A comprehensive systematic review of health-related quality of life measures in short stature paediatric patients.

This systematic review investigates Patient-reported Outcome Measures (PROMs) and Observed Reported Outcome Measures (ObsROMs) pertinent to assessing Health-Related Quality of Life (HRQoL) in short-stature paediatric patients, focusing on Achondroplasia (ACH), Growth Hormone Deficiency (GHD), Isolated Growth Hormone Deficiency (IGHD), and Small-for-Gestational-Age (SGA) diagnoses. Utilising rigorous selection criteria, 53 studies published from 1998 to 2023 were analysed, revealing a predominance of European-based research. Notably, the review elucidated the utilisation of disease-specific and generic HRQoL measures, showcasing the multifaceted nature of short-stature conditions and their impact across physical, emotional, and social domains. The Quality of Life in Short Stature Youth (QoLISSY), Paediatric Quality of Life Inventory (PedsQL), and KIDSCREEN emerged as frequently employed instruments, offering nuanced insights into HRQoL perceptions across diverse age demographics. Additionally, the review highlighted the adaptation of adult HRQoL measures for adolescent populations, signalling a need for age-appropriate assessment tools. Furthermore, integrating PROMs and ObsROMs in HRQoL assessment underscored a comprehensive approach, considering both subjective patient perspectives and observed outcomes. Future research directions encompass comprehensive search strategies, longitudinal studies with diverse populations, and the development of age-appropriate HRQoL assessment tools. In conclusion, this review emphasises the importance of comprehensive HRQoL assessment to address the diverse needs of short-stature paediatric patients effectively.

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.

Genetic disorders pose great challenges for affected individuals and their families, as they must cope with the irreversible nature of the disease and a life-long dependence on medical assistance and treatment. Children and adolescents dealing with Pompe disease (PD) often struggle to keep up with their peers in physical activities. To gain valuable insights into their subjective experiences and better understand their perception and coping related to daily challenges linked to their condition and treatment, the use of standardized questionnaires is crucial. This study introduces the novel PompeQoL 1.0 questionnaire for children and adolescents with PD, designed for comprehensive assessment of both disease-specific FDH and HRQoL through self- and proxy reports. Content validity was ensured through patients' and parents' involvement at the initial stages of development and in subsequent cognitive debriefing process. Participants found the questionnaire easy to understand, answerable, relevant, and comprehensive. Adjustments based on feedback from patients and their parents improved its utility as a patient- and observer-reported outcome measure. After careful item examination, 52 items were selected, demonstrating moderate to excellent test-retest reliability for most scales and initial evidence for satisfactory construct validity. The PompeQoL questionnaire stands as a valuable screening instrument for both clinical and research purposes. Future research should prioritize additional revisions and larger validation studies, focusing on testing the questionnaire in clinical practice and trials. Nevertheless, the PompeQoL 1.0 stands out as the first standardized measure providing insights into disease-specific FDH and HRQoL among children and adolescents with various forms of PD.

Estimates of late Early Cretaceous atmospheric CO2 from Mongolia based on stomatal and isotopic analysis of Pseudotorellia.

PREMISE: The Aptian-Albian (121.4-100.5 Ma) was a greenhouse period with global temperatures estimated as 10-15°C warmer than pre-industrial conditions, so it is surprising that the most reliable CO2 estimates from this time are <1400 ppm. This low CO2 during a warm period implies a very high Earth-system sensitivity in the range of 6 to 9°C per CO2 doubling between the Aptian-Albian and today. METHODS: We applied a well-vetted paleo-CO2 proxy based on leaf gas-exchange principles (Franks model) to two Pseudotorellia species from three stratigraphically similar samples at the Tevshiin Govi lignite mine in central Mongolia (~119.7-100.5 Ma). RESULTS: Our median estimated CO2 concentration from the three respective samples was 2132, 2405, and 2770 ppm. The primary reason for the high estimated CO2 but with relatively large uncertainties is the very low stomatal density in both species, where small variations propagate to large changes in estimated CO2. Indeed, we found that at least 15 leaves are required before the aggregate estimated CO2 approaches that of the full data set. CONCLUSIONS: Our three CO2 estimates all exceeded 2000 ppm, translating to an Earth-system sensitivity (~3-5°C/CO2 doubling) that is more in keeping with the current understanding of the long-term climate system. Because of our large sample size, the directly measured inputs did not contribute much to the overall uncertainty in estimated CO2; instead, the inferred inputs were responsible for most of the overall uncertainty and thus should be scrutinized for their value choices.

