RESUMEN
<p><b>OBJECTIVE</b>To examine the clinical features of children with acute lymphoblastic leukemia (ALL) complicated by pulmonary infection after chemotherapy.</p><p><b>METHODS</b>The clinical data of 108 ALL children (115 case-times) with post-chemotherapy pulmonary infection were retrospectively reviewed. The risk factors for pulmonary infection and the relationship between pathogens and chest CT findings were evaluated.</p><p><b>RESULTS</b>The highest incidence (77.4% ) of pulmonary infection occurred during remission induction, peaking at 31-60 days after chemotherapy. Patients with neutropenia had the highest incidence rate of pulmonary infection (67.0%). Bacteria (36%) and fungi (41%) were the two most common pathogens in the 41 patients who were etiologically suspected of or diagnosed with pulmonary infection. There was no significant difference in chest CT findings between patients with bacterial and fungal infections.</p><p><b>CONCLUSIONS</b>The children with ALL are most susceptible to pulmonary infection during remission induction, especially when they are neutropenic. Bacteria and fungi are the main pathogens of pulmonary infections in these patients. However, the changes in chest CT images are poor indicators of the nature of pulmonary infection.</p>
Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras , Quimioterapia , Infecciones del Sistema Respiratorio , Diagnóstico por Imagen , Epidemiología , Microbiología , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
<p><b>OBJECTIVE</b>To analyze the clinical features and genotype in a 8-year-old boy with dyskeratosis congenita (DC).</p><p><b>METHODS</b>We reviewed the clinical data of the case and amplified 7 DC-related genes (including DKC1,TERT,TERC,TINF2,NOP10, NHP2 and WRAP53) using polymerase chain reaction for DNA sequence analysis to identify the abnormal exons.</p><p><b>RESULTS</b>DNA sequence analysis showed a c.85-15T>C mutation in DKC1 gene of the patient. His mother was a carrier of the mutated gene and presented with partial clinical features such as abnormal nails.</p><p><b>CONCLUSION</b>The mutation of c.85-15T>C in DKC1 gene was reported for the first time in China. The diagnosis of DC should be considered if a young patient presents with mucocutaneous abnormalities, bone marrow failure, cancer susceptibility and a family history of cancer. Early genetic tests can improve the diagnosis rates and reduce misdiagnosis and missed diagnosis.</p>
Asunto(s)
Niño , Humanos , Masculino , Proteínas de Ciclo Celular , Genética , China , Disqueratosis Congénita , Genética , Patología , Exones , Genotipo , Mutación , Proteínas Nucleares , Genética , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADNRESUMEN
Differentiated somatic cells can be reprogrammed to a pluripotent state through ectopic expression of specific transcription factors. These reprogrammed cells, which were designated as induced pluripotent stem (iPS) cells, are detected to exhibit unlimited self-renewal capacity and pluripotency. This breakthrough in stem cell research provides a powerful and novel tool for the studies on pathogenesis of diseases, reprogramming mechanism and development of new therapies. For this reason, the iPSC technology has currently become one of the hot topics in stem cells research. Recently, major progress in this field has been achieved: initially, researchers succeeded in inducing the reprogramming of mouse fibroblasts by retroviral transduction of four specific transcription factors; in succession, the accelerated development of iPSC technology by employing non-integrating viral vectors, non-viral vectors or removing the introduced foreign genes via gene knock-out has ensured the yields of much safer iPSC; meanwhile, some researches discovered the proofs that a number of micro molecular compounds were potent in accelerating the cellular reprogramming. For a prospect, iPSC are highly promising for regenerative medicine, disease modeling and drug screening. In this review, the recent progress in the generation of iPSC, prospects of their possible clinical applications and problems in the iPSC research are summarized and discussed.