Objective: We aim to investigate the potential roles of key genes in the development of lupus nephritis (LN), screen key biomarkers, and construct the lncRNA XIST/miR-381-3P/STAT1 axis by using bioinformatic prediction combined with clinical validation, thereby providing new targets and insights for clinical research.
Methods: Gene expression microarrays GSE157293 and GSE112943 were downloaded from the GEO database to obtain differentially expressed genes (DEGs), followed by enrichment analyses on these DEGs, which were enriched and analyzed to construct a protein-protein interaction (PPI) network to screen core genes. The lncRNA-miRNA-mRNA regulatory network was predicted and constructed based on the miRNA database. 37 female patients with systemic lupus erythematosus (SLE) were recruited to validate the bioinformatics results by exploring the diagnostic value of the target ceRNA axis in LN by dual luciferase and real-time fluorescence quantitative PCR (RT-qPCR) and receiver operating characteristic (ROC).
Results: The data represented that a total of 133 differential genes were screened in the GSE157293 dataset and 2869 differential genes in the GSE112943 dataset, yielding a total of 26 differentially co-expressed genes. Six core genes (STAT1, OAS2, OAS3, IFI44, DDX60, and IFI44L) were screened. Biological functional analysis identified key relevant pathways in LN. ROC curve analysis suggested that lncRNA XIST, miR-381-3P, and STAT1 could be used as potential molecular markers to assist in the diagnosis of LN.
Conclusion: STAT1 is a key gene in the development of LN. In conclusion, lncRNA XIST, miR-381-3P, and STAT1 can be used as new molecular markers to assist in the diagnosis of LN, and the lncRNA XIST/miR-381-3P/STAT1 axis may be a potential therapeutic target for LN.
{"title":"LncRNA XIST/miR-381-3P/STAT1 axis as a potential biomarker for lupus nephritis.","authors":"Junjie Chen, Ming Li, Shuangshuang Shang, Lili Cheng, Zhongfu Tang, Chuanbing Huang","doi":"10.1177/09612033241273072","DOIUrl":"10.1177/09612033241273072","url":null,"abstract":"<p><strong>Objective: </strong>We aim to investigate the potential roles of key genes in the development of lupus nephritis (LN), screen key biomarkers, and construct the lncRNA XIST/miR-381-3P/STAT1 axis by using bioinformatic prediction combined with clinical validation, thereby providing new targets and insights for clinical research.</p><p><strong>Methods: </strong>Gene expression microarrays GSE157293 and GSE112943 were downloaded from the GEO database to obtain differentially expressed genes (DEGs), followed by enrichment analyses on these DEGs, which were enriched and analyzed to construct a protein-protein interaction (PPI) network to screen core genes. The lncRNA-miRNA-mRNA regulatory network was predicted and constructed based on the miRNA database. 37 female patients with systemic lupus erythematosus (SLE) were recruited to validate the bioinformatics results by exploring the diagnostic value of the target ceRNA axis in LN by dual luciferase and real-time fluorescence quantitative PCR (RT-qPCR) and receiver operating characteristic (ROC).</p><p><strong>Results: </strong>The data represented that a total of 133 differential genes were screened in the GSE157293 dataset and 2869 differential genes in the GSE112943 dataset, yielding a total of 26 differentially co-expressed genes. Six core genes (STAT1, OAS2, OAS3, IFI44, DDX60, and IFI44L) were screened. Biological functional analysis identified key relevant pathways in LN. ROC curve analysis suggested that lncRNA XIST, miR-381-3P, and STAT1 could be used as potential molecular markers to assist in the diagnosis of LN.</p><p><strong>Conclusion: </strong>STAT1 is a key gene in the development of LN. In conclusion, lncRNA XIST, miR-381-3P, and STAT1 can be used as new molecular markers to assist in the diagnosis of LN, and the lncRNA XIST/miR-381-3P/STAT1 axis may be a potential therapeutic target for LN.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141913155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01Epub Date: 2024-09-06DOI: 10.1177/09612033241281042
Hanri Gerber, Robert Freercks
Objective: In Africa, the treatment outcomes of lupus nephritis (LN) are not well known. This is especially true in the current era where contemporary treatment options are more widely available. This retrospective study aimed to measure the outcomes of biopsy-proven LN treated at the Livingstone Tertiary Hospital (LTH) Renal Unit in Gqeberha (formerly Port Elizabeth), South Africa and to identify predictors of a poor outcome.
Methods: A retrospective cohort study of 131 patients with biopsy-proven LN who had a kidney biopsy between 01 January 2012 to 31 December 2021 as identified from the biopsy register. A sub-analysis of 107 patients with proliferative and/or membranous LN was performed.
Results: Mean age was 31.4 ± 12.7 years with a female predominance of 86.3%. At 6-month follow-up, 69.6% of patients had complete or partial response to treatment. This increased to 70.3% and 72.6% at 18 and 30 months, respectively. Twenty-seven patients were lost to follow-up, while 7 (5.3%) patients progressed to kidney failure (KF). There were 3 (2.3%) deaths. Predictors of poor response were an elevated baseline serum creatinine (OR = 2.53, 95% CI 0.99 - 6.52, p = .054), a decreased eGFR (OR = 2.92, 95% CI 0.94 - 9.09, p = .065) and an elevated blood pressure (OR = 6.06, 95% CI 1.11 - 33.33, p = .038) at the time of biopsy. Infections were the most common adverse event with 50 infections seen in 39 (29.8%) patients. Herpes viral infections were frequently noted (n = 12) accounting for 24.0% of all documented infections.
