Egyptian Rheumatologist最新文献_第9页

Genetic mutations and left ventricular dysfunction in children with familial Mediterranean fever 家族性地中海热儿童的基因突变和左心室功能障碍

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-05-20 DOI: 10.1016/j.ejr.2024.05.001

Doaa AbdelAziz , Hanan Zekri , Huda Marzouk , Antoine AbdelMassih , Rehab Elrifi , Hala Talaat

Aim of the work

To evaluate subclinical cardiac involvement and ventricular function in children with familial Mediterranean fever (FMF) using speckle-tracking modalities and Doppler tissue imaging (DTI) and to study the association between ventricular dysfunction and genetic mutations.

Patients and methods

Fifty children with FMF with no cardiac symptoms were compared to 50 matched control. Echocardiographic data was recorded, including global longitudinal strain (GLS) and global circumferential strain (GCS) for assessment of the left ventricle systolic function using speckle tracking technique and the (E/E') ratio between early filling velocity (E) and peak early diastolic myocardial lengthening velocity (E'). Genetic mutation testing for M694I, M694V, M680I, E148Q was performed.

Results

Patients' mean age was 10.7 ± 2.6 years, 27 (54 %) were girls, and 52 % had homozygous mutations. M694I (20 %), M694V (18 %), and M680I (16 %) were the most common mutations. Diastolic dysfunction indicators (average E/É) were significant compared to control (p = 0.004). Patients had lower GLSs (p = 0.0001) and GCSs (p < 0.0001). The M680I mutation was associated with increased left ventricular end-diastolic volume (p = 0.005) and average E/E' (p = 0.002). M694I mutation was associated with increased E/E' (p = 0.048), decreased GLS (p = 0.016), and GCS (p = 0.023). The M694V mutation was associated with increased disease severity (p = 0.008). The combination of M680I and V726A mutations was associated with a reduced ejection fraction (p = 0.001).

Conclusion

Children with FMF tend to have subclinical left ventricular diastolic dysfunction. Certain genetic mutations increase the likelihood of systolic ventricular dysfunction.

工作目的使用斑点追踪模式和多普勒组织成像（DTI）评估家族性地中海热（FMF）患儿的亚临床心脏受累情况和心室功能，并研究心室功能障碍与基因突变之间的关联。患者和方法将50名无心脏症状的FMF患儿与50名匹配的对照组患儿进行比较。记录超声心动图数据，包括利用斑点追踪技术评估左心室收缩功能的整体纵向应变（GLS）和整体环向应变（GCS），以及早期充盈速度（E）与舒张早期心肌延长速度峰值（E'）之间的（E/E'）比值。结果患者平均年龄为（10.7 ± 2.6）岁，27 例（54 %）为女孩，52 %为同基因突变。M694I（20%）、M694V（18%）和M680I（16%）是最常见的突变。与对照组相比，舒张功能障碍指标（平均 E/É）显著降低（p = 0.004）。患者的 GLS（p = 0.0001）和 GCS（p < 0.0001）均较低。M680I突变与左心室舒张末期容积增加（p = 0.005）和平均E/E'（p = 0.002）有关。M694I 突变与 E/E' 增加（p = 0.048）、GLS 减少（p = 0.016）和 GCS 减少（p = 0.023）有关。M694V 突变与疾病严重程度增加有关（p = 0.008）。结论患有 FMF 的儿童往往存在亚临床左心室舒张功能障碍。某些基因突变会增加心室收缩功能障碍的可能性。

{"title":"Genetic mutations and left ventricular dysfunction in children with familial Mediterranean fever","authors":"Doaa AbdelAziz , Hanan Zekri , Huda Marzouk , Antoine AbdelMassih , Rehab Elrifi , Hala Talaat","doi":"10.1016/j.ejr.2024.05.001","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.05.001","url":null,"abstract":"<div><h3>Aim of the work</h3><p>To evaluate subclinical cardiac involvement and ventricular function in children with familial Mediterranean fever (FMF) using speckle-tracking modalities and Doppler tissue imaging (DTI) and to study the association between ventricular dysfunction and genetic mutations.</p></div><div><h3>Patients and methods</h3><p>Fifty children with FMF with no cardiac symptoms were compared to 50 matched control. Echocardiographic data was recorded, including global longitudinal strain (GLS) and global circumferential strain (GCS) for assessment of the left ventricle systolic function using speckle tracking technique and the (E/E') ratio between early filling velocity (E) and peak early diastolic myocardial lengthening velocity (E'). Genetic mutation testing for M694I, M694V, M680I, E148Q was performed.</p></div><div><h3>Results</h3><p>Patients' mean age was 10.7 ± 2.6 years, 27 (54 %) were girls, and 52 % had homozygous mutations. M694I (20 %), M694V (18 %), and M680I (16 %) were the most common mutations. Diastolic dysfunction indicators (average E/É) were significant compared to control (p = 0.004). Patients had lower GLSs (p = 0.0001) and GCSs (p < 0.0001). The M680I mutation was associated with increased left ventricular end-diastolic volume (p = 0.005) and average E/E' (p = 0.002). M694I mutation was associated with increased E/E' (p = 0.048), decreased GLS (p = 0.016), and GCS (p = 0.023). The M694V mutation was associated with increased disease severity (p = 0.008). The combination of M680I and V726A mutations was associated with a reduced ejection fraction (p = 0.001).</p></div><div><h3>Conclusion</h3><p>Children with FMF tend to have subclinical left ventricular diastolic dysfunction. Certain genetic mutations increase the likelihood of systolic ventricular dysfunction.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 152-156"},"PeriodicalIF":0.9,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141073237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Gender-driven thyroid dysfunction in systemic lupus erythematosus patients: Clinical significance of an overlooked association and global stance 系统性红斑狼疮患者中由性别驱动的甲状腺功能障碍：被忽视的关联和全球立场的临床意义

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-05-19 DOI: 10.1016/j.ejr.2024.05.002

Ibtisam M.A. Jali

Aim of the work

This study aimed to determine the association of thyroid dysfunction in systemic lupus erythematosus (SLE) patients.

Patients and methods

Out of a cohort including 312 adult SLE patients those with thyroid dysfunction (n = 53) were further evaluated. The medical history, clinical examination, laboratory investigations and medications received were recorded. The SLICC damage index (SLICC-DI) was assessed.

Results

Thyroid dysfunction formed 17 % of the patients and their mean age was 39.5 ± 11.5 years and disease duration 5.6 ± 3.3 years were comparable to those without thyroid disorder, however female gender was predominantly higher (F:M 52:1 vs 6.2:1, p < 0.0001). The frequency of thyroid dysfunction was alike in Saudi (16 %) and non-Saudi (17.9 %) patients (p = 0.66). The majority of cases (96.2 %) had hypothyroidism, one with autoimmune thyroiditis, while only 2 (3.8 %) had hyperthyroidism. There was a significantly increased frequency of associated neuropsychiatric manifestations (64.2 % vs 45.2 %;p = 0.012), and hematological involvement (32.1 % vs 14.3 %; p = 0.011) and less complement (C4) consumption (15.1 % vs 23.6 %; p = 0.048) in those with thyroid dysfunction compared to those without. The frequency of anti-double stranded deoxyribonucleic acid (anti-dsDNA) positivity tended to be higher (71.7 % vs 66.8 %) and its titre significantly lower (316.3 ± 319.8 IU/ml vs 461.3 ± 459.1; p = 0.013). The SLICC-DI and mortality rate were comparable between groups. Only the presence of proteinuria inversely significantly correlated with the level of T4 (r = -0.31, p = 0.007).

Conclusion

Thyroid dysfunction forms a notable percentage of SLE patients with a prominent female gender propensity. The significant relation of thyroid disorders to neuropsychiatric manifestations, hematological involvement, C4 consumption and anti-dsDNA deserves recognition.

