Objective To investigate the genetic polymorphisms of 3 short tandem repeat (STR) loci D18S53, D18S59 and D18S488 on chromosome 18 in fetus of Tianjin Han population, and to provide basic data in the use of 3 STR lo-ci in the prenatal diagnosis of Edward syndrome (ES). Methods A total of 64 villus samples and 374 amniotic fluid sam-ples were collected from gravida in Tianjin Han population. QF-PCR and ABI PRISM 377 sequence were used in this study. The frequencies of the genotypes were tested with H-W equilibrium. Genetic analysis was performed to conclude some data of population genetics such as the frequency of the alleles, the heterozygosity of observation (Ho), the polymorphism informa-tion content (PIC), the probability of discrimination power (DP), and the probability of exclusion (PE). Results The 15, 13 and 15 alleles of D18S53, D18S59 and D18S488 were observed respectively. The frequencies of the genotypes were in good agreement with H-W equilibrium. The Ho of 3 STR loci were 0.797, 0.847 and 0.792. The PIC was 0.81, 0.75 and 0.73. The DP was 0.944, 0.901 and 0.881. The PE was 0.593, 0.689 and 0.585. Conclusion D18S53, D18S59 and D18S488 STR lo-ci were the favorable genetic markers of chromosome 18, which can be used in prenatal genetic diagnosis of ES.

Objective To discuss methods of decoration reconstruction for finger defect in emergency and to observe the elinical effects.Methods Of the 41 cases of finger injuries of different degrees,15 were repaired with part of the skin flaps of the big toenails or skin flaps of the second toenalis,8 were repaired with part of the skin flaps of the big toenails,7 were reeonstructed with the second tiptoes,11 were repaired with the abdominal skin flaps of the big toes or lateral flaps of the second toes.Results All the 41 fingers sur- vived.One skin flap of the big toe was somewhat swelling and a decorating operation was performed.The 4～18 months of follow-up visitation of the rest cases revealed good function and shapes.No obvious functional ab- norality was found in the donating feet.Conclusion Various kinds of decoration reeonstruetion for finger defects are available to recover the hand shape and function as much as possible.

Objectives To investigate the relationship between fluorosis polymorphisms in collagen type Ⅰ alpha 2 (COL1A2) and osteocalcin (OC) gene, and serum calciotropic hormone levels. Methods The children between 8 and 12 years of age in Kaifeng and Tongxu cities of Henan Province were chosen to be the object of observation. Accoding to situation of dental fluorosis, they were divided into three groups: dental fluorosis group, non-dental fluorosis group from high fluoride areas, and control group form the control areas. The Pvu Ⅱ and Rsa Ⅰ markers of COL1A2 gene as well as HindⅢ marker of OC gene were genotyped by PCR-RFLP procedure. Calcitonin and osteocalcin levels in serum were measured using radioimmunassays. Results The frequency distribution of COL1A2 PvuⅡ genotype was pp 49.3%(37/75), Pp 32.0%(24/75), PP 18.7%(14/75) in children with fluorosis; pp 43.5% (30/69), Pp 52.2% (36/69), PP 4.3%(3/69) in children without fluorosis from high fluoride areas; and pp 43.8% (42/96), Pp 40.6% (39/96), PP 15.6% (15/96) in the children without fluorosis from control areas respectively. Childrens with the homozygous genotype PP of COL1A2 Pvu Ⅱ had a significantly increased risk of dental fluorosis(OR=4.85, 95%CI: 1.22-19.32) compared to children with the homozygous genotype pp in anendemic fluorosis area. The frequency distribution of COLIA2 Rsa Ⅰ genotype was rr 50.7% (38/75), Rr 36.0% (27/75), RR 13.3%(10/75) in children with fluorosis; rr 46.4%(32/69), Rr 46.4%(32/69), RR 7.2%(5/69) in children without fluorosis from high fluoride areas, and rr 45.8% (44/96), Rr 45.8% (44/96), RR 8.3% (8/96) in the children without fluorosis from control areas respectively. There were no significant differences in the three groups (P>0.05). The frequency distribution of OC Hind Ⅲ genotype was hh 48.0% (36/75), Hh 34.7% (26/75), HH 17.3% (13/75) in children with fluorosis; hh 43.5% (30/69), Hh 43.5% (30/69), HH 13.0% (9/69) in children without fluorosis from high fluoride areas, and hh 47.9%(46/96), Hh 40.6%(39/96), HH 11.5%(11/96) in children without fluorosis from control areas respectively. There were no significant differences in the three groups (P>0.05). Additionally, fluoride levels in urine and OC levels inserum were found to be significantly lower in controls from non-endemic areas compared to cases(P<0.05). However, the differences in urine fluoride and serum OC levels were not observed when cases were compared to controls from high fluoride areas(P>0.05). Conehlsions This study provides the evidence of an association between polymorphisms in the COL1A2 gene with dental fluorosis in populations exposed to high fluoride. There were no correlation between OC Hind Ⅲ genotype and the dental fluorosis.

