Asunto(s)
Antibacterianos/uso terapéutico , Dermatitis Seborreica/inmunología , Enfermedad Granulomatosa Crónica/complicaciones , NADPH Oxidasas/genética , Infecciones Estafilocócicas/inmunología , Análisis Mutacional de ADN , Dermatitis Seborreica/diagnóstico , Dermatitis Seborreica/tratamiento farmacológico , Dermatitis Seborreica/microbiología , Susceptibilidad a Enfermedades/inmunología , Quimioterapia Combinada/métodos , Femenino , Enfermedad Granulomatosa Crónica/diagnóstico , Enfermedad Granulomatosa Crónica/genética , Enfermedad Granulomatosa Crónica/inmunología , Humanos , Índice de Severidad de la Enfermedad , Hermanos , Infecciones Estafilocócicas/diagnóstico , Infecciones Estafilocócicas/tratamiento farmacológico , Infecciones Estafilocócicas/microbiología , Staphylococcus aureus/aislamiento & purificación , Resultado del Tratamiento , Adulto JovenRESUMEN
Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0) and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.
RESUMEN
OBJECTIVE: To assess whether vitamin A deficiency alters the recovery of total respiratory resistance (TRR) following acute upper respiratory tract infection (URI). METHODS: This is a case control study of children, age 4-6 years and grouped as: URI, (n = 74), URI and wheezing, (URI-wheezing, n = 52), and healthy controls (n = 51). Vitamin A and total respiratory resistance (TRR) were assessed using the modified relative dose response (MRDR) and forced oscillometry, respectively. RESULTS: Children with URI and URI-wheezing had lower retinol, 32.4 ± 13.12 and 18.3 ± 6.83 µg/dl respectively, compared to controls, 56.9 ± 29.82 µg/dl (ANOVA, P < 0.001). The MRDR was elevated in children in the URI or URI-wheezing groups 0.066 ± 0.045 and 0.021 ± 0.021, respectively, compared to controls 0.007 ± 0.006 (ANOVA, P < 0.0001). The TRR in the URI and URI-wheezing groups differed from controls. During convalescence, the TRR failed to decline in the URI-group only when the MRDR was >0.06. In the URI-wheezing group, TRR declined independently of retinol and MRDR. CONCLUSION: Vitamin A contributes to preservation of airway function during and in recovery after upper respiratory infection in children.