这项研究旨在确定系统性红斑狼疮（SLE）患者甲状腺功能障碍的相关性。患者和方法在包括312名成年系统性红斑狼疮患者的队列中，对甲状腺功能障碍患者（53人）进行了进一步评估。病史、临床检查、实验室检查和接受的药物均被记录在案。结果甲状腺功能障碍患者占17%，平均年龄为（39.5 ± 11.5）岁，病程为（5.6 ± 3.3）年，与无甲状腺功能障碍的患者相当，但女性患者居多（女：男52:1 vs 6.2:1，p < 0.0001）。沙特籍（16%）和非沙特籍（17.9%）患者的甲状腺功能障碍发生率相同（p = 0.66）。大多数病例（96.2%）患有甲状腺功能减退症，其中一人患有自身免疫性甲状腺炎，只有两人（3.8%）患有甲状腺功能亢进症。与无甲状腺功能障碍的病例相比，有甲状腺功能障碍的病例出现相关神经精神症状（64.2% vs 45.2%；P = 0.012）、血液病（32.1% vs 14.3%；P = 0.011）和补体（C4）消耗较少（15.1% vs 23.6%；P = 0.048）的频率明显增加。抗双链脱氧核糖核酸（anti-dsDNA）阳性的频率往往更高（71.7% vs 66.8%），滴度明显更低（316.3 ± 319.8 IU/ml vs 461.3 ± 459.1；p = 0.013）。各组的 SLICC-DI 和死亡率相当。结论甲状腺功能障碍在系统性红斑狼疮患者中占有相当大的比例，且女性患者占多数。甲状腺功能紊乱与神经精神表现、血液学受累、C4消耗和抗dsDNA的重要关系值得肯定。

{"title":"Gender-driven thyroid dysfunction in systemic lupus erythematosus patients: Clinical significance of an overlooked association and global stance","authors":"Ibtisam M.A. Jali","doi":"10.1016/j.ejr.2024.05.002","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.05.002","url":null,"abstract":"<div><h3>Aim of the work</h3><p>This study aimed to determine the association of thyroid dysfunction in systemic lupus erythematosus (SLE) patients.</p></div><div><h3>Patients and methods</h3><p>Out of a cohort including 312 adult SLE patients those with thyroid dysfunction (n = 53) were further evaluated. The medical history, clinical examination, laboratory investigations and medications received were recorded. The SLICC damage index (SLICC-DI) was assessed.</p></div><div><h3>Results</h3><p>Thyroid dysfunction formed 17 % of the patients and their mean age was 39.5 ± 11.5 years and disease duration 5.6 ± 3.3 years were comparable to those without thyroid disorder, however female gender was predominantly higher (F:M 52:1 vs 6.2:1, p < 0.0001). The frequency of thyroid dysfunction was alike in Saudi (16 %) and non-Saudi (17.9 %) patients (p = 0.66). The majority of cases (96.2 %) had hypothyroidism, one with autoimmune thyroiditis, while only 2 (3.8 %) had hyperthyroidism. There was a significantly increased frequency of associated neuropsychiatric manifestations (64.2 % vs 45.2 %;p = 0.012), and hematological involvement (32.1 % vs 14.3 %; p = 0.011) and less complement (C4) consumption (15.1 % vs 23.6 %; p = 0.048) in those with thyroid dysfunction compared to those without. The frequency of anti-double stranded deoxyribonucleic acid (anti-dsDNA) positivity tended to be higher (71.7 % vs 66.8 %) and its titre significantly lower (316.3 ± 319.8 IU/ml vs 461.3 ± 459.1; p = 0.013). The SLICC-DI and mortality rate were comparable between groups. Only the presence of proteinuria inversely significantly correlated with the level of T4 (r = -0.31, p = 0.007).</p></div><div><h3>Conclusion</h3><p>Thyroid dysfunction forms a notable percentage of SLE patients with a prominent female gender propensity. The significant relation of thyroid disorders to neuropsychiatric manifestations, hematological involvement, C4 consumption and anti-dsDNA deserves recognition.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 147-151"},"PeriodicalIF":0.9,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141068821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Trunk position sense, spine posture and static postural sway in axial spondyloarthritis patients: Relation to disease metrology, activity and functional status 轴性脊柱关节炎患者的躯干位置感、脊柱姿势和静态姿势摇摆：与疾病计量、活动和功能状态的关系

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-05-08 DOI: 10.1016/j.ejr.2024.04.006

Yasemin Mirza , Bahar Anaforoğlu , Tülin Düger , Adem Küçük

Aim of the work

This study aimed to compare trunk position sense, spine posture and postural stability, among non-radiographic axial spondyloarthritis (nr-axSpA), ankylosing spondylitis (AS) patients and healthy controls and explore the potential relationships between these parameters and disease-related characteristics.

Patients and methods

Twenty four patients with AS, 23 patients with nr-axSpA, and 24 age and gender-matched healthy controls were participated in this study. A digital inclinometer was used to measure trunk repositioning error (TRE) and spine posture. Postural stability was evaluated with a stabilometric platform. In addition, disease activity, spinal mobility and functional capacity were evaluated with Bath Ankylosing Spondylitis Disease Activity Index, Bath Ankylosing Spondylitis Metrology Index and Bath Ankylosing Spondylitis Functional Index, respectively.

Results

The 47 patients mean age was 38.83 ± 9.3 years and were 34 females and 13 males. TRE was higher in AS and nr-axSpA patients compared to control (p < 0.001). AS and nr-axSpA patients presented higher thoracic curvature and lower lumbal lordosis compared to controls (p < 0.05) whereas there was no significant difference between nr-axSpA and AS (p = 0.97). The degree of thoracic curvature was higher in AS compared to nr-axSpA (p = 0.002). Mediolateral stability in eyes closed was significantly higher in AS and nraxSpA than control (p = 0.001). Time since onset of symptoms, which might affect radiographic spinal damage, was significantly associated with TRE in patients with AS (r = 0.703, p = 0.005).

Conclusion

Radiographic status may alter spinal mobility, spine posture and trunk position sense in axSpA patients. Different approaches might need to improve these parameters in different subtypes of axSpA.

工作目的本研究旨在比较非放射性轴性脊柱关节炎（nr-axSpA）、强直性脊柱炎（AS）患者和健康对照组的躯干位置感、脊柱姿势和姿势稳定性，并探讨这些参数与疾病相关特征之间的潜在关系。使用数字倾斜仪测量躯干复位误差（TRE）和脊柱姿势。姿势稳定性通过稳定测量平台进行评估。结果 47名患者的平均年龄为（38.83±9.3）岁，其中女性34人，男性13人。与对照组相比，强直性脊柱炎和 nr-axSpA 患者的 TRE 较高（P < 0.001）。与对照组相比，AS和nr-axSpA患者的胸椎弯曲度较高，椎体前凸较低（p <0.05），而nr-axSpA和AS之间没有显著差异（p = 0.97）。与 nr-axSpA 相比，AS 的胸椎弯曲程度更高（p = 0.002）。强直性脊柱炎和 nraxSpA 患者闭眼时的中外侧稳定性明显高于对照组（p = 0.001）。AS患者中，可能影响脊柱放射损伤的发病时间与TRE显著相关（r = 0.703，p = 0.005）。不同亚型的轴性SpA患者可能需要不同的方法来改善这些参数。

