Erratum: Sociome Data Commons: A scalable and sustainable platform for investigating the full social context and determinants of health - ERRATUM.

[This corrects the article DOI: 10.1017/cts.2023.670.].

Patient Experiences and Challenges in the Management of Autoinflammatory Diseases-Data from the International FMF & AID Global Association Survey.

BACKGROUND: Autoinflammatory diseases (AIDs) are rare, mostly genetic diseases that affect the innate immune system and are associated with inflammatory symptoms. Both paediatric and adult patients face daily challenges related to their disease, diagnosis and subsequent treatment. For this reason, a survey was developed in collaboration between the FMF & AID Global Association and the Erlangen Center for Periodic Systemic Autoinflammatory Diseases. METHODS: The aim of the survey was to collect the personal assessment of affected patients with regard to their current status in terms of diagnostic timeframes, the interpretation of genetic tests, the number of misdiagnoses, and pain and fatigue despite treatment. RESULTS: In total, data from 1043 AID patients (829 adults and 214 children/adolescents) from 52 countries were collected and analyzed. Familial Mediterranean fever (FMF) (521/50%) and Behçet's disease (311/30%) were the most frequently reported diseases. The average time to diagnosis was 3 years for children/adolescents and 14 years for adults. Prior to the diagnosis of autoinflammatory disease, patients received several misdiagnoses, including psychosomatic disorders. The vast majority of patients reported that genetic testing was available (92%), but only 69% were tested. A total of 217 patients reported that no increase in acute-phase reactants was detected during their disease episodes. The intensity of pain and fatigue was measured in AID patients and found to be high. A total of 88% of respondents received treatment again, while 8% reported no treatment. CONCLUSIONS: AID patients, particularly adults, suffer from significant delays in diagnosis, misdiagnosis, and a variety of symptoms, including pain and fatigue. Based on the results presented, raising awareness of these diseases in the wider medical community is crucial to improving patient care and quality of life.

Using A Standardized Nomenclature to Semantically Map Oncology-Related Concepts from Common Data Models to a Pediatric Cancer Data Model.

The Pediatric Cancer Data Commons (PCDC) comprises an international community whose ironclad commitment to data sharing is combatting pediatric cancer in an unprecedented way. The byproduct of their data sharing efforts is a gold-standard consensus data model covering many types of pediatric cancer. This article describes an effort to utilize SSSOM, an emerging specification for semantically-rich data mappings, to provide a "hub and spoke" model of mappings from several common data models (CDMs) to the PCDC data model. This provides important contributions to the research community, including: 1) a clear view of the current coverage of these CDMs in the domain of pediatric oncology, and 2) a demonstration of creating standardized mappings. These mappings can allow downstream crosswalk for data transformation and enhance data sharing. This can guide those who currently create and maintain brittle ad hoc data mappings in order to utilize the growing volume of viable research data.

Sociome Data Commons: A scalable and sustainable platform for investigating the full social context and determinants of health.

Background/Objective: Non-clinical aspects of life, such as social, environmental, behavioral, psychological, and economic factors, what we call the sociome, play significant roles in shaping patient health and health outcomes. This paper introduces the Sociome Data Commons (SDC), a new research platform that enables large-scale data analysis for investigating such factors. Methods: This platform focuses on "hyper-local" data, i.e., at the neighborhood or point level, a geospatial scale of data not adequately considered in existing tools and projects. We enumerate key insights gained regarding data quality standards, data governance, and organizational structure for long-term project sustainability. A pilot use case investigating sociome factors associated with asthma exacerbations in children residing on the South Side of Chicago used machine learning and six SDC datasets. Results: The pilot use case reveals one dominant spatial cluster for asthma exacerbations and important roles of housing conditions and cost, proximity to Superfund pollution sites, urban flooding, violent crime, lack of insurance, and a poverty index. Conclusion: The SDC has been purposefully designed to support and encourage extension of the platform into new data sets as well as the continued development, refinement, and adoption of standards for dataset quality, dataset inclusion, metadata annotation, and data access/governance. The asthma pilot has served as the first driver use case and demonstrates promise for future investigation into the sociome and clinical outcomes. Additional projects will be selected, in part for their ability to exercise and grow the capacity of the SDC to meet its ambitious goals.

