Whole-genome sequencing analysis of the victim exposed to a super high dose of iridium-192 during the Nanjing radiological accident in 2014 / 中华放射医学与防护杂志

Objective:To investigate radiation-induced somatic mutations and variations and provide theoretical basis for clarifying radiation-induced genetic changes and long-term effects by whole-genome sequencing analysis of the genetic variations of the victim of the " 5.7" 192Ir radiation accident in Nanjing. Methods:Normal back skin tissue, irradiated bone and soft tissues, and peripheral blood were collected from the victim 2 047 days post-irradiation. DNA of these samples was extracted and sequenced with high-throughput genomics and analyzed by bioinformatics method. The genetic variations of between irradiated and normal tissues were compared.Results:Compared with normal back skin tissue, there are large amounts of genetic variations in the irradiated bone and soft tissues and peripheral blood, including base substitution (transition, transversion), small insertion, small deletion, copy number variation (gain, loss) and structure variation (large deletion, large duplication, inversion, intra-chromosomal translocation, inter-chromosomal translocation). There were 10 666 genetic variations in the irradiated bone and soft tissues and 11 233 genetic variations in peripheral blood, where thousands of genes were involved in. These variations occurred in the exons, introns, UTR′3, UTR′5, splicing sites, within 5 kb upstream of transcription initiation site, within 5 kb downstream of transcription termination site, ncRNA and intergenic region. All chromosomes had genetic variations.Conclusions:There were a large number of genetic variations in the irradiated tissues and blood of the victim at 2 047 days after irradiation, which may affect the body function and cause the long-term effects.

Detection of tumor marker CA199 and CA153 in rheumatoid arthritis and its clinical significance / 国际检验医学杂志

Objective To investigate the correlation between serum tumor markers levels with the disease condition activity and the tumor occurrence in the patients with rheumatoid arthritis(RA).Methods Serum tumor marker CA199,CA153 levels were de-tected in 35 patients with RA (RA group)and 31 healthy controls(normal control group).ESR and CRP were examined and the disease activity (DA)was assessed by the DAS28 score in the RA group.The serum tumor markers levels and the positive rates were compared between the RA group and the normal control group.The correlation between the serum tumor markers levels with ESR,CRP and DAS28 score was analyzed.Results Serum levels and positives rate of CA199,CA153 in the RA group were higher than those in the control group(P <0.05).The serum CA153 level had a positive correlation with the ESR,CRP and DAS28 score in the RA group(P <0.05),but the serum CA199 level had no significant correlation with them.Conclusion The serum levels and positive rates of CA199 and CA199 could be increased in the patients with RA,moreover the increase of serum CA153 level is corre-lated with DA of RA.Therefore the serum tumor marker CA153 level may be used as one of reference indexes for evaluating the DA in the patients with RA.

The characteristics of the levels of serum free light chain and cytokines levels in primary Sj(o)gren's syndrome with amyloidosis and their changes after cyclophosphamide treatment / 中华风湿病学杂志

Objective To study the characteristics of the serum free light chain ( sFLC ) and cytokines levels and the effects of cyclophosphamide (CTX) on patients with primary Sj(0)gren's syndrome (pSS) complicated with amyloidosis.Methods Nine patients of pSS with amyloidosis who were admitted to Department of Rheumatology of the hospital from Jan 2005 to Mar 2011 were selected.The serum levels of sFLC and cytokines TNF-α,TGF-β1,IL-4 were measured before and 3,6,12 months after the treatment respectively.Meanwhile,Twelve patients with pSS without complications were selected as controls.Repeated measures analysis of variance was used for data analysis.Results The sFLC in serum of pSS patients with amyloidosis was λ type,the κ type was not found.The level of serum sFLC after 12 months treatment [(22±42) mg/L]was significantly lower than before treatment [(180±15) mg/L].The levels of TNF-α,TGF-β1,IL-4 after 12months treatment [(24.0±1A),(58±5),(38.8±3.2) ng/L,respectively] were significantly lower than before treatment [(31.1±L0),(65±5),(61.2±3.8) ng/L,respectively].Conclusion The levels of serum sFLC and eytokines are abnormally increased in patients of pSS with amyloidosis.After treatment,the levels of cytokines are decreased initially which indicates that these cytokines may play a key role in the pathogenesis of pSS.CTX therapy may lead to better efficacy and more favorable prognosis.

