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1.
Front Endocrinol (Lausanne) ; 12: 641543, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33815294

RESUMEN

X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient's needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.


Asunto(s)
Raquitismo Hipofosfatémico Familiar/diagnóstico , Raquitismo Hipofosfatémico Familiar/terapia , Factor-23 de Crecimiento de Fibroblastos/metabolismo , Mutación , Endopeptidasa Neutra Reguladora de Fosfato PHEX/genética , Sociedades Médicas/organización & administración , Fosfatasa Alcalina/metabolismo , Anticuerpos Monoclonales Humanizados/administración & dosificación , Bélgica , Consenso , Raquitismo Hipofosfatémico Familiar/complicaciones , Raquitismo Hipofosfatémico Familiar/genética , Humanos , Hipofosfatemia/complicaciones , Hipofosfatemia/genética , Comunicación Interdisciplinaria , Osteomalacia/complicaciones , Osteomalacia/genética , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Vitamina D
2.
Adv Ther ; 33(12): 2257-2268, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27796913

RESUMEN

INTRODUCTION: Self-administration of medicines or dietary supplements without any physician's advice is a widespread behavior and appears to be more frequently practiced by women. Moreover, reasons to self-administer products are often pains and injuries especially among athletes who might also use remedies to improve physical performance. The objective of this study was thus to assess the prevalence of self-administration of medicines and dietary supplements as well as its determinants among female amateur runners. METHODS: Our sample was comprised of women who took part in amateur running events. Data regarding self-administration of substances, exclusively aiming at being physically prepared for the running event (i.e., intake the week before), were collected through an anonymous self-administered questionnaire including four specific themes (i.e., general information, self-administered medicines and dietary supplements, context of self-administration of substances and knowledge of the anti-doping regulations). RESULTS: A total of 136 women, with a median age of 39 years (interquartile range: 27-47), volunteered. Among them, 34.6% reported self-administration of medicines during the period immediately preceding the running event, with the aim to be physically prepared. More than one third (33.8%) also declared self-administration of dietary supplements. Furthermore, we observed that about 8.1% of the sample had consumed a potentially doping substance. After adjustments for confounding variables, the probability of self-administration of products (medicines or supplements) increased significantly with the intensity of the activity and the membership in a sports club. CONCLUSIONS: Our study showed that self-administration of products among female runners seems to be a widespread behavior, where the intensity of the sports practice and the network of runners seem to influence the decision to resort to this behavior.


Asunto(s)
Atletas/psicología , Suplementos Dietéticos , Medicamentos sin Prescripción/administración & dosificación , Medicamentos bajo Prescripción/administración & dosificación , Autoadministración/psicología , Adulto , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Prevalencia , Encuestas y Cuestionarios
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