[Clinical characteristics of patients with rheumatic diseases and abnormal liver function].

Objective: To investigate the clinical characteristics of patients with rheumatic diseases and abnormal liver function, as well as determine the proportion and severity of liver function abnormalities. Methods: Cross-sectional study. Data were collected from patients registered in the Chinese Rheumatism Date Center from 2011 to 2021. The rheumatic diseases analyzed in this study were rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjogren syndrome (SS), ankylosing spondylitis (AS), and gout. Patient data, including demographic characteristics [ such as age, sex, body mass index,(BMI), and smoking history], liver function test results [including alanine aminotransferase (ALT), aspartate aminotransferase, alkaline phosphatase(ALP), and total bilirubin], and use of anti-rheumatic immune drugs and liver-protective drugs, were collected and compared between groups with normal and abnormal liver functions. In addition, the proportions of abnormal liver function were compared between sex and age groups. Results: A total of 116 308 patients were included in this study, including 49 659 with RA, 17 597 with SLE, 9 039 with SS, 11 321 with AS, and 28 692 with gout. The lowest proportion of liver function abnormalities was observed in patients with RA[11.02% (5 470/49 659)], followed by those with SS[17.97% (1 624/9 039)] and AS [18.22% (2 063/11 321) ], whereas patients with SLE [21.14% (3 720/17 597) ] and gout [28.73% (8 242/28 692)] exhibited the highest proportion of these abnormalities. Elevated ALT, mostly classified as grade 1, was the most commonly noted liver function abnormality, whereas elevated ALP was the least common. Some patients who took liver-protective drugs had normal liver function, with the lowest percentage observed in patients with gout [7.45% (36/483) ] and ranging from 21.7% to 30.34% in patients with RA, SLE, SS, and AS. The proportion of liver function abnormalities was higher in males than in females for all disease types [RA: 13.8%(1 368/9 906) vs. 10.3%(4 102/39 753); SLE: 33.6% (479/1 424) vs. 20.0% (3 241/16 173); SS: 25.4%(111/437) vs. 17.6%(1 513/8 602); AS: 20.1%(1 629/8 119) vs. 13.6% (434/3 202); and gout: 29.3% (8 033/27 394) vs. 16.1% (209/1 298)]. In RA, SLE, and AS, the proportions of liver function abnormalities were similar across all age groups. In SS, the proportion of liver function abnormalities increased with age [<40 years: 14.9%(294/1 979); 40-59 years: 18.1%(858/4 741); ≥60 years: 20.4%(472/2 319)], whereas a reversal of this trend was observed in gout [<40 years: 34.9%(4 294/12 320); 40-59 years: 25.5%(2 905/11 398);≥60 years: 21.0%(1 042/4 971)]. Conclusions: The proportions of combined liver function abnormalities in patients with rheumatologic diseases were high, and the utilization rates of liver-protective drugs were low. It is necessary to pay more attention to monitoring patients' liver function, timely administer liver-protective drugs, and optimize liver-protective regimens during the treatment of rheumatic diseases.

[Recommendations of diagnosis and treatment of polyarteritis nodosa].

Polyarteritis nodosa (PAN) is a rare vasculitis that mainly involves small and medium arteries. It often occurs at the points where the vessels bifurcate, leading to microaneurysm formation, thrombosis, aneurysm rupture and bleeding, and infarction of organs.About a third of cases are associated with hepatitis B virus (HBV) infection.All tissues and organs of the body can be affected, with skin, joints and peripheral nerves being the most common.The pathological changes were fibrinoid necrosis, inflammatory cell infiltration and luminal thrombosis in the acute stage, and fibrous hyperplasia in the chronic stage.Overall outcomes for the disease have improved in recent decades, mainly reflecting early diagnosis and more effective treatments.The main treatments for PAN are glucocorticoid and cyclophosphamide.Patients with HBV-associated PAN should receive antiviral therapy and plasma exchange.

[Relationship of serum 25- hydroxy vitamin D and systemic lupus erythematosus].