Proxy consultations for severe mental illnesses: An exploratory cross-sectional study from a tertiary care hospital.

BACKGROUND: Non-adherence to medication leading to a break in continuity of care poses significant challenges in severe mental illness (SMI), leading to poor outcomes. In India, proxy consultation, wherein caregivers consult on behalf of patients, is a commonly adopted but insufficiently researched area to address these challenges. AIMS: To explore the extent of proxy consultation in outpatient care of persons with SMI and investigate its sociodemographic and clinical correlates. METHODOLOGY: In a tertiary care psychiatry outpatient setting, we conducted a cross-sectional study involving 374 caregivers of persons with SMI (Schizophrenia, Bipolar and related disorders). Descriptive statistics and univariate logistic regression were performed to examine correlates' relationships with proxy consultation. RESULTS: Proxy consultation prevalence was 43% in the past 1 year. Compared with 18 to 30 years, middle-aged patients aged 31 to 40, 41 to 50 and 51 to 60 years had twofold, threefold and sixfold increased chances of proxy consultation, respectively. Being illiterate had six times higher odds than graduates, three times and two times if they studied till primary and secondary education. Early age of onset was associated with three times higher chances of proxy consultation compared to the onset of illness in adulthood. On the contrary, male gender and upper and middle socioeconomic status decreased the chances of proxy consultation by 40%. Financial difficulties (n = 72, 45%) and patients' unwillingness to visit outpatients (n = 44, 27.5%) were the most commonly cited reasons for proxy consultation. CONCLUSION: Proxy consultations are relatively common, driven by many social, economic, patient-related, pragmatic and practical factors. In formulating community care policies for persons with SMI, the primary imperative should be to conduct additional research, deepening our understanding of proxy consultations. Additionally, it is essential to be mindful of the diverse issues associated with proxy consultations during the formulation process.

Beyond overlap: Considering habitat preference and fitness outcomes in the umbrella species concept.

Umbrella species and other surrogate-species approaches to conservation provide an appealing framework to extend the reach of conservation efforts beyond single species. For the umbrella species concept to be effective, populations of multiple species of concern must persist in areas protected on behalf of the umbrella species. Most assessments of the concept, however, focus exclusively on geographic overlap among umbrella and background species, and not measures that affect population persistence (e.g., habitat quality or fitness). We quantified the congruence between the habitat preferences and nesting success of a high-profile umbrella species (greater sage-grouse, Centrocercus urophasianus, hereafter "sage-grouse"), and three sympatric species of declining songbirds (Brewer's sparrow Spizella breweri, sage thasher Oreoscoptes montanus, and vesper sparrow Pooecetes gramineus) in central Wyoming, USA during 2012 - 2013. We used machine-learning methods to create data-driven predictions of sage-grouse nest-site selection and nest survival probabilities by modeling field-collected sage-grouse data relative to habitat attributes. We then used field-collected songbird data to assess whether high-quality sites for songbirds aligned with those of sage-grouse. Nest sites selected by songbirds did not coincide with sage-grouse nesting preferences, with the exception that Brewer's sparrows preferred similar nest sites to sage-grouse in 2012. Moreover, the areas that produced higher rates of songbird nest survival were unrelated to those for sage-grouse. Our findings suggest that management actions at local scales that prioritize sage-grouse nesting habitat will not necessarily enhance the reproductive success of sagebrush-associated songbirds. Measures implemented to conserve sage-grouse and other purported umbrella species at broad spatial scales likely overlap the distribution of many species, however, broad-scale overlap may not translate to fine-scale conservation benefit beyond the umbrella species itself. The maintenance of microhabitat heterogeneity important for a diversity of species of concern will be critical for a more-holistic application of the umbrella species concept.

