Objective To study the clinical characteristics of the hemorrhagic moyamoya disease in adults. Methods 25 adult patients with hemorrhagic moyamoya disease were retrospectively analyzed in terms of age, gen-der, symptom, sign, laboratory examination, imaging examination and therapeutic methods.Results Adults with hemorrhagic moyamoya disease were common among women, with a peak from 40 to 49 years old and a major manifes-tations of cerebral parenchymal hemorrhage combined with cerebroventricular hemorrhage.Cerebral parenchymal hem-orrhage was observed in 19 cases with cerebroventricular hemorrhage in 15 cases.Subarachnoid hemorrhage was ob-served in 6 cases.Simple cerebroventricular hemorrhage was observed in 4 cases.14 cases were treated with surgery, and 11 with expectant treatment.Conclusion Proactive surgical interventions and medicinal treatment can achieve a good therapeutic effect.

Objective To construct the functions for sex discrimination with Chinese humerus. Methods 12 variables of both left and right were selected from 103 individuals with known sex from 9 different provinces. The data were then obtained. The test was performed between males and females by using SPSS soft ware. After eliminate those variables which sex difference was not obvious. Sex discriminating functions were established by using Fisher mothod. Results There were 20 discriminating functions by the measuring single Chinese humerus, Sex correct rate was 75.9% ~89.3%. They were 2 discriminating functions of the proximal humerus epiphysis. The sex correct rate was 83.6% -85.7%. They were 2 discriminating functions of the middle humerus diaphysis. The sex correct rate was 81.3 % -83.9 %. They were 2 discriminating functions of the distal humerus epiphysis. The sex correct rate was 82%. The sex correct rate of the whole left humerus was 87% and of the whole right humerus was 90.9%. The sex correst rate of both left and right humerus was 96.3 % . Conclusion The sex discriminating functions were new method for forensic science practice in China.

Objective To evaluate the effect of early intracoronary injection of tirofiban via aspiration catheter on myocardial no-reflow in elderly patients with acute ST-segment elevation myocardial infarction (STEMI).Methods 120 consecutive patients over 65 years old with AMI undergoing primary percutaneous coronary intervention (PCI) were randomized into two groups.In tirofiban group (n=60),thrombus aspiration and intracoronary tirofiban bolus (10 μg/kg prior to the first balloon inflation) via aspiration catheter were performed.In control group (n=60),thrombus aspiration was followed by primary PCI.The incidence of no-reflow and bleeding were assessed in the two groups.Results The moderate to severe bleeding (TIMI bleeding criteria) did not occur in the two groups,there's no significant difference between two groups in the incidence of minor bleeding [26.7％(16 cases) vs.21.7％ (13 cases),x2 =0.19,P=0.522].The incidence of myocardial noreflow was significantly lower in tirofiban group than in the control group [10.0％ (6/60) vs.25.0％ (15/60),x2 =4.68,P=0.031].Conclusions The intracoronary injection of tirofiban via aspiration catheter may significantly reduce the incidence of myocardial no-reflow in patients with STEMI without increasing bleeding complications.

[Summary] The genotypes of rs6832151 in the 4p14 were genotyped by Taqman probe technique on FluidigmEPl platform in 617 patients with Graves′disease( GD) and 4 915 health control subjects. The result showed thatRs6832151 Gin4p14wasstronglyassociatedwithGD(OR=1.39,P<0.01),withstatisticalsignificancefor three genetic models according to the locus genotyping ( additive model,dominant model,and recessive model,all P<0.01). There was no statistically significant difference in the sizes of goiter between the genotype subgroups(P>0. 05). The result suggests that rs6832151 G in 4p14 is the susceptibility genes of Graves′ disease in Bengbu population, and is related to the high risk of GD.

Objective To target the disease gene of disseminated superficial form of porokeratosis (DSP) in a six-generation of a Chinese family including a total of 254 family members in Shandong province. Methods The clinical data and the peripheral blood samples were collected in the pedigree members. The genomic DNA was extracted from the blood samples. A genome-wide scan was performed using 382 pairs of primers labelled with fluorescent stain. The primers were designed for human autosomes. The sequencing results were analyzed by the software of Genescan and Genotype. Linkage analysis was processed by Linkage software package to define the region of disease gene. For fine targeting the disease gene, other 10 micro-satellite markers for the above region were set up for further fine sequencing. Results We obtained the maximum two-point LOD scores of 3.06 at micro-satellite marker D12S78 (recombination fraction ? = 0.00). After fine mapping, the DSP gene is located within a 38.5 cM region between markers D12S326 and D12S79. Conclusion The DSP gene is mapped to chromosome 12q21.2~24.2.

