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1.
Chest ; 165(5): 1228-1238, 2024 May.
Article in English | MEDLINE | ID: mdl-38215934

ABSTRACT

BACKGROUND: Positive airway pressure (PAP) therapy is first-line therapy for OSA, but consistent use is required for it to be effective. Previous studies have used Medicare fee-for-service claims data (eg, device, equipment charges) as a proxy for PAP adherence to assess its effects. However, this approach has not been validated in a US commercially insured population, where coverage rules are not standardized. RESEARCH QUESTION: In a commercially insured population in the United States, how well do claims-based algorithms for defining PAP adherence correspond with objective PAP device usage? STUDY DESIGN AND METHODS: Deidentified administrative claims data of commercially insured patients (aged 18-64 years) with OSA were linked to objective PAP therapy usage data from cloud-connected devices. Adherence was defined based on device use (using an extension of Centers for Medicare & Medicaid Services 90-day compliance criteria) and from claims-based algorithms to compare usage metrics and identify potential misclassifications. RESULTS: The final sample included 213,341 patients. Based on device usage, 48% were adherent in the first year. Based on claims, between 10% and 84% of patients were identified as adherent (accuracy, sensitivity, and specificity ranges: 53%-68%, 12%-95%, and 26%-92%, respectively). Relative to patients who were claims-adherent, patients who were device-adherent had consistently higher usage across all metrics (mean, 339.9 vs 260.0-290.0 days of use; 6.6 vs 5.1-5.6 d/wk; 6.4 vs 4.6-5.2 h/d). Consistent PAP users were frequently identified by claims-based algorithms as nonadherent, whereas many inconsistent users were classified by claims-based algorithms as adherent. INTERPRETATION: In aggregate US commercial data with nonstandardized PAP coverage rules, concordance between existing claims-based definitions and objective PAP use was low. Caution is warranted when applying existing claims-based algorithms to commercial populations.


Subject(s)
Algorithms , Patient Compliance , Sleep Apnea, Obstructive , Humans , Sleep Apnea, Obstructive/therapy , Male , Female , United States , Adult , Middle Aged , Adolescent , Patient Compliance/statistics & numerical data , Young Adult , Continuous Positive Airway Pressure/economics , Continuous Positive Airway Pressure/methods , Insurance Claim Review , Insurance, Health/statistics & numerical data
2.
J Sleep Res ; : e14099, 2023 Nov 14.
Article in English | MEDLINE | ID: mdl-37964440

ABSTRACT

Obstructive sleep apnea (OSA) is a highly prevalent yet underdiagnosed disease that creates a large economic burden on the United States healthcare system. In this retrospective study, we tested the hypothesis that adherence to positive airway pressure (PAP) therapy, the 'gold standard' treatment for OSA, is associated with reduced healthcare resource utilisation and costs. We linked de-identified payer-sourced medical claims and objective PAP usage data for patients newly diagnosed with OSA. Inverse probability of treatment weighting was used to create balanced groups of patients who were either adherent, intermediately adherent, or non-adherent to PAP therapy. From a sample of 179,542 patients (average age 52.5 years, 61% male), 37% were adherent, 40% intermediate, and 23% non-adherent. During the first year, PAP adherence was significantly associated with fewer emergency room visits (mean [SD] adherent: 0.39 [1.20] versus intermediate: 0.47 [1.30], p < 0.001; versus non-adherent: 0.54 [1.44], p < 0.001), all-cause hospitalisations (mean [SD] adherent: 0.09 [0.43] versus intermediate: 0.12 [0.51], p < 0.001; versus non-adherent: 0.13 [0.55], p < 0.001), and lower total costs (mean [SD] adherent $5874 [8045] versus intermediate $6523 [9759], p < 0.001; versus non-adherent $6355 [10,517], p < 0.001). Results were similar in the second year of PAP use. These results provide additional evidence from a large, diverse sample to support the diagnosis and treatment of OSA and encourage long-term adherence to PAP therapy.

