scholarly journals The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Follow-Up Efforts

2021 ◽  
Author(s):  
Amy Brower ◽  
Kee Chan ◽  
Michael Hartnett ◽  
Jennifer Taylor
Keyword(s):  
Newborn Screening ◽  
Health Information ◽  
Clinical Care ◽  
Genetic Diseases ◽  
Data Gathering ◽  
Research Network ◽  
Phenotypic Data ◽  
Common Data Elements ◽  
Data Resource ◽  
The Impact

The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease, and to assess the impact of early identification and treatment. NBSTRN developed a consensus-based process using clinical care experts to create, maintain, and evolve question and answer sets organized into common data elements (CDEs). The LPDR contains 24,172 core and disease-specific CDEs for 118 rare genetic diseases, and the CDEs are being made available through the NIH CDE Repository. The number of CDEs for each condition average of 2,200 with a range from 69 to 7,944. The LPDR is used by state NBS programs, clinical researchers, and community-based organizations. Case level, de-identified data sets are available for secondary research and data mining. The development of the LPDR for longitudinal data gathering, sharing, and analysis supports research and facilitates the translation of new discoveries into clinical practice.

Health Care Information Systems and the Risk of Privacy Issues for the Disabled

Cyber Crime ◽  
2013 ◽  
pp. 870-890
Author(s):  
John Beswetherick
Keyword(s):  
Health Information ◽  
Clinical Care ◽  
Health Care Information ◽  
Privacy And Security ◽  
Increased Risk ◽  
Health Care Information Systems ◽  
The Disabled ◽  
Care Information ◽  
The Impact ◽  
And Storage

The healthcare industry is moving towards adoption of electronic health records. There are associated privacy and security implications to this move towards electronic collection and storage of sensitive health information. This chapter suggests that the impact on the privacy and security of health information for disabled individuals is greater than that for the general populace. Contributors to this increased risk are related to the increase in dependence on the clinical care system and the related increase in volume of the data that is collected, stored and exchanged as a function of providing care to this population.

Health Care Information Systems and the Risk of Privacy Issues for the Disabled

2011 ◽  
pp. 22-42
Author(s):  
John Beswetherick
Keyword(s):  
Health Information ◽  
Clinical Care ◽  
Health Care Information ◽  
Privacy And Security ◽  
Increased Risk ◽  
Health Care Information Systems ◽  
The Disabled ◽  
Care Information ◽  
The Impact ◽  
And Storage

The healthcare industry is moving towards adoption of electronic health records. There are associated privacy and security implications to this move towards electronic collection and storage of sensitive health information. This chapter suggests that the impact on the privacy and security of health information for disabled individuals is greater than that for the general populace. Contributors to this increased risk are related to the increase in dependence on the clinical care system and the related increase in volume of the data that is collected, stored and exchanged as a function of providing care to this population.

Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen

2020 ◽  
Vol 105 (4) ◽  
pp. e1561-e1568
Author(s):  
Erica L Wright ◽  
Peter R Baker
Keyword(s):  
Amino Acids ◽  
Newborn Screening ◽  
False Positive ◽  
Maternal Obesity ◽  
Propionic Acidemia ◽  
Phenotypic Data ◽  
Obesity And Diabetes ◽  
Newborn Screen ◽  
The Impact ◽  
Positive Results

Abstract Purpose Neonatal macrosomia is a known complication of maternal obesity and gestational diabetes, and it is a risk factor for obesity and diabetes in offspring. Amino acids and acylcarnitines are biomarkers for obesity in children and adults. These analytes, which are also routinely obtained on the newborn screen, have not been well-characterized in macrosomic newborns. The impact of macrosomia on rates of false-positive results in the newborn screen has also not been well-studied. We test the hypothesis that macrosomia is an interfering factor for amino acids and/or acylcarnitines on the newborn screen. Methods Newborn screening analytes determined by tandem mass spectroscopy were obtained from the Colorado Department of Public Health and Environment archives (2016–2018). This included metabolite concentrations obtained at 24–72 hours of life from newborns with birth weight 2500 to 3999 g (nonmacrosomic, n = 131 896) versus 4000 to 8000 g (macrosomic, n = 7806). Mother/infant phenotypic data were limited to information provided on the newborn screening dried blood spot card. Data were analyzed using Student t-test and chi-squared analysis. Results Macrosomic newborns had elevations in C2, C3, dicarboxylic, and long-chain acylcarnitines (specifically C16 and C18 species). C3 and C18:1 were 2 to 3 times more likely to be above predetermined state cutoffs in macrosomic versus nonmacrosomic newborns (both male and female). Main conclusions Macrosomia is an interfering factor for the analytes C3 and C18:1, leading to higher risk of false-positive results for methylmalonic/propionic acidemia and carnitine palmitoyl transferase type 2 deficiency, respectively. Analyte patterns found in macrosomic neonates correspond with similar analyte patterns in obese children and adults.

