流式细胞术检测98例献血者外周血HLA-B27的临床意义

目的 通过对98例献血者外周血HLA—B27的检测，建立并优化测定HLA-B27的流式细胞术，并评价B7在早期辅助临床诊断以强直性脊柱炎为代表的脊柱关节病中的应用价值。方法 分别采用EDTA和肝素钠两种不同的抗凝剂，以及加单抗不同的量(7～30μl)检测2个B27阳性和9个B27阴性个体的全血，采用EDTA抗凝和15μl的单抗剂量检测献血者外周血，探寻流式细胞术检测HLA-B27的最佳实验条件；另以微量淋巴细胞毒实验分别对2例阳性标本和9例阴性标本进行验证。结果 通过微量淋巴细胞毒和流式细胞术两种方法检测98例献血者外周HLA-B27中2例为阳性，96例为阴性，且EDTA和肝素钠两种不同的抗凝剂，以及加单抗不同的量(7～30μl)对流式细胞术检测HLA-B7无任何影响。结论 优化并建立了一种简便省时、稳定性和重复性皆好的流式细胞仪用于检测HLA-B27的方法；HLA-B27与强直性脊柱炎高度相关，HLA-B27检测已成为临床支持以强直性脊柱炎为首的脊柱关节病的诊断与鉴别诊断的重要依据，具有重要的临床意义。     

平扫CT与HRCT诊断强直性脊柱炎骶髂关节病变的对照研究

目的比较平扫CT和HRCT在强直性脊柱炎(AS)骶髂关节病变分级中的作用。方法对82例AS患者骶髂关节的平扫CT及HRCT表现进行分析。平扫CT检查使用GEHispeed型螺旋机,层厚5mm,间隔5mm。HRCT采用高分辨骨算法重建,层厚1.25mm,间隔5mm。依据纽约放射标准对病变分级,作平行对照研究,并进行统计学分析。结果对照研究表明,9个关节平扫CT可疑的病变,HRCT可以肯定诊断;22个关节平扫CT表现为早期病变(0~Ⅱ级)的患者HRCT对其分级更为准确;Ⅲ、Ⅳ级病变平扫CT和HRCT分级相仿(P>0.05)。结论HRCT对于AS骶髂关节早期病变的诊断优于平扫CT,而对于中度及重度关节炎的改变同平扫CT,诊断价值相同。     

强直性脊柱炎患者MICA基因第2、3和4外显子的多态性及其与HLA-B抗原的连锁不平衡

目的探讨皖籍汉族人群MICA基因（major histocompatibility complex class Ⅰchain-related gene A，MICA）第2、3、4外显子的多态性，及其与HLA-B抗原的连锁不平衡在强直性脊柱炎（ankylosing spondylitis，AS）发病中的作用。方法采用聚合酶链反应-序列特异性寡核苷酸探针杂交（polymerase chain reactionsequence-specific oligonucleotide probing，PCR-SS0）技术对56例AS患者和112名正常对照人群进行MICA基因第2、3、4外显子的多态性和HLA-B抗原的检测。结果AS患者和正常对照人群的MICA等位基因分布均以MICA＊008占优势，频率分别为32．14％和30．36％。两组人群MICA＊007等位基因的分布差异有统计学意义（X^2=10．18，P〈0．05，RR=2．50）。单倍型分析显示，AS患者和正常对照人群的MICA等位基因均显示出与多个HLA-B位点的连锁不平衡现象，两组间差异有统计学意义的单倍型为MICA＊007-B27（X^2=18．46，P〈0．05，RR=7．47）。分层分析结果显示，HLA-B27阳性与AS的相关性有统计学意义（P〈0．05），但MICA＊007基因与AS的相关性无统计学意义（P〉0．05）。结论AS患者中MICA＊007等位基因频率的显著升高可能源于MICA基因与HLA-B位点间的广泛连锁不平衡。     

Ankylosing spondylitis susceptibility loci defined by genome-search meta-analysis

