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European Journal of Medical Genetics Dec 2023knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone...
BACKGROUND
knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community.
OBJECTIVE
to map existing bone and mineral conditions registries in Europe and their characteristics.
METHODS
online survey about the use of registries/databases and their characteristics. This survey was disseminated among members of the European Reference Network on Rare Bone Diseases (ERN BOND) and non-ERN experts in the field of bone and mineral conditions as well as patient organisations.
RESULTS
sixty-three responses from health care providers (HCPs) and 10 responses from patient groups (PGs) were collected. The response rate for ERN BOND members was 55%. Of 63 HCPs, 37 declared using a registry. Osteogenesis imperfecta (OI) was the most registered condition. We mapped 3 international registries, all were disease-specific.
CONCLUSIONS
There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.
Topics: Humans; Registries; Europe; Rare Diseases; Databases, Factual; Bone Diseases; Data Collection; Osteogenesis Imperfecta
PubMed: 38832910
DOI: 10.1016/j.ejmg.2023.104868 -
Bundesgesundheitsblatt,... Oct 2023Racism and discrimination as social determinants of health are becoming increasingly recognised in public health research in Germany. Studies show correlations with... (Review)
Review
Racism and discrimination as social determinants of health are becoming increasingly recognised in public health research in Germany. Studies show correlations with physical and mental health and even changes at the cellular level. In addition to the adverse health effects of interpersonal and direct discrimination, the relevance of structural and institutional racism for health inequalities has been little explored. This narrative review synthesises and critically discusses relevant and recent research findings and makes recommendations for action in research and practice.Structural and institutional aspects of discrimination and racism are closely linked to health. Systemic discrimination in education, employment, housing and healthcare affects overall, mental and physical health, access to prevention and care, and health behaviour.An analysis of the relationship between living, housing and working conditions and the health situation of people with (and without) a history of migration - in general and in relation to racism and discrimination - seems necessary in order to derive targeted measures for structural prevention, rather than focusing on purely behavioural prevention. In addition to practical interventions (trainings, education, and community-based approaches), the further development of methodological aspects in the field of data collection and analysis is important in order to address this issue comprehensively in research and practice.
Topics: Humans; Racism; Germany; Educational Status; Data Collection; Drug-Related Side Effects and Adverse Reactions
PubMed: 37735190
DOI: 10.1007/s00103-023-03764-7 -
PloS One 2023There are many initiatives attempting to harmonize data collection across human clinical studies using common data elements (CDEs). The increased use of CDEs in large...
There are many initiatives attempting to harmonize data collection across human clinical studies using common data elements (CDEs). The increased use of CDEs in large prior studies can guide researchers planning new studies. For that purpose, we analyzed the All of Us (AoU) program, an ongoing US study intending to enroll one million participants and serve as a platform for numerous observational analyses. AoU adopted the OMOP Common Data Model to standardize both research (Case Report Form [CRF]) and real-world (imported from Electronic Health Records [EHRs]) data. AoU standardized specific data elements and values by including CDEs from terminologies such as LOINC and SNOMED CT. For this study, we defined all elements from established terminologies as CDEs and all custom concepts created in the Participant Provided Information (PPI) terminology as unique data elements (UDEs). We found 1 033 research elements, 4 592 element-value combinations and 932 distinct values. Most elements were UDEs (869, 84.1%), while most CDEs were from LOINC (103 elements, 10.0%) or SNOMED CT (60, 5.8%). Of the LOINC CDEs, 87 (53.1% of 164 CDEs) originated from previous data collection initiatives, such as PhenX (17 CDEs) and PROMIS (15 CDEs). On a CRF level, The Basics (12 of 21 elements, 57.1%) and Lifestyle (10 of 14, 71.4%) were the only CRFs with multiple CDEs. On a value level, 61.7% of distinct values are from an established terminology. AoU demonstrates the use of the OMOP model for integrating research and routine healthcare data (64 elements in both contexts), which allows for monitoring lifestyle and health changes outside the research setting. The increased inclusion of CDEs in large studies (like AoU) is important in facilitating the use of existing tools and improving the ease of understanding and analyzing the data collected, which is more challenging when using study specific formats.