3.
J Am Heart Assoc ; 12(14): e028733, 2023 07 18.
Article in English | MEDLINE | ID: mdl-37421282

ABSTRACT

Background Obstructive sleep apnea (OSA) is common in heart failure with preserved ejection fraction (HFpEF). However, current evidence is equivocal regarding the potential benefits of treating OSA with positive airway pressure (PAP) therapy in HFpEF. This study assessed the association between adherence to PAP therapy and health care resource use in patients with OSA and HFpEF. Methods and Results Administrative insurance claims data linked with objective PAP therapy usage data from patients with OSA and HFpEF were used to determine associations between PAP adherence and a composite outcome including hospitalizations and emergency room visits. One-year PAP adherence was based on an adapted US Medicare definition. Propensity score methods were used to create groups with similar characteristics across PAP adherence levels. The study cohort included 4237 patients (54.0% female, mean age 64.1 years); 40% were considered adherent to PAP therapy (30% intermediate adherent, 30% nonadherent). In the matched cohort, PAP-adherent patients had fewer health care resource use visits than nonadherent patients, a 57% decrease in hospitalizations, and a 36% decrease in emergency room visits versus the year before PAP initiation. Total health care costs were lower in adherent patients than nonadherent patients ($12 732 versus $15 610, P<0.001). Outcomes for intermediately adherent patients were most similar to those for nonadherent patients. Conclusions Treating OSA with PAP therapy in patients with HFpEF was associated with a reduction in health care resource use. These data highlight the importance of managing concomitant OSA in patients with HFpEF, and the need for strategies to enhance PAP adherence in this population.


Subject(s)
Heart Failure , Sleep Apnea, Obstructive , Humans , Female , Aged , United States/epidemiology , Middle Aged , Male , Heart Failure/therapy , Stroke Volume , Retrospective Studies , Medicare , Continuous Positive Airway Pressure , Health Care Costs , Patient Compliance
4.
J Am Heart Assoc ; 12(10): e028732, 2023 05 16.
Article in English | MEDLINE | ID: mdl-37183861

ABSTRACT

Background Obstructive sleep apnea (OSA) is a common comorbidity in patients with heart failure, although current evidence is equivocal regarding the potential benefits of treating OSA with positive airway pressure (PAP) therapy in patients with heart failure. This study assessed the impact of adherence to PAP therapy on health care resource utilization in patients with OSA and heart failure with reduced ejection fraction. Methods and Results Administrative insurance claims data linked with objective PAP therapy use data from patients with OSA and heart failure with reduced ejection fraction were used to determine associations between PAP adherence and a composite outcome of hospitalizations and emergency room visits. One-year PAP adherence was based on an adapted US Medicare definition. Propensity score methods were used to create groups with similar characteristics across PAP adherence levels. The study cohort included 3182 patients (69.9% male, mean age 59.7 years); 39% were considered adherent to PAP therapy (29% intermediate adherent, 31% nonadherent). One year after PAP initiation, adherent patients had fewer composite visits than matched nonadherent patients, driven by a 24% reduction in emergency room visits for adherent patients. Composite visit costs were lower in adherent versus nonadherent patients ($3500 versus $5879, P=0.031), although total health care costs were not statistically different ($13 028 versus $14 729, P=0.889). Conclusions PAP therapy adherence in patients with OSA with heart failure with reduced ejection fraction was associated with a reduction in health care resource utilization. This suggests that greater emphasis should be placed on diagnosing and effectively treating OSA with PAP in patients with heart failure with reduced ejection fraction.


Subject(s)
Heart Failure , Sleep Apnea, Obstructive , Humans , Male , Aged , United States/epidemiology , Middle Aged , Female , Stroke Volume , Medicare , Patient Acceptance of Health Care , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/epidemiology , Sleep Apnea, Obstructive/therapy , Patient Compliance , Continuous Positive Airway Pressure/methods , Heart Failure/therapy , Heart Failure/complications
5.
J Clin Sleep Med ; 19(3): 563-571, 2023 03 01.
Article in English | MEDLINE | ID: mdl-36546368

