glasgow-Pittsburgh cerebral performance category, CPC) in patients with CPCR after 3 months. Relationship between aEEG and GCS and their correlation with brain function prognosis was analyzed by Spearman rank correlation analysis. The effects of aEEG and GCS on prognosis of brain function were evaluated by Logistic regression analysis. The predictive ability of aEEG and GCS for brain function prognosis was evaluated by receiver operating characteristic (ROC) curve.Results A total of 31 patients with CPCR were enrolled, with 18 males and 13 females; mean age was (41.84±16.96) years old; recovery time average was (19.42±10.79) minutes; the length of stay was (14.84±10.86) days; APACHE Ⅱ score 19.29±6.42; aEEG grade Ⅰ(normal amplitude) in 7 cases, grade Ⅱ (mild to moderate abnormal amplitude) in 13 cases, grade Ⅲ (severe abnormal amplitude) in 11 cases; GCS grade Ⅰ (9-14 scores) in 7 cases, grade Ⅱ (4-8 scores) in 14 cases, grade Ⅲ (3 scores) in 10 cases; 19 survivals, 12 deaths; the prognosis of brain function was good (CPC 1-2) in 8 cases, and the prognosis of brain function was poor (CPC 3-5) in 23 cases. There was no significant difference in age, gender, recovery time, length of stay and APACHE Ⅱ score between two groups with different brain function prognosis, while aEEG grade and GCS grade were significantly different. Cochran-Armitage trend test showed that the higher the grade of aEEG and GCS, the worse the prognosis of CPCR patients (bothP-trend < 0.01). With the increase in GCS classification, the classification of aEEG was also increasing (r = 0.6206,P = 0.0003). Both aEEG and GCS were positively correlated with the prognosis of brain function (r1 = 0.7796,P1 < 0.0001;r2 = 0.7021,P2 < 0.0001). Univariate Logistic regression analysis showed that aEEG and GCS had significant effect on early brain function prognosis [aEEG: odds ratio (OR) = 37.234, 95%confidence interval (95%CI) = 3.168-437.652,P = 0.004, GCS:OR = 12.333, 95%CI = 1.992-76.352,P = 0.007]; after adjusting for aEEG and GCS, only aEEG had significant effect on the early prognosis of brain function (OR = 26.932, 95%CI = 1.729-419.471,P = 0.019). The ROC curve analysis showed that in the evaluation of the prognosis of CPCR patients with brain function, the area under ROC curve (AUC) of aEEG was 0.913, when the cut-off value of aEEG was 1.5, the sensitivity was 95.7% and the specificity was 75.0%. The AUC of GCS was 0.851, the best cut-off value was 1.5, the sensitivity was 91.3% and the specificity was 62.5%.Conclusion aEEG and GCS scores have a good correlation in the evaluation of brain function prognosis in patients with CPCR, the accuracy of aEEG in the early evaluation of the prognosis of patients with CPCR is higher than the GCS score.