Topics: Humans; Common Data Elements; Population Health; Data Collection; Systematized Nomenclature of Medicine; Delivery of Health Care
PubMed: 37418391
DOI: 10.1371/journal.pone.0283601 -
HIV Medicine Feb 2024An increasing number of women living with HIV are transitioning through midlife and menopause. Women living with HIV may experience earlier menopause and a higher... (Review)
Review
OBJECTIVES
An increasing number of women living with HIV are transitioning through midlife and menopause. Women living with HIV may experience earlier menopause and a higher symptom burden than women without HIV, but more evidence is needed. Data collection on menopause in women living with HIV is scarce and often not standardized. We sought to assess how menopause data are collected in cohorts and studies of women living with HIV.
METHODS
This was a literature review conducted within the PubMed database. We included original studies and cohorts assessing menopause and/or menopausal symptoms in women living with HIV. Study characteristics and menopause data collection, including the definition of menopause, symptom assessment tools, and measurement of biomedical parameters, were noted and summarized systematically in data tables.
RESULTS
We included 40 articles describing 37 separate studies published between 2000 and 2023; 27 of these were conducted in high-income countries, the majority in the USA (n = 16). Ten studies were from low- and middle-income countries; four of these were conducted in Brazil. In 20 studies, menopause was defined according to the World Health Organization's definition of over 12 months of amenorrhea. Twelve studies used the Menopause Rating Scale to characterize menopausal symptoms, five studies used other specified symptom assessment tools, and 12 studies used a study-specific tool.
CONCLUSIONS
Menopause data collection in women living with HIV is heterogeneous. We propose that standardized tools should be used to enable comparisons between studies and countries, thereby improving the quality of research and clinical treatment. Further research into the validity of menopausal symptom scoring tools is warranted.
Topics: Female; Humans; HIV Infections; Menopause; Data Collection; Brazil
PubMed: 37776176
DOI: 10.1111/hiv.13552 -
Quality of Life Research : An... Oct 2023We conducted a health economic sub-study within a feasibility RCT comparing a non-operative treatment pathway as an alternative to appendicectomy for the treatment of...
OBJECTIVES
We conducted a health economic sub-study within a feasibility RCT comparing a non-operative treatment pathway as an alternative to appendicectomy for the treatment of uncomplicated acute appendicitis in children. The objectives were to understand and assess data collection tools and methods and to determine indicative costs and benefits assessing the feasibility of conducting a full economic evaluation within the definitive trial.
METHODS
We compared different methods of estimating treatment costs including micro-costing, hospital administrative data (PLICS) and health system (NHS) reference costs. We compared two different HRQoL instruments (CHU-9D and EQ-5D-5L) in terms of data completeness and sensitivity to change over time, including potential ceiling effects. We also explored how the timing of data collection and duration of the analysis could affect QALYs (Quality Adjusted Life Years) and the results of the cost-utility analysis (CUA) within the future RCT.
RESULTS
Using a micro-costing approach, the total per treatment costs were in alignment with hospital administrative data (PLICS). Average health system reference cost data (macro-costing using NHS costs) could potentially underestimate these treatment costs, particularly for non-operative treatment. Costs incurred following hospital discharge in the primary care setting were minimal, and limited family borne costs were reported by parents/carers. While both HRQoL instruments performed relatively well, our results highlight the problem of ceiling effect and the importance of the timing of data collection and the duration of the analysis in any future assessment using QALYs and CUA.
CONCLUSIONS
We highlighted the importance of obtaining accurate individual-patient cost data when conducting economic evaluations. Our results suggest that timing of data collection and duration of the assessment are important considerations when evaluating cost-effectiveness and reporting cost per QALY.
CLINICAL TRIAL REGISTRATION
Current Controlled Trials ISRCTN15830435.
Topics: Humans; Child; Appendicitis; Quality of Life; Cost-Benefit Analysis; Health Care Costs; Cost-Effectiveness Analysis; Quality-Adjusted Life Years
PubMed: 37286916
DOI: 10.1007/s11136-023-03442-w -
Seminars in Oncology Nursing Dec 2023To critically synthesize and describe the use and methods of ecological momentary assessment (EMA) in cancer research. (Review)
Review
OBJECTIVE
To critically synthesize and describe the use and methods of ecological momentary assessment (EMA) in cancer research.