Objective To detect the gene mutation of thyroid hormone receptor β ( TRβ ) in a family with thyroid hormone resistance syndrome.Methods The genomic DNA was extracted from peripheral blood leukocytes of the patient and his 5 family members.The exons 1-10 ofTRβ gene were amplified by PCR.The products of PCR were sequenced directly to detect the gene mutation.Results Two members of this family were confirmed to have the C y A transition mutation at nucleotide 1642 site within exon 10 of TRβ gene,which was a missense mutation causing the substitution of Proline to Threonine (P453T).The mutation was Heterozygous.Conclusions It was confirmed that the patient has TRβ gene mutation P453T in exon 10.The mutation may lead to the occurrence of thyroid hormone resistance syndrome.

Objective To investigate the molecular defects of CYPl7A1 gene in a pedigree with two 46,XY patients suffering from 17α-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test.Methods Clinical data and hormone profiles were collected from the members of the pedigree.CYPl7A1 genotyping was performed in the patients and family members with PCR-direct sequencing.A short ACTH test was evaluated in some cases.Results The CYP17 genes of the patients were proved to hold a homozygous mutation with a base deletion and a base transversion (TAC/AA) in exon 6,which produced a missense mutation of Tyr→ Lvs at codon 329 and changed the open reading frame following this codon.The hormone response of the carriers after ACTH stimulation was abnormal between the patients and normal controls.Conclusion 17-OHD in this family was caused by CYP17A1 mutation (TAC329AA):some hormonal response to ACTH stimulation Was abnormal in carriers.

Objective To confirm the diagnosis and to localize the pathogenic gene of ectodermal dysplasia in a family SUffering from only hair and nail abnormalities.MethodsBlood samples were collected from 7 affected patients and 15 unafiected individuals in the family.Genomic DNA was extracted from blood samples by routine phenol-chloroform methods.The whole coding regions of candidate genes K16,K17,K6a,K6b and GJB6 were amplified by PCR followed by direct sequencing.Then,the gene mutation was further confirmed at mRNA level by RT-PCR.ResultsA heterozygous missense mutation 3 1G→A in the GJB6 gene.which leads to the substitution of glycine by arginine at codon 11(G11R)on the N-terminal of the protein,was detected in all the patients.but in none of the 15 normal individuals in this family.The mutation was also confirmed in the CDNA originating from the proband's skin biopsy.Conelusionn A missense mutation G31A.which has been shown previously to cause hidrotic ectodermal dysplasia(HED),is localized in the GJB6 gene of patients in this family.

Objective To search the single nucleotide polymorphism (SNP) in exons of osteoprotegerin gene, and to analyse the relationship between SNP and bone mineral densities (BMD) in postmenopausal women. Methods Using PCR and direct sequencing to identify SNP and genotypes in 205 postmenopausal women. BMD at lumbar spine (L 2 4 ) and femoral neck (FN) were measured by dual energy X ray absorptiometry. Serum osteocalcin (BGP), osteoprotegerin (OPG), osteoprotegerin ligand (RANKL) and urinary N telopeptides of type Ⅰ collagen (NTx) were also measured. Results One SNP, G1181C, was found in exon 1 of OPG gene. The frequencies of G1181C genotypes in 205 postmenopausal women were 0.566, 0.346, and 0.088 for the genotypes GG, GC and CC respectively. BMD at lumbar spine (L 2 4 ) of CC genotype was significantly higher than GC and GG genotypes (P

Objective To investigate the association between the six single nucleotide polymorphisms ( SNP),named as rs179247,rsl2101261,rs2284722,rs4903964,rs2300525,rsl7111394 in the intron 1 of thyroid stimulating hormone receptor gene (TSHR) and Graves' disease (GD).MethodsThe genotypes of the six SNPs were genotyped by Taqman probe technique on Fluidigm EP1 platform in 618 GD patients and 646 control subjects.Meanwhile,TSH receptor antibodies (TRAb) of the patients were determined.ResultsAmong the six SNPs,five S NPs were strongly associated with GD,with the most signals at rs179247_G,rs12101261_C,rs4903964 _G (P=2.85×10-10,OR=1.73,95％CI1.46-2.05;P=1.74×10-10,OR=1.73,95％CI 1.46-2.05;P=2.24×10-10,OR=1.69,95％ CI 1.44-1.99 ).The results of logistic regression analysis indicated that rs12101261 and rs4903964 were main susceptibility loci of GD in the intron 1 of TSHR.rs179247_G,rs1210126 1_C,and rs4903964_G were associated with subset of the GD patients with positive TRAb (P=4.24× 10-13,p=5.48× 10-13,P =3.89×10-12 ).Conclusionrs179247,rs12101261,and rs4903964 in TSHR intron 1 were significantly associated with GD in the Chinese Han population from Bengbu city.rs12101261 and rs4903964 were the major susceptibility SNPs associated with GD.TSHR gene may play a main role of susceptibility gene in the subset of GD patients with persistent positive TRAb.