[An analysis of disease spectrum of patients admitted to the General Internal Medicine Unit at Peking Union Medical College Hospital from 2004 to 2008, and the value of general internal medicine unit in comprehensive hospitals].

OBJECTIVE: To analyze the disease spectrum of patients admitted to the General Internal Medicine Unit at Peking Union Medical College Hospital, which is the first academic division of general internal medicine in the department of medicine within Chinese medical colleges and universities, and the value of general internal medicine unit in comprehensive hospitals. METHODS: A retrospective data review of patients admitted to the General Internal Medicine Unit from 2004 to 2008 was conducted from hospital information system and partially by chart review manually. Analysis of disease spectrum was performed thereafter. RESULTS: A total of 2593 patients were included in our study. It consisted of 1075 men and 1518 women, with an average age of 45.1 years old. Forty point three percent of these patients were from Beijing, the local city, and the remaining 59.7% were from outside of Beijing. Sixty-four point nine percent (1683/2593) of these patients did not have a clear diagnosis on admission, including 758 fever of unknown origin (FUO) cases and 925 non-FUO cases. The final diagnostic rate of the FUO cases was 89.2% [676/758, with the first three leading causes as diseases of the musculoskeletal system and connective tissue (29.8%), certain infectious and parasitic diseases (26.3%), and neoplasm (14.5%)]. The final diagnostic rate of the 928 non-FUO cases was 86.8% (803/925), with the first three leading causes as musculoskeletal system and connective tissue (24.9%), neoplasm (15.5%), and diseases of blood and blood-forming organs (11.4%). Despite most diagnoses fitting into the above categories, the array of diseases was broad with as many as 550 discharge diagnoses from 2004 to 2008. CONCLUSIONS: During 2004 - 2008, there was a high proportion of cases that presented to the General Internal Medicine Unit at Peking Union Medical College Hospital with an unclear diagnosis, and the spectrum of diseases diagnosed was very broad. This kind of patient admitting model might not only benefit patients with no clear admission diagnosis and patients with multidisciplinary medical problems for whom it is usually difficult to be admitted by a specialty unit, but would also benefit medical students and residents by providing a good clinical medicine teaching base. These features show the value of general internal unit in comprehensive hospitals.

Prevalence of anti-endothelial cell antibodies in patients with pulmonary arterial hypertension associated with connective tissue diseases.

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

[Cardiac valve involvement in Behcet's disease: a clinical study of 10 patients].

OBJECTIVE: To assess the clinical features in patients with cardiac valve lesions associated with Behcet's disease (BD). METHODS: We retrospectively reviewed the clinical data of 10 BD patients with cardiac valve lesions who were admitted to Peking Union Medical College Hospital (PUMCH) during June 1999 to June 2009. RESULTS: Aortic regurgitation occurred in 6% of patients with BD in PUCMH. Patients included 8 male and 2 female with the mean age of 36.5. All the patients had occult onset cardiac symptoms with an average length of clinical course of 6 years. 5 patients fulfilled the ISG diagnostic criteria for BD and another 5 patients diagnosed by experts. The main echocardiography findings were severe aortic regurgitation, aneurysmal dilatations of ascendant aorta, echo-free space at the aortic root, aortic valve prolapse, mesh like mass incorporating aortic cusp, aortic valve perforation, et al. 3 patients underwent 7 operations. 5 simple aortic valve replacement (AVR) surgeries resulted in severe perivalvular leakage. 2 patients underwent Bentall and heart transplant surgeries respectively with perioperative immunosuppressive therapy had no complications. CONCLUSION: Cardiac valve involvement in BD is a rare but critical problem that requires a timely diagnosis and management. The current diagnostic criteria may have possibilities of delayed diagnosis of such problem. Echocardiography seems to be helpful for the timely diagnosis. The immunosuppressive therapy and Bentall type operations may be essential for improving the treatment outcome of BD with cardiac valve lesions.

[Application of dual-energy computed tomography for detecting uric acid deposition in patients with gout].

OBJECTIVE: To assess the value of dual energy computed tomography (DECT) for the detection of uric acid (UA) deposition in patients with gout. METHODS: 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. RESULTS: 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) . CONCLUSIONS: 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.