Objectives To explore the relationship between polymorphism in estrogen receptor alpha (ERα)gene Xba I and child dental fluorosis.Methods Qiulou township of Kaifeng and Sunying township of Tongxu counties of Henan province were chosen as the investigation spots in 2006.An area of water drinking endemic fluorosis(high fluoride area)and a non-endemic area(control area)were chosen in every spot,where dental fluorosis of children aged 8 to 12 years old were examined and diagnosed by using the Dean method.The children in the high fluoride areas were divided into dental fluorosis group and control group of the endemic areas according to dental fluorosis status,and the children in the control areas as control gruop of non-endemic areas.The Xba I polymorphism in the ERα gene was genotyped using the PCR-RFLP procedure.The fluoride levels in the urine samples from the three groups were detected by fluoride ion selective electrode and over standard rate of the urine was counted.Results The prevalence rate of dental fluorosis in high fluoride areas was 51.7%(74/143)and the community fluorosis index was 1.310.No dental fluorosis case was checked out in the control and the community fluorosis index was 0.021.The over standard rate of urine fluoride in dental fluorosis group[84.6%(121/143)]was significantly higher than that of control in non-endemic area[9.6%(9/94);χ2=125.95,P<0.01].The frequency distribution of ERα Xba I genotype was XX 6.8%(5/74),xx 36.5%(27/74),xx 56.8%(42/74)in dental fluorosis group;XX 15.9%(11/69),Xx 37.7%(26/69),xx 46.4%(32/69)in the eontrol of the endemic areas;XX 14.9%(14/94),Xx 43.6%(41/94),xx 41.5%(39/94)in children from the control in non-endemic area,respectively.No significant difference was found among the three groups(χ2= 3.450, P > 0.05). Allele frequency of ERα Xba I genotypes was X 22.7%(30/132), x 77.3%(102/132) in dental fluorosis group and X 35.5%(39/110),x 64.5% (71/110) in the control in endemic area when urine fluorosis of children was exceeding standard and significant difference was found in this two groups(χ2 = 4.768, P < 0.05; OR = 0.535,95% CI:0.305 - 0.941). Conclusion Children who carried X allele frequency of ERα Xba I genotypes have a lower risk of dental fluorosis when children with high-loaded fluoride status.

OBJECTIVETo explore the value of phase ordering with automatic window selection(PAWS)and simultaneous multiple volume(SMV)algorithm double respiratory navigator-gated two-dimensional(2DNAV)dual inversion recovery(DIR)fast spin echo(FSE)high-resolution black-blood coronary artery wall magnetic resonance imaging(MRI)and evaluate its advantages and limitations.