ABSTRACT

STUDY OBJECTIVES: There is a complex interplay between obstructive sleep apnea (OSA) and type 2 diabetes. There are minimal data regarding the effects of treating OSA with positive airway pressure (PAP) therapy on outcomes and health care resource utilization (HCRU) in patients with OSA and type 2 diabetes. We investigated the impact of PAP adherence on HCRU and costs in this population. METHODS: A retrospective analysis was conducted with a cohort of OSA patient from a US administrative claims dataset linked to objective device data (AirView, ResMed Corp., San Diego, California). Propensity score matching was used to control for potential imbalance in baseline covariates between PAP-adherent and -nonadherent patients. Newly diagnosed patients with OSA aged ≥ 18 years with type 2 diabetes were included. PAP adherence was defined as meeting Centers for Medicare and Medicaid Services compliance criteria in all 8 90-day periods over 2 years. HCRU was based on the number of all-cause doctor visits, emergency room visits, inpatient hospitalizations, and PAP equipment and supplies. RESULTS: In years 1 and 2 of PAP therapy, HCRU was significantly lower in adherent vs nonadherent patients (number/patient for emergency room visits 0.68 ± 1.47 vs 0.99 ± 1.91 [year 1], 0.69 ± 1.43 vs 0.95 ± 1.89 [year 2]; for hospitalizations 0.16 ± 0.58 vs 0.22 ± 0.62 [year 1], 0.15 ± 0.51 vs 0.21 ± 0.74 [year 2]; all P < .001). Changes in estimated total 24-month payments were higher for nonadherent patients ($2,282, 95% confidence interval: $1,368, $3,205). CONCLUSIONS: Consistent use of PAP therapy over 2 years was associated with decreased HCRU in patients with OSA and type 2 diabetes, strongly suggesting a role for screening and treating OSA in type 2 diabetes. CITATION: Sterling KL, Cistulli PA, Linde-Zwirble W, et al. Association between positive airway pressure therapy adherence and health care resource utilization in patients with obstructive sleep apnea and type 2 diabetes in the United States. J Clin Sleep Med. 2023;19(3):563-571.


Subject(s)
Diabetes Mellitus, Type 2 , Sleep Apnea, Obstructive , Humans , Aged , United States , Retrospective Studies , Continuous Positive Airway Pressure , Medicare , Sleep Apnea, Obstructive/therapy , Patient Compliance , Inpatients
6.
Ann Work Expo Health ; 67(2): 281-287, 2023 02 13.
Article in English | MEDLINE | ID: mdl-36111348

ABSTRACT

An Australian National Dust Disease Taskforce was established to address the re-emergence of occupational lung disease, in particular silicosis. Exposure to respirable crystalline silica (RCS) occurs in various industries in Australia. We asked occupational hygienists about their practical experiences and perspectives on RCS exposure and regulatory action. A total of 105 members of the Australian Institute of Occupational Hygienists completed an anonymous questionnaire, which addressed individual characteristics, experience, perceived level of employer awareness, effectiveness of current regulation, and recommendations for improvement, across three main industrial sectors. Based on professional experience, 71% were concerned about the potential for RCS over-exposure. Barriers to adequate exposure control included lack of management commitment and financial resources. The employment of specialist occupational hygiene inspectors was considered to be the most effective regulatory strategy. Given the large number of exposed workers in the construction industry, with only a moderate awareness, there is the potential for significant cost shifting of the burden of occupational lung disease from employers on to individuals and the public health system. A nationally consistent approach to RCS exposure control across all industrial sectors is now recommended, with an increased focus on measuring and controlling exposure.


Subject(s)
Air Pollutants, Occupational , Construction Industry , Occupational Diseases , Occupational Exposure , Silicosis , Humans , Occupational Exposure/analysis , Australia/epidemiology , Silicosis/epidemiology , Silicosis/prevention & control , Workplace , Silicon Dioxide/analysis , Occupational Diseases/epidemiology , Occupational Diseases/prevention & control , Dust/analysis , Air Pollutants, Occupational/analysis , Inhalation Exposure/analysis
7.
Am J Respir Crit Care Med ; 206(2): 197-205, 2022 07 15.
Article in English | MEDLINE | ID: mdl-35436176

ABSTRACT

Rationale: The co-occurrence of obstructive sleep apnea and chronic obstructive pulmonary disease, termed overlap syndrome, has a poor prognosis. However, data on positive airway pressure (PAP) treatments and their impact on outcomes and costs are lacking. Objectives: This retrospective observational study investigated the effects of PAP on health outcomes, resource usage, and costs in patients with overlap syndrome. Methods: Deidentified adjudicated claims data for patients with overlap syndrome in the United States were linked to objectively measured PAP user data. Patients were considered adherent to PAP therapy if they met Centers for Medicare and Medicaid Services criteria for eight 90-day timeframes from device setup through 2-year follow-up. Propensity score matching was used to create comparable groups of adherent and nonadherent patients. Healthcare resource usage was based on the number of doctor visits, all-cause emergency room visits, all-cause hospitalizations, and PAP equipment and supplies, and proxy costs were obtained. Measurements and Main Results: A total of 6,810 patients were included (mean age, 60.8 yr; 56% female); 2,328 were nonadherent. Compared with the year before therapy, there were significant reductions in the number of emergency room visits, hospitalizations, and severe acute exacerbations during 2 years of PAP therapy in patients who were versus were not adherent (all P < 0.001). This improvement in health status was paralleled by a significant reduction in the associated healthcare costs. Conclusions: PAP usage by patients with overlap syndrome was associated with reduced all-cause hospitalizations and emergency room visits, severe acute exacerbations, and healthcare costs.


