Background About one third of congenital cataract is associated with inheriting factor.The inherited heterogeneity has been found in congenital cataract.To seek the pathogenic gene is essential for the gene therapy. Objective Present study was to map and identify the causal gene for autosomal dominant congenital cataract (ADCC) in a Chinese family. Methods The clinical features of all affected members in this family were examined.Blood samples were collected from eleven family members for genetic linkage analysis.Polymorphic microsatellite markers were selected from the regions which harbor all known loci linked with ADCC.Universal fluorescent-labeled M13 primer was used in linkage analysis.Direct genomic sequencing was used to evaluate the candidate gene for example CRYBB2 gene.This study followed Helsinki Declaration and was proved by Tianjin City Ethic Committee.Written informed consent was obtained from each SUbject before any medical procees. Results The maximum two-point LOD score of 1.20 was obtained for marker D22S315 (θ=0).The LOD score of 0.6 was obtained for marker D16S3068.No mutation in all exons of CRYBB2 gene was found in the family. Conclusion CRYBB2 gene associated with ADCC was excluded from the family.A genome-wide linkage screening should be conducted.Genotyping with microsatellite markers using Universal fluorescent-labeled M13 primer can decrease the cost and obtain the same result.

MISA (MicroSAtelite) software was employed to screen SSRs in 68 787 contigs of Swertia mussotii transcriptome sequences. 5 610 SSRs were distributed in 5 099 contigs which accounted for 7.41% of 68 787 contigs. There are 220 kinds of SSR motifs existing in S. mussotii transcriptome. On average, SSRs occurred every 12.60 kb in length. In the SSRs, the tri-nucleotide repeat motif was the most abundant (45.99%), followed by the di-nucleotide (41.62%). AT/TA and AAT/TTA were the main types of motif in di-, tri-nucleotide repeats. The repeat numbers of SSRs which from S. mussotii transcriptome SSRs were mainly from 5 to 10 and motif length of them mostly ranged from 12 bp to 30 bp. A total of 30 651 contigs were annotated, and only 1 447 SSRs were occurred in protein-coding regions. In the six repeat motifs, tri-nucleotide repeats were the most abundant in coding regions (928). There are abundant SSRs in S. mussotii transcriptome with high frequency and various types, indicating their usefulness in theory. This research may lay the foundation for designing the targeted SSR primers and developing SSR molecular markers by mining the information of SSRs loci in S. mussotii transcriptome sequences data.
Data Mining ; Medicine, Tibetan Traditional ; Microsatellite Repeats ; Plants, Medicinal ; genetics ; Swertia ; genetics ; Transcriptome

OBJECTIVEThrough an analysis of the effect of PKP (percutaneous kyphosis plasty) for aged osteoporotic spinal multiple fracture to demonstrate the importance of the selection of responsible veterbal body.

METHODSTwenty-four consecutive procedures were performed in 19 aged patients with osteoporotic spinal compression fractures from May 2004 to October 2007. The 24 responsible veterbal bodies were confirmed by the manifestations of MRI, X-ray, physical examination before the procedures. Established work path through hibateral vertebral arch, put into saccule, poured in bone cement under X-ray perspective. To observe the condition about symptom improving, fractured reduction and complications after operation.

RESULTSThe operations were successfully completed and the pain released obviously at 2 days after operation. The patients can walk next day after operation and no complication found. The mean loss percent of the anterior and middle vertebal heights were respectively (34.22 +/- 11.51)% and (26.53 +/- 11.61)% before operation,postoperative were respectively (13.21 +/- 11.43)% and (15.10 +/- 6.50)%. The mean kyphosis corrected from (24.50 +/- 3.10) degrees to (8.70 +/- 4.30) degrees; the VAS scores decreased from 83.00 +/- 6.00 to 27.00 +/- 5.00. There was significant difference between before and after operation (P < 0.01).

CONCLUSIONSPKP for aged osteoporotic spinal multiple fractures by selecting true veterbal body has satisfactory clinical efficacy. We should emphasize the importance of the selectivity of responsible veterbal body in the procedures. It needs three essential elements: (1) Obviously spinous process tenderness and rap pain. (2) X-rays showed veterbal body compression fracture; MR showed low signal in veterbal body by T1WI, and high signal by T2WI, STIR. (3) The manifestation of radiology can be explained clearly by clinical symptomes arid signs.

Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Osteoporosis ; complications ; Recovery of Function ; Spinal Fractures ; complications ; diagnostic imaging ; physiopathology ; surgery ; Spine ; diagnostic imaging ; physiopathology ; surgery ; Tomography, X-Ray Computed ; Vertebroplasty ; methods

AIMTo investigate the chemical constituents of the bulbs of Fritillaria wabuensia.

