AIM:To explore ocular surface manifestations of dry eye disease(DED)and its influencing factors in systemic lupus erythematosus(SLE)patients.METHODS:Ophthalmological examinations were conducted in SLE patients(n=43)an...AIM:To explore ocular surface manifestations of dry eye disease(DED)and its influencing factors in systemic lupus erythematosus(SLE)patients.METHODS:Ophthalmological examinations were conducted in SLE patients(n=43)and controls(n=41),including Ocular Surface Disease Index(OSDI),objective scatter index(OSI),tear meniscus height(TMH),lipid layer thickness(LLT),non-invasive Keratograph tear breakup time(NIKBUT),corneal fluorescein score(CFS),Schirmer I test.DED was diagnosed according to the Tear Film and Ocular Surface Society Dry Eye Workshop II Criteria.SLE patients were further divided into DED group and non-DED group,the disease activity,clinical manifestations and laboratory investigations were compared between the two groups.The disease activity was evaluated by Systemic Lupus Erythematosus Disease Activity Index 2000(SLEDAI-2K).Receiver operative characteristic(ROC)curve and multiplefactor binary logistic regression were performed.RESULTS:SLE patients showed higher OSDI[9.1(2.8-15.9)vs 6.3(2.2-7.5),P=0.035],higher OSI[1.67(1.09-2.60)vs 0.96(0.87-1.60),P=0.001],higher CFS[1(0-2)vs 0(0-1),P=0.001],lower LLT[65(42-100)vs 100(79.5-100),P=0.010],and lower NIKBUT[8.03(4.02-9.73)vs 9.67(5.26-12.71),P=0.030]than controls.The 32.6%of SLE patients had DED,which was higher than 12.2%of healthy controls.DED group showed higher SLEDAI-2K score[9.7±6.1 vs 5.4±3.4,P=0.025],higher anti-cardiolipin antibody(ACL)[8.7(3.5-13.2)vs 3.6(2.0-6.9),P=0.035],and higher proportion of patients with cutaneous eruption[42.9%vs 6.9%,P=0.015]than non-DED group.According to multiple-factor binary logistic regression analysis,the SLEDAI-2K score(OR=1.194,P=0.041)and cutaneous eruption(OR=7.094,P=0.045)could be consider as risk factors for DED in SLE patients.The ROC curve of the combined factors including age,disease duration,SLEDAI-2K score,ACL,and cutaneous eruption was analyzed,with a sensitivity of 0.786,a specificity of 0.793,and an area under curve of 0.820.CONCLUSION:Ocular surface affection is frequent in SLE patients,and patients with high disease activity and cutaneous eruption show increased risk of DED.展开更多
Macrophage activation syndrome (MAS), in its secondary form, often complicates rheumatic diseases but rarely constitutes a mode of revelation. Systemic lupus erythematosus (SLE) is a systemic autoimmune disease of unk...Macrophage activation syndrome (MAS), in its secondary form, often complicates rheumatic diseases but rarely constitutes a mode of revelation. Systemic lupus erythematosus (SLE) is a systemic autoimmune disease of unknown etiology that primarily affects women in adulthood. MAS is a serious condition that may be the first presentation of SLE. Here, we report the case of a 4-year-old female with MAS as the primary manifestation of Systemic Lupus Erythematosus (SLE). In this case, we outline the characteristics of a complex case of SLE that was initially accompanied with MAS, and also review the literature to discuss the clinical, biological, and therapeutic aspects of this condition.展开更多
Systemic lupus erythematosus(SLE)is a chronic autoimmune disease in which multiple organs are damaged that prevails in fertile women.Currently,glucocorticoids and immunosuppressants are widely used to treat SLE patien...Systemic lupus erythematosus(SLE)is a chronic autoimmune disease in which multiple organs are damaged that prevails in fertile women.Currently,glucocorticoids and immunosuppressants are widely used to treat SLE patients.However,ovarian dysfunction occurs following the use of these drugs in women with SLE.Here,we summarize recent progress in terms of understanding ovarian injury,the effects of drug application and strategies to improve ovarian function in women with SLE.This review could be helpful to precisely cure SLE in women desiring to have offspring.展开更多
Objective:This study examined patients with systemic lupus erythematosus(SLE)as a means to explore the impacts of chronic disease on life courses.Methods:A semi-structured in-depth interviews were conducted with nine ...Objective:This study examined patients with systemic lupus erythematosus(SLE)as a means to explore the impacts of chronic disease on life courses.Methods:A semi-structured in-depth interviews were conducted with nine patients in China in 2017;participants were included based on their having or having had facial butterfly erythema.Results:The study focused on both the disease's impact on the patients'health and on their daily lives.Four core themes emerged:visible changes in the patient's bodies,social dilemmas,"the encouragement of disease",and a new perspective on the relationship between disease and health.One important finding was that the occurrence of a chronic disease did not have only negative repercussions;some patients felt that there were advantages to being sick.Chronic disease resulted in a reworking of daily life.The patients developed a self-referential model of healing.Conclusion:The distinct interpretations of the same disease offered by different patients served to yield a more complete understanding of the disease.People with SLE adjust their thinking about the disease based on personal feelings as well as experiences and pursue a dialogue on their illness based on the disease pattern unique to them.The meaning that disease had for the patients was not limited to negative connotations.展开更多
Purpose: To report a case of atypical Kikuchi-Fujimoto disease (KFD) that illustrates several overlapping features with systemic lupus erythematosus (SLE). Methods: A case is reported followed by a review of the curre...Purpose: To report a case of atypical Kikuchi-Fujimoto disease (KFD) that illustrates several overlapping features with systemic lupus erythematosus (SLE). Methods: A case is reported followed by a review of the current literature. Case report: A 16-year-old boy with an unusual manifestation of Kikuchi-Fujimoto disease (KFD) is described. The patient presented with fever, weight loss and severe abdominal pain, due to extensive necrotizing retroperitoneal and mesenteric lymphadenopathy. During the course of his illness, he developed several symptoms suggestive of systemic lupus erythematosus (SLE): a pericardial effusion, cotton wool spots on the retina and antibodies against nuclear antigens (ANA), Smith (Sm) and ribonucleoprotein (RNP) antigens. However, no additional features of SLE were found. The patient subsequently fully recovered within two months, without initiation of immunosuppressive therapy. His autoantibodies became negative five months after initial presentation and he remains well at his 23 month follow up visit. Discussion: We hypothesize that the autoantibodies developed by our patient were secondary to self-antigen induced autoimmunity related to his extensive tissue necrosis. Despite initially having clinical features suggestive of SLE, our patient’s full and spontaneous recovery strongly supports the diagnosis of KFD. This illustrates the need for careful diagnosis, in order to avoid unnecessary and potentially toxic treatment with immunosuppressive agents.展开更多
