ABSTRACT
Objective To summarize the prenatal diagnosis and genetic counseling of Turner syndrome fetuses with 46,X,i(X)(q10).Methods Two gravidas admitted to the Obstetrics and Gynecology Hospital of Dalian were enrolled in this study.One gravida,who was admitted in October 2016,was classified as high risk of Down syndrome based on prenatal serologic screening and systematic ultrasonography,which found remarkably shorter humeri and femora than fetus of the same gestations.The other was suggested to be monosomy X after non-invasive prenatal testing and admitted in November 2017.Fluorescence in situ hybridization (FISH) and karyotyping were performed for prenatal diagnosis.Peripheral blood karyotyping was also offered to the two women and their partners.Results FISH test for amniotic fluid did not find numerical abnormality in 13,18,21,and sex chromosomes in these two fetuses.Karyotype analysis showed that the two fetuses were both 46,X,i(X) (q10),while their parents were normal.Both cases were terminated after genetic counseling.Conclusions Prenatal serological screening,systematic ultrasonography and non-invasive prenatal testing may help to identify Turner syndrome fetus of 46,X,i(X) (q10).Timely and accurate prenatal diagnosis may prevent the affected fetus from being born.
ABSTRACT
Objective To investigate the clinical characteristics and prognosis of cognitive impair ment with transient ischemic attack (TIA)/minor stroke in elderly patients.Methods 115 elderly patients with TIA/minor stroke were enrolled prospectively from January 2015 March 2017,It is divided into two groups,including Non cognitive impairment group (55 cases) and non dementia vascular cognitive impairment (VCIND) group (60 cases),following for 1,3 and 6 months,com pared the clinical characteristics and the score of Montreal cognitive assessment (MoCA) scale.Results The plasma homocysteine level in VCIND group was significantly higher than non cognitive impairment group [(23.38 ± 3.31)μmol/l vs (17.21± 2.10) μmol/l,P＜0.01].The total MoCA score in non cognitive impairment group was 27.46 ± 1.21,VCIND group was 22.21±2.09,the differences between the two groups were statistically significant (P＜0.05).The average score of visual space/executive ability,delayed memory,language and abstract ability in VCIND group was lower than non cognitive impairment group (P＜0.05,P＜0.01).1,3 and 6months follow-up of group VCIND,The rate of cognitive improvement was 8.3％,33.3％ and 61.7％ (P＜0.05).Conclusion cognitive impairment in elderly patients with TIA and minor stroke is mainly manifested in the visual space/executive ability,delayed recall,language fluency/repetition and abstraction,the cognitive impairment of patients will improve over time.
ABSTRACT
@#Objective To investigate the potential of the Clock Drawing Test (CTD) in differentiating the mild cognitive impairment (MCI) and Alzheimer's disease (AD). Methods Cognitive impaired patients admitted to the outpatient and inpatient of neurological department of our hospital from October 2011 to October 2013 were reviewed. There were 65 cases with MCI and 63 cases with AD. The scores of CDT were compared between them, and the sensitivity and specificity were evaluated with Receiver Operating Characteristic Curve. Results The MCI group and AD group matched in age, gender and education. The scores of Chinese version of the Mini-Mental State Examination and CDT were significantly defferent between the two groups. The sensitivity of 3-point CDT was 54.0% and the specificity was 80.9% in differentiating MCI and AD. Conclusion CDT is helpful to differentiate MCI from AD only in a set of assessment.
ABSTRACT
Objective To investigate the potential of the Clock Drawing Test (CTD) in differentiating the mild cognitive impairment (MCI) and Alzheimer's disease (AD). Methods Cognitive impaired patients admitted to the outpatient and inpatient of neurological depart-ment of our hospital from October 2011 to October 2013 were reviewed. There were 65 cases with MCI and 63 cases with AD. The scores of CDT were compared between them, and the sensitivity and specificity were evaluated with Receiver Operating Characteristic Curve. Re-sults The MCI group and AD group matched in age, gender and education. The scores of Chinese version of the Mini-Mental State Examina-tion and CDT were significantly defferent between the two groups. The sensitivity of 3-point CDT was 54.0%and the specificity was 80.9%in differentiating MCI and AD. Conclusion CDT is helpful to differentiate MCI from AD only in a set of assessment.
