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1.
Article in Chinese | WPRIM | ID: wpr-1009253

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome.@*METHODS@#A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis.@*RESULTS@#Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal.@*CONCLUSION@#The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.


Subject(s)
Humans , Female , Pregnancy , Fetus/abnormalities , Chromosomes, Human, Pair 8 , Karyotyping
2.
Article in Chinese | WPRIM | ID: wpr-1011062

ABSTRACT

Objective:To investigate the correlation between FCER2(2206A>G) gene polymorphism and the efficacy of inhaled corticosteroids(ICS) in patients with chronic rhinosinusitis(CRS). Methods:A total of 208 CRS patients were routinely treated with functional endonasal sinus surgery and postoperative ICS. DNA extraction, PCR amplification and gene sequencing were performed to observe the FCER2(2206A>G) gene polymorphism and calculate the allele frequency. The visual analog scale(VAS) score, Lund-Kennedy score, and computed tomography(CT) Lund-Mackay score were determined 6 months after surgery among patients with different genotypes. Moreover, the polymorphism frequency was compared among different subgroups(chronic rhinosinusitis with nasal polyps versus chronic rhinosinusitis without nasal polyps, eosinophilic chronic rhinosinusitis versus non-eosinophilic chronic rhinosinusitis). Results:There were FCER2(2206A>G) gene polymorphism in patients with CRS, and the phenotypes included 3 genotypes, AA, AG and GG, with distribution frequencies of 68(32.7%), 116(55.8%) and 24(11.5%) cases, respectively. No significant differences were found in age, VAS score, nasal endoscopic Lund-Kennedy score and CT imaging Lund-Mackay score among patients with CRS of each genotype before surgery. In patients with the AA genotype, the changes in VAS score(5.74±1.10), Lund Kennedy score(5.92 ± 1.14), and CT imaging Lund-Mackay score(13.26±4.26) were significantly higher than in patients with the AG(4.37±0.86, 5.37±1.24, 10.82±3.77) and GG(4.26±0.80, 5.18±1.56, 10.10±3.53) genotype(P<0.05). However, there were no marked difference between patients with the AG genotype and those with the GG genotype(P>0.05). Compared with patients with non-eosinophilic sinusitis, Among them, the differences between the GG genotype and AG /AA genes were more significant in eosinophilic sinusitis compared to non-eosinophilic sinusitis(P<0.01). Conclusion:The FCER2(2206A>G) gene in patients with CRS has genetic polymorphism and is associated with the recovery of CRS patients after surgery, individual corticosteroid sensitivity, and subgroup variability.


Subject(s)
Humans , Nasal Polyps/complications , Rhinitis/complications , Sinusitis/complications , Adrenal Cortex Hormones/therapeutic use , Polymorphism, Genetic , Endoscopy/methods , Chronic Disease , Receptors, IgE , Lectins, C-Type
3.
Article in Chinese | WPRIM | ID: wpr-754409

ABSTRACT

Objective: To determine the expression of TAZ and its role in angiogenesis in gastric carcinoma. Methods: Immunohistochemical staining was performed to investigate the expression of TAZ and to determine whether a direct relationship exists between TAZ and β-catenin. Transfection with TAZ overexpression plasmid in MKN28 cells was conducted to induce exogenous expression of TAZ and a TAZ knockdown plasmid was transfected into MGC803 cells to reduce TAZ levels. The effects on endothelial cell formation, proliferation, and migration were determined by Matrigel three-dimensional culture, MTT proliferation assay and Transwell migration assay. In addition, the expression of TAZ and β-catenin in transfected gastric cancer cells was detected by Western blot. Results: Immunohistochemistry showed that TAZ protein was expressed in 64 of 150 gastric cancer sample tissues (43%), TAZ was localized in the nucleus, and its expression was associated with tumor grade, TNM stage, metastasis, and microvessel density (MVD) (P<0.05). In addition, the expression frequency of β-catenin in the TAZ positive group was 67.2%, which was significantly higher than that in the TAZ negative group, and the expression of TAZ was positively correlated with β-catenin. After transfection, TAZ overexpression increased the expression of β-catenin and enhanced HUVECs tube formation, proliferation, and migration. In the MGC803 cells transfected with the knockdown plasmid, β-catenin levels were decreased and HUVECs motility was inhibited. Conclusions: TAZ may promote angiogenesis in gastric cancer by promoting β-catenin expression.