{"title":"Trunk position sense, spine posture and static postural sway in axial spondyloarthritis patients: Relation to disease metrology, activity and functional status","authors":"Yasemin Mirza , Bahar Anaforoğlu , Tülin Düger , Adem Küçük","doi":"10.1016/j.ejr.2024.04.006","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.04.006","url":null,"abstract":"<div><h3>Aim of the work</h3><p>This study aimed to compare trunk position sense, spine posture and postural stability, among non-radiographic axial spondyloarthritis (nr-axSpA), ankylosing spondylitis (AS) patients and healthy controls and explore the potential relationships between these parameters and disease-related characteristics.</p></div><div><h3>Patients and methods</h3><p>Twenty four patients with AS, 23 patients with nr-axSpA, and 24 age and gender-matched healthy controls were participated in this study. A digital inclinometer was used to measure trunk repositioning error (TRE) and spine posture. Postural stability was evaluated with a stabilometric platform. In addition, disease activity, spinal mobility and functional capacity were evaluated with Bath Ankylosing Spondylitis Disease Activity Index, Bath Ankylosing Spondylitis Metrology Index and Bath Ankylosing Spondylitis Functional Index, respectively.</p></div><div><h3>Results</h3><p>The 47 patients mean age was 38.83 ± 9.3 years and were 34 females and 13 males. TRE was higher in AS and nr-axSpA patients compared to control (p < 0.001). AS and nr-axSpA patients presented higher thoracic curvature and lower lumbal lordosis compared to controls (p < 0.05) whereas there was no significant difference between nr-axSpA and AS (p = 0.97). The degree of thoracic curvature was higher in AS compared to nr-axSpA (p = 0.002). Mediolateral stability in eyes closed was significantly higher in AS and nraxSpA than control (p = 0.001). Time since onset of symptoms, which might affect radiographic spinal damage, was significantly associated with TRE in patients with AS (r = 0.703, p = 0.005).</p></div><div><h3>Conclusion</h3><p>Radiographic status may alter spinal mobility, spine posture and trunk position sense in axSpA patients. Different approaches might need to improve these parameters in different subtypes of axSpA.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 142-146"},"PeriodicalIF":0.9,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140894748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Demographic, clinical and imaging characteristics of axial spondyloarthritis patients 轴性脊柱关节炎患者的人口统计学、临床和影像学特征

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-04-24 DOI: 10.1016/j.ejr.2024.04.002

Nashwa A Morshedy , Mohamed S Abdelbaky , Sameh A Hassan , Noha MG Mohey Eldeen , Mohamed G Hassan , Alshymaa M Farouk

Background

Axial spondyloarthritis (axSpA) is a chronic, immune-mediated inflammatory disorder involving the sacroiliac (SI) joints, spine, entheses and peripheral joints. It encompasses both radiographic (r-axSPA) and non-radiographic (nr-axSPA) axial SpA according to the presence or absence of radiographic sacroiliitis.

Aim of the work

To study the demographic features, clinical manifestations and imaging characteristics of axSpA and to assess the differences between r-axSpA and nr-axSpA.

Patients and methods

This study was conducted on 80 axSpA patients. All Patients were subjected to detailed medical history, assessment of disease activity, functional status, laboratory investigations and imaging.Bath AS Disease Activity Index (BASDAI), AS disease activity score (ASDAS), Bath AS Functional Index (BASFI) were assessed. Radiographic sacroiliitis was assessed using the Stoke Ankylosing Spondylitis Spinal Score (mSASSS).

Results

The 80 axSpA patients were 59 (73.8 %) nr-axSpA and 21 (26.3 %) with r-axSpA. The mean age of the patients was 35 ± 8.6 (18–55 years). 43 (53.8 %) were males and 37 (46.3 %) females and the median disease duration was 6.5 years (0.5–22 years). Human leucocytic antigen was positive in 16.3 % and psoriasis was present in 13.8 %. Smoking (61.9 % vs 20.3 %; p < 0.0001, hip arthritis (47.6 % vs 13.6 %;p = 0.001), ASDAS (3.03 ± 0.64 vs 2.59 ± 0.79; p = 0.02), BASDAI (3.4 ± 1.1 vs 2.7 ± 1.3;p = 0.03), BASFI (4.7 ± 1.1 vs 3.1 ± 1.3; p < 0.0001) and mSASSS (17 vs 0) were significantly higher in r-axSpA.

Conclusion

Characteristics of axSpA of Egyptian patients are comparable with those of other patients across the world. By comparing r-axSpA and nr-axSPA patients, both groups are significantly different regarding sex, smoking, hip arthritis, disease activity scores and mSASSS.

背景轴性脊柱关节炎（axSpA）是一种慢性、免疫介导的炎症性疾病，累及骶髂关节（SI）、脊柱、内膜和外周关节。根据是否存在放射性骶髂关节炎，它包括放射性轴向SpA（r-axSPA）和非放射性轴向SpA（nr-axSPA）。研究目的研究axSpA的人口统计学特征、临床表现和影像学特征，并评估r-axSpA和nr-axSpA之间的差异。所有患者均接受了详细的病史、疾病活动度评估、功能状态、实验室检查和影像学检查。评估了巴斯强直性脊柱炎疾病活动度指数（BASDAI）、强直性脊柱炎疾病活动度评分（ASDAS）和巴斯强直性脊柱炎功能指数（BASFI）。采用斯托克强直性脊柱炎脊柱评分（mSASSS）对骶髂关节炎进行放射学评估。结果80名强直性脊柱炎患者中，59人（73.8%）为非强直性脊柱炎，21人（26.3%）为强直性脊柱炎。患者的平均年龄为 35 ± 8.6（18-55 岁）。男性 43 人（53.8%），女性 37 人（46.3%），病程中位数为 6.5 年（0.5-22 年）。人类白细胞抗原阳性者占 16.3%，银屑病患者占 13.8%。吸烟（61.9 % vs 20.3 %; p < 0.0001）、髋关节炎（47.6 % vs 13.6 %; p = 0.001）、ASDAS（3.03 ± 0.64 vs 2.59 ± 0.79; p = 0.02）、BASDAI（3.4 ± 1.1 vs 2.7 ± 1.3; p = 0.03）、BASFI（4.7 ± 1.1 vs 3.结论埃及axSpA患者的特征与世界其他国家的患者相似。通过比较 r-axSpA 和 nr-axSPA 患者，两组患者在性别、吸烟、髋关节炎、疾病活动度评分和 mSASSS 方面存在明显差异。

{"title":"Demographic, clinical and imaging characteristics of axial spondyloarthritis patients","authors":"Nashwa A Morshedy , Mohamed S Abdelbaky , Sameh A Hassan , Noha MG Mohey Eldeen , Mohamed G Hassan , Alshymaa M Farouk","doi":"10.1016/j.ejr.2024.04.002","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.04.002","url":null,"abstract":"<div><h3>Background</h3><p>Axial spondyloarthritis (axSpA) is a chronic, immune-mediated inflammatory disorder involving the sacroiliac (SI) joints, spine, entheses and peripheral joints. It encompasses both radiographic (r-axSPA) and non-radiographic (nr-axSPA) axial SpA according to the presence or absence of radiographic sacroiliitis.</p></div><div><h3>Aim of the work</h3><p>To study the demographic features, clinical manifestations and imaging characteristics of axSpA and to assess the differences between r-axSpA and nr-axSpA.</p></div><div><h3>Patients and methods</h3><p>This study was conducted on 80 axSpA patients. All Patients were subjected to detailed medical history, assessment of disease activity, functional status, laboratory investigations and imaging.Bath AS Disease Activity Index (BASDAI), AS disease activity score (ASDAS), Bath AS Functional Index (BASFI) were assessed. Radiographic sacroiliitis was assessed using the Stoke Ankylosing Spondylitis Spinal Score (mSASSS).</p></div><div><h3>Results</h3><p>The 80 axSpA patients were 59 (73.8 %) nr-axSpA and 21 (26.3 %) with r-axSpA. The mean age of the patients was 35 ± 8.6 (18–55 years). 43 (53.8 %) were males and 37 (46.3 %) females and the median disease duration was 6.5 years (0.5–22 years). Human leucocytic antigen was positive in 16.3 % and psoriasis was present in 13.8 %. Smoking (61.9 % vs 20.3 %; p < 0.0001, hip arthritis (47.6 % vs 13.6 %;p = 0.001), ASDAS (3.03 ± 0.64 vs 2.59 ± 0.79; p = 0.02), BASDAI (3.4 ± 1.1 vs 2.7 ± 1.3;p = 0.03), BASFI (4.7 ± 1.1 vs 3.1 ± 1.3; p < 0.0001) and mSASSS (17 vs 0) were significantly higher in r-axSpA.</p></div><div><h3>Conclusion</h3><p>Characteristics of axSpA of Egyptian patients are comparable with those of other patients across the world. By comparing r-axSpA and nr-axSPA patients, both groups are significantly different regarding sex, smoking, hip arthritis, disease activity scores and mSASSS.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 135-141"},"PeriodicalIF":0.9,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140641241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Role of musculoskeletal ultrasonography in the assessment of disease activity in juvenile idiopathic arthritis children 肌肉骨骼超声波检查在评估幼年特发性关节炎患儿疾病活动性中的作用

