RESUMO
The objective of this study was to determine the prevalence of hereditaryataxias in Cuba, with a specialfocus on the clinical and molecular features of SCA2. Clinical assessmentswere performed by neurologicalexaminations and application of the SARA scale. Molecular analyses ofgenes SCA13, SCA6, SCA17and DRPLA identified 753 patients with SCA and 7173 asymptomaticrelatives, belonging to 200 unrelatedfamilies. 86.79 percent of all SCA patients were affected with SCA2. In the Holguin province, the averagepopulation prevalence of SCA2 is 40.18×105 inhabitants, with theremarkable figure of 141.66×105 inthe Baguanos municipality. The high prevalence of the SCA2 mutation inHolguin reflects most likelya founder effect. The stabilization of the prevalence along time suggeststhe existence of premutatedchromosomes with pure CAG, acting as reservoir for further expansions. CAGrepeat length correlatedinversely with age at onset, accounting for 80 percent of the variability. Genetic anticipation was observed in the 80 percent of transmissions. Repeat instability was greater in paternaltransmissions whereas CAG expansionswithout anticipation was observed in 10.97 percent suggesting the effect of CAA interruptions in the CAGsegment, which decrease the toxicity of the abnormal ataxin-2, and/orother protective factors...(AU)
Assuntos
Humanos , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/genética , Degenerações EspinocerebelaresRESUMO
The objective of this study was to determine the prevalence of hereditary ataxias in Cuba, with a special focus on the clinical and molecular features of SCA2. Clinical assessments were performed by neurological examinations and application of the SARA scale. Molecular analyses of genes SCA1-3, SCA6, SCA17 and DRPLA identified 753 patients with SCA and 7173 asymptomatic relatives, belonging to 200 unrelated families. 86.79% of all SCA patients were affected with SCA2. In the Holguin province, the average population prevalence of SCA2 is 40.18x10(5) inhabitants, with the remarkable figure of 141.66x10(5) in the Baguanos municipality. The high prevalence of the SCA2 mutation in Holguin reflects most likely a founder effect. The stabilization of the prevalence along time suggests the existence of premutated chromosomes with pure CAG, acting as reservoir for further expansions. CAG repeat length correlated inversely with age at onset, accounting for 80% of the variability. Genetic anticipation was observed in the 80% of transmissions. Repeat instability was greater in paternal transmissions whereas CAG expansions without anticipation was observed in 10.97% suggesting the effect of CAA interruptions in the CAG segment, which decrease the toxicity of the abnormal ataxin-2, and/or other protective factors.
Assuntos
Efeito Fundador , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/genética , Adolescente , Adulto , Idade de Início , Idoso , Antecipação Genética , Criança , Pré-Escolar , Cuba/epidemiologia , Feminino , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/genética , Prevalência , Índice de Gravidade de Doença , Expansão das Repetições de Trinucleotídeos , Adulto JovemRESUMO
Se estudió la eficacia de la oxigenación hiperbárica como terapia complementaria en la Dermatitis Atópica del Adulto en el Servicio de Dermatología del Hospital VI Lenin en el período 1994-2003, utilizando el método prospectivo.El dato primario se obtuvo de la historia clínica de los pacientes y de los Dptos. de Oxigenación Hiperbárica del Hospital VI Lenin. La evolución clínica fue realizada al quinto, décimo, treinta, 90 días y anualmente hasta los 9 años.Se estudió la distribución por sexo, edad, extensión de las lesiones, evolución clínica, número de sesiones y ciclos recibidos, efectos adversos, trastornos psicopatológicos antes y después del tratamiento.Después de 9 años de observación vemos que la evolución es satisfactoria en el 90 por ciento de los enfermos, con desaparición del prurito, el insomnio y las lesiones cutáneas.El tratamiento con Oxigenación Hiperbárica como terapia complementaria en la dermatitis Atópica del Adulto, resulta beneficiosa(AU)