Systemic lupus erythematosus (SLE) is associated with accelerated atherosclerosis and increasing cardiovascular risk which is recognized as a major cause of morbidity and death. Whether subclinical atherosclerosis has...Systemic lupus erythematosus (SLE) is associated with accelerated atherosclerosis and increasing cardiovascular risk which is recognized as a major cause of morbidity and death. Whether subclinical atherosclerosis has been evaluated by several methods, there are very limited data about Ankle-Brachial Index (ABI) in patients with systemic lupus erythematosus. The aim of the present study was to compare this index, between SLE patients and controls. We conducted a case-control study in the Department of Internal Medicine of our institution during the period from August 1, 2017 to December 31, 2018. We included 100 subjects, including 50 SLE patients and 50 control cases. This included 44 women and 6 men in patients with an identical distribution in controls. The mean age was 33.5 ± 11.3 years for cases and 33.3 ± 11.3 years (p-value: 0.93) for controls subjects. There was higher frequency of cardiovascular risk factors such as dyslipidemia (p-value at 0.009), low level of serum HDL-cholesterol (p-value??0.001), hypertriglyceridemia (p-value at 0.000) and hyperuricemia (p-value at 0.000) in patients with SLE. Overweight/obesity was higher in controls subjects (p-value at 0.028). There was no statistically significant difference in the frequency of diabetes-mellitus, smoking and high blood pressure. The abnormally ABI was recorded in 19 patients with SLE (38%) and 8 controls (16%) with a p-value: 0.01 and odds ratio: 3.22. Eight patients (16%) and four controls (8%) had low ABI without significant difference (p-value: 0.11 but odds-ratio at 2.98). Eleven patients with SLE (22%) and five controls (10%) had high ABI (p-value: 0.05 and odds-ratio: 3.24). In patients with SLE only disease activity (cSLEDAI) at the inclusion of the study was correlated?to abnormal ABI.?Conclusion:?This study showed an increasing prevalence of abnormal ABI in black African patients with SLE compared to controls with a correlation between disease activity and abnormal ABI.展开更多
BACKGROUND Pregnancy in the setting of systemic lupus erythematosus can worsen thecondition from the stable to active stage, with quality of life and fertility desirebeing particular concerns. Pregnancy in the active ...BACKGROUND Pregnancy in the setting of systemic lupus erythematosus can worsen thecondition from the stable to active stage, with quality of life and fertility desirebeing particular concerns. Pregnancy in the active stage of systemic lupuserythematosus (ASLE), although rare and complicated to manage, can be treatedfavorably with immunotherapies ifs used properly. Here we report such a successcase.CASE SUMMARY A 31-year-old primigravida patient, diagnosed with SLE seven years ago, wasinduced ASLE after a cold at 21 + weeks. The patient’s vital signs on presentationwere normal. Her laboratory exam was remarkable for significant proteinuria,liver and renal dysfunction, and low C3 and C4 levels. Infectious work-up wasnegative. The patient was diagnosed with ASLE. She was given immunosuppressiveagents (methylprednisolone, gamma globulin and azathioprine etc.)and plasma adsorption therapy, monitoring blood pressure every 8 h, fetal heartrate twice a day, and liver and renal function at least twice a week. Successfulmaternal and fetal outcomes are presented here.CONCLUSION Child-bearing in ASLE has become more promising, even for this difficult case ofASLE with multiple organ damage. Thorough antepartum counseling, cautiousmaternal-fetal monitoring, and multi-organ function monitoring bymultidisciplinary specialties are keys to favorable pregnancy outcomes.展开更多
BACKGROUND Macrophage activation syndrome(MAS)is defined as a specific secondary hemophagocytic lymphohistiocytosis that refers particularly to those triggered by autoimmune diseases.MAS is a rare and highly lethal co...BACKGROUND Macrophage activation syndrome(MAS)is defined as a specific secondary hemophagocytic lymphohistiocytosis that refers particularly to those triggered by autoimmune diseases.MAS is a rare and highly lethal complication of systemic lupus erythematosus(SLE),which can be associated with,or mimic,disease flare.However,the data regarding the clinical course,management and outcome of SLE with MAS is limited,especially in adults.Lack of clinical recognition of the disease often leads to poor prognosis.CASE SUMMARY We report a 36-year-old Chinese woman without relevant past medical history who was admitted to hospital with a 6-d history of jaundice and a high fever of 39.4°C lasting one day.Abdominal magnetic resonance imaging excluded obstructive jaundice,no infection was identified and empiric superior antibiotic treatment(meropenem)showed no clinical improvement.However,newly emerged pancytopenia and respiratory failure endangered the patient’s life.Autoimmune work-up finally led to the diagnosis of SLE,which initially presented as MAS and manifested respiratory failure,although neither bone marrow biopsy nor lymph node biopsy showed hemophagocytosis.To our knowledge,such a scenario has never been reported in detail before.The patient had a favorable reaction to combination treatment with corticosteroid and cyclosporine A and has been in clinical remission during the 1-year follow up period.CONCLUSION Respiratory failure and MAS can be an onset of SLE.Early diagnosis and appropriate treatment are extremely important for a better prognosis.展开更多
Recently we have shown the presence of catalytically active IgGs, capable to cleave histone H1 and bovine myelin basic protein (MBP), in blood serum of SLE patients. Here we present data that demonstrate the correlati...Recently we have shown the presence of catalytically active IgGs, capable to cleave histone H1 and bovine myelin basic protein (MBP), in blood serum of SLE patients. Here we present data that demonstrate the correlation between a) proteolytic activity towards histone H1 and MBP of IgG-antibodies from blood serum of SLE patients and b) disease severity level in these patients. IgGs were isolated from blood serum by chromatography on protein G-sepharose. Commercial preparations of bovine myelin basic proteins (MBP) and calf thymus histone H1 were used as substrates. Analysis of the proteolytic activity showed that 16 of 38 lgG-preparations (42,1%) obtained from blood serum of SLE patients were capable of cleaving both histone H1 and MBP with different efficiency. It was revealed that the presence in blood serum of lgGs possessing proteolytic activity towards both histone H1 and bMBP closely correlates with manifestation of the disease severity in SLE patients.展开更多
