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1.
Article in Chinese | WPRIM | ID: wpr-908223

ABSTRACT

Objective:To observe the effects of evidence-based humanistic care on psychological status and pregnancy outcome in high-risk parturient women.Methods:A total of 92 high-risk pregnant women admitted to the First People′s Hospital of Lianyungang City from January 2019 to January 2020 were selected. According to the method of drawing samples from a random number table, the control group (46 cases) was given care according to the clinical nursing path of childbirth, and the observation group (46 cases) implemented evidence-based humanistic care on this basis.Scores of Chinese Perceived Stress Scale(CPSS) and Self-rating Anxiety Scale(SAS) before and after the intervention, and cesarean section rate, neonatal asphyxia rate, 2 h and 24 h postpartum blood loss were compared.Results:After the intervention, CPSS score (12.28 ± 4.34) and SAS score (47.32 ± 6.61) in observation group were lower than those in control group (16.26 ± 3.39) and (53.60 ± 5.46) ( t values were 4.902, 4.968, P< 0.05); cesarean section rate and neonatal asphyxia rate in observation group were 23.91% (11/46), 2.17%(1/46) lower than 45.65%(21/46)and 19.57%(9/46) in control group ( χ2 values were 4.791, 5.954, P<0.05), and postpartum hemorrhage volume in 2 hours (173.63±61.46) ml and 24 h blood loss (246.37±67.24) ml were less than those in control group (272.45 ±57.92) ml and (368.34±72.47) ml ( t values were 7.936, 8.368, P<0.05). Conclusions:Evidence-based humanistic care can relieve the psychological pressure and anxiety of high-risk parturient women and improve their pregnancy outcome.

2.
Article in English | WPRIM | ID: wpr-897457

ABSTRACT

Platelet-derived growth factor receptor beta (PDGFRB) rearrangements play an important role in the pathogenesis of eosinophilia-associated myeloid/lymphoid neoplasms. Up to now, more than 70 PDGFRB fusions have been identified. Here, a novel PDGFRB fusion gene CSNK2A1-PDGFRB has been identified in myeloproliferative neoplasm (MPN) with eosinophilia by RNA-sequencing, which has been verified by reverse transcription polymerase chain reaction and Sanger sequencing. The new PDGFRB fusion partner gene CSNK2A1 encoded one of the two catalytic subunit of casein kinase II (CK2). To our knowledge, this is the first report on the involvement of CSNK2A1 in fusion genes, especially fusion with another kinase PDGFRB in MPN. In addition, the CSNK2A1-PDGFRB fusion retained the entire kinase domain of PDGFRB and response to imatinib at low concentration. The patient with CSNK2A1-PDGFRB was sensitive to imatinib treatment and acquired sustained complete remission.

3.
Article in English | WPRIM | ID: wpr-889753

ABSTRACT

Platelet-derived growth factor receptor beta (PDGFRB) rearrangements play an important role in the pathogenesis of eosinophilia-associated myeloid/lymphoid neoplasms. Up to now, more than 70 PDGFRB fusions have been identified. Here, a novel PDGFRB fusion gene CSNK2A1-PDGFRB has been identified in myeloproliferative neoplasm (MPN) with eosinophilia by RNA-sequencing, which has been verified by reverse transcription polymerase chain reaction and Sanger sequencing. The new PDGFRB fusion partner gene CSNK2A1 encoded one of the two catalytic subunit of casein kinase II (CK2). To our knowledge, this is the first report on the involvement of CSNK2A1 in fusion genes, especially fusion with another kinase PDGFRB in MPN. In addition, the CSNK2A1-PDGFRB fusion retained the entire kinase domain of PDGFRB and response to imatinib at low concentration. The patient with CSNK2A1-PDGFRB was sensitive to imatinib treatment and acquired sustained complete remission.

4.
Article in Chinese | WPRIM | ID: wpr-912498

ABSTRACT

Objective:To investigate the relationship between the E2 and E4 alleles of apolipoprotein E (apoE) gene and myocardial infarction (MI) in type 2 diabetes Mellitus (T2DM) patients, and to explore the relationship between apoE polymorphism and blood lipid metabolism.Methods:This case control study was conducted from August 2016 to March 2020 in China-Japan Friendship Hospital, 3 459 inpatients with T2DM were included including 3 044 patients without MI (T2DM group) and 415 patients with MI (T2DM+MI group). Real time fluorescent quantitative PCR was used to detect apoE polymorphism. Automatic biochemical analyzer was used to detect lipid levels. Logistic regression analyses were performed to determine the association of apoE with risk of MI in patients with T2DM.Results:(1) The frequency of E4 allele in T2DM+MI group (12.29%, 102/830) was significantly higher than in T2DM group (9.13%,556/6 088), while the frequency of E2 allele in T2DM+MI group (7.35%,61/830) was significantly lower than that in T2DM group (8.21%,500/6 088), P=0.012. Logistic regression analyses showed that E4 allele carrier (E3/E4+E4/E4) faced a higher risk for MI in T2DM patients ( OR=1.48, 95% CI 1.14-1.92, P=0.003), while E2 allele carrier(E2/E3+E2/E2)did not face a higher risk of MI in T2DM patients ( OR=0.88, P=0.642). (2) The levels of apoE polymorphism and blood lipid: The levels of TC, LDL-C and apoB increased in the order of E4 allele, wild type and E2 allele ( P<0.05). The levels of HDL-C, apoA1 and apoE decreased in the order of E4 allele, Wild type and E2 allele ( P<0.05). Conclusion:The E4 allele is a risk factor for MI in T2DM patients, and apoE polymorphism can affect blood lipid level in this patent cohort.

