Objective To assess the value of dual-energy computed tomography myelography (CTM) on detecting leaks of cerebrospinal fluid (CSF) in patients with spontaneous intracranial hypotension (SIH). Methods Six patients with SIH underwent spinal CTM on a 2nd generation dual-source CT with tube voltage set at 100 and 140 kVp(with tin filter). The virtual non-contrast (VNC) and iodine map images were calculated from dual-energy images. The average weighted (AW) CTM images were mixed from two kVp images with mix factor of 0. 5. Two radiologists evaluated CSF leak using two sets of images respectively: VNC + iodine map images and AW-CTM images. The results from two reading methods were compared. The level of CSF leaks along the nerve roots, C1-2 retrospinal CSF collections, epidural CSF collections and spinal epidural venous plexus were marked. The consensus about leak sites and CSF collections was made by two radiologists in the third session Kappa statistics were used to measure the agreement between the two methods. Results Forty-one leaks were detected using VNC + iodine map images. Forty-three leaks were detected on AW images. The agreement between two methods was excellent (Kappa =0. 997 ,P ＜0. 01). There were no differences in the detection of C1-2 retrospinal CSF collections (n = 2), epidural CSF collections(n = 3) or spinal epidural venous plexus (n = 1). VNC and iodine map images demonstrated superior visual effects than AW images. Conclusion Dual-energy CTM can be used to diagnose spontaneous spinal cerebrospinal fluid leaks in SIH patient.

Objective To study the imaging characteristics of intracranial dysembryoplastic neuroepithelial tumors(DNT),and to evaluate the role of CT and MRI in their diagnosis.Methods We presented 8 DNTs cases confirmed histopathologically after operation.CT and MRI features were retrospectively analyzed(3 cases received MR scan only and 5 had both studies),compared with the surgical findings and pathological appearance.Results Eight patients had totally 11 tumors with multifoci in 2 cases.Six DNTs were located in the temporal lobe,1 lesion involved the parietal lobe,1 in the frontal lobe,1 in the brain stem,1 in the cerebellum,and 1 in the frontal and temporal lobe simultaneously.All lesions were observed intracortically,and partial of them extended into the subcortical location.On 5 non-contrast CT scans,3 DNTs were homogeneously hypodense;1 case contained isodense nodules within the hypodense focus.Peripheral spotty calcification was found in 1 case.On pre-contrast MR images,all lesions showed hypointense on T_1-weighted images,moreover,multicystic change with more markedly decreased signal intensity was observed.The DNT had a well-demarcated,multinodular gyriform configuration,or a soap bubble appearance at the cortical margin.On T_2-weighted images,high signal intensity of the tumors was seen except for hypointense calcification.The bone remodeling of the adjacent calvaria was noticed in(1 case.) The tumors had slightly increased signal intensity on FLAIR(fluid attenuated inversion recovery) in 2 cases,and homogeneously mild hyperintense on PDW(proton density weighted imaging),while the isointense focus was observed in one case on DWI(diffusion weighted imaging).No obvious enhancement was identified except 1 lesion with mild enhancement following intravenous administration of contrast material.3 tumors had ill-defined contours,whereas the others showed well-demarcated margins.No surrounding vasogenic edema was present except 2 foci with slight edema.Conclusion DNT usually shows characteristic radiologic findings,in combination with the clinical presentation and history,the diagnostic accuracy should be improved,and,as such,unnecessary radiation and/or chemotherapy may be avoided.

Objective To study the molecular genetic polymorphism of exons 1,5, 6, 7 of HLA-C gene in Chinese population and evaluate the significance of additional sequencing based typing at exons 1,5, 6, 7 of HLA-Cw gene in clinical HLA matching, Methods A total of 324 individuals were typed at exons 2,3, 4 of HLA-C gene by sequence-based typing. If ambiguities appeared outside of exons 2 -4, we designed a total of 5 in-house sequencing primers and optimized the sequencing reaction, additional sequencing based typing at exons 1,5, 6, 7 was performed to solove the emerging ambiguities. Results In the three hundred and twenty-four samples typed by PCR-SBT at exons 2, 3 and 4 of HLA-Cw gene, 23.8 % (77/324) of the typed samples were assigned the conclusive genotype in four digital level 76. 2% (247/324) of the typed samples were given with the ambiguous allele combination results, in which 73 kinds of ambiguous allele combinations were detected. Increasing the additional sequencing analysis at exons 1, 5, 6, 7 of HIA-C gene, ten frequent ambiguities including Cw* 030201/030202, Cw* 070201/0750, Cw* 040101/0409N/0430, Cw* 0403/0409N/0430, Cw* 080101/0822 could be distinguished. ConclusionsIncreasing the sequencing anlysis at exons 1, 5, 6 and 7 of HLA-Cw gene will help to make clear the ambiguous SBT results and also improve the accuracy of HLA-Cw typing. It shows important significance in clinical histoeompatibility matching.