In a recent article on World J Clin Cases 2019;7:3859-3865,Sun et al reported a case of 36-year-old female with macrophage activity syndrome as an onset of systemic lupus erythematosus.Although this is a very interest...In a recent article on World J Clin Cases 2019;7:3859-3865,Sun et al reported a case of 36-year-old female with macrophage activity syndrome as an onset of systemic lupus erythematosus.Although this is a very interesting case,some concerns still need to be addressed.First,the patient had an extremely elevated serum ferritin but a normal C-reactive protein level,which was unparallel with the inflammatory condition before she received any treatments.Second,the diagnosis of systemic lupus erythematosus seemed to be insufficient according to the patient’s medical information presented,most of which were not specific to lupus but could be explained by macrophage activity syndrome.Hence,more medical information on the patient should be provided,and a profound discussion needs to be addressed.展开更多
Background: Systemic lupus erythematosis (SLE) is a disorder with multiple organ involvement. Haematological abnormalities have been addressed in it, but acquired von Willebrand syndrome is a rarer phenomenon in curre...Background: Systemic lupus erythematosis (SLE) is a disorder with multiple organ involvement. Haematological abnormalities have been addressed in it, but acquired von Willebrand syndrome is a rarer phenomenon in current disease. The Case: We report acquired von Willebrand syndrome and SLE in a man with brown rash on face, gingival bleeding, easy bruising and epistaxis and laboratory finding of decreased complement, high level of anti-nuclear antibody and anti-DNA. These findings confirmed the diagnosis of SLE. He underwent kidney biopsy and experienced severe pain at the site of biopsy, but the ultra-sonography evaluation showed small sub capsular haematoma at the site of biopsy. During the next 48 hours, gradually APTT prolongation was continued and haematocrit dropped. In spite of FFP infusion and taking tranexamic acid every eight hours, there wasn’t any improvement in haemostatic condition. He received Methylprednisolone and Cyclophosphamid pulses. The patient underwent surgery to roll out vascular complication, but there wasn’t any vascular problem. On the third day, recombinant activated factor VII was infused every two hours until oozing was stopped.展开更多
Aim: We aimed to investigate whether the agonists for liver X receptor (LXR) ameliorate lupus-like phenotypes in mice mediated by the clearance of apoptotic cells, and compare with peroxisome proliferator-activated re...Aim: We aimed to investigate whether the agonists for liver X receptor (LXR) ameliorate lupus-like phenotypes in mice mediated by the clearance of apoptotic cells, and compare with peroxisome proliferator-activated receptor (PPAR) γ plus PPARδ agonists, which also facilitate the clearance of apoptotic cells and exert anti-inflammatory effects in systemic lupus erythematosus (SLE). Methods: We investigated the efficacy of LXR agonist (GW3965) or dual treatment of PPARγ (pioglitazone) and PPARδ (GW0742) agonists in SLE animal models, female MRL/MpJ-Fas/J mice and BALB/cAJcl mice treated with pristane. The data were analyzed with one-way analysis of variance and Tukey’s honestly significant difference tests. Results: The treatment with LXR or PPARγ/δ agonists did not significantly alter the swelling of lymph nodes, ds-DNA production, albuminuria, histological score of glomerular lesions, and mRNA expression of target genes including Abca1, C1qa, Icam1, Mertk and Tnf. Conclusion: LXR or PPARγ/δ agonists targeting the impaired clearance for apoptosis cells may not be efficient in the remission induction therapy in SLE.展开更多
Introduction:Despite the medical and scientific advances,the disease’s restrictions and the perception of personal and social losses related to its course reinforce fear and generate intense suffering in lupus patien...Introduction:Despite the medical and scientific advances,the disease’s restrictions and the perception of personal and social losses related to its course reinforce fear and generate intense suffering in lupus patients.Psychiatric comorbidities,especially major depressive episodes,are highly prevalent during systemic lupus erythematosus.Among them,suicide is a behavior that is much more common than we believe.Objective:To perform a narrative review on suicidal behavior associated with systemic erythematosus lupus(SLE).Results:Studies have shown an increased risk of suicide among patients with chronic diseases and psychiatric disorders,especially depression.However,suicide cannot be attributed only to a higher prevalence of depression and other mental illnesses.Therefore,it is necessary to learn more about the suicide risk factors present in patients with lupus to work on secondary prevention and avoid the premature loss of lives and the additional suffering of families and surrounding communities.The coordination between the studies on suicidal behavior and its intricate network of individual and sociocultural factors and the studies on this multisystem autoimmune disease with a broad manifestation spectrum,lupus,creates new and essential field research.Conclusions:Non-psychiatrist office-based physicians,health clinics,or wards dedicated to the treatment of SLE should recognize and handle the suicide risk factors on their patients to reduce the suffering caused by this disease.展开更多
Objective:To evaluate the effects of rituximab versus mycophenolate mofetil or cyclophosphamide as control in lupus nephritis by meta-analysis.Methods:A systematic search was carried out up to January 2022,obtaining 7...Objective:To evaluate the effects of rituximab versus mycophenolate mofetil or cyclophosphamide as control in lupus nephritis by meta-analysis.Methods:A systematic search was carried out up to January 2022,obtaining 7 studies involving 645 participants with lupus nephritis at the commencement of the investigation;198 of them were treated with rituximab,while 447 were treated with mycophenolate mofetil or cyclophosphamide.We determined the odds ratio(OR)and mean difference(MD)with 95%confidence index(CI)to compare rituximab’s efficacy to that of mycophenolate mofetil or cyclophosphamide as control in lupus nephritis using random-or fixed-effects model by dichotomous or continuous techniques.Results:The rituximab group showed significantly higher complete renal remission rate(OR=2.52;95%CI 1.30-4.91,P=0.006)and total renal remission rates(OR=2.22;95%CI 1.36-3.63,P=0.001)than the control group.However,there was no significant difference in terms of end Systemic Lupus Erythematosus Disease Activity Index(SLEDAI)score(MD-1.16;95%CI-2.88-0.57,P=0.19),proteinuria(MD-0.31;95%CI-0.70-0.09,P=0.013),and serum creatinine(MD 0.01;95%CI-0.04-0.07,P=0.64)between the rituximab group and the control.Conclusion:Rituximab exhibited significantly greater complete renal remission rate and total renal remission rates,with no significant difference in terms of shorter-end SLEDAI,proteinuria,and serum creatinine,compared with the control in individuals with lupus nephritis.展开更多