4.
Article in Chinese | WPRIM | ID: wpr-706806

ABSTRACT

Objective:To explore the diagnostic value of ultrasound-guided fine needle aspiration biopsy(US-FNAB)for thyroid nod-ules.Methods:The clinical characteristics and cytopathological diagnosis of patients with thyroid nodules in Tianjin Medical University General Hospital were analyzed retrospectively;the results of the cytopathological and pathological diagnoses were compared and an-alyzed.Results:Of the 1,241 US-FNAB samples,the ratio of men to women with thyroid nodules was 1:3.83(257/984).The incidence of thyroid nodules gradually increased from the age of 20 years and declined after the age of 60 years.The nodules,which were less than or equal to 1.0 cm in size,accounted for 51.57%(640 cases),and Thyroid Imaging Reporting And Data System(TIRADS)classifica-tion 4 accounted for 86.38%(1 072 cases).Of cyto-pathological diagnoses,22.00%(273 cases)were non-diagnostic,9.75%(121 cases) were benign,30.62%(380 cases)were atypia with undetermined significance,32.15%(399 cases)were suspicious for malignancy,and 5.48%(68 cases)were malignant.In the 302 patients who underwent surgery,the number of cases of clear diagnoses,unavailable di-agnoses,and atypia of undetermined significance were 203,21,and 78,respectively.In the 203 cases of clear diagnoses,the sensitivi-ty,specificity,positive predictive value,negative predictive value,precision,and misdiagnoses following US-FNAB of thyroid nodules were 100.00%(201/201),50.00%(1/2),99.50%(201/202),100.00%(1/1),99.51%(202/203),and 0.49%(1/203),respectively.In the 78 cases that were atypia of undetermined significance,the malignancy rate was 70.51%.Whether the atypia of undetermined signifi-cance was malignant or not was related to the TIRADS classification(P<0.05),and not related to the age,sex,tumor size,or location of the nodules(P>0.05).Conclusions:US-FNAB has high diagnostic value for thyroid nodules and is worthy of being popularized widely.If it replaced some intra-operative frozen sectioning procedures,it may reduce intra-operative waiting time and financial burden of pa-tients.

5.
Article in Chinese | WPRIM | ID: wpr-807373

ABSTRACT

Objective@#To explore the therapeutic effects of dendritic cells (DC) modified by the dust-mite-allergen(Der p1) gene on mouse model of allergic rhinitis (AR).@*Methods@#DC modified by the Der p1 gene (Der p1-DC) were prepared.Using random number table, 24 Balb\c mice were divided into four groups: immature DC (imDC)/AR group, dexamethasone/AR group, Der p1-DC/AR group and control group, with 6 mice in each group.AR mouse model was built with Der p1 and the mouse model of AR was established.The AR mice were respectively given by abdominal injection of Der p1-DC, imDC and dexamethasone.Normal control mice were treated with physiologic saline.ELISA method was used for determining the content of IgE, IgG1and histamine in blood.The relative expression of mRNA of IL-4 and IL-13 on nasal mucosa with protein was analyzed by RT-PCR and Westen blot methods.All the data were statistically analyzed by SPSS 19.0 statistical software, and the variance analysis was used in multiple groups of average samples.@*Results@#The contents of IgE, IgG1 and histamine in the mice of Der p1-DC/AR group were lower than those in imDC/AR group ((0.560±0.110) OD 450 nm vs (1.150±0.280) OD 450 nm, (0.690±0.054) OD 450 nm vs (0.920±0.125) OD 450 nm, (4 145±670) pg/ml vs (7 685±669) pg/ml, t value was 4.80, 4.14, 9.16, respectively, all P<0.05), and the expression of IL-4 and IL-13 on nasal mucosa in Der p1-DC/AR group was remarkedly lower than those in imDC/AR group (0.41±0.25 vs 1.59±1.02, 0.26±0.01 vs 1.10±0.09, t value was 2.75, 22.72, respectively, all P<0.05). There was no statistically significant difference between the mice treated with Der p1-DC and dexamethasone group.@*Conclusions@#The results showed that Der p1-DC could reduce inflammation in AR mice and decrease the expression of IL-4 and IL-13. It suggested that Der p1-DC can be used in the immunotherapy of AR mouse.