Diabetes Mellitus Is Associated With Poor In-Hospital and Long-Term Outcomes in Young and Midlife Stroke Survivors.

Background The incidence of ischemic stroke has increased among adults aged 18 to 64 years, yet little is known about relationships between specific risk factors and outcomes. This study investigates in-hospital and long-term outcomes in patients with stroke aged <65 years with preexisting diabetes mellitus. Methods and Results Consecutive patients aged <65 years admitted to comprehensive stroke centers for acute ischemic stroke between 2003 and 2013 were identified from the Ontario Stroke Registry. Multinomial logistic regression was used to estimate adjusted odds ratio (OR [95% CI]) of in-hospital mortality or direct discharge to long-term or continuing care. Cox proportional hazards regression was used to estimate the adjusted hazards ratio (aHR [95% CI]) of long-term mortality, readmission for stroke/transient ischemic attack, admission to long-term care, and incident dementia. Predefined sensitivity analyses examined stroke outcomes among young (aged 18-49 years) and midlife (aged 50-65 years) subgroups. Among 8293 stroke survivors (mean age, 53.6±8.9 years), preexisting diabetes mellitus was associated with a higher likelihood of in-hospital death (adjusted OR, 1.46 [95% CI, 1.14-1.87]) or direct discharge to long-term care (adjusted OR, 1.65 [95% CI, 1.07-2.54]). Among stroke survivors discharged (N=7847) and followed up over a median of 6.3 years, preexisting diabetes mellitus was associated with increased hazards of death (aHR, 1.68 [95% CI, 1.50-1.88]), admission to long-term care (aHR, 1.57 [95% CI, 1.35-1.82]), readmission for stroke/transient ischemic attack (aHR, 1.37 [95% CI, 0.21-1.54]), and incident dementia (aHR, 1.44 [95% CI, 1.17-1.77]). Only incident dementia was not increased for young stroke survivors. Conclusions Focused secondary prevention and risk factor management may be needed to address poor long-term outcomes for patients with stroke aged <65 years with preexisting diabetes mellitus.

Cerebrovascular assessments to help understand brain-related changes associated with aerobic exercise after stroke.

Evidence suggests exercise is "good medicine" after stroke, yet consensus is lacking on the time to initiate, type, exertion level, and duration per session. It remains a challenge to identify outcome measures for stroke-exercise trials that are sufficiently sensitive to intervention parameters. Cerebrovascular assessments, namely cerebral blood flow and intracranial pulsatility, are herein discussed as examples of quantitative brain-specific measures that may be useful to monitor exercise-related brain changes and help to guide stroke rehabilitation interventions. Novelty: Cerebral blood flow and arterial stiffness are potential vascular targets for stroke exercise trials.

The RightSTEPS initiative: Continuing education impact on clinicians' optimal medical therapy practices for chronic heart failure.

PURPOSE: Despite the existence of expert recommendations that can improve morbidity and mortality, reduce the need for hospitalization or readmission, and enhance quality of life in patients with heart failure (HF), many patients do not receive optimal medical therapy (OMT). The goal of this initiative, titled RightSTEPS, was to help physicians take the right steps to apply-evidence-based HF management strategies in clinical practice. METHODS: Using the PRECEDE-PROCEED Model aimed at improving the clinical behavior of the learner, the instructional design featured 23 online and live face-to-face activities offering up to 16 credit hours of CME/CNE credit. These activities were delivered sequentially in three phases: predisposing, enabling and reinforcing. The lessons provided concise, pragmatic, stepwise management strategies aimed at empowering clinicians to prescribe evidence-based, guideline-directed OMT for patients with HF. RESULTS: The predisposing and reinforcing online activities within the initiative reached a total of 71,510 learners with 23,902 successfully completed activities and post-tests; the enabling face-to-face activities reached a total audience of 763 clinicians. This initiative resulted in a statistically significant (p < 0.0001) increase in knowledge and competence related to HF OMT among the clinician learners. Furthermore, follow-up surveys indicated a commitment from learners to implement these guideline-directed strategies in their clinical practice. CONCLUSIONS: This initiative demonstrated that the design of the RightSTEPS curriculum, using the Precede-Proceed model with sequentially-delivered, blended learning, provides a methodological framework to help learners translate knowledge into improvements in clinical behavior with the potential to improve patient health outcomes.

