Mediterranean Journal of Rheumatology最新文献_第10页

Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study. 巴勒斯坦家族性地中海热患儿的基因型突变：临床特征和秋水仙碱治疗的反应：一项回顾性队列研究。

Mediterranean Journal of Rheumatology Pub Date : 2023-09-12 eCollection Date: 2023-09-01 DOI: 10.31138/mjr.20230912.stm

Oadi N Shrateh, Mariam Thalji, Afnan W M Jobran, Aml M Brakat, Abdelrahman M Attia, Fawzy M Abunejma

{"title":"Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study.","authors":"Oadi N Shrateh, Mariam Thalji, Afnan W M Jobran, Aml M Brakat, Abdelrahman M Attia, Fawzy M Abunejma","doi":"10.31138/mjr.20230912.stm","DOIUrl":"10.31138/mjr.20230912.stm","url":null,"abstract":"Background: Familial Mediterranean fever is a hereditary autoinflammatory disease affecting mainly Arabs, Turks, Armenians, and Jews with genotype-phenotype heterogeneity, presenting as recurrent episodes of fever along with polyserositis and rash. To date, more than 370 mutations in the MEFV gene have been recognized to cause the disease.Methods: We conducted a retrospective cohort study involving 124 patients in Hebron, Palestine, diagnosed with FMF at the Al-Ahli, and Palestinian Red Crescent Society (PRCS) Hospitals.Results: The median age of diagnosis was five years, presenting as abdominal pain (76.6%), fever (67.7%), joint pain and arthritis. Regarding MEFV gene mutations, we had 62 patients (50%) with heterozygous genotypes, 40 patients (32.3%) with homozygous phenotypes, 21 patients (16.9%) with compound heterozygous genotypes, and one was a missing state. Regarding variant frequencies, M694V was the most common one (43.4%), followed by E148Q (15.6%), V726A (5.7%), A744S (4.1%), and R202Q (4.1%). Positive family history was detected in 59 patients (54.6%), and there was no significant difference in zygosity regarding characteristics, consanguinity, and family history.Conclusions: We affirm in this study of 124 children with FMF, abdominal pain, followed by fever, joint pain and arthritis were the main manifestations. Further, M694V, E148Q, V726A, A744S, and R202Q were the most frequent mutations, and carrying the M649V mutations is associated with a predisposition to other comorbidities. We believe that this study gives a pervasive overview of FMF in Palestinian patients. Looking forward, future studies on a larger number of patients could precisely highlight the genotype-phenotype association among FMF patients.","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"34 3","pages":"332-341"},"PeriodicalIF":0.0,"publicationDate":"2023-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10628868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71522801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expression Levels and Clinical Values of miR-195, miR-424, miR-10b, miR-103a-3p, and miR-542-3p in Vasculo-Behçet's Disease. 血管性白塞氏病中 miR-195、miR-424、miR-10b、miR-103a-3p 和 miR-542-3p 的表达水平和临床价值

Mediterranean Journal of Rheumatology Pub Date : 2023-09-07 eCollection Date: 2024-06-01 DOI: 10.31138/mjr.030623.elc