Drug-Induced Undifferentiated Connective Tissue Disease in a Two-Year-Old Girl: A Manifestation of Factitious Disorder Imposed on Another (FDIA).

Factitious disorder imposed on another (FDIA), formerly known as Munchausen syndrome by proxy (MSBP), constitutes a form of child abuse wherein a caregiver fabricates or induces illness in a person under their care or supervision. Here, we present a case of a two-year-old girl with signs and symptoms suggestive of undifferentiated connective tissue disease (UCTD) and probable autoinflammatory disease, which was a manifestation of FDIA. The patient manifested recurrent febrile episodes and presented with hepatosplenomegaly, elevated inflammatory markers, and mesangial proliferative glomerulonephritis. Regardless of extensive medical interventions, including corticosteroids and immunosuppressive therapy, the patient's condition failed to improve until the caregiver was isolated from the patient. Upon questioning, the caregiver admitted to having administered pyrogenal, an immunomodulator, to induce symptoms. This case highlights the challenges and difficulties of diagnosing and managing FDIA-associated illnesses, drawing attention to the importance of considering this diagnosis in cases of unexplained or recurrent fever in children.

Discrepancies between self- and proxy-rated quality of life in people living with dementia.

INTRODUCTION: The aim of this study was to analyze discrepancies between self- and proxy-rated health-related quality of life (HRQoL), measured with the EuroQol 5 Dimension 5 Level survey (EQ-5D-5L), in people living with dementia (PlwD) and their caregivers on an individual response level. METHODS: EQ-5D-5L, sociodemographic and clinical data were obtained from baseline data of n = 174 dyads of a cluster-randomized, controlled intervention trial. Self- and proxy-rated EQ-5D-5L health profiles were evaluated in terms of response distribution and agreement (weighted Kappa), and discrepancies in individual dimension level were analyzed using the Paretian Classification of Health Change (PCHC) as well as the presence and degree of inconsistencies between ratings. RESULTS: PlwD had a mean age of 80.1, nearly the half were female and 82.3% were mildly to moderately cognitively impaired. PlwD reported a higher utility index than caregiver proxies (mean 0.75 vs. 0.68, 83% of PlwD > 0.5). According to the PCHC and inconsistency approach, 95% of PlwD rated their health differently compared to proxies; 66% with divergent responses in at least three EQ-5D-5L dimensions. Nine dyads (5%) showed identical ratings. Discrepancies of one higher or lower EQ-5D-5L response represented the most frequent discrepancy (35.4%). Caregivers were two times more likely to report "moderate problems," representing the middle of the 5-point Likert scale. Usual activities had the lowest agreement between ratings (weighted kappa = 0.23). In PlwD reporting no or some problems in EQ-5D-5L-dimensions, proxies were more likely to report more problems and vice versa, especially in the more observable dimension usual activities and less likely in the less observable domains pain/discomfort and anxiety/depression. DISCUSSION: The central tendency bias observed in proxy-ratings could be associated with assessment uncertainties, resulting in an underestimation (overestimation) in PlwD reporting better (worse) health. This diverging trend extends the knowledge from previous studies and underlines the need for more methodological research in this area. Highlights: People living with dementia (PlwD) rate their health differently than proxies.Proxy-ratings over- or underestimate PlwD health when self-ratings are low or high.Proxies indicate a possible central tendency bias.Further research is needed to understand influencing factors.

Patient Portals Fail to Collect Structured Information About Who Else is Involved in a Person's Care.