METHODSChromatography techniques were used to isolate the chemical constituents. EI-MS, 1HNMR, 13 CNMR and DEPT were used to determine the structures of the isolated constituents.

RESULTSThree alkaloids were isolated from the bulbs of Fritillaria wabuensia, and were identified as imperialine (I), imperialine-beta-N-oxside (II), isoverticine-beta-N-oxide (III).

CONCLUSIONIsoverticine-beta-N-oxide was isolated from the bulbs of Fritillaria wabuensia for the first time. Isoverticine-beta-N-oxide is a new alkaloid.

Cevanes ; chemistry ; isolation & purification ; Cyclic N-Oxides ; chemistry ; isolation & purification ; Fritillaria ; chemistry ; Molecular Structure ; Plants, Medicinal ; chemistry ; Triterpenes ; chemistry ; isolation & purification

OBJECTIVETo investigate the expression and the role of secreted frizzled-related protein 2 (SFRP2) in the earlobe keloid and find a valid way to treat the keloid with gene therapy.

METHODSThe expression of SFRP2 mRNA and protein was tested with in situ hybridization and Western Blot Analysis method in the different period of earlobe keloid.

RESULTSThe SFRP2 mRNA and protein expression at the keloid edge was significantly high in 12 month group than in 3 or 6 month groups (P < 0.01), but not than in 24 month group. The SFRP2 expression started to decrease in the keloid center 12 month later (P < 0.01). The SFRP2 expression was always higher in edge than in center during all the period (P < 0.05, P < 0.01).

CONCLUSIONSThe results suggest that SFRP2 may play an important role in the development of keloid, especially at the keloid edge. The high SFRP2 expression in endothelial cells and surrounding tissue is also important. It may be a new way for gene therapy of keloid by decreasing the SFRP2 expression.

Adolescent ; Adult ; Ear ; Female ; Humans ; Keloid ; metabolism ; Male ; Membrane Proteins ; metabolism ; Middle Aged ; Young Adult

OBJECTIVETo investigate the chromosomal aberration in sporadic colorectal carcinoma and its association with clinicopathological features.

METHODSComparative genomic hybridization(CGH) was used to screen the changes in the number of DNA sequence copies in 40 sporadic colorectal cancer patients in order to identify regions that contain genes important for the development and progression of colorectal cancer.

RESULTSIn 40 sporadic colorectal cancer, frequent gain at 20 q, 12 q, 13 q, 7 p, 7 q and 16 q were found, while loss was also found at 18 q, 5 q, 4 q, 8 pand 17 p. The number of chromosomal aberration was closely associated with tumor stage(P<0.05). No significant association was found between the number of chromosomal aberration and tumor site, histopathologic type and histologic grade.

CONCLUSIONSChromosomal aberration exists generally in sporadic colorectal carcinoma. The number of chromosomal aberration and gain of 20q are closely associated with tumor stage.

Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosome Mapping ; Colorectal Neoplasms ; genetics ; pathology ; Comparative Genomic Hybridization ; DNA Probes ; Female ; Gene Dosage ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; Oligonucleotide Array Sequence Analysis

OBJECTIVETo analyse retrospectively 3-tunnels core decompression with implantation of bone marrow stromal cells(bMSCs) and decalcified bone matrix (DBM) for treatment of femoral head necrosis in early stages, and to study its therapeutic results and indications.

METHODSAccording to the University of Pennsyvania system of classification and staging,to treat the patients with 3-tunnels core decompression with implantation of bone marrow stromal cells (bMSCs) and decalcified bone matrix (DBM) for treatment of early femoral head necrosis. Among the total 87 patients (103 hips), the male was 71 (86 hips) and the female 16 (17 hips) with the average age of 47 years old. The average course of disease was 1.3 year. The effect was evaluated by the clinical symptoms, the Harris' scores and the manifestations of radiology before and after operation.

RESULTSAll the patients were followed up more than 2 years (average 26 months). The average Harris' scores increased from preoperation 47.3 to postoperation 74.0. The average rate of excellent and good results was 75.7%. The rate of excellent and good was 88% (22/25) in type I, 78.7% (37/47) in type II and 61.3% (19/31) in type III. No severe complications were observed.

CONCLUSIONThree-tunnels core decompression with implantation of bMSCs and DBM not only removal the focus of disease, but also use DBM the induction of bone and autologous hone marrow stem cells to differentiate the functions of the femoral head can be resumed loading structure, eliminate pain,improve joint function. It is an effective method for early femoral head necrosis.

Adult ; Aged ; Bone Marrow Transplantation ; Bone Matrix ; transplantation ; Decompression, Surgical ; Female ; Femur Head Necrosis ; surgery ; Follow-Up Studies ; Humans ; Male ; Mesenchymal Stem Cell Transplantation ; Middle Aged ; Retrospective Studies ; Transplantation, Autologous

OBJECTIVETo compare the efficacy of endoluminal ultrasonography (EUS) and spiral computed tomography (SCT) in preoperative staging of rectal carcinoma.

