Childhood- versus Adult-Onset Polyarteritis Nodosa Results from the French Vasculitis Study Group Registry

Objective

To investigate differences between childhood (cPAN)- and adult-onset polyarteritis nodosa (aPAN) patients.

HLA-DR in Brazilian Patients with Polyarteritis Nodosa (PAN) and Microscopic Polyangiitis (MPA)

The aim of this study was to evaluate the frequency and clinical associations of HLA-DR alleles in Brazilian Caucasian patients with polyarteritis nodosa (PAN) or microscopic polyangiitis (MPA). We evaluated 29 Caucasian patients with vasculitis classified as PAN or MPA according to the American College of Rheumatology (ACR) 1990 Criteria, Chapel Hill Consensus Conference (CHCC) nomenclature for vasculitis and EULAR recommendations for conducting clinical studies in systemic vasculitis. HLA-DR alleles were typed using polymerase chain reaction-amplified DNA, hybridized with sequence-specific low resolution primers. DNA obtained from 59 Caucasian healthy blood donors were used as control. In order to evaluate if a specific HLA may have influence on the clinical profile of those diseases, we also divided the patients according to Birmingham vasculitis score (BVAS) and Five-Factors Score (FFS) at the time of diagnosis. Increased frequency of HLA-DRB1*16 (p = 0.023) and DRB4*01 (p = 0.048) was found in patients with higher disease activity at the time of diagnosis (BVAS ≥ 22). Patients with less severe disease (FFS = 0) had a higher frequency of HLA-DRB1*03 (p = 0.011). Patients with gastrointestinal tract involvement had significantly increased frequency of HLA-DRB1*11 or B1*12 (p = 0.046), B1*13 (p = 0.021) and B3 (p = 0.008). In contrast, patients with renal disease, had higher frequency of DRB1*15 or DRB1*16 (p = 0.035) and B5 (p = 0.035). In the subgroup of patients with MPA, increased frequency of HLA-DRB1*15 was found in patients with BVAS ≥ 22 (p = 0.038) and FFS ≥ 1 (p = 0.039) suggesting that this allele is associated with more aggressive disease. Antineutrophil cytoplasmic antibodies (ANCA) negative MPA patients had significantly increased frequency of HLA-DRB1*11 or DRB1*12 when compared to ANCA positive patients (p = 0.023). Our results suggest that HLA-DR alleles may influence PAN and MPA clinical expression and outcome and that in MPA they participate in the mechanisms involved in the development to ANCA.     

Isolated polyarteritis nodosa of the male reproductive system associated with a germ cell tumor of the testis: a case report

Polyarteritis nodosa (PAN) presents mostly as a systemic disease with poor prognosis, rarely in an isolated form with a usually favorable outcome. Both forms may affect the male reproductive system and both forms have been associated with malignancies. We describe for the first time the occurrence of isolated PAN in the reproductive system combined with a mixed germ cell tumor of the testis in a 21-year-old man presenting with symptoms of chronic epididymitis. Two years after surgery he is without evidence of recurrence of either the tumor or PAN.     

丹桃冲剂对结节性红斑患者血液流变性的影响

目的探讨丹桃冲剂对结节性红斑患者血流变的影响。方法24例结节性红斑患者在传统方法治疗的同时 ,辅以丹桃冲剂 ,观察治疗前后血流变的变化 ,并与对照组和正常标准比较。结果治疗组疗效优于对照组。两组结节性红斑患者各项血流变指标治疗前均高于正常 ,治疗后治疗组各项血流变指标均有所恢复或接近正常 ,而对照组也有所恢复 ,但仍有部分指标高于正常 ,与治疗组治疗后和正常标准比较均有显著性差异。结论丹桃冲剂能改善结节性红斑患者血流变的同时使患者的疗效更佳     

Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series

Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic inflammatory disease, caused by mutations in ADA2 gene, which encodes an extracellular enzyme acting as a monocyte differentiation factor. DADA2 is first described with the clinical picture resembling polyarteritis nodosa, including livedo racemose, recurrent fever, musculoskeletal complaints. Besides, some patients have cytopenia, lymphoproliferation and mild to moderate immunodeficiency. The most crucial complication of DADA2 is neurological involvement, especially arterial stroke, which necessitates continuous treatment with anti-tumor necrosis factor α (anti-TNFα) treatment for preventing further stroke attacks.Herein, we report 5 DADA2 patients from 5 unrelated families, all had G47R mutation in at least one allele. All patients had livedo racemose, and 4 patients suffered from recurrent fever. Besides, musculoskeletal complaints and gastrointestinal symptoms were present in 4 and 3 patients, respectively. One patient had chronic arthritis and only one patient had a history of recurrent stroke without any sequela. Hematological and immunological involvement occurred in 3 and 4 patients, respectively, whereas only one had significant panhypogammaglobulinemia, requiring replacement therapy. We started etanercept treatment to all patients, which resulted the complete resolution of systemic inflammatory attacks and skin lesions and provided neurologically symptom free during their follow-up. With this report, we emphasize the importance of early referral of the patients with suspected livedo racemose to avoid the delay of DADA2 diagnosis for favorable outcome.     

语义性痴呆:一例汉语病人的个案研究

目的：分析一例语义性痴呆(Semantic Dementia，SD)患者的神经心理特征。方法：针对一例大学文化程度的SD患者完成一系列神经心理测验和头颅核磁共振(MRI)及氙CT(XeCT)检查。结果：1．语义记忆的选择性损害引起严重的失命名、对口语和书写的词语理解受损、言语流畅性测验表现差以及一般知识的储存丧失；2．语言表达和理解的其他成分相对保持；空间知觉、执行功能和非言语的解决问题能力正常；情景记忆相对保存；3．阅读障碍呈表层失读模式；4．MRI和XeCT提示患者左颞叶新皮层呈现局限性严重萎缩。结论：汉语文化背景的SD患者的认知特征与西方的结果相似，左颞叶新皮层萎缩导致选择性的语义记忆损害。     

Isolated vasculitis of the female genital tract: a case series and review of literature

To provide a clinicopathologic review of vasculitis confined to the female genital tract, we describe three cases, and we searched PubMed from 1965 to 2006 with analysis of all relevant articles. We identified 118 additional cases in the literature of whom 108 had isolated necrotizing vasculitis similar to classical polyarteritis nodosa (PAN-type), and 10 presented isolated giant cell arteritis (GCA-type) of the female genital tract. In most cases, arteritis was discovered surprisingly. The mean age of these patients was 48.6 years for the PAN-type and 64.1 for the GCA-type. Vasculitis affected a single organ in 88 (81.5%) cases of which 71 (65.7%) involved the cervix in the PAN-type, whereas it was limited in the myometrium in five (50%) cases in the GCA-type. There was no progression to a systemic vasculitis in 99.1% of the cases. A comparable favorable outcome was reported after surgery in all cases with a mean follow-up of 40.8 months. We conclude that isolated vasculitis of the female genital tract is a distinct condition, with two different patterns but a similar favorable outcome after resection. Its knowledge is needed to avoid aggressive evaluation and therapy.     

TACE联合放射性125I粒子瘤内植入治疗肝癌

目的探讨经肝动脉灌注栓塞术(TACE)联合CT导向下放射性125I粒子瘤内植入治疗肝癌的疗效。方法回顾性分析75例确诊为原发性肝癌的患者,A组41例(单纯TACE组),B组34例(TACE序贯125I粒子植入术组),两组均于术后第3、6、12个月行CT扫描进行疗效评价,分别比较两组术后6个月、12个月的生存状态。两组有效率及生存状态比较均采用卡方检验,以P<0.05为差异有统计学意义。结果术后3个月,A、B组的总体有效率(CR+PR)分别为36.6%(15/41)、70.6%(24/34),差异有统计学意义(P=0.005);B组术后6个月、1年生存率分别为97.1%(33/34)、85.3%(29/34),明显高于A组的73.2%(30/41)、41.5%(17/41)(P<0.01)。结论 TACE联合CT导向下放射性125I粒子瘤内植入是治疗肝癌的安全有效的方法,具有良好的应用前景。     