6.
Article in Chinese | WPRIM | ID: wpr-809013

ABSTRACT

Objective@#To explore the effect of hydrogen-rich saline on the CD4+ CD25+ Foxp3+ Treg cells in a guinea pig model of allergic rhinitis (AR) and investigate the underling anti-inflammatory mechanism.@*Methods@#Using random number table, eighteen guinea pigs were divided into three groups (control group/AR group/HRS group, n=6 of each group). AR guinea pig model was built with ovalbumin and aluminum. The guinea pigs were injected with hydrogen-rich saline (HRS group) for ten days after sensitation. And control group was injected with equal normal saline at the same time. Number of sneezes, degree of runny nose and nasal rubbing movements were scored. Peripheral blood eosinophil count was recorded. The content of interleukin 10(IL-10) and transforming growth factor β (TGF-β) in the serum were detected by enzyme-linked immunosorbent assay (ELISA). Immunohistochemical method was taken to detect IL-10 and TGF-β in nasal mucosa. The proportion of CD4+ CD25+ Foxp3+ T cells in the CD4+ T cells of spleen and peripheral blood were determined with flow cytometry. SPSS 17.0 software was used to analyze the data.@*Results@#There was significant difference in symptom scores among them. The scores of AR group preceded control group, and HRS could decrease the scores of AR ((6.29±1.79) vs (1.01±0.71), (4.50±0.84) vs (6.29±1.79), F=24.725, all P<0.05). The highest number of eosinophils in the peripheral blood belonged to control group, and the number of eosinophils were dramatically reduced after HRS administration ((0.41±0.05)×109/L vs (0.25±0.03 )×109/L, (0.32±0.03)×109/L vs (0.41±0.05)×109/L, F=70.05, all P<0.05). The content of IL-10 and TGF-β in control group is peak ((86.88±17.17) pg/ml, (598.28±72.70) pg/ml, respectively), and compared with AR group, HRS also increased the expression of IL-10 and TGF-β of peripheral blood ((72.54±11.75) pg/ml vs (53.49±10.07) pg/ml, (530.23±57.15) pg/ml vs (482.69±65.96) pg/ml, F value was 28.357, 14.128, respectively, all P<0.05). The proportion of CD4+ CD25+ Foxp3+ Treg cells in controls exceeded HRS group and AR group (1.81%±0.10%, 1.29%±0.74%, respectively), and HRS treatment increased the ratio of CD4+ CD25+ Foxp3+ Treg cells than AR group of peripheral blood ((1.50%±0.11%) vs (1.15%±0.11%), F=168.96, P<0.05). But there was no significant diferences in splene tissue ((1.01%±0.08%) vs (0.98%±0.09%), F=97.381, P>0.05).@*Conclusion@#Both the number and the cytokine secretion of CD4+ CD25+ Foxp3+ Treg cells are decreased in AR group, HRS may inhibit inflammatory response and ameliorate AR via improving the number and the cytokine secretion.

7.
Article in Chinese | WPRIM | ID: wpr-476804

ABSTRACT

Objective:To investigate the correlations of Lauren classification and world health organization (WHO) classification of gastric cancer (GC) with microvascular density (MVD), matrix metalloproteinase-2 (MMP-2), matrix metalloproteinase-9 (MMP-9), vascular endothelial growth factor (VEGF), vascular endothelial growth factor receptor 1 (VEGFR1), vascular endothelial growth factor receptor 2 (VEGFR2), and p53. Methods:The clinical data of 89 patients with GC were collected. The collected specimens were categorized on the basis of Lauren classification and WHO classification. CD34/periodic acid-Schiff (PAS) double staining was performed to validate MVD. Immunohistochemistry was conducted to investigate the expression levels of MMP-2, MMP-9, VEGF, VEGFR1, VEGFR2, and p53. Results:MVD was not correlated with Lauren classification or WHO classification (P>0.05). Lauren typing was associated with the expression levels of MMP-9, VEGFR1, and p53 (P0.05). Cox proportional hazards model revealed that Lauren classification and WHO classification were the prognostic factors of overall survival (P<0.05). Conclusion:This research on tumor related factors, angiogenesis, and different classifications of GC may provide new methods to treat this disease.

