Objective To investigate the disease causing gene of Stargardt disease. Method Fifteen patients with Stargardt disease were analyzed with 11 primers of the 11 exons of ABCR gene by using PCR SSCP and DNA direct sequencing techniques. Results Three newly detected disease causing mutations were found. Among those mutations, one is a frameshift mutation and others are single base transition. Conclusion This research confirmed that ABCR gene is associated with Stargardt disease, and 3 new mutations of ABCR gene were found.

To understand molecular modules related to polyunsaturated fatty acids (PUFA) synthesis and eventually produce PUFA at high efficiency, we developed a protein complex analysis technology in Synechocystis sp. PCC 6803, and applied it to identify possible partner proteins interacting with the key enzymes that catalyze PUFA biosynthesis. We first constructed a recombinant expression of protein of slr1609 encoding the fatty acid activation enzyme, by fusing 3xFLAG tag with the target protein. Then we verified its expression by Western blotting targeting 3xFLAG tag. To maximize purification of Slr1609 protein complex, we optimized the protein expression conditions of Slr1609 in Synechocystis in a 5 L fermenter by monitoring its gene expression using RT-qPCR. The purification of the Slr1609 protein complexes was demonstrated by a Native-PAGE analysis. Finally, LC-MS/MS proteomic analysis allowed identification of the possible partner proteins interacting with Slr1609.
Bacterial Proteins ; chemistry ; Chromatography, Liquid ; Fatty Acid Synthases ; chemistry ; Fatty Acids, Unsaturated ; biosynthesis ; Proteome ; chemistry ; Proteomics ; Synechocystis ; enzymology ; Tandem Mass Spectrometry

BACKGROUND: There has been increasing attention in the study of adolescent idiopathic scoliosis (ALS)and bone metabolism, which is accompanied by osteopenia and osteoporosis. Interleukin(IL) -6, a cytokine that strongly promotes bone resorption, participates in the regulation of bone metablism.OBJECTIVE: To explore the relationship between changes of bone mineral density(BMD) and serum IL-6 content in AIS.DESIGN: A controlled non-randomized concurrent study involving patients with AIS and and healthy volunteers.SETTING: The clinic and wards of the department of spinal surgery of a university-affiliated hospital.PARTICIPANTS: Thirty-six patients with AIS(6 males and 30 females aged 12 to 18 years) were treated in the Department of Spinal Surgery, Drum Tower Hospital, Medical College of Nanjing University from July to October 2003, who had a Cobb angle ranging from 34° - 109° and curvature of the thoracic spine. Thirty-six healthy adolescent volunteers(7 males and 29 females within the range of 13 - 18 years old) served as the control group.METHODS: The BMD was measured at L2- L4 and the proximal femur;(including the femoral neck, greater trochanter and Ward' s triangle) by dual-energy X-ray absorptiometry and serum IL-6 determined by enzyme-linked immunosorbent assay(ELISA).MAIN OUTCOME MEASURES: ① BMD of the lumbar spine and femur ② Comparison of serum IL-6 content of all the subjects.RESULTS: The BMD of AIS patients at L2- L4, femoral neck, greater trochanter and Ward' s triangle was 0.79±0. 12, 0.78±0. 12, 0.65± 0. 10, and 0. 69 ± 0. 13 g/cm2, respectively, all significantly lower than the corresponding measurements of the control group(1.09 ± 0. 11, 0.95 ± 0. 11,0. 78 ± 0. 10, and 0. 88 ± 0. 11 g/cm2, respectively, P ＜ 0. 001), whereas the serum IL-6 content in the patients was significantly higher than that in the control subjects ( P ＜ 0. 005). The changes of BMD at the lumbar spine and the three sites of femur were negatively correlated with serum IL-6 in AIS patients( P ＜ 0. 001 ), but not so in the control group( P ＞ 0.05).CONCLUSION: The BMD is decreased and serum IL-6 elevated in patients with AIS, and excessive secretion of IL-6 might be one of the important factors of osteopenia in AIS.

Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Carcinoma, Squamous Cell ; drug therapy ; radiotherapy ; Combined Modality Therapy ; Esophageal Diseases ; etiology ; Esophageal Neoplasms ; drug therapy ; radiotherapy ; Female ; Fluorouracil ; administration & dosage ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Particle Accelerators ; Platinum Compounds ; administration & dosage ; Radiation Injuries ; etiology ; Radiotherapy, High-Energy ; adverse effects

Objective To observe the effect of exhaustive exercise on the function of the kidney in rats and explore the mechanism. Methods Fourteen male Sprague-Dawley rats were divided into sedentary control group (group C) and exhaustive exercise group (group E). They were measured the urine protein, uric acid, glucose, and blood urea nitrogen after exercise. The reactive oxygen species, inducible ni-tric oxide synthase, nitro tyrosine in kidney, and nephrin protein in the kidney were detected with fluorescent probe and Western blotting, re-spectively, and observed under Harris staining. Results There were significant differences between groups C and E in urine protein, uric ac-id, glucose, blood urea nitrogen, reactive oxygen species, inducible nitric oxide synthase, nitrotyrosine and nephrin protein (P<0.05). The glomerular morphology and the deformation of capillary basement membrane were found under the fluorescence microscope in group E. Conclusion Exhaustive exercise may damage the structure of kidney in rats, which may associate with oxidative stress.

AlM:To evaluate the efficacy of retrobulbar injection of triamcinolone acetonide ( TA ) combined with 577nm laser macular grid photocoagulation for the treatment of cystoid macular edema.
METHODS: Fifty-eight cases ( 66 eyes ) with cystoid macular edema caused by different diseases were recruited in this study. The included patients were treated with both retrobulbar injection of triamcinolone acetonide and 577nm laser macular grid photocoagulation. The best corrected visual acuity, macular thickness, fundus and intraocular pressure were observed in the 1wk, 1 and 3mo after the treatment in all of the included cases.
RESULTS: After treatment, all of the 66 eyes showed cystoid macular edema partially or completely subsided according to optical coherence tomography and fluorescence fundus angiography; 54 eyes ( 82%) visual acuity improved, 12 vision remained the same.
CONCLUSlON: Retrobulbar injection of triamcinolone acetonide combined with 577nm laser macular grid photocoagulation has good curative effect, simple operation procedure and rare complications in the management of cystoid macular edema.

Objective: To investigate the protective effect of human lipoxin A4 (LXA4) on N2a cell damage induced by β-amyloid protein 25-35 (Aβ25-35) and the underlying mechanism. Methods: Aβ25-35 was used to treat N2a cells to establish Alzheimer's disease (AD) cell injury model. Meanwhile, LXA4 was added to the experimental group at different concentrations (50, 100 and 200 nmol·L-1 ). MTT assay was used to detect the activity of N2a cells. The apoptosis was detected by Hoechst 33258-PI staining, the expression of P62 and TRAF6 mRNA was detected by RT-PCR, and the expression of P62 and TRAF6 protein was detected by Western blot. Results: Compared with that of the model group, the cell survival rate of LXA4 protective group (50,100 and 200 nmol·L-1 ) increased (P <0. 01) and the apoptosis of N2a cells induced by Aβ25-35 was reduced by LXA4 (100 and 200 nmol·L-1 ) . Compared with that of the model group, the expression of P62-mRNA and protein-P62 of N2a cells treated with Aβ25-35 increased (P <0. 05 or P <0. 01) and the expression of TRAF6-mRNA and protein-TRAF6 of N2a cells treated with Aβ25-35 were reduced (P <0. 05 or P <0. 01). Conclusion: LXA4 has protective effect on N2a cell damage induced by Aβ25-35 , and its mechanism may be related to the up-regulation of P62 gene and down-regulation of TRAF6 gene.