In genome scans of ankylosing spondylitis (AS), with the exception of the HLA loci, linkage has not been easy to replicate across studies. We applied the genome-search meta-analysis (GSMA) method to genome scans of AS and spondyloarthropathy (SpA) to assess evidence for linkage across studies. Three AS genome scans and one SpA scan including 430 families with 1,048 affected individuals were used. All four original genome scans mainly analyzed Caucasian families. Seven bins had both Psumrnk and Pord<0.05, suggesting these bins most likely contain AS-linked loci; bin 6.2, 6.1, 6.3, 16.3, 19.2, 17.1, and 16.4. The GSMA produced significant genome-wide evidence for linkage on chromosome 6p22.3–6p21.1 (Psumrnk=0.000003), including the HLA locus. In addition to the HLA-B27 locus, strong linkage evidence was found on chromosome 6p25.3–6p22.3 (Psumrnk=0.0013) and 6p21.1–6p15 (Psumrnk=0.043). In the GSMA of four genome scans including one SpA study, the bin 9.4 (9q21.32–9q33.1) was newly found for linkage (Psumrnk=0.043, Pord=0.013). This GSMA added the evidence of the HLA loci as the greatest susceptibility factor to AS and showed evidences of chromosome 6, 16q, 19, 17p, and 9q as non-HLA susceptibility loci.     

HLA antigens in uveitis

HLA antigens are associated with a number of inflammatory eye diseases, most notably HLA B2 with anterior uveitis (AU). This association varies between different populations and ethnic groups. The aim of this study was to investigate the relationship between uveitis and HLA A, B and DR locus antigens in an Australian population. Seventy-two consecutive patients with uveitis were studied (37 males and 35 females) over a 6 month period. Thirty-two percent of the AU patients were HLA B27+, as were 42% of males (19% females) with their first attack of AU compared with 60% of males (23% females) with recurrent AU. The only significant difference in etiology between males and females was the greatly increased incidence of rheumatic diseases in males, in whom 77% (10/13) had radiological evidence of sacroiliitis. Additional findings included a lack of association between the HLA B7 cross reactive group and DR locus antigens in AU as well as the lack of any HLA associations in the 13 patients with posterior uveitis (PU).     

未折叠蛋白应答在强直性脊柱炎发病机制中的意义探讨

目的:通过研究强直性脊柱炎(AS)病人的外周血单个核细胞(PBMC)关节液单个核细胞(SFMC)的基因谱,了解有无支持UPR假说的转录物以及那些细胞参与未折叠蛋白应答(UPR),UPR在AS病人的变化及其在关节炎发病机制中的作用和意义。方法:AS病人的PBMCSFMC基因表达谱通过含1176基因的cDNA微阵列扫描得到,结果中比较AS与健康自愿者和RA病人有差异表达的基因C2、C3、C8、LMP2、LMP7和BiP(UPR的标志物)再以RTPCR验证。结果:AS患者的SFMC中的BiP表达显著高于RA患者SFMC组(RTPCR的均数和标准差为86.4±111.3和18.5±13.0,两者比较,P=0.044),AS和RA患者SFMC组的C2分别为91.6±36.7和18.5±3.6(两者比较,P<0.037),而且AS患者的SFMC中BiP和UPR相关的蛋白酶体C2的增高水平密切相关(相关系数r=0.9)。另外,研究还发现,AS患者SFMC过度表达BiP的细胞是单核巨噬细胞。结论:内质网UPR确实发生在AS患者SFMC中的巨噬细胞。结果显示UPR应答在AS病人关节炎症的初期和延续中起重要的作用。     

The distribution of clinical findings in Bechterew's syndrome (ankylosing spondylitis) suggests distinct genetic subgroups