NO在肝纤维化形成中对肝脏微循环的影响

目的探讨外源性一氧化氮(nitric oxide,NO)对肝脏微循环障碍的影响和在肝纤维化发生发展中的作用.方法将大鼠分为3组:正常对照组(normal control,NC):以正常饮食喂养;采用复合因素致肝纤维化组(hepaticfibrosis,HF):同时用生理盐水1.5ml·只-1·d-1灌胃;HF Arg组:以肝纤维化对照组为基础,同时予L-精氨酸(L-arginine,L-Arg)100mg·Kg-1·d-1灌胃.于实验4周末,观察血浆内毒素(lipopolysaccaride,LPS)、NO、丙二醛(malondialdehyde,MDA)和超氧化物歧化酶(superoxide dismutase,SOD)水平,观察各组肝组织纤维增生程度,用台盼蓝原位灌流肝脏来观察肝脏微循环的改变.结果血浆内毒素水平在HF组均明显高于NC组,HF Arg组内毒素水平虽比NC组高,但差异无显著性;NO水平HF Arg组明显高于HF组;血浆MDA水平各实验组均明显高于NC组;血浆SOD活性HF组明显低于NC组和HF Arg组;肝脏纤维组织目标面积HF组明显大于HF Arg组;用台盼蓝原位灌流肝脏发现HF组灌流时间最长,HF Arg组与NC组比较差异无显著性.结论外源性NO可能通过改善肝脏微循环,防止肝脏缺血和炎性细胞介质诱导的氧化损伤,延缓肝纤维化的发展.     

脊肌萎缩症研究进展

脊肌萎缩症是一组常见的引起婴幼儿死亡的遗传病, 因为缺乏治疗手段,该病研究曾不受重视。自1995年确定脊肌萎缩症致病基因是一种看家基因---运动神经元生存基因（SMN1）以来,围绕在这种疾病背后的谜团吸引了多国学者的兴趣,成为近年遗传病研究的一个热点,本文就脊肌萎缩症遗传基础,SMN蛋白生物功能,脊肌萎缩症携带者检测及治疗方面新策略等内容做一综述。     

改良Pringle肝血流阻断法在肝癌切除术中的应用

目的：探讨改良Pringle法阻断人肝血流行肝切除术治疗肝癌合并肝硬化的效果。方法：回顾分析32例原发性肝癌合并肝硬化患采用改良Pringle法阻断人肝血流行肝癌切除的病例资料。结果：32例肿瘤均获完整切除，术后恢复良好。结论：肝叶切除时采用改良Pringle人肝血流阻断技术简便、安全，特别适用于原发性肝癌合并肝硬化患。     

多排螺旋CT诊断肝血管瘤及肝脏肿瘤的临床价值分析

目的 分析多排螺旋CT诊断肝血管瘤及肝脏肿瘤的临床价值。方法 选取2015年11月~2017年12月我院收治的肝血管瘤及肝脏肿瘤患者96例,根据疾病种类分为PHC组、ML组和LH组,每组32例。对所有患者的肝脏采用灌注CT型诊断监测,对比三组占位性病灶实质位置、周围实质位置以及健康肝脏实质位置灌注参数（HBF、HBV、MTT、PS、HAF）。结果 ①占位性病灶实质位置:PHC组的HBF和HAF均大于其他两组（P＜0.05）,PHC组和LH组的HBV均大于ML组（P＜0.05）,PHC组MTT小于其他两组（P＜0.05）;三组PS比较,差异无统计学意义（P＞0.05）。②占位性病灶周围实质位置:HC组和ML组的HBF大于LH组,PHC组和ML组的HAF小于LH组,P＜0.05;ML组的PS大于其他两组（P＜0.05）;三组HBV和MTT比较,差异无统计学意义（P＞0.05）。③健康肝脏实质位置:PHC组MTT小于其他两组（P＜0.05）;PHC组HAF大于其他两组（P＜0.05）;三组HBV、PS、HBF比较,差异无统计学意义（P＞0.05）。结论 采用CT灌注成像获得的参数能够很好地对LH与肝脏肿瘤进行监测与诊断     

