erythematosus

摘要： Systemic lupus erythematosus(SLE)is an autoimmune disease with multisystemic features and a variety of clinical characteristics.Typical clinical manifestations of SLE include alopecia,oral ulcers,cutaneous lesions,arthritis,renal injury,and cardiac damage.[1]Cardiac involvement is one of the common complications of SLE,which is mostly asymptomatic with only approximately 10%of cardiac injury patients experiencing symptoms such as shortness of breath and arrhythmia.However,cardiogenic shock is rare,especially as the initial manifestation of SLE.[2]Herein,we report a case of a 15-year-old male who presented with cardiogenic shock and was eventually diagnosed with SLE.

摘要： 足细胞内陷性肾小球病(podocytic infolding glomeru⁃lopathy,PIG)在10年前作为一种新的疾病被提出,其是一种罕见的基于特征性组织病理学表现的诊断。其特征是足细胞膜内陷到肾小球基底膜,电镜下可见微球和(或)微管[1]。已报道的病例大多数来自亚洲,PIG最常与系统性红斑狼疮(systemic lupus erythematosus,SLE)等自身免疫性疾病相关。本文报道1例PIG合并干燥综合征的老年女性患者,供临床参考。

摘要： cqvip:系统性红斑狼疮(Systemic lupus erythematosus,SLE)是一种慢性、累及多系统多器官的自身免疫性疾病,通常好发于青春期和更年期之间的女性,临床表现多样,具有显著的异质性。疾病可致重要脏器损害,诊断不及时或治疗不当可危及患者生命[1]。多种因素综合作用,包括遗传、环境、雌激素、免疫耐受的破坏等导致B细胞功能亢进、多种自身抗体生成、炎性细胞因子及免疫调节功能失衡等,引起免疫系统的紊乱,引发了SLE的发病。

摘要： 系统性红斑狼疮(Systemic lupus erythematosus,SLE)是一种慢性、累及多系统多器官的自身免疫性疾病,通常好发于青春期和更年期之间的女性,临床表现多样,具有显著的异质性。疾病可致重要脏器损害,诊断不及时或治疗不当可危及患者生命[1]。多种因素综合作用,包括遗传、环境、雌激素、免疫耐受的破坏等导致B细胞功能亢进、多种自身抗体生成、炎性细胞因子及免疫调节功能失衡等,引起免疫系统的紊乱,引发了SLE的发病。

摘要： 近日,上海交通大学医学院附属仁济医院风湿病学研究所沈南教授团队综合利用表观遗传学、三维基因组学及规律成簇间隔短回文重复(clustered regularly interspaced short palindromic repeats,CRISPR)技术,发现定位于基因间的rs2431697所在的增强子通过特别的染色体三维结构在单核细胞内特异性参与调控miR-146a表达,且不同等位基因可差异性地调控系统性红斑狼疮(systemic lupus erythematosus,SLE)致病基因的表达。

摘要： Systemic lupus erythematosus(SLE)is a systemic autoimmune disease characterized by abnormal cellular and humoral immune responses and excessive autoantibody production.The precise pathologic mechanism of SLE remains elusive.The advent of single-cell RNA sequencing(scRNA-seq)enables unbiased analysis of the molecular differences of cell populations at the single-cell level.We used scRNA-seq to profile the transcriptomes of peripheral blood mononuclear cells from an SLE patient compared with a healthy control(HC).A total of 16,021 cells were analyzed and partitioned into 12 distinct clusters.The marker genes of each cluster and the four major immune cell types(B cells,CD4+T cells,CD8+T cells,myeloid cells,and NK cells)were determined.Moreover,several genes involved in antigen processing and presentation through MHCII were highly enriched.GO enrichment analyses revealed abnormal gene expression patterns and signaling pathways in SLE.Of note,pseudotime analysis revealed that there was a different lineage hierarchy in the peripheral blood mononuclear cells(PBMCs)of the SLE patient,indicating that the cell states were substantially altered under disease conditions.Our analysis provides a comprehensive map of the cell types and states of the PBMCs of SLE patients at the single-cell level for a better understanding of the pathogenesis,diagnosis,and treatment of SLE.

