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Objective To explore specific magnetic resonance imaging(MRI)features of somatic symptoms in depression by comparing the differences of brain gray matter volume in depression patients with and without somatic symptoms using voxel-based morphometry(VBM).Methods A total of 52 depression patients were recruited and divided into somatic and no somatic symptoms group according to the patient health questionnaire-15 score(>9 and≤9,respectively).Forty gender-age-matched healthy volunteers were recruited as the control group.All subjects underwent MRI scanning.Imaging data were analyzed to explore the differences in brain gray matter between groups using VBM.Results Compared with control group,gray matter volume increased in the right superior temporal gyrus,and decreased in the right inferior orbitofrontal gyrus,right inferior temporal gyrus,left inferior orbitofrontal gyrus,and left superior temporal gyrus for depressive patients with somatic symptoms(P<0.001);gray matter volume increased in the right middle temporal gyrus,and decreased in the right superior temporal gyrus and right inferior temporal gyrus for depressive patients without somatic symptoms(P<0.001).Only the volume in the right tongue and left cingulate gyrus increased in depressive patients with somatic symptoms compared with that in patients without somatic symptoms(P<0.01).Conclusion VBM-MRI has demonstrated increased volume in the tongue and cingulate gyrus in the somatic symptoms of depression.
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Objective:To explore the risk factors for poor prognosis in patients with tuberculous meningitis (TBM), and establish their nomogram predictive models.Methods:Three hundred and fifty-eight patients with TBM, admitted to Department of Neurology, 940 th Hospital of Chinese People's Liberation Army Joint Logistic Support Force from January 2010 to February 2022, were chosen and divided into model group ( n=287) and validation group ( n=71) according to the simple random sampling at a ratio of 8:2. Their clinical data were retrospectively analyzed. Independent risk factors for poor prognosis of TBM were analyzed by least absolute shrinkage and selection operator (LASSO) and Logistic regression, and the risk factors were visualized by nomogram. Bootstrap method was used for 1 000 repeated samples for internal verification, and data from validation group were used for external verification. The discrimination and calibration of the models were evaluated by area under receiver operating characteristic (ROC) curve, calibration curve and Hosmer-Lemeshow goodness of fit test. Results:Multivariate Logistic regression analysis showed that mental symptoms ( OR=3.593, 95% CI: 1.790-7.211, P<0.001), limb weakness ( OR=3.087, 95% CI: 1.551-6.144, P=0.001), pulmonary infection ( OR=5.162, 95% CI: 2.373-11.227, P<0.001), improved British Medical Research Council (mBMRC) staging II ( OR=4.291, 95% CI: 2.037-9.039, P<0.001), mBMRC staging III ( OR=13.073, 95% CI: 3.352-50.975, P<0.001) were independent risk factors for poor prognosis in TBM patients. Consistency indexes indicated by area under ROC curves by internal verification and external verification were 0.880 and 0.823, respectively; the calibration curve coincided with the ideal curve, enjoying good Hosmer-Lemeshow fit ( P=0.546, P=0.401). Conclusion:Based on these 4 prognostic factors (mental symptoms, limb weakness, lung infection and mBMRC stages), the nomogram is helpful in predicting the risk of poor prognosis in TBM patients.
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It is the main method to save the ischemic penumbra and improve the nerve function for the patients with ischemic stroke to realize the vascular recanalization within the time window. However, the possible hyperperfusion after successful recanalization will result in neurological deterioration and poor outcome. This article reviews the risk factors for cerebral hyperperfusion after vascular recanalization.
