The role of HLA‐DQβ1 alleles in susceptibility to rheumatoid arthritis

Aim: Rheumatoid arthritis (RA) is the most common chronic inflammatory erosive joint disease with the worldwide distribution of approximately 0.5–1.0%. Etiology of RA is not exactly known but immunologic and genetic factors play an important role in the pathogenesis of the disease. Genetic factors such as human leukocyte antigens (HLA) are responsible for many autoimmune diseases; therefore we decided to look for a correlation between RA and the presence of HLA‐DQβ1 alleles as possible genetic markers. Methods: Genomic DNA from the whole blood samples of 25 patients with RA and 86 normal individuals as control group were extracted by salting out method. The genomic DNA was amplified by polymerase chain reaction‐sequence specific primer (PCR‐SSP) technique. HLA‐typing was done by this method after optimizing the PCR reaction for each allele. In this procedure seven serological subclasses of HLA‐DQβ1 can be detected. Results: Comparing the results between the patients and controls show a significant increase in the frequency of HLA‐DQ8 (*0302, *0305) alleles in RA patients. The P‐values were 0.007 and the relative risk for these alleles was evaluated higher than 1. Conclusions: The results suggest that DQ8 is the dominant HLA‐DQβ1 allele that is associated with susceptibility to RA in north‐eastern Iran.     

Acute pustulosis of the legs in diverticulitis with sigmoid stenosis: an overlap between bowel-associated dermatosis–arthritis syndrome and pustular pyoderma gangrenosum

BACKGROUND: Bowel-associated dermatosis-arthritis syndrome denotes the occurrence of diarrhoea with arthritis and skin lesions related to bowel disease with or without bowel bypass. In this condition, the histological finding of cutaneous aseptic neutrophilic cell infiltrate is non-specific and common to a wide spectrum of neutrophilic dermatoses, including pyoderma gangrenosum. OBSERVATION: We describe a 78-year-old woman with fever, abdominal discomfort and arthralgias, who developed grouped pustular lesions on her shins with histologically spongiform pustule formation. Aetiological assessment disclosed diverticular disease with sigmoid stenosis. CONCLUSION: Although clinical and histological features in our case fit the diagnosis of bowel-associated dermatosis-arthritis syndrome, they may also correspond to a pustular variant of pyoderma gangrenosum. Our observation raises the question of the nosological classification of bowel-associated dermatosis-arthritis syndrome within the spectrum of neutrophilic diseases.     

FKBP6基因278C/A单核苷酸多态性与原发无精症相关研究

目的对FKBP6基因第3、4外显子进行突变和多态性筛查,研究第3外显子278C/A位点及第2内含子C/T位点(rs7797242)在无精症患者和正常男性中的多态性,初步探讨与原发无精症的相关性。方法采用变性高效液相色谱和聚合酶链反应-限制性片段长度多态性方法,对第3、4外显子进行突变和多态性筛查,对177例无精症患者和231名正常男性的278C/A和C/T(rs7797242)多态性进行基因分型。结果278C和278A等位基因频率符合Hardy-Weinberg平衡。无精症患者278A显著低于正常对照,差异有统计学意义(P<0.05)。C/T多态性在两组中均未检出,第3、4外显子未筛查到新的变异。结论278A等位基因可能与原发无精症相关。C/T(rs7797242)及370G/A,430G/C,467T/C,468G/A在中国人群中非常罕见。     

白细胞介素-18在特发性血小板减少性紫癜中作用的研究

目的 探讨白细胞介素-18(IL-18)与特发性血小板减少性紫癜(ITP)发病的关系,研究其在ITP发病中的作用及临床意义.方法 酶联免疫吸附测定(ELISA)测定血浆IL-18,对36例ITP患者和正常对照组血浆IL-18的水平进行分析.结果 ITP组血浆IL-18含量为(538.31±111.33)pg/ml,正常对照组血浆IL-18含量为(489.44±49.07)pg/ml.IL-18含量与血小板数量呈显著性负相关(r=-0.395,P＜0.05).结论 ITP发病时患者血浆中的IL-18水平比正常对照组明显升高,IL-18与ITP发病密切相关.     