OBJECTIVE: To investigate the application value of serum 25-hydroxy vitamin D [25(OH)D] in systemic lupus erythematosus (SLE). METHODS: Data of 158 patients with SLE in Department of Rheumatology and Immunology in the People's Hospital of Xinjiang Uygur Autonomous Region from July 2016 to July 2019. All the SLE patients were divided into two groups by SLE scores of the disease activity index (SLEADI): 59 cases of active group (SLEADI > 4), 99 cases of non-active group (SLEDAI ≤4). Fifty healthy people were selected as healthy control group. The patients' general information and their laboratory data including serum 25(OH)D levels were collected. Statistical methods used were t-test, Spearman's correalation analysis and Logistic regression analysis. RESULTS: (1) A total of 208 cases were included in this study. The level of 25(OH)D in SLE group [10.4(5.6, 15.8) µg/L] was significantly lower than that in healthy control group [25.5(22.8, 32.3) µg/L, P < 0.01]. 25(OH)D level in active SLE patients [6.2(3.7, 13.8) µg/L] was significantly lower than that in remission SLE patients [12.3(7.2, 16.7) µg/L, P < 0.01]. The serum 25(OH)D level in lupus nephritis [6.7 (4.4, 12.9) µg/L] was significantly lower than that in SLE without renal involvement [13.3 (7.4, 18.7) µg/L, P < 0.01]. (2) A significant negative correlation was demonstrated between the serum level of 25(OH)D and SLEDAI (r=-0.35, P < 0.01), and the 24h urinary protein excretion (r=-0.39, P < 0.01).Positive correlation was demonstrated between the serum level of 25(OH)D and C3 that decreased (r=0.249, P < 0.05). (3) Univariate analysis showed anti- dsDNA antibodies(ds-DNA), anti-Sm antibodies(Sm), IgG, C3, C4, erythrocyte sedimentation rate (ESR), 24h urinary protein quantification(24h-pro) and 25(OH)D were associated with disease activity in the SLE patients; Multivariate Logistic regression analysis showed that 25(OH)D was associated with the disease activity of the lupus patients. CONCLUSION: The decrease of vitamin D level is related to the disease activity of SLE patients, and may be related to lupus nephritis, which plays an important role in the occurrence and development of SLE.

[Analysis of bleeding risk in percutaneous renal biopsy in Tibet].

OBJECTIVE: To observe the postoperative bleeding after percutaneous renal biopsy (PRB) in Tibet, To analyze and summarize the risk factors associated with bleeding in high altitude patients to improve the safety of surgery. METHODS: A retrospective analysis of 150 cases of PRB in the Department of Nephrology, People's Hospital of Tibet Autonomous Region from May 2016 to May 2018 were carried out, and the correlations between the potential risk factors (gender, age, blood pressure, hemoglobin, platelet, serum creatinine) and postoperative bleeding events were analyzed. RESULTS: During the study period, the 150 patients receiving procedure of PRB were enrolled in our hospital, with an average age of (41.2±15.6) years, of whom 58.7% (88/150) were male, 41.3% (62/150) were female, and major bleeding complications occurred in 12 biopsies (8.0%, 12/150). Six cases for men and women, respectively. The mean age in the bleeding group seemed to be higher than that in the non-bleeding group [(48.3±20.0) years vs. (40.6±15.1) years, P=0.099]. There was no significant difference in the incidence of hypertension, hemoglobinemia, urea nitrogen and prothrombin time between the two groups. The level of serum creatinine in the hemorrhage group seemed to be higher than that in the non-bleeding group (P=0.090), and the time of the hemorrhagic group was longer than that in the non-bleeding group (P=0.069). The platelet count in the bleeding group was significantly lower than that in the non-bleeding group (P < 0.05). Multivariate Logistic regression analysis showed that the prolonged activation of partial prothrombin time and lower platelet count had a relatively high risk of bleeding, which was statistically significant (P=0.079, P=0.082). CONCLUSION: PRB is safe and reliable on the whole in plateau areas; Old age, low platelet count, decreased renal function and prolonged activated partial coagulation time are related to postoperative bleeding of PRB, and hyperhemoglobin is not a risk factor for bleeding. High hemoglobin is not a risk factor for postoperative bleeding of PRB at high altitude.

[Clinical features of patients with Rhupus syndrome].

OBJECTIVE: To investigate the clinical and serological features of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) overlap syndrome (Rhupus syndrome). METHODS: We retrospectively reviewed the medical records of 21 patients with Rhupus syndrome who were hospitalized at Department of Rheumatology and Immunology, People's Hospital of Xinjiang Uygur Autonomous Region between January 2010 and January 2018. We compared the joint involvement, autoantibodies and clinical manifestations of Rhupus syndrome with 81 cases of RA-alone and 51 cases of SLE-alone. RESULTS: In 21 patients with Rhupus syndrome, there are 3 males and 18 females. Compared with the SLE-alone group, the patients with Rhupus syndrome were older [(49.43±11.66) vs. (40.59±12.73), P=0.008]. The median age of the patients with Rhupus syndrome at RA onset was significantly younger than that of the RA-alone patients [(32.58±11.14) vs. (43.11±11.83), P=0.010]. Of the 21 patients with Rhupus syndrome, the initial diagnosis was RA in 57% (12/21), except 2 male patients, the other 10 patients with SLE manifestations were menopause, the mean age of amenorrhea or menopause was (44.30±5.33) (36-50) years. The mean interval between the onset of SLE and RA was 10.83 years. Two patients started with SLE manifestations. Moreover, both diseases simultaneously developed in 33.3% of the patients. Except one male patient, 3 patients were in menopause stage when RA and SLE appeared. The positive rate of specific antibody Rhupus syndrome was similar to that of RA. Renal damage was relatively rare in SLE related manifestations, but the incidence of interstitial lung disease was higher. There were no significant differences in the prevalence of complements C3 and C4, antinuclear antibody (ANA), anti-double-stranded DNA (anti-dsDNA), anti-SSA or anti-SSB antibody between the Rhupus syndrome and SLE-alone group. CONCLUSION: Rhupus syndrome is an overlapping syndrome in which RA and SLE coexist. Most of the diseases occur in RA and the related manifestations of RA are more serious than those of SLE. The incidence of Rhupus syndrome may be related to the change of sex hormone levels.

