As the third generation of DNA genetic marker,single nucleotide polymorphisms (SNPs)widely exists in human genome and has been the main study methods in human genetics,preclinical medicine,clinical medicine,pharmacogenomics and so on.In this review,we focus on classification and features of SNPs,introduce the commonly used detection techniques and the application of SNPs in medical research.Questions and development prospect relating to SNPs are discussed as well.

The key constructional components for a bioartificial liver(BAL) include the source of hepatocyte cell line, the semi-permeable membrane or bioreactor and the delivery system. The most important part of a BAL is cell line. The properties of the hepatocyte cell line will directly affect the support efficacy of a BAL. This article reviewed the recent progress in researches on hepatocyte cell line used in BAL.

Animals ; Blood Platelets ; Cell Proliferation ; drug effects ; Dental Implants ; Fibrin ; chemistry ; history ; pharmacology ; therapeutic use ; Gingival Recession ; therapy ; History, 20th Century ; Humans ; Mesenchymal Stromal Cells ; cytology ; drug effects ; Osteoblasts ; cytology ; drug effects ; Sinus Floor Augmentation ; methods

OBJECTIVETo investigate the clinical value of pleural biopsy in the etiological diagnosis of pleurisy in children.

METHODTotally 213 cases with pleurisy, who underwent pleural biopsy and hospitalized in Children's Hospital of Chongqing Medical University from January 2007 to April 2014 were enrolled into this study. Clinical symptoms, imaging manifestations, pleural fluid characteristics, the results of pleural biopsy and postoperative complications were retrospectively analyzed to evaluate the clinical value and security of pleural biopsy in making the etiological diagnosis of pleurisy.

RESULT(1) Of the 213 cases, 144 were boys and 69 were girls, their mean age was (6. 5 ± 4. 1) years. (2) Two hundred and thirteen patients had a surgical pleural biopsy under general anesthesia, the cause of 97 cases (45. 5%) were made clear by histopathological examination, including 35 purulent pleurisy, 55 tuberculous pleurisy and 7 paragonimus infection. For the remaining 83 (41. 3%) cases a final diagnosis was made based on the full analysis of clinical data, including 63 cases of purulent pleurisy, 3 cases of tuberculous pleurisy and 17 cases of paragonimiasis pleurisy but for 33 patients no exact cause was found at the end. (3) The mean operating time of the biopsy was (1. 4 ± 0. 6) hours. Seventy one (33. 3%) patients required blood transfusion during or after the operation. Thirty one (14. 6%) cases used the ventilator after surgery, and the ventilator supporting time was (6. 6 ± 5. 8) hours on average. The wound healing reached grade A in 200 cases (93. 9%), grade B in 13 cases (14. 6%). Postoperative complications included pneumothorax in 92 cases (43. 2%), subcutaneous emphysema in 18 cases (8. 5%), bronchopleural fistula in 3 cases(1. 4%). The average days of hospitalization was (17. 7 ± 7. 1) d.

CONCLUSIONPleural biopsy is of great diagnostic value in the etiological diagnosis and differential diagnosis of pleurisy in children, and it is considered reasonable to be used in the clinical practice when appropriate.

Biopsy ; Child ; Diagnosis, Differential ; Female ; Humans ; Infection ; diagnosis ; Male ; Pleura ; Pleurisy ; diagnosis ; etiology ; Retrospective Studies ; Tuberculosis, Pleural ; complications ; diagnosis

It is confirmed that the adult cells can be re-programmed to embryonic stem cells(ESCs) by presenting some certain factors in oocytes in the clone process of animals. In recent years, some transcription factors that can induce pluripotent stem cells(iPS) have been identified and which made it possible to obtain induced pluripotent stem cells similar to embryonic stem cells. iPS provides a unique platform to study the pluripotent mechanism and to establish some specific disease models. This major scientific discovery can not only avoid the use of ES which involves ethics debate, but also lead the stem cell research to a new field.

