BACKGROUND Adult-onset still disease(AOSD) and hemophagocytic syndrome(HPS) are two inflammatory diseases with very similar clinical manifestations. HPS is one of the most serious complications of AOSD and its risk of...BACKGROUND Adult-onset still disease(AOSD) and hemophagocytic syndrome(HPS) are two inflammatory diseases with very similar clinical manifestations. HPS is one of the most serious complications of AOSD and its risk of death is very high. It is difficult to identify HPS early in patients with AOSD, but early identification and proper treatment directly affects the prognosis.CASE SUMMARY A 39-year-old male showed a high spiking fever and myalgia. Laboratory data revealed elevated white blood cell, serum ferritin, and neutrophil percentage.However, his fever failed to relieve after a clear diagnosis of AOSD caused by pulmonary infection and treatment by antibiotics and corticosteroids;further laboratory data showed elevated serum ferritin, C-reactive protein, erythrocyte sedimentation rate and triglyceride, as well as liver abnormalities. Bone marrow smear showed hemophagocytosis. Secondary HPS was definitely diagnosed. The high fever disappeared and the laboratory findings returned to normal values after treatment by high-dose intravenous methylprednisolone and methotrexate.CONCLUSION For AOSD patients with high suspicion of HPS, active examination needs to be considered for early diagnosis, and timely using of adequate amount of corticosteroids is the key to reducing risk of HPS death.展开更多
The adult onset Still’s disease is a rare affection characterised by occurrence of fever, arthralgia or arthritis and evanescent cutaneous eruption. Multiple other systemic lesions make the diagnosis more difficult. ...The adult onset Still’s disease is a rare affection characterised by occurrence of fever, arthralgia or arthritis and evanescent cutaneous eruption. Multiple other systemic lesions make the diagnosis more difficult. Several diagnostic criteria were formulated to confirm this disease. The physiopathology of the adult onset Still’s disease is not well elucidated. However, several studies based on new facts in physiopathology, improved the therapy of refractory forms for which the biotherapy was an interesting alternative. The TNF alpha receptor antagonists are efficient on systemic and articular manifestations of this disease and allow a corticosteroid’s saving. Tocilizumab (interleukin 6 receptor antagonist), and Anakinra (interleukin 1 receptor antagonist) are also new promising treatments for resistant forms.展开更多
The adult onset Still’s disease is a rare inflammatory pathology of unknown pathogeny. The clinical features are variable. The diagnosis is difficult since exclusion of infectious, systemic and tumoral pathologies sh...The adult onset Still’s disease is a rare inflammatory pathology of unknown pathogeny. The clinical features are variable. The diagnosis is difficult since exclusion of infectious, systemic and tumoral pathologies should be done. The articular complications are frequent and can be revelatory of this pathology. The articular prognosis depends on the diagnosis delay and the treatment efficiency. Our study aims to analyze different aspects of articular manifestations complicating adult onset Still’s disease to define epidemiological, clinical and evolving characteristics of these complications. It was a cross-sectional study concerning 20 cases of adult onset Still’s disease diagnosed from 1990 to 2015 in the internal medicine A department of