A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.

Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is often followed by reciprocal duplication. Variations in genomic copy number manifest differently, with duplication and deletions of the same genomic region showing opposite phenotypes. Sotos syndrome is caused by alterations in the dosage of NSD1 on human chromosome 5 by either deletions or mutations, such as microdeletion of 5q35.2q35.3. In general, patients carrying reciprocal microduplication at 5q35.2q35.3 present no clinical phenotype or milder phenotype than do patients with microdeletion at the same locus. We report the first case of 5q35.2q35.3 microduplication encompassing NSD1 in a patient from central Brazil. We identified a genomic imbalance corresponding to a de novo 0.45 Mb microduplication at 5q35.2q35.3 by chromosomal microarray analysis and study of low-copy repeats. The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay. Analysis of the genomic structure of the rearranged 5q35.2q35.3 chromosomal region revealed two major low-copy repeat families, which caused the recurrent rearrangements. Chromosomal microarray analysis is a potential tool to identify microrearrangements and guide medical diagnosis, which has to be followed by a non-directive genetic counseling approach to improve the quality of life of the patient.

Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches.

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of 13qter and the presence of 13q14.3 in the cells with r(13), and chromosome microarray analysis detected a 15.39 Mb deletion in chromosome region 13q32.3-q34. This study is intended as the registry of a rare case of chromosomal rearrangement involving chromosome 13 in Central Brazil. Further studies are needed to define whether genetic haploinsufficiency is associated with each major 13q deletion anomaly.

Proteína bruta e energia metabolizável para codornas de corte de um a 14 dias de idade / Crude protein and metabolizable energy for meat quail from 1 to 14 days of age

Com o objetivo de avaliar diferentes níveis de proteína bruta e de energia metabolizável para codornas de corte de um a 14 dias de idade, foi realizado um estudo utilizando 840 codornas de corte, mistas. As aves foram distribuídas em arranjo fatorial (2x5) constituído por 10 tratamentos (dois níveis de energia metabolizável - 2800 e 3000kcal/kg e cinco níveis de proteína bruta - 22,0; 24,0; 26,0; 28,0 e 30,0por cento), sete repetições com 12 aves cada. Foram avaliados os seguintes parâmetros: consumo de ração, ganho em peso aos sete e 14 dias de idade, conversão alimentar aos 14 dias e viabilidade. Verificou-se que codornas alimentadas com dietas com o nível energético mais baixo, 2800kcal/kg, apresentaram maior consumo. As aves que consumiram ração com menor nível de energia apresentaram maior peso aos sete dias de idade independentemente do nível de proteína bruta utilizado. O peso aos 14 dias de idade apresentou resposta quadrática com o acréscimo de proteína bruta na ração, sendo que dietas contendo 28,86 por cento de PB proporcionaram melhor ganho independentemente do nível de energia utilizado. A conversão alimentar apresentou melhores resultados com o aumento do nível de proteína bruta da ração, independentemente do nível de energia metabolizável utilizado. Não foram observados efeitos significativos dos níveis de proteína e energia ou de sua interação sobre a viabilidade das aves. Rações contendo 30,0 por cento de proteína bruta e 2800 ou 3000kcal/kg de energia metabolizável proporcionam satisfatórios resultados de desempenho para codornas de corte de um a 14 dias de idade...

Aiming to evaluate the effect of different levels of crude protein and metabolizable energy for quails from 1 to 14 days of age, a study was conducted using 840 quails, mixed. The birds were distributed in a factorial arrangement (2x5) consisting of 10 treatments (two levels of metabolizable energy - 2,800 and 3,000kcal/kg and 5 levels of crude protein - 22.0, 24.0, 26.0, 28.0 and 30.0 percent), 7 repetitions with 12 birds each. We evaluated the following parameters: feed intake, weight gain at 7 and 14 days of age, feed conversion at 14 days and viability. It was found that quail fed diets with the lowest energy level, 2,800kcal/kg, showed higher consumption. Birds fed diets with lower energy level had greater weight at 7 days of age regardless of the level of crude protein used. The weight at 14 days of age showed a quadratic response with the addition of crude protein in feed, showing that diets containing 28.86 percent CP provide better gain regardless of the level of energy used. The feed showed better results with the increased level of dietary CP, regardless of level of metabolizable energy used. There were no significant effects of protein and energy levels or their interaction on viability. Diets with 30.0 percent crude protein and 2,800 or 3,000kcal/kg metabolizable energy provide satisfactory performance results for quails from 1 to 14 days of age...

Cytogenetic damage in the buccal epithelium of Brazilian aviators occupationally exposed to agrochemicals.

The frequency of micronuclei in both buccal cells and peripheral blood lymphocytes is extensively used as a biomarker of chromosomal damage and genome stability in human populations. We examined whether prolonged exposure to complex mixtures of pesticides leads to an increase in cytogenetic damage. The exposed group comprised 50 agricultural aviators, mainly from Central and Southeast regions of Brazil, who had inhaled agrochemicals for more than 10 years without personal protection equipment; the control group consisted of 17 men from the same regions, without indication of exposure to pesticides, There were three times higher frequencies of micronuclei (P < 0.05) and 2.5 times higher frequencies of binucleated cells in the aviators when compared to controls. However, cytotoxic alterations such as broken eggs and karyorrhexis did not present statistically significant differences between the exposed and control groups. Therefore, diverse agrochemicals used to combat pests in agriculture possess genotoxic effects in the oral mucosa of the agricultural pilots, as showed in this study.

[Prevalence of tricuspid and aortic valve prolapse in patients with mitral valve prolapse]. / Prevalência de prolapso valvar tricúspide e aórtico em portadores de prolapso valvar mitral.

Two-dimensional echocardiograms were performed in 30 patients with mitral valve prolapse (15 females and 15 males, with an average of 33.3). The main objective was to observe the prevalence of involvement of tricuspid and aortic valves. Tricuspid valve prolapse was observed in 43.3% with anterior and septal involvement in 92.3% and posterior involvement in 15.3%. The incidence of aortic prolapse was 10% with involvement of both right coronary and non-coronary leaflets. All patients with aortic valve prolapse showed involvement of both mitral leaflets and at least two tricuspid leaflets. It is concluded that involvement of other valves such as tricuspid (43.3) and aortic (10%) is a common finding in patients with mitral valve prolapse.