Wilson disease in the USA: epidemiology and real-world patient characteristics based on a retrospective observational health claims study

Objectives
To describe the epidemiology, patient characteristics and comorbidities in patients with Wilson disease (WD) in the USA.

Design
Retrospective, population-based study.

Setting
The study used the US Komodo claims database containing records regarding medical claims for over 120 million individuals.

Participants
Patients with WD were identified via ICD-10 (10th revision of the International Classification of Diseases) code during the study period 2016–2019 and no age restriction was applied. A further stratification by disease subtype (‘hepatic’, ‘neurologic’ and ‘psychiatric’) was performed.

Main outcome measures
WD prevalence was reported by age, sex and US census regions/divisions. Adjusted prevalence was calculated using age-specific prevalence standardised to the USA (2010 US census) and to the world (WHO 2000–2025) to enable comparisons across countries, using direct standardisation of prevalence estimates by age group.

Results
Overall, 2115 patients with WD were identified during the study period. Among them, 56.8% had hepatic symptoms, 57.0% neurologic symptoms and 47.4% psychiatric symptoms. The most frequent manifestations in hepatic patients were liver signs and symptoms (90.8%), in neurologic patients cognitive defects (50.7%) and in psychiatric patients mood disorders (86.4%). The mean age in the overall cohort was 39.9 years. Prevalence estimation was based on 1481 patients with WD between 2017 and 2019. The 2017–2019 crude period prevalence was 21.2 patients per million (95% CI: 20.1 to 22.3), with similar prevalence observed for both sexes.

Conclusions
This study provides important real-world data on the diagnosed prevalence of WD in the USA and revealed the comorbidities associated with various disease subtypes, thereby providing a comprehensive basis for guiding physicians and policy makers in the management of this chronic disease.

Leggi
Dicembre 2024

Multicentre study conducted across centres in the USA, Europe and Australia to assess the safety and effectiveness of a bilateral hypoglossal nerve stimulation system for the treatment of obstructive sleep apnoea in adults: a protocol for a pivotal, multicentre, open-label, single-arm study

Introduction
Obstructive sleep apnoea (OSA) is characterised by blood oxygen desaturations and sleep disruptions manifesting undesirable consequences. Existing treatments including oral appliances, positive airway pressure (PAP) therapy and surgically altering the anatomy of the pharynx have drawbacks including poor long-term adherence or often involving irreversible, invasive procedures. Bilateral hypoglossal nerve stimulation (HNSBL) is a new treatment for managing OSA, and this study is intended to determine whether an HNSBL system is a safe and effective treatment option for adults with OSA.

Methods and analysis
This is a pivotal, multicentre, prospective, single-arm study of HNSBL in PAP-intolerant adults with moderate to severe OSA. The device is activated 2 months after implantation with stimulation settings optimised before the final 12-month sleep study. At 12 months, the two coprimary effectiveness endpoints are the percentage of responders based on reduction in the Apnoea-Hypoponea Index, with hypopnoeas associated with 4% oxyhaemoglobin desaturation, and the Oxygen Desaturation Index, using drops in oxygen concentration >4% from baseline (ODI4). Secondary effectiveness endpoints include mean changes in quality-of-life assessments (daytime sleepiness and its effect on activities of daily living, OSA-specific quality of life, daytime sleepiness), levels of intermittent hypoxia, change in hypoxaemic burden and OSA severity.

Ethics and dissemination
The Food and Drug Administration, Advarra Institutional Review Board (IRB), University of Tennessee HSC IRB, University of Pennsylvania IRB, Weill Cornell Medicine IRB, Medical College of Wisconsin/Froedert Hospital, Human Research Protections Programme Vanderbilt University, St. Vincent’s Hospital Melbourne Human Research Ethics Committee, Ethisch Comite Universitair Ziekenhuis Antwerpen and Technische Universitat Munchen reviewed and approved this protocol. Study results will be disseminated through journal publications, updates to ClinicalTrials.gov and the Nyxoah website, and presentations at meetings and conferences.

Trial registration number
NCT03868618.

Leggi
Dicembre 2024

Determining the intention of receiving the influenza vaccine: a cross-sectional survey among international and domestic college students in the USA

Objective
Vaccination is the most effective strategy for preventing infectious diseases, yet it is underused in young adults. College students are important targets for the influenza vaccine given this population’s low vaccination rates; however, limited research has focused on international college students’ vaccination status. This study examined the relationships between the theory of planned behaviour (TPB; attitudes, perceived behavioural control (PBC) and subjective norms) and students’ intention of receiving an influenza vaccine.

Design, setting and participants
A cross-sectional study was conducted with a convenience sample of 222 domestic students recruited via Amazon Mechanical Turk and 197 international students recruited through the Registrar’s Office at a Midwest university.