BACKGROUND The inverse association between systemic immune-inammation index(SII)and overall survival in tumors has been studied.AIM To evaluate the hematological indexes for assessing the activity of ulcerative colit...BACKGROUND The inverse association between systemic immune-inammation index(SII)and overall survival in tumors has been studied.AIM To evaluate the hematological indexes for assessing the activity of ulcerative colitis(UC).METHODS In this case-control study,172 UC patients and healthy participants were included.Comparisons were made among groups of white blood cells,hemoglobin,platelets,neutrophils,lymphocytes,monocytes,SII,neutrophil-tolymphocyte ratio(NLR),and platelet-to-lymphocyte ratio(PLR).The relationship with hematological inflammation was verified by Spearman correlation analyses.The efficiency of SII,NLR,and PLR for distinguishing between UC and severe disease status was assessed by the receiver operator curve and logistic regression analyses.RESULTS The values of SII,NLR,and PLR were higher in UC patients than in controls(P<0.001)and were positively correlated with the Mayo endoscopic score,extent,Degree of Ulcerative Colitis Burden of Luminal Inflammation(DUBLIN)score,and Ulcerative Colitis Endoscopic Index of Severity(UCEIS).The cut-off NLR value of 562.22 predicted UC with a sensitivity of 79.65%and a specificity of 76.16%.Logistic regression analysis revealed that patients with SII and NLR levels above the median had a significantly higher risk of UC(P<0.05).Risk factors independently associated with DUBLIN≥3 included SII≥1776.80[odds ratio(OR)=11.53,P=0.027]and NLR value of 2.67-4.23(OR=2.96,P=0.047)on multivariate analysis.Compared with the first quartile,SII≥1776.80 was an independent predictor of UCEIS≥5(OR=18.46,P=0.012).CONCLUSION SII has a certain value in confirming UC and identifying its activity.展开更多
AIM: To investigate the association between autoimmune pancreatitis (AIP) and systemic autoimmune diseases (SAIDs) by measurement of serum immunoglobulin G4 (IgG4). METHODS: The serum level of IgG4 was measured in 61 ...AIM: To investigate the association between autoimmune pancreatitis (AIP) and systemic autoimmune diseases (SAIDs) by measurement of serum immunoglobulin G4 (IgG4). METHODS: The serum level of IgG4 was measured in 61 patients with SAIDs of different types who had not yet participated in glucocorticosteroid treatment. Patients with an elevated IgG4 level were examined by abdominal ultrasonography (US) and, in some cases, by computer tomography (CT). RESULTS: Elevated serum IgG4 levels (919 ± 996 mg/L) were detected in 17 (28%) of the 61 SAID patients. 10 patients had Sj gren's syndrome (SS) (IgG4: 590 ± 232 mg/L), 2 of them in association with Hashimoto's thyroiditis, and 7 patients (IgG4: 1388 ± 985.5 mg/L) had systemic lupus erythematosus (SLE). The IgG4 level in the SLE patients and that in patients with SS were not significantly different from that in AIP patients (783 ± 522 mg/L). Abdominal US and CT did not reveal any characteristic features of AIP among the SAID patients with an elevated IgG4 level. CONCLUSION: The serum IgG4 level may be elevated in SAIDs without the presence of AIP. The determination of serum IgG4 does not seem to be suitable for the differentiation between IgG4-related diseases and SAIDs.展开更多
Kikuchi-Fujimoto disease,a rare form of necrotizing lymphadenitis,is an uncommon,benign,self-limiting disorder of obscure etiology.It affects mostly young adults of both genders.Clinically,it presents with fever and l...Kikuchi-Fujimoto disease,a rare form of necrotizing lymphadenitis,is an uncommon,benign,self-limiting disorder of obscure etiology.It affects mostly young adults of both genders.Clinically,it presents with fever and lymphadenopathy of a firm to rubbery consistency frequently involving cervical lymph nodes while weight loss,splenomegaly,leucopenia,and elevated erythrocyte sedimentation rate feature in severely affected patients.Cutaneous involvement occurs in about 30%-40%of cases as facial erythema and nonspecific erythematous papules,plaques,acneiform or morbilliform lesions of great histologic heterogeneity.Both Kikuchi-Fujimoto disease and systemic lupus erythematosus share an obscure and complex relationship as systemic lupus erythematosus may occasionally precede,develop subsequently,or sometimes be associated concurrently with Kikuchi-Fujimoto disease.It is often mistaken for non-Hodgkin lymphoma while lupus lymphadenitis,cat-scratch disease,Sweet’s syndrome,Still’s disease,drug eruptions,infectious mononucleosis,and viral or tubercular lymphadenitis are other common differentials.Fine needle aspiration cytology mostly has features of nonspecific reactive lymphadenitis and immunohistochemistry studies usually show variable features of uncertain diagnostic value.Since its diagnosis is exclusively from histopathology,it needs to be evaluated more carefully;an early lymph node biopsy will obviate the need for unnecessary investigations and therapeutic trials.Its treatment with systemic corticosteroids,hydroxychloroquine,or antimicrobial agents mostly remains empirical.The article reviews clinicoepidemiological,diagnostic,and management aspects of KFD from the perspective of practicing clinicians.展开更多
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 manifestatio...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.展开更多
<strong>Introduction:</strong> Systemic Autoimmune Diseases (SAID) long considered very rare in Africa are increasingly the subject of publications. The objective of this work is to identify the difficulti...<strong>Introduction:</strong> Systemic Autoimmune Diseases (SAID) long considered very rare in Africa are increasingly the subject of publications. The objective of this work is to identify the difficulties in the management of these pathologies in an internal medicine department in northern Senegal by analyzing the epidemiological, clinical-biological, therapeutic and evolutionary aspects of SAID. <strong>Methods:</strong> This was a descriptive cross-sectional study carried out in the internal medicine department of the Saint-Louis University Hospital Center. Included were all the files of patients followed in outpatient and/or hospitalization for autoimmune diseases according to the criteria of the American College of Rheumatology, during the period from January 2017 to December 2020. The data were analyzed using SPSS software version 21.0. As the study was descriptive, no statistical test was performed. <strong>Results: </strong>Out of 3800 patients, 70 presented SAID, <i>i.e. </i> a hospital prevalence of 1.8%. Polyarthritis was the first reason for consultation in 97% followed by skin manifestations in 8%. The patients had positive anti-nuclear autoantibodies in 88% of cases. Rheumatoid arthritis was the predominant condition (71%) followed by systemic lupus erythematosus (SLE) (15%) and undifferentiated autoimmune diseases in 10%. Eleven percent (11%) of patients had an associated autoimmune disease. Corticosteroids were used in the treatment of these conditions in 97% of cases and methotrexate was the most prescribed immunosuppressant (54%). Thirty-two percent (32%) of patients are lost to follow-up. <strong>Conclusion:</strong> SAID are diverse and under diagnosed;they are characterized by diagnostic delay above all linked to access to specialists and sometimes to the high cost of paraclinical examinations, in particular immunology. Treatment remains based primarily on corticosteroid therapy and conventional immunosuppressants in the face of the unavailability of biotherapies.展开更多