[The clinical significance of serum autoantibodies and HLA-B(27) molecule testing in Uygur patients with human immunodeficiency virus infection].

Objective: To explore the clinical value of serum autoantibodies and human leukocyte antigen (HLA-B(27)) molecular testing in Uygur patients with human immunodeficiency virus (HIV) infection. Method: A total of 727 HIV-infected Uygur patients who visited Kuche infectious diseases hospital during May 2016 to March 2017 were include in this study. The other 390 healthy people were enrolled as controls. Serum antinuclear antibodies (ANA), anti-cyclic citrullinated peptide (CCP) antibody, anti-extractable nuclear antigen (ENAs) antibody and HLA-B(27) molecule were tested. Result: Among 727 HIV-infected Uygur patients, 317 were males and 410 were females with mean age (35.52±13.44) years old. The mean duration of disease was (6.34±3.05) years. There were 697 (95.87%) patients receiving highly active antiretroviral therapy (HAART) with mean duration of treatment (5.52±3.47) years. The mean CD4(+)T cell count was (520±271) cells/µl in 202 HIV-infected patients, and mean virus load was (108 139±20 498) copies/ml in 20 HIV-infected patients. Rheumatic manifestations were recorded in 238 (32.74%) HIV-infected Uygur patients, mainly with dry mouth and dry eye (15.41%) , alopecia (9.90%) , arthralgia (8.94%) , ect. Compared with the health controls, positive ANA was more common in HIV infected Uygur patients (33.43% vs. 17.43%, P<0.001) with low titers (ANA titer:1∶100) . HIV-infected Uygur patients had higher positive anti-u1-RNP antibodies positive rate (1.10%), but lower anti-SSA antibodies positive rate (0.14%) and anti-CCP antibodies positive rate (0.28%). Patients with positive ANA in HAART group were significantly less than that in non-treatment group (32.71% vs. 50.00%, P=0.049). There were no correlations between ANA and duration of HAART, CD4(+)T cell counts and virus load (r values 0.061, 0.047, 0.121, respectively. P>0.05). Only one female patient was HLA-B(27) positive (0.14%), which was significantly lower than that in healthy controls (3.08%) (P<0.001). Also, only one patient was diagnosed with rheumatoid arthritis (RA). Conclusion: Autoimmune manifestations are common in HIV-infected Uygur patients. Several autoantibodies are positive, but the coincidence of rheumatic diseases is rare. It's noted that patients with autoimmune manifestations should be considered as a differential diagnosis of HIV infection.

[Practice guideline for patients with hyperuricemia/gout].

Hyperuricemia/gout is a common metabolic disease in China, which is a serious threat to people's health. In clinical practice, the standardization of prevention and diagnosis and the rate of treat-to-target need to be improved. There is still a lack of education for the patients about the understanding of clinical guidelines, the disease knowledge and the importance of cooperating with doctors to carry out diagnosis and treatment. From the most concerned issues of the patients, we established the hyperuricemia/gout patient practice guideline working group with multidisciplinary physicians and patients. Seventeen opinions, as the hyperuricemia/gout patient practice guidelines, are proposed in accordance with the relevant principles of the "WHO guidelines development manual" , and with the international normative process, aiming to improve the patients compliance, improve the level of health management of the disease.

[Multicenter performance of the different classification criteria for rheumatoid arthritis].

OBJECTIVE: To evaluate the classification criteria of early rheumatoid arthritis (ERA) and compare the sensitivity and specificity with the criteria of 1987 American College of Rheumatology (ACR) criteria and 2010 ACR/European League Against Rheumatism (EULAR). METHODS: Patients from 4 hospitals, aged more than 16 years, with arthritis, whose disease duration was ≤1 year, and with ≥1 joint pain and swelling were enrolled in the study. The indicators including clinical manifestations, laboratory tests and imaging examinations were observed. The ERA patients were dignosed by two experienced rheumatologists based on the clinical features, drug therapy information and radiography features. RESULTS: (1) A total of 325 patients with arthritis were enrolled, including 98 males (30.15%) and 227 females (69.85%), The average age was (47.53±14.44) years, and the median disease duration was 5 (2, 8) months. Finally, 236 patients were dignosed with ERA, and 89 patients were dignosed with other diseases (Non-ERA, including osteoarthritis, reactive arthritis, undifferentiated arthritis, spondyloarthritis, etc). (2) The sensitivity of ERA criteria was 87.29%, and the specificity was 84.37%. The sensitivity was higher than that of 1987 ACR criteria (χ2=43.641, P < 0.001), and had no significant difference compared with 2010 ACR/EULAR criteria (χ2=0.446, P=0.593). But the specificity of ERA criteria was lower than that of 1987 ACR criteria (χ2=4.891, P=0.027), which was not statistically significant compared with 2010 ACR/EULAR criteria (χ2=0.044, P=1.000). (3) In the patients with arthritis whose disease duration was ≤3 months and ≤6 months, the sensitivity of ERA criteria was 81.71% and 86.79%, respectively, both were higher than the 1987 ACR criteria (χ2=7.131, P=0.008; χ2=22.015, P < 0.001) and had no statistically difference compared with the 2010 ACR/EULAR criteria (χ2=0.220, P=0.755; χ2=0.473, P=0.491). The differences of the three criteria in specificity were not statistically significant. (4) The three different classification criteria were consistent with the clinical diagnosis, among which the ERA criteria and 2010 ACR/EULAR criteria were slightly higher (Kappa>0.6). The results of the consistency comparison between the three criteria showed that the ERA criteria and 2010 ACR/EULAR criteria had a better consistency (Kappa=0.836). CONCLUSION: The sensitivity of ERA classification criteria in the diagnosis of ERA was higher than that of 1987 ACR criteria, and was equivalent to that of 2010 ACR/EULAR criteria. There is no significant difference in specificity between these three criteria. The ERA criteria can also identify patients with RA at a very early stage in arthritis with disease duration ≤3 months.