scholarly journals Disease monitoring of biologic treatment in IBD: early impact and future implications of COVID-19 pandemic

2020 ◽  
pp. flgastro-2020-101563
Author(s):  
Stephanie Shields ◽  
Allan Dunlop ◽  
John Paul Seenan ◽  
Jonathan Macdonald
Keyword(s):  
Clinical Care ◽  
Chronic Illnesses ◽  
Therapeutic Drug ◽  
Disease Monitoring ◽  
Biologic Treatment ◽  
Faecal Calprotectin ◽  
Routine Clinical Care ◽  
Risk Of Disease ◽  
Inflammatory Bowel ◽  
The Impact

COVID-19 has dominated life in 2020 with, at the time of writing, over 4.9M global cases and >320 000 deaths. The impact has been most intensely felt in acute and critical care environments. However, with most UK elective work postponed, laboratory testing of faecal calprotectin halted due to potential risk of viral transmission and non-emergency endoscopies and surgeries cancelled, the secondary impact on chronic illnesses such as inflammatory bowel disease (IBD) is becoming apparent. Data from the Scottish Biologic Therapeutic Drug Monitoring (TDM) service shows a dramatic drop in TDM testing since the pandemic onset. April 2020 saw a 75.6% reduction in adalimumab testing and a 36.2% reduction in infliximab testing when compared with February 2020 data, a reduction coinciding with the widespread cancellation of outpatient and elective activity. It is feared that disruption to normal patterns of care and disease monitoring of biologic patients could increase the risk of disease flare and adverse clinical outcomes. Urgent changes in clinical practice have been instigated to mitigate the effects of the pandemic on routine clinical care. Further transformations are needed to maintain safe, effective, patient-centred IBD care in the future.

scholarly journals Droperidol dropped; consultants not consulted

2003 ◽  
Vol 27 (08) ◽  
pp. 301-304
Author(s):  
Gavin Reid ◽  
Mark Hughson
Keyword(s):  
Questionnaire Survey ◽  
Clinical Care ◽  
Postal Questionnaire ◽  
Clinical Implications ◽  
The West ◽  
Abrupt Withdrawal ◽  
Before And After ◽  
Adequate Evaluation ◽  
Psychiatric Profession ◽  
The Impact

Aims and Method We conducted a postal questionnaire survey of the practice of rapid tranquillisation among 215 consultant psychiatrists in the West of Scotland, before and after the withdrawal of droperidol by the manufacturer. Results One hundred and eighty questionnaires (84% of those sent) were returned. Droperidol had been used extensively, often combined with lorazepam, for rapid tranquillisation. The main replacement suggested for droperidol was haloperidol. About half of the respondents to our survey chose to comment on the withdrawal of droperidol. More than half of the comments were unfavourable, including lack of an adequate replacement and lack of consultation with the psychiatric profession. Clinical Implications The abrupt withdrawal of droperidol, partly for commercial reasons, was regrettable. There was no time for an adequate evaluation of possible replacement medications and a lack of consultation with the profession regarding the impact on clinical care.

scholarly journals Mental health professional perspectives on health data sharing: Mixed methods study

2020 ◽  
Vol 26 (3) ◽  
pp. 2067-2082 ◽  
Author(s):  
Adela Grando ◽  
Julia Ivanova ◽  
Megan Hiestand ◽  
Hiral Soni ◽  
Anita Murcko ◽  
...  
Keyword(s):  
Health Information ◽  
Data Sharing ◽  
Health Professionals ◽  
Mixed Methods Study ◽  
Qualitative And Quantitative Analysis ◽  
Qualitative And Quantitative ◽  
Patient Comprehension ◽  
Professional Perspectives ◽  
The Impact ◽  
Perceived Reasons

This study explores behavioral health professionals’ perceptions of granular data. Semi-structured in-person interviews of 20 health professionals were conducted at two different sites. Qualitative and quantitative analysis was performed. While most health professionals agreed that patients should control who accesses their personal medical record (70%), there are certain types of health information that should never be restricted (65%). Emergent themes, including perceived reasons that patients might share or withhold certain types of health information (65%), care coordination (12%), patient comprehension (11%), stigma (5%), trust (3%), sociocultural understanding (3%), and dissatisfaction with consent processes (1%), are explored. The impact of care role (prescriber or non-prescriber) on data-sharing perception is explored as well. This study informs the discussion on developing technology that helps balance provider and patient data-sharing and access needs.