Lower Thalamic Blood Flow Is Associated With Slower Stride Velocity in Older Adults.

BACKGROUND: Gait deficits are associated with brain atrophy and white matter hyperintensities (WMH) - both markers of underlying cerebral small vessel disease (SVD). Given reduced subcortical cerebral blood flow (CBF) is prevalent in SVD, we tested the hypothesis that regional CBF is positively associated with gait performance among older adults. METHODS: Thirty-two older adults (55-80 years) with at least one vascular risk factor were recruited. We assessed gait during 2 consecutive walking sequences using a GAITRite system: (1) at a self-selected pace, and (2) while performing a serial subtraction dual-task challenge. We quantified CBF using pseudo-continuous arterial spin labeling MRI within 4 regions of interest: putamen, pallidum, thalamus, and hippocampus. We investigated associations between gait characteristics and overall CBF adjusting for age, sex, and height in an omnibus approach using multivariate analysis of variance, followed by regression analysis with each individual region. We also conducted further regression analyses to investigate associations between gait characteristics and frontal lobe CBF. Sensitivity analyses examined how the observed associations were modified by WMH, executive function, and depressive symptoms. A change of 10% in the model's adjusted r2 and effect size was considered as a threshold for confounding. RESULTS: Overall subcortical CBF was not associated with self-paced gait. When examining individual ROI, gait velocity was directly related to thalamic CBF (p = 0.026), and across all gait variables the largest effect sizes were observed in relation to thalamic CBF. In the dual-task condition, gait variables were not related to CBF in either the omnibus approach or individual multiple regressions. Furthermore, no significant associations were observed between frontal CBF and gait variables in either the self-paced or dual-task condition. Sensitivity analyses which were restricted to examine the association of velocity and thalamic CBF identified a cofounding effect of depressive symptoms which increased the effect size of the CBF-gait association by 12%. CONCLUSION: Subcortical hypoperfusion, particularly in regions that comprise central input/output tracts to the cortical tissue, may underlie the association between gait deficits and brain aging.

Extended glycan diversity in a bacterial protein glycosylation system linked to allelic polymorphisms and minimal genetic alterations in a glycosyltransferase gene.

Glycans manifest in conjunction with the broad spectrum O-linked protein glycosylation in species within the genus Neisseria display intra- and interstrain diversity. Variability in glycan structure and antigenicity are attributable to differences in the content and expression status of glycan synthesis genes. Given the high degree of standing allelic polymorphisms in these genes, the level of glycan diversity may exceed that currently defined. Here, we identify unique protein-associated disaccharide glycoforms that carry N-acetylglucosamine (GlcNAc) at their non-reducing end. This altered structure was correlated with allelic variants of pglH whose product was previously demonstrated to be responsible for the expression of glucose (Glc)-containing disaccharides. Allele comparisons and site-specific mutagenesis showed that the presence of a single residue, alanine at position 303 in place of a glutamine, was sufficient for GlcNAc versus Glc incorporation. Phylogenetic analyses revealed that GlcNAc-containing disaccharides may be widely distributed within the pgl systems of Neisseria particularly in strains of N. meningitidis. Although analogous minimal structural alterations in glycosyltransferases have been documented in association with lipopolysaccharide and capsular polysaccharide variability, this appears to be the first example in which such changes have been implicated in glycan diversification within a bacterial protein glycosylation system.