Results
International students had higher levels of PBC, intention and attitudes towards receiving an influenza vaccine compared with domestic students. Being Hispanic (β=–5.33; 95% CI –9.84 to –0.81, p=0.021), up-to-date vaccination status (β=–1.60; 95% CI –2.99 to –0.17, p=0.028) and identifying as smokers (β=–2.94; 95% CI –5.72 to –0.15, p=0.039) significantly lowered college students’ intention. Attitudes (international: β=0.14; 95% CI 0.04 to 0.23, p=0.003; domestic: β=0.14; 95% CI 0.07 to 0.22, p

Leggi
Dicembre 2024

Incidence and prevalence of antiphospholipid syndrome (APS) in the USA (2016-2019): a retrospective database study

Objective
Few epidemiological studies are reported in the published literature on the incidence or prevalence of antiphospholipid syndrome (APS), and available results are heterogeneous. This study aimed to estimate the incidence and prevalence of APS in the USA, overall and by APS subtype.

Design
A retrospective analysis of APS disease incidence and a cross-sectional analysis of disease prevalence.

Setting
Merative MarketScan Commercial Claims and Encounters Database, and the Medicare Supplemental and Coordination of Benefits Database.

Participants
All individuals with claims for at least two antiphospholipid antibody tests undertaken at least 12 weeks apart and a diagnosis claim for APS as a primary or secondary diagnosis on or after the second antibody test, during the period 1 January 2016 to 31 December 2019.

Main outcome measures
Annual incidence and prevalence of APS and APS subtypes.

Results
In total, 1708 cases of APS were identified during the study period (2016–2019), of which 83% were women. The overall annual standardised incidence rate of APS per 100 000 person-years increased slightly over the study period, from 2.31 in 2016 to 2.71 in 2019. In 2019, the estimated annual prevalence of APS per 100 000 persons was 10.42 per 100 000 persons (95% CI 9.96–10.90). Based on this and US census data, we have estimated that 34 000 persons in the USA were affected by APS in 2019.

Conclusions
These data add to the estimates of prevalence and incidence of APS in the literature, all of which have different strengths and limitations of the different data sources and case ascertainment methods.

Leggi
Dicembre 2024

Individual- and community-level risk factors for maternal morbidity and mortality among Native American women in the USA: a systematic review

Introduction and objective
Maternal morbidity and mortality (MMM) is a public health concern in the USA, with Native American women experiencing higher rates than non-Hispanic White women. Research on risk factors for MMM among Native American women is limited. This systematic review comprehensively synthesizes and critically appraises the literature on risk factors for MMM experienced by Native American women.

Methods and analysis
A systematic search was conducted on 10 October 2022 in PubMed, Embase, CINAHL and Scopus for articles published since 2012. Selection criteria included observational studies set in the USA, involving Native American women in the perinatal period, and examining the relationship between risk factors and MMM outcomes. Three reviewers screened and extracted data from the included studies, with risk of bias assessed using the National Institutes of Health Quality Assessment Tools. Data were analysed descriptively.

Results
15 studies were included. All studies used administrative databases, with settings, including nationwide (seven studies), statewide (four studies) and Indian reservations (four studies). The majority of studies focused on hypertensive disorders of pregnancy (eight studies) and severe maternal morbidity (SMM) (four studies). 26 risk factors were identified. Key risk factors included Native American race (six studies), rural maternal residency (four studies), overweight/obese body mass index (two studies), maternal age (two studies), nulliparity (two studies) and pre-existing medical conditions (one study).

Conclusion
This review identified risk factors associated with MMM among Native American women, including rural residency, overweight or obesity and advanced maternal age. However, the findings also reveal a scarcity of research specific to this population, limiting the ability to fully understand these risk factors and develop effective interventions. These results emphasise the need for further research and culturally relevant studies to inform public health and address disparities for Native American women, particularly those in rural areas.

PROSPERO registration number
CRD42022363405.

Leggi
Novembre 2024

Impact of social determinants of health on rehabilitation service use and outcomes in adults in the USA: a scoping review protocol

Introduction
Many Americans fail to receive equitable access to or positive outcomes from rehabilitation services. These disparities result from broader societal inequities that disproportionately affect certain groups of people due to non-medical factors such as race, gender, education and living status. This scoping review aims to describe research papers that examine social determinants of health (SDOH) that underlie disparities in access to, use of, or outcomes related to rehabilitation (in occupational therapy, physical therapy, recreational therapy, rehabilitation medicine/physiatry and speech-language pathology) among adults in the USA. Identifying SDOH-related factors that drive inequities in rehabilitation will inform the development of potential solutions to improve access, professional education and patient outcomes.

Methods and analysis
The Joanna Briggs Institute methodological framework will be used to conduct this scoping review. To meet the inclusion criteria, articles will need to be published in English since 2013, be classified as full-length original research, include at least 100 sampled adults, be conducted in the USA or its territories, and investigate SDOH-related disparities in rehabilitation. Search terms will include SDOH, rehabilitation and disparities. Five databases (Embase, PubMed, Scopus, Sociological Abstracts and Web of Science: Core Collection) will be searched for articles published in English between 2013 and 2023. Records from these databases as well as reference lists of included papers and review papers will be screened for eligibility. Two people will independently review each record during title and abstract screening and full-text screening, and three people will independently extract data. Screening and data extraction processes will be piloted. The results will be presented in tables, graphs and narrative summaries.

Ethics and dissemination
Findings will be disseminated through scientific conferences, professional networks, stakeholder meetings, invited workshops and webinars, email listservs of professional associations, academic social media and in a peer-reviewed journal. Ethics approval is not required as the review will only include previously published data.

Leggi
Novembre 2024