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-04-18 DOI: 10.1016/j.ejr.2024.04.004

Tasneem E. El Naggar , Samah I. Nasef , Mohsen H. Elshahaly , Kareem M. El Ashry , Aziza S. Omar

Aim of the work

To assess synovitis and disease activity by musculoskeletal ultrasound (MSUS) and clinical examination in children with juvenile idiopathic arthritis (JIA).

Patients and methods

Forty-one JIA patients underwent clinical examination of the joints, juvenile arthritis disease activity score (JADAS-27) assessment, and laboratory investigations. Twenty-four joints for each patient were evaluated by MSUS, including knees, wrists, 10 proximal interphalangeal, and 10 metacarpophalangeal. The parameters evaluated were synovial effusion, hypertrophy, effusion plus hypertrophy, tenosynovitis, and subclinical synovitis based on the Outcome Measures in Rheumatology definitions.

Results

The mean age of children was 11.7 ± 3.2 years, the disease duration was 4.2 ± 2.6 years and they were polyarticular (n = 22), oligoarticular (n = 12), systemic onset (n = 6) and one had ERA. They were 29 females and 12 males. The mean JADAS27 was 7.7 ± 6.9. The total number of joints assessed clinically and by MSUS was 984. 107 (10.9 %) joints showed clinical findings, while 135 (13.7 %) showed ultrasonographic features of synovitis. On clinical examination, 17 (15.9 %) joints had limited range of motion, and 90 (84 %) joints were tender including 38 (35.5 %) swollen. On MSUS examination, 28 (20.7 %) joints showed synovial effusion, 79 (58.5 %) hypertrophy, and 28 (20.7 %) had both synovial effusion and hypertrophy. Power Doppler signals were detected in 27 joints. MSUS detected subclinical synovitis in 60 (6.1 %) joints. Synovial effusion plus hypertrophy showed moderate concordance with joint swelling (k = 0.42).

Conclusion

The MSUS examination has a significant role in the detection of synovitis and the evaluation of disease activity in JIA patients. It is more sensitive than clinical examination.

工作目的通过肌肉骨骼超声（MSUS）和临床检查评估幼年特发性关节炎（JIA）患儿的滑膜炎和疾病活动度。患者和方法 41 名 JIA 患者接受了关节临床检查、幼年关节炎疾病活动度评分（JADAS-27）评估和实验室检查。MSUS 对每位患者的 24 个关节进行了评估，包括膝关节、腕关节、10 个近端指间关节和 10 个掌指关节。结果患儿的平均年龄为（11.7±3.2）岁，病程为（4.2±2.6）年，有多关节炎（22 例）、少关节炎（12 例）、全身发病（6 例）和ERA。其中女性 29 人，男性 12 人。JADAS27的平均值为7.7 ± 6.9。经临床和 MSUS 评估的关节总数为 984 个。107个关节（10.9%）显示出临床症状，135个关节（13.7%）显示出滑膜炎的超声特征。在临床检查中，17 个（15.9%）关节活动范围受限，90 个（84%）关节有触痛，其中 38 个（35.5%）关节肿胀。在 MSUS 检查中，28 个（20.7%）关节出现滑膜渗出，79 个（58.5%）关节肥大，28 个（20.7%）关节同时出现滑膜渗出和肥大。27 个关节检测到了动力多普勒信号。MSUS 在 60 个关节（6.1%）中检测到亚临床滑膜炎。结论 MSUS 检查在检测 JIA 患者滑膜炎和评估疾病活动性方面具有重要作用。结论 MSUS 检查在检测 JIA 患者滑膜炎和评估疾病活动性方面具有重要作用，其敏感性高于临床检查。

{"title":"Role of musculoskeletal ultrasonography in the assessment of disease activity in juvenile idiopathic arthritis children","authors":"Tasneem E. El Naggar , Samah I. Nasef , Mohsen H. Elshahaly , Kareem M. El Ashry , Aziza S. Omar","doi":"10.1016/j.ejr.2024.04.004","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.04.004","url":null,"abstract":"<div><h3>Aim of the work</h3><p>To assess synovitis and disease activity by musculoskeletal ultrasound (MSUS) and clinical examination in children with juvenile idiopathic arthritis (JIA).</p></div><div><h3>Patients and methods</h3><p>Forty-one JIA patients underwent clinical examination of the joints, juvenile arthritis disease activity score (JADAS-27) assessment, and laboratory investigations. Twenty-four joints for each patient were evaluated by MSUS, including knees, wrists, 10 proximal interphalangeal, and 10 metacarpophalangeal. The parameters evaluated were synovial effusion, hypertrophy, effusion plus hypertrophy, tenosynovitis, and subclinical synovitis based on the Outcome Measures in Rheumatology definitions.</p></div><div><h3>Results</h3><p>The mean age of children was 11.7 ± 3.2 years, the disease duration was 4.2 ± 2.6 years and they were polyarticular (n = 22), oligoarticular (n = 12), systemic onset (n = 6) and one had ERA. They were 29 females and 12 males. The mean JADAS27 was 7.7 ± 6.9. The total number of joints assessed clinically and by MSUS was 984. 107 (10.9 %) joints showed clinical findings, while 135 (13.7 %) showed ultrasonographic features of synovitis. On clinical examination, 17 (15.9 %) joints had limited range of motion, and 90 (84 %) joints were tender including 38 (35.5 %) swollen. On MSUS examination, 28 (20.7 %) joints showed synovial effusion, 79 (58.5 %) hypertrophy, and 28 (20.7 %) had both synovial effusion and hypertrophy. Power Doppler signals were detected in 27 joints. MSUS detected subclinical synovitis in 60 (6.1 %) joints. Synovial effusion plus hypertrophy showed moderate concordance with joint swelling (k = 0.42).</p></div><div><h3>Conclusion</h3><p>The MSUS examination has a significant role in the detection of synovitis and the evaluation of disease activity in JIA patients. It is more sensitive than clinical examination.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 125-129"},"PeriodicalIF":0.9,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140604717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expression of hsa-let-7f-5p and serum levels of interleukin-10, cystatin-C and transforming growth factor-beta in systemic lupus erythematosus patients with lupus nephritis 系统性红斑狼疮合并狼疮性肾炎患者体内 hsa-let-7f-5p 的表达以及白细胞介素-10、胱抑素-C 和转化生长因子-β 的血清水平

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-04-18 DOI: 10.1016/j.ejr.2024.04.005

Dina M. Mekawy , Manar M. Abdel-Aziz , Raghda E. Ibrahim , Shaimaa A.K. Rady , Mohamed T. Hegazy , Reham A. Dwedar , Reham M. Raafat Hamed

Aim of the work

To investigate the impact of mi-RNA (hsa-let-7f-5p) expression, levels of cystatin C, serum interleukin-10 (IL-10), and transforming-growth-factor-beta (TGF-β) in systemic lupus erythematosus (SLE) patients with and without lupus nephritis (LN).

