Objective To discover the mutations of rare thalassemia genes by sequencing of α and β-globin genes,to understand the frequency of rare mutations and to enrich thalassemia gene mutation spectrum in Chinese population.Methods For the cases of phenotype and genotype inconsistent,the 1st generation of sequencing was performed for α or β-globin gene coding region sequence analysis.Results A total of 102 patients with rare thalassemia gene mutations were found by sequencing,including 79 cases of β-thalassemia with 35 kinds of mutant types,and 23 cases of α-thalassemia with 11 kinds of mutant types.Conclusion The thalassemia gene sequencing could reveal rare mutations in genes,identify the genotype of patients,provide important support for prenatal diagnosis of rare thalassemia families,and reduce the missing rate and birth rate of children with thalassemia.

Objective:To establish the determination of paeoniflorin in Gubenyichang Tablet.Methods:RP-HPLC method was used for determination of paeoniflorin in Gubenyichang Tablet on C 18 column. The mobile phase was consisted of methanol-water (32∶68) and detection wavelength was at 230nm.Results:The average recovery was 98.9% and RSD was 1.22%. Conclusion:The method is simple, accurate and with good speciality.

Actins ; metabolism ; Bone Neoplasms ; metabolism ; pathology ; surgery ; Desmin ; metabolism ; Diagnosis, Differential ; Fibrosarcoma ; metabolism ; pathology ; Humans ; Leiomyosarcoma ; metabolism ; pathology ; surgery ; Male ; Middle Aged ; Neurilemmoma ; metabolism ; pathology ; Tibia ; Vimentin ; metabolism

Rhubarb is a traditional Chinese medicines which possess laxative, lipid-lowering, and weight-loss activities, but the active compounds of lipid-lowering and underlying molecular mechanisms are not yet clear. This study aims to explore the effects of chrysophanol on the mRNA expressions of sterol regulatory element-binding proteins (SREBPs) and lipid metabolism in human liver carcinoma Huh-7 cells, which is one of the active compounds obtained from Rhubarb. A reporter gene assay was used to test the transcription of SREBP. The intracellular triglyceride and total cholesterol contents were measured by using commercially available test kits. The SREBPs target genes expressions were measured by Quantitative Real-Time PCR. Cell viability was evaluated by Cell Counting Kit-8. As the results shown, chrysophanol (40 μmol · L(-1), 16 h) could notably inhibited human SRE promoter activity in a dose-dependent manner and decrease intracellular cholesterol and triglyceride levels. Furthermore, the mRNA expressions of SREBPs target genes were significantly downregulated by chrysophanol treatment. However there are no significant differences on cell viability when compared with the control group. These results suggested that chrysophanol might improve lipid metabolism through suppressing the mRNA expressions of SREBPs target genes to attenuate intracellular lipid accumulation.
Anthraquinones ; pharmacology ; CCAAT-Enhancer-Binding Proteins ; Cell Line, Tumor ; drug effects ; Cholesterol ; analysis ; Down-Regulation ; Gene Expression ; Genes, Reporter ; Humans ; Lipid Metabolism ; drug effects ; Promoter Regions, Genetic ; Sterol Regulatory Element Binding Proteins ; pharmacology ; Triglycerides ; analysis

It has been known that the renal microvasular lesions could aggravate the progress of glomerular sclerosis and tubulo-interstitial fibrosis in chronic kidney diseases. Modern pharmacological studies indicated that the two traditional Chinese herbs, Astragalus membranaceus and Angelica sinensis, could improve micorvascular lesions through multiple mechanisms, including increasing local renal blood flow to lessen the hypoxic renal injury, promoting the recovery of renal blood flow and glomerular filtration rate after ischemia-reperfusion, modulating the imbalance of vaso-activators such as nitric oxide and angiotensin, increasing the expression of vascular epithelial growth factor and inhibiting the release of the intracellular calcium ion and promoting DNA synthesis in endothelial cells to improve the function of endothelial cells. These evidences suggest that Astragalus membranaceus and Angelica sinensis may retard the progress of renal diseases through the above-mentioned mechanisms.
Angelica sinensis ; chemistry ; Animals ; Astragalus membranaceus ; chemistry ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Kidney ; blood supply ; drug effects ; Kidney Diseases ; drug therapy ; physiopathology ; Microvessels ; drug effects

