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.

Characterization of language disorders in children with lead poisoning

Background: lead poisoning can have a negative impact on the neuropsychological functions, including language, due to the damage it causes to the developthent of the Central Nervous System. Aim: to verify the occurrence of language disorders in children who suffered from led poisoning and to verify the correlation between the lead concentration level in the blood and the language disorders presented by the children. Method: language evaluation of 20 preschoolers, with lead concentration level in the blood above 10μg/dl. Results: 13 children presented language impairment involving only phonology or more than one language subsystem. The statistical analysis indicated that no correlation exists between the severity of the language impairment and the concentration levels of lead. Conclusion: the number of children with language impairment indicates lead poisoning as a risk factor for the present alterations, even though other risk factors for language disorders were found and the absence of correlation between the investigated variables.

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied, and no patient presented chromosomal diseases. This result may be due to the small sample size analyzed. The introduction of routine analysis of the 2q37 region for patients with autistic disorders depends on further studies. ©FUNPEC-RP.

Performance of children with learning difficulties in fine motor function and handwriting

This study aimed to compare and characterize the fine, sensory and perceptive function performance and handwriting quality between students with learning difficulties and students with good academic performance. Methods: This study comprised 192 students from 2nd to 4th grades, both genders, whose ages ranged from 7 to 11 years old. The students were distributed into: GI, GII, GIII and GIV, comprising 96 students with learning difficulties, and groups GV, GVI, GVII, GVIII comprising 96 students with good academic performance. The students were submitted to evaluation of fine motor, sensorial and perception functions and handwriting evaluation under dictation. Results: The results showed that the students with learning difficulties, from 1st to 3rd grade, had lower performance on tests of fine motor, sensory and perceptive function, when compared to the students with good academic performance in the same grade; the students from 4th grade, both groups, did not show changes on fine motor, sensory and perceptive function; and only the students of GII showed dysgraphia. Conclusions: the results presented in this study suggest that the qualitative aspects of fine motor, sensory and perceptive skills reflect the integrity and maturity of central nervous system and can probably play an important role in early diagnosis of development disorders and consequently prevent academic disorders such as handwriting performance.

Desempenho de escolares com dificuldades de aprendizagem em funçào motora fina e escrita

Aims: the aims of this study were to compare and to characterize the fine, sensory and perceptive function performance and handwritten quality between students with learning difficulties and students with good academic performance. GII, GIII and GIV: 96 students with learning difficulties, and groups GV, GVI, GVII, GVIII: 96 good academic performance. The students were submitted to evaluation of fine motor, sensorial and perception functions and handwriting evaluation under dictation. Results: the results show that the students with learning difficulties from 1st to 3rd grade had lower performance on tests of fine motor, sensory and perceptive function compared to the students with good academic performance in the same grade; the students from 4th grade, both groups, did not show changes on fine motor sensory and perceptive function; and only the students of GII showed disgraphya. Conclusions: the results presented in this study suggest that the qualitative aspects of fine motor, sensory and perceptive skills reflect the integrity and maturity of central nervous system and can probably play an important role in early diagnosis of development disorders and consequently prevent academic disorders such as handwriting performance.

Atendimento Educacional Especializado: análise do índice de evasão de professores em curso de pós-graduação, na modalidade a distância

This research aims to investigate the possible causes for the dropout of participants under instruction in distance courses. Data gathered from the Specialization Course in Specialized Educational Support Services - SES, sponsored by the Department for Continuing Education, Literacy and Diversity of the Ministry of Education - SECAD / MEC - and the Open University of Brazil – OUB, will be analyzed. The objective of the course is to graduate teachers who work in classrooms equipped with multifunctional resources in regular schools to give specialized educational support for students with special educational needs marked by disabilities, global development disorders and high abilities/highly gifted students. In order to analyze dropout data in the first semester of the ongoing course, a sample of 1349 participants enrolled in the distance course was considered; 216 of these had their enrollment cancelled on request or because they stopped accessing the Virtual Learning Environment - VLE / Teleduc Platform showing no interest in the course. However, the information below aims to present and discuss only the tabulated data of the 98 participants who requested to have their enrollment officially cancelled by submitting the online dropout term. The findings showed the main reasons for dropping out were personal problems, lack of time to commit to an ongoing distance course, difficulty using ICT and the tools available in the VLE. The research also highlighted the importance of developing digital inclusion initiatives as well as on-site supporting poles as a way to soften the barriers of technological accessibility and the dropout rate in this kind of courses.