5.
Article in Chinese | WPRIM | ID: wpr-910569

ABSTRACT

Objective:To study the impact of preoperative serum HBV DNA levels on prognosis of hepatocellular carcinoma (HCC) patients undergoing hepatectomy with curative intent.Methods:The clinical data of patients with HCC treated by hepatectomy with curative intent at the Guangxi Medical University Cancer Hospital from January 2010 to December 2016 were retrospectively analyzed. According to the preoperative serum HBV DNA levels, patients were divided into three groups: the control group (HBV DNA negative), the low load group (<10 4 copy/ml) and the high load group (≥10 4 copy/ml). The clinical data of these patients were collected and long-term survival outcomes of these patients were followed-up. The Kaplan-Meier method was used to compare the overall survival (OS) and recurrence-free survival (RFS) rates among the three groups. Using the Barcelona clinic liver cancer classification (BCLC), patients with different serum HBV DNA levels were further divided into three subgroups: stage 0/A, stage B and stage C. The OS and RFS rates of patients in each of these subgroups were compared. Results:Of 1 180 patients who were enrolled in the study, there were 1 024 males and 156 females, aged (48.6±10.8) years. The 1-, 3- and 5-year OS rates for patients in the control group ( n=258) were 91.5%, 79.3% and 74.9%, respectively; while those in the low load group ( n=289) were 87.2%, 68.6% and 61.6%, respectively; and those in the high load group ( n=633) were 85.4%, 68.9% and 60.7%, respectively. The 1-, 3- and 5-year OS rates in the control group were significantly better than those in the low load group and the high load group ( P<0.05). The 1-, 2- and 3-year RFS rates in the control group were significantly higher than those in the high load group ( P<0.05). Subgroup analysis showed that in the BCLC 0/A subgroup ( n=786) the 1-, 3- and 5-year OS rates in the control group were significantly better than those in the high load group ( P<0.05). In the BCLC B subgroup ( n=181), the 1-, 2- and 3-year RFS rates in the control group were significantly higher than those in the high load group ( P<0.05). In the BCLC C subgroup ( n=214), there were no significant differences in the 1-, 3- and 5-year OS and 1-, 2- and 3-year RFS rates among the three groups ( P>0.05). Conclusion:For HCC patients undergoing hepatectomy with curative intent, the higher the preoperative serum HBV-DNA level, the worse the long-term survival outcomes.

6.
Article in Chinese | WPRIM | ID: wpr-884649

ABSTRACT

Objective:To investigate the risk factors for overall survival in operable hepatocellular carcinoma with portal vein tumor thrombus (PVTT-HCC) patients and establish a scoring system.Methods:Survival data in 253 PVTT-HCC patients were retrospectively analyzed in Guangxi Medical University Affiliated Tumor Hospital. Survival curves were analyzed using the Kaplan-Meier method and log-rank test. Cox stepwise regression analysis was used to identify independent preoperative risk factors affecting overall survival. A prognostic scoring system based on independent risk factors and their relative coefficients was established to screen patients with greater hepatic resection benefits, and the identification ability of the model was based on ROC.Results:A total of 253 patients with PVTT-HCC were enrolled in this study, there were 222 males and 31 females, with a median age 44 years. The median survival time in all patients was (13.00±2.15) months. Rate of overall survival was 51.8% at 1 year, 25.0% at 3 years and 17.7% at 5 years. Multivariable Cox regression analyses showed four risk factors including: AST≥40 U/L, ALP (≥80 U/L), tumor number (>1), and incomplete tumor capsule. A prognostic scoring system was established based on these variables. The area under curve of the scoring system was 0.780 (95% CI: 0.715-0.845). Patients were classified as low- or high-risk group for hepatic resection depending on whether their score was <3 ( n=77) or ≥3 ( n=176), respectively. High-risk patients had a median survival of 10 months, compared to 29 months in low-risk patients. Low-risk patients also had better survival rates at 1 year (75.3% vs 41.5%), 3 years (47.6% vs 15.2%), and 5 years (34.7% vs 10.5%), P<0.05. Conclusion:A prognostic scoring system for hepatic resection in PVTT-HCC patients has been developed based entirely on preoperative variables. Using this system, patients belong to the low risk group have better prognosis after surgery, which can provide a basis for surgical treatment of PVTT-HCC patients.

