-
Jornal Brasileiro de Nefrologia 2024Identifying risk factors for autosomal dominant polycystic kidney disease (ADPKD) progression is important. However, studies that have evaluated this subject using a...
INTRODUCTION
Identifying risk factors for autosomal dominant polycystic kidney disease (ADPKD) progression is important. However, studies that have evaluated this subject using a Brazilian sample is sparce. Therefore, the aim of this study was to identify risk factors for renal outcomes and death in a Brazilian cohort of ADPKD patients.
METHODS
Patients had the first medical appointment between January 2002 and December 2014, and were followed up until December 2019. Associations between clinical and laboratory variables with the primary outcome (sustained decrease of at least 57% in the eGFR from baseline, need for dialysis or renal transplantation) and the secondary outcome (death from any cause) were analyzed using a multiple Cox regression model. Among 80 ADPKD patients, those under 18 years, with glomerular filtration rate <30 mL/min/1.73 m2, and/or those with missing data were excluded. There were 70 patients followed.
RESULTS
The factors independently associated with the renal outcomes were total kidney length - adjusted Hazard Ratio (HR) with a 95% confidence interval (95% CI): 1.137 (1.057-1.224), glomerular filtration rate - HR (95% CI): 0.970 (0.949-0.992), and serum uric acid level - HR (95% CI): 1.643 (1.118-2.415). Diabetes mellitus - HR (95% CI): 8.115 (1.985-33.180) and glomerular filtration rate - HR (95% CI): 0.957 (0.919-0.997) were associated with the secondary outcome.
CONCLUSIONS
These findings corroborate the hypothesis that total kidney length, glomerular filtration rate and serum uric acid level may be important prognostic predictors of ADPKD in a Brazilian cohort, which could help to select patients who require closer follow up.
Topics: Humans; Polycystic Kidney, Autosomal Dominant; Male; Female; Disease Progression; Brazil; Glomerular Filtration Rate; Adult; Middle Aged; Risk Factors; Cohort Studies; Uric Acid; Retrospective Studies
PubMed: 38935976
DOI: 10.1590/2175-8239-JBN-2023-0040en -
JMIR Bioinformatics and Biotechnology May 2024The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with...
BACKGROUND
The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary disease that causes stroke and other neurological symptoms.
OBJECTIVE
We aimed to identify the variants of NOTCH3 and thrombophilia genes, and their complex interactions with other factors.
METHODS
We conducted a hierarchical cluster analysis (HCA) on the data of 100 patients diagnosed with ischemic stroke. The variants of NOTCH3 and thrombophilia genes were identified by polymerase chain reaction with confronting 2-pair primers and real-time polymerase chain reaction. The overall preclinical characteristics, cumulative cutpoint values, and factors associated with these somatic mutations were analyzed in unidimensional and multidimensional scaling models.
RESULTS
We identified the following optimal cutpoints: creatinine, 83.67 (SD 9.19) µmol/L; age, 54 (SD 5) years; prothrombin (PT) time, 13.25 (SD 0.17) seconds; and international normalized ratio (INR), 1.02 (SD 0.03). Using the Nagelkerke method, cutpoint 50% values of the Glasgow Coma Scale score; modified Rankin scale score; and National Institutes of Health Stroke Scale scores at admission, after 24 hours, and at discharge were 12.77, 2.86 (SD 1.21), 9.83 (SD 2.85), 7.29 (SD 2.04), and 6.85 (SD 2.90), respectively.
CONCLUSIONS
The variants of MTHFR (C677T and A1298C) and NOTCH3 p.R544C may influence the stroke severity under specific conditions of PT, creatinine, INR, and BMI, with risk ratios of 4.8 (95% CI 1.53-15.04) and 3.13 (95% CI 1.60-6.11), respectively (P<.05). It is interesting that although there are many genes linked to increased atrial fibrillation risk, not all of them are associated with ischemic stroke risk. With the detection of stroke risk loci, more information can be gained on their impacts and interconnections, especially in young patients.