Serdar Kaymaz, Demiray Aydın, Karasu Uğur, Veli Çobankara, Seçil Tan

{"title":"Expression Levels and Clinical Values of miR-195, miR-424, miR-10b, miR-103a-3p, and miR-542-3p in Vasculo-Behçet's Disease.","authors":"Serdar Kaymaz, Demiray Aydın, Karasu Uğur, Veli Çobankara, Seçil Tan","doi":"10.31138/mjr.030623.elc","DOIUrl":"https://doi.org/10.31138/mjr.030623.elc","url":null,"abstract":"Objective: MicroRNAs (miRNAs) are involved in a range of pathological and biological processes. Vascular involvement is an important complication associated with morbidity and mortality in Behçet's disease (BD). In this study, we aimed to evaluate the expression levels of miR-195, miR-424, miR-10b, miR-103a-3p, and miR-542-3p in Turkish patients with BD, and their possible association with vascular involvement and clinical activity.Methods: This cross-sectional study included 61 BD patients and 25 age- and sex-matched healthy individuals. The patients were categorised into two groups based on the presence or absence of vascular involvement. Demographic data, disease duration, disease activity, and medical treatments were recorded. Disease activity was evaluated using the Behçet's Disease Current Activity Form (BDCAF) and the Behçet's Syndrome Activity Scale (BSAS). The expression levels of miRNAs were measured using real-time quantitative polymerase chain reaction (RT-qPCR).Results: The comparison of the clinical features of BD patients with and without vascular involvement revealed no significant difference. However, the expression levels of miR-195, miR-424, miR-10b, miR-103a-3p, and miR-542-3p were significantly higher in BD patients than in healthy controls (p<0.001, p<0.001, p=0.010, p<0.01, p=0.039, respectively). Moreover, the expression level of miR-195 was significantly higher in vasculo-Behçet patients than in the other groups (p=0.0318). However, no significant association was found between the expression levels of miR-195 and clinical activity.Conclusion: Our study results indicated elevated serum levels of miR-195 in BD patients, which may be associated with vascular involvement. Therefore, miR-195 could potentially serve as a biomarker for the diagnosis and monitoring of vasculo-Behçet's disease.","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"35 2","pages":"255-262"},"PeriodicalIF":0.0,"publicationDate":"2023-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11350416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142112731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tonic-Clonic Seizure in Patient With SLE: Posterior Reversible Encephalopathy Syndrome, or a Neuropsychiatric Manifestation of SLE? SLE患者强直性脊柱炎发作：SLE的后发可逆性脑病综合征还是神经精神表现？

Mediterranean Journal of Rheumatology Pub Date : 2023-09-05 eCollection Date: 2023-09-01 DOI: 10.31138/mjr.20230905.tc

Yasin Ozturk, Neslihan Ozturk, Aysenur Argun, Hakan Ozer, Fethi Yonet, İsmail Baloglu

引用次数: 0

Clinical, Serological, and Immunological Characteristics of Greek Patients with Polymyalgia Rheumatica and/or Giant Cell Arteritis: A Research Protocol. 希腊多发性风湿病和/或巨细胞动脉炎患者的临床、血清学和免疫学特征：研究方案。

Mediterranean Journal of Rheumatology Pub Date : 2023-09-05 eCollection Date: 2023-12-01 DOI: 10.31138/mjr.050923.csa

Tereza Memi, Nikolaos Koletsos, Nafsika Gerolymatou, Maria Karakosta, Athanasios N Georgiadis, Alexandros A Drosos, Paraskevi V Voulgari

{"title":"Clinical, Serological, and Immunological Characteristics of Greek Patients with Polymyalgia Rheumatica and/or Giant Cell Arteritis: A Research Protocol.","authors":"Tereza Memi, Nikolaos Koletsos, Nafsika Gerolymatou, Maria Karakosta, Athanasios N Georgiadis, Alexandros A Drosos, Paraskevi V Voulgari","doi":"10.31138/mjr.050923.csa","DOIUrl":"10.31138/mjr.050923.csa","url":null,"abstract":"Polymyalgia Rheumatica (PMR) and Giant Cell Arteritis (GCA) are chronic inflammatory disorders that usually affect older people. Although the aetiology of these diseases remains unknown, genetic, environmental, and immune factors have been implicated. Specific cytokines such as the IL-6, IL-1β, IL-12, IL-17, and interferon -γ seem to play an essential role. The diagnosis of the disease is usually based on clinical manifestations and the use of histology or imaging, while disease monitoring is based on physical examination, laboratory, and imaging findings. However, there is the unmet need in identifying possible biomarkers that could help the diagnosis and the monitoring as well. The present study aims to investigate the epidemiological, clinical, and immunological characteristics of PMR and/or GCA patients in the region of northwest Greece and to evaluate the role of specific molecules associated with the pathogenesis of the diseases, giving evidence to possible future biomarkers.","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"34 4","pages":"577-580"},"PeriodicalIF":0.0,"publicationDate":"2023-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10815527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Should All Patients Trial Subcutaneous Methotrexate Prior to Commencing Biologic Therapy? A Real World Study. 是否所有患者都应在开始生物治疗前试用皮下注射甲氨蝶呤？一项真实世界的研究。

Mediterranean Journal of Rheumatology Pub Date : 2023-09-04 eCollection Date: 2024-03-01 DOI: 10.31138/mjr.140423.sat

