Adult-onset Still's disease—pathogenesis,clinical manifestations,and new treatment options

Abstract

Adult-onset Still's disease (AOSD), a systemic inflammatory disorder, is often considered a part of the spectrum of the better-known systemic-onset juvenile idiopathic arthritis, with later age onset. The diagnosis is primarily clinical and necessitates the exclusion of a wide range of mimicking disorders. AOSD is a heterogeneous entity, usually presenting with high fever, arthralgia, skin rash, lymphadenopathy, and hepatosplenomegaly accompanied by systemic manifestations. The diagnosis is clinical and empirical, where patients are required to meet inclusion and exclusion criteria with negative immunoserological results. There are no clear-cut diagnostic radiological or laboratory signs. Complications of AOSD include transient pulmonary hypertension, macrophage activation syndrome, diffuse alveolar hemorrhage, thrombotic thrombocytopenic purpura and amyloidosis. Common laboratory abnormalities include neutrophilic leukocytosis, abnormal liver function tests, and elevated acute-phase reactants (ESR, CRP, ferritin). Treatment consists of anti-inflammatory medications. Non-steroidal anti-inflammatory drugs have limited efficacy, and corticosteroid therapy and disease-modifying anti-rheumatic drugs are usually required.

Recent advances have revealed a pivotal role of proinflammatory cytokines such as tumor necrosis factor-α (TNF-α), interleukin (IL)-1, IL-6, IL-8, and IL-18 in disease pathogenesis, giving rise to the development of novel targeted therapies aiming at optimal disease control.

The review aims to summarize recent advances in pathophysiology and potential therapeutic strategies in AOSD.     

藏药桃儿七HPLC指纹图谱产地识别及质量评价

目的： 建立藏药桃儿七的HPLC指纹图谱,比较不同产地桃儿七成分含量差异,进行产地识别,综合评价桃儿七质量。方法： 采用HPLC,Agilent Zorbax SB C₁₈柱（4.6 mm×250 mm,5μm）,乙腈-0.04%甲酸水为流动相梯度洗脱,流速1.0 mL·min^-1,柱温30℃,对16批桃儿七样品进行指纹图谱测定,并使用主成分分析和聚类分析对指纹图谱进行产地识别和质量评价。结果： 建立了桃儿七药材指纹图谱;对16批样品相似度比较,标定了29个共有峰;各产地样品成分组成基本相同,但是含量存在一定差异;对各样品进行化学模式识别,根据主成分得分,产自西藏的药材质量最好。结论： 该方法能够用于桃儿七药材综合评价及质量控制。     

川黄柏和关黄柏全球产地生态适宜性分析

目的:黄柏是中国传统大宗中药材,"三木药材"之一,国家二级保护植物,是退耕还林、天然林保护工程和荒山造林的优良树种,具有较高的经济和生态价值。根据物种和产地不同,黄柏分为"川黄柏"和"关黄柏",通过产地适宜性研究分析其潜在的适宜分布区,为正确选择物种及栽培区域提供科学依据。方法:收集全球道地产区、主产区、野生分布区样点生态信息,其中川黄柏364个样点,关黄柏247个样点,采用《药用植物全球产地生态适宜性信息系统》(GMPGIS)分析其全球适宜生长区域。结果:川黄柏和关黄柏全球适宜分布区域有明显分界,川黄柏主要分布于亚热带季风气候区,在亚洲、欧洲、北美洲、南美洲、大洋洲均有一定面积的最大生态相似度区域,包括中国、美国、法国、巴西、日本、意大利、新西兰等65个国家和地区。关黄柏主要分布于温带季风气候区,在亚洲、欧洲、北美洲有一定的生态相似度区域,包括美国、中国、俄罗斯、加拿大等30个国家和地区。结论:GMPGIS分析结果能为黄柏引种时选择正确的基原物种和栽培区域提供科学依据。     

Fever of unknown origin in a Mediterranean survey from a division of internal medicine: report of 91 cases during a 12-year-period (1991–2002)

Despite the availability of all advanced diagnostic tools, fever of unknown origin (FUO) remains a diagnostic challenge for physicians. The objective was to define, through a retrospective study, the categories of the diseases of Sicilian patients admitted at the Department of Clinical Medicine and Emerging Diseases, University of Palermo, Italy, for classical FUO. Using the registration system for patients admitted from 1991 to 2002, 508 charts of patients admitted because of fever were reviewed. Of these, only 91 patients fulfilled the criteria for classical FUO. The origin of FUO was diagnosed in 62 (68.1%) patients. Infection was the most common cause of FUO with 29 cases (31.8% of total of FUO), neoplasms accounted for 13 cases (14.2%), collagen vascular disease for 11 cases (12.0%), and miscellaneous for 9 cases (9.8%). Undiagnosed FUO were 29 (31.8%) and, of them, 22 cases were followed-up for 2 years. A definite diagnosis could be established only in 8 cases, 13 subjects completely recovered and 4 of them died. In the 73.4% of cases, the FUO have been the result of misleading factors in the diagnostic approaches as made by the physician. The results of our study are similar to those already reported by other authors in other populations, with infections as first, neoplasm as second, and collagen vascular diseases as third most important causes of FUO. In our study the prognosis for undiagnosed FUO cases was good, but a definite diagnosis could be established only in few cases. Therefore, further multicentric, prospective studies of good design are required.     