Objective To analysis the genomic sequence of a novel human leukocyte antigen (HLA)-B*3818 allele.Methods Full length genomic sequence of an unknown HLA-B allele was cloned,followed by bi-directional sequencing and the specificity of the antigen coded by this novel allele was defined by microcytotoxicity assay.The frequency and haplotype of this novel allele was acquired by population census and parentage analysis.Results The full length genomic sequence of this novel HLA-B*3818 allele with accession number FJ561482 differs from HLA-B*380201 by two nucleotide changes in exon 4 and intron 5,respectively.One change is located at nt 660 in exon 4 where C→A alternation,which results in an amino acid substitution from Asp(GAC)to Glu(GAA)at codon 196.This alternation is a new single nucleotide polymorphism compared with all other HLA-B alleles.Another is located at genomic position 2133 in intron 5(A→C).Except for this substitution,the intron sequences of HLA-B*3818 allele are identical to those of other HLA-B*38 alleles including HLA-B*380101,B*380201 and B*3814.The serological specificity of HLA-B*3818 is B38 and the frequency of this new allele is less than 0.000 5 in Chinese Han population.The parentage analysis showed the haplotype of novel allele is A*030101-Cw*010201-B*3818-DRB1*1312-DOB1*060101.Conclusion The simultaneous mutations in exon and intron were found in the Hovel HLA-B*3818 allele,and so it can present more sequence information for studies and applications associated with HIA genes by analyzing the genomic sequences of novel HLA alleles.

Objective To evaluate the heterozygous ambiguity resolution primers (HARPs) method in resolving ambiguous genotyping results of human leukocyte antigen (HLA) genes in Chinese Hart population, and choose some appropriate HARPs primers. Methods HLA-A, HLA-B and HLA-DRB1 genes of 416 southern Chinese Han individuals were genotyped by sequence-based-typing(SBT) method and then the ambiguous genotyping samples were sequenced again by HARPs primers provided by American Atria company. Results The percentage of ambiguous genotyping samples resolved by HARPs for HLA-A, HLA-B and HLA-DRBI locus was 86.3% (132/153), 73.9% (130/176) and 38.1% (85/223) respectively. Among them, 48.5% (64/132)HLA-A, 80.0% (104/130)HLA-B and all HLA-DRB1(85/85)samples only need one primer, 47.7 % (63/132)HLA-A and 20.0% (26/130)HLA-B samples need two primers. Three to six different HARPs primers can resolve more than 90% ambiguities. Conclusion HARPs is a convenient method and could be a routine method to resolve ambiguities for HLA-A, HLA-B and HLA-DRB1 genes genotyped by SBT in Chinese Han population.

OBJECTIVETo study the genetic polymorphisms of human leukocyte antigen (HLA)- A, B, C, DRB1, DQA1, DQB1, DPA1and DPB1among ethnic Hans from southern China.

METHODS481 randomly selected individuals were genotyped using a polymerase chain reaction (PCR) sequence-based typing (SBT) method for the above genes. Their allele frequencies were determined by direct counting.

RESULTSIn total, 28 HLA-A, 57 HLA-B, 28 HLA-C, 40 HLA-DRB1, 18 HLA-DQA1, 17 HLA-DQB1, 6 HLA-DPA1and 21 HLA-DPB1alleles were identified. Among these, common alleles (with allelic frequencies > 0.05) included A*1101, A*2402, A*0207, A*3303, A*0201, B*40:01, B*46:01, B*58:01, B*13:01, B*15:02, C*01:02, C*07:02, C*03:04, C*03:02, C*08:01, C*03:03, C*04:01, DRB1*09:01, DRB1*15:01, DRB1*12:02, DRB1*08:03, DRB1*03:01, DRB1*04:05, DRB1*11:01, DQA1*01:02, DQA1*03:02, DQA1*03:03, DQA1*06:01, DQA1*01:03, DQA1*05:05, DQA1*01:04, DQA1*03:01, DQA1*05:01, DQB1*03:01, DQB1*03:03, DQB1*06:01, DQB1*05:02, DQB1*03:02, DQB1*02:01, DQB1*03:02, DQB1*06:02, DPA1*02:02, DPA1*01:03, DPA1*02:01, DPB1*05:01, DPB1*02:01, DPB1*13:01, DPB1*04:01and DPB1*02:02.For each of the locus, the overall frequencies of common alleles were 75.57%, 52.81%, 78.28%, 62.16%, 86.70%, 77.23%, 95.32% and 81.59%, respectively.

CONCLUSIONThe allelic frequencies of the 8 selected HLA loci among ethnic Hans from southern China may served as a reference for anthropology, legal medicine, transplantation and disease association studies.

Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Gene Frequency ; Genotype ; Genotyping Techniques ; methods ; HLA-A Antigens ; genetics ; HLA-B Antigens ; genetics ; HLA-C Antigens ; genetics ; HLA-DP Antigens ; genetics ; HLA-DQ alpha-Chains ; genetics ; HLA-DQ beta-Chains ; genetics ; HLA-DRB1 Chains ; genetics ; Histocompatibility Antigens Class I ; genetics ; Histocompatibility Antigens Class II ; genetics ; Humans ; Linkage Disequilibrium ; Polymerase Chain Reaction ; Polymorphism, Genetic