Objective To study the characteristics of mutations of gene COL4A5 encoding type Ⅳ collagen ? 5 chain in one chinese pedigree with X-linked dominant inherited nephritis (Alport's syndrome,AS). Methods Genomic DNA was extracted from 35 members of the pedigree of Alport's syndrome. All of 51 exons of COL4A5 gene were amplified by PCR with the primers synthesized according to the published intron sequences of COL4A5. The PCR products were further analyzed by agarose gel electrophoresis and single strand conformation polymorphism (SSCP). The PCR products showing polymorphism were directly sequenced. Results PCR-SSCP analysis showed that 17 PCR products had abnormal mobility of single strand DNA. DNA sequencing analysis revealed 9 suspicious mutations. But these suspicious mutations were not be confirmed by inverse sequencing analysis. Conclusion The exon mutation of COL4A5 gene of this pedigree did not be found, and the mutations of COL4A5 gene may locate in the its introns.

Objective To investigate the course of the idiopathic macular hole (IMH) clinically diagnosed as at stage Ⅰ-Ⅳ by optical coherence tomography (OCT), and analyze the relationship between the posterior vitreous detachment (PVD) and the course of IMH. Methods Hadn′t undergone any operation, periodical OCT were performed on 72 eyes of 58 patients with IMH at stage Ⅰ-Ⅳ confirmed by Gass standard and the features of OCT images. Results The longest follow-up period was 43 months (average 13.4 months), and the examine times of OCT on each eye were between twice to 10 times (average 4.7 times). During the follow-up period, 23 eyes were in stage I in which 9 (39.1%) developed to stage II and 2 had recovered normal curve of fovea after PVD; 19 were in stage II in which 13 (68.4%) developed to Ⅲ-Ⅳ and 1 had closed hole after PVD; 11 were in stage III in which 5 (45.5%) developed to stage IV and 1 had partly closed hole 12 months later. The images of OCT showed that the process of macular hole was consistent with the course that vitreous depart from retina from the circumference of fovea till entire posterior detachment.Fifteen affected eyes in this series of patients had undcrygong surgical treatment due to serious progression of IMH in follow-up period. Conclusions There is a close relationship between the formation and development of macular hole and the occurrence of PVD. OCT can show the progress of the macular hole directly and offer an important technique in diagnosis, classification and surgical treatment of IMH.

Objective To investigate the technique of drain air, cryotherapy, and explant (DACE) of operation for superior bullous retinal detachment (SBRD). Methods In the DACE procedure, drainage and air or balanced salt soultion (BSS) injection were carried out first, with the intention of flattening the retina before localization of retinal hole, cryotherapy out of choroid and scleral buckling. Results In 42 SBRD eyes, 40 underwent the operation with DACE technique. In 23 eyes injected with BSS instead of air, 5 should be injected air due to no avail for flattening deeply retinal detachment, and 1 needed scleral buckling due to new retinal tear after DACE procedure two weeks. During the follow up, all retinae attached. Conclusions The DACE technique is very useful and effective in upper ballooned retinal detachment due to single hole or breaks localized in small area between the 10 and 2 o′clock meridiant. BSS instead of air injection can eliminate the difficulty of observation of retinal breaks from the presence of air in some cases.

Objective To investigate the relationship between the posterior vitreous detachment (PVD) and the diabetic macular edema (DME). Methods A total of 169 eyes with DME which were diagnosed by funduscopy,fundus fluorescein angiography (FFA) and optical coherence tomography (OCT) were retrospectively analysed. PVD and partial PVD were detected by OCT and biomicroscopy. The characterizations of OCT images of DME were analysed. Results In 169 eyes, 156 (92.3%) had no PVD with the average thickness of fovea of 297 ?m; 11 (6.5%) had complete PVD with the average thickness of fovea of 229 ?m; 2 (1.2%) had partial PVD with the average thickness of fovea of 347 ?m. Conclusions Only a few PVD were found in DME eyes, so traction of PVD may not be the main cause of DME.

Objective:To investigate the expression of CD69+ on lymphocyte and cytokine in active lymphocyte (CD69+) from patients with systemic lupus erythematosus( SUE) . So try to understand the lymphocyte activation, expression of cytokine in active lymphocyte and the pathogenesis of SLE.Methods: Expression of CD69+ on lymphocyte and intracellular cytokine(IL-2,TNF?) in active lymphoycte(CD69+) were investigated in 26 SLE and 15 healthy volunteers by using flow cytometric analysis and immunofluorescence staining method. Results:Expression of CD69+ on lymphocytes from active and inactive SLE patients were significantly higher than that of healthy controls( P