PubMed: 38935968
DOI: 10.2196/56884 -
JMIR Formative Research Jun 2024Urinary incontinence (UI) affects millions of women with substantial health and quality-of-life impacts. Supervised pelvic floor muscle training (PFMT) is the...
BACKGROUND
Urinary incontinence (UI) affects millions of women with substantial health and quality-of-life impacts. Supervised pelvic floor muscle training (PFMT) is the recommended first-line treatment. However, multiple individual and institutional barriers impede women's access to skilled care. Evidence suggests that digital health solutions are acceptable and may be effective in delivering first-line incontinence treatment, although these technologies have not yet been leveraged at scale.
OBJECTIVE
The primary objective is to describe the effectiveness and safety of a prescribed digital health treatment program to guide PFMT for UI treatment among real-world users. The secondary objectives are to evaluate patient engagement following an updated user platform and identify the factors predictive of success.
METHODS
This retrospective cohort study of women who initiated device use between January 1, 2022, and June 30, 2023, included users aged ≥18 years old with a diagnosis of stress, urgency, or mixed incontinence or a score of >33.3 points on the Urogenital Distress Inventory Short Form (UDI-6). Users are prescribed a 2.5-minute, twice-daily, training program guided by an intravaginal, motion-based device that pairs with a smartphone app. Data collected by the device or app include patient-reported demographics and outcomes, adherence to the twice-daily regimen, and pelvic floor muscle performance parameters, including angle change and hold time. Symptom improvement was assessed by the UDI-6 score change from baseline to the most recent score using paired 2-tailed t tests. Factors associated with meeting the UDI-6 minimum clinically important difference were evaluated by regression analysis.
RESULTS
Of 1419 users, 947 met inclusion criteria and provided data for analysis. The mean baseline UDI-6 score was 46.8 (SD 19.3), and the mean UDI-6 score change was 11.3 (SD 19.9; P<.001). Improvement was reported by 74% (697/947) and was similar across age, BMI, and incontinence subtype. Mean adherence was 89% (mean 12.5, SD 2.1 of 14 possible weekly uses) over 12 weeks. Those who used the device ≥10 times per week were more likely to achieve symptom improvement. In multivariate logistic regression analysis, baseline incontinence symptom severity and maximum angle change during pelvic floor muscle contraction were significantly associated with meeting the UDI-6 minimum clinically important difference. Age, BMI, and UI subtype were not associated.
CONCLUSIONS
This study provides real-world evidence to support the effectiveness and safety of a prescribed digital health treatment program for female UI. A digital PFMT program completed with visual guidance from a motion-based device yields significant results when executed ≥10 times per week over a period of 12 weeks. The program demonstrates high user engagement, with 92.9% (880/947) of users adhering to the prescribed training regimen. First-line incontinence treatment, when implemented using this digital program, leads to statistically and clinically substantial symptom improvements across age and BMI categories and incontinence subtypes.
PubMed: 38935967
DOI: 10.2196/58551 -
JMIR Bioinformatics and Biotechnology Aug 2023Genetic testing is essential to identify research participants for clinical trials enrolling people with Parkinson disease (PD) carrying a variant in the...
BACKGROUND
Genetic testing is essential to identify research participants for clinical trials enrolling people with Parkinson disease (PD) carrying a variant in the glucocerebrosidase (GBA) or leucine-rich repeat kinase 2 (LRRK2) genes. The limited availability of professionals trained in neurogenetics or genetic counseling is a major barrier to increased testing. Telehealth solutions to increase access to genetics education can help address issues around counselor availability and offer options to patients and family members.
OBJECTIVE
As an alternative to pretest genetic counseling, we developed a web-based genetics education tool focused on GBA and LRRK2 testing for PD called the Interactive Multimedia Approach to Genetic Counseling to Inform and Educate in Parkinson's Disease (IMAGINE-PD) and conducted user testing and usability testing. The objective was to conduct user and usability testing to obtain stakeholder feedback to improve IMAGINE-PD.
