Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.

Complete trisomy 22 is a rare chromosomal condition that is incompatible with life. However, mosaic trisomy 22 usually has prolonged survival compatibility and may present a good prognosis depending on the tissues affected. Herein, we described a male patient with the occurrence of mosaic trisomy 22 associated with the inversion of chromosome 9, with karyotype 47, XY, inv (9) (p11q13), + 22 [5] / 46, XY, inv(9) (p11q13) [45] and arr 22q11.1 ~ q13.33(16,417008-51,219,009)x2 ~ 3. It is not possible to infer, in general, the clinical characteristics associated with mosaic trisomy 22. However, the patient presented common clinical features observed in reported cases (in parentheses the percentage observed comparing all reported cases): facial dysmorphia (100%), delay in motor development/growth (82%), cardiac abnormalities (73%), ear abnormalities (55%) and facial and/or body asymmetry (55%), in addition to hypotonia, skin spots, hypoplastic nails. Given the survival and quality of life associated with multidisciplinary treatment, it can be concluded that the patient has a good prognosis. Conclusively, we're presenting the occurrence of mosaic trisomy 22 and chromosome 9 inversion in the patient with favorable prognosis. Thus, this study proposed a guide which should be inserted in databases of rare genetic conditions to help genetic counselors define mosaic trisomy 22 diagnosis.

Increased DNA Damage, Instability and Cytokinesis Defects in Occupationally Exposed Car Painters.

BACKGROUND/AIM: Car painting is considered an occupational exposure job with high risk for cancer development, due to the association with harmful chemicals and mutagens. This study aimed to profile car painters occupationally exposed and determine its association with DNA damage and genomic instability. MATERIALS AND METHODS: We collected a questionnaire and buccal cells of 74 individuals (37 car painters and 37 non-exposed workers) paired by age, alcohol and smoking habits. The number of pyknotic cells, karyolitic cells, karyorrhetic cells, condensed chromatin, binucleated cells, basal cells, differentiated cells (DIFF), micronucleated cells and nuclear buds were evaluated using the Buccal Micronucleus Cytome Assay protocol. RESULTS: A statistically significant increase was observed in all parameters (p<0.05) in the exposed group, but DIFF showed a statistically significant decrease (p<0.001), compared to the control group. CONCLUSION: In association with the poor work environment and lack of personal and collective protective equipment, occupational exposure of car painters leads to high DNA damage, genomic instability and alterations in cellular kinetics.

Direct and Indirect Anthropogenic Contamination in Water Sources: Evaluation of Chromosomal Stability and Cytotoxicity Using the Allium cepa Test.

Increasing industrialization and urbanization has deteriorated water quality around the world. Nowadays, evaluation of the effects of chemical compounds using bioassays is a critical step in the hazard identification assessment. Thus, this work aimed to determine the genetic damage caused by different types of anthropogenic contamination in a river´s water in Brazil. Two points (P1 and P2) and two periods (referred as direct and indirect anthropogenic contamination) were evaluated in Allium cepa roots. MI was increased (p < 0.05) in both points in the indirect anthropogenic contamination and decreased in the indirect anthropogenic contamination periods. Moreover, parameters as DNA instability (CA and MN) were observed in both periods indicating substances in the water with mutagenic, genotoxic, and cytotoxic potential. Interestingly, a 20-fold increase in CA frequencies were observed in P1 and P2 in the second collection period (direct anthropogenic contamination) (p < 0.05). In conclusion, our data indicated that anthropogenic activities in the area contributed to contaminate this water source. Moreover, direct anthropogenic contamination maximized the damage, posing a possible hazard to population health.

Genotoxic effects of water from São Francisco River, Brazil, in Astyanax paranae.

Aquatic monitoring is an important tool for identifying potential compounds in rivers that may damage the environment. Here, we evaluate the potential genotoxic effects of water samples from São Francisco River (Brazil) using the micronuclei (MN) assay in resident species, Astyanax paranae. Four seasonal collections occurred between the years 2009 and 2010, at three locations between two nearby cities in the region. It was clearly observed an increase of MN frequency in fish caught in the river. This result is most likely due to the sewage contamination from the treatment plant, the waste pesticides from crops and the lack of riparian vegetation along the river, especially during the winter when there was a significant increase in the frequencies of MN. These results indicate that compounds in waters from São Francisco River may have genotoxic effects and consequently, cause damage to the environment as well as to human health.