7.
Acta Physiologica Sinica ; (6): 1-9, 2021.
Article in Chinese | WPRIM | ID: wpr-878229

ABSTRACT

Astrocytes are a heterogenous group of macroglia present in all regions of the brain and play critical roles in many aspects of brain development, function and disease. Previous studies suggest that the B-cell lymphoma-2 associated X protein (BAX)-dependent apoptosis plays essential roles in regulating neuronal number and achieving optimal excitation/inhibition ratio. The aim of the present paper was to study whether BAX regulates astrocyte distribution in a region-specific manner. Immunofluorescence staining of SOX9 was used to analyze and compare astrocyte density in primary somatosensory cortex, motor cortex, retrosplenial cortex and hippocampus in heterozygous and homozygous BAX knockout mice at age of six weeks when cortical development has finished and glia development has reached a relatively steady state. The results showed that astrocyte density varied significantly among different cortical subdivisions and between cortex and hippocampus. In contrast to the significant increase in GABAergic interneurons, the overall and region-specific astrocyte density remained unchanged in the cortex when BAX was absent. Interestingly, a significant reduction of astrocyte density was observed in the hippocampus of BAX knockout mice. These data suggest that BAX differentially regulates neurons and astrocytes in cortex as well as astrocytes in different brain regions during development. This study provided important information about the regional heterogeneity of astrocyte distribution and the potential contribution of BAX gene during development.


Subject(s)
Animals , Astrocytes , Hippocampus , Interneurons , Mice , Neurons , bcl-2-Associated X Protein/genetics
8.
Journal of Clinical Hepatology ; (12): 343-347, 2021.
Article in Chinese | WPRIM | ID: wpr-873403

ABSTRACT

ObjectiveTo investigate the three-year follow-up outcomes of hepatocellular carcinoma patients undergoing liver resection (LR) versus liver transplantation (LT). MethodsA retrospective analysis was performed for 171 patients with hepatocellular carcinoma who underwent surgical treatment in Beijing YouAn Hospital, Capital Medical University, from March 2009 to March 2014, and according to the treatment method, they were divided into LR group(n=83) and LT group(n=88). Related clinical data were compared between the two groups. The chi-square test was used for comparison of categorical data between two groups; the Kaplan-Meier survival curve and the log-rank test were used for comparison of disease-free survival and overall survival between two groups, and the Cox proportional hazards model was used for the univariate and multivariate analyses of disease-free survival and overall survival. ResultsCompared with the LR group, the LT group had a significantly higher proportion of patients with single tumor [45.78% (38/83) vs 85.23% (75/88), χ2=29649,P<0.001], tumor size <3 cm [15.66% (13/83) vs 6705% (59/88), χ2=46.383,P<0001], or high Child-Pugh class [ 964% (8/83) vs 26.14% (23/88),χ2=7833,P=0.005] and a significantly lower recurrence rate of tumor [48.19%(40/83) vs 3295%(29/88) ,χ2=4121,P=0.042]. There was a significant difference in disease-free survival rate between the LR group and the LT group (46.02% vs 80.71%, P=0.006); the LT group had a higher overall survival rate than the LR group (86.99% vs 76.44%, P=0.219). Both univariate and multivariate analyses showed that treatment method was an independent risk factor for disease-free survival (risk ratio[RR]=3383,95% confidence interval[CI]: 1334-8579;RR=0239,95%CI:0093-0.612,both P<005), but the prediction of overall survival by treatment method did not reach statistical significance(P=0232). ConclusionLT is recommended for patients with early-stage hepatocellular carcinoma and can achieve a satisfactory three-year disease-free survival rate.