METHODS
Genetic counselors and PD and neurogenetics subject matter experts developed content for IMAGINE-PD specifically focused on GBA and LRRK2 genetic testing. Structured interviews were conducted with 11 movement disorder specialists and 13 patients with PD to evaluate the content of IMAGINE-PD in user testing and with 12 patients with PD to evaluate the usability of a high-fidelity prototype according to the US Department of Health and Human Services Research-Based Web Design & Usability Guidelines. Qualitative data analysis informed changes to create a final version of IMAGINE-PD.
RESULTS
Qualitative data were reviewed by 3 evaluators. Themes were identified from feedback data of movement disorder specialists and patients with PD in user testing in 3 areas: content such as the topics covered, function such as website navigation, and appearance such as pictures and colors. Similarly, qualitative analysis of usability testing feedback identified additional themes in these 3 areas. Key points of feedback were determined by consensus among reviewers considering the importance of the comment and the frequency of similar comments. Refinements were made to IMAGINE-PD based on consensus recommendations by evaluators within each theme at both user testing and usability testing phases to create a final version of IMAGINE-PD.
CONCLUSIONS
User testing for content review and usability testing have informed refinements to IMAGINE-PD to develop this focused, genetics education tool for GBA and LRRK2 testing. Comparison of this stakeholder-informed intervention to standard telegenetic counseling approaches is ongoing.
PubMed: 38935961
DOI: 10.2196/45370 -
JMIR Bioinformatics and Biotechnology May 2024Genetic data are widely considered inherently identifiable. However, genetic data sets come in many shapes and sizes, and the feasibility of privacy attacks depends on... (Review)
Review
BACKGROUND
Genetic data are widely considered inherently identifiable. However, genetic data sets come in many shapes and sizes, and the feasibility of privacy attacks depends on their specific content. Assessing the reidentification risk of genetic data is complex, yet there is a lack of guidelines or recommendations that support data processors in performing such an evaluation.
OBJECTIVE
This study aims to gain a comprehensive understanding of the privacy vulnerabilities of genetic data and create a summary that can guide data processors in assessing the privacy risk of genetic data sets.
METHODS
We conducted a 2-step search, in which we first identified 21 reviews published between 2017 and 2023 on the topic of genomic privacy and then analyzed all references cited in the reviews (n=1645) to identify 42 unique original research studies that demonstrate a privacy attack on genetic data. We then evaluated the type and components of genetic data exploited for these attacks as well as the effort and resources needed for their implementation and their probability of success.
RESULTS
From our literature review, we derived 9 nonmutually exclusive features of genetic data that are both inherent to any genetic data set and informative about privacy risk: biological modality, experimental assay, data format or level of processing, germline versus somatic variation content, content of single nucleotide polymorphisms, short tandem repeats, aggregated sample measures, structural variants, and rare single nucleotide variants.
CONCLUSIONS
On the basis of our literature review, the evaluation of these 9 features covers the great majority of privacy-critical aspects of genetic data and thus provides a foundation and guidance for assessing genetic data risk.
PubMed: 38935957
DOI: 10.2196/54332 -
JMIR Research Protocols Jun 2024Sound therapy methods have seen a surge in popularity, with a predominant focus on music among all types of sound stimulation. There is substantial evidence documenting... (Review)
Review
BACKGROUND
Sound therapy methods have seen a surge in popularity, with a predominant focus on music among all types of sound stimulation. There is substantial evidence documenting the integrative impact of music therapy on psycho-emotional and physiological outcomes, rendering it beneficial for addressing stress-related conditions such as pain syndromes, depression, and anxiety. Despite these advancements, the therapeutic aspects of sound, as well as the mechanisms underlying its efficacy, remain incompletely understood. Existing research on music as a holistic cultural phenomenon often overlooks crucial aspects of sound therapy mechanisms, particularly those related to speech acoustics or the so-called "music of speech."