Can prism adaptation effects generalize to wheelchair maneuvering?

2021 ◽  
pp. 1-10
Author(s):  
Lindsay E. Wyatt ◽  
Anne Sophie Champod ◽  
Gabrielle M. Haidar ◽  
Gail A. Eskes
Keyword(s):  
Standard Treatment ◽  
Clinical Care ◽  
Prism Adaptation ◽  
Spatial Neglect ◽  
Hand Position ◽  
Everyday Activity ◽  
After Effects ◽  
Everyday Activities ◽  
Promising Tool ◽  
The Impact

BACKGROUND: While prism adaptation (PA) has been recognized as a promising tool for treating spatial neglect, implementation as a standard treatment in clinical care has been lagging. Limited evidence for the generalization of after-effects to everyday activities has been a barrier towards implementation. OBJECTIVES: This study examined whether a home-friendly standardized PA protocol (Peg-the-Mole, PTM) induces after-effects that can transfer to wheelchair maneuvering. We also examined the impact of using constant (1 starting hand position) or variable (3 starting hand positions) training conditions on the transfer of after-effects to wheelchair maneuvering. METHODS: Sixty participants were randomly assigned to one of four PTM conditions: 1) prisms/constant training; 2) prisms/variable training; 3) sham goggles/constant training; 4) sham goggles/variable training. RESULTS: The use of PTM with rightward shifting prisms induced after-effects on proprioceptive and visual pointing outcome tasks. Groups using PTM with prism goggles showed a leftward shift in their position within a wheelchair course and a reduction in the number of right-sided collisions. The training condition did not have an impact on the transfer of after-effects to wheelchair driving. CONCLUSION: PTM is a clinically appealing PA protocol that induces after-effects that can transfer to an everyday activity relevant to patients with neglect.

scholarly journals OP0151-PARE WORK IMPACTS EXPERIENCED BY YOUNGER PEOPLE WITH ARTHRITIS: A SYSTEMATIC REVIEW

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 95.1-96
Author(s):  
D. Berkovic ◽  
C. Parker ◽  
D. Ayton ◽  
A. M. Briggs ◽  
I. Ackerman
Keyword(s):  
Quality Assessment ◽  
Clinical Care ◽  
Work Participation ◽  
Work Outcomes ◽  
Healthy Population ◽  
Younger Adults ◽  
Horizon 2020 ◽  
Workplace Support ◽  
Workplace Challenges ◽  
The Impact

Background:On a global scale, it is estimated that adults in their peak income-earning years are disproportionately impacted by arthritis (1). Younger adults with arthritis are less likely to be employed and are more likely to face productivity challenges at work when compared to healthy similar-aged peers (2). The work-related impacts of arthritis on younger adults remain largely unexplored and are rarely considered in routine clinical care for arthritis.Objectives:To systematically identify, appraise and synthesise the available evidence on work impacts experienced by individuals aged 16-50 years with arthritis.Methods:Eligible studies from 2000 - 2020 were identified in OVID Medline, PsycINFO, Embase, and CINAHL databases using a comprehensive search strategy. Quantitative and qualitative studies containing self-reported data on the work impacts of arthritis on younger people were included. Quality assessment was undertaken using validated quality appraisal tools (3).Results:From a yield of 300 studies, 35 were included in the review. After quality assessment and exclusion of the lowest-ranked studies, 28 studies (17 quantitative, 11 qualitative) were analysed. Work outcomes data were organised into five themes (1-3 for quantitative outcomes, 4-5 for qualitative outcomes): (1) the impacts of arthritis on work productivity; (2) the impacts of arthritis on work participation; (3) other arthritis attributable workplace challenges; (4) barriers to work participation associated with arthritis, and (5) enablers to work participation associated with arthritis. For quantitative themes, arthritis was strongly associated with other workplace challenges: scores on the Workplace Activity Limitations Scale ranged from 5.9 (moderate workplace difficulty) to 9.8 (considerable workplace difficulty); and work disability relative to the healthy population (prevalence ranging from 6% - 80%). For qualitative themes, barriers to work participation included lack of workplace support; enablers included workplace support and intrinsic motivation to work.Conclusion:Arthritis is associated with poorer work outcomes for younger people relative to healthy peers. The available evidence was heterogeneous across studies. Additional research focusing solely on the unique workplace needs of younger population groups is required. This would inform the development of tailored intervention or workplace support strategies to maximise productive working years.References:[1]European League Against Rheumatism. Horizon 2020 Framework Programme: EULAR’s positions and recommendations. EULAR 2011.[2]Jetha A. (2015). The impact of arthritis on the early employment experiences of young adults: A literature review. Disabil Health J. 8(3) 317-324.[3]Joanna Briggs Institute. Critical Appraisal Tools. The University of Adelaide 2019.Disclosure of Interests:None declared

scholarly journals OP0277-PARE METABERN, THE EUROPEAN REFERENCE NETWORK FOR RARE HEREDITARY DISEASES: STRUCTURE, OBJECTIVES, METABOLIC RMDS AND THE ROLES OF EUROPEAN PATIENT ADVOCACY GROUPS (EPAGS)