Glomerular disease associated with Takayasu arteritis: 6 cases analysis and review of the literature.

OBJECTIVE: 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). METHODS: Patients with TA and renal biopsy-confirmed glomerular disease were investigated retrospectively. None of them had renal artery stenosis or occlusive changes. RESULTS: 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. CONCLUSIONS: 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.

[Diffuse alveolar hemorrhage in systemic lupus erythematosus].

OBJECTIVE: To determine the clinical features of systemic lupus erythematosus (SLE) patients with diffuse alveolar hemorrhage (DAH). METHODS: The medical records of seventeen SLE patients with DAH were reviewed. RESULTS: Hypoxemia (100%), dyspnea (88%), cough (88%) and fever (82%) were the most common symptoms instead of hemoptysis (71%). The most common extrapulmonary presentation was renal involvement (94%). About 60% patients were complicated with lung infection. The mean drop in hemoglobin was (32 +/- 11.3) g/L. Mean SLEDAI was (17 +/- 10). All received high-dose steroids and most also were given cyclophosphamide. Ratio of mechanical ventilation in non-survivors was higher than that of survivors (P < 0.05). CONCLUSIONS: DAH is a rare and catastrophic event in SLE. DAH can occur in any course, which suggests active SLE, and frequently complicated with lupus nephritis. Some patients may have no hemoptysis.

[Ten cases analysis of small vessel vasculitis with myocardial involvement].

OBJECTIVE: This study was designed to investigate the clinical characteristics of systemic vasculitis with cardiac involvement. METHODS: Clinical information of 10 patients with systemic vasculitis complicated by myocardial vasculitis, selected from 181 small vessel vasculitis patients and 114 systemic vasculitis patients were analyzed. RESULTS: The clinical manifestations were varied significantly dependent on the etiology of small vessel vasculitis. It is usually difficult to make the diagnosis because of the insidious onset, varied etiology and the undifferentiated manifestations of heart involvement. Echocardiography is commonly used in detecting and monitoring cardiac involvement. Glucocorticoid therapy can improve left ventricular systolic function dramatically when used properly. CONCLUSIONS: The cardiac involvement of systemic vasculitis is quite rare. Dyspnea of various degrees and left ventricular systolic dysfunction are the most common clinical findings. The earlier the establishment of diagnosis and institution of appropriate treatment, the better the prognosis.

[Hematological abnormalities in systemic lupus erythematosus and clinical significance thereof: comparative analysis of 236 cases].

OBJECTIVE: To investigate the hematological abnormalities and their relationship to the disease activity of systemic lupus erythematosus (SLE). METHODS: The clinical data of 236 SLE patients, 29 males and 207 females with the age of confirmed diagnosis of 33.4, were divided into 3 groups: anemia group, with the hemoglobin (Hgb) < 100 g/L, including 2 subgroups, i.e. subgroup of anemia caused by chronic diseases (ACD) and subgroup of hemolytic anemia; low white blood cell group 1 (Group WBC1) with the WBC count < 4.0 x 10(9)/L, white blood cell group 2 (Group WBC2) with the WBC count 3.0 approximately 3.9 x 10(9)/L, immune thrombopenic purpura group (ITP group) with a platelet count < 100 x 10(9)/L, and control group without hematological changes. 72 patients underwent morphologic characterization of their bone marrow. The hematological data and the relationship thereof to the disease activity in different groups were analyzed. RESULTS: Among the 236 SLE patients 168 (71.18%) had hematological abnormalities and 68 of them (28.82%) without hematological abnormalities. 123 of the 168 patients with hematological abnormalities (52.1%) had anemia, 82 of which (66.7%) had characteristics of anemia caused by chronic diseases, 18 (14.6%) had hemolytic anemia, 8 (6.6%) had hematopoietic abnormalities, and the remaining 15 patients (12%) had anemia caused by unknown reasons. 73 of the 236 SLE patients (30.9%) had a WBC count < 4.0 x 10(9)/L and 57 patients (24.2%) had a platelet count < 100 x 10(9)/L. In the groups with hemolytic anemia, WBC count < 3.0 x 10(9)/L and thrombocytopenia, the complement levels were significant lower, and the levels of C-reactive protein (CRP) and positive anti-dsDNA antibody were significantly higher than those of the controls (all P < 0.05) The rate of positive antiphospholipid antibody of the hemolytic anemic patients and patients with thrombocytopenia were 22.2% and 15.8% respectively, both significantly higher than that of the controls (2.9%, both P < 0.05). 49 of the 72 patients undergoing morphologic characterization of bone marrow had normal cell morphology and a normal appearing bone marrow, 10 had varying degrees of pathologic hematopoietic changes, 2 lacked megakaryocytes, 9 expressed decreased proliferation in all three hematopoietic lineages, and 2 had only a decrease in erythropoiesis. CONCLUSION: The reason of the high proportion of anemia among the SLE patients in China may be the higher proportion of anemia caused by ACD in comparison with that abroad. Although SLE patients have lower rates of hemolytic anemia, HA is an important index of SLE disease activity. Thrombocytopenia and a WBC count < 3.0 x 10(9)/L are related to SLE disease activity. Abnormalities of hemopoiesis by bone marrow is one of the reasons of sever hematological changes in part of the SLE patients.