摘要： 日前,FDA宣布批准葛兰素史克(GSK)的Benlysta(belimumab)静脉输注疗法上市,用于治疗儿童系统性红斑狼疮(systemic lupus erythematosus, SLE),这是FDA批准的首款用于治疗儿童SLE的疗法,也是自2011年Benlysta被批准用于成人SLE后增加的又一适应证。

摘要： BACKGROUND Interferons(IFNs)are characterized by a wide range of biological effects,which justifies their potential therapeutic use in several pathologies,but also elicit a wide array of adverse effects in almost every organ system.Among them,renal involvement is probably one of the most complex to identify.CASE SUMMARY We describe four cases of kidney damage caused by different IFN formulations:IFN-β-related thrombotic microangiopathy,IFN-β-induced systemic lupus erythematosus,and two cases of membranous nephropathy secondary to pegylated-IFN-α2B.In each case,we carefully excluded any other possible cause of renal involvement.Once suspected as the casual relationship between drug and kidney damage,IFN treatment was immediately discontinued.In three cases,we observed a complete and persistent remission of clinical and laboratory abnormalities after IFN withdrawal,while the patient who developed thrombotic microangiopathy,despite IFN withdrawal and complement-inhibitor therapy with eculizumab,showed persistent severe renal failure requiring dialysis.CONCLUSION This case series highlights the causal relationship between IFN treatment and different types of renal involvement and enables us to delineate several peculiarities of this association.

摘要： Acquired immunodeficiency syndrome and lupus erythematosus are multisystem diseases that can affect several organs and systems at different stages of disease evolution. Both diseases share common clinical manifestations, which may lead to diagnostic difficulties, especially at the onset of the disease. Another additional challenge is when there is an association of the two pathologies. The objective of this brief review is to describe the clinical manifestations of the diseases and to make considerations regarding the moment of onset of symptoms. Knowledge of these common manifestations and their peculiarities may alert clinicians to possible diagnoses and avoid errors in the evaluation and conduction of these patients.

摘要： Introduction: The central, psychiatric and peripheral neurological manifestations of lupus are among the most severe visceral disorders and are grouped under the general term of “neuro-psychiatric systemic lupus erythematosus” (NPSLE). We conducted a cross-sectional observational study within our Department of Internal Medicine aimed at describing the clinical and evolutionary aspects of central neurological disorders of SLE, excluding lupus myelopathy. Patients and Methods: This was a retrospective and observational cross-sectional study carried out from 1 January 2015 to 31 October 2017, in the Department of Internal Medicine of Aristide le Dantec University Hospital in Dakar (Senegal). All patients hospitalized during this period who met the 1997 ACR classification criteria of SLE and who presented with a central neuropsychiatric syndrome attributable to SLE (as defined by ACR 1999) were included. Patients with isolated headache, acute myelitis or secondary neurological involvement attributable to a toxic, metabolic, infectious or tumour-related cause were excluded from our study. Results: During the study period, 10 patients with neuropsychiatric lupus involvement were treated at our institution, including 9 women and 1 man;the median age was 29 years (20 - 55 years). Neurological involvement occurred during the course of lupus evolution in 9/10 cases. The median time to SLE evolution was 18 months (0 - 60 months). Neuropsychiatric syndromes as defined by the 1999 ACR were commonly associated and more than half of our patients had multiple neuropsychiatric syndromes. There were 5 cases of confusion syndrome and coma, 4 cases of seizure, 3 cases of psychosis, 2 cases of acute cerebrovascular disease and 1 case of aseptic meningitis. Among the extra-neurological manifestations of SLE, haematological and dermatological involvements were common. Renal involvement affected half of the patients. The other manifestations were: polyarthritis in 3 patients, serositis in 2 patients, 5 cases of fever, 4 cases of deterioration of the general state, and one isolated case of ophthalmological involvement. Therapeutically, 8 patients received a bolus of methylprednisolone and 3 patients received a bolus of cyclophosphamide. Oral corticosteroids and hydroxychloroquine were administered to all patients, and azathioprine was administered in 2 patients. The evolution was favorable in 4 patients, other 2 patients maintained neurological sequelae and 2 patients were transferred to intensive care. Death was recorded in 4 patients. Conclusion: Neuropsychiatric manifestations of lupus are rare and sometimes severe, potentially life-threatening. In our patients, we have identified some of the most severe neurological syndromes according to the ACR nomenclature. The neurological involvement is exceptionally revealing, as these syndromes are often associated and integrated into a systemic context of lupus. The evolution is rapidly unfavorable and requires early diagnosis and optimal management.