The US health care delivery system does not systematically engage or support family or friend care partners. Meanwhile, the uptake and familiarity of portals to personal health information are increasing among patients. Technology innovations, such as shared access to the portal, use separate identity credentials to differentiate between patients and care partners. Although not well-known, or commonly used, shared access allows patients to identify who they do and do not want to be involved in their care. However, the processes for patients to grant shared access to portals are often limited or so onerous that interested patients and care partners often circumvent the process entirely. As a result, the vast majority of care partners resort to accessing portals using a patient's identity credentials-a "do-it-yourself" solution in conflict with a health systems' legal responsibility to protect patient privacy and autonomy. The personal narratives in this viewpoint (shared by permission) elaborate on quantitative studies and provide first-person snapshots of challenges faced by patients and families as they attempt to gain or grant shared access during crucial moments in their lives. As digital modalities increase patient roles in health care interactions, so does the importance of making shared access work for all stakeholders involved-patients, clinicians, and care partners. Electronic health record vendors must recognize that both patients and care partners are important users of their products, and health care organizations must acknowledge and support the critical contributions of care partners as distinct from patients.

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.

Background: Rare genetic disorders may result in death before a definitive clinical diagnosis is established. Aim: This study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders. Results: Six couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed. Four out of 6 couples reported consanguinity. Exome and genome sequencing were performed for the parents. Carrier status of two rare lethal metabolic disorders was confirmed in one consanguineous couple. Three couples were carriers of 3 other rare diseases. Variants of LYST, MPV17, HEXB, ITGB4, CD3E, ASPM, TK2, COL11A2, and LAMB3 genes were identified. Six out of 10 were pathogenic variants, out of which 4 correlated with the demised children's phenotypes. One couple was negative for pathogenic variants. The last couple did not undergo genetic testing since they were beyond the fertile window. Conclusion: Appropriate parental genetic evaluation and counseling are mandatory for selecting the right genetic test to certify the diagnosis postmortem, by virtue of molecular autopsy by proxy. Clarifying a rare disorder diagnosis can help couples to avoid recurrence and plan early for their next pregnancies.

Improving Estimates of Dissolved Organic Carbon (DOC) Concentration from In Situ Fluorescence Measurements across Estuaries and Coastal Wetlands.

The use of optical proxies is essential to the sustained monitoring of dissolved organic carbon (DOC) in estuaries and coastal wetlands, where dynamics occur on subhour time scales. In situ dissolved organic matter (DOM) fluorescence, or FDOM, is now routinely measured along with ancillary water-quality indicators by commercial sondes. However, its reliability as an optical proxy of DOC concentration is often limited by uncertainties caused by in situ interferences and by variability in DOM composition and water matrix (ionic strength, pH) that are typical at the land-ocean interface. Although corrections for in situ interferences already exist, validated strategies to account for changes in the DOM composition and water matrix in these systems are still lacking. The transferability of methods across systems is also poorly known. Here, we used a comprehensive data set of laboratory-based excitation-emission matrix fluorescence and DOC concentration matched to in situ sonde measurements to develop and compare approaches that leverage ancillary water-quality indicators to improve estimates of DOC concentration from FDOM. Our analyses demonstrated the validity of in situ interference correction schemes, the importance of ancillary water-quality indicators to account for DOM composition and water matrix change, and the good transferability of the proposed methods.

Natural Language Processing to Identify Home Health Care Patients at Risk for Becoming Incapacitated With No Evident Advance Directives or Surrogates.