Hyperuricemia and clustering of cardiovascular risk factors in the Chinese adult population.

Hyperuricemia is common in China and the relevance of hyperuricemia and cardiovascular disease (CVD) risk has been highlighted, but to date there has been rarely nation-wide study in China. Here, we aim to estimate the current prevalence of hyperuricemia and evaluate the associations between hyperuricemia and cardiovascular risk factors (CRFs) clustering in a large sample of China adults including a plurality of ethnic minorities. Generally, a nationally representative sample of 22983 adults aged ≥18 years was recruited from 2007 to 2011. Questionnaire data and information on anthropometric characteristics, and laboratory measurements were collected. We define hyperuricemia as SUA ≥416 mmol/L for men and SUA ≥357 mmol/L for women. We found that the prevalence of hyperuricemia was 13.0% (18.5% in men and 8.0% in women). To our estimation, hyperuricemic subjects had higher prevalence rates of CRFs clustering than non-hyperuricemic subjects. Furthermore, there was a dose-response association between the number of CVD risk factors clustering and hyperuricemia. Our study revealed a high prevalence of hyperuricemia and CVD risk factors clustering among Chinese adults, and hyperuricemia was significantly associated with coexistence of more CVD risk factors. Therefore, guidance and effective lifestyle intervention are required to prevent hyperuricemia and CVD risk factors in China.

Correlation of thiopurine methyltransferase activity and 6-thioguanine nucleotide concentration in Han Chinese patients treated with azathioprine 25 to 100 mg: A 1-year, single-center, prospective study.

BACKGROUND: Of the enzymes involved in the metabolism of azathioprine, thiopurine methyltransferase (TPMT) is the one characterized by genetic polymorphisms and ethnic variations. There have been several studies of the ethnic variations in phenotype and genotype of TPMT, although few have assessed the possible correlation between TPMT activity and 6-thioguanine nucleotide (6-TGN) concentrations. OBJECTIVE: The aim of this study was to examine the relationship between TPMT activity and the steady-state concentration (Css) of 6-TGN, the primary active metabolite of azathioprine, in red blood cells (RBCs) in Han Chinese patients treated with azathioprine. METHODS: Han Chinese patients aged 18 to 60 years with immunosuppression and normal hepatic and renal function who had been receiving a stable dose (25-100 mg/d) of oral azathioprine as a part of their regular anti-immunosuppression regimen for at least 10 days were recruited for this 1-year, single-center, prospective study. Azathioprine was administered PO QD in the morning, in combination with a stable regimen of other immunosuppressive drugs, for 1 year. At 1 year, blood samples were drawn just before the ingestion of azathioprine. TPMT activity and 6-TGN Css in RBCs were determined in our laboratory using high-performance liquid chromatography. Adverse drug events were monitored by a patient questionnaire and laboratory testing. Out of the initial cohort, several patients were concurrently enrolled in a subanalysis in which the effect of TPMT polymorphism on the pharmacokinetic properties of 6-mercaptopurine, the intermediate metabolite of azathioprine, was examined. RESULTS: Nineteen patients (14 women, 5 men; mean [SD] age, 41 [9.6] years [range, 22-59 years]; mean [SD] weight, 62 [12] kg) were included in the study; 7 were included in the subanalysis. A significant negative correlation was found between TPMT activity and 6-TGN Css in RBCs (r = -0.712; P = 0.001); when the outlier data were removed, no significant correlation was found. Mean (SD) TPMT activity was 12.95 (3.07) nmol/h · mL(-1) RBCs and the interindividual CV was 23.68%. Mean (SD) 6-TGN CSS was 42.95 (41.98) ng/8 × 108 RBCs and the interindividual CV was 97.74% (N = 19), while the intraindividual CV of 6-TGNs within 8 hours after azathioprine ingestion was between 4.23% and 7.37% (n = 7). No significant correlation was found between 6-TGN Css in RBCs and the dose of azathioprine used. One patient's treatment was discontinued because her white blood cell count decreased to < 4 × 109 cells/L, indicating myelotoxicity; the t/12 of 6-TGNs in this patient was 5.85 days. Treatment was well tolerated by all other patients. CONCLUSION: In this small study, a significant negative correlation was found between TPMT activity and 6-TGN concentration in the RBCs of these Han Chinese patients. However, the correlation was not significant when data from 1 patient with low TPMT activity were excluded.