Anem Mirza, Muhammad K Nisar

{"title":"Should All Patients Trial Subcutaneous Methotrexate Prior to Commencing Biologic Therapy? A Real World Study.","authors":"Anem Mirza, Muhammad K Nisar","doi":"10.31138/mjr.140423.sat","DOIUrl":"10.31138/mjr.140423.sat","url":null,"abstract":"Introduction: Methotrexate (MTX) is the bed rock of inflammatory arthritis management. However, intolerance is a limiting factor for drug optimisation and retention. There is data to suggest subcutaneous (SC) MTX is better tolerated. It is less clear whether this strategy is effective in those where the oral preparation is inefficacious and its potential to avoid escalation to biologic therapy.Objectives: To analyse the reasons for switching to SC MTX in a real-world setting, clinical outcomes achieved and proportion requiring biologic prescription.Materials and methods: A retrospective survey of patients prescribed SC MTX in a university teaching hospital identified 352 patients. 298 switched from oral to SC MTX- 164 stopped oral MTX due to side effects, 134 stopped due to inefficacy, and 54 started SC MTX as first line therapy. 103 patients progressed to biologic therapy. Rheumatoid arthritis (RA): DAS-28 improved from a mean of 4.06 (0.63-8.06) to 2.83 (0.14-7.32) following the switch (p<0.0001). Psoriatic arthritis (PsA): total joint count improved from a mean of 7 (0-42) to 2 (0-25) (p<0.0001). Swollen joint count improved from a mean of 2 (0-26) to 1 (0-6) (p=0.09).Discussion: SC MTX is an effective solution for RA and PsA, irrespective of whether oral MTX is inefficacious or intolerable. Where oral MTX was ineffective, a switch to SC achieved low disease activity despite multi-morbidity, long disease course and protracted oral MTX exposure. This intervention prevented over two-thirds of patients requiring biologics. SC MTX is a durable strategy with excellent disease outcomes and substantial economic benefits.","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"35 1","pages":"115-122"},"PeriodicalIF":0.0,"publicationDate":"2023-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Conundrum of Severe Hypokalaemic Quadriparesis, Acute Kidney Injury, and Lung Involvement as the Initial Presentation of Catastrophic Primary Sjögren's Syndrome: Is it a New Entity? A Case Report. 严重低钾性四肢瘫痪、急性肾损伤和肺部受累是灾难性原发性斯约格伦综合征的最初表现：这是一种新实体吗？病例报告。

Mediterranean Journal of Rheumatology Pub Date : 2023-09-04 eCollection Date: 2023-12-01 DOI: 10.31138/mjr.040923.acs

Vishal Mangal, Gaurav Vohra, Sudipt Adhikari, Anil Vasudeva

{"title":"A Conundrum of Severe Hypokalaemic Quadriparesis, Acute Kidney Injury, and Lung Involvement as the Initial Presentation of Catastrophic Primary Sjögren's Syndrome: Is it a New Entity? A Case Report.","authors":"Vishal Mangal, Gaurav Vohra, Sudipt Adhikari, Anil Vasudeva","doi":"10.31138/mjr.040923.acs","DOIUrl":"10.31138/mjr.040923.acs","url":null,"abstract":"Sjögren's syndrome (SS) is a systemic chronic autoimmune disorder that classically affects the exocrine glands. Only 15% of the patients with primary SS (pSS) develop extraglandular symptoms involving the lungs, kidneys, joints, nervous system, and skin. Hypokalaemic paralysis is a rare presentation. The most common cause of hypokalaemia is distal renal tubular acidosis. The prevalence of clinically significant lung involvement in pSS is 9-20 %. Primary SS is an indolent disease leading to increased morbidity and poor quality of life. We present a case of a 40-year-old female with severe hypokalaemic paralysis, tubulointerstitial nephritis, and lung involvement as the initial presentation of catastrophic pSS without sicca symptoms. The course of hospitalisation was complicated by ventilator-associated pneumonia. She was managed with broad spectrum antibiotics, five sessions of plasma exchange and alternate-day haemodialysis followed by oral glucocorticoids and intravenous cyclophosphamide. To the best of our knowledge, this is the first case of catastrophic presentation of pSS with a favourable outcome.","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"34 4","pages":"555-559"},"PeriodicalIF":0.0,"publicationDate":"2023-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10815543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Obituary for Professor George Vaiopoulos (1943–2023) 乔治-韦奥普洛斯教授（1943-2023）讣告