Conclusion: Response rates were similar in this cohort when compared to other contemporary studies. Predictors of poor response were an elevated baseline serum creatinine, a decreased eGFR and an elevated blood pressure at time of the biopsy. Infections were the most common occurring adverse event, although the mortality rate remained low at 2.3%.
{"title":"Characteristics and outcomes of biopsy-proven lupus nephritis in the Eastern Cape province of South Africa.","authors":"Hanri Gerber, Robert Freercks","doi":"10.1177/09612033241281042","DOIUrl":"10.1177/09612033241281042","url":null,"abstract":"<p><strong>Objective: </strong>In Africa, the treatment outcomes of lupus nephritis (LN) are not well known. This is especially true in the current era where contemporary treatment options are more widely available. This retrospective study aimed to measure the outcomes of biopsy-proven LN treated at the Livingstone Tertiary Hospital (LTH) Renal Unit in Gqeberha (formerly Port Elizabeth), South Africa and to identify predictors of a poor outcome.</p><p><strong>Methods: </strong>A retrospective cohort study of 131 patients with biopsy-proven LN who had a kidney biopsy between 01 January 2012 to 31 December 2021 as identified from the biopsy register. A sub-analysis of 107 patients with proliferative and/or membranous LN was performed.</p><p><strong>Results: </strong>Mean age was 31.4 ± 12.7 years with a female predominance of 86.3%. At 6-month follow-up, 69.6% of patients had complete or partial response to treatment. This increased to 70.3% and 72.6% at 18 and 30 months, respectively. Twenty-seven patients were lost to follow-up, while 7 (5.3%) patients progressed to kidney failure (KF). There were 3 (2.3%) deaths. Predictors of poor response were an elevated baseline serum creatinine (OR = 2.53, 95% CI 0.99 - 6.52, <i>p</i> = .054), a decreased eGFR (OR = 2.92, 95% CI 0.94 - 9.09, <i>p</i> = .065) and an elevated blood pressure (OR = 6.06, 95% CI 1.11 - 33.33, <i>p</i> = .038) at the time of biopsy. Infections were the most common adverse event with 50 infections seen in 39 (29.8%) patients. Herpes viral infections were frequently noted (<i>n</i> = 12) accounting for 24.0% of all documented infections.</p><p><strong>Conclusion: </strong>Response rates were similar in this cohort when compared to other contemporary studies. Predictors of poor response were an elevated baseline serum creatinine, a decreased eGFR and an elevated blood pressure at time of the biopsy. Infections were the most common occurring adverse event, although the mortality rate remained low at 2.3%.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11437693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142143134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01Epub Date: 2024-08-04DOI: 10.1177/09612033241273023
Sofia Flouda, Evgenia Emmanouilidou, Anastasios Karamanakos, Dimitra Koumaki, Dimitrios Katsifis-Nezis, Argyro Repa, George Bertsias, Dimitrios Boumpas, Antonis Fanouriakis
Objective: Skin involvement is common in systemic lupus erythematosus (SLE), but may be resistant to conventional treatment. We sought to evaluate the efficacy of anifrolumab (ANI) in refractory cutaneous manifestations of SLE.
Methods: Case series of patients with refractory cutaneous SLE from three Rheumatology Departments in Greece. Outcome measures were improvement in Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K), physician global assessment (PGA) and Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI). Clinically relevant improvement in skin was defined as decrease ≥50% (CLASI50) from baseline values.
Results: Eighteen patients received ANI; all had active skin involvement at baseline. Mean (SD) SLEDAI and PGA at ANI initiation were 7.4 (2.7) and 1.4 (0.5), respectively, with a mean prednisone dose 4.9 (4.5) mg/day. Mean CLASI (Activity/Damage) at baseline was 13.9 (9.7)/2.9 (4.6). Patients were refractory to a mean 6.3 (1.5) immunomodulatory agents (including hydroxychloroquine and glucocorticoids) before the initiation of ANI. After a mean 8.5 (4.6) months, 89% (n = 16/18) of patients demonstrated significant improvement in general lupus and cutaneous disease activity, and glucocorticoid tapering. Mean SLEDAI and mean CLASI at last visit were 3.4 (1.9) and 2.1 (2.4)/1.4 (2.2), respectively, and mean daily prednisone dose decreased to 2.4 (2.2). Of note, in this group of highly refractory patients CLASI50 was achieved in 16/18 (89%) patients. One patient discontinued ANI after 4 infusions due to a varicella-zoster virus infection and one patient, who initially responded to treatment with ANI, experienced a skin flare due to temporary discontinuation due to Covid 19 infection. DORIS remission and LLDAS were attained in two (11.1%) and eleven (61.1%) patients, respectively.
Conclusion: Anifrolumab is highly effective in various skin manifestations of SLE, even after prior failure to multiple treatments.