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 168.2-168
Author(s):  
L. Wagner ◽  
S. Sestini ◽  
C. Brown ◽  
A. Finglas ◽  
R. Francisco ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Health Care ◽  
Social Science ◽  
Metabolic Pathways ◽  
Metabolic Disorders ◽  
Clinical Care ◽  
Single Point ◽  
Link Type ◽  
The Impact

Background:Inborn metabolic disorders (IMDs) currently encompass more than 1,500 diseases with new ones still to be identified1. Each of them is characterised by a genetic defect affecting a metabolic pathway. Only few of them have curative treatments, that target the respective metabolic pathway. Commonly, treatment examples include diet, substrate reduction therapies, enzyme replacement therapies, gene therapy and biologicals, enabling IMD-patient now to survive to adulthood. About 30 % of all IMDs involve the musculoskeletal system and are here referred to as rare metabolic RMDs. Generally, IMDs are very heterogenous with respect to symptoms and severity, often being systemic and affecting more children than adults. Thus, challenges include certified advanced training of adult metabolic experts, standardised transition plans, social support and development of therapies for diseases that do not have any cure yet.Objectives:Introduction of MetabERN, its structure and objectives, highlighting on the unique features and challenges of metabolic RMDs and describing the involvement of patient representation in MetabERN.Methods:MetabERN is stratified in 7 subnetworks (SNW) according to the respective metabolic pathways and 9 work packages (WP), including administration, dissemination, guidelines, virtual counselling framework, research/clinical trials, continuity of care, education and patient involvement. The patient board involves a steering committee and single point of contacts for each subnetwork and work package, respectively2. Projects include identifying the need of implementing social science to assess the psycho-socio-economic burden of IMDs, webinars on IMDs and their transition as well as surveys on the impact of COVID-193 on IMD-patients and health care providers (HCPs), social assistance for IMD-patients and analysing the transition landscape within Europe.Results:The MetabERN structure enables bundling of expertise, capacity building and knowledge transfer for faster diagnosis and better health care. Rare metabolic RMDs are present in all SNWs that require unique treatments according to their metabolic pathways. Implementation of social science to assess the psycho-socio-economic burden of IMDs is still underused. Involvement of patient representatives is essential for a holistic healthcare not only focusing on clinical care, but also on the quality of life for IMD-patients. Surveys identified unmet needs of patient care, patients having little information on national support systems and structural deficits of healthcare systems to ensure HCP can provide adequate clinical care during transition phases. These results are collected by MetabERN and forwarded to the Directorate-General for Health and Food Safety (DG SANTE) of the European Commission (EC) to be addressed further.Conclusion:MetabERN offers an infrastructure of virtual healthcare for patients with IMDs. Thus, in collaboration with ERN ReCONNET, MetabERN can assist in identifying rare metabolic disorders of RMDs to shorten the odyssey of diagnosis and advise on their respective therapies. On the other hand, MetabERN can benefit from EULAR’s longstanding experience regarding issues affecting the quality of life, all RMD patients are facing, such as pain, stiffness, fatigue, rehabilitation, maintaining work and disability claims.References:[1]IEMbase - Inborn Errors of Metabolism Knowledgebase http://www.iembase.org/ (accessed Jan 29, 2021).[2]MetabERN: European Refence Network for Hereditary Metabolic Disorders https://metab.ern-net.eu/ (accessed Jan 29, 2021).[3]Lampe, C.; Dionisi-Vici, C.; Bellettato, C. M.; Paneghetti, L.; van Lingen, C.; Bond, S.; Brown, C.; Finglas, A.; Francisco, R.; Sestini, S.; Heard, J. M.; Scarpa, M.; MetabERN collaboration group. The Impact of COVID-19 on Rare Metabolic Patients and Healthcare Providers: Results from Two MetabERN Surveys. Orphanet J. Rare Dis.2020, 15 (1), 341. https://doi.org/10.1186/s13023-020-01619-x.Acknowledgements:The authors thank the MetabERN collaboration group, the single point of contacts (SPOC) of the MetabERN patient board and the Transition Project Working Group (TPWG)Disclosure of Interests:None declared

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