Chromosome sensitivity to bleomycin in G2 lymphocytes from Down syndrome patients

Several studies have demonstrated that lymphocytes from patients with Down syndrome (DS) exhibit an increased frequency of chromosome aberrations when they are exposed to ionizing radiation or to chemicals at the G0 or G1 phases of the cell cycle, but not at G2 when compared to normal subjects. To determine the susceptibility of DS lymphocytes at G2 phase, bleomycin, a radiomimetic agent, was used to induce DNA breaks in blood cultures from 24 Down syndrome patients. All the patients with DS showed free trisomy 21 (47,XX + 21 or 47,XY + 21). Individuals that showed an average number of chromatid breaks per cell higher than 0.8 were considered sensitive to the drug. No control child showed susceptibility to bleomycin, and among the 24 patients with DS, only one was sensitive to the drug. No significant difference was observed between the two groups, regarding chromatid break frequencies in treated G2 lymphocytes. The distribution of bleomycin-induced breaks in each group of chromosomes was similar for DS and controls. No significant difference was found in the response to bleomycin between male and female subjects. Probably, the main factor involved in chromosome sensitivity of lymphocytes from patients with DS is the phase of the cell cycle in which the cell is treated.

Cytogenetic evaluation of 20 primary breast carcinomas

Chromosome analysis was performed on samples from 20 Brazilian patients with breast cancer. All the samples were from untreated patients who presented the clinical symptoms for months or years before surgical intervention. Six cases showed axillary lymph node metastases. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently observed involved the loss of chromosomes X, 19, 20, and 22 followed by gain of chromosomes 9 and 8. Among the structural anomalies observed, there was preferential involvement of chromosomes 11, 6, 1, 7, 3, and 12, supporting previous reports that these chromosomes may harbour genes of importance in the development of breast tumors. Two cases with a family history of breast cancer had in common total or partial trisomy 1.

Estudo das alterações cariotípicas, do rearranjo gênico BCR/ABL e do cromossomo 20 em leucemias

Leukemia is a genetic disease from a noncontrolled abnormal process of the hematopoietic cells' differentiation and proliferation. Some alterations of structure and number of chromosomes have been well and specifically observed in leukemia. The detection of these alterations is highly significant in providing the patients' diagnosis, prognosis and treatment as well as the understanding of the genetic bases of this disease. The purpose of this work is to study some chromosomal alterations in peripheral blood and/or bone marrow in patients with different leukemia types by means of conventional cytogenetic techniques, and also to investigate the presence of BCR/ABL gene rearrangement and some alterations in chromosome 20 by the FISH technique. Samples of peripheral blood and/or bone marrow of 28 patients, who were not under chemoor radio-therapeutic treatment, were studied: 15 with CML, 11 with AML and 2 with ALL. The alteration most frequent was t(9;22) in the CML, whose presence or absence was related to a good or bad prognosis, respectively. A case of AMI showed inv(16)(p13q22), related to a good prognosis. Some alterations not reported previously in the literature were found, such as the trisomy in chromosome 2 associated to chromosome Ph showing some disease progress in one of the CML cases and t(5;16)(q13;q22) in an AML patient. One of the cases was submitted to an allogeneic hone marrow transplant. The monitoring after the 23 rd day of transplant, detected 95% of the donor cells suggesting the procedure had succeeded. Two patients, an AMI and the other ALL, showed trisomy of chromosome 20 in the neoplastic cells. The results showed the importance of the cytogenetic analysis in relation to leukemia, its direct benefits to the patients and the biological mechanisms involved in this disease. They also allowed the introduction in the Genetic Service of FAMERP techniques to obtain the bone marrow metaphases and the FISH technique.

