Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet’s disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still’s disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome

Quantification of the link between timed up-and-go test subtasks and contractile muscle properties

Frailty and falls are a major public health problem in older adults. Muscle weakness of the lower and upper extremities are risk factors for any, as well as recurrent falls including injuries and fractures. While the Timed Up-and-Go (TUG) test is often used to identify frail members and fallers, tensiomyography (TMG) can be used as a non-invasive tool to assess the function of skeletal muscles. In a clinical study, we evaluated the correlation between the TMG parameters of the skeletal muscle contraction of 23 elderly participants (22 f, age 86.74 % 7.88) and distance-based TUG test subtask times. TUG tests were recorded with an ultrasonic-based device. The sit-up and walking phases were significantly correlated to the contraction and delay time of the muscle vastus medialis (% = 0.55%0.80, p < 0.01). In addition, the delay time of the muscles vastus medialis (% = 0.45, p = 0.03) and gastrocnemius medialis (% = %0.44, p = 0.04) correlated to the sit-down phase. The maximal radial displacements of the biceps femoris showed significant correlations with the walk-forward times (% = %0.47, p = 0.021) and back (% = %0.43, p = 0.04). The association of TUG subtasks to muscle contractile parameters, therefore, could be utilized as a measure to improve the monitoring of elderly people%s physical ability in general and during rehabilitation after a fall in particular. TUG test subtask measurements may be used as a proxy to monitor muscle properties in rehabilitation after long hospital stays and injuries or for fall prevention

Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network

INTRODUCTIONThis study aims to explore awareness, knowledge, and diagnostic/therapeutic practices in monogenic uveitis (mU) among uveitis experts.METHODSThis is an explorative, cross-sectional survey study. An anonymous, semi-structured, electronic survey was delivered to uveitis experts from the Autoinflammatory Diseases Alliance (AIDA) Network and International Uveitis Study Group (IUSG). We included respondents answering ≥ 50% of the survey.RESULTSSeventy-seven participants rated their knowledge of mU as proficient (3.9%), adequate (15.6%), sufficient (16.9%), or poor (63.6%). When asked about the first mU gene they thought of, 60.4% mentioned NOD2, 3.9% mentioned NLRP3 or MEFV, and 49.4% provided incorrect or no answers. Success rates in clinical scenarios varied from 15.6% to 55.8% and were higher for ophthalmologists working in multidisciplinary teams (p  0.05). The public healthcare system ensured a higher percentage of tests prescribed were obtained by patients compared to private insurances (p < 0.00). In terms of disease-modifying anti-rheumatic drugs (DMARDs), tumor necrosis factor-α inhibitors were the most familiar to uveitis experts. The difficulties with off-label therapy procedures were the primary barrier to DMARDs prescription for patients with mU and correlated inversely with the obtained/prescribed drug ratio for interleukin-1 (p < 0.01) and interleukin-6 (p < 0.01) inhibitors.CONCLUSIONSThis survey identifies proficiency areas, gaps, and opportunities for targeted improvements in patients care. The comprehensive outputs may inform evidence-based guidelines, empowering clinicians with standardized approaches, and drive an AIDA Network-IUSG unified effort to advance scientific knowledge and clinical practice

Impact of HLA-B51 on Uveitis and Retinal Vasculitis: Data from the AIDA International Network Registries on Ocular Inflammatory Disorders

PurposeThe clinical relevance of human leukocyte antigen (HLA) subtypes such as HLA-B51 on Beh &amp; ccedil;et's disease (BD)-related uveitis and non-infectious uveitis (NIU) unrelated to BD remains largely unknown.MethodsData were prospectively collected from the International AIDA Network Registry for BD and for NIU. We assessed differences between groups (NIU unrelated to BD and positive for HLA-B51, BD-related uveitis positive for HLA-B51 and BD-related uveitis negative for HLA-B51) in terms of long-term ocular complications, visual acuity (VA) measured by best corrected visual acuity (BCVA), anatomical pattern, occurrence of retinal vasculitis (RV) and macular edema over time.ResultsRecords of 213 patients (341 eyes) were analyzed. No differences in complications were observed (p = 0.465). With regard to VA, a significant difference was detected in median BCVA (p = 0.046), which was not maintained after Bonferroni correction (p = 0.060). RV was significantly more prevalent in NIU-affected patients who tested positive for HLA-B51, irrespective of the systemic diagnosis of BD (p = 0.025). No differences emerged in the occurrence of macular edema (p = 0.99).ConclusionsPatients with NIU testing positive for HLA-B51 exhibit an increased likelihood of RV throughout disease course, irrespective of a systemic diagnosis of BD. The rate of complications as well as VA are comparable between NIU cases unrelated to BD testing positive for HLA-B51 and uveitis associated with BD. Therefore, it is advisable to perform the HLA-B typing in patients with NIU or retinal vasculitis, even in the absence of typical BD features