[A clinical analysis of 32 cases of POEMS syndrome].

OBJECTIVE: To compare the clinical features of POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes) syndrome patients from Peking Union Medical College Hospital (PUMCH) with those of patients in previous reports. METHODS: Thirty-two patients with POEMS syndrome were identified in PUMCH over the last two decades. The clinical features of these patients were compared with those in other large series from Japan, China, and the United States. RESULTS: The average age at presentation was 45.8 years; 22 were men. All 32 patients had polyneuropathy and decreased knee-jerk reflex. Organomegaly was present in 31 patients. Nine patients underwent lymph node biopsy and 5 of them were proven to have Castleman's disease. Twenty-six patients had at least one endocrine abnormality at time of presentation, not including more commonly prevalent diseases like diabetes mellitus or hypothyroidism. Seventy-two percent (18/25) of the patients had a detectable monoclonal protein with serum immunofixation, but only 16.7% (4/24) had positive results with serum protein electrophoresis. Skin changes were documented in 30 patients. In comparison with other series, we found a higher prevalence of organomegaly and papilloedema. The rates of M protein level, however, were similar. CONCLUSIONS: Most features of our series are similar to those from previous foreign series. The prevalence of M protein in our study was similar to that in previous foreign series, but was not as low as reported in previous Chinese studies. Immunofixation and immunohistochemical staining of bone marrow biopsies are probably more sensitive in detecting M protein as compared with serum protein electrophoresis.

[Decision-making about gout by physicians of China and influencing factors thereof].

OBJECTIVE: To investigate the decision-making about gout by physicians of China and influencing factors thereof. METHODS: A questionnaire survey, including 13 multiple choice questions, was divided into 2 stages. The first/stage questionnaire survey was conducted among 121 physicians of the departments of internal medicine and rheumatology respectively during the grand ward rounds, and the second-stage questionnaire survey was conducted among 75 physicians attending a national continuous medical education (CME) workshop of rheumatology. The data thus collected were pooled and analyzed by logistic regression models. RESULTS: 62 effective questionnaires were collected in the first/stage survey, and 38 effective questionnaires were collected in the second-stage survey, both with a missing rate < 10%. 78.3% of the respondents considered aspiration of the joint fluid as critical for the definitive diagnosis of gout, but only 2.4% of the respondents did so frequently. When treating acute gout in otherwise healthy patients, 69.2% of the respondents preferred oral colchicine, and while treating the patients with renal dysfunction, 41.7% of the respondents used corticosteroids or corticotrophin as the first choice. For long-term uric acid-lowering therapy, 99 of them (82.5%) described a variety of incorrect indications, 107 of them (89.2%) initiated the treatment too early (< or = 2 weeks after the remission), and 92 of them (76.7%) failed to sustain the treatment for at least 5 years. Only 17 physicians (14.2%) used prophylaxis while initiating the uric acid-lowering treatment and only 7 of them (5.8%) selected a prophylaxis time of 7 approximately 12 months. Multiple logistic regression analysis showed that only CMD on gout was associated with correct diagnosis strategy (OR 7.1, 95% CI 2.1 approximately 23.7). CONCLUSION: The management of gout by the physicians in China is often not consistent with that generally accepted internationally. High quality CME may improve the decision-making ability of physicians.

