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2.
Orphanet J Rare Dis ; 14(1): 139, 2019 06 13.
Artículo en Inglés | MEDLINE | ID: mdl-31196103

RESUMEN

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients' advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally.


Asunto(s)
Displasia Fibrosa Poliostótica/diagnóstico por imagen , Displasia Fibrosa Ósea/diagnóstico por imagen , Humanos
3.
J Am Med Inform Assoc ; 23(1): 119-28, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26912538

RESUMEN

OBJECTIVES: To determine the impact of tethered personal health record (PHR) use on patient engagement and intermediate health outcomes among patients with coronary artery disease (CAD). METHODS: Adult CAD patients (N = 200) were enrolled in this prospective, quasi-experimental observational study. Each patient received a PHR account and training on its use. PHRs were populated with information from patient electronic medical records, hosted by a Health Information Exchange. Intermediate health outcomes including blood pressure, body mass index, and hemoglobin A1c (HbA1c) were evaluated through electronic medical record review or laboratory tests. Trends in patient activation measure® (PAM) were determined through three surveys conducted at baseline, 6 and 12 months. Frequency of PHR use data was collected and used to classify participants into groups for analysis: Low, Active, and Super users. RESULTS: There was no statistically significant improvement in patient engagement as measured by PAM scores during the study period. HbA1c levels improved significantly in the Active and Super user groups at 6 months; however, no other health outcome measures improved significantly. Higher PAM scores were associated with lower body mass index and lower HbA1c, but there was no association between changes in PAM scores and changes in health outcomes. Use of the PHR health diary increased significantly following PHR education offered at the 6-month study visit and an elective group refresher course. CONCLUSIONS: The study findings show that PHR use had minimal impact on intermediate health outcomes and no significant impact on patient engagement among CAD patients.


Asunto(s)
Enfermedad de la Arteria Coronaria/terapia , Registros Electrónicos de Salud/estadística & datos numéricos , Registros de Salud Personal , Adulto , Anciano , Anciano de 80 o más Años , Índice de Masa Corporal , Alfabetización Digital , Enfermedad de la Arteria Coronaria/sangre , Autoevaluación Diagnóstica , Femenino , Hemoglobina Glucada/análisis , Estado de Salud , Humanos , Seguro de Salud , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Resultado del Tratamiento
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