Patients and methods

The work included 60 SLE patients: thirty with and thirty without LN, along with thirty matched controls. The SLE disease activity index (SLEDAI) was assessed. Enzyme-linked-immunosorbent-assay (ELISA) was used to evaluate serum levels of TGF-β, IL-10, and Cystatin-C and expression of mi-RNA Let-7f-5p quantified using real-time polymerized-chain-reaction (PCR).

Results

The mean age of LN patients was 31.6 ± 8.4 years, twenty-eight females and 2 males. mi-RNA Let-7f-5p, serum TGFβ, IL10, and cystatin C were significantly higher in those with LN (4.4 ± 2, 357.6 ± 50.8 ng/mL, 173.1 ± 18 pg/mL and 8.03 ± 1.96 ng/mL) compared to case without (2.5 ± 0.92, 319.7 ± 44.4 ng/mL, 108.8 ± 22.8 pg/mL, and 3.43 ± 1.1 ng/mL) and control (1.03 ± 0.07, 210.3 ± 18.6 ng/mL, 56 ± 18.5 pg/mL and 2.53 ± 1.1 ng/ml)(p < 0.001). In LN, mi-RNA Let-7f-5p and IL10 were significantly different in those with oral ulcers (n = 8)(p = 0.03, and p = 0.01 respectively). mi-RNA Let-7f-5p and TGF-β were significantly lower in those with headache (n = 3)(p < 0.001, and p = 0.04 respectively). In patients without LN, TGF-β was significantly lower in those with malar rash (n = 10)(p = 0.04) and serum cystatin-C was lower in those with arthritis (n = 12)(p = 0.02). In LN, IL-10 significantly correlated with disease duration (r = 0.38,p = 0.04) and cystatin-C inversely with platelets (r = -0.42,p = 0.02), Cystatin-C correlated with mi-RNA Let-7f-5p (r = 0.45,p = 0.01) and inversely with SLEDAI (r = -0.44,p = 0.01).

Conclusion

The potential role of mi-RNA Let-7f-5p on LN with the possible involvement of TGFβ, IL10, and cystatin-C in the pathophysiology of both SLE and LN.

患者和方法这项研究包括 60 名系统性红斑狼疮（SLE）患者：30 名伴有和不伴有狼疮肾炎（LN），以及 30 名匹配的对照组。评估了系统性红斑狼疮疾病活动指数（SLEDAI）。结果 LN 患者的平均年龄为 31.6 ± 8.4 岁，其中女性 28 人，男性 2 人。LN 患者的 mi-RNA Let-7f-5p、血清 TGFβ、IL10 和胱抑素 C（4.4 ± 2、357.6 ± 50.8 ng/mL、173.1 ± 18 pg/mL 和 8.03 ± 1.96 ng/mL）明显高于非 LN 患者（2.5±0.92、319.7±44.4 ng/mL、108.8±22.8 pg/mL和3.43±1.1 ng/mL）和对照组（1.03±0.07、210.3±18.6 ng/mL、56±18.5 pg/mL和2.53±1.1 ng/ml）相比（p <0.001）。在 LN 中，mi-RNA Let-7f-5p 和 IL10 在口腔溃疡患者（n = 8）中有显著差异（分别为 p = 0.03 和 p = 0.01）；mi-RNA Let-7f-5p 和 TGF-β 在头痛患者（n = 3）中显著降低（分别为 p < 0.001 和 p = 0.04）。在无 LN 的患者中，有跖皮疹的患者 TGF-β 明显较低（10 人）（p = 0.04），有关节炎的患者血清胱抑素-C 较低（12 人）（p = 0.02）。在 LN 中，IL-10 与病程明显相关（r = 0.38，p = 0.04），胱抑素-C 与血小板成反比（r = -0.42，p = 0.02），胱抑素-C 与 mi-RNA Let-7f-5p 相关（r = 0.45，p = 0.结论mi-RNA Let-7f-5p对LN的潜在作用以及TGFβ、IL10和胱抑素-C可能参与了系统性红斑狼疮和LN的病理生理学。

{"title":"Expression of hsa-let-7f-5p and serum levels of interleukin-10, cystatin-C and transforming growth factor-beta in systemic lupus erythematosus patients with lupus nephritis","authors":"Dina M. Mekawy , Manar M. Abdel-Aziz , Raghda E. Ibrahim , Shaimaa A.K. Rady , Mohamed T. Hegazy , Reham A. Dwedar , Reham M. Raafat Hamed","doi":"10.1016/j.ejr.2024.04.005","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.04.005","url":null,"abstract":"<div><h3>Aim of the work</h3><p>To investigate the impact of mi-RNA (hsa-let-7f-5p) expression, levels of cystatin C, serum interleukin-10 (IL-10), and transforming-growth-factor-beta (TGF-β) in systemic lupus erythematosus (SLE) patients with and without lupus nephritis (LN).</p></div><div><h3>Patients and methods</h3><p>The work included 60 SLE patients: thirty with and thirty without LN, along with thirty matched controls. The SLE disease activity index (SLEDAI) was assessed. Enzyme-linked-immunosorbent-assay (ELISA) was used to evaluate serum levels of TGF-β, IL-10, and Cystatin-C and expression of mi-RNA Let-7f-5p quantified using real-time polymerized-chain-reaction (PCR).</p></div><div><h3>Results</h3><p>The mean age of LN patients was 31.6 ± 8.4 years, twenty-eight females and 2 males. mi-RNA Let-7f-5p, serum TGFβ, IL10, and cystatin C were significantly higher in those with LN (4.4 ± 2, 357.6 ± 50.8 ng/mL, 173.1 ± 18 pg/mL and 8.03 ± 1.96 ng/mL) compared to case without (2.5 ± 0.92, 319.7 ± 44.4 ng/mL, 108.8 ± 22.8 pg/mL, and 3.43 ± 1.1 ng/mL) and control (1.03 ± 0.07, 210.3 ± 18.6 ng/mL, 56 ± 18.5 pg/mL and 2.53 ± 1.1 ng/ml)(p < 0.001). In LN, mi-RNA Let-7f-5p and IL10 were significantly different in those with oral ulcers (n = 8)(p = 0.03, and p = 0.01 respectively). mi-RNA Let-7f-5p and TGF-β were significantly lower in those with headache (n = 3)(p < 0.001, and p = 0.04 respectively). In patients without LN, TGF-β was significantly lower in those with malar rash (n = 10)(p = 0.04) and serum cystatin-C was lower in those with arthritis (n = 12)(p = 0.02). In LN, IL-10 significantly correlated with disease duration (r = 0.38,p = 0.04) and cystatin-C inversely with platelets (r = -0.42,p = 0.02), Cystatin-C correlated with mi-RNA Let-7f-5p (r = 0.45,p = 0.01) and inversely with SLEDAI (r = -0.44,p = 0.01).</p></div><div><h3>Conclusion</h3><p>The potential role of mi-RNA Let-7f-5p on LN with the possible involvement of TGFβ, IL10, and cystatin-C in the pathophysiology of both SLE and LN.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 130-134"},"PeriodicalIF":0.9,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140618611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical characteristics of systemic lupus erythematosus in Al Qassim region of Saudi Arabia 沙特阿拉伯 Al Qassim 地区系统性红斑狼疮的临床特征

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-04-17 DOI: 10.1016/j.ejr.2024.04.003

Ahmad AlShomar , Idris Sula , Hussam A. Alsulmi , Mohamed Mahmoud Bakr

Aim of the work

The aim of the study is to explore the clinical manifestations, laboratory findings, and management of systemic lupus erythematosus (SLE) patients in Al Qassim region of Saudi Arabia.

Patients and methods

The clinical data, laboratory investigations, medications received and co-morbidities from SLE patients in Al Qassim region of Saudi Arabia were recorded.

