China ; Humans ; Hypoxia-Ischemia, Brain ; diagnosis ; therapy ; Infant, Newborn

Objective To study whether RHD gene exists multiple mRNA produced by alternative splicing. Method RhD mRNA was analyzed through reverse transcriptase PCR (RT-PCR) and cDNA sequencing in 4 individuals with different Rh phenotypes (CcDDEe、CCDDee、CcDDee and ccDdee). Results The individuals with different Rh phenotypes had identical and intricate RhD mRNA isolations, which included normal mRNA, and 4 other transcripts with deletions of exon 7, exon 9, exon 7 and 9, and exon 7 to 9. Those transcripts had the same sequences as normal RhD mRNA except exon(s) deletion, which showed RHD gene existed alternative splicing, and it happened in exons or introns 7-9 regions. Conclusion There are intricate and different cassette-exons RhD transcripts produced through alternatively spliced exons 7 to 9. And those RhD mRNA isolations might code proteins with different C-terminus.

Objective To establish a RHD genotyping method specific for the Chinese. Methods Six pairs of primers specific for most alleles found in the Chinese according to the records in NCBI GenBank, were designed, and a multi-tube sequence-specific primer PCR (PCR-SSP) method was established with a pair of internal control primer in each reaction. The method was evaluated with samples serologically determined and full length RHD sequenced from 89 Rh-negative, 28 D el, and 13 Rh-positive, weak D and partial D phenotype of Chinese Hans. Furthermore, 318 random samples from blood donors were genotyped and the results were compared with serological results of those samples. Results The PCR-SSP results were in concordance with serological results (100%) in all samples, and all RHD positive, D antigen negative alleles (or nonfunctional alleles) observed in the Chinese up to now could be detected or implicated, including D el phenotype especially D el allele existing in Rh-positive individuals (RHD/RHD1227A). This genotype was detected with a rate of 8/318, and allele frequency should be 0.012579 Conclusion Our method is rapid and easy, with high accuracy in the testing of the Chinese.

The whole length of exon 11 of BRCA1 was sequenced (total 3427 bp) in 59 patients and 10 healthy female blood donors. To allow a rapid determination of the different BRCA1 alleles, a sequence-specific primer PCR method (PCR-SSP) was established and was applied to 57 additional female donors. Finally, the full-length coding region of BRCA1 was analyzed through reversed-transcriptase PCR (RT-PCR) and cDNA sequencing (total 5554 bp) in one donor with wild-type allele and 2 patients with one or two mutated alleles. By genomic DNA sequencing, 5 homozygous polymorphisms were observed in 18 patients: 2201C>T, 2430T>C, 2731C>T, 3232A>G and 3667A>G All of them were previously observed in Caucasians, Malay and Chinese, but for the first time the mutations were found in one allele (GenBank AY304547). Twenty-six patients and 4 donors were heterozygous at these 5 nucleotide positions. The remaining 15 patients and 6 donors showed a sequence identical with the standard BRCA1 gene. Combined the PCR-SSP results and in a summary, 6 of 67 (9.0 %) healthy individuals were homozygous for the mutated allele, whereas 18 of 59 (30.5 %) breast cancer patients were homozygous. A Chi-square test showed a significant correlation between homozygous mutated BRCA1 allele and breast cancer. The cDNA sequencing showed that 2 additional mutations, 4427T>C in exon 13 and 4956A>G in exon 16, were found. A new BRCA1 allele, which is BRCAI-2201T/2430C/2731T/3232G/3667G/4427C/4956G (GenBank AY751490), was found in Chinese. And the homozygote of this mutated allele may implicate a disease-association in Chinese.

Background As a new tonometer,it is necessary to assess the clinical value of Icare rebound tonometer.Objective This study was to compare the intraocular pressure(IOP)values measured by Icare with that measured by GAT,and discuss the clinical value of leare rebound tonometer. Methods IOP measurement was performed on 152 eyes of 78 subjects with suspicious glaucoma,glaucoma,refractive error and normal examinnee by Icare and GAT respectively.The Icare IOP was measured firstly and then the GAT IOP was carried out with the 3-or 5-minute interval.The IOP values were compared between Ieare and GAT.This study was approved by Ethic Committee of Wuhan General Hospital of Chinese PLA.Written informed consent was obtained from each subject prior to this study. Results The mean IOP values of Icare and GAT were(19.16±5.03)mmHg and(18.41±4.52)mmHg respectively.The differences between Icare IOP and CAT IOP were less than or equal to 1 mmHg in 96 of 105 eyes(63.2%).The positive correlation was found between the Icare IOP and GAT IOP(r=0.940,P<0.01).The Ieare IOP was lower than that of GAT when IOPIcare<16 mmHg,however,the IOP of Icare were higher when IOPIcare≥6 mmHg;the IOP of Icare were higher than that of GAT in the total CCT range.The correlation coefficients of IOP of Icare or CAT with CCT were 0.341(P<0.01)and 0.333(P<0.01),respectively. Conclusion Compared with GAT,Icare is more feasible in clinic because it is practicable and reliable.

OBJECTIVETo dynamically observe the effect of Shenshuai Mixture (SM) on repair of kidney in acute renal failure (ARF) rats.

