Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders

The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.

Internal genetic structure and outcrossing rate in a natural population of Araucaria angustifolia (Bert.) O. Kuntze

The internal genetic structure and outcrossing rate of a population of Araucaria angustifolia (Bert.) O. Kuntze were investigated using 16 allozyme loci. Estimates of the mean number of alleles per loci (1.6), percentage of polymorphic loci (43.8%), and expected genetic diversity (0.170) were similar to those obtained for other gymnosperms. The analysis of spatial autocorrelation demonstrated the presence of internal structure in the first distance classes (up to 70 m), suggesting the presence of family structure. The outcrossing rate was high (0.956), as expected for a dioecious species. However, it was different from unity, indicating outcrossings between related individuals and corroborating the presence of internal genetic structure. The results of this study have implications for the methodologies used in conservation collections and for the use or analysis of this forest species. © The American Genetic Association. 2006. All rights reserved.

Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence

Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/ P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. © 2006 Sociedade Brasileira de Genética.

Importancia del diagnóstico precoz de los lipomas de células grandes en la región maxilofacial

Lipoma is a benign tumor composed of proliferation of mature fat cells interspersed by fibrous connective tissue, blood vessels and muscles, delimited by a thin capsule. Although it represents a mesenchymal neoplasm most common human body, are rare occurrences in the oral cavity. Presents clinical and histopathological variables that do not alter their prognosis. The pathogenesis is still uncertain, although some authors consider heredity and endocrine disorders as possible causes. Occurs with greater prevalence in obese people, although their metabolism is completely independent of the normal body lipid metabolism. The clinical diagnosis of oral lipoma is the view of a nodular mass, soft, asymptomatic, flat surface, without ulceration and limited growth. The continuing growth of the lesion may cause difficulty in chewing, speech, dental adaptation and change in facial aesthetics of the patient, requiring surgical excision of the lesion. The final diagnosis is by histopathological examination. Aims to present a literature review and clinical cases of a retrospective study of 61 cases of lipomas diagnosed in pathological service between 1978 and 2009, among the 10 573 reports during that same period. It emphasizes the special cases of large lipomas of the maxillofacial region, and the importance of early diagnosis of these lesions. A dental surgeon should be able to diagnose lipomas in an early stage in the maxillofacial area avoiding a massive growth of these lesions.

Genetic and modifying factors that determine the risk of brain tumors

Some modifying factors may determine the risk of brain tumors. Until now, it could not be attempted to identify people at risk and also to improve significantly disease progression. Current therapy consists of surgical resection, followed by radiation therapy and chemotherapy. Despite of these treatments, the prognosis for patients is poor. In this review, we highlight general aspects concerning genetic alterations in brain tumors, namely astrocytomas, glioblastomas, oligodendrogliomas, medulloblastomas and ependymomas. The influence of these genetic alterations in patients' prognosis is discussed. Mutagen sensivity is associated with cancer risk. The convincing studies that linked DNA damages and DNA repair alterations with brain tumors are also described. Another important modifying factor is immunity. General immune response against cancer, tumor microenvironment and immune response, mechanisms of tumor escape, CNS tumor immunology, immune defects that impair anti-tumor systemic immunity in brain tumor patients and local immunosuppressive factors within CNS are also reviewed. New hope to treatment perspectives, as dendritic-cell-based vaccines is summarized too. Concluding, it seems well established that there is association between brain tumor risk and mutagen sensivity, which is highly heritable. Primary brain tumors cause depression in systemic host immunity; local immunosuppressive factors and immunological characteristics of tumor cells may explain the poor prognosis and DNA damages responses can alert immune system. However, it is necessary to clarify if individuals with both constitutional defects in immune functions and genetic instability have higher risk of developing brain tumors. Cytogenetic prospective studies and gene copy number variations analysis also must be performed in peripheral lymphocytes from brain tumor patients. © 2011 Bentham Science Publishers Ltd.

Dermatóglífos de mulheres obesas brasileiras

Study design: descriptive, observational, cross-sectional. Purpose: Obesity is a complex, multifactorial disease, including genetic and endocrine factors, demographic, socioeconomic, and epidemiological changes. It affects children, adults, and elderly persons. Searching respective hereditary risk indicators is increasing, mainly by applying simple and low-cost methodology. We included thus dermatoglyphics. Objective: To investigated 30 Brazilian women dermatoglyphic profiles, 46.1 ± 07.87 years old, and body fat % equal or higher than 30%. Results: Arch predominance, low loop frequency, and high amount of IV-finger whorls were observed, as well as frequency of rare palmar pattern in 2-interdigital area. Conclusions: Data confirm the variability of dermatoglyphics frequency in different population groups, revealing that the findings meant obesity, regardless of women's different personal characteristics. Thus, additional evidences on constitutional component of obesity have been accumulated.

