RESUMEN
Hereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant disorder characterized by recurrent episodes of severe arm and shoulder pain with weakness, atrophy, and sensory impairment in a brachial plexus distribution. Recent studies mapped the HNA locus to chromosome 17q25. Two pedigrees with clinically typical HNA in which markers from chromosome 17q25 do not cosegregate with the disease and in which lod scores do not support linkage to chromosome 17q25 were identified.
Asunto(s)
Neuritis del Plexo Braquial/genética , Cromosomas Humanos Par 17/genética , Heterogeneidad Genética , Ligamiento Genético/genética , Adulto , Mapeo Cromosómico , Femenino , Humanos , Masculino , LinajeRESUMEN
The diagnostic accuracy of bubble contrast transthoracic and transesophageal echocardiography and transcranial Doppler sonography in the detection of patent foramen ovale in divers with decompression sickness was assessed. Transcranial Doppler has a better positive and negative predictive value than the other modalities.