9.
Chinese Medical Journal ; (24): 154-164, 2020.
Article in English | WPRIM | ID: wpr-781627

ABSTRACT

BACKGROUND@#Gastric cancer (GC) is one of the most common malignancies, and intestinal-type GC is the main histopathologic type of GC in China. We previously reported that casein kinase 2 interacting protein 1 (CKIP-1) acts as a candidate tumor suppressor in intestinal-type GC. CKIP-1 participates in the regulation of multiple signaling pathways, including the Wnt/β-catenin pathway, of which caudal-related homeobox 1 (CDX1) may be a downstream target gene. The purpose of this study was to investigate the relationship between CKIP-1 and CDX1 in intestinal-type GC.@*METHODS@#Sixty-seven gastroscopy biopsy specimens and surgically resected gastric specimens were divided into four groups: gastric mucosa group, intestinal metaplasia (IM) group, dysplasia group, and intestinal-type GC group. The expression levels of CKIP-1 and CDX1 were detected in these groups and GC cell lines, and the correlations between these expression levels were analyzed. SGC7901 and BGC823 cells were divided into CKIP-1 shRNA groups and CKIP-1 over-expression groups, and CDX1 expression was detected. β-Catenin expression was detected in intestinal-type GC tissue samples and CKIP-1 shRNA and CKIP-1 over-expression SGC7901 cells, and its correlation with CKIP-1 expression in intestinal-type GC tissue was analyzed. The Wnt/β-catenin pathway inhibitor DKK-1 and activator LiCl were incubated with SGC7901 cells, BGC823 cells, and CKIP-1 shRNA and CKIP-1 over-expression SGC7901 and BGC823 cells, following which CDX1 and Ki-67 expression were detected.@*RESULTS@#The expression levels of CKIP-1 and CDX1 were lower in patients with intestinal-type GC than in patients with IM and dysplasia (both P < 0.05). CKIP-1 and CDX1 expression levels were positively correlated in IM, dysplasia, and intestinal-type GC tissue and cell lines (r = 0.771, P < 0.01; r = 0.597, P < 0.01; r = 0.654, P < 0.01; r = 0.811, P < 0.01, respectively). CDX1 expression was decreased in the CKIP-1 shRNA groups and increased in the CKIP-1 over-expression groups of SGC7901 and BGC823 cells compared to that in the corresponding control groups (both P < 0.05). CKIP-1 expression was negatively correlated with β-catenin expression in intestinal-type GC patients (r = -0.458, P < 0.01). Compared to the control group, β-catenin expression was increased in the CKIP-1 shRNA SGC7901 cell group and decreased in the CKIP-1 over-expression SGC7901 cell group (P < 0.05). CDX1 expression was increased in SGC7901 and BGC823 cells treated with DKK-1, DKK-1 increased CDX1 expression and decreased Ki-67 expression in the CKIP-1 shRNA group; the opposite result was observed in SGC7901 and BGC823 cells treated with LiCl, and LiCl decreased CDX1 expression and increased Ki-67 expression in the CKIP-1 over-expression group (both P < 0.05).@*CONCLUSIONS@#Through the Wnt/β-catenin signaling pathway, CKIP-1 may positively regulate CDX1 in intestinal-type GC.

10.
Article in Chinese | WPRIM | ID: wpr-868754

ABSTRACT

Objective To study the correlation between serum prealbumin level before liver resection and prognosis of patients with primary hepatocellular carcinoma (HCC).Methods The clinical data of patients with HCC who underwent liver resection at the Affiliated Tumor Hospital of Guangxi Medical University from August 2007 to October 2016 were retrospectively analyzed.The previous albumin of 200 mg/L and the pre-albumin as predicted by the maximum selection rank statistic method were used as the bounding group,and reduced groups and the correlation between pre-operative serum pre-albumin levels and clinicopathological characteristics were analyzed.The Kaplan-Meier method was used to calculate the overall survival rate of patients with the different cutoff levels.The Cox proportional regression model was used to analyze,and cirrhosis,alpha-fetoprotein levels and Barcelona Clinic Liver Cancer staging were used to adjust the relationship between serum prealbumin and prognosis of liver resection for HCC patients.Analysis of stratified variables was performed and their interactions with serum prealbumin were analyzed.Results Of the 2 022 patients included in this study,there were 1 739 males and 283 females.Their age was 49.5 ± 11.2 years.The median follow-up was 37.4 months.The optimal cutoff value of prealbumin predicted by the maximum selection rank statistic method was 166 mg/L.Regardless of the cutoff values of previous albumin 200 mg/L or prealbumin 166 mg/L,multivariate analysis showed that preoperative serum prealbumin level was an independent prognostic risk factor for patients (P <0.05).The prognosis of patients with >200 mg/L (> 166 mg/L) serum prealbumin before surgery was significantly better than that of patients with ≤200 mg/L (≤166 mg/L) prealbumin,the differences were significant (all P < 0.05).After adjusting for confounding factors,the prealbumin level correlated with prognosis of patients with HCC [cutoff value 200 mg/L:HR (95% CI) was 1.59 (1.35-1.86),cutoff value 166 mg/L:HR (95% CI) was 1.69 (1.44-1.98),all P < 0.05].The results of stratified analysis showed that the relationship between prealbumin levels and the prognosis of HCC patients became more robust.Conclusions Preoperative serum prealbumin was an independent risk factor for prognosis of HCC patients,and it had predictive value on prognosis of HCC patients.

