RESUMO
OBJECTIVE: In this study we aimed to evaluate whether there is a link between circulating 25-OH-D levels and molecular response in chronic myeloid leukemia (CML). MATERIAL AND METHOD: A total of 61 patients with CML (31 women, 30 men) were recruited in this cross-sectional study. RESULTS: Binary logistic regression analysis demonstrated that increased vitamin D levels were independently associated with molecular response in subjects with CML. CONCLUSION: Our results indicated for the first time in the literature that severe deficiency of vitamin D was independently associated with molecular unresponsiveness in subjects with CML. 25-OH-D may be contributing to molecular response in the patients (Tab. 3, Ref. 24).
Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva , Deficiência de Vitamina D , Vitamina D , Calcifediol , Estudos Transversais , Feminino , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/sangue , Leucemia Mielogênica Crônica BCR-ABL Positiva/terapia , Masculino , Vitamina D/sangueRESUMO
The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.
Assuntos
Cromossomos Humanos X/genética , Genótipo , Disgenesia Gonadal Mista/genética , Cariotipagem , Mosaicismo , Aberrações dos Cromossomos Sexuais , Síndrome de Turner/genética , Adolescente , Feminino , Disgenesia Gonadal Mista/sangue , Disgenesia Gonadal Mista/diagnóstico , Hematócrito , Hemoglobinometria , Humanos , Menorragia/sangue , Menorragia/genética , Fenótipo , Síndrome de Turner/sangue , Síndrome de Turner/diagnósticoRESUMO
The co-occurrence of two numerical chromosomal abnormalities in same individual (double aneuploidy) is relatively rare and the clinical presentations are variable depending on the predominating aneuploidy or a combination effect of both. Furthermore, double aneuploidy involving both autosomal and sex chromosomes is seldom described. We describe a male patient with typical clinical features of Down Syndrome and his karyotype revealed 48,XXY,+21. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.