BACKGROUND The IFIH1 gene codes the MDA5 protein and the DDX58 gene codes the RIG-I receptor.Both proteins are parts of the interferon(IFN)I signaling pathway and are responsible for antiviral defense and innate immun...BACKGROUND The IFIH1 gene codes the MDA5 protein and the DDX58 gene codes the RIG-I receptor.Both proteins are parts of the interferon(IFN)I signaling pathway and are responsible for antiviral defense and innate immune response.IFIH1 and DDX58 polymorphisms are associated with a spectrum of autoimmune diseases.Rare gain-of-function IFIH1 mutations have been found in Singleton-Merten and Aicardi-Goutières syndrome,while DDX58 mutation can cause atypical Singleton-Merten syndrome.AIM To characterize children with pediatric rheumatic diseases(PRD)carrying DDX58 or IFIH1 variants.METHODS Clinical exome sequencing was performed on 92 children with different PRD.IFIH1 and DDX58 variants have been detected in 14 children.IFN-I score has been analyzed and the clinical characteristics of patients have been studied.RESULTS A total of seven patients with systemic lupus erythematosus(SLE)(n=2),myelodysplastic syndrome with SLE features at the onset of the disease(n=1),mixed connective tissue disease(MCTD)(n=1),undifferentiated systemic autoinflammatory disease(uSAID)(n=3)have 5 different variants of the DDX58 gene.A common non-pathogenic variant p.D580E has been found in five children.A rare variant of uncertain significance(VUS)p.N354S was found in one patient with uSAID,a rare likely non-pathogenic variant p.E37K in one patient with uSAID,and a rare likely pathogenic variant p.Cys864fs in a patient with SLE.Elevated IFN-I score was detected in 6 of 7 patients with DDX58 variants.Seven patients had six different IFIH1 variants.They were presented with uSAID(n=2),juvenile dermatomyositis(JDM)(n=1),SLElike disease(n=1),Periodic fever with aphthous stomatitis,pharyngitis,and adenitis syndrome(n=1),and systemic onset juvenile idiopathic arthritis(n=1).Three patients have VUS p.E627X,one patient has benign variant p.I923V.Rare VUS p.R595H was detected in the JDM patient.Another rare VUS p.L679Ifs*2 and previously not reported variant p.V599Ffs*5 were detected in the patient with uSAID.One patient with uSAID has rare VUS p.T520A.All patients had elevated IFN-I scores.CONCLUSION Rare compound-heterozygous IFIH1 variant(p.L679Ifs*2 and p.V599Ffs*5),heterozygous IFIH1 variant(p.T520A)and heterozygous DDX58 variant(p.Cys864fs)are probably disease causative for uSAID and SLE.The majority of patients with different DDX58 and IFI1 variants had hyperactivation of the IFN I signaling pathway.展开更多
文摘AIM:To explore ocular surface manifestations of dry eye disease(DED)and its influencing factors in systemic lupus erythematosus(SLE)patients.METHODS:Ophthalmological examinations were conducted in SLE patients(n=43)and controls(n=41),including Ocular Surface Disease Index(OSDI),objective scatter index(OSI),tear meniscus height(TMH),lipid layer thickness(LLT),non-invasive Keratograph tear breakup time(NIKBUT),corneal fluorescein score(CFS),Schirmer I test.DED was diagnosed according to the Tear Film and Ocular Surface Society Dry Eye Workshop II Criteria.SLE patients were further divided into DED group and non-DED group,the disease activity,clinical manifestations and laboratory investigations were compared between the two groups.The disease activity was evaluated by Systemic Lupus Erythematosus Disease Activity Index 2000(SLEDAI-2K).Receiver operative characteristic(ROC)curve and multiplefactor binary logistic regression were performed.RESULTS:SLE patients showed higher OSDI[9.1(2.8-15.9)vs 6.3(2.2-7.5),P=0.035],higher OSI[1.67(1.09-2.60)vs 0.96(0.87-1.60),P=0.001],higher CFS[1(0-2)vs 0(0-1),P=0.001],lower LLT[65(42-100)vs 100(79.5-100),P=0.010],and lower NIKBUT[8.03(4.02-9.73)vs 9.67(5.26-12.71),P=0.030]than controls.The 32.6%of SLE patients had DED,which was higher than 12.2%of healthy controls.DED group showed higher SLEDAI-2K score[9.7±6.1 vs 5.4±3.4,P=0.025],higher anti-cardiolipin antibody(ACL)[8.7(3.5-13.2)vs 3.6(2.0-6.9),P=0.035],and higher proportion of patients with cutaneous eruption[42.9%vs 6.9%,P=0.015]than non-DED group.According to multiple-factor binary logistic regression analysis,the SLEDAI-2K score(OR=1.194,P=0.041)and cutaneous eruption(OR=7.094,P=0.045)could be consider as risk factors for DED in SLE patients.The ROC curve of the combined factors including age,disease duration,SLEDAI-2K score,ACL,and cutaneous eruption was analyzed,with a sensitivity of 0.786,a specificity of 0.793,and an area under curve of 0.820.CONCLUSION:Ocular surface affection is frequent in SLE patients,and patients with high disease activity and cutaneous eruption show increased risk of DED.
文摘Macrophage activation syndrome (MAS), in its secondary form, often complicates rheumatic diseases but rarely constitutes a mode of revelation. Systemic lupus erythematosus (SLE) is a systemic autoimmune disease of unknown etiology that primarily affects women in adulthood. MAS is a serious condition that may be the first presentation of SLE. Here, we report the case of a 4-year-old female with MAS as the primary manifestation of Systemic Lupus Erythematosus (SLE). In this case, we outline the characteristics of a complex case of SLE that was initially accompanied with MAS, and also review the literature to discuss the clinical, biological, and therapeutic aspects of this condition.
基金Supported by the National Natural Science Foundation of China,No.82271843Key Project supported by Medical Science and Technology Development Foundation,Nanjing Department of Health,No.ZKX20019.
文摘Systemic lupus erythematosus(SLE)is a chronic autoimmune disease in which multiple organs are damaged that prevails in fertile women.Currently,glucocorticoids and immunosuppressants are widely used to treat SLE patients.However,ovarian dysfunction occurs following the use of these drugs in women with SLE.Here,we summarize recent progress in terms of understanding ovarian injury,the effects of drug application and strategies to improve ovarian function in women with SLE.This review could be helpful to precisely cure SLE in women desiring to have offspring.
文摘Objective:This study examined patients with systemic lupus erythematosus(SLE)as a means to explore the impacts of chronic disease on life courses.Methods:A semi-structured in-depth interviews were conducted with nine patients in China in 2017;participants were included based on their having or having had facial butterfly erythema.Results:The study focused on both the disease's impact on the patients'health and on their daily lives.Four core themes emerged:visible changes in the patient's bodies,social dilemmas,"the encouragement of disease",and a new perspective on the relationship between disease and health.One important finding was that the occurrence of a chronic disease did not have only negative repercussions;some patients felt that there were advantages to being sick.Chronic disease resulted in a reworking of daily life.The patients developed a self-referential model of healing.Conclusion:The distinct interpretations of the same disease offered by different patients served to yield a more complete understanding of the disease.People with SLE adjust their thinking about the disease based on personal feelings as well as experiences and pursue a dialogue on their illness based on the disease pattern unique to them.The meaning that disease had for the patients was not limited to negative connotations.