[Value of musculoskeletal ultrasound in assessing the disease activity in rheumatoid arthritis].

Objective: To investigate the value of musculoskeletal ultrasound (MSUS) in assessing the disease activity of rheumatoid arthritis (RA). Methods: As a retrospective study, clinical data, laboratory test results and MSUS results of 22 joints (2 wrist joints, 10 metacarpophalangeal joints, 2 thumb interphalangeal joints, 8 proximal interphalangeal joints) were collected from 403 hospitalized RA patients (including Han and Uygur patients) in the People's Hospital of the Xinjiang Uygur Autonomous Region from January 2016 to December 2016. Result: (1) There was a positive correlation between swollen joints count, tender joints count, erythrocyte sedimentation rate, C-reaction protein and sum scores of articular cavity effusion, Grey Scale (GS), Power Doppler (PD), tenosynovitis in RA patients; (2)there was a positive correlation between DAS28-ESR, DAS28-CRP, SDAI, CDAI and sum scores of effusion, GS, PD, tenosynovitis in RA patients. The ulnar extensor tendon of the wrist of RA patients was more susceptible to extensor tendon than other extensor tendons; (3)there was significant statistical difference between Uygur and Han RA patients in bone erosion (P<0.05), however the statistical difference between Uygur and Han RA patients in effusion, GS or PD score was not significant (P>0.05). Few Uygur RA patients achieved clinical remission and subclinical synovitis was not detected, while such subclinical synovitis was detected in Han RA patients who achieved clinical remission. Conclusion: The MUSU can assess the disease activity of RA patients, and provide a more direct and objective evidence for the rapid evaluation of disease.

[The diagnostic value of serum KL-6 in connective tissue disease associated interstitial lung disease].

Objective: To evaluate the diagnostic value of the serum Krebs von den Lungen-6 (KL-6) for the interstitial lung disease associated with connective tissue diseases (CTD-ILD). Methods: 84 patients with CTD-ILD (CTD-ILD group) and 91 patients with connective tissue disease (CTD group) who visited the department of rheumatology and immunology of People's Hospital of Xinjiang Uygur Autonomous Region between January, 2016 and December, 2017 were included. Serum KL-6 levels were measured by commercially available enzyme linked immunosorbent assay (ELISA) kits. Results: The significantly higher levels of KL-6 were determined in the CTD-ILD group than CTD group [1 239 (577, 2 094) vs 152 (89, 280) U/ml] (P<0.001). The optimal cutoff value of serum KL-6 for diagnosis of CTD-ILD was 402 U/ml, and the sensitivity and specificity were 82.1% and 86.8%, respectively. Area Under the Curve (AUC) was 0.905. Logistic regression analysis revealed that elevated KL-6 and decreased Carbon monoxide diffusion capacity were independently correlated with the occurrence of CTD-ILD, the decreased of DLcoSB% (OR=0.928, 95%CI: 0.891-0.968) and increase of KL-6 level (OR=1.005, 95%CI: 1.003-1.007) was the independent risk factor for the occurrence of ILD. Conclusion: The serum KL-6 is an important biomarker for the diagnosis of CTD-ILD and when the level of KL-6 is increased, the ILD should be alert.

[Analysis of screening strategy of group B streptococcus in the third trimester and its influence on pregnancy outcome].