METHODSMale SD rats were divided into 4 groups randomly, the normal group, the SM group, the verapamil group and the model control group. Except those in the normal group were treated with normal saline without modeling, all remaining rats, after being made into ARF model by intra-muscular injection of glycerin, were treated with SM, verapamil and normal saline respectively via gastrogavage. Renal function, renal pathology, mRNA expression of epidermal growth factor (EGF) and protein expression of proliferating cell nuclear antigen (PCNA) were detected once every day from the 1st day to the 5th day. Results (1) BUN and Scr levels increased markedly 24 hrs after modeling, but the Scr level in the two treated groups was significantly lower than that in the model group (P < 0.05). Compared with that in the model group and the verapamil group, renal function was better in the SM group on the 3rd day (P < 0.01), and approach to normal level on the 5th day. (2) Renal pathological changes alleviated in every phase of ARF in the SM group than that in the model group, especially part of tubule regeneration could be seen on the 3rd day (metaphase), and renal structure was rehabilitated on the 5th day (convalescence), prior to those in the model group. (3) At the 3rd day expression of EGF mRNA and PCNA in tubule epithelial cell (TEC) increased remarkably in the SM group, higher than those in the model and verapamil group (P < 0.05).

CONCLUSIONSM could promote renal tissue regeneration and rehabilitation, and shorten the course of ARF through up-regulating mRNA expression of EGF in TEC.

Acute Kidney Injury ; drug therapy ; physiopathology ; Animals ; Drugs, Chinese Herbal ; therapeutic use ; Epidermal Growth Factor ; biosynthesis ; genetics ; Kidney ; physiopathology ; Male ; Phytotherapy ; Proliferating Cell Nuclear Antigen ; biosynthesis ; genetics ; RNA, Messenger ; biosynthesis ; genetics ; Random Allocation ; Rats ; Rats, Sprague-Dawley

Objective To explore the diagnosis and treatment efficacy of bronchobiliary fistula due to hepatic cystic echinococcosis.Methods A retrospective evaluation of 39 patients with BBF was performed during 1992 to 2012.We divided the 39 patients into group A treated before 2001 and group B after 2002.A retrospective analysis was made.Results There were three deaths among the 39 BBF patients due to hepatic hydatid disease.The cause of death was septic shock due to severe infection.There were no statistical differences in the basic factors,age (t =0.84,P =0.554),gender (P =1.0),and sputum volume (t =0.98,P =0.703),hydatid diameter (t =1.11,P =0.406),operation time,chest infection (P =1.0),mortality (P =0.235) between the two groups (P ＞ 0.05).While postoperative length of stay(t =7.64,P =0.000),postoperative complications of residual cavity (P =0.001),length of tube drainage(t =6.747,P =0.01),recurrence of bronchial fistula (P =0.022),pleural dissemination (P =0.018),reoperation rate (P =0.049) were all in favour of group B (P ＜ 0.05).Conclusions Surgery is the choice of therapy for BBF due to hepatic hydatid disease,and one-stage procedure is expected to achieve the best outcomes.

Objective To investigate the accuracy of three-dimensional reconstruction coronary angiography with CardiOp-B system in the evaluation of coronary artery stenosis, and make comparison with conventional quantitative coronary angiography(QCA). Methods The imaging data of 33 patients (39 vessel segments) who underwent coronary angiography and received interventional therapy were collected. The vessel diameter, vessel area, diameter of reference vessel rate of stenosed area and lesion length detected by three-dimensional reconstruction coronary angiography and QCA were compared. Results There was no significant difference in the detected minimal vessel diameter, minimal vessel area, diameter of reference vessel, rate of stenosed area and lesion length between three-dimensional reconstruction coronary angiography and QCA in these 39 vessel segments (P > 0.05), while the lesion length detected by three-dimensional reconstruction coronary angiography was significantly longer than that detected by QCA(P < 0.05). Conclusion Three-dimentional reconstruction of coronary angiography with CardiOp-B system demonstrates higher accuracy in the quantitative analysis of coronary artery stenosis compared with conventional QCA.

Objective To investigate the standardized treatment of 33 children with thalassemia and their family financial burden registered in Bao'an district, Shenzhen city, and to provide basic information for formulating health policy for the government. Methods In 2009, preliminary investigations on 39 registered families with thalassemia children were conducted by telephone, and a household survey was made to collect treatment and economic status by questionnaire on 33 children. Results Among 33 cases of thalassemia children, 21 cases(63.7%) were severe anemia, 5 cases( 15.1%) in need of care or special care, and 25 cases(75.8%) were difficult or unable to maintain standardized treatment. The average family monthly income and expenditure was (4060 ± 2002) and (4926 ± 2991) yuan, respectively. The average monthly treatment costs were (2665 ± 1872) yuan, and the average debt amounted to (64 600 ± 53 940) yuan. Fifteen families[60.0%(15/25)] would reduce the times of blood transfusions or iron transpirations when they encountered revenue deficiency. Conclusions The heavy economic burdens on families with children thalassemia result in inadequate or interrupted treatment on sick children and affect their survival and quality of life, which should be taken more attention and social care.

Adult ; Bone Neoplasms ; diagnosis ; surgery ; Humans ; Ilium ; Magnetic Resonance Imaging ; Male ; Osteoma, Osteoid ; diagnosis ; surgery ; Tomography, X-Ray Computed