OBJECTIVE
This study aims to provide an overview of empirical research on sound interventions to elucidate the mechanism underlying their positive effects. Specifically, we will focus on identifying therapeutic factors and mechanisms of change associated with sound interventions. Our analysis will compare the most prevalent types of sound interventions reported in clinical studies and experiments. Moreover, we will explore the therapeutic effects of sound beyond music, encompassing natural human speech and intermediate forms such as traditional poetry performances.
METHODS
This review adheres to the methodological guidance of the Joanna Briggs Institute and follows the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) checklist for reporting review studies, which is adapted from the Arksey and O'Malley framework. Our search strategy encompasses PubMed, Web of Science, Scopus, and PsycINFO or EBSCOhost, covering literature from 1990 to the present. Among the different study types, randomized controlled trials, clinical trials, laboratory experiments, and field experiments were included.
RESULTS
Data collection began in October 2022. We found a total of 2027 items. Our initial search uncovered an asymmetry in the distribution of studies, with a larger number focused on music therapy compared with those exploring prosody in spoken interventions such as guided meditation or hypnosis. We extracted and selected papers using Rayyan software (Rayyan) and identified 41 eligible papers after title and abstract screening. The completion of the scoping review is anticipated by October 2024, with key steps comprising the analysis of findings by May 2024, drafting and revising the study by July 2024, and submitting the paper for publication in October 2024.
CONCLUSIONS
In the next step, we will conduct a quality evaluation of the papers and then chart and group the therapeutic factors extracted from them. This process aims to unveil conceptual gaps in existing studies. Gray literature sources, such as Google Scholar, ClinicalTrials.gov, nonindexed conferences, and reference list searches of retrieved studies, will be added to our search strategy to increase the number of relevant papers that we cover.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID)
DERR1-10.2196/54030.
Topics: Humans; Stress, Psychological; Music Therapy; Adult
PubMed: 38935945
DOI: 10.2196/54030 -
JMIR Cancer Jun 2024Many supportive cancer care (SCC) services were teledelivered during COVID-19, but what facilitates patients' intentions to use teledelivered SCC is unknown.
Applying the Unified Theory of Acceptance and Use of Technology to Identify Factors Associated With Intention to Use Teledelivered Supportive Care Among Recently Diagnosed Breast Cancer Survivors During COVID-19 in Hong Kong: Cross-Sectional Survey.
BACKGROUND
Many supportive cancer care (SCC) services were teledelivered during COVID-19, but what facilitates patients' intentions to use teledelivered SCC is unknown.
OBJECTIVE
The study aimed to use the unified theory of acceptance and use of technology to investigate the factors associated with the intentions of breast cancer survivors (BCS) in Hong Kong to use various types of teledelivered SCC (including psychosocial care, medical consultation, complementary care, peer support groups). Favorable telehealth-related perceptions (higher performance expectancy, lower effort expectancy, more facilitating conditions, positive social influences), less technological anxiety, and greater fear of COVID-19 were hypothesized to be associated with higher intentions to use teledelivered SCC. Moreover, the associations between telehealth-related perceptions and intentions to use teledelivered SCC were hypothesized to be moderated by education level, such that associations between telehealth-related perceptions and intentions to use teledelivered SCC would be stronger among those with a higher education level.
METHODS
A sample of 209 (209/287, 72.8% completion rate) women diagnosed with breast cancer since the start of the COVID-19 outbreak in Hong Kong (ie, January 2020) were recruited from the Hong Kong Breast Cancer Registry to complete a cross-sectional survey between June 2022 and December 2022. Participants' intentions to use various types of teledelivered SCC (dependent variables), telehealth-related perceptions (independent variables), and sociodemographic variables (eg, education, as a moderator variable) were measured using self-reported, validated measures.