METHODSBoth EUS and SCT were performed prior to surgery in 68 patients with rectal carcinoma. After radical surgery, the preoperative findings were compared with histologic findings of the operative specimens, and the efficacy of EUS and SCT in staging the rectal carcinoma were evaluated.

RESULTSFor T stage, EUS accuracy was 86.8%, while SCT was 70.6%. The difference was significant (P<0.05). For N stage, EUS accuracy was 67.6% and SCT was 63.2%. The difference was not significant (P>0.05).

CONCLUSIONEUS is superior to SCT for the judgement of tumor infiltration depth, but neither is able to provide satisfactory assessment of lymph node metastases.

Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; methods ; Rectal Neoplasms ; diagnostic imaging ; pathology ; Tomography, Spiral Computed ; Ultrasonography, Interventional

Objective To study the influence of isoniazid on lymphocyte factor expression and macrophage function of rats.Methods Healthy male SD rats were randomly divided into three groups,which was treated for one month,three months and withdrawal for one month after treated for three months,and each group was randomly divided into isoniazid group and control group.The isoniazid groups were ig with isoniazid at dose of 120 mg/kg every other day and control groups were fed on normal saline.At the corresponding time points,the level of interleukin-12 (IL-12) and interferon-γ (IFN-γ) was detected with ELISA method,detected serum lysozyme content by agar plate method,and Comori method was used for the detection of acid phosphatase levels in peritoneal fluid.Results At all the time points,levels of IL-12,IFN-γ and lysozyme in isoniazid group were not significantly different compared with control group.There were statistically significant differences in acid phosphatase between isoniazid group and control group after treated for one month (P ＜ 0.05),but the significant differences disappeared at the next two time points.Conclusion Isoniazid of 120 mg/kg may have no obvious influence on the immune function of rat.We don't detect the immune injury.

OBJECTIVETo investigate the pathogenesis of ischemic-type biliary lesions (ITBLs) in post-liver transplant patients and the possible therapeutic mechanisms of sirolimus.

METHODSThe clinic data of 32 post-liver transplant patients with ITBLs from May 2004 to December 2010 was analyzed. There were including 25 male and 7 female patients with a median age of 46 years (ranging from 19 to 61 years). Patients were divided into those who received sirolimus (sirolimus group) and those who did not (control group). The expression of IL-2, FoxP3, and IL-10 in the portal area, liver function indexes, and bile duct injury score were assessed pre-ITBL, when ITBLs were identified, and after 6 months of sirolimus treatment.

RESULTSCompared with pre-ITBL optical density (OD) values, there was a significantly increase in IL-2 OD(0.138 ± 0.050 in control group and 0.141 ± 0.052 in sirolimus group), but not FoxP3 and IL-10 OD in both groups at the time ITBLs were diagnosed. After 6 months of treatment, the IL-2, FoxP3, and IL-10 OD values in the control group were not different from those when ITBLs were diagnosed. There was a significant reduction in post-therapy IL-2 OD(0.107 ± 0.043, t = 2.087, P = 0.044), and a significant elevation in FoxP3(0.213 ± 0.039) and IL-10 OD(0.187 ± 0.048) in sirolimus group as compared with those when ITBLs were diagnosed(t = -3.822 and -4.350, both P < 0.01). There was a significant increase in serum levels of ALT, AST, total bilirubin, γ-glutamyl transpeptidase and ALP at the time ITBLs were diagnosed compared with pre-ITBL levels in both groups. After 6 months of treatment, the above indexes had not changed in the control group, but significantly improved in the sirolimus group, and the bile duct injury score in the sirolimus group had significantly decreased(4.4 ± 2.4, Z = -2.568, P = 0.010). The 1-year and 3-year graft survival rates in the control group were 6/13 and 5/13, respectively, and 17/19 and 13/19, respectively, in the sirolimus group (χ(2) = 7.166, P = 0.007; χ(2) = 5.398, P = 0.020, respectively).

CONCLUSIONSSirolimus can downregulate IL-2 expression and upregulate FoxP3 and IL-10 expression, thereby stimulating FoxP3+ Treg cells, suppressing immunopathological damage, and promoting epithelial repair in bile ducts.

Adult ; Bile Duct Diseases ; drug therapy ; Female ; Forkhead Transcription Factors ; metabolism ; Gene Expression Regulation ; drug effects ; Humans ; Interleukin-10 ; metabolism ; Interleukin-2 ; metabolism ; Ischemia ; diet therapy ; Liver Transplantation ; Male ; Middle Aged ; Postoperative Complications ; drug therapy ; Sirolimus ; therapeutic use ; Young Adult