RESUMO
HLA-DQB1*03:457 differs from HLA-DQB1*03:02:01:01 by a non-synonymous nucleotide substitution in codon 95, changing valine to glutamic acid.
Assuntos
Transplante de Rim , Alelos , Cadeias beta de HLA-DQ/genética , Humanos , República da CoreiaRESUMO
The novel HLA-C*03:539 allele differs from HLA-C*03:04:01:01 by one nucleotide substitution at codon 26.
Assuntos
Antígenos HLA-C , Transplante de Rim , Alelos , Genes MHC Classe I , Antígenos HLA-C/genética , Humanos , Análise de Sequência de DNA , TransplantadosRESUMO
BACKGROUND: Anemia is a common cause among the elderly for increased mortality. Hemoglobin concentration can be affected by many factors, but the reference interval defined by the World Health Organization has not been adjusted for the previous half century. METHODS: Through using the dataset generated by the National Health Insurance (NHI) health screening program of Republic of Korea, here we attempt to present a close to actual hemoglobin concentration of the Korean population. Between January 2009 and December 2013, a total of 57,409,872 health screening events were registered in the NHI database. Following the exclusion criteria, 6,759,566 participants were enrolled for analyses. RESULTS: Significant portion of the study population was considered 'anemic', while the mean value (2.5% ~ 97.5%) of hemoglobin concentration from the study was 14.8 (12.5 ~ 16.8) g/dL in men and 12.8 (10.6 ~ 14.7) g/ dL in women. Concordant results of hemoglobin concentration declining with age were observed as previous studies have described, supporting the need for separate, possibly lower cutoff in the elderly. CONCLUSIONS: A considerable portion of the participants being categorized as anemia contests the accuracy of the current lower cutoff for anemia. From a large representative dataset, the need for adjustment to the lower cutoff for anemia is suggested.
Assuntos
Anemia/sangue , Hemoglobinas/análise , Programas de Rastreamento/métodos , Programas Nacionais de Saúde/estatística & dados numéricos , Sistema de Registros/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Anemia/diagnóstico , Anemia/etnologia , Povo Asiático/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , República da Coreia , Adulto JovemAssuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 3 , Fusão Gênica , Rearranjo Gênico , Leucemia Mieloide Aguda/genética , Proteína do Locus do Complexo MDS1 e EVI1/genética , Proteínas Proto-Oncogênicas c-ets/genética , Proteínas Repressoras/genética , Translocação Genética , Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Predisposição Genética para Doença , Humanos , Cariotipagem , Leucemia Mieloide Aguda/induzido quimicamente , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Fenótipo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Variante 6 da Proteína do Fator de Translocação ETSRESUMO
The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.
