Research Article

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Gene expression profile; Myelodysplastic syndrome; Refractory anemia with excess blasts; Serial analysis of gene expression methodology

The molecular pathogenesis of myelodysplastic syndromes (MDS) is poorly understood. In order to expand our knowledge of genetic defects in MDS, we determined the overall profile of genes expressed in bone marrow from patients with refractory anemia with excess blasts (RAEB) by serial analysis of gene expression (SAGE). The present report describes a partial transcriptome of RAEB bone marrow ... more

C.F. Mendiburu; W.A. Silva; O. Ricci; C.R. Bonini-Domingos; A.C. Fett-Conte
Myelodysplastic syndrome; RAP1GAP; Real-time PCR

To find the underlying causes of primary myelodysplastic syndrome (MDS), the gene expression profiling of both CD34+ cells and bone marrow mononuclear cells from MDS patients was performed using oligonucleotide microarray and cDNA microarrays, respectively. Several candidate genes which were differentially expressed in MDS patients versus normal controls were selected and confirmed in ... more

X. Qi; Z. Chen; J. Qian; J. Cen; M. Gu
Clonal chromosomal abnormalities; Monosomy 21; Myelodysplastic syndrome

This study reports on a cytogenetic finding in a bone marrow examination of a 47-year-old male patient treated in the Hematology and Blood Transfusion Service of the Hospital de Base in São José do Rio Preto, São Paulo State, Brazil. The only alteration found at diagnosis of myelodysplastic syndrome (MDS) subtype refractory anemia with excess blasts (RAEB-2) was clonal monosomy of chromosome ... more

P.C. Freitas; A.B. Carvalho-Salles; C.F. Mendiburu; O. Ricci; A.C. Fett-Conte
Functional enrichment analysis; Hereditary hemochromatosis; Iron overload; Module analysis; Myelodysplastic syndrome

The aim of this study was to identify feature genes that are associated with hereditary hemochromatosis (HHC; iron overload) in cardiac and skeletal muscle of mice. First, the expression profile GSE9726 was downloaded from Gene Expression Omnibus database which included 12 samples. Then the differentially expressed genes (DEGs) were identified by R language. Furthermore, the KUPS software ... more

J. Wang; X. Zhou; J. Zhao; Z. Li; X. Li
Heme oxygenase-1; Methyltransferase; Myelodysplastic syndrome; p15

We evaluated the influence of heme oxygenase-1 (HO-1) gene inhibition in myelodysplastic syndrome (MDS) cell line SKM-1 on enhancement of the demethylating effects of decitabine on p15, and explored the possible mechanism. DNMT1 gene expression in SKM-1 cells was silenced by being transfected by a constructed siRNA with liposomes. The proliferation inhibition rates after drug ... more

R. Gao; D. Ma; P. Wang; J. Sun; J.S. Wang; Q. Fang
Ascending aorta; Connective tissue disorders; Mimicking; Phenotypes

We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was ... more

S.T. Onrat; M. Emmiler; Y. Sıvacı; Z. Söylemez; A. Özgöz; N. Imirzalıoğlu
Allergic rhinitis; ARIA classification; Children; Phenotypes; Risk factors; Serum-specific IgE

The aims of the current study were to assess the clinical features of allergic rhinitis (AR) in children in Shanghai. Serum-specific IgE (sIgE) tests were performed on samples from patients with AR symptoms from January 2011 to December 2014. A disease-related questionnaire was completed after AR diagnosis. The allergen profile and clinical features of AR were analyzed. In total, 2713 AR ... more

S. He; Y.J. Li; J. Chen; S. He; Y.J. Li; J. Chen
Karyotype; Marker chromosome; Small supernumerary marker chromosomes; Spontaneous abortion

We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non- ... more

M. Balkan; H. İsi; H. İsi; A. Gedik; M. Erdemoğlu; T. Budak
4'; 6-diamidino-2-phenylindole; Chromomycin A3; Fluorescence in situ hybridization; Heptapteridae; Karyotype; Nucleolar organizer regions

We cytogenetically characterized three species of Hep­tapteridae (Pimelodella sp, Pimelodella taenioptera, and Imparfinis schubarti) by investigating the distribution of constitutive heterochro­matin and nucleolar organizer regions by silver nitrate impregnation (Ag-NOR) and fluorescence in situ hybridization. Pimelodella sp showed had a diploid ... more

L.M. Barbosa; G.E.B. Ferreira; A.C. Prizon; A.L.B. Portela-Castro; I.C. Martins-Santos
Chromosome number; Karyotype; Lycoris radiata; Ploidy

Lycoris radiata is an important medicinal and ornamental plant of China. In the present study, somatic chromosome counts and karyotype analyses, which are important aspects of plant phylogeny and evolution, were performed in 466 individuals from 25 L. radiata populations by root tip squash method. Chromosome counts revealed that 10 populations were diploid (2n = 2x = 22 ... more

Y.X. Liu; Y.H. Zheng; T. Xia; J. Zhou; Y.X. Liu; Y.H. Zheng; T. Xia; J. Zhou