RESULTS
Hierarchical regression analysis results showed that greater confidence using telehealth, performance expectancy (believing telehealth helps with daily tasks), social influence (important others encouraging telehealth use), and facilitating conditions (having resources for telehealth use) were associated with higher intentions to use teledelivered SCC (range: β=0.16, P=.03 to β=0.34, P<.001). Moreover, 2-way interactions emerged between education level and 2 of the telehealth perception variables. Education level moderated the associations between (1) performance expectancy and intention to use teledelivered complementary care (β=0.34, P=.04) and (2) facilitating conditions and intention to use teledelivered peer support groups (β=0.36, P=.03). The positive associations between those telehealth perceptions and intentions were only significant among those with a higher education level.
CONCLUSIONS
The findings of this study implied that enhancing BCS' skills at using telehealth, BCS' and their important others' perceived benefits of telehealth, and providing assistance for telehealth use could increase BCS' intentions to use teledelivered SCC. For intentions to use specific types of SCC, addressing relevant factors (performance expectancy, facilitating conditions) might be particularly beneficial for those with a higher education level.
PubMed: 38935942
DOI: 10.2196/51072 -
Aging Jun 2024The primary objective of this study was to assess the diagnostic potential of galectin-3 (Gal-3), fractalkine (FKN), interleukin (IL)-6, microRNA(miR)-21, and cardiac...
OBJECTIVE
The primary objective of this study was to assess the diagnostic potential of galectin-3 (Gal-3), fractalkine (FKN), interleukin (IL)-6, microRNA(miR)-21, and cardiac troponin I (cTnI) in patients with ischemic cardiomyopathy (ICM).
METHOD
A total of 78 ICM patients (Case group) and 80 healthy volunteers (Control group) admitted to our hospital for treatment or physical examination from Aug. 2018 to Feb. 2020 were included in the current study. The serum concentration of Gal-3, FKN, IL-6, miR-21, and plasma expression of cTnI of both groups were determined. The severity of ICM was classified using New York Heart Association (NYHA) scale.
RESULTS
When compared with the control group, the case group had a significantly high blood concentration of Gal-3, FKN, IL-6, miR-21, and cTnI ( < 0.001). NYHA class II patients had lower blood levels of Gal-3, FKN, IL-6, miR-21, and cTnI than that in patients of NYHA class III and IV without statistical significance ( > 0.05). However, statistical significance could be achieved when comparing the above-analyzed markers in patients classified between class III and IV. Correlation analysis also revealed that serum levels of Gal-3, FKN, IL-6, miR-21, and cTnI were positively correlated with NYHA classification (R = 0.564, 0.621, 0.792, 0.981, < 0.05).
CONCLUSION
Our study revealed that up-regulated serum Gal-3, FKN, IL-6, miR-21, and cTnI levels were closely related to the progression of ICM. This association implies that these biomarkers have diagnostic potential, offering a promising avenue for early detection and monitoring of ICM progression.
Topics: Humans; Female; Male; Troponin I; Interleukin-6; MicroRNAs; Chemokine CX3CL1; Middle Aged; Galectin 3; Biomarkers; Aged; Myocardial Ischemia; Cardiomyopathies; Case-Control Studies; Galectins; Blood Proteins
PubMed: 38935941
DOI: 10.18632/aging.205953 -
Journal of Medical Internet Research Jun 2024Artificial intelligence, particularly chatbot systems, is becoming an instrumental tool in health care, aiding clinical decision-making and patient engagement. (Comparative Study)
Comparative Study
BACKGROUND
Artificial intelligence, particularly chatbot systems, is becoming an instrumental tool in health care, aiding clinical decision-making and patient engagement.
OBJECTIVE
This study aims to analyze the performance of ChatGPT-3.5 and ChatGPT-4 in addressing complex clinical and ethical dilemmas, and to illustrate their potential role in health care decision-making while comparing seniors' and residents' ratings, and specific question types.