ABSTRACT
ObjectiveTo study the role and mechanism of low-dose aspirin with IFN-α in inhibiting growth and metastasis of hepatocellular carcinoma (HCC).MethodsMHCC97L cells were cultured and a metastatic model of human HCC was established by orthotopic implantation of histologically intact human HCC tissue into the liver of nude (nu/nu) mice.After administration of different doses of Aspirin and IFN-α for 40 days,the mice bearing xenografts in liver were killed,and the tumor volume and lung metastasis were evaluated.Cell proliferation and MMP-2 activity were measured by MTT and gelatin zymography,respectively.The expressions of VEGF and MMP-2 were measured by western blot and ELISA.ResultsCompared to the control group,there were no significant differences in the high-dose Aspirin [45 mg/(kg · d)] treated group regarding tumor volume [(1.89 ±0.88) cm3 vs (3.12±0.85) cm3,P＞0.05] and incidence of lung metastases (58.3％ vs 66.7％,P＞0.05),but the tumor volume and incidence of lung metastasis were significantly inhibited in the highdose IFN-α group [1.5 × 107/(kg · d)],the high-dose IFN-α combined with high-dose Aspirin group,and the low-dose IFN-α [7.5 × 106 / (kg · d) ] combined with low-dose Aspirin [15 mg/(kg · d] group (P＜0.05).2 mmol/L Aspirin did not inhibit the proliferation of MHCC97 cells (P＞0.05),but inhibited the activities and expressions of MMP-2 and VEGF.Low-dose IFN-α combined with low-dose Aspirin significantly decreased the expressions of MMP-2 and VEGF in nude mice (P＜0.05).ConclusionLow-dose Aspirin combined with low-dose IFN-α significantly inhibited the growth and metastasis of HCC through suppressing the expressions of MMP-2 and VEGF.
ABSTRACT
Objective To investigate the role and mechanism of TMPRSS4 in radiation induced metastasis of hepatocellular carcinoma (HCC).Methods Metastatic model of human HCC was established by orthotopic implantation of histologically intact human HCC tissue into the liver of nude mice.Mice bearing xenografts in liver were killed after radiation and the residual tumors were resected and reimplanted into the liver of normal nude mice.At the end of sixth week,the mice were killed and the histopathological features,tumor volume,intrahepatic and lung metastasis were evaluated.Expression of epithelial-mesenchymal transition (EMT) related genes including N-cadherin,Vimentin,SIP1 and TMPRSS4 were measured by Western blotting and RT-PCR.Results The tumor volume and frequency of lung metastasis of control group was 2.25±0.52 cm3 and 66.7％,respectively.Compared to control group,tumor diameter (1.61±0.51 cm3,P＜0.05) and lung metastasis (12.5％,P＜0.05) were significantly inhibited 2 days after radiation.Whereas,30 days after radiation,tumor growth recovered (2.60±0.61 cm3,P＞0.05) and lung metastasis was enhanced (100％,P＜0.05).There were no intrahepatic metastasis in the control group and in the group of reimplantation of HCC 2 days after radiation,while the tumors from those 30 days after radiation showed enhanced intrahepatic metastasis (18 ± 8.05,P＜ 0.01 ),with overexpression of SIP1,N-cadherin,Vimentin and TMPRSS4,and reduced expression of E-cadherin.Conclusion The metastasis potential of residual HCC after radiation was first inhibited and then promoted.Overexpression of TMPRSS4 plays a critical role in radiation induced long-term metastasis of HCC by facilitating EMT.