A 3-year study of patients with Kawasaki's disease complicated with coronary artery lesion / 中华风湿病学杂志

Objective To investigate the prognosis of patients with Kawasaki's disease complicated with coronary artery lesion and to provide evidence for diagnosis and treatment of these patients. Methods This study was conducted during January 2002 to June 2007. All patients diagnosed as Kawasaki's disease complicated with coronary artery lesions were from the Affiliated Hospital of Guilin Medical College, the Second People's Hospital of Guangxi Province and Guilin Women and Childrens' Hospital. All cases were echocardiogram examined in month 3, 6, 12, 24 and 36 in the purpose of observing the morphology of coronary artery. The study subjects were re-categorized to the groups of mild, moderate dilatation of coronary artery and giant coronary aneurysm, based on the severity of coronary artery lesion. The results of these results of the three groups were compared. Results Eighty-four cases in the mild group, 27 cases in the moderate group and 8 cases in the giant coronary aneurysm. The recovery cases were 23 (27%), 3 (11%) and 0 in the 3 groups respectively at month 3. The above numbers were 44 (52%), 8 (30%) and 0 respectively at month 6.The numbers were 69(82%), 13 (48%) and 1 (13%) at month 12. The numbers were 78 (93%), 19 (70%), 3 (38%) at month 24. The numbers were 82(98%), 20(74%) and 4(50%) at month 36. Thirteen patients were treated with adenosine-triphosphate (ATP) stress echocardiography examiantion, 5 patients were evaluated by coronary angiography,and 4 patients were tested by 64-slice CT coronary reconstruction. Part of the patients were found to have coronary stenosis or occlusion. Conclusion Patients of Kawasaki's disease often have concurrent coronary artery lesions. Patients with mild dilatation of the coronary artery are the most commonly seen and have the best prognosis. On the contrast, patients with giant coronary aneurysm are the lest common situation and is the worst in prognosis. Part of them will develop coronary artery stenosis or occlusion in late stage which may lead to ischemic heart disease. We should stress on close follow-up of patients with Kawasaki's disease complicated with coronary artery lesion. Appropriate and timely treatment will increase their clinical outcomes.

Observation on low-dose intravenous cyclophosphamide combined with standard-dose hormone in treatment of old patients with systemic lupus erythematosus / 中国基层医药

ObjectiveTo assess the efficacy of low-dose intravenous cyclophosphmide (IV CTX) in treatmerit of old patients with systemic lupus erythematosus(SLE).MethodsTwenty-three old patients with newly diagnosed, untreated SLE were included.Patients received 3 times fortnightly IV CTX pulses at a fixed dose of 400mg followed by 3 monthly pulses.All patients were orally administered 0.8mg/kg of prednisone.The changes of the indexes were observed before and after 12 weeks treatment including the scores of SLE disease activity index(SLEDAI) and the levels of C3, C4 ,24-hour urinary protein and anti-dsDNA antibody.ResultsAmong 23 patients, 19 were followed up to 24 weeks, SLEDAI 4 weeks after treatment were all significantly lower than those before the treatment (P ＜0.01).At week 8, SLEDAI continued to decrease(P ＜0.05).At week 4,the level of urine protein, the levels of complements C3 and C4 and ds-DNA decreased significantly compared with that before the treatment (P ＜0.05).ConclusionIntensive low-dose CTX plus prednisone was effective in newly diagnosed, untreated old patients with SLE, and could reduce adverse effect.