OBJECTIVES: Home health care patients who are at risk for becoming Incapacitated with No Evident Advance Directives or Surrogates (INEADS) may benefit from timely intervention to assist them with advance care planning. This study aimed to develop natural language processing algorithms for identifying home care patients who do not have advance directives, family members, or close social contacts who can serve as surrogate decision-makers in the event that they lose decisional capacity. DESIGN: Cross-sectional study of electronic health records. SETTING AND PARTICIPANTS: Patients receiving post-acute care discharge services from a large home health agency in New York City in 2019 (n = 45,390 enrollment episodes). METHODS: We developed a natural language processing algorithm for identifying information documented in free-text clinical notes (n = 1,429,030 notes) related to 4 categories: evidence of close relationships, evidence of advance directives, evidence suggesting lack of close relationships, and evidence suggesting lack of advance directives. We validated the algorithm against Gold Standard clinician review for 50 patients (n = 314 notes) to calculate precision, recall, and F-score. RESULTS: Algorithm performance for identifying text related to the 4 categories was excellent (average F-score = 0.91), with the best results for "evidence of close relationships" (F-score = 0.99) and the worst results for "evidence of advance directives" (F-score = 0.86). The algorithm identified 22% of all clinical notes (313,290 of 1,429,030) as having text related to 1 or more categories. More than 98% of enrollment episodes (48,164 of 49,141) included at least 1 clinical note containing text related to 1 or more categories. CONCLUSIONS AND IMPLICATIONS: This study establishes the feasibility of creating an automated screening algorithm to aid home health care agencies with identifying patients at risk of becoming INEADS. This screening algorithm can be applied as part of a multipronged approach to facilitate clinician support for advance care planning with patients at risk of becoming INEADS.

The use of proxy measurement of internal states in people with intellectual disability: A scoping review.

BACKGROUND: The measurement of internal states of people with an intellectual disability is challenging. Given these difficulties, proxy respondents are sometimes used. However, the literature provides some caution about the validity of the use of proxy respondents. AIMS: This review aims to identify the available evidence regarding the use of proxy respondents in the measurement of internal states of people with intellectual disabilities. METHOD: The Arksey and O'Malley scoping review framework was used for this review, refined with the Joanna Briggs Institute Methodology. RESULTS: Results indicate there are some differences in the findings reported with respect to the efficacy of the use of proxy respondents. These may be due to a number of inconsistencies and weaknesses in examinations of their utility. CONCLUSIONS: If proxy-reports are to be useful in understanding the internal states of people with intellectual disability, researchers need to address the shortcomings revealed by this review.

Informed Decision-Making with and for People with Dementia-Efficacy of the PRODECIDE Education Program for Legal Representatives: A Randomized Controlled Trial (PRODECIDE-RCT) and Process Evaluation.

Legal representatives take a major role in healthcare decisions with and for people with dementia, but only a minority has a qualification in this field. The aim was to evaluate the efficacy of the PRODECIDE education program for legal representatives. In a prospective randomized controlled trial, legal representatives (volunteers and professionals, representing at least one person with dementia) were allocated (1:1 computer-generated block randomization) to the intervention (PRODECIDE education program) and control (standard care) groups. The primary outcome measure was knowledge, operationalized as the understanding of decision-making processes and in setting realistic expectations. Only data entry and analyses were blinded. A process evaluation in a mixed methods design was performed. We enrolled 218 legal representatives, and 216 were included in the primary analysis (intervention n = 109, control n = 107). The percentage of correct answers in the knowledge test post intervention was 69.0% in the intervention and 43.4% in the control group (difference 25.6%; CI 95%, 21.3 to 29.8; p < 0.001). In the comparison of professional and voluntary representatives, professionals had 13.6% (CI 95%, 8.0 to 19.2; p < 0.001) more correct answers. The PRODECIDE education program can improve the knowledge of legal representatives, an important prerequisite for evidence-based, informed decision-making.

Developing isotopic proxies to reconstruct the metabolic rates and thermal histories of octopus.