11.
Article in Chinese | WPRIM | ID: wpr-799471

ABSTRACT

Objective@#To investigate the relationship between apolipoprotein E (APOE) gene polymorphism and cerebral infraction (CI) in Chinese type 2 diabetes mellitus (T2DM) patients.@*Methods@#This study included 245 samples of T2DM patients without cerebral infraction (CON group) (Male/Female, 128/117) and 270 samples of T2DM patients with cerebral infraction (CI group)(Male/Female, 145/125) from the department of endocrinology and neurology utilizing real-time fluorescence quantitative PCR technique. The t test and χ2 test were used to compare the differences between the two groups.@*Results@#Patients with a history of hypertension in the CI group (84.12%) were significantly higher than those in the CON group (70.42%) (χ2=15.91, P<0.05).The systolic blood pressure (142.78±20.52)mmHg of the CI group was significantly higher than that of the CON group (133.89±18.58)mmHg (t=-5.16, P<0.05).Compared with CON group, the frequency of genotypes of ε2/ε3 and ε3/ε4 in CI group was significantly higher, while the frequency of ε3/ε3 genotype was significantly lower (χ2=11.48, P<0.05); the allele frequency of APOE ε4 was higher while ε3 was lower in CI group than that in CON group (χ2=7.00, P<0.05). Logistic regression analysis showed that hypertension history (OR=1.95, P<0.05), high systolic blood pressure (OR=1.02, P<0.05), APOE genotypes of ε2/ε3 (OR=2.08, P<0.05) and ε3/ε4 (OR=1.85, P<0.05) were independent risk factors for cerebral infarction in T2DM patients.@*Conclusion@#The polymorphism of APOE gene may be related to cerebral infraction in Chinese T2DM patients.

12.
Article in Chinese | WPRIM | ID: wpr-866323

ABSTRACT

Objective:To study the effect of sedative combined with cis-atracurium in rapid induction intubation in emergency department.Methods:From October 15, 2017 to April 15, 2019, 52 critically ill patients who needed tracheal intubation in emergency department of the People's Hospital of Changzhi were selected.And the patients were numbered according to the time sequence of enrollment, and then randomly divided into group A and group B according to the random number table, with 26 cases in each group.Group A was given sedatives combined with cis-atracurium to induce rapid intubation.Group B only received sedatives to induce intubation.The success rate of intubation, successful intubation time were compared between the two groups.Before and after endotracheal intubation, the heart rate, mean arterial blood pressure, pulse oxygen concentration and the change of catecholamine concentration were compared.Results:The success rate of intubation in group A was 100.0%, which in group B was 76.9%, the difference between the two groups was statistically significant (χ 2=12.15, P<0.05). The time required for successful intubation in group A was (5.2±0.8)s, which in group B was (8.5±2.5)s, the difference was statistically significant (χ 2=6.41, P<0.05). After intubation, the pulse oxygen concentration in group A was significantly increased compared with before intubation ( t=-7.99, P<0.05). After intubation, the heart rate, mean arterial pressure, and serum norepinephrine, dopamine levels in group A were reduced compared with before intubation, but there were no statistically significant differences (all P>0.05). The serum adrenaline level was higher compared with before intubation, but there was no statistically significant difference ( t=-1.03, P>0.05). In group B, the pulse oxygen concentration was significantly increased after intubation compared with before intubation ( t=5.74, P<0.05), but the heart rate, mean arterial pressure, and the change of blood catecholamine concentration levels in group B had no statistically significant differences ( P>0.05). Conclusion:In the airway management of critically ill patients in emergency department, the application of sedatives combined with cis-atracurium to rapidly induce intubation can improve the hypoxia symptoms of patients more rapidly and can keep patients' hemodynamics, catecholamine concentration is relatively stable, it has the characteristics of safety and efficiency.

13.
Article in Chinese | WPRIM | ID: wpr-864633

ABSTRACT

Objective:To investigate the effect of predictive nursing intervention on immune function, psychological state and self-efficacy of patients with advanced gastric cancer (AGC) in tumor immunotherapy.Methods:Fifty patients with AGC who underwent tumor immunotherapy from February 2016 to November 2018 were enrolled in the study. They were divided into two groups according to the principle of numerical randomization. The control group (25 cases) was routinely used. In the nursing mode, the observation group (25 cases) used predictive nursing intervention. The venous blood was collected at the time of admission, 1 day and 2 days before discharge, and the T lymphocyte subsets were measured. The Self-rating Anxiety Scale (SAS), the Self-rating Depression Scale (SDS), Self-Efficacy Scale, and Quality of Life were used to assess the patient's mental state, subjective feelings, and quality of life.Results:There were no significant differences in CD 3+, CD 4+, CD 8+ and CD 4+/CD 8+ between the two groups before intervention ( P>0.05). CD 3+, CD 4+, CD 8+ and CD 4+/CD 8+ after intervention was 0.576 3±0.071 7, 0.496 3±0.067 7, 0.292 1±0.061 4, 1.75±0.48 in the observation group and 0.552 4±0.074 2, 0.489 2±0.070 4, 0.294 1±0.062 5, 1.63±0.51 in the control group. There were significant differences in CD 3+, CD 4+, and CD 4+/CD 8+ between the two groups after intervention ( t values were 3.158, 1.954, 2.347, all P<0.05). There was no significant difference in SAS and SDS scores between the two groups before intervention ( P>0.05). The SAS, SDS score after intervention in the observation group was (51.4±4.2), (50.8±3.5) points, and (55.7±3.6), (56.5±4.0) points in the control group, there was significant difference between the two groups ( t values were 3.887, 5.362, all P<0.01). There was no significant difference in self-efficacy between the two groups and the total score ( P>0.05). The total score of self-efficacy after intervention was (137.7±14.4) in the observation group, and (121.5±11.8) points in the control group, there was significant difference between the two groups( t value was 4.351, P<0.01). The quality of life score was (52.5±13.4) points in the observation group and (45.3±11.0) points in the control group, there was significant difference between the two groups ( t value was 2.077, P<0.05). The excellent and good rate of the quality of life score was 76.0%(19/25) in the observation group, and 56.0%(14/25) in the control group, there was no significant difference between the two groups ( χ2 value was 2.228, P>0.05). Conclusions:Tumor immunotherapy for the treatment of patients with AGC uses predictive care and significantly relieves their mental state and self-efficacy, promotes the recovery of their physical functions and improves the quality of life.