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A pedigree with familial acanthosis nigricans presenting with atypical clinical symptoms was reported. The 4-year-old female proband began to develop black patches on the neck and abdomen since the age of 1 year, which had gradually spread to the lips and front of the trunk in recent years. Reflectance confocal microscopy of the abdominal skin showed downward extension and twisting of dermal papillary rings with formation of gully-like structures, and moderately to highly refractive particles in the dermal papillary rings. The proband′s father and grandmother had similar medical history, but the pigmentation spontaneously subsided with age, leaving only local thickened skin lines. Peripheral blood samples were collected from the proband, her parents and grandmother, and panel-based targeted sequencing of peripheral blood DNA was performed for the proband. Sequencing showed a missense mutation c.1949A>C (p.Lys650Thr) in exon 14 of the FGFR3 gene in the proband, and Sanger sequencing confirmed the presence of this mutation in the proband and her father and grandmother. A diagnosis of familial acanthosis nigricans was made.
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AMP-activated protein kinase (AMPK) is an energy sensor, which can regulate the energy metabolism of cells by regulating mitochondrial oxidation capacity and substrate utilization, affecting various pathways such as glucose and fatty acid transport. Recent studies have shown that energy metabolism disturbance is a "blasting fuse" leading to a series of secondary injuries after cerebral ischemia-reperfusion, including oxidative stress, acidosis, apoptosis, and excitotoxicity. AMPK participates in most pathophysiological processes of cerebral ischemia-reperfusion injury by regulating cellular energy metabolism. This article reviews the mechanism of action of AMPK signaling pathway in cerebral ischemia-reperfusion injury.
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The data of 1 case diagnosed with hyperphenylalaninemia (HPA) combined with Cornelia de Lange syndrome (CdLS) by neonatal screening in Newborn Disease Screening Center, Liaocheng Maternal and Child Health Hospital in February 2018 were analyzed retrospectively.The patient was a girl, 22 months old, with clinical features of specific facial appearance, excessive body hair (especially on the forehead and face), dark and thick hair on the head, a low hairline, a heavy and straight brow, lower ear positions, a small nose, a shallow philtrum, a simian line, strong and rhythmic heart sounds, no murmur in the precordial area, clear respiratory sounds of both lungs, purple marbling patterns on the whole body skin, a soft abdomen, and high muscle tension of limbs.The gene mutation c. 1256A>G(p.Q419R) of the polyclonal antibody( PAH) originated from the patient′s mother, while the mutation c. 4421G>A(splicing) derived from the patient′s father. SMC1A gene was X-linked dominant inheritance, and c. 1979_1980insTGAA was a spontaneous mutation.In this paper, the diagnosis and treatment of HPA and clinical and genetic variation characteristics of 23 CdLS cases in China were reviewed, so as to improve the knowledge of doctors about HPA combined with CdLS.
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Objective:To investigate the attention deficit/hyperactivity disorder(ADHD) like behavior of offspring mice induced by stress during pregnancy and its mechanism.Methods:Chronic unpredictable stress was applied to ICR pregnant mice in different gestational periods. The offspring mice were randomly selected and the behavior changes of each group were observed in open field experiment (CG: control group; SG1: cums stress stimulation from 8 to 14 days of gestation; SG2: cums stress stimulation from 15 days of gestation to childbirth). The plasma concentrations of GABA, its metabolic enzymes