METHODSPAWS and SMV 2DNAV DIR FSE high-resolution black-blood MRI was performed in 21 healthy volunteers. The images were evaluated qualitatively by using four grades(grade 0can not evaluate;grade 1bad;grade 2good;grade 3perfect). Images defined as grade 0 and grade 1 were excluded and those defined as grade 2 and 3 were evaluated further. Thickness of proximal(or middle)segment of right coronary artery(RCA)and left anterior descending branch(LAD)were measured. The difference of wall thickness was analyzed by using two-tailed independent sample t-test. P values of less than 0.05 were considered statistically significant.

RESULTSAmong the 38 slice images,31 slices(RCA13 slices,LAD18 slices;grade 214 slices,grade 317 slices)were obtained for further evaluation. The mean thickness of RCA and LAD was(0.94±0.16)and(0.89±0.15)mm,respectively,and the difference was not significant(t=-0.790,P>0.05).

CONCLUSIONPAWS and SMV algorithm 2DNAV DIR FSE high-resolution black-blood MRI has certain clinical value for coronary artery wall imaging.

Adult ; Coronary Vessels ; anatomy & histology ; Female ; Humans ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Young Adult

OBJECTIVEIntends to create mathematical model and analysis of correlation between Chinese medicinal characteristics and immunoregulatory activity based on literature informatics.

METHODThe numbers of the Chinese medicines with immune effects were worked out within the framework of "The China Pharmacopeia" of 2005 edition, from the literature publicized since 1980. The correlation and mathematical model were figured out between Chinese medicinal characteristics including biological classification, different tastes, channel tropism as well as the parts used and immunoregulatory activity based on the statistical software SPSS.

RESULTThe results showed that the immunoregulatory activity was related to the five tastes of Chinese medicines, and the pungent medicines had less immune effect. The Chinese medicines of underground parts had more immune effect compared with other parts of the medicine. Medicines acting upon heart and kidneys were more powerful as for the immune effects (P <0.05). The coincidence was 74.7% between mathematical computing and original classification.

CONCLUSIONThere are correlations,between Chinese medicinal characteristics and immunoregulatory activity. The mathematical model based on these results can be used for immunopharmacology.

Adjuvants, Immunologic ; isolation & purification ; pharmacology ; Databases, Factual ; Drugs, Chinese Herbal ; isolation & purification ; pharmacology ; Humans ; Medicine, Chinese Traditional ; Models, Theoretical ; Plants, Medicinal ; chemistry ; classification

Objective To investigate the clinical application of detecting serum PPAR-γmRNA,MMP-9mRNA in the diagnosis of ruptured intracranial aneurysm.Methods The expression of serum PPAR-γmRNA,MMP-9mRNA were detected for 87 cases of patients with intracranial aneurysm,including ruptured group and non-ruptured group,respectively,with 57 cases and 30 cases of patients.The control group should be established to compare the changes of the above indicators.Results The expression of serum PPAR-γmRNA in the ruptured group,the non-ruptured and the controls group were 0.23±0.03,0.59±0.11 and 0.87±0.15,which of MMP-9mRNA were 0.93±0.17,0.63±0.13 and 0.25±0.05.Compared with those in the controls group,the expression of serum PPAR-γmRNA in the ruptured group significantly lowered (t=23.79,P＜0.01),which of MMP-9mRNA raised (t=25.63,P＜0.01).There were statistically significant differences.The expression of PPAR γmRNA in the ruptured group were lower than those in the unruptured group,which of MMP-9 mRNA were higher (t=15.32,16.27,P＜0.01).To establishing the receiver-operating characteristic curve (ROC curve) in evaluating the clinical significances of the two markers to use the rupture group and non-ruptured group as the dependent variable,the AUC of the expression of serum PPAR-ymRNA,MMP-9mRNA were 0.858 (95 ％ CI:0.775 ～ 0.940,P =0.000),0.842 (95 ％CI:0.756～0.929,P=0.000).As the dependent variable in the control group and unruptured group,the AUC of the expression of serum PPAR-γmRNA,MMP-9mRNA were 0.827 (95％CI:0.734～0.920,P=0.000);0.818 (95％CI:0.722 ～0.914,P=0.000).Conclusion Detection of serum PPAR-γ mRNA,MMP-9 mRNA can be applied in assessment of occurrence and progression for the intracranial aneurysm,and to provide evidences for the early detection of ruptured intracranial aneurysm.

