Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome

We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. The different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. The association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS. (C) 2002 Elsevier B.V. Ltd. All rights reserved.

Aneuploidies, deletion, and overexpression of TP53 gene in intestinal metaplasia of patients without gastric cancer

Gastric carcinogenesis is attributable to interacting environmental and genetic factors, through a sequence of events including intestinal metaplasia. Using a fluorescence in situ hybridization technique, we investigated the occurrence of ancuploidies of chromosomes 3, 7, 8, 9, and 17, TP53 gene deletion, and expression of p53 in 21 intestinal metaplasia (IM) samples from cancer-free patients and in 20 gastric adenocarcinoma samples. Aneuploidies were found in 71% (15/21) of the IM samples. Trisomy of chromosomes 7 and 9 occurred mainly in complete-type IM; in the incomplete type, trisomy of chromosomes 7 and 8 were more commonly found. The TP53 gene deletion was observed in 60% (3/5) of the IM cases, and immunohistochemistry revealed p53 overexpression in 12% (2/17) of the analyzed IM cases. All gastric adenocarcinoma cases presented higher frequencies of trisomy or tetrasomy of chromosomes 3, 7, 8, 9, and 17. The TP53 deletion was found in all three of the gastric adenocarcinoma analyzed for it, and immunohistochemistry detected overexpression of protein p53 in 80% (12/15) of the analyzed cases. Our study revealed for the first time the presence of aneuploidies of chromosomes 7, 8, 9, and 17 and of TP53 gene deletion and overexpression in IM samples from cancer-free patients. These results suggest that IM and gastric adenocarcinoma may share the same genetic alterations. (C) 2004 Elsevier B.V. All rights reserved.

ALTERATIONS IN THE OMMATIDIA OF THE COMPOUND EYES OF APIS-MELLIFERA EYE-COLOR MUTANT WORKERS .3.

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

COMPARATIVE STUDIES ON PIGMENT GRANULES AND PIGMENT DISTRIBUTION IN THE COMPOUND EYES OF WILD-TYPE AND MUTANT WORKER HONEYBEES .2. AN ULTRASTRUCTURAL ANALYSIS

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Interstitial long-arm deletion of chromosome 7 and ectrodactyly

An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.

A case of terminal long arm deletion of chromosome 6

A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck and cardiopathy.

Gel'fand-Levitan equation for deletion of states from Coulomb spectra

The Gel'fand-Levitan formalism is used to study how a selected set of bound states can be eliminated from the spectrum of the Coulomb potential and also how to construct a bound state in the Coulomb continuum. It is demonstrated that a sizeable quantum well can be produced by deleting a large number of levels from the s spectral series and the edge of the Coulomb potential alone can support the von Neumann-Wigner states in the continuum. © 1998 Elsevier Science B.V.

Cellulolytic activity of wild type and mutant Trichoderma pseudokoningii

Strains of Trichoderma pseudokoningii are promising objects for genetic studies and cellulase production. Auxotrophic mutants with deficiencies in the biosynthesis of aminoacids, nucleotides and vitamins (up to five markers) in addition to morphological aspects like conidial colour were obtained from two strains of double auxotrophic mutants using UV radiation. In order to compare the cellulolytic capabilities of the T. pseudokoningii (wild type strain), some of its mutants and T. reesei QM9414 we performed semiquantitative cellulase assays and quantitative determination of the enzymes exoglucanase and endoglucanase. The semiquantitative test showed that the strains with minimal mycelial growth rate were better producers. Both tests revealed that two of the studied mutants, TG3 and TG4 presented a yield higher than the wild type, reaching 30% more exoglucanase and 70% more endoglucanase. These results indicate that the wild type was improved for cellulase production. Highly significant values of correlation were found for exoglucanase and endoglucanase activities, suggesting that these enzymes may be co-regulated in T. pseudokoningii.

Chromosome damage induced by 5-azacytidine under the influence of caffeine or cytosine arabinoside in CHO-K1 (wild-type) and XRS-5 (mutant) cell lines

5-azacytidine (5-azaC) treatment combined with cytosine arabinoside (ara-C) or caffeine were performed in vitro in Chinese hamster cells, CHO-K1 (wild-type) and xrs-5 (mutant) cell lines, in order to compare the cell response to the induction of chromosomal aberrations. Exponentially growing cells were treated with 5-azaC (4-16 uM) for 1 h, the cells were washed and incubated for 7 h, and 500 uM caffeine or 5 uM ara-C were added to the cultures for the last 2 h. In both cell lines, 5-azaC induced a significantly increase (P<0.01) in the frequencies of aberrations; in the combined treatments (5-azaC + Ara-C), a significant reduction (P<0.05) was observed for the aberrations which were randomly distributed. Caffeine had no influence at the same conditions. 5-azaC induced-DNA lesions were probably processed at S/G2 phase in a common pathway in both cell lines, but alternatively, 5-azaC may cause xrs-5 cells to revert to the wild-type.

Participation of genes involved in the process of anaerobic respiration of infection in chickens by salmonella typhimurium

Intestinal pathogens are exposed to various stress conditions during their infectious cycle. Anaerobiosis, one of such hostile condition, is offered by the host within gut and intestinal lumen, where survival, multiplication and entry into intestinal epithelial cells are priority for the invasion of the pathogen. The fumarate reductase (frdABCD), dimethyl sulfoxide (DMSO)-trimethylamine N-oxide (TMAO) reductase (dmsABC), and nitrate reductase (narGHIJ) operons in Salmonella Typhimurium (STM) encode enzymes involved in anaerobic respiration to the electron acceptors fumarate, DMSO, TMAO, and nitrate, respectively. They are regulated in response to nitrate and oxygen availability and changes in cell growth rate. Vitamin B12 (cobalamin) is synthesized by Salmonella Typhimurium only under anaerobic growth conditions used as a cofactor in four known reactions. The deletion of cobS and cbiA genes prevent any form of cobalamin production. In the present study we evaluate the infection of birds by mutants of STM, with the anaerobic respiratory system committed by mutations in the genes: narG, napA, cobS, cbiA, frdA, dmsA, and torC. Virulence was assessed by oral inoculation of groups of one-day-old broilers with 0.1 mL of culture contained 10 8 colony forming units (CFU)/mL or diluted at 10 -3 and 10 -2 of strains mutants of Salmonella Typhimurium. Clinical signs and mortality were recorded over a period of 21 days. In general, the symptoms of chickens infected with the mutant strains were similar to those presenting by control birds. Except for STMNalr cbiA, all showed reduced capacity to cause mortality in comparison with the original strain. The mortality of group of chickens infected with STMNal r △narG, STMNal r △frdA, STMNal r △dmsA and STMNal r △cobS△cbiA showed significant decrease in mortality compared to control group (p<0.05).

Experimental infection of commercial layers with wild or attenuated Salmonella Gallinarum mutant strains: Anatomic pathology, total blood cell count and serum protein levels

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)