and dopamine were detected by ELISA.Results:The results of open field experiment showed that the total distance, the time of stay in central area, the speed in central area, and the speed in surrounding area in SG1 group, SG2 group and CG group were statistically significant ( F=8.30, 5.01, 8.05, 7.15, all P<0.05). The total distances of SG1 group and SG2 group were significantly longer than that of CG group ((5 221.07±469.95)mm, (4 825.63±545.49)mm, (3 781.17±111.34)mm, both P<0.05).The times of stay in central area of SG1 and SG2 groups were shorter than that in CG group ((5.95±3.32)s, (8.59±3.42)s, (11.10±3.61)s, all P<0.05). The speeds in central area of SG1 and SG2 groups were faster than that of CG group ((30.93±5.79)mm/s, (32.48±9.06)mm/s, (20.57±5.07)mm/s, all P<0.05).The speed in surrounding area in SG1 group was faster than that in CG group ((16.91±1.64)mm/s), (12.42±3.77)mm/s, P<0.05). ELISA results showed that there were significant differences in mice plasma GABA, GAD65, GAD67 and DA among CG group, SG1 group and SG2 group ( F=16.52, 6.42, 11.04, 7.26, all P<0.05).The plasma concentrations of GABA in SG1 group and SG2 group were lower than that in CG group ((3.70±0.80)μmol/L, (4.40±0.80)μmol/L, (6.06±1.01)μmol/L, all P<0.05).The plasma concentrations of GAD65 ((5.36±0.75)μg/L, (6.99±1.01)μg/L, P<0.05)and GAD67((10.52±1.09)μg/L, (9.84±1.35)μg/L, (12.83±1.67)μg/L, P<0.05)in SG1 group were lower than those in CG group. The plasma DA concentration in SG1 group ((82.81±8.59)ng/L) was higher than that in CG group ((69.43±9.42)ng/L, P<0.05) and SG2 group ((66.36±10.77)ng/L, P<0.05). Conclusion:Prenatal stress can induce ADHD-like behavioural phenotypes in offspring mice, which may be related to the influence of plasma GABA metabolism and DA concentration.
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Objective:To observe the change of the left ventricular(LV) wall shear stress (WSS) using vector flow mapping (VFM) in different segments at each phase of diastolic period among normal subjects.Methods:From August 2018 to March 2019, 200 healthy volunteers selected from the Physical Examination Center of the Second Affiliated Hospital of Harbin Medical University were recruited. The WSS values of LV segments at the same and at different phases[isovolumic relaxation period(D1), rapid filling period(D2), slow filling period(D3), atrial contraction period(D4)] in diastole were measured and analyzed.Results:①The relationships of the WSS of LV different segments at the same phase of diastolic period: The WSS values of anterior septum, posterior septum and posterior wall during D1, and the WSS values of posterior septum, posterior wall and inferior wall during D2 showed basal>middle>apical segments, the differences were statistically significant (all P<0.05). ②The changes of the WSS values of LV different segments during diastolic period: During D1-D2-D3-D4 period, the absolute values of WSS in anterior septum, posterior septum, anterior wall, lateral wall and inferior wall showed an increasing-decreasing-increasing trend. During D2-D3-D4 period, the absolute values of WSS in the posterior wall showed a decreasing-increasing trend. During D1-D2-D3-D4 period, the absolute values of WSS in the apical segment of anterior septum, basal and middle segments of posterior septum, basal, middle and apical segments of anterior wall, basal segment of lateral wall, the middle and apical segments of posterior wall, basal and middle segments of inferior wall all showed an increasing-decreasing-increasing trend, the difference was statistically significant (all P<0.05). Conclusions:The LV WSS in different segments at the same phase or in the same segment at the different phases in diastole exhibit a regular change and is consistent with the LV hemodynamic changes, which indicates that WSS can quantitatively reflect the hemodynamic changes of the LV in normal subjects.
