ABSTRACT
OBJECTIVES: To establish the frequency of JAK2, MPL and CALR mutations in Argentinean patients with BCR-ABL1-negative myeloproliferative neoplasms (MPN) and to compare their clinical and haematological features. METHODS: Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF). RESULTS: In 94.9% of PV, 85.5% ET and 85.2% PMF, we found mutations in JAK2, MPL or CALR. 74.9% carried JAK2V617F, 12.3% CALR mutations, 2.1% MPL mutations and 10.7% were triple negative. In ET, nine types of CALR mutations were identified, four of which were novel. PMF patients were limited to types 1 and 2, type 2 being more frequent. DISCUSSION: In ET, patients with CALR mutation were younger and had higher platelet counts than those with JAK2V617F and triple negative. In addition, JAK2V617F patients had high leucocyte and haemoglobin values compared with CALR-mutated and triple-negative patients. In PMF, patients with mutant CALR were associated with higher platelet counts. CONCLUSION: Our study underscores the importance of JAK2, MPL and CALR genotyping for accurate diagnosis of patients with BCR-ABL1-negative MPN.
Subject(s)
Calreticulin/genetics , Fusion Proteins, bcr-abl/genetics , Janus Kinase 2/genetics , Mutation , Myeloproliferative Disorders/genetics , Receptors, Thrombopoietin/genetics , Aged , Argentina , Calreticulin/metabolism , Female , Fusion Proteins, bcr-abl/metabolism , Humans , Janus Kinase 2/metabolism , Male , Middle Aged , Myeloproliferative Disorders/blood , Myeloproliferative Disorders/metabolism , Receptors, Thrombopoietin/metabolismABSTRACT
Esta investigación tuvo el objetivo de probar un sistema integral para enseñar a niños con el diagnóstico de autismo. Tres niños recibieron enseñanza intensiva durante aproximadamente tres meses, con programas adaptados individualmente a su nivel funcional. Esos programas se habían demostrado eficaces, en investigaciones anteriores, para enseñar a niños con problemas de aprendizaje o se derivaron de principios básicos de aprendizaje. Evaluamos constantemente la eficacia de cada programa con cada niño, y sustituimos inmediatamente los programas menos efectivos por otros eficaces. Los tres niños aprendieron aproximadamente una habilidad por cada hora de enseñanza. Aprendieron más habilidades por hora cuando la intervención fue intensiva; esto muestra que un programa intensivo incrementa la efectividad de la intervención. En conjunto, este sistema se mostró efectivo para enseñar habilidades a niños con autismo, lo cual supuso mejorar su calidad de vida y la de sus familiares. Este sistema puede ser aplicado en los colegios de educación especial
The purpose of this research was to test a comprehensive system to teach skills to children diagnosed with autism. Three children received intensive teaching during three months, approximately. Each child received a daily set of programs tailored to his/her functional level. These programs had been demonstrated effective in previous studies to teach children with learning difficulties. Other programs were derived from basic learning principles. We evaluated on a continuous basis the effectiveness of each program with each child, so that the programs that were not effective were replaced by others with more detailed procedures. The three children learned about one skill for every hour of teaching. They learned more skills per hour when the intervention was intensive; this outcome shows that an intensive program increases the effectiveness of the intervention. In all, this system was demonstrated to be effective to teach skills to children with autism. Thus, it served to increase childrens quality of life and that of their families. The present intervention can be applied to schools of special education