{"title":"Anifrolumab for systemic lupus erythematosus with multi-refractory skin disease: A case series of 18 patients.","authors":"Sofia Flouda, Evgenia Emmanouilidou, Anastasios Karamanakos, Dimitra Koumaki, Dimitrios Katsifis-Nezis, Argyro Repa, George Bertsias, Dimitrios Boumpas, Antonis Fanouriakis","doi":"10.1177/09612033241273023","DOIUrl":"10.1177/09612033241273023","url":null,"abstract":"<p><strong>Objective: </strong>Skin involvement is common in systemic lupus erythematosus (SLE), but may be resistant to conventional treatment. We sought to evaluate the efficacy of anifrolumab (ANI) in refractory cutaneous manifestations of SLE.</p><p><strong>Methods: </strong>Case series of patients with refractory cutaneous SLE from three Rheumatology Departments in Greece. Outcome measures were improvement in Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K), physician global assessment (PGA) and Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI). Clinically relevant improvement in skin was defined as decrease ≥50% (CLASI50) from baseline values.</p><p><strong>Results: </strong>Eighteen patients received ANI; all had active skin involvement at baseline. Mean (SD) SLEDAI and PGA at ANI initiation were 7.4 (2.7) and 1.4 (0.5), respectively, with a mean prednisone dose 4.9 (4.5) mg/day. Mean CLASI (Activity/Damage) at baseline was 13.9 (9.7)/2.9 (4.6). Patients were refractory to a mean 6.3 (1.5) immunomodulatory agents (including hydroxychloroquine and glucocorticoids) before the initiation of ANI. After a mean 8.5 (4.6) months, 89% (<i>n</i> = 16/18) of patients demonstrated significant improvement in general lupus and cutaneous disease activity, and glucocorticoid tapering. Mean SLEDAI and mean CLASI at last visit were 3.4 (1.9) and 2.1 (2.4)/1.4 (2.2), respectively, and mean daily prednisone dose decreased to 2.4 (2.2). Of note, in this group of highly refractory patients CLASI50 was achieved in 16/18 (89%) patients. One patient discontinued ANI after 4 infusions due to a varicella-zoster virus infection and one patient, who initially responded to treatment with ANI, experienced a skin flare due to temporary discontinuation due to Covid 19 infection. DORIS remission and LLDAS were attained in two (11.1%) and eleven (61.1%) patients, respectively.</p><p><strong>Conclusion: </strong>Anifrolumab is highly effective in various skin manifestations of SLE, even after prior failure to multiple treatments.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01DOI: 10.1177/09612033241280548
Alex Domínguez-Vargas, Henry González-Torres, Álvaro Martínez-Bayona, María Sanguino-Jaramillo, María Vélez-Verbel, Andrés Cadena-Bonfanti, Carlos Guido Musso, Santos Depine, Eduardo Egea, Gustavo Aroca-Martínez
Background: As with many other chronic diseases, systemic lupus erythematosus (SLE) and lupus nephritis (LN) have significant impacts on the health-related quality of life (HRQoL). Medication non-adherence is a significant challenge in the management of SLE, with consistently up to 75% of patients being non-adherent with their SLE medications. There is a need to assess the patient's perspective using patient-reported outcomes (PROs) to better understand the current impact of LN on HRQoL and treatment adherence in our region. The aim of this study was to explore the relationship between HRQoL and treatment adherence in patients with LN from the Colombian Caribbean.
Methods: A cross-sectional study was conducted from June to December 2022, including patients with biopsy-proven LN. HRQoL and treatment adherence were assessed using the Lupus Quality of Life (LupusQoL) and the Compliance Questionnaire in Rheumatology 19 (CQR19) instruments, respectively. Patients were categorized as adherent or non-adherent based on medication intake (defined as >80% correct dosage). Principal component analysis (PCA) was employed to identify principal components between adherent and non-adherent patients.
Results: A total of 42 patients with LN were included. Of these, 38 (90%) were female, and the mean age was 31 ± 10 years. Proliferative class IV was the predominant histopathological profile (90%). Twenty-five (60%) patients were categorized as non-adherent. Across all LupusQoL domains, a comprehensive range of responses was observed. Pain, planning, and intimate relationships domains remained unaffected, while burden to others domain had the lowest score. Poorer planning score correlated with older age (r = -0.72; p < .05) and longer disease duration (r = -0.74; p < .05). SLEDAI-2 K correlated with the pain domain (r = -0.78; p < .05). Non-adherent patients exhibited significantly worse pain domain scores compared to adherent counterparts (p < .05). PCA showed strong interactions between planning and pain, as well as between physical health and body image domains.
Conclusions: LupusQoL pain domain scores were significantly worse in non-adherent patients compared to adherent patients. Effective pain management could be a determinant in HRQoL and treatment adherence rates in our population.