Objective: To investigate the screening strategy of group B streptococcus (GBS) in the reproductive tract of women in the third trimester and analyze its impact on pregnancy outcome. Methods: A total of 85 461 pregnant women in 35-37 weeks of gestation from Bao'an Maternity and Child Health Hospital, Jinan University from January 2011 to June 2018 were enrolled. They were divided into 3 periods according to different GBS screening strategies, the unscreened period included 31 384 cases (36.72%), 33 267 cases (38.93%) were included in partial screening period, 20 810 cases (24.35%) were included in screening period. All GBS screening positive pregnant women were given intrapartum antibiotic prophylaxis (IAP). The impact on pregnancy outcomes, and the impact of different GBS collection transport and culture methods on the positive rate of GBS screening were analyzed. Results: (1) The incidence of neonatal early onset GBS disease (EOGBSD) in unscreened period was 0.03% (11/31 773), in partial screening period was 0.02%(6/33 887), and in screening period, the incidence of neonatal EOGBSD decreased to 0, the difference was statistically significant (χ(2)=7.86, P=0.02).(2) The incidence of hematogenous infection of GBS in pregnant women was 0.02%(6/33 887) in partial screening period, and there was none in screening period, there was no significant difference (adjusted χ(2)=3.75, P=0.05). (3) In the screening period, the positive rate of GBS was 14.08%(2 719/19 306), which was significantly higher than the positive rate of GBS in the partial screening period (11.48%, 2 058/17 920; χ(2)=56.12, P=0.00). (4) Antibiotic sensitivity tests of 4 777 GBS strains showed that the antibiotics with higher resistance rate were tetracycline (81.52%, 3 896/4 777), erythromycin (66.59%, 3 181/4 777), and clindamycin (64.31%, 3 072/4 777). The combination of erythromycin, clindamycin and tetracycline was the most common resistant pattern, accounting for 48.80% (2 331/4 777). No penicillin, ceftriaxone or vancomycin resistant strains was found. Conclusions: GBS screening strategy in different regions could combine the local neonatal EOGBSD incidence rate, maternal GBS colonization rate, and the socioeconomic factors to determine whether universal GBS screening or screening for high-risk maternal women. GBS screening positive rate is related to the population, scope of the investigation, the sample collection, delivery and culture methods. The multi-drug resistance rate of GBS is high.

[Mode of median nerve irritation under different wrist forcing postures observed by ultrasonography and foot pressure measurement system].

Objective: To analyze the influence of simulation mouse use motion under different wrist forcing postures on median nerve, tendons and ligaments in the carpal tunnel. Methods: From June to November in 2017, a total of 49 healthy volunteers [aged from 18 to 27 years, 24 males (48 cases of hands) and 25 females (50 cases of hands)] were selected in the Institute of Digitized Medicine and First Affiliated Hospital of Wenzhou Medical University.Three hand postures of the volunteers were simultaneously and continuously measured by using LOGIQ E9 ultrasonic diagnostic apparatus and Zebris foot pressure distribution measurement system.Seventeen parameters of nerves, tendons and ligaments in carpal tunnel were observed under natural (0 N), and two forced (25 and 50 N) states.Double factor variance analysis was performed with generalized estimating equation (GEE). Results: With increasing pressure (0, 25 and 50 N) of hand postures, the distance between median nerve and transverse carpal ligament were all less than 0.2 cm.The differences in both the distance between median nerve and flexor pollicis longus under the hand pressure changes or under the hand posture changes and the top angle of a triangle composed of median nerve, flexor pollicis longus and flexor digitorum superficialis group under the hand pressure changes or under the hand posture changes were all significant under the GEE analysis (all P<0.01). There were no significant changes in all other structural parameters in the carpal tunnel with the increasing of hand pressure (all P>0.05). Conclusions: The influence of the transverse carpal ligament to the median nerve belongs to the mechanism of pressure-induced irritation damage.The influence of flexor pollicis longus to median nerve belongs to the mechanism of tension-induced irritation damage.The influence of flexor digitorum superficialis to median nerve belongs to the mechanism of mixed shear irritation damage.

[Angiofibroma of soft tissue: a clinicopathologic analysis of 24 cases].

Objective: To investigate the clinicopathologic and genetic features, pathologic diagnosis and differential diagnosis of angiofibroma of soft tissue(AFST). Methods: The clinicopathologic characteristics of 24 cases diagnosed at Fudan University Shanghai Cancer Center from 2011 to 2017 were analyzed; immunohistochemical staining and interphase fluorescence in situ hybridization (FISH) were performed, and the literatures were also reviewed. Results: There were 15 male and 9 female (male∶female=1.7∶1.0) patients with age of onset ranging from 8 to 68 years (mean, 45 years). Fourteen cases occurred in extremities, including upper limbs (n=3) and lower limbs (n=11); seven cases were in the trunk, and 1 case each was in the temporal region, retroperitoneum and liver, respectively. Clinically, the tumors usually presented as a slowly growing painless mass. Tumor sizes ranged from 0.8 to 14 cm (mean 4.6 cm). Microscopically, most lesions were well-circumscribed, with fibrous capsules. Few cases infiltrated the surrounding fibrofatty tissue focally. The tumors were mainly composed of sparse short spindle cells and numerous small, branching, thin-walled blood vessels distributed in amyxoid, fibromyxoid or collagenous matrix, often accompanied by medium-sized, round or irregular and ecstatic vessels at the tumor periphery.By immunohistochemistry, all tested cases expressed vimentin (5/5), and showed variable positivity for EMA (2/4), ER (1/2), PR (2/3), α-SMA (1/18)and desmin (1/10). Ki-67 proliferation index were all less than 5%. CD34, CD31 and ERG staining clearly outlined the contours of blood vessels in the stroma. Four cases were tested for NCOA2 gene rearrangement by FISH, of which three were positive. Follow-up data was available in 17 patients (range, 3 to 69 months; mean, 30 months) were all free of disease. Conclusions: Soft tissue angiofibroma is a benign fibroblastic neoplasm characterized by a prominent and complex vasculature set in a myxoid-to-collagenous stroma, and cytogenetically a distinctive NCOA2 gene rearrangement. Caution should be exercised for the possibility of potentially misinterpretation of AFST as vascular tumors and other myxoid soft tissue tumors.