Results

The 96 SLE patients were 87 (90.63 %) Saudi. 83 (86.5 %) were females and 13 (13.5 %) males (F:M 6.3:1). The mean age of the patients was 37.4 ± 11.9 years; at time of diagnosis was 32.3 ± 11.1 years, disease duration 5.1 ± 5.8 years. 9.3 % were hypertensive. The most common clinical manifestations were musculoskeletal (79 %) and constitutional (77 %) followed by mucocutaneous (42 %). Lupus nephritis was diagnosed in 25 % of patients and was confirmed by renal biopsy in 13.5 %. 4.2 % had thromboembolic disorders. Co-morbidities were present in 25 % and pregnancy complications were reported in 18 % of the females. Anemia was present in 63.5 %, leukopenia in 20 % and thrombocytopenia in 15 %. All patients tested positive for antinuclear antibodies, 80 % positive for anti-double-stranded deoxyribonucleic acid and 42.7 % anti-Smith. Antiphospholipid antibodies were detected in 46 % of patients and rheumatoid factor in 15.6 %. 93.8 % of patients received hydroxychloroquine, 76 % received steroids, 29.2 % mycophenolate mofetil, 4 patients received rituximab and 3 belimumab.

Conclusion

The most common clinical disease profile in SLE patients from AlQassim was musculoskeletal and constitutional symptoms. 25 % of the patients had LN and 25 % had co-morbidities. Anemia is a common laboratory finding, and hydroxychloroquine is the most common treatment.

这项研究的目的是探讨沙特阿拉伯卡西姆地区系统性红斑狼疮（SLE）患者的临床表现、实验室检查结果和治疗方法。患者和方法记录了沙特阿拉伯卡西姆地区系统性红斑狼疮患者的临床数据、实验室检查结果、接受的药物治疗和并发症。其中 83 人（86.5%）为女性，13 人（13.5%）为男性（男女比例为 6.3:1）。患者的平均年龄为（37.4 ± 11.9）岁；确诊时的年龄为（32.3 ± 11.1）岁，病程为（5.1 ± 5.8）年。高血压患者占 9.3%。最常见的临床表现是肌肉骨骼（79%）和体质（77%），其次是粘膜（42%）。25%的患者被诊断为狼疮性肾炎，13.5%的患者通过肾活检得到确诊。4.2%的患者患有血栓栓塞性疾病。25% 的患者患有并发症，18% 的女性患者出现妊娠并发症。63.5%的患者贫血，20%的患者白细胞减少，15%的患者血小板减少。所有患者的抗核抗体均呈阳性，80%的患者抗双链脱氧核糖核酸抗体呈阳性，42.7%的患者抗史密斯抗体呈阳性。46% 的患者检测出抗磷脂抗体，15.6% 的患者检测出类风湿因子。93.8%的患者接受了羟氯喹治疗，76%接受了类固醇治疗，29.2%接受了霉酚酸酯治疗，4名患者接受了利妥昔单抗治疗，3名患者接受了贝利木单抗治疗。25%的患者有LN，25%的患者有并发症。贫血是常见的实验室检查结果，羟氯喹是最常见的治疗方法。

{"title":"Clinical characteristics of systemic lupus erythematosus in Al Qassim region of Saudi Arabia","authors":"Ahmad AlShomar , Idris Sula , Hussam A. Alsulmi , Mohamed Mahmoud Bakr","doi":"10.1016/j.ejr.2024.04.003","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.04.003","url":null,"abstract":"<div><h3>Aim of the work</h3><p>The aim of the study is to explore the clinical manifestations, laboratory findings, and management of systemic lupus erythematosus (SLE) patients in Al Qassim region of Saudi Arabia.</p></div><div><h3>Patients and methods</h3><p>The clinical data, laboratory investigations, medications received and co-morbidities from SLE patients in Al Qassim region of Saudi Arabia were recorded.</p></div><div><h3>Results</h3><p>The 96 SLE patients were 87 (90.63 %) Saudi. 83 (86.5 %) were females and 13 (13.5 %) males (F:M 6.3:1). The mean age of the patients was 37.4 ± 11.9 years; at time of diagnosis was 32.3 ± 11.1 years, disease duration 5.1 ± 5.8 years. 9.3 % were hypertensive. The most common clinical manifestations were musculoskeletal (79 %) and constitutional (77 %) followed by mucocutaneous (42 %). Lupus nephritis was diagnosed in 25 % of patients and was confirmed by renal biopsy in 13.5 %. 4.2 % had thromboembolic disorders. Co-morbidities were present in 25 % and pregnancy complications were reported in 18 % of the females. Anemia was present in 63.5 %, leukopenia in 20 % and thrombocytopenia in 15 %. All patients tested positive for antinuclear antibodies, 80 % positive for anti-double-stranded deoxyribonucleic acid and 42.7 % anti-Smith. Antiphospholipid antibodies were detected in 46 % of patients and rheumatoid factor in 15.6 %. 93.8 % of patients received hydroxychloroquine, 76 % received steroids, 29.2 % mycophenolate mofetil, 4 patients received rituximab and 3 belimumab.</p></div><div><h3>Conclusion</h3><p>The most common clinical disease profile in SLE patients from AlQassim was musculoskeletal and constitutional symptoms. 25 % of the patients had LN and 25 % had co-morbidities. Anemia is a common laboratory finding, and hydroxychloroquine is the most common treatment.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 121-124"},"PeriodicalIF":0.9,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140604716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pattern of uveitis in Behçet’s disease patients from a highly specialized university hospital-based tertiary care eye unit 一家高度专业化的大学医院眼科三级护理病房的贝赫切特病患者葡萄膜炎模式

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-04-17 DOI: 10.1016/j.ejr.2024.04.001

Radwa Elzanaty , Amr M.A. Wassef , Mina Seif , Mariam Fadel

Aim of the work

To determine the frequency and pattern of ocular manifestations including uveitis associated with Behcet’s disease (BD) in patients referred to a hospital-based tertiary care eye unit.

Patients and methods

This study included BD patients referred to the Uveitis Clinic, Cairo University Hospitals. Patterns of systemic and ocular disease were documented. Treatment and complications occurring during follow-up were added.

Results

The study included 113 patients (208 eyes). 86 % were males and 14 % females. Their mean age was 32.1 ± 9.5 years. Time lapse from diagnosis to referral was 3.8 ± 4.9 years. 15.9 % had unilateral eye involvement and 84.1 % bilateral. Most common presentation was panuveitis in 64.4 % of eyes, whereas 22.6 % presented with isolated posterior uveitis and 12 % with anterior uveitis. Vasculitis was a common finding at presentation in 27.4 %. During the course of ocular disease the most frequent complication was cataract in 27.4 % and 33 % of patients did not develop complications. At presentation, 47.6 % of eyes were worsening despite treatment, 28.8 % were stationary, 16.3 % were controlled and 7.2 % were improving. The mean best corrected visual acuity dropped from 0.48 ± 2.36 to 0.29 ± 0.32 between presentation and last follow up. Visual acuity was significantly reduced in those with panuveitis and optic neuritis (p < 0.001). End-stage eye disease was present in 7.2 % at presentation.

Conclusion

Ocular Behcet’s is a frequent finding, especially panuveitis. Retinal vasculitis is not uncommon. Delayed referral to tertiary care eye unit remains a loop hole in the health care system. Cataract is a common complication during the course of the disease.