{"title":"Treatment adherence and quality of life in colombian patients with lupus nephritis.","authors":"Alex Domínguez-Vargas, Henry González-Torres, Álvaro Martínez-Bayona, María Sanguino-Jaramillo, María Vélez-Verbel, Andrés Cadena-Bonfanti, Carlos Guido Musso, Santos Depine, Eduardo Egea, Gustavo Aroca-Martínez","doi":"10.1177/09612033241280548","DOIUrl":"https://doi.org/10.1177/09612033241280548","url":null,"abstract":"<p><strong>Background: </strong>As with many other chronic diseases, systemic lupus erythematosus (SLE) and lupus nephritis (LN) have significant impacts on the health-related quality of life (HRQoL). Medication non-adherence is a significant challenge in the management of SLE, with consistently up to 75% of patients being non-adherent with their SLE medications. There is a need to assess the patient's perspective using patient-reported outcomes (PROs) to better understand the current impact of LN on HRQoL and treatment adherence in our region. The aim of this study was to explore the relationship between HRQoL and treatment adherence in patients with LN from the Colombian Caribbean.</p><p><strong>Methods: </strong>A cross-sectional study was conducted from June to December 2022, including patients with biopsy-proven LN. HRQoL and treatment adherence were assessed using the Lupus Quality of Life (LupusQoL) and the Compliance Questionnaire in Rheumatology 19 (CQR19) instruments, respectively. Patients were categorized as adherent or non-adherent based on medication intake (defined as >80% correct dosage). Principal component analysis (PCA) was employed to identify principal components between adherent and non-adherent patients.</p><p><strong>Results: </strong>A total of 42 patients with LN were included. Of these, 38 (90%) were female, and the mean age was 31 ± 10 years. Proliferative class IV was the predominant histopathological profile (90%). Twenty-five (60%) patients were categorized as non-adherent. Across all LupusQoL domains, a comprehensive range of responses was observed. Pain, planning, and intimate relationships domains remained unaffected, while burden to others domain had the lowest score. Poorer planning score correlated with older age (r = -0.72; <i>p</i> < .05) and longer disease duration (r = -0.74; <i>p</i> < .05). SLEDAI-2 K correlated with the pain domain (r = -0.78; <i>p</i> < .05). Non-adherent patients exhibited significantly worse pain domain scores compared to adherent counterparts (<i>p</i> < .05). PCA showed strong interactions between planning and pain, as well as between physical health and body image domains.</p><p><strong>Conclusions: </strong>LupusQoL pain domain scores were significantly worse in non-adherent patients compared to adherent patients. Effective pain management could be a determinant in HRQoL and treatment adherence rates in our population.</p>","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1177/09612033241281783
Xiaoning Luo, Juanhua Du, Jinjun Zhao, Meida Fan, Xin Luo, Peijin Zhao, Ping Zheng, Liqian Mo, Yilei Li
ObjectiveThis study aims to explore possible susceptibility genes and clinical features for systemic lupus erythematosus (SLE) patients in a Chinese population.MethodsExpanding on the results of a prior single-center observational study involving 60 systemic lupus erythematosus patients, a subsequent single-center prospective observational study was conducted on SLE patients undergoing treatment at Nanfang Hospital Affiliated to Southern Medical University from 2021 to 2023. The identification process for drug-related target genes entailed an extensive search across PharmGKB ( https://www.pharmgkb.org/ ), the Clinical Pharmacogenetics Implementation Consortium (CPIC),and PubMed literature databases, to pinpoint common drugs and target single nucleotide polymorphisms(SNPs)for SLE. Blood samples were individually collected and genotyped using MassARRAY® high-throughput nucleic acid mass spectrometry. Genotype frequency differences were assessed through Chi-square tests against both the larger East Asian population as well as kidney transplant recipients. Data collection relied on electronic medical records, encompassing demographic details(age, gender),medication regimens(hormones, NSAIDs, hydroxychloroquine, DMARDs, biologic agents, stomach medications, calcitriol, etc.),laboratory indicators(RF, Anti-CCP antibody, ESR, CRP, anti-ANA antibodies, dsDNA antibodies, anti-SM antibodies, S m. RNP antibodies, A LT, ALB, CR, UA, WBC, PLT, HGB, Ca, K, Glu, CHOL, TG, LDL-C, HDL-C) and lupus activity scores(SLEDAI-2K). Possible disease susceptibility genes were categorized, and SPSS26 software facilitated statistical analyses.ResultsThe research encompassed a total of 137 SLE patients along with 50 SNPs. After conducting statistical analyses, it emerged that there existed significant disparities in CYP2D6 gene (rs1065852) distribution when compared against allele mutation rates within both East Asian populations ( p < .05) and kidney transplant patients( p < .05). Wild-type gene (GG) constituted 14% of cases while mutant gene (GA + AA) constituted 86%. Allele mutation rate (A63.6%) was significantly higher among SLE patients (RR = 0.802; p = .0355). Furthermore, the variant rs1065852 genotype (GA + AA) demonstrated significant associations with lower CRP levels, higher HGB levels, and higher HDL-C levels ( p < 0 0.05).ConclusionThe metabolic enzyme CYP2D6 may be used as susceptibility gene for predicting systemic lupus erythematosus and are correlated with CRP and other indicators.