Salas de recursos multifuncionais: contexto de Inclusão Escolar para os alunos público-alvo da Educação Especial ?

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Reflexões a respeito da educação a distância: a visão de professores em formação continuada

The study aimed to analyze the vision of teachers in conducting a continuing education course in level of expertise in the field of special education, focusing on Global Development Disorders, through the modality of distance education. The current study was provided by the Network Program São Paulo Teacher Training - REDEFOR in partnership with Universidade Estadual Paulista-UNESP, for teachers of the state of São Paulo. The survey went through some steps, namely: a) literature review a brief history of Distance Education in Brazil and in the world thus seeking to understand their development to the present day, including legislation that regulates; b) study and survey of potential and limiting factors for distance education in teacher training. Was observed of initial and continuing teacher education in the distance mode, focusing on education and training policies implemented by the state of São Paulo, in recent years; c) data collection with 33 teachers in the continuing education process, e-mail and performed with the use of Google Drive tool that enabled the creation of online search form; d) organization, analysis and interpretation of data and its consequences. Through the results it observed that distance education is considered a favorable mode of education for the continuing education of teachers. The course was offered via Moodle and tools were considered easy to assimilate and elaborate activities in general, favored the construction of knowledge, and some questioned for its effectiveness. It follows therefore, that distance education provides continuing education for teachers, but it is necessary in the preparation of these courses is taken into consideration the tools and resources available in their construction, contributing to a dynamic and interactive model between all participants in which the exchange of experiences, questions, doubts, can effectively contribute to the construction of knowledge and possible developments in..

The Brazilian Research Consortium on Obsessive-Compulsive Spectrum Disorders: recruitment, assessment instruments, methods for the development of multicenter collaborative studies and preliminary results

OBJETIVO: Descrever o recrutamento de pacientes, instrumentos de avaliação, métodos para o desenvolvimento de estudos colaborativos multicêntricos e os resultados preliminares do Consórcio Brasileiro de Pesquisa em Transtornos do Espectro Obsessivo-Compulsivo, que inclui sete centros universitários. MÉTODO: Este estudo transversal incluiu entrevistas semi-estruturadas (dados sociodemográficos, histórico médico e psiquiátrico, curso da doença e diagnósticos psiquiátricos comórbidos) e instrumentos que avaliam os sintomas do transtorno obsessivo-compulsivo (Escala para Sintomas Obsessivo-Compulsivos de Yale-Brown e Escala Dimensional para Sintomas Obsessivo-Compulsivos de Yale-Brown), sintomas depressivos (Inventário de Depressão de Beck), sintomas ansiosos (Inventário de Ansiedade de Beck), fenômenos sensoriais (Escala de Fenômenos Sensoriais da Universidade de São Paulo), juízo crítico (Escala de Avaliação de Crenças de Brown), tiques (Escala de Gravidade Global de Tiques de Yale) e qualidade de vida (questionário genérico de avaliação de qualidade de vida, Medical Outcome Quality of Life Scale Short-form-36 e Escala de Avaliação Social). O treinamento dos avaliadores consistiu em assistir cinco entrevistas filmadas e entrevistar cinco pacientes junto com um pesquisador mais experiente, antes de entrevistar pacientes sozinhos. A confiabilidade entre todos os líderes de grupo para os instrumentos mais importantes (Structured Clinical Interview for DSM-IV, Dimensional Yale-Brown Obsessive-Compulsive Scale, Universidade de São Paulo Sensory Phenomena Scale ) foi medida após seis entrevistas completas. RESULTADOS: A confiabilidade entre avaliadores foi de 96%. Até março de 2008, 630 pacientes com transtorno obsessivo-compulsivo tinham sido sistematicamente avaliados. A média de idade (±SE) foi de 34,7 (±0,51), 56,3% eram do sexo feminino e 84,6% caucasianos. Os sintomas obsessivo-compulsivos mais prevalentes foram os de simetria e os de contaminação. As comorbidades psiquiátricas mais comuns foram depressão maior, ansiedade generalizada e transtorno de ansiedade social. O transtorno de controle de impulsos mais comum foi escoriação neurótica. CONCLUSÃO: Este consórcio de pesquisa, pioneiro no Brasil, permitiu delinear o perfil sociodemográfico, clínico e terapêutico do paciente com transtorno obsessivo-compulsivo em uma grande amostra clínica de pacientes. O Consórcio Brasileiro de Pesquisa em Transtornos do Espectro Obsessivo-Compulsivo estabeleceu uma importante rede de colaboração de investigação clínica padronizada sobre o transtorno obsessivo-compulsivo e pode abrir o caminho para projetos semelhantes destinados a integrar outros grupos de pesquisa no Brasil e em todo o mundo.