Charles Nicolle Hospital in Tunis, meeting Yamaguchi criteria. We identified clinical, radiological, evolving and therapeutic profile of the articular manifestations occurred in these patients. There were 13 women and 7 men. The average age was 25 years. The arthralgias were reported in all cases;while, the arthritis interested fifteen patients. A hand deformation was found in four patients. A wrist ankylosis was noted in one case and a flexion elbow in one patient. The standard articular radiographs were normal in twelve cases. The treatment associated essentially non-steroidal anti-inflammatory and/or corticosteroids and/or methotrexate. Concerning the evolving profile, the monocyclic form was present in 25% of the cases, the intermittent form in 45% and the chronic articular form in 30% of our patients. The adult onset Still’s disease is rare and heterogeneous. The articular disturbances are frequent and have various outcomes.展开更多
Introduction: Systemic diseases have been the subject of few studies in the African literature and have probably been under-estimated. The objective of our study was to specify their spectrum, their epidemiological as...Introduction: Systemic diseases have been the subject of few studies in the African literature and have probably been under-estimated. The objective of our study was to specify their spectrum, their epidemiological aspects and diagnostic delay in Internal Medicine Departments of Dakar (Senegal). Material and Method: It was a multicentric retrospective and descriptive study regarding all systemic diseases during 119 months from 1st January 2005 to 30 November 2014 in 5 hospital centers down Dakar. Systemic diseases were retained according to their international consensus criteria. Results: During the studying period, 726 patients were included with 632 women and 94 men (sex ratio of 0.14). The average age was 43.76 years. Inflammatory rheumatoid family history was noted in 10.06% of cases. Rheumatoid arthritis (RA) was the predominant affection, recorded on 564 patients, isolated or associated with other systemic diseases. It was followed in a decreasing order, in the systemic auto-immune diseases sub-groupe, by systemic lupus (56 cases), Sj?gren’s syndrome (32 cases), Systemic Sclerosis (26 cases), Idiopathic inflammatory myopathies (21 cases), Undifferentiated connective tissue diseases (20 cases), Anti Phospholipid’s syndrome (6 cases) and Mixed connective tissue disease (6 cases). A diagnosis of systemic vasculitis was recorded in 19 patients. The other systemic affections were represented by systemic sarcoidosis (8 cases), Adult-onset Still’s disease (03 cases), amyloidosis (02 cases) and 02 cases of systemic syndrome associated to immunodeficiency. The mean diagnostic delay duration before the diagnostic was 3.46 years. Conclusion: Systemic diseases in internal medicine are characterized by their diversity, the clear predominance of RA, and significant diagnostic delay.展开更多
成人发病的白质脑病合并轴索球样变和色素性胶质细胞(adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,ALSP)是临床罕见的常染色体显性遗传病,其具体的发病机制目前还未明确。集落刺激因子1受体(colony-stim...成人发病的白质脑病合并轴索球样变和色素性胶质细胞(adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,ALSP)是临床罕见的常染色体显性遗传病,其具体的发病机制目前还未明确。集落刺激因子1受体(colony-stimulating factor 1 receptor,CSF1R)是一种细胞表面跨膜酪氨酸激酶受体,与其相关的编码基因突变已被证实是ALSP的潜在致病因素。然而,目前关于CSF1R基因突变致使ALSP发病的具体机制尚不清楚。本文回顾CSF1R基因在ALSP发病过程中的突变位点及致病机制研究,发现CSF1R突变可以通过显性负性效应、功能丧失、单倍体剂量不足及功能获得等机制导致小胶质细胞功能异常,进而引起ALSP的发病。对ALSP病因的深入认识有助于更好地探索潜在的治疗方法。展开更多