{"title":"Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population","authors":"Xiaoning Luo, Juanhua Du, Jinjun Zhao, Meida Fan, Xin Luo, Peijin Zhao, Ping Zheng, Liqian Mo, Yilei Li","doi":"10.1177/09612033241281783","DOIUrl":"https://doi.org/10.1177/09612033241281783","url":null,"abstract":"ObjectiveThis study aims to explore possible susceptibility genes and clinical features for systemic lupus erythematosus (SLE) patients in a Chinese population.MethodsExpanding on the results of a prior single-center observational study involving 60 systemic lupus erythematosus patients, a subsequent single-center prospective observational study was conducted on SLE patients undergoing treatment at Nanfang Hospital Affiliated to Southern Medical University from 2021 to 2023. The identification process for drug-related target genes entailed an extensive search across PharmGKB ( https://www.pharmgkb.org/ ), the Clinical Pharmacogenetics Implementation Consortium (CPIC),and PubMed literature databases, to pinpoint common drugs and target single nucleotide polymorphisms(SNPs)for SLE. Blood samples were individually collected and genotyped using MassARRAY® high-throughput nucleic acid mass spectrometry. Genotype frequency differences were assessed through Chi-square tests against both the larger East Asian population as well as kidney transplant recipients. Data collection relied on electronic medical records, encompassing demographic details(age, gender),medication regimens(hormones, NSAIDs, hydroxychloroquine, DMARDs, biologic agents, stomach medications, calcitriol, etc.),laboratory indicators(RF, Anti-CCP antibody, ESR, CRP, anti-ANA antibodies, dsDNA antibodies, anti-SM antibodies, S m. RNP antibodies, A LT, ALB, CR, UA, WBC, PLT, HGB, Ca, K, Glu, CHOL, TG, LDL-C, HDL-C) and lupus activity scores(SLEDAI-2K). Possible disease susceptibility genes were categorized, and SPSS26 software facilitated statistical analyses.ResultsThe research encompassed a total of 137 SLE patients along with 50 SNPs. After conducting statistical analyses, it emerged that there existed significant disparities in CYP2D6 gene (rs1065852) distribution when compared against allele mutation rates within both East Asian populations ( p < .05) and kidney transplant patients( p < .05). Wild-type gene (GG) constituted 14% of cases while mutant gene (GA + AA) constituted 86%. Allele mutation rate (A63.6%) was significantly higher among SLE patients (RR = 0.802; p = .0355). Furthermore, the variant rs1065852 genotype (GA + AA) demonstrated significant associations with lower CRP levels, higher HGB levels, and higher HDL-C levels ( p < 0 0.05).ConclusionThe metabolic enzyme CYP2D6 may be used as susceptibility gene for predicting systemic lupus erythematosus and are correlated with CRP and other indicators.","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ObjectiveSystemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organs, notably the skin, joints, and kidneys. The primary goal in managing SLE is to enhance patients’ quality of life (QoL). Illness perception can influence QoL in patients with chronic disease. We assessed illness perception in juvenile SLE (jSLE) patients and its effect on patient’s and parental QoL.MethodPatients diagnosed with jSLE according to the SLICC 2012 criteria between January and November 2023 were included. Patients’ illness perceptions were gaged using the brief illness perception questionnaire (B-IPQ), while patient’s and parental QoL were evaluated using PedsQL and WHOQOL- BREF, respectively.ResultsThe study comprised 32 patients and 32 parents, predominantly female (78.1%). Musculoskeletal involvement was the most common (65.6%), followed by mucocutaneous (59.4%), renal, and hematological involvement (50% each). Neuropsychiatric involvement was absent. The median SLEDAI-2K score at the last outpatient clinic visit, which was documented in the patient’s file was 2 (0–18) and was not correlated with the B-IPQ score (r = 0.121, p = .51). A significant negative correlation was found between B-IPQ and patient QoL, indicating poorer QoL in patients with negative illness perceptions (r = −0.576, p < .001). No correlation was observed between parental QoL and B-IPQ ( p => .05). Of note, 56.3% of patients had poor QoL, scoring below the PedsQL cut-off, while 43.8% of parents had poor QoL for general health, scoring below the WHOQOL-BREF cut-off for general health.ConclusionAlthough disease perception did not correlate with disease activation in jSLE, it significantly impacted patient QoL. Enhancing patients’ perceptions of jSLE may improve their overall QoL.