DATA SOURCES
A systematic review was conducted and has been reported according to the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) Guideline. Electronic databases (APA PsycINFO, CINAHL, Cochrane Central Register of Controlled Trials, MEDLINE, Scopus, and Web of Science Core Collection) were searched using a variety of keywords and subject headings by an expert systematic review librarian. All publications were double screened by two reviewers using predetermined exclusion and inclusion criteria throughout the full review process. The review used Covidence Systematic Review Software. Methodological quality assessment and data extraction were performed. A narrative synthesis was conducted to examine the aim for EMA, the characteristics of the study samples, the EMA sampling procedures, EMA completion rates, outcome measures, and any implications of findings for survivorship care.
CONCLUSION
A total of 42 EMA studies in cancer were included. Most studies used an electronic mobile device to capture EMA data apart from several that used paper diaries. Existing studies were found to have significant heterogeneity in methods and widely varying approaches to design and self-report measurements. While EMA in cancer research holds significant promise to advance cancer care research into the future by increasing ecological validity and reducing retrospective bias and can capture the unique idiographic within-person change over time, in real-time, further research is needed to develop standardized EMA self-report questionnaires.
IMPLICATIONS FOR NURSING PRACTICE
This is the first comprehensive systematic review to describe the use and methods of EMA in cancer research. There is significant heterogeneity in methods and widely varying approaches to design and self-report measurements in EMA cancer research. People affected by cancer found taking part in EMA studies reported benefit from the experience. However, researchers must engage with cancer survivors in the development and co-design of future EMA questionnaires to ensure relevant and acceptability of EMA data collection protocols.
Topics: Humans; Ecological Momentary Assessment; Retrospective Studies; Surveys and Questionnaires; Self Report; Research Design; Neoplasms
PubMed: 37865555
DOI: 10.1016/j.soncn.2023.151514 -
Thrombosis Research Apr 2024Long peripheral catheters (LPCs) and midline catheters (MCs) are indiscriminately labelled with different names, leading to misclassifications both in primary and... (Review)
Review
INTRODUCTION
Long peripheral catheters (LPCs) and midline catheters (MCs) are indiscriminately labelled with different names, leading to misclassifications both in primary and secondary studies. The available studies used different methods to report the incidence of catheter-related complications, affecting the possibility of properly comparing the catheter outcomes. The aim of this review was to explore the complications related to LPCs and MCs after reclassifying according to their length.
METHODS
Systematic literature review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses, conducted on PubMed, Scopus and CINAHL databases. The study protocol was registered in the International Prospective Register of Systematic Reviews. Data regarding LPCs and MCs were compared. Catheter outcomes were classified into major and minor complications, recomputed and reported as cases/1000 catheter-days.
RESULTS
Fourteen studies were included. Over-half of the devices were correctly labelled by the authors, misclassifications affected particularly LPCs improperly labelled MCs. The cumulative incidence of catheter-related bloodstream infections was 0.3 and 0.4/1000 catheter-days, that of symptomatic catheter-related thrombosis was 0.9 and 1.8/1000 catheter-days for MCs and LPCs, respectively. Minor complications and catheter failure were higher for LPCs.
CONCLUSIONS
A misclassification exists in the labelling of MCs and LPCs. A widespread heterogeneity of diagnostic criteria adopted to classify the catheters' outcomes was found, exposing the risk of misestimating the incidence of complications and undermining the possibility of effectively comparing results of the published research. We proposed a list of definitions and relevant variables as a first step toward the development of standardized criteria to be adopted for research purposes.
Topics: Adult; Humans; Catheters; Thrombosis; Data Collection; Incidence; Catheterization, Peripheral; Catheters, Indwelling; Catheterization, Central Venous
PubMed: 38422981
DOI: 10.1016/j.thromres.2024.02.022 -
Maternal and Child Health Journal Sep 2023Patient-reported outcomes and experiences (PRO) data are an integral component of health care quality measurement and PROs are now being collected by many healthcare...
PURPOSE
Patient-reported outcomes and experiences (PRO) data are an integral component of health care quality measurement and PROs are now being collected by many healthcare systems. However, hospital organizational capacity-building for the collection and sharing of PROs is a complex process. We sought to identify the factors that facilitated capacity-building for PRO data collection in a nascent quality improvement learning collaborative of 16 hospitals that has the goal of improving the childbirth experience.
