Megazyme International Ireland

Informal caregivers play an important part in the healthcare of patients with chronic diseases, including those leading to visual impairment. X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa and causes declines in vision starting in childhood, ultimately progressing to legal blindness in adulthood. Caregivers are expected to play an increasing role in patient care, but real-world impacts of XLRP on caregivers are poorly evaluated. EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study. Cross-sectional surveys were used to gather experiences directly from caregivers across Europe and Israel by both validated and newly developed caregiver-reported outcome surveys. Seventy caregivers of patients with XLRP associated with retinitis pigmentosa GTPase regulator (RPGR) mutations were enrolled, of whom 68 were included in analyses; 87.7% of caregivers were female and mean (standard deviation [SD]) age was 49.4 (11.7) years. They were most commonly either spouses (50.8%) or parents (41.5%) of patients. Caregivers spent a mean (SD) 28.7 (34.5) hours per week caring for patients. Of the 72.3% of caregivers who were employed, 34.8% worked part time; of the 27.7% of caregivers who were unemployed, 33.3% cited caregiving responsibilities as a cause for unemployment; 23.1% and 46.2% of caregivers reported any level of depression and anxiety, respectively, with few additional impacts captured by the surveys. Some caregivers reported employment and mental health impacts in this study. However, despite many hours spent per week caring for patients with XLRP, the surveys did not reflect the expected burden experienced by caregivers, highlighting the need for further research in this field.

Background Epilepsy is a chronic disorder affecting all aspects of individual life. People with epilepsy (PwE) reach seizure control in about 60% of cases. However, social integration issues are frequently overlooked. Unemployment and underemployment are markedly more common in PwE compared with the general population. With this review, we aimed to depict the current state of the employment situation in Europe with a focus on factors that may influence it. Methods We performed a systematic review on epilepsy and employment as part of EpilepsyPOWER Erasmus+ project (2021‐1‐IT02‐KA220‐ADU‐000028349). Our search string was “Epilepsy AND Employment OR Job OR Work.” Using the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA 2020) guidelines, we screened 7272 articles and selected 55 articles from 1958 to 2023. We extrapolated data on employment rate and status, also considering people with specific epileptic syndromes. We finally evaluated factors contributing to employment and unemployment. Results Unemployment rates range from similar to twice or three times the rates of the general population, depending on the countries and years examined. When analyzing factors contributing to employment conditions, most papers highlighted the importance of seizure control and employers' attitudes. Conclusion Developing specific legislation and programs to include PwE in the workplace could help their social integration. Moreover, seizure control seems to be the most relevant factor influencing the possibility of getting and maintaining a good job, demonstrating the importance of providing continuous follow‐up and the best medical care to all PwE.

The importance of patient involvement in the therapeutic development ecosystem is being increasingly recognized, however not all stakeholders are fully aware of the unique perspective that patients can bring to these platforms. In this perspective article that is based on a workshop organized at the Retina International World Congress (RIWC) in Dublin in June 2024, we discuss the interpretation of value from patient’s perspective, challenges in the development of innovative medicines such as cell and gene therapies for Inherited Retinal Degenerations, the resources required to bring a drug to market, and the need to incorporate patient voice throughout the drug development pathway from pre-clinical studies to clinical trial designs, regulatory and health technology assessments decisions. We hope that this article will increase awareness among all relevant stakeholders including patients, clinicians, scientists, developers, regulators, decision makers and industry representatives on the importance of involving patients in the developmental lifecycle of novel therapies so that therapies are developed that make a meaningful improvement in patients’ lives.

The aim of this study was to determine the effects of a personalized smartphone application on subjective sleep quality, wellbeing and stress in participants with subclinical sleep problems. Healthy participants with subclinical threshold sleep issues that did not meet diagnostic criteria for insomnia were randomly assigned to use the app or be on a waiting list for app usage (control group). Subjective data on sleep quality (sleep quality component of Sleep Questionnaire B [primary endpoint] and the Pittsburgh Sleep Quality Index), feeling refreshed after the sleep component of Sleep Questionnaire B, Short Form‐12 physical and mental components, and stress (Perceived Stress Scale) were compared between the app and control groups at baseline and after 6 and 12 weeks. Depending on their usage, app users were defined as “frequent”, “occasional” or “rare/never” users. Two‐hundred and six and 205 app users and 286 and 285 control participants completed the 6‐ and 12‐week assessments, respectively. Sleep Questionnaire B scores improved in frequent (effect size 0.595; F = 13.7) and occasional users (0.653; F = 9.4) after 6 weeks; effects persisted at 12 weeks, and were similar for the Pittsburgh Sleep Quality Index. Feeling refreshed after the sleep component of Sleep Questionnaire B improved over time in all groups, with no significant difference between app users and controls. There were no changes in Short Form‐12 physical component, Short Form‐12 mental component, and Perceived Stress Scale scores. A personalized app positively affected subjective sleep quality in a population of users with subclinical threshold sleep issues, and could serve as a low‐burden digital intervention to potentially prevent the exacerbation of sleep pathologies.

