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1.
Clin Case Rep ; 9(1): 210-212, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33489161

RESUMO

Primary breast tuberculosis is an uncommon disease, especially in nonendemic areas. Its presentation could mimic a cancer or an abscess, but this entity must be considered for differential diagnosis in women coming from endemic countries.

2.
Leuk Lymphoma ; 55(7): 1538-43, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24047476

RESUMO

Therapy-related myeloid neoplasms (t-MNs) are an increasingly recognized complication in patients previously treated with radiotherapy and/or chemotherapy for cancer or autoimmune disease. Single nucleotide variants (SNVs) in genes involved in the cellular pathways of detoxification, DNA repair and apoptosis may modify the individual risk of developing a t-MN. We studied the frequency of the SNVs of six genes involved in xenobiotic detoxification (CYP3A4, NQO1, GSTA1, GSTM1, GSTP1 and GSTT1), two DNA repair genes (RAD51 and XRCC3) and one key regulator of apoptosis (BCL2L10) in a case-control study including 111 cases of t-MN and 259 controls. This is the first report on the prevalence of BCL2L10 Leu21Arg polymorphism in myeloid malignancies. In this line, we also tested 146 cases of de novo myelodysplastic syndrome (MDS) and 109 cases of de novo acute myeloid leukemia (AML). Our results showed a significantly lower frequency of the BCL2L10-21Arg allele in patients with t-MN and de novo MDS compared to controls (Leu/Arg + Arg/Arg: 50.6% vs. 65.9%, p = 0.017 and 45.8% vs. 65.9%, p = 0.0003, respectively). Carriers of the BCL2L10-21Arg variant have a reduced risk of developing t-MN and de novo MDS.


Assuntos
Leucemia Mieloide Aguda/etiologia , Mutação , Síndromes Mielodisplásicas/etiologia , Segunda Neoplasia Primária/etiologia , Proteínas Proto-Oncogênicas c-bcl-2/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Substituição de Aminoácidos , Medula Óssea/patologia , Estudos de Casos e Controles , Análise Mutacional de DNA , Feminino , Frequência do Gene , Genótipo , Humanos , Leucemia Mieloide Aguda/diagnóstico , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/diagnóstico , Segunda Neoplasia Primária/diagnóstico , Razão de Chances , Polimorfismo Genético , Risco , Adulto Jovem
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