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1دورية أكاديمية
المؤلفون: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Registry, Registry Hub, Neuromuscular Diseases, Rare Diseases, FAIR data, Medicine
الوصف: Abstract Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness. Results The registry has three-layered datasets, with European Commission-mandated data elements (EU-CDEs), a set of cross-neuromuscular data elements (NMD-CDEs) and a dataset of disease-specific data elements that function modularly (DS-DEs). The registry captures clinical, neuromuscular imaging, neuromuscular histopathology, biological and genetic data and patient-reported outcomes in a computer-interpretable format using selected ontologies and classifications. The EURO-NMD registry is connected to the EURO-NMD Registry Hub through an interoperability layer. The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange. Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources. Conclusions Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, The French FSHD registry collaboration group
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Medicine
الوصف: Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. Results Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. Conclusions Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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المؤلفون: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista
مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Molecular Biology, Immunology, Cancer, Science Policy, Computational Biology, Information Systems not elsewhere classified, Registry, Registry Hub, Neuromuscular Diseases, Rare Diseases, FAIR data
الوصف: Additional file 1: List of Registry Key Process Indicators (KPIs).
الإتاحة: https://doi.org/10.6084/m9.figshare.25223533.v1Test
https://figshare.com/articles/dataset/Additional_file_1_of_EURO-NMD_registry_federated_FAIR_infrastructure_innovative_technologies_and_concepts_of_a_patient-centred_registry_for_rare_neuromuscular_disorders/25223533Test -
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5كتاب
المؤلفون: Jean-François Mari, Florence Le Ber, El Ghali Lazrak, Marc Benoît, Catherine Eng, Annabelle Thibessard, Pierre Leblond
مصطلحات موضوعية: New Fundamental Technologies in Data Mining
الإتاحة: https://doi.org/10.5772/13720Test
https://mts.intechopen.com/articles/show/title/using-markov-models-to-mine-temporal-and-spatial-dataTest -
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المؤلفون: Helena Temkin Greener, Christine van Reenen, Donna B. Raziano, Catherine Eng, Matthew K. McNabney, Jill Szydlowski, Micah Segelman, Bruce Kinosian
المصدر: Journal of the American Geriatrics Society. 62:320-324
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Health Services for the Aged, Frail Elderly, Population, Medicare, Hospital discharge, medicine, Humans, Community Health Services, education, Aged, Retrospective Studies, Aged, 80 and over, education.field_of_study, Medicaid, business.industry, Managed Care Programs, Retrospective cohort study, Long-Term Care, United States, Dually eligible, Hospitalization, Emergency medicine, Female, Geriatrics and Gerontology, business
الوصف: Objectives: To measure the rates of hospitalization, readmission, and potentially avoidable hospitalization (PAH) in the Program of All-Inclusive Care for the Elderly (PACE). Design: Retrospective study. Setting: PACE. Participants: PACE enrollees. Measurements: Hospitalization and PAH rates were measured per 1,000 person-years. Readmission was defined as any return to the hospital within 30 days of prior hospital discharge. PAHs were defined as hospitalizations for conditions that previously established criteria have identified as possibly preventable or manageable without hospitalization. Results: Rate of hospitalization was 539/1,000, vs 962/1,000 for dually eligible aged or disabled waiver (ADW) enrollees. Thirty-day readmission was 19.3%, compared with 22.9% for the national population of dually eligible older enrollees. PAH rate was 100/1,000, compared with 250/1,000 for dually eligible ADW enrollees. Considerable variation was observed between sites. Conclusion: PACE enrollees experienced lower rates of hospitalization, readmission, and PAH than similar populations. Variations in hospitalization rates between PACE sites suggest opportunities for quality improvement.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b002baa59719b2ba57df3eab9381eb30Test
https://doi.org/10.1111/jgs.12637Test -
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المؤلفون: Louise C. Walter, Catherine Eng, Alexander K. Smith, Julie N. Thai
المصدر: Journal of the American Geriatrics Society. 61:264-269