14.
Article in Chinese | WPRIM | ID: wpr-826491

ABSTRACT

OBJECTIVE@#To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome.@*METHODS@#Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing.@*RESULTS@#The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously.@*CONCLUSION@#Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.

15.
Article in Chinese | WPRIM | ID: wpr-872891

ABSTRACT

Objective:To observe the therapeutic effect and mechanism of Cangxi Tongbi capsule on knee osteoarthritis (KOA) model rats. Method:Sixty 4-week-old SPF healthy male SD rats were randomly divided into blank group, model group, dimethyl sulfoxide (DMSO) group, Cangxi Tongbi capsule group, SB203580 group and Cangxi Tongbi capsule combined with SB203580 group. In addition to the normal group, the modified Hulth method was used to establish the koa model. After the model was established successfully, the Cangxi Tongbi capsule group was given 0.25 g·kg-1 Cangxi Tongbi capsule solution by gavage every day, the SB203580 group was given 0.015 g·kg-1 SB203580 solution by gavage, the Cangxi Tongbi capsule combined with SB203580 group was given a mixed solution containing 0.015 g·kg-1 SB203580 and 0.25 g·kg-1 Cangxi Tongbi capsule by gavage, the DMSO group was given 1% DMSO solution by gavage, the model group and blank group were given normal saline by gavage The stomach was killed and the material was taken after 4 weeks of drug intervention. The expression levels of interleukin-1β (IL-1β) and tumor necrosis factor-α(TNF-α)in the supernatant of peripheral blood were detected by ELISA. p38, p-p38, matrix metalloproteinase-13(MMP-13), Collagen Ⅱ mRNA and protein in p38 MAPK signal pathway were detected by Real-time fluorescence quantification PCR (Real-time PCR) and Western blot, and the localization expression of p-p38 was detected by immunohistochemistry. Result:Compared with normal group,the expression levels of p38,p-p38,MMP-13 in articular cartilage of the model group were up-regulated (P<0.01), the expression levels of CollagenⅡ was down-regulated (P<0.01). The contents of IL-1β and TNF-α in serum were significantly increased (P<0.01). Compared with model group, the expression levels of p38,p-p38,MMP-13 in articular cartilage of the Cangxi Tongbi capsule group, SB203580 group and Cangxi Tongbi capsule combined with SB203580 group were down-regulated (P<0.01), the expression levels of CollagenⅡ was up-regulated (P<0.01). The contents of IL-1β and TNF-α in serum were significantly decreased (P<0.01). Conclusion:Cangxi Tongbi capsule can effectively protect the cartilage of KOA rats, and its mechanism may be related to the targeted blocking of p38 MAPK signal pathway.

16.
Article in Chinese | WPRIM | ID: wpr-871874

ABSTRACT

Objective:To investigate the relationship between apolipoprotein E (APOE) gene polymorphism and cerebral infraction (CI) in Chinese type 2 diabetes mellitus (T2DM) patients.Methods:This study included 245 samples of T2DM patients without cerebral infraction (CON group) (Male/Female, 128/117) and 270 samples of T2DM patients with cerebral infraction (CI group)(Male/Female, 145/125) from the department of endocrinology and neurology utilizing real-time fluorescence quantitative PCR technique. The t test and χ 2 test were used to compare the differences between the two groups. Results:Patients with a history of hypertension in the CI group (84.12%) were significantly higher than those in the CON group (70.42%) (χ 2=15.91, P<0.05).The systolic blood pressure (142.78±20.52)mmHg of the CI group was significantly higher than that of the CON group (133.89±18.58)mmHg ( t=-5.16, P<0.05).Compared with CON group, the frequency of genotypes of ε2/ε3 and ε3/ε4 in CI group was significantly higher, while the frequency of ε3/ε3 genotype was significantly lower (χ 2=11.48, P<0.05); the allele frequency of APOE ε4 was higher while ε3 was lower in CI group than that in CON group (χ 2=7.00, P<0.05). Logistic regression analysis showed that hypertension history ( OR=1.95, P<0.05), high systolic blood pressure ( OR=1.02, P<0.05), APOE genotypes of ε2/ε3 ( OR=2.08, P<0.05) and ε3/ε4 ( OR=1.85, P<0.05) were independent risk factors for cerebral infarction in T2DM patients. Conclusion:The polymorphism of APOE gene may be related to cerebral infraction in Chinese T2DM patients.

