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1.
Acta Myol ; 32(2): 100-5, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24399867

RESUMEN

Patients with muscle pathology are a challenge for anaesthesiologists because of possible life-threatening general anaesthesia complications. A review of the current medical literature on the issue clearly indicates that increasing awareness by anaesthesiologists in recent years has led to a reduction in the occurrence of adverse events in patients with diagnostically well-defined muscle disease. On the other hand, the current emerging aspect is that the great majority of complications concern subjects with clinically non-overt (silent to mildly symptomatic) and thus undiagnosed myopathy. With a view to improving prevention of possible critical anaesthesia complications in such patients, we present a "Safe Anaesthesia Table", listing both the anaesthetic drugs to be avoided and those considered harmless for myopathic patients, irrespective of age and type of pathology. In addition, a brief outline about the clinical aspects suggestive of a possible muscle pathology is also provided. Using "safe drugs" during routine surgical procedures in subjects with suspected undiagnosed myopathy will enable the anaesthesiologist to avoid delaying surgery, while protecting them from anaesthesia complications. By following this approach the presumed myopathy can be properly investigated after surgery.


Asunto(s)
Anestésicos , Errores Diagnósticos/prevención & control , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Enfermedades Musculares , Adulto , Anestesia/métodos , Anestésicos/administración & dosificación , Anestésicos/efectos adversos , Anestésicos/clasificación , Enfermedades Asintomáticas , Niño , Contraindicaciones , Monitoreo de Drogas/métodos , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/clasificación , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/etiología , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/fisiopatología , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/prevención & control , Humanos , Enfermedades Musculares/complicaciones , Enfermedades Musculares/diagnóstico , Enfermedades Musculares/fisiopatología , Daño del Paciente/prevención & control , Cuidados Preoperatorios/métodos
2.
Orphanet J Rare Dis ; 7: 37, 2012 Jun 12.
Artículo en Inglés | MEDLINE | ID: mdl-22691392

RESUMEN

The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.


Asunto(s)
Enfermedades Genéticas Congénitas/genética , Enfermedades Genéticas Congénitas/patología , Comunicación Interdisciplinaria , Laminas/genética , Investigación Biomédica Traslacional , Enfermedades Genéticas Congénitas/diagnóstico , Humanos , Laminas/deficiencia , Laminas/fisiología , Lipodistrofia/genética , Lipodistrofia/patología , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Distrofia Muscular de Emery-Dreifuss/genética , Distrofia Muscular de Emery-Dreifuss/patología , Membrana Nuclear/genética , Membrana Nuclear/patología , Progeria/genética , Progeria/patología , Enfermedades Raras
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