مصطلحات موضوعية: Adult, Male, Gerontology, medicine.medical_specialty, Minority group, Activities of daily living, Attitude of Health Personnel, Frail Elderly, Decision Making, MEDLINE, Truth Disclosure, Article, Quality of life (healthcare), Surveys and Questionnaires, Activities of Daily Living, Humans, Medicine, Disabled Persons, Qualitative Research, Aged, Balance (ability), Geriatrics, Physician-Patient Relations, business.industry, Patient Preference, Middle Aged, Prognosis, Nursing Homes, Quality of Life, Anxiety, Female, Geriatrics and Gerontology, medicine.symptom, business, Qualitative research
الوصف: Background: To explore clinician choice of whether to discuss prognosis with their frail older patients. Design: Qualitative interview study. Setting: Primary care clinicians were recruited from nursing homes, community-based clinics, and academic medical centers. Participants: Three geriatric nurse practitioners, nine geriatricians, five general internists, and three family medicine physicians with a mean age of 44 and a mean 12 years in practice. Seventeen clinicians had patient panels with 80% or more community-dwelling outpatients, 13 had patient panels with 50% or more patients aged 85 and older, and 16 had patient panels with 25% or more of patients in a minority group (Asian, African American, Hispanic). Measurements: Clinicians were asked to describe their practice of discussing long-term (
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d05c3edf976554260247b736a4f19cTest
https://doi.org/10.1111/jgs.12098Test -
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المؤلفون: Lindsey C. Yourman, Eliseo J. Pérez-Stable, Alexander K. Smith, Cyrus Ahalt, Catherine Eng, Jennifer King, Sara J. Knight
المصدر: Journal of the American Geriatrics Society. 60:569-576
مصطلحات موضوعية: Male, Gerontology, Activities of daily living, Cross-sectional study, Population, Ethnic group, Psychological intervention, Article, Quality of life, Activities of Daily Living, Interview, Psychological, Humans, Medicine, Disabled Persons, education, Aged, Psychiatric Status Rating Scales, education.field_of_study, business.industry, Cross-Sectional Studies, Wheelchairs, Quality of Life, Female, Medical model of disability, Geriatrics and Gerontology, business, Qualitative research
الوصف: It is likely that quality of life assessments will be critical in helping the healthcare system address the needs of a rapidly growing and diversifying geriatric population, especially those living with late-life disability.1,2 Eighteen million people aged 65 and older in the United States are currently living with a disability.2 Late life is a term used to describe a period near the end of life (typically ≥ 65) and distinguishes this population from people who develop disability earlier in life.3,4 As people move into late life, their level of disability increases dramatically.5,6 In one study of individuals aged 85 to 89 and 90 and older, only 15% and 3%, respectively, were able to perform all activities of daily living (ADLs) and instrumental activities of daily living (IADLs) independently in their last year of life.7 In general, many older adults are living with disability for years before death, and this proportion rises dramatically during the last years of life.8 Despite the growing population of elderly adults with late-life disability, little is known about their experience or quality of life. Most nondisabled people fear living in a state of disability before death and are potentially unprepared to manage declining function and dependence.9,10 Previous research on quality of life in the general population has assumed that quality of life decreases as people age and become more disabled,11 but the best source for information about quality of life is not the projection of healthy individuals about quality of life in hypothetical states of disability but the perspectives of the elderly adults who are living with late-life disability. This research is lacking. To address the lack of information about this population in quality-of-life research, a qualitative study was conducted to characterize the factors that contribute to quality of life in a diverse population of elderly adults with late-life disability. It was decided to study this question in a diverse population because culture can greatly influence many of the factors that influence quality of life, and it was desired to examine a range of perspectives that reflects the diversification of the elderly population in the United States. If the quality of life that elderly adults with late life disability experience is better understood, it will be possible to develop better assessment tools to measure quality of life accurately in the future and, as a result, to target interventions to improve quality of life for a growing population of elderly adults with late-life disability and significant health needs.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::240f53078fdbf632a0be7bf2900a66e1Test