Laparoscopic extraperitoneal uterine suspension with suture line instead of mesh.

OBJECTIVE: To compare the safety and effectiveness of two different materials (mesh and suture line) used in laparoscopic extraperitoneal uterine suspension. DESIGN: A retrospective observational study. SETTING: Gynaecology departments in two hospitals in China. POPULATION: Women with symptomatic pelvic organ prolapse (POP) of stage II or higher. METHODS: The women were divided into two groups according to the two different materials for laparoscopic extraperitoneal uterine suspension: mesh or suture line. The baseline characteristics, perioperative details, complications, objective and subjective indexes of the two groups were compared. MAIN OUTCOME MEASURES: The primary outcome was subjective satisfaction rate based upon validated questionnaires. The secondary outcome was objective anatomic assessment with the POP-Q system. RESULTS: No difference was found in baseline characteristics and perioperative details except that there were more cases of cardiovascular disease (CVD) and associated other surgeries in the Line than the Mesh group (36 versus 19, P < 0.05; 12 versus 2, P < 0.05). Statistically significant improvements were found in anatomical measures of points Aa, Ba, Ap, Bp, C and TVL (P < 0.01), as well as functional and quality-of-life measures (P < 0.01 for PFDI-20 and PFIQ-7) between both groups. The postoperative PFDI-20, PFIQ-7 and PGI-I scores were not different between two groups (P > 0.05). Two cases of deep wound infection were observed in Mesh group at 3-month follow up. CONCLUSIONS: Laparoscopic extraperitoneal linear uterine suspension is easy to perform and is associated with fewer mesh-related complications. It is more secure, especially in elderly women and in those with physical complications. TWEETABLE ABSTRACT: Laparoscopic extraperitoneal linear uterine suspension is safe, with fewer mesh-related complications.

[Effect of simulating leg length inequality on spinal and pelvic posture in the elderly].

Objective: To study the effects of simulating leg length inequality on the spine and pelvic posture in standing and walking states and to explore their compensatory laws. Methods: From January to April, a total of 44 healthy volunteers were rasterstereographically examined for spine and pelvis in Institute of Digitized Medicine, Wenzhou Medical University and Department of Orthopaedics, First Affiliated Hospital of Wenzhou Medical University.Volunteers wore uniform shoes, and single 5 mm thick insoles were customized.The simulating leg length inequalities (5-30 mm) were artificially created by increasing insole height.The parameters of 3D body surface parameters and 4D dynamic parameters of the pelvic and spine were measured and statistically analyzed in standing and walking states. Results: In the static standing state, with the increase of the difference of both lower extremities, coronal plane pelvic tilt and sagittal plane pelvic torsion also increased[the maximum value about (10.6±4.3) mm and (3.3±3.5)°], as well as the frontal deviation of the spine [the maximum value about (11.1±17.9) mm]. But the pelvic rotation, vertebral surface rotation angle (rms) and spine sagittal plane deviation were no obvious changes.In the walking state, with the difference between lower extremities increased, the maximum angles of vertebral surface rotation to the left and right and pelvic rotation to the left and right were no obvious changes, but (coronal) spinal maximum offset distance to left and right increased [the maximum value about (9.8±5.1), (10.4±6.9) mm]. Conclusion: The effect of the leg length discrepancy on the pelvic coronal plane and the sagittal plane changes are obvious, but little effect has on the pelvic cross section.The pelvis is compensated by the increase of the inclination of the coronal plane and the sagittal angle at first order.Similarly, the effect on the coronal plane of the spine is more markedly, but the changes of sagittal and cross-section of the spine is less affected, the spine is mainly compensated by the coronal plane bending at second order.

[Effect of genetic polymorphisms on change in body mass index and obesity status during childhood].