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Objective@#To evaluate the efficacy of Xiaopi-Zhitong-Poyu decoction combined with gosserin sustained-release implant for the treatment of endometriosis after laparoscopy.@*Methods@#A total of 204 patients with endometriosis who met the inclusion criteria were divided into 2 groups by random number table methods, with 102 cases in each group. On the 5th day after the operation, the control group was subcutaneously injected with Gosserin sustained-release implant in the anterior abdominal wall on the basis of routine treatment, the observation group was added with Xiaopi-Zhitong-Poyu soup on the basis of the control group. Both groups were treated for 24 weeks and followed up for 3 years. The World Health Organization Quality of Life Scale-Brief Form Questionnaire (WHOQOL-BREF) was used to evaluate the quality of life of patients. The TCM symptom scores were used to evaluate the menstrual pain, waist sour bloated, thin stool, dizziness and abnormal menstruation. The FSH, E2 and LH was detected by full automatic serum analyzer, and the endomethal antibody (EMAb), matrix metalloproteinase-3 (mmp-3) and carbohydrate antigen 125(ca-125) were detected by enzyme labeling instrument. Clinical efficacy was evaluated and adverse reactions during treatment were recorded.@*Results@#The total effective rate was 93.1% (95/102) in the observation group and 80.4% (82/102) in the control group, with statistically significant differences (χ2=3.871, P=0.039). After treatment, scores in environmental field, life field, physiological field and social relation field in the observation group were all significantly higher than those in the control group (t values were 4.725, 4.930, 4.259, 4.571, all Ps<0.05). Scores of menstrual pain, waist sour bloated, thin stool, dizziness and abnormal menstruation in the observation group were all significantly lower than those of the control group (t values were 3.561, 3.457, 3.421, 3.652, 3.529, all Ps<0.05). After treatment, the serum FSH (1.48 ± 0.15 U/L vs. 2.98 ± 0.29) U/L, t=3.174), E2 (52.17 ± 5.25 pg/ml vs. 88.04 ± 8.23 pg/ml, t=3.141), LH (1.82 ± 0.18 U/L vs. 2.45 ± 0.25 U/L, t=3.372) levels in the observation group were significantly lower (P<0.05); Serum EMAb (0.23 ± 0.02 vs. 0.32 ± 0.03, t=3.763), MMP-3 (69.69 ± 6.68 μg/L vs. 82.57 ± 8.89 μg/L, t=3.890], the CA-125 (25.89 ± 2.78 U/ml vs. 61.43 ± 6.78 U/ml, t=3.652) levels in the observation group were significantly lower (P<0.05). The recurrence rates of the observation group were 4.2% (4/95), 7.4% (7/95), 12.6% (12/95) at 1, 2, and 3 years respectively, while those of the control group were 13.4% (11/82), 18.3% (15/82), 25.6% (21/82), respectively. The differences were statistically significant (χ2 values were 3.309, 3.911, 4.102, all Ps<0.05).@*Conclusions@#The Xiaopi-Zhitong-Poyu decoction combined with gosserin sustained-release implant can reduce the hormone level of patients with endometriosis after laparoscopic surgery, improve the content of markers of endometriosis, improve the quality of life and clinical efficacy of patients, and reduce adverse reactions.
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Objective To evaluate the efficacy of Xiaopi-Zhitong-Poyu decoction combined with gosserin sustained-release implant for the treatment of endometriosis after laparoscopy. Methods A total of 204 patients with endometriosis who met the inclusion criteria were divided into 2 groups by random number table methods, with 102 cases in each group. On the 5th day after the operation, the control group was subcutaneously injected with Gosserin sustained-release implant in the anterior abdominal wall on the basis of routine treatment, the observation group was added with Xiaopi-Zhitong-Poyu soup on the basis of the control group. Both groups were treated for 24 weeks and followed up for 3 years. The World Health Organization Quality of Life Scale-Brief Form Questionnaire (WHOQOL-BREF) was used to evaluate the quality of life of patients. The TCM symptom scores were used to evaluate the menstrual pain, waist sour bloated, thin stool, dizziness and abnormal menstruation. The FSH, E2 and LH was detected by full automatic serum analyzer, and the endomethal antibody (EMAb), matrix metalloproteinase-3 (mmp-3) and carbohydrate antigen 125(ca-125) were detected by enzyme labeling instrument. Clinical efficacy was evaluated and adverse reactions during treatment were recorded. Results The total effective rate was 93.1% (95/102) in the observation group and 80.4% (82/102) in