Understanding an animal's metabolic rate and thermal history is pivotal for ecological research. Recent studies have proposed the use of stable carbon and oxygen isotopes (δ13C and δ18O) in biogenic carbonates as proxies of metabolic rate and experienced temperature, respectively, to overcome the challenges of directly measuring these data in the field. Our study represents the first experimental investigation to develop δ13C and δ18O proxies in octopus. Octopus berrima hatchlings were raised in captivity, at varying water temperatures, for up to 110 days. O. berrima statoliths were then subsequently analysed for δ13C and δ18O values. The proportion of metabolically derived carbon, or respired carbon (Cresp), increased as the octopus grew (slope = 0.076, R2 = 0.72), suggesting an influence of somatic growth rate and body mass on δ13C values. Additionally, we identified an inverse correlation between δ18O values and environmental temperature (slope = -0.163, R2 = 0.91), which was subsequently used to develop a thermal reconstruction model. Our experiment aids in interpreting stable isotopic values in statoliths and their application as temperature and metabolic proxies in wild-caught octopus. Such proxies will increase our monitoring capabilities of these ecologically and commercially significant cephalopods and contribute to their conservation and effective management.

Influence of error-augmentation on the dynamics of visuomotor skill acquisition: insights from proxy-process models.

Our study addresses the critical question of how learners acquire skills without the constant crutch of feedback, using a specialized training approach with intermittent feedback. Despite recognized benefits in skill retention, the underlying mechanisms of intermittent feedback in motor control neuroscience remain elusive. Leveraging a previously published dataset from visuomotor learning experiments with intermittent feedback, we tested a wide range of proxy-process models that posit the presence of an inferred error signal even when an explicit sensory performance is not present. The model structures encompassed a spectrum from first-order to higher-order variants, incorporating both constant and error-dependent rates of change in error. Furthermore, these proxy-process models investigated the impact of error-augmentation (EA) training on visuomotor learning dynamics. Rigorous cross-validation consistently identified a second-order proxy-process model structure accurately predicting motor learning across subjects and learning tasks. Model parameters elucidated the varying influences of EA settings on the rates of change in error, inter-trial variability, and steady-state performance. We then introduced a dynamic-Proxy support Multi-Rate Motor Learning (dPxMRML) model, which shed light on EA's effects on the fast and slow learning dynamics. The dPxMRML model accurately predicted subjects' performance during and beyond training phases, highlighting EA settings conducive to long-term retention. This research yields crucial insights for personalized training program design, applicable in neuro-rehabilitation, sports, and performance training.NEW & NOTEWORTHY Breaking new ground in motor learning, our research unveils the intricacies of skill acquisition without continuous feedback. By using a specialized training approach with intermittent feedback, our study reveals the previously elusive mechanisms behind this process. The introduction of innovative proxy-process models, particularly the dynamic-Proxy support Multi-Rate Motor Learning (dPxMRML) model, brings a fresh perspective to understanding the impact of error-augmentation (EA) training on learning and retention of motor skills.

[Frequency and barriers to the patient advanced directive and lasting power of attorney: findings from a prospective observation study in palliative care services]. / Häufigkeit und Barrieren bei Patientenverfügung und Vorsorgevollmacht: Erkenntnisse aus einer prospektiven Observationsstudie im palliativmedizinischen Dienst.

BACKGROUND: The advance directive and lasting power of attorney are instruments to strengthen patients' autonomy. A hospital-based palliative care consultation service can advise patients and family members about these instruments. This study investigates the need for such consultation among patients with life-limiting illness. METHODS: This prospective observational study on intensive and non-intensive care units includes patients with a request for palliative care consultation. Patient-related factors were evaluated for their possible association with the presence or absence of advance directives or power of attorney. In addition, focus group interviews with members of the palliative care consultation team were carried out to identify barriers which prevent patients from drawing up such documents. RESULTS: A total of 241 oncological and 53 non-oncological patients were included with a median age of 67 years; 69 (23%) patients were treated in the intensive care unit (ICU). Overall, 98 (33%) patients had advance directives, and 133 (45%) had determined a legal health care proxy in advance. A total of 52 patients died in hospital (17.7%). Only age and relationship status were associated with directives. In interviews, the following barriers were identified: information deficit, concern regarding discontinuation of treatment, loss of autonomy and wish to avoid a burden for the family. CONCLUSION: The majority in this severely ill patient population lack advance directives. In order to remove barriers, more effective information and counseling is required about such directives. In particular, guidance should include potential clinical situations in which such directives are potentially beneficial.