Background/aims 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. Methods 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. Results 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. Conclusion 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.

Importance Age-related macular degeneration (AMD) is a highly prevalent and debilitating retinal condition that affects more than 200 million people globally, with the severe late-stage forms—neovascular AMD (nAMD) and geographic atrophy (GA)—affecting more than 11 million people globally. However, much is unknown about the economic burden of the disease. Objective To estimate the economic burden associated with late-stage AMD in Bulgaria, Germany, and the US at the societal level. Design, Setting, and Participants This study used the prevalence approach cost-of-illness economic modeling to estimate costs attributable to late-stage AMD. Data on health care resource utilization, well-being, and productivity were obtained via primary data collection. Additional data required for the model were sourced from available published literature. Data were collected from January 2021 to March 2022, and analyzed from April to July 2022. Participants older than 50 years residing in Bulgaria, Germany, and the US who were diagnosed with late-stage AMD (nAMD or any form of GA) in 1 or both eyes and caregivers who care for people diagnosed with late-stage AMD were recruited through ophthalmological clinics in Bulgaria and Germany and via online newsletters and social media in the US. Main Outcomes and Measures The main outcomes were direct medical costs (disease-related health care expenditures), indirect medical costs (care support and assistive technology), well-being cost (loss of well-being), and productivity cost (loss in productivity due to the diseases for both patient and caregivers). Results Of the 128 individuals with late-stage AMD in this study, 80 (62%) were female, and 120 (94%) were aged 60 years or older. Of the 61 caregivers, 43 (70%) were female and 55 (91%) were aged 45 years or older. Estimated per-annum total costs attributable to late-stage AMD were €449.5 million ($512.5 million) in Bulgaria, €7.6 billion ($8.6 billion) in Germany, and €43.2 billion ($49.4 billion) in the US. Across all countries, 10% to 13% of the total cost incurred was attributed to direct medical costs. In Germany and Bulgaria, the biggest contributor to the total economic burden was reduced well-being (67% and 76%, respectively), whereas in the US, loss of productivity (42%) was the biggest contributor. Conclusions and Relevance The findings of this study indicate a substantial burden of late-stage AMD on patients and caregivers in the US, Germany, and Bulgaria. Across the 3 countries, reduced well-being and loss of productivity were relatively large contributors to the total economic burden. Implementing measures to reduce AMD incidence, delay disease progression, and alleviate humanistic burden may help reduce the economic burden of late-stage AMD.

Purpose To map the existing genomic services available for patients with IRDs across Europe. Methods A survey was conducted to 24 ophthalmic and/or genetic specialists across 19 European countries. The survey was conducted in an interview style via zoom for participants from 17 out of 19 countries. Interviewees were clinical/medical/ophthalmic geneticists, ophthalmologists/retina specialists and internal medicine specialists. The survey focused on referral pathways, genetic counseling, insurance coverage, awareness of genetic testing and counseling for IRDs among practitioners and patients, and preferred testing methodologies. Results Genomic services (testing and counselling) for IRDs vary among countries from an awareness, availability and insurance coverage perspective. Affordability could be a barrier for patients in countries without any payment scheme (eg, Poland) and in countries where only a targeted population is covered (eg, Bulgaria). Genetic counseling via qualified genetic counsellors did not exist in many countries. The level of awareness regarding the benefits of genetic testing in IRDs among healthcare professionals (HCPs) and patients was perceived as low in some countries. Panel-based next-generation sequencing (NGS) was the first test of choice for genetic testing in 68% of the studied countries. Conclusion There is some disparity in the approach to genetic testing for IRDs across Europe. Greater awareness of genetic testing services is required among the eye care professional community. A revised approach to the provision of genetic testing services such as centralized free genetic testing with associated interpretation and genetic counselling may help in ensuring equitable access and reimbursement, which will empower patients through improved access to clinical trials, expedite innovation, improve access to therapy and the delivery of care.