Objective Clinical data of 19 Chinese patients with 21 hydroxylase deficiency (21OHD) were analyzed to improve the diagnosis and treatment level. Methods Clinical features and laboratory data were collected from 19 patients with 21OHD before and after treatment. Results In male patients, the average age of early appearance of secondary sexual character was (9.3?2.8)yrs, and excess androgen resulted in phallic enlargement. Primary amenorrhea was the most common complaint in female(87.5%), and the signs included a varying degree of labioscrotal fusion and clitoral enlargement. The average level of 17-hydroxy progesterone(17OHP) was (63.42?35.07) ?g/L, and adrenocorticotrophic hormone(ACTH), dehydroepiandrosterone(sodium) sulfate(DHEAS) and testosterone(T) were obviously elevated. CT scan showed bilateral adrenal hyperplasia. The level of 17OHP was significantly decreased after treatment[(63.42?35.07) ?g/L vs (3.15?2.71) ?g/L](P

Objective To investigate genetic polymorphisms of HPRTB, DXS6803 and DXS6809 STR loci in Tianjin Han female population, and to provide experimental data in the prenatal diagnosis of aneuploidies accurately and rapidly. Methods A total of 150 blood samples were collected in Tianjin Han population. QF-PCR and capillary electrophoresis were used in this study. The relevant data were analyzed by ABI Prism GeneMapper v3.0 software. Two homozygotes were se?lected from each locus for sequencing. The frequencies of the genotypes were checked using Chi-square test to verify Hardy-Weinberg Equilibrium. Data of genetic polymorphisms were calculated by PowerStatsV12 software. Results A total of 150 samples were successfully amplified in 24 hours. The 10, 6 and 10 alleles and 22, 12 and 29 genotypes were found respec?tively in HPRTB, DXS6803 and DXS6809 loci. The most common alleles were 14, 13 and 14. The higher frequencies of gen?otypes were 14-14, 12-13 and 13-14. No significant deviations from the Hardy-Weinberg equilibrium were observed in these three STR loci (χ2=10.554, 5.783 and 15.355, respectively, P>0.05). Values of He were 0.748, 0.649 and 0.806 for these three STR loci respectively. Values of Ho were 0.607, 0.700 and 0.713 respectively. Values of PIC were 0.706, 0.599 and 0.775 respectively. Values of PD were 0.894, 0.814 and 0.931 respectively. And values of PE were 0.299, 0.428 and 0.449 respectively. Conclusion HPRTB, DXS6803 and DXS6809 STR loci were highly polymorphic, which are favorable genetic markers on chromosome X and can be used in rapid prenatal genetic diagnosis.

Objective To analyze the clinical and genetic characteristics of 10 Chinese patients with 17? hydroxylase/17,20 lyase deficiency (17OHD). Methods Clinical features and laboratory data were collected from 7 kindreds with 17OHD. PCR products and subclone sequencing were performed to screen the mutation of CYP17A1 gene. Results All patients had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. The laboratory examinations indicated decreased plasma cortisol, 17-hydroxy progesterone, estradiol and testosterone, and elevated blood adrenocorticotrophic hormone(ACTH), follcie-stimulating hormone(FSH) and luteinizing hormone(LH). CT scan showed bilateral adrenal hyperplasia. 5 CYP17A1 mutations were identified, 4 of which are novel types D487_F489del, the most frequent mutation, was identified in 4 families and 45% alleles. Conclusion Our study indicates that 17OHD should be considered in the diagnosis of patients with sexual infantilism. D487_F489del is the most frequent mutation in Chinese 17OHD patients.