17.
Article in Chinese | WPRIM | ID: wpr-746255

ABSTRACT

Objective To explore the interaction of angiotensin converting enzyme (ACE) insertion/deletion(I/D) polymorphism(rs1799752)with diabetic kidney disease (DKD) development as well as its interaction with smoking and obesity in Chinese type 2 diabetic mellitus (T2DM) using the improved experiment method. Methods From June 2016 to March 2018, 300 T2DM patients with DKD [DKD(+)] and 300 T2DM patients without DKD[DKD(-)] were selected from China-Japan Friendship Hospital. The improved Triple Primer Method that combined PCR with capillary electrophoresis was established in this study to detect the ACE genotype. The relevant clinical data as well as the frequencies of genotype and allele of ACE gene I/D polymorphism between two groups were statistically analyzed. Patients were further grouped based on smoking status and obesity for multivariate regression. Results Frequency of the DD genotype and D allele were significantly higher in DKD(+) group than in DKD(-) group [DD genotype:15.0% (45 cases) vs 7.3%(22 cases),χ2=10.8, P=0.004;D allele:36.5%(219 cases) vs 28.0%(168 cases),χ2=9.92, P=0.02]. Multivariate logistic regression analysis found that D allele of rs1799752 was associated with a significantly higher risk of DKD in both recessive model(OR=1.45, 95%CI:1.06-2.00, P=0.022 after adjustments) and additive model(OR=1.41, 95%CI:1.04-1.90, P=0.025 after adjustments). In the smoker group and the obese group, D allele showed significant relationship with DKD incidence (P<0.05 after adjustments) in both recessive model and dominant model. No such relationships were observed in non-smoker group and non-obese group (P>0.05). Conclusions I/D polymorphism of ACE gene is associated with the incidence of DKD in T2DM patients. DD genotype of the ACE gene is the risk factor for T2DM patients with DKD. D allele may increase DKD incidence in the presence of smoking and obesity.

18.
Article in Chinese | WPRIM | ID: wpr-744560

ABSTRACT

Objective To investigate the feasibility, safety and efficacy of excimer laser coronary atherectomy used in complex lesions, including in-stent restenosis, non-crossable or nonexpandable lesions, heavily calcified lesions without successful wire-exchange and saphenous vein grafts lesions. Methods From Jul 24, 2017 to Aug 24, 2018, 22 cases with 24 lesions were treated with excimer laser coronary atherectomy in Peking University People's Hospital, combined with or without IVUS/OCT, rotational atherectomy or other percutaneous coronary intervention instrument, and with or without stent implantation. Results The procedural success rate was 23/24. There was no complications in all cases. Drug-eluting stents were implanted in 19/24 of lesions. There were no major advent cardiovascular events, including death, acute ST-segment-elevation myocardia and pericardial tamponade recorded. Conclusions Excimer laser coronary atherectomy used in complex lesions is feasible, safe and efficient with satisfactory in-hospital short-term outcome.

