RESUMO
We compared the clinical severity associated with the two cystic fibrosis [CF] mutations S549R[T[R]G] and deltaF508. Clinical and biochemical variables of CF were compared in two age- and sex-matched groups of CF children in the United Arab Emirates [UAE]. The clinical severity of mutations S549R[T[R]G] and delta F508 showed comparable patterns, with very low Shwachman scores and high sweat chloride levels. We conclude that patients homozygous for the CF mutations deltaF508 and S549R[T[R]G] have a severe clinical presentation and illness and are indistinguishable on clinical grounds
Assuntos
Substituição de Aminoácidos , Pré-Escolar , Cloretos , Regulador de Condutância Transmembrana em Fibrose Cística , Mutação , Fenótipo , Índice de Gravidade de Doença , Fibrose CísticaRESUMO
We examined and sampled 45 patients with toe-web intertrigo for bacteriological and mycological studies. Prominent isolated pathogens were the genus Candida [57.7%], genus Aspergillus [28.8%], Pseudomonas aeruginosa [26.7%] and coliforms [24.4%]. Dermatophytes scored 4.4% [Trichophyton rubrum]. There were 43 patents [95.5%] who presented with marked hyperkeratosis and maceration of the toe-webs involved. The tradition of the Emirati population of sitting cross-legged may, over time, induce in the toe-webs of overweight individuals a macerated pressure-reaction hyperkeratosis that is colonized by environmental germs. T. rubrum and T. mentagrophytes are uncommon in the Al-Ain environment and this may explain the rarity of dermatophytes in toe-web intertrigo in our study