目的总结成人Still病(adult-onset Still disease,AOSD)病理形态特征、诊断及鉴别诊断,避免误诊误治。方法回顾分析3例AOSD淋巴结病理形态学特征、免疫表型、分子检测结果。结果病例1淋巴结活检组织见显著的淋巴滤泡增生,伴滤泡间区增生...目的总结成人Still病(adult-onset Still disease,AOSD)病理形态特征、诊断及鉴别诊断,避免误诊误治。方法回顾分析3例AOSD淋巴结病理形态学特征、免疫表型、分子检测结果。结果病例1淋巴结活检组织见显著的淋巴滤泡增生,伴滤泡间区增生;生发中心可见星空现象,未见明显组织细胞增生灶及浆细胞、中性粒细胞等;副皮质区CD3、CD5 T淋巴细胞阳性,CD20、CD79α染色提示B淋巴细胞主要位于滤泡区,CD21滤泡树突细胞阳性,CD68组织细胞阳性。病例2淋巴结穿刺组织中可见副皮质区增生,滤泡数目减少、体积缩小,未见明显组织细胞增生灶及浆细胞、中性粒细胞等;副皮质区CD3、CD5 T淋巴细胞阳性,滤泡区CD20、CD79αB淋巴细胞阳性。病例3淋巴结穿刺组织中见淋巴结正常结构部分保存,副皮质区淋巴组织弥漫性增生,组织细胞增生呈片状伴部分坏死,坏死区可见明显核碎屑、散在浆细胞及嗜酸性粒细胞,未见明显中性粒细胞浸润;CD21、CD23滤泡树突细胞阳性,部分淋巴细胞Bcl-2、Bcl-6、CD3、CD5、CD20、CD79α、多发性骨髓瘤致癌蛋白1(multiple myeloma protein 1,MUM1)阳性,Ki-67增殖指数较高(约70%阳性),少量浆细胞CD138阳性,个别细胞CD1α阳性,CD10、CyclinD1阴性,组织细胞骨髓过氧化物酶(myeloperoxidase,MPO)阳性,原位杂交EBER阴性。3例病例TCR基因重排、IG基因重排结果均为阴性。结论AOSD免疫表型多样,须综合临床、病理形态特点及免疫表型,除外感染性疾病、恶性肿瘤、淋巴瘤等疾病后诊断。展开更多
目的探讨245例不明原因发热(fever of unknown origin,FUO)患者的病因构成、临床特点及诊疗体会。方法回顾性分析2009年1月—2011年4月在中南大学湘雅医院感染病科住院且符合FUO诊断标准的245例患者的病历资料。结果 245例FUO患者中,最...目的探讨245例不明原因发热(fever of unknown origin,FUO)患者的病因构成、临床特点及诊疗体会。方法回顾性分析2009年1月—2011年4月在中南大学湘雅医院感染病科住院且符合FUO诊断标准的245例患者的病历资料。结果 245例FUO患者中,最终明确诊断220例,确诊率为89.80%;出院时仍未明确诊断25例(10.20%)。220例确诊病例的病因分别为:感染性疾病158例(64.49%),其中细菌/真菌感染所占比率最高,达63.92%(101/158),结核病居第2位,占23.42%(37/158);结缔组织疾病33例(13.47%),成人斯蒂尔病所占比率最高,达60.61%(20/33);肿瘤性疾病22例(8.98%),其中淋巴瘤占59.09%(13/22);其他疾病7例(2.86%)。结论 FUO的病因诊断主要是感染性疾病,细菌/真菌感染是其中最主要病因;结缔组织疾病和肿瘤性疾病在FUO病因中也占重要地位。大多数FUO经仔细地体格检查和清晰的临床分析以及必要的实验室检查是可以得到确诊的。展开更多
文摘BACKGROUND Adult-onset still disease(AOSD) and hemophagocytic syndrome(HPS) are two inflammatory diseases with very similar clinical manifestations. HPS is one of the most serious complications of AOSD and its risk of death is very high. It is difficult to identify HPS early in patients with AOSD, but early identification and proper treatment directly affects the prognosis.CASE SUMMARY A 39-year-old male showed a high spiking fever and myalgia. Laboratory data revealed elevated white blood cell, serum ferritin, and neutrophil percentage.However, his fever failed to relieve after a clear diagnosis of AOSD caused by pulmonary infection and treatment by antibiotics and corticosteroids;further laboratory data showed elevated serum ferritin, C-reactive protein, erythrocyte sedimentation rate and triglyceride, as well as liver abnormalities. Bone marrow smear showed hemophagocytosis. Secondary HPS was definitely diagnosed. The high fever disappeared and the laboratory findings returned to normal values after treatment by high-dose intravenous methylprednisolone and methotrexate.CONCLUSION For AOSD patients with high suspicion of HPS, active examination needs to be considered for early diagnosis, and timely using of adequate amount of corticosteroids is the key to reducing risk of HPS death.
文摘The adult onset Still’s disease is a rare affection characterised by occurrence of fever, arthralgia or arthritis and evanescent cutaneous eruption. Multiple other systemic lesions make the diagnosis more difficult. Several diagnostic criteria were formulated to confirm this disease. The physiopathology of the adult onset Still’s disease is not well elucidated. However, several studies based on new facts in physiopathology, improved the therapy of refractory forms for which the biotherapy was an interesting alternative. The TNF alpha receptor antagonists are efficient on systemic and articular manifestations of this disease and allow a corticosteroid’s saving. Tocilizumab (interleukin 6 receptor antagonist), and Anakinra (interleukin 1 receptor antagonist) are also new promising treatments for resistant forms.
