Andrew Lotery

Jan 7, 2025 | nature.com | Francesco Parmeggiani |Dominique Brémond-Gignac |Avril Daly |Tom Denee |Marjolein Lahaye |Andrew Lotery | +9 more

X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5–15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of this disease on patients are poorly investigated, especially with respect to burdens faced by patients with varying disease severities. EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study. A retrospective chart review was conducted to collect clinical/demographic data, including XLRP clinical stage (mild, moderate or severe). Cross-sectional surveys were used to gather experiences directly from patients by validated and modified patient-reported outcomes. 176 patients with XLRP caused by retinitis pigmentosa GTPase regulator (RPGR) gene mutation were enrolled, of whom 169 were included in analyses. 81% of patients were male, mean (SD) age was 39.3 (17.61) years, and 20 adolescents were included. Mean age (SD) at genetic confirmation was 33.4 years (17.98), and the mean duration (SD) from initial symptoms to genetic diagnosis was 16.4 (15.66) years. Compared with patients with mild disease, patients with severe XLRP are more likely to experience difficulties with functioning in low luminance, depression, unemployment, productivity issues, mobility and daily activities. This is the first real-world study to collect data directly from patients on the burden of XLRP and to correlate that burden with disease stage. As a result, several areas of significant burden, especially for patients with severe disease, have been identified that should provide focus for future public policies and therapeutic prospects.

Dec 10, 2023 | theprint.in | Andrew Lotery

Untreated, it can progress over many years causing more damage to multiple organ systems. It is a tragedy if missed. It can affect virtually every tissue in the eye. This includes the cornea, the iris, the orbit, the eyelids, the retina, the optic nerve and the sclera. It usually presents as an inflammation, but sometimes the presentation is more subtle. If syphilis is missed, other important treatable infections may also be missed. For example, HIV infection is also common in patients with syphilis.

Dec 9, 2023 | flipboard.com | Andrew Lotery

Sleep20 hours agoCannabis Users Less Reliant On Sleep Aids And Drugs, Analysis SuggestsForbes - Benjamin Adams • 20hDoes smoking or vaping cannabis help to promote better sleep, as previous research has suggested?

Dec 9, 2023 | theprint.in | Andrew Lotery

Untreated, it can progress over many years causing more damage to multiple organ systems. It is a tragedy if missed. It can affect virtually every tissue in the eye. This includes the cornea, the iris, the orbit, the eyelids, the retina, the optic nerve and the sclera. It usually presents as an inflammation, but sometimes the presentation is more subtle. If syphilis is missed, other important treatable infections may also be missed. For example, HIV infection is also common in patients with syphilis.

Dec 6, 2023 | metro.co.uk | Andrew Lotery

A cluster of cases of ocular syphilis has been reported in Michigan, US. The five women infected all contracted the disease from the same sexual partner. While ocular syphilis is not that common overall, accounting for 1% of all syphilis cases, this probably represents an underestimate of its prevalence. Why is this important? Ocular syphilis has been described as the great imitator. It can manifest in a multitude of ways and as such the diagnosis can be missed.