The increasing effects of climate change have intensified floods globally, especially in Africa, where millions of people live in poverty and are highly vulnerable to flooding. Climate change disproportionately affects the vulnerable, who are least equipped to handle its consequences, by exacerbating their situation. One such consequence is the potential for increased human immunodeficiency virus (HIV) transmission. Africa has been disproportionately affected by the HIV epidemic. It now faces the additional challenge of a changing climate and floods, which are capable of increasing HIV transmission in Africa through several pathways. They can force population displacement and migration, leading to the expansion of sexual networks among people living with HIV (PLWHIV). They may also create conditions conducive to the spread of other infections. Floods can cause food insecurity, which can result in various sexual behaviors that expose people to HIV infection. As global warming is linked to a decrease in African food production capacity, the effect of food insecurity on HIV may be prominent in countries where transactional sexual means is a major route of HIV transmission. Floods can also hinder the provision of HIV services, such as pre‐ and postexposure prophylaxis and antiretroviral therapy distribution, which may worsen the health outcomes of PLWHIV and promote HIV transmission, particularly in rural and remote communities. It is crucial to develop a climate‐resilient framework, including education, sustained access to HIV services, and promotion of social welfare for HIV prevention and treatment, to address the complex relationship between HIV, floods, and climate change.

Introduction Canine osteoarthritis (OA) causes pain and mobility impairment. This can reduce dog quality of life (QoL), owner QoL and owners’ satisfaction with, and adherence to, treatments. No existing canine OA-specific instrument assesses all three impacts. This study aimed to develop and psychometrically evaluate an owner-completed canine OA-specific measure of dog QoL, owner QoL and owner treatment satisfaction; the “Canine OA Quality of Life and Treatment Satisfaction Questionnaire” (CaOA-QoL-TS). Methods The CaOA-QoL-TS was developed using a conceptual model derived from a meta-synthesis of published literature followed by cognitive interviews with ten owners of dogs with OA, to evaluate content validity. Results Based on interview findings, ten items were reworded, four removed, and two added; resulting in 26 items that all owners understood and considered relevant. The recall period and response options were well understood and appropriate to almost all owners. To evaluate its psychometric properties, the CaOA-QoL-TS (draft 26-item version) was administered, across six timepoints in a phase 4 field study, to owners of OA treated dogs, recruited from veterinary practices (N = 93). Inter-item correlations suggested items clustered into three distinct domains: Dog QoL, Owner QoL and Treatment Satisfaction, as hypothesized. Confirmatory factor analysis supported deletion of two items and calculation of the three domain scores, with acceptable model fit. The resulting 24-item CaOA-QoL-TS instrument demonstrated strong internal consistency and good to excellent test–retest reliability. Convergent validity was supported by moderate to strong correlations with concurrent measures. Known groups validity was supported by statistically significant differences between groups categorized by owner global impression of QoL. Ability to detect change was demonstrated through statistically significant improvements over time in Owner and Dog QoL, with larger within-group effect sizes reported for the mean of ‘improved’ dogs compared to the mean of ‘stable’ dogs. Only a small sample of dogs worsened throughout the study. Anchor-based analyses supported-0.9 and-1.0-point within-group responder definitions for dog and owner QoL domains, respectively. Discussion Findings support the content validity of the CaOA-QoL-TS in canine OA. The 24-item CaOA-QoL-TS is a reliable and valid instrument to measure owner and canine QoL and TS and is sensitive to improvements following OA treatment.

A variety of terms, such as “antiepileptic,” “anticonvulsant,” and “antiseizure” have been historically applied to medications for the treatment of seizure disorders. Terminology is important because using terms that do not accurately reflect the action of specific treatments may result in a misunderstanding of their effects and inappropriate use. The present International League Against Epilepsy (ILAE) position paper used a Delphi approach to develop recommendations on English‐language terminology applicable to pharmacological agents currently approved for treating seizure disorders. There was consensus that these medications should be collectively named “antiseizure medications”. This term accurately reflects their primarily symptomatic effect against seizures and reduces the possibility of health care practitioners, patients, or caregivers having undue expectations or an incorrect understanding of the real action of these medications. The term “antiseizure” to describe these agents does not exclude the possibility of beneficial effects on the course of the disease and comorbidities that result from the downstream effects of seizures, whenever these beneficial effects can be explained solely by the suppression of seizure activity. It is acknowledged that other treatments, mostly under development, can exert direct favorable actions on the underlying disease or its progression, by having “antiepileptogenic” or “disease‐modifying” effects. A more‐refined terminology to describe precisely these actions needs to be developed.

