A study of the association between single nucleotide polymorphisms of the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene and the risk of ankylosing spondylitis in Egyptians.

BACKGROUND: Ankylosing spondylitis (AS) is often regarded as the prototypical manifestation of spondylo-arthropathies that prevalently involves the axial skeleton with the potential attribution of ERAP2 polymorphisms to AS predisposition. The purpose of this study was to determine the genetic association between ERAP2 gene rs2910686, and rs2248374 single nucleotide polymorphisms (SNPs) and the risk of ankylosing spondylitis in the Egyptian population. METHODS AND RESULTS: A cross-sectional work involved 200 individuals: 100 AS individuals diagnosed based on modified New York criteria in 1984 with 100 healthy controls matched in age and gender. The study included a comprehensive evaluation of historical data, clinical examinations, and evaluation of the activity of the disease using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). A comprehensive laboratory and radiological evaluation were conducted, accompanied by an assessment and genotyping of the ERAP2 gene variants rs2248374 and rs2910686. This genotyping was performed utilizing a real-time allelic discrimination methodology.Highly statistically substantial variations existed among the AS patients and the healthy control group regarding rs2910686 and rs2248374 alleles. There was a statistically significant difference between rs2910686 and rs2248374 regarding BASDAI, BASFI, mSASSS, ASQoL, V.A.S, E.S.R, and BASMI in the active AS group. CONCLUSIONS: ERAP2 gene SNPs have been identified as valuable diagnostic biomarkers for AS patients in the Egyptian population being a sensitive and non-invasive approach for AS diagnosis especially rs2910686. Highly statistically significant variations existed among the AS patients and the healthy control group regarding rs2910686 alleles and genotypes.Further research is recommended to explore the potential therapeutic implications of these SNPs.

Clinical, electrophysiological, and ultrasound evaluation for early detection of musculoskeletal hand disorders and nerve entrapment in mobile phone users

ABSTRACT Introduction: Smartphone overuse may lead to musculoskeletal manifestations, such as carpal tunnel syndrome (CTS) and arthritis of hand joints, with an increased median nerve cross-sectional area (CSA). Objective: The aim of this study is the early detection of musculoskeletal hand disorders using ultrasound techniques, and to detect nerve entrapment using clinical evaluation, ultrasound, and electrophysiological studies, in university employees younger than 35 years using mobile phones. Function is assessed using the Michigan Hand Outcomes Questionnaire (MHQ). Materials and methods: Cross-sectional controlled study included 74 smartphone users classified into two groups according to a smartphone addiction scale (SAS), into high and low smart phone users, with 35 non-smartphone users with matched age and gender as a control group. A clinical assessment of nerve entrapment symptoms was performed, and the Michigan Hand Outcomes Questionnaire (MHQ), with a total score from 0 to100, was used to assess hand function. Electrodiagnostic studies of median and ulnar nerves were used to detect early nerve entrapment. Bilateral ultrasound was performed in order to assess the median nerve CSA and involvement of thumb and small hand joints. The data collected were analyzed using the SPSS program version 20. Results: CSAs of median nerves were significantly higher in the dominant hand of high smartphone users than in low and non-smartphone users (p < 0.001). There was a significant positive correlation between CSA and SAS (r = 0.45), visual analogue scale (VAS) (r = 0.61), and duration of smartphone use (r = 0.80), with negative correlation with MHQ (r = -0.63). Significant differences in were found in the electrophysiological studies of median and ulnar nerves. The mean ultrasound score for both hands was higher in the high smartphone users compared to low smartphone users (15.08 ± 4.17 vs. 6.46 ± 1.38, p < .001). Conclusions: There is increased median nerve CSAs among high smartphone users associated with prolongation of both sensory and motor latencies and slow conduction velocities. Caution should be exercised when using mobile phones, in order to minimize the risk of developing hand musculoskeletal disorders.

Extrinsic compression neuropathy of the tibial nerve secondary to accessory soleus muscle in a young teenager.