Objective: The present study aimed to prospectively validate whether the single nucleotide polymorphisms (SNPs) in obesity-related genes were associated with change in body mass index (BMI) and obesity status during childhood. Methods: Based on the Beijing Child and Adolescent Metabolic Syndrome study (BCAMS), which was initiated between April and October in 2004, we conducted a follow-up study among 1 624 children aged 6 to 11 years old with genetic data in December 2010. A total of 777 children (246 obese and 531 non-obese) were reassessed for BMI. Z-score of BMI was used to standardize for age and sex. The changes in BMI Z-score during follow up were calcnlated SNPs were genotyped by quantitative Real-time PCR (rs9939609, rs6499640, rs7138803, rs1805081, rs17782313, rs6265, rs10938397, rs6235, rs29941, rs2844479, rs10913469 and rs4788102). Overweight and obesity were diagnosed by the age-and sex-specific BMI cutoffs recommended by the International Obesity Task Force. A multilocus genetic risk score for BMI was calculated as the simple sum of alleles of all the SNPs associated with BMI. Linear regression models and logistic regression models were performed to assess the associations of change in BMI Z-score and obese status with genotypes (assuming an additive model), respectively. Results: During 6 years of follow-up, 158 previously obese children remained obese as they aged into adolescence, and 88 transiently obese children were not obese during the second survey, 58 children were newly identified obese, and the other 473 children remained their non-obese state. BMI Z-score increased from 1.41±0.05 at baseline to 1.57±0.06 at follow up.The genotypes of the SNPs except rs6499640(P=0.033) and rs6265(P=0.041) were in Hardy-Weinberg equilibrium in each group (P>0.05). Each additional copy of the rs9939609 A allele was significantly associated with an increase in BMI Z-score (ß=0.205, P=0.014) during follow up. Per C allele of rs17782313 was associated with an increase in BMI Z-score at baseline (ß=0.268, P=0.003). As the non-obese reference, a significantly relative risk of obesity at follow up was observed for children carrying rs9939609 A-allele versus the T-allele carriers (OR=2.37, 95%CI: 1.45-3.88, P=0.001). Rs17782313 C-allele was significantly increase the risk of obesity only at baseline (OR=1.79, 95%CI: 1.24-2.60, P=0.002). Rs1805081 A-allele was significantly associated with durative of obesity (OR=1.45, 95%CI: 1.04-2.03, P=0.028). Each unit higher genetic risk score was associated with increases risk of 0.18 times (OR=1.18, 95%CI: 1.05-1.33) in childhood transient obesity, and 0.22 times (OR=1.22, 95% CI: 1.06-1.42) in incident obesity at follow-up. But it was not significantly associated with persisted obesity during 6 years of follow-up (OR=1.09, 95% CI: 0.99-1.20). Conclusion: We confirmed that the change of BMI and obesity status in children was affected by different genetic factors. Individual who carries more risk alleles in obesity-related genes may increase the susceptibility to obesity.

[Values of JAZF1 gene rearrangement detected by fluorescence in-situ hybridization in diagnosis of endometrial stromal tumours].

Objective: To investigate the role of JAZF1 gene rearrangement in the diagnosis and differential diagnosis of endometrial stromal sarcomas by fluorescence in situ hybridization (FISH). Methods: JAZF1 gene rearrangement was analyzed by FISH in 129 cases of ESS diagnosed from January 2008 to December 2016 including 105 cases of low-grade endometrial stromal sarcoma (LG-ESS), 21 cases of high-grade endometrial stromal sarcoma (HG-ESS) and 3 cases of undifferentiated uterine sarcoma (UUS). Sixteen cases of the related tumours in uterus were also collected as control group. The results were compared with our previous studies of JAZF1/JJAZ1 fusion gene in ESS by RT-PCR. Results: Detection of JAZF1 gene rearrangement by FISH was successfully analyzed in 144 cases. JAZF1 gene alteration was detected in 63 cases, all of which were LG-ESS, with an overall positivity of 60.6% (63/104), while no JAZF1 gene rearrangement was found in all other cases. JAZF1 gene rearrangement was present in LG-ESS with classic histology (69.3%, 52/75), smooth muscle differentiation (2/10), sex cord-like differentiation (4/5), fibromyxoid change (1/5), clear cell change (0/1), skeletal muscle differentiation (0/1), and schwannoma-like palisading pattern (0/1). The different components in all the cases of LG-ESS with variant histology had the clonal origin, with or without JAZF1 gene alteration. Compared to the results of JAZF1/JJAZ1 fusion gene by RT-PCR, the positive rate of JAZF1 gene rearrangement in LG-ESS by FISH (61.9%, 26/42) was significantly higher than that of RT-PCR (30.0%, 12/40; P<0.01). Conclusions: JAZF1 gene rearrangement is present only in LG-ESS, but not in HG-ESS, UUS or other related tumours in uterus. The frequency of JAZF1 gene rearrangement varies between classic LG-ESS and different morphologic variants. It is frequently, but not consistently, present in classic LG-ESS and less often positive in variant cases. The results of JAZF1 gene alterations in LG-ESS with different morphologic variants support the contention that the endometrial stromal and their variant morphologic components have the same clonal origin. Detection of JAZF1 gene rearrangement by FISH is very useful for the diagnosis and differential diagnosis of ESS.

Letter to the Editor Reply to commentary by G. Sikri and S. Dua on the article "Correlation between single nucleotide polymorphisms in hypoxia-related genes and susceptibility to acute high-altitude pulmonary edema" published in Genetics and Molecular Research 14 (3): 11562-11572 to the letter published in Genet. Mol. Res. 14 (4): 15904-15905.