Objective To summarize the geographical distribution,phenotype and genotype data of 206 thalassemia families underwent prenatal diagnosis to provide information for clinical genetic counseling and avoid the birth of severe thalassemia children.MethodsTotally,206 thalassemia families were collected from Southern Medical University Nanfang Hospital from January 2008 to December 2009.Genomic DNA was extracted from peripheral blood,villus,amniotic fluid or cord blood from the couples or the fetuses.Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) technology were used to detect the common α and β-thalassemia mutations.DNA sequencing was used to detect the rare mutations.Follow-up visit were done half a year after the fetuses were born. Results The 206 thalassemia families came from 12 provinces and areas across China,including Heilongjiang province.Mutations detected in α-thalassemia families included --SEA/,-α3.7/,-α4.2/,αCS α/ and αQS α/,which were all included in the testing kit. While there were 4 kinds of β-thalassemia mutations,Gγ+ (A γδβ)0,-28(A→C),CD54-58(-TATGGGCAACCCT) and CD37(G→A),could not be identified with routine testing kit. The 57 α-thalassemia families consisted of 11(19.3％) severe thalassemia,induding 8 Bart's hydrops syndrome and 3 Hb H disease,26(45.6％) heterozygote and 20(35.1％) normal infants,and the 149 β-thalassemia majors families consisted of 28 (18.8％) severe thalassemia,82(55.0％) heterozygote and 39 (26.2％) normal infants.Among the β-thalassemia heterozygotes,there was one 13-trisomy.Follow-up visit found that babies with Bart ' s hydrops syndrome (n =8),Hb H disease (n =3),β-thalassemia majors (n =28) and β thalassemia heterozygote combined with 13-trisomy(n=1) were aborted.Conclusions Thalassemia was found in some north area other than south of China,which should be paid more attention by clinicians.Gap-PCR and PCR-RDB technology are effective measures for thalassemia prenatal diagnosis in identifying major thalassemia fetuses before their birth,thus reduce the birth rate of thalassemia baby.But missed diagnosis might exist during the screening,so it is necessary to perform DNA sequencing on those patients with positive symptoms and negative common genetic diagnostic results.At the same time,prenatal diagnosis of chromosomal disorders should not be neglected for high-risk families.

ObjectivesTo explore the roles of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH) and hemoglobin A2 (HbA2) in the laboratory screening of thalassemia,and to find optimal screening modality for different conditions.Methods From September 2008 to May 2011,1384 subjects underwent thalassemia screening at Department of Obstertrics andGynecology of Nanfang Hospital.Of them,1036 cases were diagnosed with thalassemia (408 α-thalassemia,608 β-thalassemia,and 20 αβ compound thalassemia,thalassemia group) and 348 without thalassemia,non-thalassemia group.All subjects were screened respectively for MCV,MCH and HbA2.Analyses were performed in all subjects to assess the sensitivity,specificity,positive predictive value,negative predictive value and diagnostic accuracy respectively associated with MCV,MCH and HbA2 alone,combination of MCV and MCH,and combination of MCV,MCH and HbA2.Results( 1 ) In the thalassemia group,the sensitivity of MCV alone was 92.9％ (379/408) for α thalassemia,99.3％ (604/608) for β thalassemia and 100.0％(20/20) for αβ compound thalassemia.In the non-thalassemia group,the specificity of MCV alone was 75.0％ (261/348).(2) In the thalassemia group,the sensitivity of MCH alone was 92.9％ (379/408) in α thalassemia,99.0％ (602/608) in β thalassemia and 100.0％ (20/20) in αβ compound thalassemia.In the non-thalassemia group,the specificity of MCH alone was 72.7 ％ (253/348).(3) The sensitivity of Hb A2 alone was 67.4％ (275/408) for α thalassemia,97.5％ (593/608) for 3 thalassemia,and 100％ (20/20) for α3 compound thalassemia while it's specificity was 72.4％ (252/348) in the non-thalassemia group.(4)With positive indexes of MCV,MCH and MCV + MCH,when HbA2 ＞ 3.5％ it had a high value in [β-thalassemia screening,but when HbA2 ＜ 2.5％ it had little value in α-thalassemia screening.(5) As a single marker,MCV and MCH had better sensitivity,specificity,positive predictive value,negative predictive value and diagnosis accuracy than HbA2.MCV + MCH was the best for overall screening,but for [β thalassemia screening,MCV + MCH + HbA2 was the best.ConclusionsMCV and MCH are suitable for epidemic screening in a large population,physical examination and premarital check-up.Hb electrophoresis andthalassemiagenediagnosisarerecommendedforsubjectswithpositiveMCVandMCH indexes.Diagnoses of α and β-thalassemia gene are recommended for pregnant women with positive MCV and MCH indexes.

Objective To identify distinct subgroups of military personnel from Paracel Islands based on mental status for providing basis to intervention measures.Methods 174 enlisted military personnel were interviewed by symptom checklist-90 (SCL-90).The factor scores of SCL-90 were compared with army man norm and control group,then the cluster analysis was conducted.Results Interpersonal sensitivity,phobic and psychoticism of military personnel on Paracel Islands((1.65±0.56),(1.24±0.33),(1.44±0.46)) scored lower than those of army man norm (P＜0.05).Interpersonal sensitivity of military personnel on Paracel Islands scored lower than those of control (P＜0.05),depression and anxiety of them had no difference to control (P＞0.05),while other factors of them scored higher than control.According to cluster analysis,174 military personnel were divided into three subgroups.The first subgroup with high scores for all nine SCL-90-R dimensions,the second cluster showed moderate scores and the third cluster had lowest scores.Statistically significant sociodemographic differences could be found between the cluster groups (P＜0.05).Conclusion The mental health status of military personnel stationed in Paracel Islands is good on the whole,and can be divided into three clusters with different demographic and service characteristics.