目的系统性红斑狼疮(SLE)是一种慢性自身免疫性疾病,会影响多个器官,尤其是皮肤、关节和肾脏。治疗系统性红斑狼疮的首要目标是提高患者的生活质量(QoL)。疾病感知会影响慢性病患者的生活质量。我们评估了青少年系统性红斑狼疮(jSLE)患者的疾病认知及其对患者和家长生活质量的影响。采用简短疾病认知问卷(B-IPQ)评估患者的疾病认知,并分别采用 PedsQL 和 WHOQOL- BREF 评估患者和家长的 QoL。最常见的是肌肉骨骼受累(65.6%),其次是粘膜(59.4%)、肾脏和血液受累(各占 50%)。没有神经精神疾病。患者档案中记录的最后一次门诊就诊时的 SLEDAI-2K 评分中位数为 2(0-18),与 B-IPQ 评分无相关性(r = 0.121,p = 0.51)。B-IPQ 与患者 QoL 之间存在明显的负相关,表明对疾病有负面认知的患者 QoL 较差(r = -0.576,p <.001)。父母的 QoL 与 B-IPQ 之间没有相关性(p => .05)。值得注意的是,56.3% 的患者 QoL 较差,得分低于 PedsQL 临界值,而 43.8% 的家长 QoL 较差,得分低于 WHOQOL-BREF 临界值。提高患者对 jSLE 的认知可能会改善他们的整体 QoL。
{"title":"Impact of perception of illness on quality of life in juvenile systemic lupus erythematosus","authors":"Nihal Şahin, Kübra Uçak, Sıla Atamyıldız Uçar, Hafize Emine Sönmez, Betül Sözeri","doi":"10.1177/09612033241285622","DOIUrl":"https://doi.org/10.1177/09612033241285622","url":null,"abstract":"ObjectiveSystemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organs, notably the skin, joints, and kidneys. The primary goal in managing SLE is to enhance patients’ quality of life (QoL). Illness perception can influence QoL in patients with chronic disease. We assessed illness perception in juvenile SLE (jSLE) patients and its effect on patient’s and parental QoL.MethodPatients diagnosed with jSLE according to the SLICC 2012 criteria between January and November 2023 were included. Patients’ illness perceptions were gaged using the brief illness perception questionnaire (B-IPQ), while patient’s and parental QoL were evaluated using PedsQL and WHOQOL- BREF, respectively.ResultsThe study comprised 32 patients and 32 parents, predominantly female (78.1%). Musculoskeletal involvement was the most common (65.6%), followed by mucocutaneous (59.4%), renal, and hematological involvement (50% each). Neuropsychiatric involvement was absent. The median SLEDAI-2K score at the last outpatient clinic visit, which was documented in the patient’s file was 2 (0–18) and was not correlated with the B-IPQ score (r = 0.121, p = .51). A significant negative correlation was found between B-IPQ and patient QoL, indicating poorer QoL in patients with negative illness perceptions (r = −0.576, p < .001). No correlation was observed between parental QoL and B-IPQ ( p => .05). Of note, 56.3% of patients had poor QoL, scoring below the PedsQL cut-off, while 43.8% of parents had poor QoL for general health, scoring below the WHOQOL-BREF cut-off for general health.ConclusionAlthough disease perception did not correlate with disease activation in jSLE, it significantly impacted patient QoL. Enhancing patients’ perceptions of jSLE may improve their overall QoL.","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1177/09612033241285225
Buse Bor, Andrew J Doyle, John K Bartoli-Abdou, Anthony Hackett, Victoria Collings, Fatima Omrani, Carl Foskett, Anne Wareing, Johanna Young, Karen A Breen, Beverley J Hunt
IntroductionVitamin-K antagonists (VKA) are considered the first-line anticoagulants for thrombotic antiphospholipid syndrome (TAPS), particularly with triple positivity or arterial events. However, thrombotic recurrence remains high despite anticoagulation and other clinical issues may arise. Long-term parenteral anticoagulants may therefore be considered, however little is known about the viability of fondaparinux in this setting.Materials and MethodsWe describe the efficacy and safety of long-term fondaparinux for TAPS (>3-months duration) treated at a single centre in the UK. Clinical features and the outcomes of recurrence and bleeding were reviewed using electronic patient records.Results46 patients were identified with history of either venous or arterial TAPS and a total 175 patient-years using fondaparinux (median duration 2.7 years/patient (IQR 1.4–4.8)). 43 (93%) had VKA as first-line anticoagulation with a median duration of 6.5 years (IQR 4.0 – 9.8). All patients received fondaparinux as second-to fourth-line anticoagulation. Thrombosis recurrence occurred in 1 (1%) patient (0.6 events/100-patient years). Major, clinically relevant non-major (CRNM) or minor bleeding occurred in 2 (7%), 5 (10.9%) and 8 (17.4%) patients respectively. Major/CRNM bleeding rates were 1.1 and 2.9 events/100-patient-years. Age >65years was associated with bleeding ( p = .047) and concurrent antiplatelets were associated with major/CRNM bleeding ( p = .011). Logistic regression showed increasing age was associated with bleeding (OR = 1.097, p = .009).ConclusionsWe suggest that fondaparinux may be used for TAPS when VKA is not appropriate. Thrombotic recurrence was infrequent, and the number of major bleeding events appeared comparable to conventional therapies.