Compression neuropathy of the tibial nerve or one of its terminal branches (tarsal tunnel syndrome) is relatively uncommon. Accessory musculature on the posteromedial aspect of the ankle is a rare extrinsic cause of compression. Therefore, it should be considered in patients with prolonged manifestations of tibial nerve compression. A detailed history and physical examination, together with proper radiological evaluation, allow for accurate diagnosis. In this case report, a 13-year old female teenager on history, physical examination, and imaging studies was diagnosed as compression neuropathy of the tibial nerve secondary to accessory soleus muscle. After surgical excision of the accessory soleus muscle with no tarsal tunnel release, the patient presented with complete resolution of her manifestations continued free of symptoms for one and half year postoperatively. The accessory soleus muscle is a potential extrinsic cause for tibial nerve compression neuropathy. LEVEL OF CLINICAL EVIDENCE: 5.

miRNA-451a and miRNA-125a Expression Levels in Ankylosing Spondylitis: Impact on Disease Diagnosis, Prognosis, and Outcomes.

BACKGROUND: Early diagnosis of ankylosing spondylitis (AS) is yet not elucidated, with a potential diagnostic glance of microRNAs (miRNAs). AIM: Study the expression profile of miRNA-451a and miRNA-125a in AS patients and their impact on disease activity and prognosis. METHODS: A cross-sectional study included 55 AS patients diagnosed according to modified New York criteria in 1984 with 55 matched healthy controls. History, clinical examination, and disease activity assessment with Bath ankylosing spondylitis disease activity index (BASDAI) were done. Full laboratory and radiological assessment along with expression profile of m iRNA-451a and miRNA-125a were tabulated and analyzed. RESULTS: Higher expression levels of miRNA-125a and lower of miRNA-451a in AS patients compared to controls. Furthermore, miRNA-125a expression was high in active AS patients compared to inactive patients and controls (7.0 ± 3.4 vs. 4.1 ± 2.1 vs. 2.6 ± 0.6, p < 0.001, respectively). miRNA-451a was significantly lower in active AS patients compared to inactive patients and controls (2.2 ± 1.1 vs. 4.1 ± 2.3 vs. 7.1 ± 4.5, respectively). Both miRNAs (miRNA-125a and miRNA-451a) had evident accuracy for AS diagnosis with areas under the curve (AUC) of 0.788 and 0.802, respectively. miRNA-125a had potential impact on AS activity with AUC of 0.777. Plasma levels of both miRNAs were able to distinguish AS patients with structural damage with AUCs 0.775 and 0.692, respectively. CONCLUSIONS: Both miRNA-451a and miRNA-125a were found to be of great value as sensitive noninvasive diagnostic, prognostic, and disease burden biomarker of AS patients in Egypt with suggested further studies for future therapeutic implications.

Prevalence of Subclinical Carotid Atherosclerosis and Vitamin D Deficiency in Egyptian Ankylosing Spondylitis Patients.

OBJECTIVES: This study aims to investigate the relationship between subclinical carotid atherosclerosis and vitamin D deficiency in Egyptian ankylosing spondylitis (AS) patients and their impact on disease activity. PATIENTS AND METHODS: This cross-sectional study included 40 AS patients (36 males, 4 females; mean age 45.9±8.4 years; range 33 to 55 years) diagnosed according to the 1984 modified New York criteria with equal number of healthy controls (26 males, 14 females; mean age 48.4±7.8 years; range 31 to 55 years). Patients' histories were taken and clinical examinations were performed. Disease activity was assessed with Bath AS metrology index (BASMI), Bath AS disease activity index (BASDAI), and Bath AS functional index (BASFI) scores. Laboratory evaluation included lipid profile and 25-hydroxyvitamin D [25(OH)D] was determined by enzyme-linked immunosorbent assay. Bilateral carotid intima-media thickness (CIMT) was measured by a high-resolution ultrasound with linear 7-12 MHz transducer. Average of CIMT of right and left common carotid arteries was used. RESULTS: Statistically significant differences were found between patients and controls in terms of CIMT (p<0.001), 25(OH)D3 (p<0.001) and triglycerides (p=0.02). A significant positive correlation was present between CIMT and disease duration (r=0.74), disease activity scores [BASFI (r=0.60), BASMI (r=0.49), BASDAI (r=0.65)] and lipid profile except for high-density lipoprotein (HDL) that had a negative correlation (r=-0.52). A significant negative correlation was present between 25(OH)D3 levels and CIMT (r=-0.38) and lipid profile except for HDL having a positive correlation (r=0.40). CONCLUSION: Prevalence of subclinical carotid atherosclerosis in AS patients compared to the healthy population was associated with high disease activity and functional limitations. In AS patients, 25(OH)D3 deficiency is a risk factor for accelerated atherosclerosis.