文摘The adult onset Still’s disease is a rare inflammatory pathology of unknown pathogeny. The clinical features are variable. The diagnosis is difficult since exclusion of infectious, systemic and tumoral pathologies should be done. The articular complications are frequent and can be revelatory of this pathology. The articular prognosis depends on the diagnosis delay and the treatment efficiency. Our study aims to analyze different aspects of articular manifestations complicating adult onset Still’s disease to define epidemiological, clinical and evolving characteristics of these complications. It was a cross-sectional study concerning 20 cases of adult onset Still’s disease diagnosed from 1990 to 2015 in the internal medicine A department of Charles Nicolle Hospital in Tunis, meeting Yamaguchi criteria. We identified clinical, radiological, evolving and therapeutic profile of the articular manifestations occurred in these patients. There were 13 women and 7 men. The average age was 25 years. The arthralgias were reported in all cases;while, the arthritis interested fifteen patients. A hand deformation was found in four patients. A wrist ankylosis was noted in one case and a flexion elbow in one patient. The standard articular radiographs were normal in twelve cases. The treatment associated essentially non-steroidal anti-inflammatory and/or corticosteroids and/or methotrexate. Concerning the evolving profile, the monocyclic form was present in 25% of the cases, the intermittent form in 45% and the chronic articular form in 30% of our patients. The adult onset Still’s disease is rare and heterogeneous. The articular disturbances are frequent and have various outcomes.
文摘Introduction: Systemic diseases have been the subject of few studies in the African literature and have probably been under-estimated. The objective of our study was to specify their spectrum, their epidemiological aspects and diagnostic delay in Internal Medicine Departments of Dakar (Senegal). Material and Method: It was a multicentric retrospective and descriptive study regarding all systemic diseases during 119 months from 1st January 2005 to 30 November 2014 in 5 hospital centers down Dakar. Systemic diseases were retained according to their international consensus criteria. Results: During the studying period, 726 patients were included with 632 women and 94 men (sex ratio of 0.14). The average age was 43.76 years. Inflammatory rheumatoid family history was noted in 10.06% of cases. Rheumatoid arthritis (RA) was the predominant affection, recorded on 564 patients, isolated or associated with other systemic diseases. It was followed in a decreasing order, in the systemic auto-immune diseases sub-groupe, by systemic lupus (56 cases), Sj?gren’s syndrome (32 cases), Systemic Sclerosis (26 cases), Idiopathic inflammatory myopathies (21 cases), Undifferentiated connective tissue diseases (20 cases), Anti Phospholipid’s syndrome (6 cases) and Mixed connective tissue disease (6 cases). A diagnosis of systemic vasculitis was recorded in 19 patients. The other systemic affections were represented by systemic sarcoidosis (8 cases), Adult-onset Still’s disease (03 cases), amyloidosis (02 cases) and 02 cases of systemic syndrome associated to immunodeficiency. The mean diagnostic delay duration before the diagnostic was 3.46 years. Conclusion: Systemic diseases in internal medicine are characterized by their diversity, the clear predominance of RA, and significant diagnostic delay.
文摘目的总结成人Still病(adult-onset Still disease,AOSD)病理形态特征、诊断及鉴别诊断,避免误诊误治。方法回顾分析3例AOSD淋巴结病理形态学特征、免疫表型、分子检测结果。结果病例1淋巴结活检组织见显著的淋巴滤泡增生,伴滤泡间区增生;生发中心可见星空现象,未见明显组织细胞增生灶及浆细胞、中性粒细胞等;副皮质区CD3、CD5 T淋巴细胞阳性,CD20、CD79α染色提示B淋巴细胞主要位于滤泡区,CD21滤泡树突细胞阳性,CD68组织细胞阳性。病例2淋巴结穿刺组织中可见副皮质区增生,滤泡数目减少、体积缩小,未见明显组织细胞增生灶及浆细胞、中性粒细胞等;副皮质区CD3、CD5 T淋巴细胞阳性,滤泡区CD20、CD79αB淋巴细胞阳性。病例3淋巴结穿刺组织中见淋巴结正常结构部分保存,副皮质区淋巴组织弥漫性增生,组织细胞增生呈片状伴部分坏死,坏死区可见明显核碎屑、散在浆细胞及嗜酸性粒细胞,未见明显中性粒细胞浸润;CD21、CD23滤泡树突细胞阳性,部分淋巴细胞Bcl-2、Bcl-6、CD3、CD5、CD20、CD79α、多发性骨髓瘤致癌蛋白1(multiple myeloma protein 1,MUM1)阳性,Ki-67增殖指数较高(约70%阳性),少量浆细胞CD138阳性,个别细胞CD1α阳性,CD10、CyclinD1阴性,组织细胞骨髓过氧化物酶(myeloperoxidase,MPO)阳性,原位杂交EBER阴性。3例病例TCR基因重排、IG基因重排结果均为阴性。结论AOSD免疫表型多样,须综合临床、病理形态特点及免疫表型,除外感染性疾病、恶性肿瘤、淋巴瘤等疾病后诊断。
