RESUMEN
Neutropenia and infection are major dose-limiting side effects of chemotherapy. The risk of initial infection and subsequent complications are directly related to the depth and duration of neutropenia. Recent genome-wide association studies identified variants in DARC and CXCL2 genes, and in ORMDL3-GSDMA-CSF3 locus on chromosome 17q21 that influence white blood cell and neutrophil counts in healthy individuals. To investigate whether polymorphisms in these loci in conjunction with chemotherapy may modulate risk of treatment complications, we analyzed 21 SNPs across these genes for an association with chemotherapy-related neutropenia and infection in 286 Caucasian children with acute lymphoblastic leukemia. After correction for multiple testing, DARC polymorphism rs3027012 in 5'-UTR was associated with higher risk of low absolute phagocyte count (APC<500 and <1000 cells per microliter, P=0.001 and P<0.0005, respectively) and hospitalization due to febrile neutropenia (P=0.002). Protective effect was instead seen for DARC rs12075 A to G substitution (P=0.004). The SNP rs3859192 in the GSDMA were associated with hospitalization due to infection (P=0.004); infection was also modulated in the additive manner by the CXCL2 rs16850408 (P=0.002). This study shows for the first time that the variations in DARC, GSDMA and CXCL2 genes may play a role in the onset of chemotherapy complications.
Asunto(s)
Antineoplásicos/efectos adversos , Neutropenia/genética , Polimorfismo de Nucleótido Simple/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Antineoplásicos/sangre , Quimiocina CXCL2/genética , Niño , Sistema del Grupo Sanguíneo Duffy/genética , Humanos , Recuento de Leucocitos/tendencias , Proteínas de Neoplasias/genética , Neutropenia/sangre , Neutropenia/inducido químicamente , Neutrófilos/efectos de los fármacos , Neutrófilos/fisiología , Variantes Farmacogenómicas/efectos de los fármacos , Variantes Farmacogenómicas/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/sangre , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Receptores de Superficie Celular/genéticaRESUMEN
Brainstem auditory evoked potentials were done in 10 healthy full-term newborns and 10 high risk newborns. Absolute latencies of waves I, III and V as well as interwave intervals I-V were measured. In relation to the values in healthy newborns the prolonged latencies of waves I, III and V were found in the group of high risk newborns. The prolonged latency of wave shows the decreased velocity of conduction, as a result of normal axonal transport.
Asunto(s)
Potenciales Evocados Auditivos del Tronco Encefálico , Trastornos de la Audición/diagnóstico , Humanos , Recién Nacido , Valores de Referencia , Factores de RiesgoRESUMEN
Two cases of skeleton malformations found by ultrasonic diagnostics are described. One was osteogenesis imperfecta and other achondroplasia. The possibility of malformation was postulated in 36th gestation week in the first case, and in 37th gestation week in the second. The authors discuss on malformations and their early diagnosis.