Mediterranean Journal of Rheumatology Pub Date : 2023-09-01 DOI: 10.31138/mjr.20230925.op

M. Kanakis, P.P. Sfikakis

引用次数: 0

Paraneoplastic Polyarthritis in a Patient with Synchronous Lung and Colorectal Malignancy. 并发肺部和结直肠癌的副肿瘤性多关节炎。

Mediterranean Journal of Rheumatology Pub Date : 2023-08-31 eCollection Date: 2023-09-01 DOI: 10.31138/mjr.20230831.pp

Claudia Cobilinschi, Alexandra Constantinescu, Egor Șargarovschi, Simona Enache, Andra Rodica Bălănescu, Daniela Opriş-Belinski

引用次数: 0

The Impact of a Physiotherapy Tele-Rehabilitation Program on the Quality of Care for Children with Juvenile Idiopathic Arthritis. 物理治疗远程康复计划对青少年特发性关节炎患儿护理质量的影响。

Mediterranean Journal of Rheumatology Pub Date : 2023-08-31 eCollection Date: 2023-12-01 DOI: 10.31138/mjr.310823.tio

Maria Stavrakidou, Maria Trachana, Artemis Koutsonikoli, Kyriaki Spanidou, Alexandra Hristara-Papadopoulou

{"title":"The Impact of a Physiotherapy Tele-Rehabilitation Program on the Quality of Care for Children with Juvenile Idiopathic Arthritis.","authors":"Maria Stavrakidou, Maria Trachana, Artemis Koutsonikoli, Kyriaki Spanidou, Alexandra Hristara-Papadopoulou","doi":"10.31138/mjr.310823.tio","DOIUrl":"10.31138/mjr.310823.tio","url":null,"abstract":"Objectives: To investigate the applicability and impact of a physiotherapy tele-rehabilitation program (TRP) on children with Juvenile Idiopathic Arthritis (JIA) and their families.Methods: Thirty JIA patients, applying an individualized home-exercise program (HEP), were randomly divided in the tele-rehabilitation (TRG, n=15) and control group (CG, n=15). Each TRG patient participated in a 30-minute tele-session, under a paediatric physiotherapist's supervision, twice a week, for 12 weeks. Before and after the TRP (T1 and T2, respectively), all participants and a parent/guardian completed the Juvenile Arthritis Multidimensional Assessment Report (JAMAR) questionnaire and a questionnaire regarding the HEP implementation and compliance. Residual disease was estimated at T1 and T2. At T2, TRG patients/parents completed a questionnaire evaluating the TRP. One month after T2, a reassessment of compliance with the HEP was performed.Results: The patients' median age was 12.8 (8-16) years. At T2, the TRG patients performed the HEP significantly more frequently (p=0.023), for a longer time (p=0.034) and with less urging (p=0.004), compared to T1. Moreover, they exhibited significantly increased compliance with HEP (p=0.001), better functionality (p=0.008), better quality of life (p=0.007) and less pain (p=0.017). The CG patients showed no significant changes. Residual disease improved in both groups (TRG:p=0.002, CG:p=0.018), but more in the TRG (p=0.045). TRP's applicability and total benefit were rated as excellent by patients/parents. Finally, one month after T2, compliance with the HEP was still greater than at T1(p=0.001).Conclusion: An interactive physiotherapy TRP can be implemented effectively for JIA patients, providing an additional tool for their rehabilitation.","PeriodicalId":32816,"journal":{"name":"Mediterranean Journal of Rheumatology","volume":"34 4","pages":"443-453"},"PeriodicalIF":0.0,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10815514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hansen's Disease, the Perpetual Impersonator ("The Behroopiya") of Rheumatology Practice: A Case Series. 汉森氏病，风湿病学实践中的永恒模仿者（"Behroopiya"）：病例系列。

Mediterranean Journal of Rheumatology Pub Date : 2023-08-31 eCollection Date: 2023-12-01 DOI: 10.31138/mjr.310823.hdt

Kavita Krishna, Sandeep Sadashivrao Kansurkar, Akanksha Kapoor, Sri Lakshmi Sathiyaseelan, Deepti Agarwal

引用次数: 0