Subject(s)
Pulmonary Disease, Chronic Obstructive , Sleep Apnea, Obstructive , Aged , Continuous Positive Airway Pressure , Female , Humans , Male , Medicare , Middle Aged , Patient Compliance , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/therapy , Retrospective Studies , Sleep Apnea, Obstructive/complications , Sleep Apnea, Obstructive/therapy , United States
8.
Infect Dis Health ; 27(2): 81-95, 2022 05.
Article in English | MEDLINE | ID: mdl-35151628

ABSTRACT

BACKGROUND: Millions of people have acquired and died from SARS-CoV-2 infection during the COVID-19 pandemic. Healthcare workers (HCWs) are required to wear personal protective equipment (PPE), including surgical masks and P2/N95 respirators, to prevent infection while treating patients. However, the comparative effectiveness of respirators and masks in preventing SARS-CoV-2 infection and the likelihood of experiencing adverse events (AEs) with wear are unclear. METHODS: Searches were carried out in PubMed, Europe PMC and the Cochrane COVID-19 Study Register to 14 June 2021. A systematic review of comparative epidemiological studies examining SARS-CoV-2 infection or AE incidence in HCWs wearing P2/N95 (or equivalent) respirators and surgical masks was performed. Article screening, risk of bias assessment and data extraction were duplicated. Meta-analysis of extracted data was carried out in RevMan. RESULTS: Twenty-one studies were included, with most having high risk of bias. There was no statistically significant difference in respirator or surgical mask effectiveness in preventing SARS-CoV-2 infection (OR 0.85, [95%CI 0.72, 1.01]). Healthcare workers experienced significantly more headaches (OR 2.62, [95%CI 1.18, 5.81]), respiratory distress (OR 4.21, [95%CI 1.46, 12.13]), facial irritation (OR 1.80, [95%CI 1.03, 3.14]) and pressure-related injuries (OR 4.39, [95%CI 2.37, 8.15]) when wearing respirators compared to surgical masks. CONCLUSION: The existing epidemiological evidence does not enable definitive assessment of the effectiveness of respirators compared to surgical masks in preventing infection. Healthcare workers wearing respirators may be more likely to experience AEs. Effective mitigation strategies are important to ensure the uptake and correct use of respirators by HCWs.


Subject(s)
COVID-19 , COVID-19/prevention & control , Humans , N95 Respirators/adverse effects , Pandemics/prevention & control , Personal Protective Equipment , SARS-CoV-2
9.
Am J Otolaryngol ; 37(6): 502-506, 2016.
Article in English | MEDLINE | ID: mdl-27968958

ABSTRACT

OBJECTIVE: Requirements of an NCI contract examining a novel treatment for leukoplakia were to compare standard bi-dimensional measurement of oral lesions to examine for correlation with Response Evaluation Criteria in Solid Tumors (RECIST) criteria, and to examine the feasibility of digital image analysis for automated measurements. STUDY DESIGN: Retrospective review. METHODS: We examined 13 patients by bi-dimensional measurement and compared these measurements to 1) RECIST criteria, 2) scalar digital measurements using a standardized measuring device within the photograph, and 3) pixel number. RESULTS: RECIST criteria correlated (r-squared=0.8535, p<0.0001) with bi-dimensional measurements. Digitized measures in photographs correlated with bi-dimensional measurements (r-squared=0.6661, p=0.0007), but were time consuming. There was minimal to no correlation between pixel number in Adobe Photoshop and the other measures. CONCLUSION: Bi-dimensional measurement of oral leukoplakia and RECIST criteria are highly correlated. Digital photography measurements, though highly correlative, are very cumbersome. We recommend bi-dimensional or longest length measurement and a simple photograph as standard of documentation for leukoplakia lesions.