Genetic alterations in benign lesions: Chronic gastritis and gastric ulcer

Aim: To investigate the occurrence of chromosome 3, 7, 8, 9, and 17 aneuploidies, TP53 gene deletion and p53 protein expression in chronic gastritis, atrophic gastritis and gastric ulcer, and their association with H pylori infection. Methods: Gastric biopsies from normal mucosa (NM, n = 10), chronic gastritis (CG, n = 38), atrophic gastritis (CAG, n = 13) and gastric ulcer (GU, n = 21) were studied using fluorescence in situ hybridization (FISH) and immunohistochemical assay. A modified Giemsa staining technique and PCR were used to detect H pylori. An association of the gastric pathologies and aneuploidies with H pylori infection was assessed. Results: Aneuploidies were increasingly found from CG (21%) to CAG (31%) and to GU (62%), involving mainly monosomy and trisomy 7, trisomies 7 and 8, and trisomies 7, 8 and 17, respectively. A significant association was found between H pylori infection and aneuploidies in CAG (P = 0.0143) and GU (P = 0.0498). No TP53 deletion was found in these gastric lesions, but p53-positive immunoreactivity was detected in 45% (5/11) and 12% (2/17) of CG and GU cases, respectively. However, there was no significant association between p53 expression and H pylori infection. Conclusion: The occurrence of aneuploidies in benign lesions evidences chromosomal instability in early stages of gastric carcinogenesis associated with H pylori infection, which may confer proliferative advantage. The increase of p53 protein expression in CG and GU may be due to overproduction of the wild-type protein related to an inflammatory response in mucosa. © 2006 The WJG Press. All rights reserved.

Disfunções tireoidianas e crescimento físico na Síndrome de Down

Pós-graduação em Pediatria - FMB

A implantação do plano de desenvolvimento da escola nas escolas públicas paulistas: análise crítico-propositiva

Este texto é fruto de um projeto de extensão que promove a reflexão entre professores da Universidade Estadual Paulista e diretores e supervisores da Delegacia de Ensino da Região de Marília/SP. O MEC vem defendendo a adoção do PDE nas escolas públicas que não atingiram as metas definidas pelo IDEB. Nosso objetivo é analisar as propostas do PDE, identificando suas origens, suas características e a concepção de gestão que o embasam. Do mesmo modo, confrontar com o PPP das escolas, analisando suas implicações e consequências para a gestão. A Metodologia adota as pesquisas: bibliográfica, documental (PDE e PPP) e a pesquisa ação com o grupo de estudos em que participam diretores e supervisores da rede estadual e docentes e discentes da UNESP. Como resultados, identificamos que a concepção de gestão, consubstanciada no PDE, caminha em sentido oposto ao da concepção do PPP, especialmente no que se refere à gestão democrática.

O ensino superior noturno no Brasil: história, crescimento e políticas públicas no início do século XXI

There are three distinct and complementary objectives The first objective is to present a short historical overview on the establishment of evening courses in Brazil (classes are held on weekdays, generally from 7:00 pm to 10:30 pm), including those in the higher education level, occurred on the middle of last century. The second objective is to demonstrate the growth of evening higher education, considering that in 1998, of the 2.1 million college enrollments, 55.3% were enrolled in evening courses; in 2010, twelve years later, of the 5.4 million students enrolled, there were 63.5% enrolled in evening courses. The third objective is to discuss current public policies to expand evening openings in public institutions which represent nowadays only 16.1% of the 3.4 million enrollments for evening classes. In the third objective it is included the discussion of programs for scholarships and tuition loans. The research results pointed to the importance of federal programs for scholarships and tuition loans for students from private institutions such as the 1,382,484 scholarships since 2004 (PROUNI Program) and the 847,000 tuition loans since 1999 (FIES Program). Important steps have been made by the Brazilian government. Considering that there are 3,987,424 enrollments in private institutions, the effectiveness of the programs for scholarships and tuition loans is still insufficient to meet the universal benefits for the student’s needs. Evening courses became the real instrument of social inclusion for many Brazilian youths and must be expanded quantitatively and qualitatively, with aggressive public policies, including also, scholarships and tuition loans.

Educação infantil e políticas públicas: algumas considerações a partir de um estudo de caso

O presente estudo tem como objetivos discutir a função da creche e da pré‐escola no contexto das políticas públicas para a educação infantil, bem como refletir sobre a formação necessária aos profissionais da educação infantil para alcançar uma melhor qualidade do atendimento. A pesquisa foi realizada por meio de um formato de investigação caracterizado como estudo de caso etnográfico. Essa forma de pesquisa nos permitiu conhecer, em maior profundidade, a cultura de uma instituição e as perspectivas dos profissionais que participavam de seu cotidiano. Nesse sentido, realizamos observações sistemáticas da rotina institucional, bem como, entrevistas não‐ estruturadas e semi‐estruturadas com as educadoras que atuavam na creche e na pré‐escola. O estudo evidenciou distinções quanto à escolaridade, à jornada de trabalho das educadoras que atuavam na creche e na pré‐escola, bem como nos objetivos educacionais estabelecidos para essas modalidades de atendimento a infância. As concepções das educadoras acerca dos objetivos da Educação Infantil retratam uma visão compensatória e preventiva.  