the control group, with statistically significant differences (χ2=3.871, P=0.039). After treatment, scores in environmental field, life field, physiological field and social relation field in the observation group were all significantly higher than those in the control group (t values were 4.725, 4.930, 4.259, 4.571, all Ps<0.05). Scores of menstrual pain, waist sour bloated, thin stool, dizziness and abnormal menstruation in the observation group were all significantly lower than those of the control group (t values were 3.561, 3.457, 3.421, 3.652, 3.529, all Ps<0.05). After treatment, the serum FSH (1.48 ± 0.15 U/L vs. 2.98 ± 0.29) U/L, t=3.174), E2 (52.17 ± 5.25 pg/ml vs. 88.04 ± 8.23 pg/ml, t=3.141), LH (1.82 ± 0.18 U/L vs. 2.45 ± 0.25 U/L, t=3.372) levels in the observation group were significantly lower ( P<0.05); Serum EMAb (0.23 ± 0.02 vs. 0.32 ± 0.03, t=3.763), MMP-3 (69.69 ± 6.68 μg/L vs. 82.57 ± 8.89 μg/L, t=3.890], the CA-125 (25.89 ± 2.78 U/ml vs. 61.43 ± 6.78 U/ml, t=3.652) levels in the observation group were significantly lower (P<0.05). The recurrence rates of the observation group were 4.2% (4/95), 7.4% (7/95), 12.6% (12/95) at 1, 2, and 3 years respectively, while those of the control group were 13.4% (11/82), 18.3% (15/82), 25.6% (21/82), respectively. The differences were statistically significant ( χ 2 values were 3.309, 3.911, 4.102, all Ps<0.05). Conclusions The Xiaopi-Zhitong-Poyu decoction combined with gosserin sustained-release implant can reduce the hormone level of patients with endometriosis after laparoscopic surgery, improve the content of markers of endometriosis, improve the quality of life and clinical efficacy of patients, and reduce adverse reactions.
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Objectives To investigate the incidence of depression status and the related factors in patients with maintenance hemodialysis (MHD).Methods One hundred and forty three MHD patients were enrolled in the study.According to Hospital Anxiety and Depression Scale (HADS-D) score,50 patients (35.0%) were classified in depression group and 93 were in non-depression group.The basic clinical information,demographic characteristics and laboratory parameters were collected.Univariate analysis,Pearson correlation and hierarchical regression analysis were used to assess the related factors of depression status.Results The average HADS-D score in 143 MHD patients was 6.22 ± 2.35,and that in depression group and in non-depression group was 9.76 ± 3.85 and 3.64 ± 2.91,respectively.The prevalence of the symptoms in MHD patients varied from 15.9% to 98.4%,and the score of symptom burden was 12-136 (72.54 ± 34.86).Univariate analysis revealed that marital status (x2 =4.493,P =0.034),economic status (x2 =4.187,P =0.04),symptom burden(r =0.68,P < 0.001),symptom severity (r =0.59,P < 0.001) and social support (r =-0.38,P =0.002) were associated with the depression.Hierarchical regression analysis revealed that depression was associated significantly with symptom burden(β =0.546,P < 0.001),symptom severity (β =0.428,P < 0.001) and social support (β =0.205,P =0.032).Symptom burden and severity could explain 30.5% of the depression variance.Conclusions The prevalence of depression status is high in MHD patients,which is positively correlated with symptom burden.Among all influencing factors,symptom burden has the greatest impact on the depression status,and maybe an important predicting factor of depression.
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Objective To investigate the expression changes of astrocytic syntrophin in hippocampus from human mesial temporal lobe epilepsy (MTLE). Methods From April, 2015 to July, 2016, 17 cases of hippocampus, collected from temporal lobectomy, were divided into MTLE group (n=13) and non-MTLE group (n=4) according to hematoxylin and eosin staining, glial fibrillary acidic protein and neuronal nu-clei immunohistochemical staining. Immunofluorescence double labeling and immunofluorescence histochemistry were used to observe the expression of syntrophin. Results The proliferation of astrocytes increased and neurons reduced in the hippocampus of MTLE group. Syntro-phin was found in the membrane and foot processes of astrocyte, that was enriched along perivascular astrocyte end-feet domain in non-MTLE group, but lost in MTLE group. While the whole expression of syntrophin was more in MTLE group than in non-MTLE group (t=5.421, P<0.001). Conclusion The distribution of syntrophin in hippocampus astrocytes may be related to the development of MTLE.