文摘Purpose: To report a case of atypical Kikuchi-Fujimoto disease (KFD) that illustrates several overlapping features with systemic lupus erythematosus (SLE). Methods: A case is reported followed by a review of the current literature. Case report: A 16-year-old boy with an unusual manifestation of Kikuchi-Fujimoto disease (KFD) is described. The patient presented with fever, weight loss and severe abdominal pain, due to extensive necrotizing retroperitoneal and mesenteric lymphadenopathy. During the course of his illness, he developed several symptoms suggestive of systemic lupus erythematosus (SLE): a pericardial effusion, cotton wool spots on the retina and antibodies against nuclear antigens (ANA), Smith (Sm) and ribonucleoprotein (RNP) antigens. However, no additional features of SLE were found. The patient subsequently fully recovered within two months, without initiation of immunosuppressive therapy. His autoantibodies became negative five months after initial presentation and he remains well at his 23 month follow up visit. Discussion: We hypothesize that the autoantibodies developed by our patient were secondary to self-antigen induced autoimmunity related to his extensive tissue necrosis. Despite initially having clinical features suggestive of SLE, our patient’s full and spontaneous recovery strongly supports the diagnosis of KFD. This illustrates the need for careful diagnosis, in order to avoid unnecessary and potentially toxic treatment with immunosuppressive agents.
文摘Systemic lupus erythematosus (SLE) is associated with accelerated atherosclerosis and increasing cardiovascular risk which is recognized as a major cause of morbidity and death. Whether subclinical atherosclerosis has been evaluated by several methods, there are very limited data about Ankle-Brachial Index (ABI) in patients with systemic lupus erythematosus. The aim of the present study was to compare this index, between SLE patients and controls. We conducted a case-control study in the Department of Internal Medicine of our institution during the period from August 1, 2017 to December 31, 2018. We included 100 subjects, including 50 SLE patients and 50 control cases. This included 44 women and 6 men in patients with an identical distribution in controls. The mean age was 33.5 ± 11.3 years for cases and 33.3 ± 11.3 years (p-value: 0.93) for controls subjects. There was higher frequency of cardiovascular risk factors such as dyslipidemia (p-value at 0.009), low level of serum HDL-cholesterol (p-value??0.001), hypertriglyceridemia (p-value at 0.000) and hyperuricemia (p-value at 0.000) in patients with SLE. Overweight/obesity was higher in controls subjects (p-value at 0.028). There was no statistically significant difference in the frequency of diabetes-mellitus, smoking and high blood pressure. The abnormally ABI was recorded in 19 patients with SLE (38%) and 8 controls (16%) with a p-value: 0.01 and odds ratio: 3.22. Eight patients (16%) and four controls (8%) had low ABI without significant difference (p-value: 0.11 but odds-ratio at 2.98). Eleven patients with SLE (22%) and five controls (10%) had high ABI (p-value: 0.05 and odds-ratio: 3.24). In patients with SLE only disease activity (cSLEDAI) at the inclusion of the study was correlated?to abnormal ABI.?Conclusion:?This study showed an increasing prevalence of abnormal ABI in black African patients with SLE compared to controls with a correlation between disease activity and abnormal ABI.
文摘BACKGROUND Pregnancy in the setting of systemic lupus erythematosus can worsen thecondition from the stable to active stage, with quality of life and fertility desirebeing particular concerns. Pregnancy in the active stage of systemic lupuserythematosus (ASLE), although rare and complicated to manage, can be treatedfavorably with immunotherapies ifs used properly. Here we report such a successcase.CASE SUMMARY A 31-year-old primigravida patient, diagnosed with SLE seven years ago, wasinduced ASLE after a cold at 21 + weeks. The patient’s vital signs on presentationwere normal. Her laboratory exam was remarkable for significant proteinuria,liver and renal dysfunction, and low C3 and C4 levels. Infectious work-up wasnegative. The patient was diagnosed with ASLE. She was given immunosuppressiveagents (methylprednisolone, gamma globulin and azathioprine etc.)and plasma adsorption therapy, monitoring blood pressure every 8 h, fetal heartrate twice a day, and liver and renal function at least twice a week. Successfulmaternal and fetal outcomes are presented here.CONCLUSION Child-bearing in ASLE has become more promising, even for this difficult case ofASLE with multiple organ damage. Thorough antepartum counseling, cautiousmaternal-fetal monitoring, and multi-organ function monitoring bymultidisciplinary specialties are keys to favorable pregnancy outcomes.
文摘BACKGROUND Macrophage activation syndrome(MAS)is defined as a specific secondary hemophagocytic lymphohistiocytosis that refers particularly to those triggered by autoimmune diseases.MAS is a rare and highly lethal complication of systemic lupus erythematosus(SLE),which can be associated with,or mimic,disease flare.However,the data regarding the clinical course,management and outcome of SLE with MAS is limited,especially in adults.Lack of clinical recognition of the disease often leads to poor prognosis.CASE SUMMARY We report a 36-year-old Chinese woman without relevant past medical history who was admitted to hospital with a 6-d history of jaundice and a high fever of 39.4°C lasting one day.Abdominal magnetic resonance imaging excluded obstructive jaundice,no infection was identified and empiric superior antibiotic treatment(meropenem)showed no clinical improvement.However,newly emerged pancytopenia and respiratory failure endangered the patient’s life.Autoimmune work-up finally led to the diagnosis of SLE,which initially presented as MAS and manifested respiratory failure,although neither bone marrow biopsy nor lymph node biopsy showed hemophagocytosis.To our knowledge,such a scenario has never been reported in detail before.The patient had a favorable reaction to combination treatment with corticosteroid and cyclosporine A and has been in clinical remission during the 1-year follow up period.CONCLUSION Respiratory failure and MAS can be an onset of SLE.Early diagnosis and appropriate treatment are extremely important for a better prognosis.
文摘Recently we have shown the presence of catalytically active IgGs, capable to cleave histone H1 and bovine myelin basic protein (MBP), in blood serum of SLE patients. Here we present data that demonstrate the correlation between a) proteolytic activity towards histone H1 and MBP of IgG-antibodies from blood serum of SLE patients and b) disease severity level in these patients. IgGs were isolated from blood serum by chromatography on protein G-sepharose. Commercial preparations of bovine myelin basic proteins (MBP) and calf thymus histone H1 were used as substrates. Analysis of the proteolytic activity showed that 16 of 38 lgG-preparations (42,1%) obtained from blood serum of SLE patients were capable of cleaving both histone H1 and MBP with different efficiency. It was revealed that the presence in blood serum of lgGs possessing proteolytic activity towards both histone H1 and bMBP closely correlates with manifestation of the disease severity in SLE patients.
文摘In a recent article on World J Clin Cases 2019;7:3859-3865,Sun et al reported a case of 36-year-old female with macrophage activity syndrome as an onset of systemic lupus erythematosus.Although this is a very interesting case,some concerns still need to be addressed.First,the patient had an extremely elevated serum ferritin but a normal C-reactive protein level,which was unparallel with the inflammatory condition before she received any treatments.Second,the diagnosis of systemic lupus erythematosus seemed to be insufficient according to the patient’s medical information presented,most of which were not specific to lupus but could be explained by macrophage activity syndrome.Hence,more medical information on the patient should be provided,and a profound discussion needs to be addressed.