Interpretation of 10 years of Alzheimer's disease genetic findings in the perspective of statistical heterogeneity.

Common genetic variants and susceptibility loci associated with Alzheimer's disease (AD) have been discovered through large-scale genome-wide association studies (GWAS), GWAS by proxy (GWAX) and meta-analysis of GWAS and GWAX (GWAS+GWAX). However, due to the very low repeatability of AD susceptibility loci and the low heritability of AD, these AD genetic findings have been questioned. We summarize AD genetic findings from the past 10 years and provide a new interpretation of these findings in the context of statistical heterogeneity. We discovered that only 17% of AD risk loci demonstrated reproducibility with a genome-wide significance of P < 5.00E-08 across all AD GWAS and GWAS+GWAX datasets. We highlighted that the AD GWAS+GWAX with the largest sample size failed to identify the most significant signals, the maximum number of genome-wide significant genetic variants or maximum heritability. Additionally, we identified widespread statistical heterogeneity in AD GWAS+GWAX datasets, but not in AD GWAS datasets. We consider that statistical heterogeneity may have attenuated the statistical power in AD GWAS+GWAX and may contribute to explaining the low repeatability (17%) of genome-wide significant AD susceptibility loci and the decreased AD heritability (40-2%) as the sample size increased. Importantly, evidence supports the idea that a decrease in statistical heterogeneity facilitates the identification of genome-wide significant genetic loci and contributes to an increase in AD heritability. Collectively, current AD GWAX and GWAS+GWAX findings should be meticulously assessed and warrant additional investigation, and AD GWAS+GWAX should employ multiple meta-analysis methods, such as random-effects inverse variance-weighted meta-analysis, which is designed specifically for statistical heterogeneity.

Capture of real-time data from electronic health records: scenarios and solutions.

Background: The integration of real-time data (RTD) in the electronic health records (EHRs) is transforming the healthcare of tomorrow. In this work, the common scenarios of capturing RTD in the healthcare from EHRs are studied and the approaches and tools to implement real-time solutions are investigated. Methods: Delivering RTD by representational state transfer (REST) application programming interfaces (APIs) is usually accomplished through a Publish-Subscribe approach. Common technologies and protocols used for implementing subscriptions are REST hooks and WebSockets. Polling is a straightforward mechanism for obtaining updates; nevertheless, it may not be the most efficient or scalable solution. In such cases, other approaches are often preferred. Database triggers and reverse proxies can be useful in RTD scenarios; however, they should be designed carefully to avoid performance bottlenecks and potential issues. Results: The implementation of subscriptions through REST hooks and WebSocket notifications using a Fast Healthcare Interoperability Resources (FHIR) REST API, as well as the design of a reverse proxy and database triggers is described. Reference implementations of the solutions are provided in a GitHub repository. For the reverse proxy implementation, the Go language (Golang) was used, which is specialized for the development of server-side networking applications. For FHIR servers a python script is provided to create a sample Subscription resource to send RTD when a new Observation resource for specific patient id is created. The sample WebSocket client is written using the "websocket-client" python library. The sample RTD endpoint is created using the "Flask" framework. For database triggers a sample structured query language (SQL) query for Postgres to create a trigger when an INSERT or UPDATE operation is executed on the FHIR resource table is available. Furthermore, a use case clinical example, where the main actors are the healthcare providers (hospitals, physician private practices, general practitioners and medical laboratories), health information networks and the patient are drawn. The RTD flow and exchange is shown in detail and how it could improve healthcare. Conclusions: Capturing RTD is undoubtedly vital for health professionals and successful digital healthcare. The topic remains unexplored especially in the context of EHRs. In our work for the first time the common scenarios and problems are investigated. Furthermore, solutions and reference implementations are provided which could support and contribute to the development of real-time applications.