[A cross-sectional study of hyperuricemia in state-employees in Beijing: prevalence and risk factors].

OBJECTIVE: To investigate prevalence of hyperuricemia and its risk factors in Beijing. METHODS: A cross-sectional study was carried out in four groups of state-employees in Beijing, China. Demographic, dietary and clinical data were collected by questionnaires, physical examination, and biochemical assay. Data were analyzed by multivariate logistic regression models. RESULTS: 1217 men and 780 women participated in the study. HDL and LDL were excluded as they were not missing completely at random in missing variable analysis. The serum uric acid level was (331 +/- 74) micromol/L (mean +/- SD) for men and (254 +/- 61) micromol/L (mean +/- SD) for women. It was stable for both sexes before the age of 50, increased in women but tended to decrease in man thereafter. 13.8% of men and 6.0% of women had hyperuricemia, which was defined as serum uric acid >or= 416.4 micromol/L in men and >or= 356.9 micromol/L in women, or taking medication for it. The prevalence of hyperuricemia increased steadily as women aged and surpassed that of men after the age of 70, while it appeared to decrease after 60 in men. Multivariate logistic regression models found that male gender (OR 2.46, 95% CI 1.63 - 3.69), non-Han Chinese ethnicity (OR 2.47, 95% CI 1.02 - 5.98 for Chinese Muslim), renal dysfunction (OR 12.88, 95% CI 4.07 - 40.79 for GFR < 30 ml/min), and diuretics (OR 2.25, 95% CI 1.42 - 3.57) were associated with increased risk of hyperuricemia, whereas retirement (OR 0.21, 95% CI 0.12 - 0.38) was associated with substantially reduced risk of hyperuricemia, after adjusted for overweight/obesity, hypertension and hypertriglyceridemia. Age, menopause, low-dose aspirin were not found to be associated with hyperuricemia independently. Although retirement was associated with less consumption of meat, fat, alcohol (beer, hard liquor, and wine), and more physical exercises, neither of these factors were found to be associated with hyperuricemia independently. CONCLUSIONS: Male gender, non-Han Chinese ethnicity (Muslim), renal dysfunction, diuretics, overweight/obesity, hypertension and hypertriglyceridemia are associated with increased risk of hyperuricemia. Retirement is associated with reduced risk of hyperuricemia.

[Pleuropulmonary manifestations of systemic lupus erythematosus].

OBJECTIVE: To analyze the incidence, clinical features, and prognosis of pleuropulmonary involvement in patients with systemic lupus erythematosus (SLE). METHODS: The medical records of 320 SLE inpatients hospitalized in Peking Union Medical College Hospital 2004, 50 males and 270 females, aged 33 +/- 14 (8-75), were retrospectively analyzed. RESULTS: Pleuropulmonary involvement occurred in 142 cases with an incidence rate of 44.4%. The incidence of pleural involvement was 25% (80/320) and the incidence of pulmonary parenchyma involvement was 33.8% (108/320). The mortality rate of the SLE patients with thoracic involvement was 7.0%, significantly higher than that of the SLE patients without thoracic involvement (1.0%, P = 0.006). The incidence of acute lupus pneumonitis (ALP) was 1.3% and the survival rate of ALP was 100%. The clinical manifestations of ALP included hypoxemia, dyspnea, fever, and cough and chest radiograph characteristically showed unilateral or bilateral patchy acinar infiltrates predominantly in the lower lung zone. The incidence of diffuse alveolar hemorrhage (DAH) was 1.9% with a mortality rate of 66.7%. The clinical manifestations of DAH included hemoptysis, hypoxemia, cough, anemia and bloody bronchoalveolar lavage and the chest radiographic findings included new acinar infiltrates that were typically diffuse and bilateral and might be patchy. The other common pleuropulmonary complications of SLE included pleural disease (25%), chronic interstitial pneumonitis (6.9%), pulmonary hypertension (15.3%), pulmonary embolism (1.9%), and pulmonary infection (19.1%). CONCLUSION: SLE may affect all components of the respiratory system. Thoracic involvement is an adverse prognostic sign. Life-threatening pulmonary involvement is not uncommon. The clinicoradiographic features of the SLE-associated pulmonary syndromes overlap. Aggressive diagnostic evaluations such as blood culture, sputum culture, fibreoptic bronchoscopy, and lung biopsy are very important.

