Methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in rheumatoid arthritis patients: Correlation with serum osteopontin levels and disease activity

AbstractBackgroundRheumatoid arthritis (RA) is a systemic, chronic inflammatory disease with genetic predisposition. Osteopontin (OPN) is overexpressed in RA and plays a key role in the perpetuation of synovitis. Not all RA patients show the same level of response to methotrexate (MTX) suggesting genetic variations in the drug-metabolizing enzymes.Aim of the workTo detect methylene-tetra-hydrofolate reductase (MTHFR) 677C/T and 1298A/C gene polymorphisms in RA patients treated with MTX and to investigate the relationship with serum OPN levels and disease activity.Patients and methods62 RA patients and 21 healthy controls were included. Serum OPN was measured using ELISA. Genotyping of MTHFR gene was carried out by polymerase chain reaction-restriction fragment length polymorphism. Disease activity score in 28 joints (DAS28) and the modified health assessment questionnaire (MHAQ) were assessed.ResultsThe patients’ age was 42.7±12.7years, F:M (4.6:1) and a disease duration of 5.7±4.6years. Their DAS28 was 4.1±1.6 and the MHAQ (median 1; range 0–2.3). Serum OPN levels in RA patients (median 8.8; range 4–44.5ng/ml) were significantly higher than in control (5.6; 2.1–10.9) (p=0.002). In RA patients, serum OPN significantly correlated with the duration of morning stiffness (p=0.009), ESR (p<0.0001) and DAS28 (p<0.0001). MTHFR (677C>T) polymorphisms significantly correlated with MHAQ (p=0.012) while (1298A>C) polymorphisms significantly correlated with tender joint count (p=0.04). OPN levels were higher among patients with MTHFR (1298A/C) AC genotype (8.9; 4.1–33.9ng/ml), while in those with (677C>T) polymorphisms it was higher among those with CT genotype (8.9; 4.1–44.5).ConclusionSerum OPN level relates with the degree of rheumatoid activity

Power Doppler ultrasound in the evaluation of hand joints in rheumatoid arthritis patients in clinical remission: Association with composite index scores and functional status

Background: Evaluation of remission in Rheumatoid Arthritis (RA) largely relies on composite scores based on clinical and laboratory assessments however, patients can fulfill clinical remission criteria as defined by composite scores, yet still have evidence of synovitis detectable on imaging. Aim of the work: To evaluate hand and wrist joints in patients with RA in clinical remission using power Doppler (PD) ultrasonography and to study the association between ultrasonographic findings and composite index scores. Patients and methods: This study was conducted on 50 RA patients in clinical remission. Ten matched healthy subjects were included as control. The modified health assessment questionnaire (MHAQ) was assessed in the patients; disease activity was calculated using a composite index score including disease activity score (DAS28) and clinical disease activity index (CDAI). Ultrasonographic assessment of the hand and wrist joints was performed. Results: The mean age of the patients was 50.9 ± 9.2 years, disease duration was 10.6 ± 5.5 years and were 38 females and 12 males. The mean DAS28 was 2.3 ± 0.3. On ultrasonographic examination, 14 (28%) patients had normal synovium, while 18 (36%) showed synovial hypertrophy without evidence of inflammation and 18 (36%) had PD signals. DAS28 was higher in patients with PD signals (2.36 ± 0.3) compared to those without synovitis (2.3 ± 0.28). There was a significant correlation between PD activity and CDAI (p = 0.005), MHAQ (p = 0.002) and disease duration (p = 0.023). Conclusion: Power Doppler ultrasound can detect residual inflammation in RA patients in clinical remission and its scores were signficantly associated with the clinical disease activity index and functional status. Keywords: Rheumatoid arthritis, Remission, Disease activity score-28 (DAS28), Clinical Disease Activity Index (CDAI), Power Doppler ultrasonograph

Coronavirus disease 2019 (COVID-19) an emerging trigger for primary fibromyalgia syndrome: A tale of three cases post-COVID-19

International audienc

Urinary and tissue monocyte chemoattractant protein1 (MCP1) in lupus nephritis patients

Aim of the work: To assess the role of urinary and tissue monocyte chemoattractant protein-1 (MCP-1) in active lupus nephritis (LN) and to correlate the levels with disease activity and renal status. Patients and methods: Urinary and tissue MCP-1 were determined in 42 systemic lupus erythematosus (SLE) patients with LN. 20 matched controls were considered. SLE disease activity index (SLEDAI) was recorded in all patients. Urinary and renal tissue MCP-1 was evaluated. Renal biopsy was performed in active LN patients for histopathological classification and correlation. Results: 22 active LN patients (22.8 ± 4.7 years old) and 20 inactive (24.6 ± 4.3 years old) were studied. They were 39 female and 3 males (F:M 13:1). The urinary MCP-1 was significantly higher in active LN patients (1072.8 ± 658.4 pg/mg creatinine) compared to the inactive group (151.3 ± 103.5 pg/mg creatinine) and both were significantly higher than the level in the controls (19 ± 17.8 pg/mg creatinine) (p < 0.001). A significant correlation was present in the active LN patients between urinary MCP-1 level and proteinuria, anti-dsDNA, renal SLEDAI and biopsy activity index and negatively with C3 and C4. There was a significant correlation of the glomerular MCP-1 renal tissue expression score with the renal SLEDAI, anti-dsDNA, biopsy activity index and urinary MCP-1 and negatively with C3. Tubulointerstitial MCP-1 score significantly correlated with urinary MCP-1. Urinary, glomerular and tubular MCP-1 showed a sensitivity of 97%, 64% and 4% and specificity of 100%, 95% and 20% respectively in detecting LN. Conclusion: MCP-1 could be a valuable marker for LN and disease activity

Damage in rheumatic diseases: Contemporary international standpoint and scores emerging from clinical, radiological and machine learning

In rheumatic diseases, damage is a major concern and reflects irreversible organ scarring or tissue degradation. Quantifying damage or measuring its severity is an indispensable concern in determining the overall outcome. Damage considerably influences both longterm prognosis and quality of life. Rheumatic diseases (RD) represent a significant health burden. Organ damage is consistently associated with increased mortality. Monitoring damage is critical in the evaluation of patients and in appraising treatment efficacy. Proper assessment and early detection of damage paves way for modifying the disease course with effective medications and regimens may reduce organ damage, improve outcomes and decrease mortality. With the exception of systemic lupus erythematosus and vasculitis, most RDs lack an established damage index making it an ongoing demand to develop effective scores and prediction models for damage accrual early in the disease course. A better understanding of machine learning with the increasing availability of medical large data may facilitate the development of meaningful precision medicine for patients with RDs. An updated spectrum of clinical and radiological damage scores and indices as well as the role of machine learning are presented in this review for the key RDs