Pulmonary artery origin of the left coronary artery: diagnosis by transoesophageal echocardiography in infancy

In two infants the anomalous origin of the left coronary arteryfrom the pulmonary artery (ALCAPA) was detected prospectivelyby transoesophageal echocardiography (TEE). Colour flow mappingand pulsed Doppler ultrasound revealed a predominant right-to-leftshunt from the pulmonary artery to the left coronary artery.These findings were confirmed by angiography. Transihoracic echocardiography (TTE)failed to show the anomalousorigin of the left coronary artery or any abnormal pulmonaryflow pattern. TEE may be useful in the diagnosis of ALCAPA in selected cases,when TTE is inconclusive.     

长沙市2009～2013年肺炎/不明原因肺炎病例监测

目的分析2009~2013年长沙市不明原因肺炎病例监测结果,为制定长沙市SARS和人禽流感防制策略提供科学依据。方法 2009~2013年每月收集全市48家县级及以上医疗机构住院部上月住院总人次数、发热肺炎病例总数、重症肺炎病例总数、因重症肺炎死亡人数、不明原因肺炎病例总数,对数据利用EXCEL及SPSS进行统计分析。结果 2009~2013年长沙市未报告不明原因肺炎病例,发热肺炎病例占总住院人数的比例介于3.37%~7.87%之间,发热肺炎病例中发生重症病例的比例介于4.44%~18.03%之间,每年9月至来年4月发热肺炎及重症肺炎发病较高;重症肺炎住院病例病死率介于1.29%~17.65%之间,每年1~4月和7~9月重症肺炎住院病例病死率较高。结论发热肺炎和重症肺炎住院病例月分布表现出冬春季发病高峰的特点,重症肺炎病例死亡情况月分布呈现秋春双高峰的特点。长沙市发热肺炎病例中儿童发病比例高,而发展为重症的比例较低,病死率低。     

224例不明原因发热患者病因分析

目的了解某院不明原因发热(FUO)患者病因,及其明确诊断的方法,为临床诊断和治疗FUO提供参考。方法应用血清学、细菌学、分子生物学、骨髓穿刺、组织活检,以及诊断性治疗等方法,对该院2008年1月—2014年7月收治的FUO住院患者进行临床诊断,回顾性分析224例FUO患者病因和最终诊断。结果最终明确病因者189例,占84.38%;未明确者35例,占15.62%。其中感染性疾病、结缔组织病、恶性肿瘤、其他类疾病分别占50.45%、18.75%、9.82%、5.36%。在感染性疾病中,细菌为主要病原体,其次为病毒;结缔组织病以系统性红斑狼疮和结节性多动脉炎为主;恶性肿瘤以血液系统肿瘤为主,而淋巴瘤最常见。189例确诊患者采用病原学检查者占30.16%,病理学检查者占24.34%,其他方法(综合分析)占20.11%。结论感染性疾病、结缔组织病、肿瘤为FUO的主要病因。     

An uncommon cause of fever in the elderly: late-onset systemic lupus erythematosus

Infections, tumors and multisystem disease are common causes of fever of unknown origin (FUO) in the elderly. Late-onset systemic lupus erythematosus (LO-SLE) is a very rare cause of FUO in elderly patients. Serositis and musculoskeletal manifestations are common, but fever as an initial manifestation in LO-SLE is rare. We present two patients with LO-SLE who manifested fever as an initial symptom. Fever was the only symptom for 2 months in the first case and for 3 months in the second. In conclusion, in geriatric patients who have fever, LO-SLE should be considered in the differential diagnosis.Abbreviations ANA Antinuclear antibody - ESR Erythrocyte sedimentation rate - HBV Hepatitis B - HCV Hepatitis C - CMV Cytomegalovirus - FUO Fever of unknown origin - HIV Human immunodeficiency virus - LO-SLE Late-onset systemic lupus erythematosus - RF Rheumatoid factor     

Celtic Origin of the C282Y Mutation of Hemochromatosis

ABSTRACT: The C282Y mutation in theHFEgene is the main mutation causing hemochromatosis, and C282Y frequencies have been reported for various European populations. The aim of this review is to compile the Y allele frequencies of the C282Y mutation for twenty European populations. The most elevated value (6.88%) is observed in residual Celtic populations in UK and France, in accordance to the hypothesis of Simon et al. concerning a Celtic origin of the hereditary hemochromatosis mutation.