ARHP's Annual Reproductive Health Clinical Conference: a laboratory for innovative provider education that can lead to real practice change.

For reproductive health professionals, a combination of clinical and social science, presented in a variety of credible, interactive formats and featuring some type of mentoring and longer-term evaluation and follow-up, provides the richest platform for learning. There is growing support in the literature for this approach to improve clinician knowledge, competence and practice. ARHP is incorporating new educational platforms for all of its programs, including the annual Reproductive Health Clinical Conference. ARHP leaders plan to continue in-depth evaluation and experimentation to work toward improved provider performance and the best possible patient outcomes. There is a strong need for more research to inform this promising area, but we are on the right track.

Medical-legal partnership: collaborating with lawyers to identify and address health disparities.

INTRODUCTION: Medical-legal partnerships (MLPs) bring together medical professionals and lawyers to address social causes of health disparities, including access to adequate food, housing and income. SETTING: Eighty-one MLPs offer legal services for patients whose basic needs are not being met. PROGRAM DESCRIPTION: Besides providing legal help to patients and working on policy advocacy, MLPs educate residents (29 residency programs), health care providers (160 clinics and hospitals) and medical students (25 medical schools) about how social conditions affect health and screening for unmet basic needs, and how these needs can often be impacted by enforcing federal and state laws. These curricula include medical school courses, noon conferences, advocacy electives and CME courses. PROGRAM EVALUATION: Four example programs are described in this paper. Established MLPs have changed knowledge (MLP | Boston-97% reported screening for two unmet needs), attitudes (Stanford reported reduced concern about making patients "nervous" with legal questions from 38% to 21%) and behavior (NY LegalHealth reported increasing resident referrals from 15% to 54%) after trainings. One developing MLP found doctors experienced difficulty addressing social issues (NJ LAMP-67% of residents felt uncomfortable). DISCUSSION: MLPs train residents, students and other health care providers to tackle socially caused health disparities.

Integration of self-management tools in personal and provider e-health records.

Development and evaluation of research-quality informatics tools for self-management support in personal and provider electronic health records (PHRs and EHRs) may improve patient outcomes by facilitating patient and provider education and communication around goal-setting, prompting consistent evidence-based treatment, and providing reminders and feedback. Nurses on primary care teams are well-positioned to advocate for self-management and monitor the use of these informatics tools. This paper presents a design for integrating goal-setting tools into PHRs and EHRs. Keeping in mind the potential of enhanced self-management support, challenges in basic issues such as user characteristics, practice traditions of data ownership and workflow, and financing are discussed.

Medical-legal partnerships: addressing competency needs through lawyers.

BACKGROUND: Many low- and moderate-income individuals and families have at least one unmet legal need (for example, unsafe housing conditions, lack of access to food and/or income support, lack of access to health care), which, if left unaddressed, can have harmful consequences on health. Eighty unique medical-legal partnership programs, serving over 180 clinics and hospitals nationwide, seek to combine the strengths of medical and legal professionals to address patients' legal needs before they become crises. Each partnership is adapted to serve the specific needs of its own patient base. INTERVENTION: This article describes innovative, residency-based medical-legal partnership educational experiences in pediatrics, internal medicine, and family medicine at 3 different sites (Boston, Massachusetts; Newark, New Jersey; and Tucson, Arizona). This article addresses how these 3 programs have been designed to meet the Accreditation Council for Graduate Medical Education's 6 competencies, along with suggested methods for evaluating the effectiveness of these programs. Training is a core component of medical-legal partnership, and most medical-legal partnerships have developed curricula for resident education in a variety of formats, including noon conferences, grand rounds, poverty simulations and day-long special sessions. DISCUSSION: Medical-legal partnerships combine the skill sets of medical professionals and lawyers to teach social determinants of health by training residents and attending physicians to identify and help address unmet legal needs. Medical-legal partnership doctors and lawyers treat health disparities and improve patient health and well-being by ensuring that public programs, regulations, and laws created to benefit health and improve access to health care are implemented and enforced.