血清肝纤维化指标在各型肝病诊断中的应用

探讨联合检测层粘连蛋白（LN）、IV型胶原（C IV）、血清透明质酸（HA）和Ⅲ型前胶原（PCⅢ）在肝纤维化诊断中的应用价值。采用放射免疫分析法检测143例肝病患者的LN、C IV、HA、PCⅢ,同时与41名健康体检者进行比较。结果显示：各组肝病患者血清肝纤维化指标均高于正常对照组（P〈0.01）,且与慢性肝炎病情严重程度密切相关,在慢性肝炎重度组和肝硬化组中表达最高,以HA、PCⅢ升高最为显著。结论：血清LN、C IV、HA、PCⅢ联合检测可明显提高肝纤维化诊断的准确性和可靠性,对诊断肝纤维化有较高的临床价值,但不能用于慢性肝炎重度和肝硬化的鉴别诊断。     

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

In this study, we described the identification of a large DNAJB2 (HSJ1) deletion in a family with recessive spinal muscular atrophy and Parkinsonism. After performing homozygosity mapping and whole genome sequencing, we identified a 3.8 kb deletion, spanning the entire DnaJ domain of the HSJ1 protein, as the disease‐segregating mutation. By performing functional assays, we showed that HSJ1b‐related DnaJ domain deletion leads to loss of HSJ1b mRNA and protein levels, increased HSJ1a mRNA and protein expressions, increased cell death, protein aggregation, and enhanced autophagy. Given the role of HSJ1 proteins in the degradation of misfolded proteins, we speculated that enhanced autophagy might be promoted by the elevated HSJ1a expression seen in HSJ1b‐deficient cells. We also observed a significant reduction in both tau and brain‐derived neurotrophic factor levels, which may explain the dopaminergic deficits seen in one of the affected siblings. We concluded that HSJ1b deficiency leads to a complex neurological phenotype, possibly due to the accumulation of misfolded proteins, caused by the lack of the DnaJ domain activity. We thus expand the phenotypic and genotypic spectrums associated with DNAJB2 disease and suggest relevant disease‐associated mechanisms.     

肝病患者血清学指标与肝纤维化程度的关系

研究不同病因导致的肝病患者血清学指标与肝组织纤维化程度的关系。测定114例不同病因肝病患者的血清丙氨酸氨基转移酶（ALT）、天冬氨酸氨基转移酶（AST）、碱性磷酸酶（ALP）、γ-谷氨酰转肽酶（GGT）、总胆红素（TBIL）、白蛋白（ALB）、球蛋白（GLO）、血小板（PLT）、凝血酶原时间（PT）、血清Ⅲ型前胶原（PⅢNP）、透明质酸（HA）、层粘连蛋白（LN）、Ⅳ型胶原（Ⅳ-C）,同时行肝穿刺活组织检查,进行纤维化分期,分析血清学指标与肝纤维化分期的关系。结果显示,血清ALB、GLO、PLT、PT、PⅢN P、HA、Ⅳ-C在不同肝纤维化分期中有统计学差异,而且PLT与ALB与肝纤维化程度呈负相关,PT和GLO与肝纤维化时间呈正相关,血清PⅢN P,HA,Ⅳ-C水平与肝纤维化程度呈正相关。结论：在常用的血清学指标中,血清ALB、GLO、PT、PLT、PⅢNP、HA、Ⅳ-C与肝纤维化的进展有关。PT及PLT在诊断肝硬化时有指导意义,对肝纤维化分期的判断上有一定意义但是价值有限。不论何种病因,血清PⅢNP、HA、Ⅳ-C更能反映肝纤维化的进程。     