METHODS
A total of 4 specialized physicians formulated 176 real-world clinical questions. A total of 8 senior physicians and residents assessed responses from GPT-3.5 and GPT-4 on a 1-5 scale across 5 categories: accuracy, relevance, clarity, utility, and comprehensiveness. Evaluations were conducted within internal medicine, emergency medicine, and ethics. Comparisons were made globally, between seniors and residents, and across classifications.
RESULTS
Both GPT models received high mean scores (4.4, SD 0.8 for GPT-4 and 4.1, SD 1.0 for GPT-3.5). GPT-4 outperformed GPT-3.5 across all rating dimensions, with seniors consistently rating responses higher than residents for both models. Specifically, seniors rated GPT-4 as more beneficial and complete (mean 4.6 vs 4.0 and 4.6 vs 4.1, respectively; P<.001), and GPT-3.5 similarly (mean 4.1 vs 3.7 and 3.9 vs 3.5, respectively; P<.001). Ethical queries received the highest ratings for both models, with mean scores reflecting consistency across accuracy and completeness criteria. Distinctions among question types were significant, particularly for the GPT-4 mean scores in completeness across emergency, internal, and ethical questions (4.2, SD 1.0; 4.3, SD 0.8; and 4.5, SD 0.7, respectively; P<.001), and for GPT-3.5's accuracy, beneficial, and completeness dimensions.
CONCLUSIONS
ChatGPT's potential to assist physicians with medical issues is promising, with prospects to enhance diagnostics, treatments, and ethics. While integration into clinical workflows may be valuable, it must complement, not replace, human expertise. Continued research is essential to ensure safe and effective implementation in clinical environments.
Topics: Humans; Clinical Decision-Making; Artificial Intelligence
PubMed: 38935937
DOI: 10.2196/54571 -
JCO Clinical Cancer Informatics Jun 2024The expanding presence of the electronic health record (EHR) underscores the necessity for improved interoperability. To test the interoperability within the field of...
Minimal Common Oncology Data Elements Genomics Pilot Project: Enhancing Oncology Research Through Electronic Health Record Interoperability at Vanderbilt University Medical Center.
PURPOSE
The expanding presence of the electronic health record (EHR) underscores the necessity for improved interoperability. To test the interoperability within the field of oncology research, our team at Vanderbilt University Medical Center (VUMC) enabled our Epic-based EHR to be compatible with the Minimal Common Oncology Data Elements (mCODE), which is a Fast Healthcare Interoperability Resources (FHIR)-based consensus data standard created to facilitate the transmission of EHRs for patients with cancer.
METHODS
Our approach used an extract, transform, load tool for converting EHR data from the VUMC Epic Clarity database into mCODE-compatible profiles. We established a sandbox environment on Microsoft Azure for data migration, deployed a FHIR server to handle application programming interface (API) requests, and mapped VUMC data to align with mCODE structures. In addition, we constructed a web application to demonstrate the practical use of mCODE profiles in health care.
RESULTS
We developed an end-to-end pipeline that converted EHR data into mCODE-compliant profiles, as well as a web application that visualizes genomic data and provides cancer risk assessments. Despite the complexities of aligning traditional EHR databases with mCODE standards and the limitations of FHIR APIs in supporting advanced statistical methodologies, this project successfully demonstrates the practical integration of mCODE standards into existing health care infrastructures.
CONCLUSION
This study provides a proof of concept for the interoperability of mCODE within a major health care institution's EHR system, highlighting both the potential and the current limitations of FHIR APIs in supporting complex data analysis for oncology research.
Topics: Humans; Electronic Health Records; Pilot Projects; Medical Oncology; Genomics; Academic Medical Centers; Neoplasms; Common Data Elements; Software; Health Information Interoperability
PubMed: 38935887
DOI: 10.1200/CCI.23.00249