Toxicogenetic monitoring in urban cities exposed to different airborne contaminants

Microparticles found in the air may be associated with organic matter that contains several compounds, such as Polycyclic Aromatic Hydrocarbons (PAHs) and nitro-PAHs, and may pose a significant risk to human health, possibly leading to DNA mutations and cancers. This study associated genotoxicity assays for evaluating human exposure with the atmospheric air of two urban areas in southern Brazil, that received different atmospheric contributions. Site 1 was under urban-industrial influence and the other was a non-industrial reference, Site 2. Organic extracts from the airborne particulate matter were tested for mutagenicity via the Salmonella/microsome assay and analyzed for PAH composition. Cells samples of people residing in these two cities were evaluated using the comet and micronucleus assay (MN).Concentrations of the individual PAHs ranged from 0.01ng/m3 (benzo[a]anthracene) to 5.08ng/m3 (benzo[ghi]perylene). As to mutagenicity analysis of airborne, Site 1 presented all the mutagenic responses, which varied from 3.2±1.22rev/m3 (TA98 no S9) to 32.6±2.05rev/m3 (TA98, S9), while Site 2 ranged from negative to minimal responses. Site 1 presented a high quantity of nitro and amino derivatives of PAHs, and peaked at 56.0±3.68rev/μg (YG1024 strain). The two groups presented very low DNA damage levels without intergroup difference. Although Site 1 presented high mutagenic responses in the air samples, high PAH levels, healthy people exposed to this environment did not show significative damage in their genetic material. However, the evaluation of different environmental and genetic damage in such population is necessary to monitor possible damages. © 2013 Elsevier Inc.

The discovery of Foxl2 paralogs in chondrichthyan, coelacanth and tetrapod genomes reveals an ancient duplication in vertebrates

The Foxl2 (forkhead box L2) gene is an important member of the forkhead domain family, primarily responsible for the development of ovaries during female sex differentiation. The evolutionary studies conducted previously considered the presence of paralog Foxl2 copies only in teleosts. However, to search for possible paralog copies in other groups of vertebrates and ensure that all predicted copies were homolog to the Foxl2 gene, a broad evolutionary analysis was performed, based on the forkhead domain family. A total of 2464 sequences for the forkhead domain were recovered, and subsequently, 64 representative sequences for Foxl2 were used in the evolutionary analysis of this gene. The most important contribution of this study was the discovery of a new subgroup of Foxl2 copies (ortholog to Foxl2B) present in the chondrichthyan Callorhinchus milii, in the coelacanth Latimeria chalumnae, in the avian Taeniopygia guttata and in the marsupial Monodelphis domestica. This new scenario indicates a gene duplication event in an ancestor of gnathostomes. Furthermore, based on the analysis of the syntenic regions of both Foxl2 copies, the duplication event was not exclusive to Foxl2. Moreover, the duplicated copy distribution was shown to be complex across vertebrates, especially in tetrapods, and the results strongly support a loss of this copy in eutherian species. Finally, the scenario observed in this study suggests an update for Foxl2 gene nomenclature, extending the actual suggested teleost naming of Foxl2A and Foxl2B to all vertebrate sequences and contributing to the establishment of a new evolutionary context for the Foxl2 gene. © 2013 Macmillan Publishers Limited All rights reserved.

Litíase urinária e hipercalciúria idiopática: importância da avaliação da ingestão alimentar

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Os estudos de Avery, Macleod e Mccarty e a idéia do DNA como responsável pela hereditariedade: interpretações historiográficas e apontamentos para o ensino de biologia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Conhecimento básico de genética: concluintes do ensino e graduandos de ciências biológicas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Polimorfismos gênicos e danos no DNA em indivíduos com obesidade mórbida

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Diabetes mellitus: avaliação do grau de conhecimento de acadêmicos de odontologia e de cirurgiões-dentistas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Inquérito de saúde: condições de vida de hipertensos maiores de 60 anos no Estado de São Paulo

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Reflexões sobre normalidade e desvio social

O texto expõe como se instituiu uma das oposições fundamentais na organização de nossa sociedade. A partir da reconstrução histórica do processo de normalização chegamos ao movimento sócio-científico da Eugenia e a poderosa teoria da hereditariedade sob o qual ela se assentava. A categoria social dos anormais é analisada como produto de discursos e práticas sociais, portanto, historicamente. Por fim, apresentamos algumas considerações sobre a polaridade normalidade e patologia na sociedade contemporânea e a persistência de teorias que visam naturalizar diferenças individuais e desigualdades sociais.