Subject(s)
Leukoplakia, Oral/pathology , Humans , Leukoplakia, Oral/diagnostic imaging , Leukoplakia, Oral/drug therapy , PPAR gamma/antagonists & inhibitors , Photography , Reproducibility of Results , Retrospective Studies , Tumor Burden
10.
J Biomed Inform ; 53: 136-46, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25445922

ABSTRACT

OBJECTIVE: Provide a detailed understanding of the information workflow processes related to translating health promotion materials for limited English proficiency individuals in order to inform the design of context-driven machine translation (MT) tools for public health (PH). MATERIALS AND METHODS: We applied a cognitive work analysis framework to investigate the translation information workflow processes of two large health departments in Washington State. Researchers conducted interviews, performed a task analysis, and validated results with PH professionals to model translation workflow and identify functional requirements for a translation system for PH. RESULTS: The study resulted in a detailed description of work related to translation of PH materials, an information workflow diagram, and a description of attitudes towards MT technology. We identified a number of themes that hold design implications for incorporating MT in PH translation practice. A PH translation tool prototype was designed based on these findings. DISCUSSION: This study underscores the importance of understanding the work context and information workflow for which systems will be designed. Based on themes and translation information workflow processes, we identified key design guidelines for incorporating MT into PH translation work. Primary amongst these is that MT should be followed by human review for translations to be of high quality and for the technology to be adopted into practice. CONCLUSION: The time and costs of creating multilingual health promotion materials are barriers to translation. PH personnel were interested in MT's potential to improve access to low-cost translated PH materials, but expressed concerns about ensuring quality. We outline design considerations and a potential machine translation tool to best fit MT systems into PH practice.


Subject(s)
Health Education/methods , Public Health Practice , Translating , Workflow , Access to Information , Algorithms , Communication , Electronic Data Processing , Focus Groups , Health Promotion , Health Services Accessibility , Humans , Language , Machine Learning , Public Health Administration , Public Health Informatics , Quality Assurance, Health Care , Washington
11.
J Med Internet Res ; 16(3): e79, 2014 Mar 14.
Article in English | MEDLINE | ID: mdl-24642014

ABSTRACT

BACKGROUND: Social networking sites (SNSs) have the potential to increase the reach and efficiency of essential public health services, such as surveillance, research, and communication. OBJECTIVE: The objective of this study was to conduct a systematic literature review to identify the use of SNSs for public health research and practice and to identify existing knowledge gaps. METHODS: We performed a systematic literature review of articles related to public health and SNSs using PubMed, EMBASE, and CINAHL to search for peer-reviewed publications describing the use of SNSs for public health research and practice. We also conducted manual searches of relevant publications. Each publication was independently reviewed by 2 researchers for inclusion and extracted relevant study data. RESULTS: A total of 73 articles met our inclusion criteria. Most articles (n=50) were published in the final 2 years covered by our search. In all, 58 articles were in the domain of public health research and 15 were in public health practice. Only 1 study was conducted in a low-income country. Most articles (63/73, 86%) described observational studies involving users or usages of SNSs; only 5 studies involved randomized controlled trials. A large proportion (43/73, 59%) of the identified studies included populations considered hard to reach, such as young individuals, adolescents, and individuals at risk of sexually transmitted diseases or alcohol and substance abuse. Few articles (2/73, 3%) described using the multidirectional communication potential of SNSs to engage study populations. CONCLUSIONS: The number of publications about public health uses for SNSs has been steadily increasing in the past 5 years. With few exceptions, the literature largely consists of observational studies describing users and usages of SNSs regarding topics of public health interest. More studies that fully exploit the communication tools embedded in SNSs and study their potential to produce significant effects in the overall population's health are needed.