With a growing aging population, the prevalence of age-related eye disease and associated eye care is expected to increase. The anticipated growth in demand, coupled with recent medical advances that have transformed eye care for people living with retinal diseases, particularly neovascular age-related macular degeneration (nAMD) and diabetic eye disease, has presented an opportunity for health systems to proactively manage the expected burden of these diseases. To do so, we must take collective action to address existing and anticipated capacity limitations by designing and implementing sustainable strategies that enable health systems to provide an optimal standard of care. Sufficient capacity will enable us to streamline and personalize the patient experience, reduce treatment burden, enable more equitable access to care and ensure optimal health outcomes. Through a multi-modal approach that gathered unbiased perspectives from clinical experts and patient advocates from eight high-income countries, substantiated perspectives with evidence from the published literature and validated findings with the broader eye care community, we have exposed capacity challenges that are motivating the community to take action and advocate for change. Herein, we propose a collective call-to-action for the future management of retinal diseases and potential strategies to achieve better health outcomes for individuals at-risk of, or living with, retinal disease.

We propose a new method to estimate the unobservable natural real rate of interest in the United States (US). We begin by describing the natural rate in the New Keynesian model and then theoretically linking its evolution to both demand and supply-side shocks hitting the US economy. Our results indicate that the technology shock dominated the shift in the natural real rate of interest during the sample period 1947–2017. In addition, we also examine whether the Taylor rule should be augmented for changes in the estimated natural rate. Our maximum likelihood estimation shows that the inclusion of the natural interest rate shift in the Taylor rule leads to significant improvement of the interest rate modelling.

The release of the 2021 Intergovernmental Panel on Climate Change (IPCC) report makes clear that human activities have resulted in significant alterations in global climate. There is no doubt that climate change is upon us; chronic global warming has been punctuated by more frequent extreme weather events. Humanity will have to mitigate climate change and adapt to these changing conditions or face dire consequences. One under-appreciated aspect of this global crisis is its impact on healthcare, particularly people with epilepsy and temperature-sensitive seizures. As members of the inaugural International League Against Epilepsy (ILAE) Climate Change Commission, we recount the personal motivations that have led each team member to decide to take action, in the hope that our journeys as ordinary clinicians and scientists will help persuade others that they too can act to foster change within their spheres of influence.

This meta-review aimed to appraise and synthesise findings from existing systematic reviews that measured the impact of compression therapy on venous leg ulcers healing. We searched five databases to identify potential papers; three authors extracted data, and a fourth author adjudicated the findings. The AMSTAR-2 tool was used for quality appraisal and the certainty of the evidence was appraised using GRADEpro. Data analysis was undertaken using RevMan. We identified 12 systematic reviews published between 1997 and 2021. AMSTAR-2 assessment identified three as high quality, five as moderate quality, and four as low quality. Seven comparisons were reported, with a meta-analysis undertaken for five of these comparisons: compression vs no compression (risk ratio [RR]: 1.55; 95% confidence interval [CI] 1.34-1.78; P < .00001; moderate-certainty evidence); elastic compression vs inelastic compression (RR: 1.02; 95% CI: 0.96-1.08; P < .61 moderate-certainty evidence); four layer vs <four-layer bandage systems (RR: 1.07; 95% CI: 0.82-1.40; P < .63; moderate-certainty evidence); comparison between different four-layer bandage systems (RR: 1.08; 95% CI: 0.93-1.25; P = .34; moderate-certainty evidence); compression bandage vs compression stocking (RR 0.95; 95% CI 0.87-1.03; P = .18; moderate-certainty evidence). The main conclusion from this review is that there is a statistically significant difference in healing rates when compression is used compared with no compression, with moderate-certainty evidence. Otherwise, there is no statistically different difference in healing rates using elastic compression vs inelastic compression, four layer vs <four-layer bandage systems, different four-layer bandage systems, or compression bandages vs compression stockings.