Spontaneous Periodontitis Development in Diabetic Rats Involves an Unrestricted Expression of Inflammatory Cytokines and Tissue Destructive Factors in the Absence of Major Changes in Commensal Oral Microbiota

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

Development of a real-time PCR method for rapid sexing of human preimplantation embryos

Genes on the X chromosome are known to be responsible for more than 200 hereditary diseases. After IVF, the simple selection of embryo sex before uterine transfer can prevent the occurrence of affected offspring among couples at risk for these genetic disorders. The aim of this investigation was to develop a rapid method of preimplantation genetic diagnosis (PGD) using real-time polymerase chain reaction (PCR) for the sexing of human embryos, and to compare it to the fluorescence in-situ hybridization technique, considered to be the gold standard. After biopsies were obtained from 40 surplus non-viable embryos for transfer, a total of 98 blastomeres were analysed. It was possible to analyse 24 embryos (60%) by both techniques, generating a total of 70 blastomeres (35 per technique), white 28 blastomeres from 16 embryos (40%) were analysed only by real-time PCR. A rapid and safe method was developed in the present study for the sexual diagnosis of a single human cell (blastomere and buccal cell) using the emerging technology of real-time PCR. (C) 2009, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Alcohol use disorders in patients with obsessive-compulsive disorder: The importance of appropriate dual-diagnosis

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Dental Practice and Musculoskeletal Disorders Association: A Look at the Evidence

Disorders localized to the musculoskeletal system are a common problem among dental personnel. This study has the aim of surveying epidemiological studies reporting positive associations between dental practice and musculoskeletal disorders (MSKDs). The focus was to evaluate the size of reported risk increase and the extent to what alternative causal explanations were considered. Reports with significant links (p value .05) were systematically selected from 2 electronic databases. Twenty-five studies were identified. Risk measures were reported in 8 studies, and all of them presented weak associations. The impact of at least 1 competing explanations was analyzed in 32% of studies, but adjustment was considered not adequate in half of them. The evidence on dentistry as a profession with potential risk for development of MSKDs remains questionable. Further research is needed to more carefully elucidate the risk and the impact of MSKDs in this particular occupational group.

Epididymis-specific pathologic disorders in rats exposed to gossypol from weaning through puberty

Previous work in our laboratory revealed that the pubertal period of reproductive development in the male rat was particularly vulnerable to gossypol exposure, with a higher frequency of round structures in the lumen of the cauda epididymidis in the treated rats. Herein, we utilized hemicastration and electron microscopy to confirm that the epididymis is a definitive target of gossypol. Although exposure to gossypol from weaning through puberty caused a significant decrease in daily sperm production, as well as in the concentration of sperm in the epididymis, serum testosterone levels and reproductive organ weights were not altered. In gossypol treated rats, sperm morphology was compromised severely, but the epithelium in testis and epididymis appeared morphologically normal. Ultrastructural examination revealed that round structures, present only in gossypol exposed males, represented: (1) principal cells exfoliated from the epididymal epithelium; (2) epididymal epithelial cell cytoplasm containing degenerating sperm; and (3) degenerating epithelial cells, consisting of vesicles and particles of different sizes, forms and densities. Taken together, the data confirm that gossypol targets the epididymis, disturbing both the structure and function of this organ, and presumably disrupts sperm maturation.

Long-term effects of developmental exposure to di-n-butyl-phthalate (DBP) on rat prostate: Proliferative and inflammatory disorders and a possible role of androgens

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