Agreement between quality of life assessed using family proxy and child self-reports among children with hematologic malignancy.

Evidence-based literature recognizes that the different degrees of agreement between a child self-report and a proxy-report depend on the characteristics of the domains, the child's age and illness, the proxy's own perspective on QoL, and family attendance during the child's hospitalization. This study aims to determine the degree of agreement between proxy-reports and child self-reports on quality of life (QoL) for children with hematologic malignancy ranging in age from 5 to 18 years who are undergoing treatment. We retrieved clinical QoL data from a study titled "Dynamic change in QoL for Vietnamese children with hematologic malignancy" from April 2021 to December 2022. To evaluate the magnitude of agreement between self-reports and proxy-reports, intraclass correlation coefficients (ICCs) for 259 pairs of measurements were quantified. Using independent t tests, the mean differences between self-reports and proxy-reports were tested. Moderate agreement was consistent through all age groups for five subscales, including physical, psychosocial, pain, nausea, and procedural anxiety (ICCs ranged from 0.53 to 0.74). The weakest agreement appeared in two groups, subjects aged 5-7 years and 13-18 years on six domains (school, treatment anxiety, worry, cognitive problems, perceived physical appearance, and communication) (-0.01 to 0.49). Child self-rating was consistently higher than that of proxies for the physical, emotional, and nausea domains among children aged 5-7 years and for procedural anxiety, treatment anxiety, and cognitive problems among children aged 8-12 years.    Conclusion: The agreement level of self-reports and proxy-reports was differently distributed by child age and the PedsQL domains. The proxy children agreement on QoL among children with hematologic malignancy was divergent according to the different age groups, which could potentially be explained by proxy-child bonding at different stages of childhood development. Our recommendation for future studies is to explore children's age as a potential factor influencing proxy agreement on QoL among children with cancer. What is Known: • Children and their proxies may think differently about quality of life (QoL). • Comparing two sources of data (i.e., child and proxy) on aspects of QoL can help identify the discrepancies between children's perceptions of their QoL and their parents' perceptions. This can be useful in terms of identifying potential areas for improvement or concern and may also be helpful in making decisions about treatment and care. What is New: • Our study results demonstrated that proxies who comprised children aged 5-7 years or 13-18 years reported differently among domains that cannot be expressed verbally or with body language, including cognitive problems, perceived physical appearance, and communication. • Children generally perceived their QoL to be better than their proxies. Therefore, a more comprehensive understanding of children's QoL may require the consideration of multiple sources of data from various perspectives.

Group 2i Isochrysidales thrive in marine and lacustrine systems with ice cover.

Global warming is causing rapid changes to the cryosphere. Predicting the future trajectory of the cryosphere requires quantitative reconstruction of its past variations. A recently identified sea-ice-associated haptophyte, known as Group 2i Isochrysidales, has given rise to a new sea-ice proxy with its characteristic alkenone distributions. However, apart from the occurrence of Group 2i Isochrysidales in regions with sea ice, and the empirical relationship between C37:4 alkenone abundance and sea-ice concentration, little is known about the ecology of these haptophyte species. Here, we systematically mapped the spatial and temporal occurrence of known Group 2i Isochrysidales based on environmental DNA in both marine and lacustrine environments. Our results indicate Group 2i is widely distributed in icy marine and lacustrine environments in both Northern and Southern Hemisphere, but is absent in warm environments. Temporally, Group 2i is part of the sea-ice algae bloom during the cold seasons, in contrast to other Isochrysidales that bloom in open waters during warm seasons. Our results indicate that ice is a prerequisite for the occurrence of the psychrophilic Group 2i haptophytes in marine and lacustrine ecosystems and further affirms its value for past ice reconstructions.