Subject(s)
Public Health Practice , Social Media/statistics & numerical data , Social Networking , Adolescent , Adult , Biomedical Research , Humans , Substance-Related Disorders , United States , Young Adult
12.
J Public Health Manag Pract ; 20(5): 523-9, 2014.
Article in English | MEDLINE | ID: mdl-24084391

ABSTRACT

CONTEXT: Most local public health departments serve limited English proficiency groups but lack sufficient resources to translate the health promotion materials that they produce into different languages. Machine translation (MT) with human postediting could fill this gap and work toward decreasing health disparities among non-English speakers. OBJECTIVES: (1) To identify the time and costs associated with human translation (HT) of public health documents, (2) determine the time necessary for human postediting of MT, and (3) compare the quality of postedited MT and HT. DESIGN: A quality comparison of 25 MT and HT documents was performed with public health translators. The public health professionals involved were queried about the workflow, costs, and time for HT of 11 English public health documents over a 20-month period. Three recently translated documents of similar size and topic were then machine translated, the time for human postediting was recorded, and a blind quality analysis was performed. SETTING: Seattle/King County, Washington. PARTICIPANTS: Public health professionals. MAIN OUTCOME MEASURES: (1) Estimated times for various HT tasks; (2) observed postediting times for MT documents; (3) actual costs for HT; and (4) comparison of quality ratings for HT and MT. RESULTS: Human translation via local health department methods took 17 hours to 6 days. While HT postediting words per minute ranged from 1.58 to 5.88, MT plus human postediting words per minute ranged from 10 to 30. The cost of HT ranged from $130 to $1220; MT required no additional costs. A quality comparison by bilingual public health professionals showed that MT and HT were equivalently preferred. CONCLUSIONS: MT with human postediting can reduce the time and costs of translating public health materials while maintaining quality similar to HT. In conjunction with postediting, MT could greatly improve the availability of multilingual public health materials.


Subject(s)
Electronic Data Processing , Health Promotion , Public Health Informatics , Public Health Practice , Quality Control , Translating , Access to Information , Electronic Data Processing/economics , Humans , Language , Machine Learning/economics , Public Health Informatics/economics , Time Factors
13.
Prev Chronic Dis ; 10: E168, 2013 Oct 03.
Article in English | MEDLINE | ID: mdl-24135392

ABSTRACT

INTRODUCTION: Increased acceptance of nutrition benefits at farmers markets could improve access to nutritious foods for low-income shoppers. The objective of this study was to evaluate a pilot project to increase participation by farmers markets and their vendors in the Supplemental Nutrition Assistance Program (SNAP) and Special Supplemental Nutrition Program for Women, Infants, and Children (WIC). METHODS: The intervention targeted 9 markets in lower-income regions of King County, Washington. Markets and vendors were offered subsidized electronic benefits transfer (EBT) terminals for processing SNAP, and vendors could apply to accept WIC cash value vouchers. WIC staff received information on using SNAP and vouchers at farmers markets. We used mixed methods post-implementation to measure participation, describe factors in acceptance of benefits, and assess information needs for WIC staff to conduct effective outreach. RESULTS: Of approximately 88 WIC-eligible vendors, 38 agreed to accept vouchers. Ten of 125 vendors installed an EBT terminal, and 6 markets installed a central market terminal. The number of market stalls accepting SNAP increased from 80 to 143, an increase of 79%. Participating vendors wanted to provide access to SNAP and WIC shoppers, although redemption rates were low. Some WIC staff members were unfamiliar with markets, which hindered outreach. CONCLUSION: Vendors and markets value low-income shoppers and, when offered support, will take on some inconvenience to serve them. To improve participation and sustainability, we recommend ongoing subsidies and streamlined procedures better suited to meet markets' capabilities. Low EBT redemption rates at farmers markets suggest a need for more outreach to low-income shoppers and relationship building with WIC staff.


Subject(s)
Commerce , Food Assistance/economics , Electronic Data Processing/economics , Electronic Data Processing/instrumentation , Food Supply/economics , Health Promotion/economics , Humans , Pilot Projects , United States , United States Department of Agriculture , Wireless Technology/economics , Wireless Technology/instrumentation
14.
Case Rep Med ; 2011: 903910, 2011.
Article in English | MEDLINE | ID: mdl-22194755

ABSTRACT

Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respiratory compromise and pancreatic sufficiency. When genetic testing was first performed using a CF mutation panel, only a single F508del CFTR allele was identified. We subsequently performed testing, which revealed a previously unreported mutation: A457P (p.Ala457Pro, c.1369G>C). The patient's clinical course through adulthood is described, and genotype-phenotype correlation is discussed. The A457P mutation appears to confer a relatively mild phenotype, as is usually observed with CFTR class IV-VI defects. With the advent of more comprehensive and widely available genetic testing techniques, identification of CF genotypes in patients with milder disease variants may help stratify patients for targeted therapy and prevent late complications of the disease.

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