One hundred and twenty-two consecutive patients hospitalized for ankylosing spondylitis (AS) were reexamined. The frequency of clinical signs and results of tests for associations are presented. Psoriasis was associated with a distal pattern of peripheral arthropathy. Spinal rigidity was predominantly seen in males. Males with phalangeal arthropathy exhibited preserved spinal mobility. This was the case also when HLA B27 positives and patients who did not have psoriasis were considered separately. HLA B27 positive patients in this group had frequently experienced acute anterior uveitis. It seems possible that the disease in such males is the result of combined predisposition to ankylosing spondylitis and psoriatic arthropathy. Hip arthropathy was frequently present in males with spinal rigidity. The associations observed confirm that AS is a heterogenous group of diseases. The term "syndrome" may be suitable for such a heterogenous group, and we prefer the term "Bechterew's syndrome" as the name of this group. When these new findings are added to the previous observations that acute anterior uveitis probably is a clinical, sex-influenced characteristic of HLA B27 positive Bechterew's syndrome, that HLA B27 negative patients with Bechterew's syndrome frequently had psoriasis and were HLA B13 and B17 negative, and that psoriasis was frequent in HLA B27 positive patients as well, we tentatively conclude that different and interacting genetic mechanisms may be involved in the etiology of Bechterew's syndrome.     

仿生双动全髋关节置换术治疗强直性脊柱炎累及髋关节病变的疗效观察

目的观察仿生双动全髋关节置换术治疗强直性脊柱炎累及髋关节病变的临床疗效,并探讨双动臼杯在脊柱僵硬患者中应用的优势。方法回顾性分析河南省洛阳正骨医院2017年2月至2019年3月行双动全髋关节置换术的21例(41髋)强直性脊柱炎患者的临床资料,其中男18例,女3例。临床随访根据X线检查、Harris评分系统及手术前后髋关节总活动度进行评价。结果21例(41髋)患者均得到随访,随访时间13~38个月,中位数为25个月,平均(25.47±6.59)个月。Harris评分由术前(40.80±10.35)分增加到术后末次随访的(87.41±10.18)分,髋关节总活动度由术前(51.87±15.71)°增加到术后的(198.53±18.83)°,差异均具有统计学意义(P<0.05)。X线检查显示所有髋关节假体位置良好,2例(3髋)出现异位骨化,所有患者均未出现关节脱位、假体松动、感染。结论双动全髋关节置换术治疗强直性脊柱炎累及髋关节病变可明显改善髋关节功能,减轻疼痛,双动臼杯高稳定性的特点,降低了 AS患者髋臼假体安放的手术技术要求,容错率较高,从而最小化脱位的风险。     

HLA antigens, psoriasis and acute anterior uveitis in Bechterew's syndrome (ankylosing spondylitis)

One hundred and twenty-two consecutively hospitalized patients with ankylosing spondylitis (AS) were reexamined. Ninety-two per cent were HLA B27 positive. Of the HLA B27 negative patients, 60% were found to have psoriasis, as opposed to 11 % of the HLA B27 positive patients. Acute anterior uveitis (AAU) was found only in HLA B27 positive patients, and more frequently in males than in females. The genetic and clinical heterogeneity of AS, together with the overlapping clinical criteria for AS and psoriatic spondylitis, may make the term "Bechterew's syndrome" preferable. Based on these findings and previous reports, we conclude that (i) AAU is a manifestation of Bechterew's syndrome in HLA B27 positive patients, (ii) HLA B27 negative patients without any obvious accompanying manifestations may suffer from psoriatic spondylitis, and (iii) genetic predisposition to psoriasis in persons who are HLA B13, B17 and B37 negative, may interact with the genetic predisposition to Bechterew's syndrome in HLA B27 positive persons and produce Bechterew's syndrome with psoriasis or psoriasis-like skin eruptions.     

Pyogenic granuloma: an unrecognized cause of gastrointestinal bleeding

Pyogenic granuloma is a lobular capillary hemangioma that mostly occurs on the skin, but it is also encountered on the mucosal surface of the oral cavity. Only a few cases in other parts of the digestive tract have been reported in Japanese patients. In this report, two Caucasian patients are described, who presented with gastrointestinal bleeding due to the presence of a pyogenic granuloma. One was located in the distal esophagus and could be treated with local excision and laser-photocoagulation therapy. The other one was located in the small intestine and was removed by surgical resection. Although extremely rare, pyogenic granuloma as a cause of gastrointestinal bleeding needs consideration. The lesion is benign, presumably reactive and can be adequately treated by excision or laser photocoagulation. Immunohistochemistry and/or polymerase chain reaction for herpesvirus 8 can reliably distinguish pyogenic granuloma from Kaposis sarcoma, an important differential diagnosis.