The object in this study was a Han Chinese population in Lhasa, with 3658 m in altitude from Chengdu, which has 505 m in altitude by air. Within 24 to 48 h before the subjects arrived in the plateau, they completed a basic situation questionnaire, under the guidance of medical staff. Within 24 to 48 h after they reached the plateau, the subjects completed an acute plateau disease questionnaire. The diagnostic standard of HAPE and the diagnosis of acute plateau disease were adopted by the Lake Louise diagnostic standards in 1991 and the Chinese Medical Association promulgated the domestic diagnostic criteria on the Third National Plateau Medical Academic Seminar. Other diseases that cause acute symptoms of altitude sickness, such as plateau pulmonary edema, plateau cerebral edema, acute respiratory infections and neurosis, were excluded. According to the Lake Louise standard, questionnaire and symptom score values >3 points were diagnosed as HAPE. According to the national standard, the questionnaire and symptom score values >5 points were diagnosed as HAPE. At the present, morbidity of HAPE remains relatively high in China. The research shows that usually in the case of not taking preventive measures, according to the factors such as altitude, speed, and time of arrival, the incidence of HAPE is 30% to 90%. Epidemiological survey shows that HAPE happens at an altitude of 2500 m above the plateau. And an altitude of 3000 m above the plateau of China is occupied 1/6 of the total land area, the population of permanent residents is more than sixty million. We detected the 200 cases who adapted to plateau and the 106 cases of patients with HAPE susceptibility genes SNP locus, and got the key SNP loci of HAPE susceptibility genes. We maked the corresponding gene chip diagnostic kits.

Snail-induced epithelial-mesenchymal transition in gastric carcinoma cells and generation of cancer stem cell characteristics.

Biological changes in Snail-overexpressed SGC7901 cells were studied by establishing a pEGFP-C1-Snail carrier. The significance of Snail in epithelial-mesenchymal transition (EMT) as well as the invasion and metastatic capacity of gastric cancer cells was also discussed; moreover, we attempted to verify the probable cancer stem cell characteristics of Snail-overexpressed cells. A pEGFP-C1-Snail eukaryotic expression plasmid was constructed and pEGFP-C1(-) and pEGFP-C1-Snail plasmids were extracted and transfected into SGC7901 cells using Lipofectamine 2000. Stably expressed SGC7901-N [control group containing pEGFP-C1(-)] and SGC7901-S (test group containing pEGFP-C1-Snail) cells were screened using a G418 resistance medium. Snail, E-cadherin, b-catenin, vimentin, and fibronectin gene and protein expressions were detected by real-time quantitative PCR, western blot, and immunofluorescence. Cell invasion and metastasis were tested by scratch test, invasion assay, and an adhesion experiment. The positive rate of aldehyde dehydrogenase-1 (ALDH-1) expression was analyzed by flow cytometry. The results indicated the occurrence of EMT, accompanied by morphological changes in the cells and a weakening of the cell adhesion capacity. We also observed a decrease in the expression of epithelial markers E-cadherin and b-catenin and an increase in mesenchymal (Snail and vimentin) marker expression. Moreover, the cells showed increased invasiveness and metastatic capacity, and decreased proliferative ability. Moreover, the Snail-treated SGC7901 cells moved towards the scratch and produced fewer clones compared to the control cells. Owing to its capacity for self-renewal, SGC7901-S cells produced new clones and expressed ALDH-1. Therefore, we concluded that Snail overexpression induced EMT and endowed cells with tumor stem cell characteristics.

Interleukin-6 -572G/C polymorphism and prostate cancer susceptibility.

Strong evidence suggests that cancer-associated inflammation promotes tumor growth and progression, and interleukin-6 (IL6) is an important modulator of inflammation. However, the roles of IL6 and mutations of its corresponding gene in prostate cancer have not been clearly documented. We retrieved data from the Oncomine database concerning IL6 expression in prostate cancer and its role in prostate-specific antigen (PSA) recurrence. We also performed a case-control study of the IL6 -572G/C polymorphism (rs1800796) in 236 sporadic prostate cancer patients and 256 healthy controls from a southern Han Chinese population. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association between rs1800796 and prostate cancer susceptibility. A dual-luciferase reporter assay was used to test the transcriptional activity of the IL6 promoter G and C alleles. IL6 was overexpressed in prostate cancer tissues compared to normal tissues, especially in those with higher Gleason scores. Moreover, elevated IL6 expression was associated with high PSA recurrence rate in Oncomine data. Our case-control study demonstrated that compared with the -572C allele, the -572G allele conferred a borderline increased risk of prostate cancer (OR = 1.31, 95%CI = 0.99-1.74, P = 0.061). This was more pronounced in the subgroup of individuals having never smoked (OR = 1.85, 95%CI = 1.07-3.22). Moreover, the G allele showed increased activity relative to the C allele in the dual-luciferase reporter assay. Our results suggest that the -572G/C polymorphism may be associated with IL6 expression, which in turn plays a role in prostate cancer development.