文摘Background: Systemic lupus erythematosis (SLE) is a disorder with multiple organ involvement. Haematological abnormalities have been addressed in it, but acquired von Willebrand syndrome is a rarer phenomenon in current disease. The Case: We report acquired von Willebrand syndrome and SLE in a man with brown rash on face, gingival bleeding, easy bruising and epistaxis and laboratory finding of decreased complement, high level of anti-nuclear antibody and anti-DNA. These findings confirmed the diagnosis of SLE. He underwent kidney biopsy and experienced severe pain at the site of biopsy, but the ultra-sonography evaluation showed small sub capsular haematoma at the site of biopsy. During the next 48 hours, gradually APTT prolongation was continued and haematocrit dropped. In spite of FFP infusion and taking tranexamic acid every eight hours, there wasn’t any improvement in haemostatic condition. He received Methylprednisolone and Cyclophosphamid pulses. The patient underwent surgery to roll out vascular complication, but there wasn’t any vascular problem. On the third day, recombinant activated factor VII was infused every two hours until oozing was stopped.
文摘Aim: We aimed to investigate whether the agonists for liver X receptor (LXR) ameliorate lupus-like phenotypes in mice mediated by the clearance of apoptotic cells, and compare with peroxisome proliferator-activated receptor (PPAR) γ plus PPARδ agonists, which also facilitate the clearance of apoptotic cells and exert anti-inflammatory effects in systemic lupus erythematosus (SLE). Methods: We investigated the efficacy of LXR agonist (GW3965) or dual treatment of PPARγ (pioglitazone) and PPARδ (GW0742) agonists in SLE animal models, female MRL/MpJ-Fas/J mice and BALB/cAJcl mice treated with pristane. The data were analyzed with one-way analysis of variance and Tukey’s honestly significant difference tests. Results: The treatment with LXR or PPARγ/δ agonists did not significantly alter the swelling of lymph nodes, ds-DNA production, albuminuria, histological score of glomerular lesions, and mRNA expression of target genes including Abca1, C1qa, Icam1, Mertk and Tnf. Conclusion: LXR or PPARγ/δ agonists targeting the impaired clearance for apoptosis cells may not be efficient in the remission induction therapy in SLE.
文摘Introduction:Despite the medical and scientific advances,the disease’s restrictions and the perception of personal and social losses related to its course reinforce fear and generate intense suffering in lupus patients.Psychiatric comorbidities,especially major depressive episodes,are highly prevalent during systemic lupus erythematosus.Among them,suicide is a behavior that is much more common than we believe.Objective:To perform a narrative review on suicidal behavior associated with systemic erythematosus lupus(SLE).Results:Studies have shown an increased risk of suicide among patients with chronic diseases and psychiatric disorders,especially depression.However,suicide cannot be attributed only to a higher prevalence of depression and other mental illnesses.Therefore,it is necessary to learn more about the suicide risk factors present in patients with lupus to work on secondary prevention and avoid the premature loss of lives and the additional suffering of families and surrounding communities.The coordination between the studies on suicidal behavior and its intricate network of individual and sociocultural factors and the studies on this multisystem autoimmune disease with a broad manifestation spectrum,lupus,creates new and essential field research.Conclusions:Non-psychiatrist office-based physicians,health clinics,or wards dedicated to the treatment of SLE should recognize and handle the suicide risk factors on their patients to reduce the suffering caused by this disease.
文摘Objective:To evaluate the effects of rituximab versus mycophenolate mofetil or cyclophosphamide as control in lupus nephritis by meta-analysis.Methods:A systematic search was carried out up to January 2022,obtaining 7 studies involving 645 participants with lupus nephritis at the commencement of the investigation;198 of them were treated with rituximab,while 447 were treated with mycophenolate mofetil or cyclophosphamide.We determined the odds ratio(OR)and mean difference(MD)with 95%confidence index(CI)to compare rituximab’s efficacy to that of mycophenolate mofetil or cyclophosphamide as control in lupus nephritis using random-or fixed-effects model by dichotomous or continuous techniques.Results:The rituximab group showed significantly higher complete renal remission rate(OR=2.52;95%CI 1.30-4.91,P=0.006)and total renal remission rates(OR=2.22;95%CI 1.36-3.63,P=0.001)than the control group.However,there was no significant difference in terms of end Systemic Lupus Erythematosus Disease Activity Index(SLEDAI)score(MD-1.16;95%CI-2.88-0.57,P=0.19),proteinuria(MD-0.31;95%CI-0.70-0.09,P=0.013),and serum creatinine(MD 0.01;95%CI-0.04-0.07,P=0.64)between the rituximab group and the control.Conclusion:Rituximab exhibited significantly greater complete renal remission rate and total renal remission rates,with no significant difference in terms of shorter-end SLEDAI,proteinuria,and serum creatinine,compared with the control in individuals with lupus nephritis.
文摘BACKGROUND The inverse association between systemic immune-inammation index(SII)and overall survival in tumors has been studied.AIM To evaluate the hematological indexes for assessing the activity of ulcerative colitis(UC).METHODS In this case-control study,172 UC patients and healthy participants were included.Comparisons were made among groups of white blood cells,hemoglobin,platelets,neutrophils,lymphocytes,monocytes,SII,neutrophil-tolymphocyte ratio(NLR),and platelet-to-lymphocyte ratio(PLR).The relationship with hematological inflammation was verified by Spearman correlation analyses.The efficiency of SII,NLR,and PLR for distinguishing between UC and severe disease status was assessed by the receiver operator curve and logistic regression analyses.RESULTS The values of SII,NLR,and PLR were higher in UC patients than in controls(P<0.001)and were positively correlated with the Mayo endoscopic score,extent,Degree of Ulcerative Colitis Burden of Luminal Inflammation(DUBLIN)score,and Ulcerative Colitis Endoscopic Index of Severity(UCEIS).The cut-off NLR value of 562.22 predicted UC with a sensitivity of 79.65%and a specificity of 76.16%.Logistic regression analysis revealed that patients with SII and NLR levels above the median had a significantly higher risk of UC(P<0.05).Risk factors independently associated with DUBLIN≥3 included SII≥1776.80[odds ratio(OR)=11.53,P=0.027]and NLR value of 2.67-4.23(OR=2.96,P=0.047)on multivariate analysis.Compared with the first quartile,SII≥1776.80 was an independent predictor of UCEIS≥5(OR=18.46,P=0.012).CONCLUSION SII has a certain value in confirming UC and identifying its activity.