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: We have identified a pathogenic mutation in a Chinese patient with H syndrome.

[Human cartilage glycoprotein 39 mRNA expression in peripheral blood and synovium mononuclear cells in rheumatoid arthritis].

OBJECTIVE: To investigate the expression of human cartilage glycoprotein 39 (HC gp-39) in peripheral blood mononuclear cells (PBMC) and synovium of rheumatoid arthritis (RA) patients. METHODS: Levels of HC gp-39 mRNA were detected by reverse transcription-polymerase chain reaction in PBMC of 31 patients with RA, 6 with osteoarthritis (OA), 10 with spondylarthropathy (SpA), 5 with systemic lupus erythematosus (SLE), and of 10 healthy controls. Levels of HC gp-39 mRNA were also detected in synovium of 7 patients with RA and 5 with OA. The expression of HC gp-39 was semi-quatificated by HC gp-39/tubulin ratio. RESULTS: HC gp-39 mRNA expression in PBMC was increased in RA patients (the HC gp-39/tubulin ratio was 0.8690 +/- 0.5240), compared with OA (P = 0.024), SpA (P = 0.049), SLE (P = 0.043) and with healthy control subjects (P = 0.033). There were no statistically significant differences among OA, SpA, SLE and healthy controls. The level of HC gp-39 mRNA expression in RA synovium was also significantly higher than the level found in OA (P = 0.04). CONCLUSIONS: HC gp-39 mRNA was obviously overrepresented in RA patients PBMC and synovium. These data support a possible pathogenic role of HC gp-39, as a candidate autoantigen, in the autoimmune response of RA.

[Anti-endothelial cell antibodies in systemic vasculitis: detection and correlation with disease activity].

OBJECTIVE: To investigate the prevalence of anti-endothelial cell antibodies (AECA) in systemic vasculitis and to assess the correlation between AECA and disease activity, and try to discuss the classification of AECA. METHODS: Cyto-ELISA with EA.hy926 and HMEC-1, two immortalized cell lines, as substrates, was applied to detect AECA in 122 cases of systemic vasculitis, including 43 cases of Behcet disease, 19 cases of Takayasu arteritis, 19 cases of Wegener's granulomatosis, 11 cases of microscopic polyangiitis, 9 cases of polyarteritis nodosa, 3 cases of Churg-Strause syndrome, 2 cases of giant cell arteritis and other 16 cases of which could not be classified clearly. Patients with SLE, RA, and fever of unknown origin, and normal persons were used as control groups. Then the associations of AECA to laboratory findings and clinical disease activity (scored by BVAS) were analyzed. Furthermore, the AECA value from the two different substrate cells were analyzed for correlation and difference. RESULTS: With either EA.hy926 or HMEC-1 as substrates, the AECA prevalence rates of systemic vasculitis (respectively 33.61% and 37.70%) were significantly higher than those of the normal and RA groups (less than 10%), and the prevalence of AECA in SLE (61.75%) was higher than that of systemic vasculitis (37.70%) when using HMEC-1 as substrates. AECA was found to correlate very well with ESR in 122 cases of systemic vasculitis and with BVAS in 40 cases of small systemic vasuculitides, including Wegener's disease, microscopic polyangiitis, Churg-Strause syndrome and so on. The pair AECA values with EA.hy926 and HMEC-1 as substrate cells were found to be correlated significantly, and the matching rate was 92.62%. CONCLUSION: Prevalence of AECA in systemic vasculitis is high. AECA indicates the clinical disease activity. As to the assumption of classification of AECA into antibodies against microvascular and macrovascular endothelial cells, further study need to be done to prove or disprove it.