Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

PURPOSE: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). METHODS: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography. RESULTS: Over the 34-year period, 74 individuals from 35 families were diagnosed with AED. Sixty individuals from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal pit volume was significantly reduced as compared to normal (P < 0.0001). Additionally, outer segment length at the fovea was measured in 46 subjects and found to be significantly reduced as compared to normal (P < 0.001). Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. The estimated mean birth prevalence rate was 1 per 22,000 live-born males. CONCLUSIONS: Our data support the viewpoint that AED, iCSNB, and X-linked cone–rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. We argue that the original designation AED should be used for this entity

Extra-articular manifestations and burden of disease in patients with radiographic and non-radiographic axial spondyloarthritis Extra-articular manifestations and burden of disease in patients with radiographic and non-radiographic axial spondyloarthritis

OBJECTIVE: Although the prevalence of peripheral and extra-articular disease in ankylosing spondylitis (AS) has been assessed in many studies, data on non-radiographic axial spondyloarthritis (nr-axSpA) is scanty. The aim of this study was first, to compare radiographic-axSpA/AS (r-axSpA/AS) and nr-axSpA concerning peripheral arthritis and extra-articular manifestations (EAMs), and second, to assess potential differences between patient subgroups with or without EAMs regarding disease burden. METHODS: Data was extracted from our single center axSpA database. Patients having at least one of the EAMs (uveitis and/or inflammatory bowel disease (IBD) and/or psoriasis) were compared to those who did not have EAMs. Patients' clinical data including disease activity, functional and psychological status, physical limitations, quality of life (QoL) and magnetic resonance imaging of sacroiliac joints (SIJ MR) were evaluated. RESULTS: Patients with nr-axSpA (n=193) were younger, had female predominance, better functional and physical status, higher frequency of bone edema in SIJ MR and peripheral arthritis but similar QoL, prevalence of HLA B27 and EAMs compared to r-axSpA/AS (n=352). The prevalence of current or ever uveitis (14.5 vs 15.3%, p=0.791), psoriasis (6.2 vs 5.4%, p=0.689) or IBD (4.1 vs 3.4%, p=0.663) in nr-axSpA and r-axSpA/AS were similar. In both subgroup of patients, EAMs positive and negative patients had similar functional status and QoL, as well as disease activity and laboratory parameters. CONCLUSION: Patients with nr-axSpA and r-axSpA/AS have similar prevalence of EAMs and clinical burden of disease. Having EAMs does not have a major influence on clinical parameters and patient reported outcome measures in nr-axSpA and r-axSpA/AS

INVESTIGATION OF THE PHYSICAL PROPERTIES OF MELTBLOWN NONWOVENS FOR AIR FILTRATION

WOS: 000322802700008Textile filters are industrial textiles used in filtration applications. Among textile materials, especially nonwovens are suitable for filtration applications, because of their complex structures and appropriate thickness. Nonwoven filters are used in various application areas of technical textiles such as medtech, mobiltech, protech, packtech and hometech. Meltblown nonwovens are a unique class of materials, characterized by high surface are, porosity, softness and absorbency due to their microstructure. In this study polypropylene meltblown nonwovens were produced for the purpose of air filtration. Physical properties, namely thickness, basis weight, tensile properties, air permeability, and fibre diameter of were measured and effect of various production parameters on the physical properties of PP meltblown nonwovens were investigated and possibility for using such materials in air filtration was discussed

POSSIBLE POTENTIAL INTERACTIONS BETWEEN OBESITY, QUALITY OF LIFE, PSYCHOLOGICAL STATUS AND CLINICAL PARAMETERS IN PSORIATIC ARTHRITIS

Annual European Congress of Rheumatology (EULAR) -- JUN 12-15, 2019 -- Madrid, SPAINSunar, Ismihan/0000-0002-4435-5677; Yurdakul, Ozan Volkan/0000-0003-4567-8133; alkan, hakan/0000-0001-8461-9131; KILIC, Erkan/0000-0003-4355-4356; Keskin, Yasar/0000-0003-4457-5917; Calis, Mustafa/0000-0002-1184-0772; Ayhan, Fikriye Figen/0000-0001-6906-991X; Duruoz, Mehmet Tuncay/0000-0003-3584-2788WOS: 000472207103578[No abstract available]European League Against Rheumatis