Dental anomalies in patients with down syndrome

The purpose of the present study was to evaluate the incidence of dental anomalies in Brazilian patients with Down syndrome. A sample with 49 panoramic x-rays of syndromic patients aged 3 to 33 years (22 male and 27 female) was used. The characteristics of dental anomalies were observed in the panoramic radiographs in both the primary and permanent dentition, according to the ICD (International Classification of Diseases). The corresponding tables and percentile analysis were elaborated. There was a high incidence of syndromic patients with different types of anomalies, such as taurodontism (50%), proven anodontia (20.2%), suspected anodontia (10.7%), conic teeth (8.3%) and impacted teeth (5.9%). In conclusion, patients with Down syndrome presented a high incidence of dental anomalies and, in most cases, the same individual presented more than one dental anomaly.

Análise das células tronco tumorais em neoplasias mamárias de cães

Mammary tumors are the most frequent cancers in dogs, representing about 50% of tumors, and have a higher incidence in females of middle aged and elderly. These tumors have been used as a model for breast cancer in women due to several common characteristics such as histological and immunohistochemical similarities. In the last decade, studies based on molecular profiles of breast cancer, made possible the identification of some neoplastic cells with characteristics of stem cells - cancer stem cells (CSC). One of the putative molecules of CSCs is CD44. Recent studies have established a crucial link between the epithelial-mesenchymal transition (EMT) and the acquisition of molecular and functional properties of stem cells. For that reason we analyzed the expression of proteins CD44, Cytokeratins AE1/AE3 and Vimentin, in dogs mammary tumors, to investigate the potencial for CSC markers, and its relation with the EMT using immunohistochemistry in paraffin embedded tissues making use of techniques such as Tissue MicroArrays (TMA). Immunostaining of cytokeratin had no significant difference between benign and malignant tumors (p ≥ 0,05), being more intense in malignant tumors. However vimentina showed higher staining intensity in benign tumors, but with no significant difference (p ≤ 0,05). The expression of CD44 was higher in malignant tumors that have greater proliferative and metastatic potencial, however its relation with EMT was not detected in the analyzed tumors. The techniques applied for the TMAs were efficient and can be used in routine and later researches.

Avaliação funcional pré e pós programa de exercício físico de pacientes em hemodialise

Model Study: An experimental study Introduction: Chronic Kidney Disease (CKD) refers to a syndromic diagnosis which leads to a progressive and irreversible loss of renal function. A hemodialysis patient may have limitations in functional capacity, pulmonary function and respiratory musclular strength impacting in quality of life. Objective: To evaluate the effects of an exercise program on pulmonary function, functional capacity, quality of life and pain in patients undergoing hemodialysis. Methodology: The study included 28 patients of both genders, women and men aged between 40 and 60 years undergoing dialysis at the Kidney Institute, Santa Casa de Misericordia in Presidente Prudente-SP. Primary outcomes included respiratory muscular strength measurements assessed by manovacuometry. The functional capacity was evaluated by a six minute walking test. A life quality questionnaire was applied to evaluate quality of life (SF36-KDQOL). Lung function was evaluated by spirometry. Pain was assessed by a visual analogue scale. The exercise program consisted of training 3 times a week for 40 minutes on hemodialysis during eight weeks. At the end of the program all patients were reassessed. Results: There was no significant difference in the values of FVC and FEV1 before and after the exercise program as well as the index Tiffenau. The value of post MIP was significantly higher than the value obtained in the pre program. For variable MEP no significant difference was found. Functional capacity evaluations showed that there were no significant differences (p> 0.05). The evaluation of quality of life, about the domains of specific areas of CKD showed statistical significance when comparing the list of symptoms and problems with overloading of renal disease and professional role. Indicators related to pain were significantly reduced after the program (P <0.05). Discussion: A chronic kidney patient faces complex situations of physical, social and financial aspects. Although no statistically significant results were found in all variables, the study corroborates to others found in the literature, which suggests that an exercise program can be positive for this population. Conclusion: Although lung capacity and functional capacity did not submit changes to the end of the study, reduced levels of pain, fatigue and dyspnea suggest improvement in functional performance after exercise programs.