工作目的确定转诊到医院眼科三级护理病房的白塞氏病（BD）患者眼部表现（包括葡萄膜炎）的频率和模式。记录了全身和眼部疾病的模式。此外，还对随访期间的治疗和并发症进行了补充。86%为男性，14%为女性。他们的平均年龄为 32.1 ± 9.5 岁。从确诊到转诊的时间间隔为（3.8 ± 4.9）年。15.9%的患者为单眼受累，84.1%为双眼受累。64.4%的患者表现为泛葡萄膜炎，22.6%的患者表现为孤立的后葡萄膜炎，12%的患者表现为前葡萄膜炎。脉管炎是常见的病症，占 27.4%。在眼部疾病的病程中，最常见的并发症是白内障，占 27.4%，33% 的患者没有出现并发症。就诊时，47.6%的患者尽管接受了治疗，但病情仍在恶化，28.8%的患者病情稳定，16.3%的患者病情得到控制，7.2%的患者病情正在好转。从发病到最后一次随访期间，平均最佳矫正视力从 0.48 ± 2.36 降至 0.29 ± 0.32。患有泛葡萄膜炎和视神经炎的患者视力明显下降（p < 0.001）。结论眼部白塞氏病是一种常见病，尤其是泛葡萄膜炎。视网膜血管炎并不少见。延迟转诊至三级眼科医疗机构仍然是医疗保健系统中的一个漏洞。白内障是病程中常见的并发症。

{"title":"Pattern of uveitis in Behçet’s disease patients from a highly specialized university hospital-based tertiary care eye unit","authors":"Radwa Elzanaty , Amr M.A. Wassef , Mina Seif , Mariam Fadel","doi":"10.1016/j.ejr.2024.04.001","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.04.001","url":null,"abstract":"<div><h3>Aim of the work</h3><p>To determine the frequency and pattern of ocular manifestations including uveitis associated with Behcet’s disease (BD) in patients referred to a hospital-based tertiary care eye unit.</p></div><div><h3>Patients and methods</h3><p>This study included BD patients referred to the Uveitis Clinic, Cairo University Hospitals. Patterns of systemic and ocular disease were documented. Treatment and complications occurring during follow-up were added.</p></div><div><h3>Results</h3><p>The study included 113 patients (208 eyes). 86 % were males and 14 % females. Their mean age was 32.1 ± 9.5 years. Time lapse from diagnosis to referral was 3.8 ± 4.9 years. 15.9 % had unilateral eye involvement and 84.1 % bilateral. Most common presentation was panuveitis in 64.4 % of eyes, whereas 22.6 % presented with isolated posterior uveitis and 12 % with anterior uveitis. Vasculitis was a common finding at presentation in 27.4 %. During the course of ocular disease the most frequent complication was cataract in 27.4 % and 33 % of patients did not develop complications. At presentation, 47.6 % of eyes were worsening despite treatment, 28.8 % were stationary, 16.3 % were controlled and 7.2 % were improving. The mean best corrected visual acuity dropped from 0.48 ± 2.36 to 0.29 ± 0.32 between presentation and last follow up. Visual acuity was significantly reduced in those with panuveitis and optic neuritis (p < 0.001). End-stage eye disease was present in 7.2 % at presentation.</p></div><div><h3>Conclusion</h3><p>Ocular Behcet’s is a frequent finding, especially panuveitis. Retinal vasculitis is not uncommon. Delayed referral to tertiary care eye unit remains a loop hole in the health care system. Cataract is a common complication during the course of the disease.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 112-116"},"PeriodicalIF":0.9,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140557745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Transforming growth factor-β1 gene polymorphism in systemic lupus erythematosus female patients 系统性红斑狼疮女性患者的转化生长因子-β1基因多态性

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-04-17 DOI: 10.1016/j.ejr.2024.03.002

Maha A. AbouelAzm , Samia M.H. Fadda , Noha A. Doudar , Shaimaa A.K. Rady

Aim of the work

To investigate whether transforming growth factor beta-1 (TGF-β1) (rs1800469) single nucleotide polymorphism (SNP) is associated with systemic lupus erythematosus (SLE) susceptibility and/or activity in Egyptian patients.

Patients and methods

This work included 70 SLE female SLE and 70 matched control. The SLE disease activity index (SLEDAI) and systemic lupus international collaborative clinics damage index (SLICC-DI) were assessed. The Taq Man allelic discrimination technique was applied for the genotyping of TGF-β1 (rs1800469) (SNP).

Results

The mean age of the patients was 29.9 ± 9 years, disease duration 4.29 ± 4.33 years and 4 (5.7 %) cases were juvenile. The antinuclear antibody was positive in all patients, anti-double stranded deoxyribonucleic acid in 57.1 %, the SLEDAI was 15.6 ± 7.8 (4–38) and SLICC-DI 0.3 ± 0.6 (0–3). Frequency of the AA genotype (n = 9) was higher in patients with discoid rash (n = 3, 33.3 %) than the GG genotype (n = 4/34, 11.7 %)(p = 0.01). Patients had a comparable frequency of the GG (48.6 % vs 50 %), GA (38.6 % vs 37.1 %) and AA (12.9 % vs 12.9 %) genotypes compared to the control (p = 0.98). There was no significant difference detected regarding the distribution of genotypes according to the SLEDAI (p = 0.66) and SLICC-DI (p = 0.96).

Conclusion

There was no association between the TGF-β1 gene (rs1800469) A/G SNP and disease activity and damage. The carriers of the GG variant of TGF-β1 rs1800469 SNP may be at higher risk of developing specific clinical manifestations such as discoid rash.

工作目的研究埃及患者的转化生长因子β-1（TGF-β1）（rs1800469）单核苷酸多态性（SNP）是否与系统性红斑狼疮（SLE）的易感性和/或活动性有关。评估了系统性红斑狼疮疾病活动指数（SLEDAI）和系统性红斑狼疮国际合作诊所损害指数（SLICC-DI）。结果患者的平均年龄为（29.9±9）岁，病程为（4.29±4.33）年，4 例（5.7%）患者为青少年。所有患者的抗核抗体均呈阳性，抗双链脱氧核糖核酸抗体呈阳性者占 57.1%，SLEDAI 为 15.6 ± 7.8 (4-38)，SLICC-DI 为 0.3 ± 0.6 (0-3)。在盘状皮疹患者中，AA 基因型（n = 9）的频率（n = 3，33.3%）高于 GG 基因型（n = 4/34，11.7%）（p = 0.01）。与对照组相比，患者的 GG（48.6 % vs 50 %）、GA（38.6 % vs 37.1 %）和 AA（12.9 % vs 12.9 %）基因型频率相当（p = 0.98）。结论 TGF-β1 基因 (rs1800469) A/G SNP 与疾病活动和损害之间没有关联。TGF-β1 基因（rs1800469）A/G SNP 的 GG 变异携带者出现盘状皮疹等特殊临床表现的风险可能较高。

{"title":"Transforming growth factor-β1 gene polymorphism in systemic lupus erythematosus female patients","authors":"Maha A. AbouelAzm , Samia M.H. Fadda , Noha A. Doudar , Shaimaa A.K. Rady","doi":"10.1016/j.ejr.2024.03.002","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.03.002","url":null,"abstract":"<div><h3>Aim of the work</h3><p>To investigate whether transforming growth factor beta-1 (TGF-β1) (rs1800469) single nucleotide polymorphism (SNP) is associated with systemic lupus erythematosus (SLE) susceptibility and/or activity in Egyptian patients.</p></div><div><h3>Patients and methods</h3><p>This work included 70 SLE female SLE and 70 matched control. The SLE disease activity index (SLEDAI) and systemic lupus international collaborative clinics damage index (SLICC-DI) were assessed. The Taq Man allelic discrimination technique was applied for the genotyping of TGF-β1 (rs1800469) (SNP).</p></div><div><h3>Results</h3><p>The mean age of the patients was 29.9 ± 9 years, disease duration 4.29 ± 4.33 years and 4 (5.7 %) cases were juvenile. The antinuclear antibody was positive in all patients, anti-double stranded deoxyribonucleic acid in 57.1 %, the SLEDAI was 15.6 ± 7.8 (4–38) and SLICC-DI 0.3 ± 0.6 (0–3). Frequency of the AA genotype (n = 9) was higher in patients with discoid rash (n = 3, 33.3 %) than the GG genotype (n = 4/34, 11.7 %)(p = 0.01). Patients had a comparable frequency of the GG (48.6 % vs 50 %), GA (38.6 % vs 37.1 %) and AA (12.9 % vs 12.9 %) genotypes compared to the control (p = 0.98). There was no significant difference detected regarding the distribution of genotypes according to the SLEDAI (p = 0.66) and SLICC-DI (p = 0.96).</p></div><div><h3>Conclusion</h3><p>There was no association between the TGF-β1 gene (rs1800469) A/G SNP and disease activity and damage. The carriers of the GG variant of TGF-β1 rs1800469 SNP may be at higher risk of developing specific clinical manifestations such as discoid rash.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 117-120"},"PeriodicalIF":0.9,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140557746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sleep disorders in rheumatoid arthritis patients 类风湿性关节炎患者的睡眠障碍