8.
Article in Chinese | WPRIM | ID: wpr-749210

ABSTRACT

A case of vagus nerve invasion with disseminated herpes zoster was reported. Clinical manifestation of disseminated herpes zoster and vagus nerve injury. relevant imaging examination and laboratory examination can help to establish a preliminary diagnosis. Anti-virus, anti-infection and symptomatic treatment had been performed and showed good clinical efficacy.


Subject(s)
Aged , Humans , Male , Herpes Zoster , Pathology , Vagus Nerve , Pathology
9.
Article in Chinese | WPRIM | ID: wpr-402805

ABSTRACT

Objective: To investigate the effect of Twist, β-catenin and E-cadherin on the recurrence and metastasis of hepatocellular carcinoma (HCC) and its correlation with clinical prognosis.Methods; Immunohistochemical staining (SP) was conducted to detect the expression of Twist, β-catenin and E-cadherin in 97 hepatocellular carcinoma patients (49 with recurrence and metastasis and 48 without recurrence and metastasis).Results: The recurrence and metastasis of HCC were correlated with clinical stage (P=0.000), but were not correlated with sex or age (P=0.424, P=0.738).The abnormal expression of Twist and β-catenin in the recurrence and metastasis group was higher than that in the group without recur-rence or metastasis (,0=-0.000, P=0.000).The positive ratio of E-cadherin in the recurrence and metastasis group was lower than that in the group without recurrence or metastasis (P=0.027).The mean survival was 28.880±3.285 months in patients with positive expression of Twist and 31.477±3.359 months in patients with positive expression of β-catenin.The median survival time of them was 26 and 28 months, respctively.The mean survival was 44.603±3.521 months in patients without Twist expression and 42.009±3.720 months in patients without β-catenin expression.The median survival time of them was 49 and 45 months, respectively.The survival of patients with positive expression of Twist and β-catenin was shorter than that in patients without expression of Twist and β-catenin (P=0.002, P=0.029).The mean survival time and median survival time of patients with Twist and β-catenin expression were 44.514±3.447 months and 49 months, respectively, significantly higher than those in patients without Twist and β-catenin expression (P=0.002), which were 29.110±3.581 months and 25 months, respectively.Conclusion: The overexpression of Twist and β-catenin as well as decreased expression of E-cad-herin may play critical roles in the recurrence and metastasis of HCC and indicate poor prognosis.

10.
Article in Chinese | WPRIM | ID: wpr-403862

ABSTRACT

Objective: To investigate the influence of TGF-β and IFN-γ on the proliferation, migration and invasion of melanoma cells. Methods: Melanoma cells were cultured in vitro. When tumor cells were confluent about 80% degree, cytokines were added into cell culture media. The concentration of TGF-β and IFN-β was 5ng/mL and 10ng/mL, respectively. Melanoma cells were divided into free-cytokine group, TGF-β group,IFN-γ group, TGF-β and IFN-γ group. Tumor cells in each group were then incubated for 8h, 16h, 24h, 32h,40h and 48h, respectively. After incubation, fixing and staining with SRB, the optical densities and percentage viability were then determined by absorption at 540 nm (A 540). The scarification of tumor cells in each group on the surface was created by a 2001μL pipette tube. The motility of tumor cells in each group was assessed by measuring the distance between scarifications. The speed of the scuffing closure was monitored after 12h.The invasive ability of melanoma cells was observed by transwell cultivation. The tumor cells that invaded through the Matrigel and adhered to the bottom of the outside membrane were determined by absorption at 595 nm (A595). Gelatin zymography assay was used to examine the levels of matrix metalloproteinases-2 (MMP-2) and matrix metalloproteinases-9 (MMP-9) activity when the tumor cells were treated with cytokines after 24h. MMP-2 and MMP-9 activity was demonstrated by gradation in the sodium dodecyl sulfate polyacryl-amide gel electrophoresis (SDS-PAGE) gelatin. MMP-2 and MMP-9 activity was determined by Image analy-sis Software. Results: TGF-β promoted the proliferation, migration and invasion of melanoma cells (P<0.05).However, IFN-γ inhibited the proliferation, migration and invasion of melanoma cells (P<0.05). The effect weakened or disappeared when both of them were used (P>0.05). Conclusion: In vitro, TGF-β may affect the inhibitory effect of IFN-γ on the proliferation, migration and invasion of melanoma cells. This study provided a better understanding of the relationship between tumor and inflammatory factors and established a good ba-sis for future research.

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