{"title":"Clinical outcomes of patients receiving long-term fondaparinux for thrombotic antiphospholipid syndrome","authors":"Buse Bor, Andrew J Doyle, John K Bartoli-Abdou, Anthony Hackett, Victoria Collings, Fatima Omrani, Carl Foskett, Anne Wareing, Johanna Young, Karen A Breen, Beverley J Hunt","doi":"10.1177/09612033241285225","DOIUrl":"https://doi.org/10.1177/09612033241285225","url":null,"abstract":"IntroductionVitamin-K antagonists (VKA) are considered the first-line anticoagulants for thrombotic antiphospholipid syndrome (TAPS), particularly with triple positivity or arterial events. However, thrombotic recurrence remains high despite anticoagulation and other clinical issues may arise. Long-term parenteral anticoagulants may therefore be considered, however little is known about the viability of fondaparinux in this setting.Materials and MethodsWe describe the efficacy and safety of long-term fondaparinux for TAPS (>3-months duration) treated at a single centre in the UK. Clinical features and the outcomes of recurrence and bleeding were reviewed using electronic patient records.Results46 patients were identified with history of either venous or arterial TAPS and a total 175 patient-years using fondaparinux (median duration 2.7 years/patient (IQR 1.4–4.8)). 43 (93%) had VKA as first-line anticoagulation with a median duration of 6.5 years (IQR 4.0 – 9.8). All patients received fondaparinux as second-to fourth-line anticoagulation. Thrombosis recurrence occurred in 1 (1%) patient (0.6 events/100-patient years). Major, clinically relevant non-major (CRNM) or minor bleeding occurred in 2 (7%), 5 (10.9%) and 8 (17.4%) patients respectively. Major/CRNM bleeding rates were 1.1 and 2.9 events/100-patient-years. Age >65years was associated with bleeding ( p = .047) and concurrent antiplatelets were associated with major/CRNM bleeding ( p = .011). Logistic regression showed increasing age was associated with bleeding (OR = 1.097, p = .009).ConclusionsWe suggest that fondaparinux may be used for TAPS when VKA is not appropriate. Thrombotic recurrence was infrequent, and the number of major bleeding events appeared comparable to conventional therapies.","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1177/09612033241284093
Eva Waldheim, Elisabet Welin, Stefan Bergman, Susanne Pettersson
BackgroundPain is one of the most frequently reported symptoms and often one of the first subjective symptoms in patients with systemic lupus erythematosus (SLE). A previous study indicated that most patients with SLE reported low levels of SLE-related pain. However, a subgroup of patients reported high levels of pain ≥40 mm (0-100 mm) and had a substantial symptom burden in terms of fatigue, anxiety, depression, and reduced health-related quality of life. Thus, there is a need to elucidate the implications of high levels of pain in everyday life.AimThis study explored the patient’s experiences and implications of SLE-related pain in daily life and the support requested from healthcare providers.MethodA total of 20 patients, previously reported high levels of SLE-related pain intensity measuring ≥40 mm (0–100 mm) in a research context at one or two occasions participated in individual semi-structured interviews, which were transcribed and analysed with content analysis.ResultsThe interviews revealed four main categories and 13 generic categories. SLE-associated pain was described by its multifaceted nature, exhibiting longstanding, unpredictable, migrating, and various physical sensations. The pain entailed multidimensional consequences, restricting everyday life by interfering with roles and relationships and causing various emotions, including existential thoughts. The informants used comprehensive strategies to deal with the pain, including their inner resources, support from family and significant others, and pharmaceuticals and relieving treatments. They expressed the need for security and acknowledgement, which involved individualized support and accessibility of healthcare.ConclusionThis study provides comprehensive insights into the nature and multifaceted impact of SLE-related pain in different dimensions of the informants’ daily lives. Except for medications the informants used several strategies, including their inner resources and support from family and others, to manage the pain. Support requested from healthcare providers by the informants included understanding, compassion, individualized care and accessibility.
{"title":"The experience and implications of pain in systemic lupus erythematosus: A qualitative interview study focusing on the patient’s perspective","authors":"Eva Waldheim, Elisabet Welin, Stefan Bergman, Susanne Pettersson","doi":"10.1177/09612033241284093","DOIUrl":"https://doi.org/10.1177/09612033241284093","url":null,"abstract":"BackgroundPain is one of the most frequently reported symptoms and often one of the first subjective symptoms in patients with systemic lupus erythematosus (SLE). A previous study indicated that most patients with SLE reported low levels of SLE-related pain. However, a subgroup of patients reported high levels of pain ≥40 mm (0-100 mm) and had a substantial symptom burden in terms of fatigue, anxiety, depression, and reduced health-related quality of life. Thus, there is a need to elucidate the implications of high levels of pain in everyday life.AimThis study explored the patient’s experiences and implications of SLE-related pain in daily life and the support requested from healthcare providers.MethodA total of 20 patients, previously reported high levels of SLE-related pain intensity measuring ≥40 mm (0–100 mm) in a research context at one or two occasions participated in individual semi-structured interviews, which were transcribed and analysed with content analysis.ResultsThe interviews revealed four main categories and 13 generic categories. SLE-associated pain was described by its multifaceted nature, exhibiting longstanding, unpredictable, migrating, and various physical sensations. The pain entailed multidimensional consequences, restricting everyday life by interfering with roles and relationships and causing various emotions, including existential thoughts. The informants used comprehensive strategies to deal with the pain, including their inner resources, support from family and significant others, and pharmaceuticals and relieving treatments. They expressed the need for security and acknowledgement, which involved individualized support and accessibility of healthcare.ConclusionThis study provides comprehensive insights into the nature and multifaceted impact of SLE-related pain in different dimensions of the informants’ daily lives. Except for medications the informants used several strategies, including their inner resources and support from family and others, to manage the pain. Support requested from healthcare providers by the informants included understanding, compassion, individualized care and accessibility.","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1177/09612033241273082
Yimy F Medina, Manuela R Rivera, Liliana K Duarte, Carlos M Rodriguez-Plata, Emmanuel R De León, Sonia C Rodríguez Martínez
ContextCognitive deficits are neuropsychiatric syndromes associated with systemic lupus erythematosus. In our context, there are no data on the frequency of cognitive deficit as a manifestation of neuropsychiatric SLE or the associated conditions.ObjectiveTo define determinants of cognitive deficit in a cohort of Colombian patients with SLE attending a third-level hospital.Methods and PatientsThis descriptive cross-sectional study included patients with SLE, explored the presence of cognitive impairment through screening testing using the Montreal Cognitive Assessment (MoCA test), and diagnostic confirmation with a specific neuropsychological test battery recommended by the American College of Rheumatology. Quality of life was assessed using the LupusCol questionnaire and depression using the Beck Depression Inventory.ResultsMost patients were women, with a median age of 37 years (IQR, 28.0 - 46.7). Most patients had a level of higher education or technical education. Fifty-nine (62.9%) patients presented with a normal MoCA test result ≥26 points, and 35 (37.1%) patients with a score <26 points that were considered abnormal. The comprehensive neuropsychological test battery was applied to 31 patients (33.0%) with an abnormal MoCA test. Forty-one patients (48.8%) had some degree of depression. The median loss of quality of life was 21.03% (IQR 10.2 - 40.3). 19 patients (20%) presented some degree of cognitive deficit, 15 (15.95% of the total sample) had cognitive impairment, and 4 (4.25%) had cognitive decline. In a logistic regression analysis using data from patients undergoing specific tests, variables related to cognitive deterioration were found to be associated with a lower quality of life, showing an adjusted odds ratio of 1.05 (CI 1.01-0.09). No association was demonstrated with SLEDAI, prednisolone use, cyclophosphamide use, and the presence of depression.ConclusionIn this study, it was found in 16% of patients evaluated with the complete neuropsychological test battery and in 37% with the MoCA screening test. Our results suggest that it is crucial to implement strategies to assess cognitive deficit, depression, and quality of life in the consultation of patients with SLE and to raise awareness among health providers who care for patients with lupus about their presence and impact.