脉冲式皮下注射黄体生成素释放激素治疗男性促性腺激素缺乏症(附14例报道)

目的　观察脉冲式黄体生成素释放激素 (LHRH)皮下注射对男性促性腺激素缺乏症的治疗效果。　方法　给予知情同意的男性促性腺激素缺乏症 14例患者LHRH脉冲式腹壁皮下注射 ,每 90min 1个脉冲 (每个脉冲 10 μg) ,治疗 3～≥ 12个月。　结果　除 2例无效外 ,余 12例 (86% )有效 ,表现为青春期发育加速 ,体力增强 ,睾丸明显增大 ,阴茎增长 ,阴毛和腋毛生长。 5例有遗精现象 ,2例精液常规中有精子生成 ,所有患者在治疗期间性激素水平改善。　结论　脉冲式LHRH皮下注射是符合生理的替代治疗 ,是对男性特发性促性腺激素缺乏症可取的治疗方式。     

Subselective embolisation in management of JNA

Role of Embolisation in preoperative management of Nasopharyngeal angiofibroma is well established in present day therapeutic modalities. An improvised technique i.e., subselective embolisation has been provided by Interventional radiologists to fortify the therapeutic results. This study compares the final outcome of seven cases, four of which were embolised pre operatively. Each case was dealt with varying surgical approaches.     

Upper thoracic myelopathy caused by vertebral collapse and subluxation in rheumatoid arthritis: report of two cases

We report two cases of rheumatoid arthritis (RA) with upper thoracic myelopathy and a review of the literature. Clinical data of a 47-year-old woman (case 1) and a 54-year-old woman (case 2) are described. Case 1 showed a transverse-type myelopathy at the T2 segment level of the spinal cord and case 2 had the same type of myelopathy at the T4 segment level. Case 1 had anterior vertebral subluxation of C7 due to marked vertebral collapse and Case 2 had subluxation of T2 with vertebral destruction. These two patients had the mutilating type of RA with multilevel spontaneous fusion in the cervical spine. The lesions in the thoracic spine might be caused by the severe destructive inflammation that is characteristic in mutilating disease. The vertebral collapse might lead to subluxation of the upper thoracic vertebra, resulting in spinal cord compression. Upper thoracic subluxation might be caused by vertebral collapse due to RA and the increased motion as a compensation for decreased mobility caused by spontaneous fusion in the cervical spine.     

激光穴位点射疗法对痛风急性期的疗效观察

目的:观察500MW激光风湿治疗机穴位点射治疗痛风急性期的疗效,探讨其作用原理。方法:痛风急性期患者48例,随机分为激光组和对照组,每组24例。激光组用输出波长为810 NM,功率为500 MW激光风湿治疗机,通过穴位点射方法治疗。对照组口服非甾体类消炎药。疗程均为3~7 d,观察患者关节疼痛肿胀情况及不良反应表现。结果:激光组疗效优于对照组,且毒副作用明显小于对照组。结论:激光穴位点射治疗对痛风急性期有良好的治疗作用,且无明显不良反应,患者依从性好。     

特发性脊髓萎缩症（附9例分析）

目的:探讨脊髓萎缩症的临床表现及磁共振成像(MRI)特征。方法:对9例脊髓萎缩症患者的临床表现及MRI检查资料进行回顾性分析。结果:颈、胸髓萎缩2例,胸髓萎缩7例,均表现为慢性起病,进行性加重的脊髓病变症状;痉挛性截瘫9例,感觉障碍5例,下肢腱反射活跃、亢进9例,病理征阳性7例,括约肌功能障碍3例;肌电图提示神经源性损害,MRI显示脊髓萎缩性改变9例;脊髓矢状径分别为3～5.5mm,脊髓矢状径与脊蛛网膜下隙矢状径比值<0.5。结论:脊髓萎缩症系脊髓慢性变性疾病,结合临床特征及MRI改变可作出较明确诊断。