DESCRIPTION
We used standard qualitative case study methodologies based on a conceptual framework that hypothesizes that adequate organizational incentives and capacities allow successful achievement of project milestones in a collaborative setting. The 4 project milestones considered in this study were: (1) Agreements; (2) System Design; (3) System Development and Operations; and (4) Implementation. To evaluate the success of reaching each milestone, critical incidents were logged and tracked to determine the capacities and incentives needed to resolve them.
ASSESSMENT
The pace of the implementation of PRO data collection through the 4 milestones was uneven across hospitals and largely dependent on limited hospital capacities in the following 8 dimensions: (1) Incentives; (2) Leadership; (3) Policies; (4) Operating systems; (5) Information technology; (6) Legal aspects; (7) Cross-hospital collaboration; and (8) Patient engagement. From this case study, a trajectory for capacity-building in each dimension is discussed.
CONCLUSION
The implementation of PRO data collection in a quality improvement learning collaborative was dependent on multiple organizational capacities for the achievement of project milestones.
Topics: Humans; Capacity Building; Hospitals; Quality of Health Care; Delivery of Health Care; Patient Reported Outcome Measures
PubMed: 37347378
DOI: 10.1007/s10995-023-03720-6 -
Orphanet Journal of Rare Diseases May 2024Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and... (Review)
Review
BACKGROUND
Rare disease registries (RDRs) are valuable tools for improving clinical care and advancing research. However, they often vary qualitatively, structurally, and operationally in ways that can determine their potential utility as a source of evidence to support decision-making regarding the approval and funding of new treatments for rare diseases.
OBJECTIVES
The goal of this research project was to review the literature on rare disease registries and identify best practices to improve the quality of RDRs.
METHODS
In this scoping review, we searched MEDLINE and EMBASE as well as the websites of regulatory bodies and health technology assessment agencies from 2010 to April 2023 for literature offering guidance or recommendations to ensure, improve, or maintain quality RDRs.
RESULTS
The search yielded 1,175 unique references, of which 64 met the inclusion criteria. The characteristics of RDRs deemed to be relevant to their quality align with three main domains and several sub-domains considered to be best practices for quality RDRs: (1) governance (registry purpose and description; governance structure; stakeholder engagement; sustainability; ethics/legal/privacy; data governance; documentation; and training and support); (2) data (standardized disease classification; common data elements; data dictionary; data collection; data quality and assurance; and data analysis and reporting); and (3) information technology (IT) infrastructure (physical and virtual infrastructure; and software infrastructure guided by FAIR principles (Findability; Accessibility; Interoperability; and Reusability).
CONCLUSIONS
Although RDRs face numerous challenges due to their small and dispersed populations, RDRs can generate quality data to support healthcare decision-making through the use of standards and principles on strong governance, quality data practices, and IT infrastructure.
Topics: Humans; Rare Diseases; Registries
PubMed: 38711103
DOI: 10.1186/s13023-024-03193-y -
Ciencia & Saude Coletiva Nov 2023This article aims to assess the community food environment around areas with and without Food and Nutrition Public Establishments (FNPE). Cross-sectional study carried...
This article aims to assess the community food environment around areas with and without Food and Nutrition Public Establishments (FNPE). Cross-sectional study carried out in Belo Horizonte, Brazil. The unit of analysis was the buffer (500m) around the FNPE and the census tracts without FNPE. The investigated establishments should market food for consumption at home and be located within the buffer of the areas with and without FNPE. Data collection performed by direct observation (active search) in August to October 2019. Data collected were location and type of commercial establishments, the density of the establishments was calculated. Descriptive analysis, spatial distribution (Kernel estimator) and Nearest Neighbor analysis were performed. Of the evaluated establishments, 60.5% were in the areas without FNPE and 39.6% in the areas with FNPE, showing a random distribution pattern. Of these, 24.2% were convenience stores and bakeries, 21.0% butcher stores, and 19.0% street markets. Seven FNPE were close to commercial establishments. There were fewer establishments around the FNPE, with convenience stores and bakeries predominating.
Topics: Humans; Cross-Sectional Studies; Food; Nutritional Status; Environment; Data Collection; Residence Characteristics; Food Supply; Commerce
PubMed: 37971013
DOI: 10.1590/1413-812320232811.17002022