{"title":"Cognitive impairment in a Colombian cohort of patients with systemic lupus erythematosus: A cross-sectional study","authors":"Yimy F Medina, Manuela R Rivera, Liliana K Duarte, Carlos M Rodriguez-Plata, Emmanuel R De León, Sonia C Rodríguez Martínez","doi":"10.1177/09612033241273082","DOIUrl":"https://doi.org/10.1177/09612033241273082","url":null,"abstract":"ContextCognitive deficits are neuropsychiatric syndromes associated with systemic lupus erythematosus. In our context, there are no data on the frequency of cognitive deficit as a manifestation of neuropsychiatric SLE or the associated conditions.ObjectiveTo define determinants of cognitive deficit in a cohort of Colombian patients with SLE attending a third-level hospital.Methods and PatientsThis descriptive cross-sectional study included patients with SLE, explored the presence of cognitive impairment through screening testing using the Montreal Cognitive Assessment (MoCA test), and diagnostic confirmation with a specific neuropsychological test battery recommended by the American College of Rheumatology. Quality of life was assessed using the LupusCol questionnaire and depression using the Beck Depression Inventory.ResultsMost patients were women, with a median age of 37 years (IQR, 28.0 - 46.7). Most patients had a level of higher education or technical education. Fifty-nine (62.9%) patients presented with a normal MoCA test result ≥26 points, and 35 (37.1%) patients with a score <26 points that were considered abnormal. The comprehensive neuropsychological test battery was applied to 31 patients (33.0%) with an abnormal MoCA test. Forty-one patients (48.8%) had some degree of depression. The median loss of quality of life was 21.03% (IQR 10.2 - 40.3). 19 patients (20%) presented some degree of cognitive deficit, 15 (15.95% of the total sample) had cognitive impairment, and 4 (4.25%) had cognitive decline. In a logistic regression analysis using data from patients undergoing specific tests, variables related to cognitive deterioration were found to be associated with a lower quality of life, showing an adjusted odds ratio of 1.05 (CI 1.01-0.09). No association was demonstrated with SLEDAI, prednisolone use, cyclophosphamide use, and the presence of depression.ConclusionIn this study, it was found in 16% of patients evaluated with the complete neuropsychological test battery and in 37% with the MoCA screening test. Our results suggest that it is crucial to implement strategies to assess cognitive deficit, depression, and quality of life in the consultation of patients with SLE and to raise awareness among health providers who care for patients with lupus about their presence and impact.","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1177/09612033241281610
María Fernanda Ordoñez-Rubiano, Paula A. Gutiérrez-Marín
Two cases of chilblain lupus erythematosus (CLE) potentially triggered by exposure to ultraviolet (UV) nail lamps are presented. These cases, along with a review of the literature, suggest a possible link between UV nail lamp use and CLE development or reactivation. Further research is needed to confirm this association, but healthcare professionals should be aware of the potential risks of this practice, especially for patients with photosensitive conditions.
{"title":"Chilblain lupus erythematosus triggered by UV nail lamp exposure: A case series. Chilblain lupus and nail lamp","authors":"María Fernanda Ordoñez-Rubiano, Paula A. Gutiérrez-Marín","doi":"10.1177/09612033241281610","DOIUrl":"https://doi.org/10.1177/09612033241281610","url":null,"abstract":"Two cases of chilblain lupus erythematosus (CLE) potentially triggered by exposure to ultraviolet (UV) nail lamps are presented. These cases, along with a review of the literature, suggest a possible link between UV nail lamp use and CLE development or reactivation. Further research is needed to confirm this association, but healthcare professionals should be aware of the potential risks of this practice, especially for patients with photosensitive conditions.","PeriodicalId":18044,"journal":{"name":"Lupus","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}