基金Supported by Grants TáMOP-4.2.1./B-09/1/KONV and 4.2.2-08/1-2008-0002 (partly)
文摘AIM: To investigate the association between autoimmune pancreatitis (AIP) and systemic autoimmune diseases (SAIDs) by measurement of serum immunoglobulin G4 (IgG4). METHODS: The serum level of IgG4 was measured in 61 patients with SAIDs of different types who had not yet participated in glucocorticosteroid treatment. Patients with an elevated IgG4 level were examined by abdominal ultrasonography (US) and, in some cases, by computer tomography (CT). RESULTS: Elevated serum IgG4 levels (919 ± 996 mg/L) were detected in 17 (28%) of the 61 SAID patients. 10 patients had Sj gren's syndrome (SS) (IgG4: 590 ± 232 mg/L), 2 of them in association with Hashimoto's thyroiditis, and 7 patients (IgG4: 1388 ± 985.5 mg/L) had systemic lupus erythematosus (SLE). The IgG4 level in the SLE patients and that in patients with SS were not significantly different from that in AIP patients (783 ± 522 mg/L). Abdominal US and CT did not reveal any characteristic features of AIP among the SAID patients with an elevated IgG4 level. CONCLUSION: The serum IgG4 level may be elevated in SAIDs without the presence of AIP. The determination of serum IgG4 does not seem to be suitable for the differentiation between IgG4-related diseases and SAIDs.
文摘Kikuchi-Fujimoto disease,a rare form of necrotizing lymphadenitis,is an uncommon,benign,self-limiting disorder of obscure etiology.It affects mostly young adults of both genders.Clinically,it presents with fever and lymphadenopathy of a firm to rubbery consistency frequently involving cervical lymph nodes while weight loss,splenomegaly,leucopenia,and elevated erythrocyte sedimentation rate feature in severely affected patients.Cutaneous involvement occurs in about 30%-40%of cases as facial erythema and nonspecific erythematous papules,plaques,acneiform or morbilliform lesions of great histologic heterogeneity.Both Kikuchi-Fujimoto disease and systemic lupus erythematosus share an obscure and complex relationship as systemic lupus erythematosus may occasionally precede,develop subsequently,or sometimes be associated concurrently with Kikuchi-Fujimoto disease.It is often mistaken for non-Hodgkin lymphoma while lupus lymphadenitis,cat-scratch disease,Sweet’s syndrome,Still’s disease,drug eruptions,infectious mononucleosis,and viral or tubercular lymphadenitis are other common differentials.Fine needle aspiration cytology mostly has features of nonspecific reactive lymphadenitis and immunohistochemistry studies usually show variable features of uncertain diagnostic value.Since its diagnosis is exclusively from histopathology,it needs to be evaluated more carefully;an early lymph node biopsy will obviate the need for unnecessary investigations and therapeutic trials.Its treatment with systemic corticosteroids,hydroxychloroquine,or antimicrobial agents mostly remains empirical.The article reviews clinicoepidemiological,diagnostic,and management aspects of KFD from the perspective of practicing clinicians.
文摘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.
文摘<strong>Introduction:</strong> Systemic Autoimmune Diseases (SAID) long considered very rare in Africa are increasingly the subject of publications. The objective of this work is to identify the difficulties in the management of these pathologies in an internal medicine department in northern Senegal by analyzing the epidemiological, clinical-biological, therapeutic and evolutionary aspects of SAID. <strong>Methods:</strong> This was a descriptive cross-sectional study carried out in the internal medicine department of the Saint-Louis University Hospital Center. Included were all the files of patients followed in outpatient and/or hospitalization for autoimmune diseases according to the criteria of the American College of Rheumatology, during the period from January 2017 to December 2020. The data were analyzed using SPSS software version 21.0. As the study was descriptive, no statistical test was performed. <strong>Results: </strong>Out of 3800 patients, 70 presented SAID, <i>i.e. </i> a hospital prevalence of 1.8%. Polyarthritis was the first reason for consultation in 97% followed by skin manifestations in 8%. The patients had positive anti-nuclear autoantibodies in 88% of cases. Rheumatoid arthritis was the predominant condition (71%) followed by systemic lupus erythematosus (SLE) (15%) and undifferentiated autoimmune diseases in 10%. Eleven percent (11%) of patients had an associated autoimmune disease. Corticosteroids were used in the treatment of these conditions in 97% of cases and methotrexate was the most prescribed immunosuppressant (54%). Thirty-two percent (32%) of patients are lost to follow-up. <strong>Conclusion:</strong> SAID are diverse and under diagnosed;they are characterized by diagnostic delay above all linked to access to specialists and sometimes to the high cost of paraclinical examinations, in particular immunology. Treatment remains based primarily on corticosteroid therapy and conventional immunosuppressants in the face of the unavailability of biotherapies.
文摘BACKGROUND The IFIH1 gene codes the MDA5 protein and the DDX58 gene codes the RIG-I receptor.Both proteins are parts of the interferon(IFN)I signaling pathway and are responsible for antiviral defense and innate immune response.IFIH1 and DDX58 polymorphisms are associated with a spectrum of autoimmune diseases.Rare gain-of-function IFIH1 mutations have been found in Singleton-Merten and Aicardi-Goutières syndrome,while DDX58 mutation can cause atypical Singleton-Merten syndrome.AIM To characterize children with pediatric rheumatic diseases(PRD)carrying DDX58 or IFIH1 variants.METHODS Clinical exome sequencing was performed on 92 children with different PRD.IFIH1 and DDX58 variants have been detected in 14 children.IFN-I score has been analyzed and the clinical characteristics of patients have been studied.RESULTS A total of seven patients with systemic lupus erythematosus(SLE)(n=2),myelodysplastic syndrome with SLE features at the onset of the disease(n=1),mixed connective tissue disease(MCTD)(n=1),undifferentiated systemic autoinflammatory disease(uSAID)(n=3)have 5 different variants of the DDX58 gene.A common non-pathogenic variant p.D580E has been found in five children.A rare variant of uncertain significance(VUS)p.N354S was found in one patient with uSAID,a rare likely non-pathogenic variant p.E37K in one patient with uSAID,and a rare likely pathogenic variant p.Cys864fs in a patient with SLE.Elevated IFN-I score was detected in 6 of 7 patients with DDX58 variants.Seven patients had six different IFIH1 variants.They were presented with uSAID(n=2),juvenile dermatomyositis(JDM)(n=1),SLElike disease(n=1),Periodic fever with aphthous stomatitis,pharyngitis,and adenitis syndrome(n=1),and systemic onset juvenile idiopathic arthritis(n=1).Three patients have VUS p.E627X,one patient has benign variant p.I923V.Rare VUS p.R595H was detected in the JDM patient.Another rare VUS p.L679Ifs*2 and previously not reported variant p.V599Ffs*5 were detected in the patient with uSAID.One patient with uSAID has rare VUS p.T520A.All patients had elevated IFN-I scores.CONCLUSION Rare compound-heterozygous IFIH1 variant(p.L679Ifs*2 and p.V599Ffs*5),heterozygous IFIH1 variant(p.T520A)and heterozygous DDX58 variant(p.Cys864fs)are probably disease causative for uSAID and SLE.The majority of patients with different DDX58 and IFI1 variants had hyperactivation of the IFN I signaling pathway.