IF 0.9 Q4 RHEUMATOLOGY

Egyptian Rheumatologist

Pub Date : 2024-04-06 DOI: 10.1016/j.ejr.2024.03.001

Mouna Brahem , Azer Chebil , Hayfa Abid , Olfa Jomaa , Rihab Sarraj , Besma Jebali , Sirine Abdellatif , Amani ben Salem , Haifa Hachfi , Khalifa Mighri , Mohamed Younes

Aim of the work

To determine the frequency of sleep disturbances in patients with rheumatoid arthritis (RA) and to identify associated factors.

Patients and methods

This study included 100 RA patients. The disease activity score (DAS28), tender joint count (TJC), swollen joint count (SJC), Visual Analog Scale (VAS)-pain and Health Assessment Questionnaire (HAQ) were assessed. Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were used to assess sleep quality.

Results

The patients were 89 females and 11 males, mean age 53.2 ± 11.2 years (21–76 years) and disease duration was 11.1 ± 8.9 years (1–40 years).The meanTJC was 8.5 ± 7.9 (0–24), SJC 4 ± 4.8 (0–24) and VAS 51 ± 21 mm (10–90 mm). Their mean DAS28 was 3.9 ± 1.1 (1–6.15) and HAQ 1.3 ± 0.7 (0–2.9). The ESS was 7.9 ± 5.6 (0–24). 28 % of patients had signs of daytime sleepiness (ESS ≥ 11 points) with a significant association with female sex (p = 0.03), TJC (p = 0.03), SJC (p = 0.02), DAS28 (p = 0.05), VAS (p = 0.04) and HAQ (p < 0.01). The mean Pittsburgh score was 6.9 ± 5.1 (0–19). 51 % of patients had disturbed sleep (PSQI > 5.5 points). The most disturbed components were respectively sleep latency (1.5 ± 1.1), subjective sleep quality (1.25 ± 0.8) and sleep disorders (1.19 ± 0.8). Disturbed sleep assessed by PSQI had a significant association with TJC (p < 0.01), SJC (p < 0.01), C-reactive protein, nocturnal awakening (p < 0.01), DAS28 (p < 0.01), VAS-pain (p < 0.01), HAQ (p < 0.01), and corticosteroid intake (p = 0.01).

Conclusion

Half of the patients had sleep disorders with a significant association with disease activity parameters which underline the importance of ensuring remission or low level of activity to improve the quality of sleep of patients.

工作目的确定类风湿关节炎（RA）患者睡眠障碍的频率，并找出相关因素。对疾病活动度评分（DAS28）、关节触痛计数（TJC）、关节肿胀计数（SJC）、疼痛视觉模拟量表（VAS）和健康评估问卷（HAQ）进行了评估。结果患者中有 89 名女性和 11 名男性，平均年龄为（53.2±11.2）岁（21-76 岁），病程为（11.1±8.9）年（1-40 年），平均关节肿胀（TJC）为（8.5±7.9）（0-24），关节肿胀（SJC）为（4±4.8）（0-24），VAS 为（51±21）毫米（10-90 毫米）。他们的平均 DAS28 为 3.9 ± 1.1（1-6.15），HAQ 为 1.3 ± 0.7（0-2.9）。ESS为7.9 ± 5.6（0-24）。28% 的患者有白天嗜睡的迹象（ESS ≥ 11 分），这与女性性别（p = 0.03）、TJC（p = 0.03）、SJC（p = 0.02）、DAS28（p = 0.05）、VAS（p = 0.04）和 HAQ（p < 0.01）有显著关联。匹兹堡评分的平均值为 6.9 ± 5.1 (0-19)。51%的患者有睡眠障碍（PSQI 5.5分）。最令人不安的部分分别是睡眠潜伏期（1.5 ± 1.1）、主观睡眠质量（1.25 ± 0.8）和睡眠障碍（1.19 ± 0.8）。通过 PSQI 评估的睡眠紊乱与 TJC（p < 0.01）、SJC（p < 0.01）、C 反应蛋白、夜醒（p < 0.01）、DAS28（p < 0.01）、VAS-疼痛（p < 0.01）、HAQ（p < 0.01）和皮质类固醇摄入量（p = 0.01）有显著相关性。01）。结论半数患者存在睡眠障碍，且与疾病活动参数有显著相关性，这强调了确保缓解或低水平活动对改善患者睡眠质量的重要性。

{"title":"Sleep disorders in rheumatoid arthritis patients","authors":"Mouna Brahem , Azer Chebil , Hayfa Abid , Olfa Jomaa , Rihab Sarraj , Besma Jebali , Sirine Abdellatif , Amani ben Salem , Haifa Hachfi , Khalifa Mighri , Mohamed Younes","doi":"10.1016/j.ejr.2024.03.001","DOIUrl":"https://doi.org/10.1016/j.ejr.2024.03.001","url":null,"abstract":"<div><h3>Aim of the work</h3><p>To determine the frequency of sleep disturbances in patients with rheumatoid arthritis (RA) and to identify associated factors.</p></div><div><h3>Patients and methods</h3><p>This study included 100 RA patients. The disease activity score (DAS28), tender joint count (TJC), swollen joint count (SJC), Visual Analog Scale (VAS)-pain and Health Assessment Questionnaire (HAQ) were assessed. Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were used to assess sleep quality.</p></div><div><h3>Results</h3><p>The patients were 89 females and 11 males, mean age 53.2 ± 11.2 years (21–76 years) and disease duration was 11.1 ± 8.9 years (1–40 years).The meanTJC was 8.5 ± 7.9 (0–24), SJC 4 ± 4.8 (0–24) and VAS 51 ± 21 mm (10–90 mm). Their mean DAS28 was 3.9 ± 1.1 (1–6.15) and HAQ 1.3 ± 0.7 (0–2.9). The ESS was 7.9 ± 5.6 (0–24). 28 % of patients had signs of daytime sleepiness (ESS ≥ 11 points) with a significant association with female sex (p = 0.03), TJC (p = 0.03), SJC (p = 0.02), DAS28 (p = 0.05), VAS (p = 0.04) and HAQ (p < 0.01). The mean Pittsburgh score was 6.9 ± 5.1 (0–19). 51 % of patients had disturbed sleep (PSQI > 5.5 points). The most disturbed components were respectively sleep latency (1.5 ± 1.1), subjective sleep quality (1.25 ± 0.8) and sleep disorders (1.19 ± 0.8). Disturbed sleep assessed by PSQI had a significant association with TJC (p < 0.01), SJC (p < 0.01), C-reactive protein, nocturnal awakening (p < 0.01), DAS28 (p < 0.01), VAS-pain (p < 0.01), HAQ (p < 0.01), and corticosteroid intake (p = 0.01).</p></div><div><h3>Conclusion</h3><p>Half of the patients had sleep disorders with a significant association with disease activity parameters which underline the importance of ensuring remission or low level of activity to improve the quality of sleep of patients.</p></div>","PeriodicalId":46152,"journal":{"name":"Egyptian Rheumatologist","volume":"46 3","pages":"Pages 107-111"},"PeriodicalIF":0.9,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140533878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0