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Objective To explore the expression of aquaporin 4 (AQP4) in primary and secondary cultured rat astrocytes. Methods Rat cortical astrocytes from a newborn (one day) Wistar rat were cultured. Astrocytes were identified with immunofluorescence staining of glial fibrilillary acidic protein (GFAP). The expression of AQP4 was determined with real-time quantitative polymerase chain reaction and immu-nofluorescence staining three, five, seven and nine days of primary culture, and nine days of secondary culture. Results The purity of GFAP-positive cells was more than 95%. The expression of AQP4 mRNA was found three days of primary culture, remained unchanged five days of primary culture (P>0.05), and increased seven and nine days of primary culture (P0.05). AQP4 immunofluorescence staining showed the same trend of AQP4 mRNA. Conclusion AQP4 may express since three days of primary culture in rat astrocytes in vitro, and increase slowly until nine days of primary culture.
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Objective To observe the rate of iris vessels exposure and analyze its relevant factors in normal full-term neonates.Methods A retrospective study.1855 normal full term neonates,including 947 boys and 908 girls,were enrolled.The mean gestational age (GA) was (38.84±1.10) weeks and mean birth weight (BW) was (3 396.52±402.08) g.There were 1235 neonates from normal term vaginal delivery,402 cases of cesarean delivery and 218 cases of forceps delivery.All neonates were examined with hand-held portable slit lamp biomicroscopy within 1 to 3 days after birth by two trained ophthalmologist respectively.Iris vessels exposure was defined as radial red blood vessels along iris fibers.Infants were divided into iris vessels exposure group and iris vessels unexposed group according to the findings of slit lamp biomicroscopy.78 infants with iris vessels exposure were followed up for 42 days after birth till the iris vessels can't be seen under microscope.The differences between the two groups were compared for gender,mode of delivery (MOD),GA,BW and body length (BL).Multiple logistic regressions were used to determine the factors related to iris vessels exposure.Results There were 298 neonates with iris vessels exposure among 1855 neonates and the rate was 16.1%.1557 neonates (83.9%) had unexposed iris vessels.There were no different in gender (x2=0.551) and MOD (x2=3.036) between iris vessels exposure group and unexposed group (P>0.05),while the differences in GA (x2=47.216),BW (t=4.603) and BL (t=3.936) between the two groups were statistically significant (P=0.000).Multiple logistic regression analysis revealed that only GA (β=-0.291,odds ratio=0.747,95% confidence interval:0.656-0.85 1,P=0.000) was correlated to iris vessels exposure significantly.The iris vessels couldn't be seen in 77 of 78 infants with iris vessels exposure when followed up to 42 days.Conclusions The iris vessels exposure in normal full-term neonates is frequently observed.There is a significant inverse correlation between GA and iris vessels exposure.
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Objective To compare the differences between the cell swelling of cultured astrocytes ( AST) from Wistar and Sprague-Dawley ( SD) rats after incubation with glutamate.Methods Primary cultured AST derived from the cerebral cortex of one-day-old Wistar or SD rats were prepared.The cultured AST received 1 or 10 mmol/L glutamate treat-ment for 48 h on the tenth day after subculture.The viability of AST was determined by lactate dehydrogenase ( LDH) kit to assess the cell injury, and the perimeter of AST was measured using Image Pro Plus software after glial fibrillary acidic protein immunofluorescence staining to evaluate the astrocyte swelling.Then, the expression of aquaporin 4 ( AQP4 ) in cultured AST was detected by quantitative reverse transcription polymerase chain reaction.Results No significant differ-ence was found in the LDH release after the glutamate treatment in cultured AST from these two strains (P>0.05).The perimeter of AST from normal Wistar rats was shorter than that from SD rats, but was longer after the treatment of glutamate (P<0.05).Meanwhile, AQP4 expression in the Wistar rats was significantly higher than that from SD rats after incuba-tion with 1 mmol/L glutamate ( P<0.05 ) .Conclusions These results suggeste that cultured AST from Wistar rats are more susceptible to glutamate-induced swelling than that from SD rats, and there are differences between the effects of glu-tamate on AQP4 expression in astrocytes of Wistar and SD rats.