9.
Chinese Critical Care Medicine ; (12): 887-892, 2017.
Article in Chinese | WPRIM | ID: wpr-658822

ABSTRACT

Objective To explore the characteristic of early evaluation of patients with amplitude-integrated electroencephalogram (aEEG) on brain function prognosis after cardiopulmonary cerebral resuscitation (CPCR). Methods A retrospective analysis of the clinical data of patients with adult CPCR in intensive care unit (ICU) of Henan Provincial People's Hospital from March 2016 to March 2017 was performed. The length of stay, recovery time, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score, aEEG and Glasgow coma scale (GCS) within 72 hours were recorded. The main clinical outcome was the prognosis of brain function (Glasgow-Pittsburgh cerebral performance category, CPC) in patients with CPCR after 3 months. Relationship between aEEG and GCS and their correlation with brain function prognosis was analyzed by Spearman rank correlation analysis. The effects of aEEG and GCS on prognosis of brain function were evaluated by Logistic regression analysis. The predictive ability of aEEG and GCS for brain function prognosis was evaluated by receiver operating characteristic (ROC) curve.Results A total of 31 patients with CPCR were enrolled, with 18 males and 13 females; mean age was (41.84±16.96) years old; recovery time average was (19.42±10.79) minutes; the length of stay was (14.84±10.86) days; APACHE Ⅱ score 19.29±6.42; aEEG grade Ⅰ(normal amplitude) in 7 cases, grade Ⅱ (mild to moderate abnormal amplitude) in 13 cases, grade Ⅲ (severe abnormal amplitude) in 11 cases; GCS grade Ⅰ (9-14 scores) in 7 cases, grade Ⅱ (4-8 scores) in 14 cases, grade Ⅲ (3 scores) in 10 cases; 19 survivals, 12 deaths; the prognosis of brain function was good (CPC 1-2) in 8 cases, and the prognosis of brain function was poor (CPC 3-5) in 23 cases. There was no significant difference in age, gender, recovery time, length of stay and APACHE Ⅱ score between two groups with different brain function prognosis, while aEEG grade and GCS grade were significantly different. Cochran-Armitage trend test showed that the higher the grade of aEEG and GCS, the worse the prognosis of CPCR patients (bothP-trend < 0.01). With the increase in GCS classification, the classification of aEEG was also increasing (r = 0.6206,P = 0.0003). Both aEEG and GCS were positively correlated with the prognosis of brain function (r1 = 0.7796,P1 < 0.0001;r2 = 0.7021,P2 < 0.0001). Univariate Logistic regression analysis showed that aEEG and GCS had significant effect on early brain function prognosis [aEEG: odds ratio (OR) = 37.234, 95%confidence interval (95%CI) = 3.168-437.652,P = 0.004, GCS:OR = 12.333, 95%CI = 1.992-76.352,P = 0.007]; after adjusting for aEEG and GCS, only aEEG had significant effect on the early prognosis of brain function (OR = 26.932, 95%CI = 1.729-419.471,P = 0.019). The ROC curve analysis showed that in the evaluation of the prognosis of CPCR patients with brain function, the area under ROC curve (AUC) of aEEG was 0.913, when the cut-off value of aEEG was 1.5, the sensitivity was 95.7% and the specificity was 75.0%. The AUC of GCS was 0.851, the best cut-off value was 1.5, the sensitivity was 91.3% and the specificity was 62.5%.Conclusion aEEG and GCS scores have a good correlation in the evaluation of brain function prognosis in patients with CPCR, the accuracy of aEEG in the early evaluation of the prognosis of patients with CPCR is higher than the GCS score.

10.
Acta Pharmaceutica Sinica B ; (6): 491-495, 2017.
Article in English | WPRIM | ID: wpr-256730

ABSTRACT

Two new compounds, named lyciumlignan D () and lyciumphenyl propanoid A (), along with seven known compounds, were isolated from the root bark of. Their structures were elucidated using spectroscopic data (UV, IR, HR-ESI-MS, 1D and 2D NMR, CD), as well as by comparison with those of the literature. Compounds-were isolated from this genus for the first time. In theassay, compounds,, andexhibited stronger anti-inflammatory effects than the positive control curcumin at a concentration of 10 μmol/L.

11.
Acta Pharmaceutica Sinica ; (12): 934-40, 2012.
Article in Chinese | WPRIM | ID: wpr-431028

ABSTRACT

The microbial transformation of buflomedil by Cunninghamella blakesleana AS 3.153 was studied, as well as a microbial model which can be used to mimic metabolism of buflomedil in mammal was established. Experiments were conducted to screen the capabilities of four strains of Cunninghamella species to transform buflomedil, in which C. blakesleana AS 3.153 was selected for a preparative biotransformation. Furthermore, the microbial model was established based on the transformation condition optimization. The parent drug and its metabolites produced by C. blakesleana AS 3.153 were detected by liquid chromatography-mass spectrometry method and three metabolites were identified while two of them were new found metabolites. Two major metabolites, para-O-desmethyl buflomedil and 12-C-oxidated buflomedil, were isolated by semi-preparative HPLC. Based on the comparison between different species, the microbial transformation of buflomedil by C. blakesleana AS 3.153 is more similar to the metabolism of buflomedil in human and Beagle dog than that in rat.

12.
Article in Chinese | WPRIM | ID: wpr-260666

ABSTRACT

Thirteen compounds were isolated from the flowers of Chrysanthemum indicum by chromatographic techniques. Their structures were elucidated by spectroscopic methods as acacetin-7-0-beta-D-glucopyranoside (1), luteolin (2), luteolin-7-O-beta-D-glucopyranoside (3), acaciin (4), acacetin 7-0-(6"-0-alpha-L-rhamnopyranosyl)-beta-sophoroside (5), 3-0-caffeoylquinic acid (6), syringaresinol 0-beta-D-glucopyranoside (7), 5,7-dihydroxychromone (8), uracil (9), p-hydroxybenzoic acid (10), 4-0-beta-D-glucopyranosyloxybenzoic acid (11), boscialin (12), blumenol A (13). Compounds 5, 7, 8, 11-13 were isolated from C. indicum for the first time.


Subject(s)
Chrysanthemum , Chemistry , Flowers , Chemistry , Organic Chemicals
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