Evaluation of mutagenicity and antimutagenicity of ilex paraguariensis a. st.-hil.: aquifoliaceae infusion on allium cepa assay / Avaliação de mutagenicidade e de antimutagenicidade da infusão de ilex paraguariensis a. st.-hil.: aquifoliaceae no sistema-teste allium cepa

Yerba mate (Ilex paraguariensis A. St.-Hil.: Aquifoliaceae) is the basis for a hot drink very common in southern Brazil and other countries such as Argentina, Paraguay and Uruguay: the mate. However, the available data about its effect on DNA are still controversial. In this research, we evaluated the mutagenic and antimutagenic activity of mate with the Allium cepa assay, analyzing the frequency of micronucleus (MN), cromossomal aberrations (CA) and the mitotic index (MI) from treatments with mate only and treatments with mate and the positive control Methyl Methanesulfonate (MMS) being administered previously, simultaneously and subsequently. Mate itself did not show mutagenic potential. However, the protocols which MMS was administered simultaneously and subsequently, it potentiated the mutagenic effect of the drug. There was no significant increase in the previous treatment with MMS, indicating that there wasn?t a positive or negative influence of the mate on the DNA repair system and other mechanisms for reversing damage on meristematic cells of Allium cepa. Therefore, our results suggests that substances present in mate can act potentiating mutagenic and carcinogenic agents present in other compounds or perhaps damaging cells barriers from certain substances that harm the genetic material.

A erva-mate (Ilex paraguariensis A. St.-Hil.: Aquifoliaceae) é a base de uma bebida quente muito comum no sul do Brasil e em outros países tais como Argentina, Paraguai e Uruguai. No entanto, os dados disponíveis sobre seu efeito no DNA são ainda controversos. Nesta pesquisa, nós avaliamos a atividade mutagênica e antimutagênica do mate no sistema teste de Allium cepa, analisando a frequência de micronúcleos (MN), aberrações cromossômicas (CA) e o índice mitótico (MI) de tratamentos somente com mate e tratamentos com mate e o controle positivo Metil Metano Sulfonase (MMS) sendo administrado anteriormente, simultaneamente e posteriormente. O mate sozinho não apresentou potencial mutagênico. Porém, nos protocolos com MMS sendo administrados simultaneamente e posteriormente, o mate potencializou o efeito mutagênico da droga. Não houve aumentos significativos nos protocolos de tratamento anterior com MMS, indicando que não houve uma influência positiva ou negativa do mate no sistema de reparo de DNA ou outros mecanismos de reversão dos danos nas células meristemáticas da cebola. Desta forma, nossos resultados sugerem que substâncias presentes no mate podem agir potencializando agentes mutagênicos e carcinogênicos presentes em outros compostos ou talvez possam danificar as barreiras celulares a certos compostos que agridem o material genético.

Glutathione S-transferase Mu (GSTM1) null genotype in relation to gender, age and smoking status in a healthy Brazilian population

The glutathione S-transferase mu (GSTM1) gene which acts during phase II of xenobiotic metabolism is polymorphic in the population, being absent in about 30-50 percent of individuals depending on the ethnic group from which they come. Epidemiological studies suggest that individuals who are homozygous null at the GSTM1 locus may have an increased risk of developing various types of neoplastic disease. We used the polymerase chain reaction (PCR) to estimate the frequency of GSTM1 in 176 healthy individuals from the north of Paraná (Brazilian state), the null genotype being detected in 48.86 percent of these individuals. The Student's t-test was used to evaluate the frequency of the glutathione S-transferase null genotype in relation to age, gender and smoking habit and no significant differences were found. In our sample there were 142 individuals of Caucasian origin, of which 47.88 percent had the null genotype. When applied to the Caucasian group only (n = 142) the Student's t-test again showed no significant differences between the frequency of the GSTM1 null genotype and age, gender and smoking habit