Objective To study the potential of multi-slice spiral CT perfusion imaging in the assessment of cerebral neoplasms.Methods Multi-slice helical CT perfusion imaging was performed in 38 patients with cerebral tumors.The perfusion imaging of the tumor was carried out by cine scan technique (ls/1 rotation) with slice thickness 5 mm/4i,reconstructed slice thickness 10 mm/2i.Contrast injection was done by using 50 ml nonionic contrast agent(300 mg I/ml),at a flow rate of 3.5 ml/s with a power injector,and 5 seconds delay,and data acquisition lasted for 45 seconds.The scanning images were processed in ADW 4.0 workstation.BF、BV、PS values of tumors were calculated and statistically analysed. Results 38 patients with cerebral neoplasms included 9 cases of gradeⅠ—Ⅱgliomas(group 1),10 cases of gradeⅢ—Ⅳgliomas (group 2),9 eases of metastases (group 3)and 10 cases of meningiomas (group 4).All raw data was transformed to square root so as to be consistent with normal distribution.BF~(1/2) values for groupl to group 4 were (5.99?1.03)、(7.55?1.57)、(7.72?2.02 )、(11.40?2.13)ml?rain~(-1)?kg~(-1).The differences in BF~(1/2) were statistically significant between group 1 and group 2,between group 1 and group 3,between group 1 and group 4,between group 2 and group 4,between group 3 and group 4(t_(1,2)=6.89,t_(1,3)=4.59,t_(1,4)=11.03,t_(2.4)=10.58,t_(3,4)=7.65,P＜0.05),and there was no statistically significant difference between group 2 and group 3(t_(2.3)=1.17,P＞0.05);BF~(1/2) values for groupl to group 4 were (1.01?0.19)、(1.42?0.38)、(1.25?0.33)、(1.60?0.24)ml?kg~(-1).The differences in BF~(1/2) were statistically significant between every two groups (t_(1,2)=7.15,t_(1.3)=3.71, t_(1.4)=5.93,t_(2.3)=2.94,t_(2,4)=2.72,t_(3.4)=4.46,P＜0.05 );PS~(1/2) values for groupl to group 4 were (1.70?0.37)、(3.63?0.95)、(4.29?1.30)、(5.69?1.03)ml?min~(-1)?kg~(-2).The differences in PS~(1/2) were statistically significant between every two groups(t_(1.2)=11.53,t_(1.3)=10.61,t_(1.4)=16.77,t_(2.3)=3.69, t_(2,4)=9.94,t_(3,4)=5.52,P＜0.05).Conclusion Multi-slice helical CT perfusion imaging is very useful to evaluate tumor vessels of cerebral neoplasmas and it can provide information of incremental benefit in diagnosis,in staging of tumor grade,in the distinction of benign from maglignant cerebral neoplasmas and in differentiating intracerebral neoplasmas from extracerebral neoplasmas.

Objective To evaluate the predictability of MSCT perfusion in the restorability of renal function of hydronephrotie kidneys with unilateral partial ureteric obstructed rabbit model as to explore a method to predict the restorability of renal function of hydronephrotic kidneys and to investigate the changes of MSCT perfusion parameters during the course of the restore of renal function.Methods Establish a unilateral partial ureteric obstructed rabbits hydronephrotie model.Hydronephrotie rabbits were grouped as control,2,4 and 8 week(G_2w,G_4w and G_8w)after obstruction and the later 3 groups of rabbits were reared for further 4 weeks after the obstruction was released.MSCT perfusion scanning was performed and the specimen was made into histological slices with HE staining.Results BF and BV value of renal cortex and medulla of G_2w after obstruction [(864?32)ml?100 g~(-1)?min~(-1),(19.5?0.9)ml/100 g (cortex ); (182.1?7.5)ml?100g~(-1)?min~(-1),(8.37?0.51)ml/100g(medulla)]was released restored in substance and approached that of control[(899?63)ml?100g~(-1)?min~(-1),(21.6 + 1.4)ml/100 g (cortex);(193.5?16.5 )ml?100g~(-1)?min~(-1),(8.50?0.54 )ml/100 g (medulla)]while there was no significant restore in that of G_4w and G_8w after obstruction[(525?15)ml?100g~(-1)?min~(-1),(12.8? 0.6)ml/100g (G_4 w);(512?10)ml?100g~(-1)?min~(-1),(9.4?1.0)ml/100 g (G_8w)] was released. Histologically,there was a positive correlation between the duration of obstruction and the seriousness of pathologic changes.Conclusion MSCT perfusion can provide information not only morphologically but also about renal perfusion of hydronephrotic kidneys.