https://doi.org/10.1111/j.1532-5415.2011.03844.xTest -
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المؤلفون: Alexander K. Smith, Cyrus Ahalt, Lindsey C. Yourman, Eliseo J. Pérez-Stable, Catherine Eng, Louise C. Walter
المصدر: Journal of General Internal Medicine. 27:568-575
مصطلحات موضوعية: Adult, Male, Gerontology, Activities of daily living, Decision Making, MEDLINE, Truth Disclosure, Interviews as Topic, Quality of life (healthcare), Nursing, Surveys and Questionnaires, Activities of Daily Living, Internal Medicine, Humans, Medicine, Disabled Persons, Qualitative Research, Original Research, Aged, Pace, Aged, 80 and over, Physician-Patient Relations, business.industry, Extramural, Patient Preference, Prognosis, Patient preference, Quality of Life, Female, business, Qualitative research
الوصف: Prognosis is critical in individualizing care for older adults with late life disability. Evidence suggests that preferences for prognostic information may be culturally determined. Yet little is known about the preferences of diverse elders for discussing prognosis.To determine the preferences for discussing prognosis of a diverse sample of older adults with late-life disability.We interviewed 60 older adults with mean age 78 and mean 2.5 Activities of Daily Living dependencies. Participants were recruited from San Francisco's On Lok program, the first Program of All-inclusive Care for the Elderly (PACE). Participants were interviewed in English, Spanish, and Cantonese, and responded to scenarios in which their doctors estimated they had 5 years and 1 year left to live. Open-ended questions explored the reasons for their responses. Results were analyzed qualitatively using grounded theory.Sixty-five percent of participants wanted to discuss the prognosis if their doctor estimated they had 5 years to live and 75% if the estimate was 1 year. Three themes were prominent among patients who wanted to discuss prognosis: to prepare, to make the most of the life they had left, and to make medical or health-related decisions. Those who preferred not to discuss prognosis described emotional difficulty, the uncertainty of prognosis, or that it would not be useful. Nearly all participants said that doctors should not make assumptions based on race or ethnicity, though differences between ethnic groups emerged.Most patients in this diverse sample of disabled elders were interested in discussing prognosis, while a substantial minority was not. Among those participants who preferred to discuss prognosis, many said that prognostic information would be important as they made difficult medical and personal decisions in late-life. Clinicians should inquire about preferences for discussing prognosis before sharing prognostic estimates.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28db7d6b847fbf729af4b0feecb06b6eTest
https://doi.org/10.1007/s11606-011-1933-0Test -
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المؤلفون: Catherine Eng, W. John Boscardin, Sei J. Lee, Kathy Rice-Trumble, Irena Stijacic Cenzer, Elbert S. Huang
المصدر: Journal of the American Geriatrics Society. 59:666-672
مصطلحات موضوعية: Geriatrics, Gerontology, medicine.medical_specialty, Pediatrics, endocrine system diseases, business.industry, nutritional and metabolic diseases, Retrospective cohort study, Guideline, Emergency department, Hypoglycemia, medicine.disease, Insulin resistance, Diabetes mellitus, medicine, Geriatrics and Gerontology, business, Glycemic
الوصف: OBJECTIVES: To determine the hypo- and hyperglycemic outcomes associated with implementing the American Geriatrics Society (AGS) guideline for a glycosylated hemoglobin (HbA1c) level of less than 8% in frail older adults with diabetes mellitus (DM). DESIGN: Guideline implementation. SETTING: Program of All-Inclusive Care for the Elderly. PARTICIPANTS: All participants in the before (October 2002�December 2004, n=338), early (January 2005�June 2006, n=289) and late (July 2006�December 2008, n=385) periods of guideline implementation with a diagnosis of DM and at least one HbA1c measurement. INTERVENTION: Clinician education in 2005 with annual monitoring of the proportion of each clinician's patients with DM with HbA1c less than 8%. MEASUREMENTS: Hypoglycemia (blood glucose 400 mg/dL), and severe hypoglycemia (emergency department (ED) visit for hypoglycemia). RESULTS: Participants in the before, early, and late periods were similar in age, race and ethnicity, comorbidities, and functional dependence. Antihyperglycemic medication use was greater in the late period, with more participants using metformin (28% before, 42% late, P
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::462a45277529b9ce79b4a9cefb7cb6d7Test
https://doi.org/10.1111/j.1532-5415.2011.03362.xTest
النص الكامل