Objective To evaluate the value of 18 F?NaF PET/CT and MRI in the diagnosis of skull?base bone invasion ( SBBI) in patients with nasopharyngeal carcinoma( NPC) . Methods Sixty?three NPC patients (45 males, 18 females;age range 23-72 years) were enrolled in this prospective study. Pa?tients underwent 18 F?NaF PET/CT and MRI to confirm whether the skull base was invaded. The reference standard was based on the follow?up imaging in 6 months. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of the two imaging modalities were calculated. χ2 test was used to analyze their difference. The SBBI foci and their distribution detected by the two imaging modalities were compared. Results Thirty?four NPC patients demonstrated SBBI in follow?up imaging. The diagnostic sen?sitivity, specificity, positive predictive value, negative predictive value, and accuracy of 18 F?NaF PET/CT were 97.1%(33/34), 89.7%(26/29), 91.7%(33/36), 96.3%(26/27) and 93.7%(59/63), respective?ly. For MRI, the parameters were 91.2%(31/34), 86.2%(25/29), 88.6%(31/35), 89.3%(25/28) and 88.9%(56/63), respectively. The diagnostic efficiency of the two imaging modalities had no significant difference (χ2=0.162-1.062, all P>0.05) . 18 F?NaF PET/CT detected 133 lesions and MRI detected 97 le? sions, and the clivus was the most common site of SBBI. Conclusions 18 F?NaF PET/CT and MRI have similar diagnostic efficiency in detecting SBBI. 18 F?NaF PET/CT can detect more lesions than MRI do, and has potential advantage for detecting tiny bone lesions in skull base.

Objective A rat model of chronic post-thoracotomy pain is used to study whether acute pain and pre-operative diffused noxious inhibitory controls(DNIC) can predict chronic pain and how DNIC changes when pain maintains.Methods Rats were randomly divided into three groups:naive group,sham group and model group.DNIC was constantly assessed in individual rats,along with each animal's mechanical hyperalgesia and cold allodynia after thoracotomy.Results In model group,the incidence of chronic post-thoracotomy pain was 55%(11 of 20),which was named CPTP group,and the other 9 rats without chronic pain was defined as non-CPTP group.The pre-operative DNIC was significantly weaker in CPTP group with lower mechanical threshold on 6 days after surgery and higher cold sensitivity on 6 days after surgery comparing with non-CPTP group.In the acute pain phase (day 3),DNIC was decreased in both CPTP group and non-CPTP group as compared with pre-operative period.Besides,DNIC was recovered in non-CPTP group while kept impaired in CPTP group on 21 days after surgery.Conclusions Pre-operatively assessed DNIC efficiency and acute post-operative pain intensity were two independent predictors for CPTP.DNIC was decreased both in acute pain and chronic state,while returned to normal when pain sense was normal.

Objective To evaluate the value of 64-slice spiral CT angiography based on pre- contrasted raw data in diagnosing pulmonary arteriovenous fistula.Methods 64-slice spiral CT plain scan and enhanced scan was performed in 16 patients with pulmonary arteriovenous fistula,pulmonary angiography based on pre-contrast and post-contrast raw data was performed respectively,including maximum intensity projection(MIP),shaded-surface display(SSD),and volume rendering(VR).According to the results of angiocardiography and surgical findings,comparson of the three methods was made in the display of PAVF in pre-contrast and post-contrast phase images.Results 8 of the 16 PAVF cases were single lesion,8 cases were multi-lesions.30 PAVF lesions were found in all the patients.MIP,SSD and VR based on pre-contrast raw data displayed PAVF lesions in 20,14,and 22,respectively.The combination of the 3 methods based on pre-contrast raw data could show 26 PAVF lesions.MIP,SSD,and VR based on post-contrast raw data displayed PAVF lesions in 24,18,and 30,respectively.The combination of the 3 methods based on post- contrast raw data could show 30 PAVF lesions.Conclusion 64-slice spiral CT angiography based on pre- contrasted raw data can clearly show the position,number,and shape of PAVF lesions,which is of great value in diagnosing PAVF.