Asunto(s)
Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/genética , ADN Tumoral Circulante/sangre , Inhibidores de las Quinasa Fosfoinosítidos-3 , Inhibidores de Proteínas Quinasas/uso terapéutico , Neoplasias de la Mama/sangre , Neoplasias de la Mama/enzimología , ADN Tumoral Circulante/genética , Femenino , Humanos , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
In a subset of patients with cystic fibrosis (CF), nonsense mutations (premature stop codons) disrupt production of full-length, functional CF transmembrane conductance regulator (CFTR). Ataluren (PTC124) allows ribosomal readthrough of premature stop codons in mRNA. We evaluated drug activity and safety in patients with nonsense mutation CF who took ataluren three times daily (morning, midday and evening) for 12 weeks at either a lower dose (4, 4 and 8 mg·kg(-1)) or higher dose (10, 10 and 20 mg·kg(-1)). The study enrolled 19 patients (10 males and nine females aged 19-57 yrs; dose: lower 12, higher seven) with a classic CF phenotype, at least one CFTR nonsense mutation allele, and an abnormal nasal total chloride transport. Both ataluren doses were similarly active, improving total chloride transport with a combined mean change of -5.4 mV (p<0.001), and on-treatment responses (at least -5 mV improvement) and hyperpolarisations (values more electrically negative than -5 mV) in 61% (p<0.001) and 56% (p = 0.002) of patients. CFTR function was greater with time and was accompanied by trends toward improvements in pulmonary function and CF-related coughing. Adverse clinical and laboratory findings were uncommon and usually mild. Chronic ataluren administration produced time-dependent improvements in CFTR activity and clinical parameters with generally good tolerability.
Asunto(s)
Codón sin Sentido , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/tratamiento farmacológico , Fibrosis Quística/genética , Oxadiazoles/uso terapéutico , Adulto , Codón de Terminación , Tos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Ribosomas/fisiología , Resultado del TratamientoRESUMEN
Myelodysplasia with refractory anemia is associated with transfusion dependence.
Asunto(s)
Transfusión Sanguínea , Mesotelioma/terapia , Síndromes Mielodisplásicos/terapia , Talco/administración & dosificación , Talco/uso terapéutico , Anciano , Femenino , Humanos , Mesotelioma/tratamiento farmacológico , Síndromes Mielodisplásicos/tratamiento farmacológico , Pleurodesia , Talco/farmacologíaRESUMEN
Two patients are reported with hemolytic anemia due to red blood cell fragmentation in association with prosthetic heart vales. They were treated with erythropoietin which eliminated the need for packed red blood cell transfusion.