Pathological changes of arota in long-term pure hyperuricemia rat / 基础医学与临床

Objective To identify whether long-term hyperuricemia(HU)is able to induce arota pathological changes in rat.Methods 2%OA forage and 100 μmol/L uric acid plus OA lavage were used to copy a long-term hyperuricemia animal model,eNOS,ET-1,ICAM expression in arota was evaluated to find out the role of uric acid in cardiovascular diseases.Results The arotas of hyperuricemia rats had tiny damages whereas that of rats in con-trol group was totally normal; Hyperuricemia rat had less eNOS expression,more ET-1,ICAM expression in arota (P<0.05)and less NO,more ET-1,ICAM in serum.Conclusions Long-term hyperuricemia is able to induce im-pairment in endothelium in rat arota,but fails to cause atherosclerosis.

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin, as well as other systemic manifestations. Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India. The syndrome is caused by mutations in solute carrier family 29, member 3 (SLC29A3), the gene encoding equilibrative nucleoside transporter 3. The aim of this study was to identify pathogenic SLC29A3 mutations in a Chinese patient clinically diagnosed with H syndrome.</p><p><b>METHODS</b>Peripheral blood samples were collected from the patient and his parents. Genomic DNA was isolated by the standard method. All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction (PCR)-amplified and the PCR products were subjected to direct sequencing.</p><p><b>RESULTS</b>The patient, an 18-year-old man born to a nonconsanguineous Chinese couple, had more extensive cutaneous lesions, involving both buttocks and knee. In his genomic DNA, we identified a novel homozygous insertion-deletion, c. 1269_1270delinsA, in SLC29A3. Both of his parents were carriers of the mutation.</p><p><b>CONCLUSIONS</b>We have identified a pathogenic mutation in a Chinese patient with H syndrome.</p>

Prevalence of anti-endothelial cell antibodies in patients with pulmonary arterial hypertension associated with connective tissue diseases / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To investigate the prevalence of anti-endothelial cell antibodies (AECAs) in the sera of connective tissue diseases (CTD) patients with pulmonary arterial hypertension (PAH) and its correlation with clinical manifestations.</p><p><b>METHODS</b>AECAs in sera of 39 CTD patients with PAH, 22 CTD patients without PAH, and 10 healthy donors as controls were detected with Western blotting. The prevalence of different AECAs in different groups was compared and its correlation with clinical manifestations was also investigated.</p><p><b>RESULTS</b>The prevalence of AECAs was 82.1% in CTD patients with PAH, 72.7% in CTD patients without PAH, and 20.0% in healthy donors. Anti-22 kD AECA was only detected in CTD patients with PAH (15.4%). Anti-75 kD AECA was more frequently detected in CTD patients with PAH than in those without PAH (51.3% vs. 22.7%, P < 0.05). In CTD patients with PAH, anti-75 kD AECA was more frequently detected in those with Raynaud's phenomenon or with positive anti-RNP antibody.</p><p><b>CONCLUSION</b>AECAs could be frequently detected in CTD patients with or without PAH, while anti-22 kD and anti-75 kD AECA might be specific in CTD patients with PAH.</p>

Application of dual-energy computed tomography for detecting uric acid deposition in patients with gout / 中国医学科学院学报

<p><b>OBJECTIVE</b>To assess the value of dual energy computed tomography (DECT) for the detection of uric acid (UA) deposition in patients with gout.</p><p><b>METHODS</b>A total of 37 patients with tophaceous gout (including 8 crystal-proven cases) and 10 control patients (5 with unknown arthropathy, 3 with rheumatoid arthritis, and 2 with osteoarthritis) were included. DECT was performed for all peripheral joints (wrists, hands, elbows, knees, ankles and feet) . Color coding was used to display the localization of UA deposition. Images were reviewed independently by two trained radiologists.</p><p><b>RESULTS</b>With DECT, patients with gout were found to have UA deposits in hands and wrists 46% (17/37) , elbows 16% (6/37) , knees 27% (10/37) , ankles and feet 89% (33/37) . No UA deposit was observed in all 10 control patients (P=0.000) . Among the 37 patients with gout, the number of UA deposition sites detected by DECT (n=297) was 2.25 times of that detected by physical examinations (n=132) (P=0.000) .</p><p><b>CONCLUSIONS</b>DECT allows the visualization of UA deposition in gouty arthropathy. Even subclinical disease can be delineated with this technique. However, the accuracy of DECT requires further investigations.</p>

Glomerular disease associated with Takayasu arteritis: 6 cases analysis and review of the literature / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To evaluate the clinical features, renal histopathology and therapeutic response to glucocorticoid and immunosuppressive agents in patients with glomerular disease associated with Takayasu arteritis (TA).</p><p><b>METHODS</b>Patients with TA and renal biopsy-confirmed glomerular disease were investigated retrospectively. None of them had renal artery stenosis or occlusive changes.</p><p><b>RESULTS</b>Six patients with glomerulopathy, accounting for 3.75% of the 160 TA patients admitted to our hospital at the same period, were analyzed. All of them were females with a mean age of 35.5 +/- 10.0 years. Four cases presented with lower extremity edema. Laboratory tests showed that one was nephrotic syndrome, three were nephrotic range proteinuria, and two of them had mild renal dysfunction. The other two patients were asymptomatic microscopic hematuria and proteinuria. Renal pathology revealed mild immunoglobulin A nephropathy in two cases, mild mesangial proliferative glomerulonephritis (GN), membranoproliferative GN, minimal change disease, and fibrillary GN in one case respectively. Five cases received glucocorticoids and cyclophosphamide therapy. Proteinuria and microscopic hematuria disappeared in 2 to 4 weeks after the initiation of therapy in three cases. The patient with membranoproliferative GN also reached complete remission of proteinuria and recovered renal function 6 months after the treatment.</p><p><b>CONCLUSIONS</b>TA may induce glomerular disease as a part of its histological spectrum. Apart from ischemic glomerular disease, glomerular disease should be suspected when TA patients have microscopic hematuria or proteinuria, that may be therapeutically responsive to glucocorticoids and immunosuppressive agent in relative early phase.</p>