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Objective To investigate the protective effect of methylene blue (MB) on blood-brain barrier (BBB) injury after focal cere-bral ischemia-reperfusion in rats. Methods 18 male Sprague-Dawley rats were randomly divided into sham-operated group (n=6), model group (n=6) and MB treatment group (n=6). The left middle cerebral arteries were occluded for 1 hour and reperfused. MB was infused intra-venously immediately after reperfusion (3 mg/kg) and again 2 hours post-reperfusion (1.5 mg/kg), while normal saline was administered in the model group. The sham-operated group was treated as same as the model group without occlusion and infusion. HE staining was used to observe the histological injury in the cortex around the infarcted region 47 hours after reperfusion, while albumin immunohistochemistry was used to evaluate the permeability of the BBB, and immunohistochemistry and double immunofluorescence staining were used to exam-ine the expressions of glial fibrillary acidic protein (GFAP) and aquaporin-4 (AQP-4). Results HE staining showed that cells and blood ves-sels were not intact in the cortex around the infarcted region in the model group and they were better in the MB treatment group. The expres-sions of the albumin, GFAP and AQP-4 were higher in the model group than in the sham-operated group (P<0.01), and were lower in MB treatment group than in the model group (P<0.05). The double immunofluorescence staining showed the colocalization of GFAP and AQP-4 in the astrocytes. Conclusion MB may ameliorate the BBB disruption induced by focal cerebral ischemia-reperfusion through reducing glio-cyte proliferation and down-regulation of AQP-4 expression in rats.
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Objective To screen the dual oxidase maturation factor 1 (DUOXA1) gene mutations in children with congenital hypothyroidism (CH) and thyroid goiter from Shandong Province,China,and to identify the gene mutation type and characteristics of DUOXA1 gene mutations in order to provide some evidence for gene diagnosis and therapy of CH.Methods A cohort of 52 cases of CH with thyroid goiter and 100 normal controls were selected according to neonatal screening system in Shandong Province whose genomic DNA was isolated from peripheral blood leukocytes with a standard phenol chloroform method.The whole coding sequence (CDS) of DUOXA1 gene was amplified with 8 pairs of sequence specific primers by using PCR.The PCR products were directly sequenced with Sanger sequencing to detect new mutations types of DUOXA1 gene.The sequencing data were compared to the DUOXA1 gene reference sequence(National Center for Biotechnology Information:RefSeq:NG_033105.1) to see if there was any mutation.Ax2 test was done for the gene frequency of discovered single nucleotide polymorphisms (SNP).Results There was no mutation in CDS of 52 CH patients with thyroid goiter and 100 normal controls.However,a SNP (rs75981505,c.398G > T) which was an missense mutation and could lead to a change of the codon from CGC to CTC,was found in 9 CH patients with thyroid goiter and 11 normal controls in the exon 7.The corresponding amino acid arginine was replaced by histidine(p.Arg133His).There was no significant difference in the SNP rate between CH patients with thyroid goiter and normal controls (17.3% vs 11.0%,x2 =1.24,P > 0.05).Conclusion DUOXA1 gene mutation rate is very low which may not be the main cause of CH patients with thyroid goiter in the population of Shandong Province.