新型双光子荧光染料DMAHAS在人-鼠肝癌模型中的应用

研究一种新型双光子荧光素（DMAHAS）对人肝癌HepG2细胞的毒性及肿瘤细胞标记后的体内示踪。体外细胞毒性分析采用MTT、中性红（NR）、考马斯亮蓝（CB）和流式细胞术（FCM）等方法。DMAHAS标记肿瘤细胞的体内示踪在人肝癌模型中进行,切除的肿瘤异种移植物经荧光成像和传统的组织病理分析。此外,我们建立了一种基于DMAHAS释放的细胞毒性分析方法。研究结果表明DMAHAS对HepG2细胞无明显毒性,它显示出对活细胞很高的穿透性和稳定的细胞质定位。体内细胞示踪实验表明它是一种用于肿瘤示踪和荧光成像的可靠探针。     

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

Purpose

Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients.

Materials and Methods

In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients.

Results

The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlation with the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression.

Conclusion

As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation between the age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.     

左额叶CT值在偏执型精神分裂症患者中的变化及临床意义

目的:探讨左额叶CT值在偏执型精神分裂症患者中的变化及临床意义。方法:选取2014年6月—2016年6月于我院就诊的偏执型首发精神分裂症患者共120例作为观察组,取120例正常的头部CT患者作为正常组,测量其脑部CT图像上大脑左侧额叶CT值,分析偏执型精神分裂症患者患者大脑左侧额叶CT值与临床资料的关系。结果:观察组患者的平均左额叶CT值低于正常组(t=17.286,P0.05),PANSS评分阴性症状的CT值与阳性症状的CT值差异无统计学意义(t=0.309,P=0.758),不同的教育程度和是否具有职业的患者的CT值比较差异无统计学意义。左额叶CT值与PANSS评分呈负相关(r=-0.455,P=0.024),左额叶CT值与病程时间分评分呈负相关(r=-0.406,P=0.035)。结论:偏执型精神分裂症患者的左侧额叶CT值显著降低,与精神分裂症状的程度和病程时间呈负相关,左侧额叶CT值降低是偏执型精神分裂症的重要影像依据。     

Clinical and Virological Characteristics of Chronic Hepatitis B Patients with Hepatic Steatosis

Objective: This study aimed to explore clinical and virological characteristics of chronic hepatitis B (CHB) patients with hepatic steatosis in order to provide a theoretical basis for the prevention and control of hepatic steatosis.Methods: A total of 360 CHB inpatients were recruited from Affiliated Dongnan Hospital of Xiamen University and divided into hepatic steatosis group and non- hepatic steatosis group. The body mass index (BMI), waist-to-hip ratio (WHR), fasting blood glucose (FBG), triglyceride (TG), total cholesterol (TC), aminotransferase (AST), alanine aminotransferase (ALT), gamma-glutamyl transpeptidase (GGT), hepatitis B e antigen (HBeAg), hepatitis B virus DNA (HBV DNA) and hepatic histological changes were detected and compared between the two groups. The association of these factors with hepatic steatosis was evaluated in CHB patients.Results: BMI, FPG, TG, TC, GGT, AST and HBV DNA showed statistically significant differences between two groups (P<0.01). The patients with hepatic steatosis had markedly higher BMI, FBG, TG and TC than those without steatosis did. No significant differences were found in ALT and HBeAg between two groups (P>0.05). In male patients, there was marked difference in the WHR between two groups (P < 0.01), which was not found in female patients (P > 0.05). The severity of hepatic steatosis increased in patients with hepatic steatosis, compared to those without steatosis (P < 0. 01), but the severities of inflammation and fibrosis in the non-hepatic steatosis group were dramatically higher than those in the hepatic steatosis group (P < 0. 01).Conclusions: BMI, WHR, FBG, TG and TC appeared to be influencing factors of CHB combined with hepatic steatosis. Hepatic steatosis in CHB patients was closely related to changes in anthropometric indices and metabolic factors but not HBV. It is necessary to improve these factors to effectively prevent hepatic steatosis in CHB patients.