19.
Article in Chinese | WPRIM | ID: wpr-752279

ABSTRACT

Objective To investigate the effects of 1,25-dihydroxy vitamin D3 [1,25 (OH)2D3] on food allergy(FA) in mice and its mechanism.Methods A total of 40 BALB/c mice were randomly divided into 5 groups,8 in each group,including control group (group C) and FA model group (FA group),according to the dose of 1,25 (OH)2 D3 intervention,the mice of the FA group were divided into FA0 group (0),FA1 group [10 μg/(kg · d)],FAm group [50 μg/(kg · d)] and FAh group[100 μg/(kg · d)].Egg albumin was used to establish a food allergy model,with different doses of 1,25 (OH)2D3 for gastric intervention,and the control group was replaced by 9 g/L saline.The serum levels of ovalbumin-immunoglobulin E(OVA-IgE),interleukin (IL)-9 and IL-17 of mice were measured by using enzyme linked immunosorbent assay after the last excitation,and HE staining and histopathological examination were carried out in the small intestine of mice.Results Compared with group C,FAo group and FAh group small intestinal mucosa in mice had different degrees of damage,partial peeling off,structure disorder,villi epithelial cell focal falls peeling off,necrosis,lamina propria edema,congestion,a large number of inflammatory cells infiltration,low but the FA1 group and FAm group had light mucosa damage,intestinal epithelial basically intact,with integrity,no congestion,edema,and inflammatory cells infiltration to a lesser degree.The mean concentrations of serum IgE,IL-9 and IL-17 in different groups were statistically significant (F =40.770,9.530,5.624,all P < 0.05).Compared with the FA0 group [(41.87 ±3.19) ng/L],the OVA-IgE of the FA1 group [(22.71 ±4.77) ng/L] and the FAm group [(16.34 ±2.81) ng/L] were significantly reduced (t =5.533,1 1.835,all P < 0.01),but there was no significant difference between the FAh group [(36.29 ± 6.52) ng/L] (t =1.673,P > 0.05).Compared with the FA0 group [(161.77 ±50.44) ng/L],the IL-9 levels of the FA1 group [(94.29 ± 18.79) ng/L] and the FAm group [(84.45 ± 30.88) ng/L] were significantly lower (t =3.267,3.366,all P < 0.01),while that of the FAh group [(36.29 ±6.52) ng/L] was not significantly lower (t =0.777,P >0.05).Compared with FA0 group [(81.55 ±29.37) ng/L],IL-17 levels of FAh group [(133.58 ± 47.05) ng/L] was significantly increased (t =2.653,P <0.05),while IL-17 level of FA1 group [(79.41 ± 25.15) ng/L] and FAm group [(58.81 ± 26.00) ng/L] were lower than that of FAo group [(81.55 ±29.37) ng/L],but the difference was not statistically significant (t =0.154,1.640,all P > 0.05).Conclusions Low,medium dose of 1,25 (OH) 2 D3 supplements can inhibit mice food allergies,but high doses of 1,25 (OH)2 D3 improve performance in mice food allergies,and 1,25 (OH)2 D3's influence on the secretion of IL-9 is one that influences mechanism of food allergy.

20.
Chinese Journal of Urology ; (12): 619-624, 2019.
Article in Chinese | WPRIM | ID: wpr-755499

ABSTRACT

Objective To study the constituents of urinary stones in patients in Zhejiang,and analyze the composition difference between patients from northern Zhejiang province and southern Zhejiang province.Methods From October 2012 to October 2018,clinical data of 4 423 urinary stone patients treated in Sir Run Run Shaw Hospital,the Second Affiliated Hospital of Wenzhou Medical University,and Huzhou First People's Hospital was retrospectively analyzed.Infrared spectrum was used to analyze urinary calculi constituents.Among 4 423 patients,there were 3 041 males and 1 382 females,male to female ratio was 2.2∶ 1,and the mean age was (51.2 ±16.5) years.There were 2 974 northern Zhejiang patients and 1 449 southern Zhejiang patients.High incidence age group was 41-60 years [48.2% (2 136/4 423)].The distribution characteristics of urinary calculi constituents in different groups of sex,age,and region were analyzed.Results Among the 4 423 cases,the mixed urinary stones were dominant in the urinary calculus [73.1% (3 235/4 423)],in which,the most component was the calcium oxalate monohydrate + calcium oxalate dehydrate + carbonated apatite [36.2% (1 604/4 423)];among the pure stones,the most component was the calcium oxalate monohydrate [16.3 % (719/4 423)].Carbonated apatite stones [70.1% (970/1 382) vs.61.0% (1 856/3 041),P <0.05] and magnesium ammonium phosphate stones [12.7% (176/1 382) vs.4.9% (150/3 041),P < 0.05] were both more prevalent in females than males,but uric acid stones[10.6% (325/3 041) vs.5.8% (81/1 382),P <0.05] were more common in males than females.The proportions of calcium oxalate stones[90.6% (961/1 060) vs.76.2% (935/1 227),P <0.05],carbonated apatite stones [77.6% (823/1 060) vs.50.7% (623/1 227),P < 0.05],and magnesium ammonium phosphate stones[9.1% (97/1 060) vs.6.5% (80/1 227),P <0.05] of 0-40 years group were all higher than > 60 years group,however,uric acid stones were more frequent in > 60 years group [3.5% (38/1 060) vs.17.0% (209/1 227),P < 0.05].The proportion of calcium oxalate stones in southern Zhejiang was lower than northern Zhejiang [79.0% (1 145/1 449) vs.89.4% (2 661/ 2 974),P < 0.05].However,carbonated apatite stones [71.5% (1 037/1 449) vs.60.1% (1 789/2 974),P < 0.05],magnesium ammonium phosphate stones [15.1% (220/1 449) vs.3.5% (106/ 2 974),P < 0.05],and uric acid stones [10.7% (156/1 449) vs.8.4% (250/2 974),P < 0.05] were more prevalent in southern Zhejiang than northern Zhejiang.Conclusions The distribution of constituents of urinary stones in Zhejiang was different in genders,age,and regions.Carbonated apatite stones and magnesium ammonium phosphate stones were more prevalent in females and young people,and uric acid stones were more common in males and old people.Calcium oxalate stones were more common in youths.Moreover,calcium oxalate stones were more frequent in northern Zhejiang,and carbonated apatite stones,magnesium ammonium phosphate stones and uric acid stones were common in southern Zhejiang.

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