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Objective To study the thyroid hormone receptor β(TRβ)gene mutation types and characteristics in children with congenital hypothyroidism(CH)and thyroid dysgenesis(TD)from Shandong Province,and to provide theoretical basis for gene diagnosis and prenatal diagnosis. Methods Sixty cases of TD patients of which genomic DNA were isolated from peripheral blood leukocytes were selected by neonatal screening system in Shandong Province. The exon 6 to 12 of TRβ gene were amplified with 8 pairs of sequence specific primers using PCR and the first generation of sequencing method(Sanger method)to detect mutation. The sequencing results were compared with the TRβ gene reference sequence[National Center for Biotechnology Information(NCBI)Reference Sequence:NC 000003. 12]to see whether there was a mutation. Results Analysis of TRβ in 60 cases of CH patients with TD revealed no mutation was demonstrated in exons 6 - 12,but 2 single nucleotide polymorphism(SNP)( rs 3752874,c. 735C ﹥ T;rs79220627, c. 162G ﹥ A)were detected. Through the analysis,the 2 SNP were all synonymous mutations(Phe→Phe;Ser→Ser), without the change of the amino acids. Conclusions TRβ mutation rate is very low,which may not be the main mutation type in CH patients with TD in Shandong Province.
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Objective To study the assosiation of angiopoietin-like protein 2 (ANGPTL2) to lower extremity arterial disease in type 2 diabetes mellitus.Methods A total of 360 type 2 diabetic patients were divided into three groups:without (group A),with mild to moderate (group B),and severe (group C) lower extremity arterial disease according to the ankle brachial index.And,120 healthy subjects serveed as control group.The levels of ANGPTL2,high sensitivity C-reactive protein (hsCRP),free fatty acid,biochemical index,and fasting insulin were detected.And,waist-to-hip ratio (WHR),body mass index (BMI),insulin resistance index were calculated.Results The level of ANGPTL2 was getting higher and higher as lower extremity arterial disease progressing.The level of ANGPTL2 in group B was higher than that in group A [1.27 (1.09,1.51) vs 0.88 (0.66,1.07) μg/L,P<0.05],and the level of ANGPTL2 in group C was higher than that in group B [1.70 (1.45,1.91) vs 1.27 (1.09,1.51)μg/L,P<0.05].Pearson correlation analysis showed that the ANGPTL2 level in serum positively correlated with hsCRP,BMI,WHR,cholesterol,low-density lipoprotein-cholesterol,fasting insulin,and insulin resistance index.Logistic regression analysis showed that the levels of ANGPTL2,hsCRP,and glycosylated hemoglobin were significantly associated with lower extremity arterial disease in type 2 diabetes mellitus.Conclusion It is possible that ANGPTL2 is one of the risk factors of lower extremity arterial disease in type 2 diabetes mellitus,and which is likely to be of great significance in the early prediction,disease assessment,and prognosis evaluation for lower extremity arterial disease in type 2 diabetes mellitus.
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@#Objective To examine the sensitivity of human glioblastoma multiforme cell line BT325 to 5 antineoplastic drugs, including cisplatin (DDP), teniposide (VM26), nimustine (ACNU), temozolomide (TMZ) and vincristine (VCR). Methods BT325 cells were incubated in DMEM with 10% or 20% fetal bovine serum (FBS) or without FBS respectively. The cell numbers were counted at 24 h, 48 h, 72 h,96 h, 120 h, and 144 h, then platting and growth curve were drafted. Cell counting kite-8 was used to detect the influence of 5 drugs with different concentrations on human glioma cell line BT325. Results DDP and VM26 significantly suppressed BT325 cells(>75%) viability in a dose-dependent manner, while VCR inhibited BT325 cells (50%) growth without dose-effect relationship. In contrast, ACNU and TMZwere not effective on the viability of BT325 cells. Conclusion BT325 cells were very sensitive to chemotherapeutic drugs DDP amd VM26.