A rare non-Robertsonian translocation involving chromosomes 15 and 21

CONTEXTO:Translocações robertsonianas (TR) estão entre os rearranjos estruturais balanceados mais comuns em humanos e compreendem a fusão da cromatina completa do braço longo de dois cromossomos acrocêntricos. No entanto, são raras as translocações não Robertsonianas envolvendo esses cromossomos.RELATO DE CASO:Nós descrevemos uma translocação não balanceada de novo envolvendo os cromossomos 15 e 21. A recém-nascida era filha de uma mãe de 29 anos e de um pai de 42 anos, casal não consanguíneo. Os achados clínicos levaram ao diagnóstico de síndrome de Down (SD) com defeitos cardíacos congênitos graves (persistência do canal arterial e defeito do septo atrioventricular completo), além de baixos comprimento e peso ao nascimento (< 5o e < 10o percentil em curvas de medidas específicas para SD, respectivamente). A análise citogenética convencional revelou o cariótipo 46,XX,der(15)(15pter→15q26.2

Análise de ligação e associação no genoma com gagueira desenvolvimental persistente em famílias do Estado de São Paulo-Brasil

Pós-graduação em Ciências Biológicas (Genética) - IBB

Construção de um Mapa RH do cromossomo 1 do búfalo de rio (Bubalus bubalis) e análise comparativa com os genomas bovino, humano e de outros mamíferos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estrutura molecular e citogenética de cromossomos B em Astyanax paranae (Characiformes, Characidae)

Pós-graduação em Ciências Biológicas (Genética) - IBB

Cariótipo de seis espécies de Bokermannohyla dos grupos de B. circumdata e B. pseudopseudis (Anura, Hylidae)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Correlação entre aneuploidia cromossômica em espermatozóides e taxa de implantação embrionária: subtitulo

Infertility is directly related to chromosomal abnormalities in germ cells. Among them, the aneuploidies are the most frequent chromosomal abnormalities and responsible for embryo implantation failures, miscarriages, fetal losses and newborns with congenital malformations, mental disability and neuropsychomotor developmental delay. Male patients with normal somatic karyotype may present different rates of aneuploidies in sperm, resulting in abnormal embryos. This study aimed to correlate the frequency of chromosomal aneuploidies in spermatozoa with embryo implantation rate in couples undergoing assisted reproductive techniques. The methodology has included chromosomal analysis by GTG banding and molecular cytogenetic study using Fluorescent In Situ Hybridization technique for evaluation of chromosomes 9, X and Y in germ cells of 22 patients referred to the Human Reproduction Service of the Clinical Hospital FMRP-USP. Embryo implantation rates were determined by hormonal evaluation in maternal peripheral blood and ultrasound confirmation. Two patients presented abnormal karyotype, characterized by polymorphism of the heterochromatic region of the long arm of chromosome 9 and a satellite in the short arm of chromosome 22. Both alterations, usually considered variants of normality, have been related to infertility phenotype and miscarriages. Significant differences were detected between couples who presented pregnancy (group 1) and couples with embryo implantation failure (group 2), with higher frequency of aneusomy and diploidy of chromosome 9, as well as total aneuploidy in sperm of group 2 patients. Our results suggest a correlation between aneuploidy and embryo implantation rates, since the infertile group with reproductive failure has showed higher frequency of aneuploidy. Screening for aneuploidies detection in male germ cells should be included in order to decrease embryo implantation failures, miscarriages and fetuses with chromosomal ...

Importância das alterações cromossômicas na etiologia da infertilidade

Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

Cariótipo, comportamento dos cromossomos na meiose e região organizadora de nucléolo de aranhas pertencentes às famílias Oxyopidae e theridiidae (Araneomorphae, entelegynae)

No presente trabalho, seis espécies de aranhas pertencentes às famílias Oxyopidae e Theridiidae foram examinadas citogeneticamente, através de técnicas de coloração convencional e impregnação pelo íon prata. A análise de células mitóticas e meióticas coradas com Giemsa de quatro espécies de Oxyopidae, Hamataliwa sp., Peucetia flava, Peucetia rubrolineata e Oxyopes salticus revelou informações citogenéticas inéditas para a família. Metáfases espermatogoniais de Hamataliwa sp. mostraram o cariótipo 2n=26+X1X2, o qual corresponde ao maior número diplóide já descrito para a família. Células mitóticas de P. flava e P. rubrolineata exibiram 2n♂=20+X1X2 e 2n♂=20+X, respectivamente, indicando a ocorrência de uma variabilidade cariotípica dentro desse gênero. Os cromossomos dessas três espécies apresentaram morfologia acro/telocêntrica. Os resultados obtidos em O. salticus foram surpreendentes, pois revelaram 2n♂=10+X, o menor número cromossômico encontrado para Oxyopidae e o segundo menor registrado para aranhas do grupo Entelegynae, bem como morfologia meta/submetacêntrica da maioria dos cromossomos. Além disso, um indivíduo da amostra de O. salticus examinada apresentou um heteromorfismo nos elementos que constituem o primeiro par do cariótipo e um cromossomo B em algumas células. Em Hamataliwa sp. e O. salticus, as regiões organizadoras de nucléolo estavam localizadas sobre dois e três pares autossômicos, respectivamente. Em relação às duas espécies de Theridiidae, Argyrodes elevatus apresentou um cariótipo totalmente discrepante, quando comparado com aqueles já descritos para a família, uma vez que mostrou o número diplóide 2n♂=21, sistema cromossômico sexual do tipo X/XX e morfologia cromossômica meta/submetacêntrica. No entanto, as características cariotípicas verificadas na maioria dos exemplares de Nesticodes rufipes foram semelhantes aquelas mais freqüentes em aranhas ...

Ratios of UV, PAR and NIR components to global solar radiation measured at Botucatu site in Brazil

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

Conflito étnico, direitos humanos e intervenção internacional

Dans cet article, on examine comment les conflits ethniques atteignent de façon négative les droits de l'homme et comment a lieu l'intervention internationale en vue de la défense de ces droits. Pour cela, on oppose la structure qui déclenche des conflits ethniques et un cadre idéal où l'État serait capable d'assurer l'exercice des droits humains, selon l optique soutenue par les Nations Unies. Ainsi, à mesure qu'on dénonce les points où ce genre de conflit mine les fondements de ces droits, on construit un deuxième cadre où ils ne sont pas assurés, et c'est là que se pose la question de l'intervention humanitaire. Enfin, on observe que, malgré l'importance des droits humains dans l'après-Guerre Froide, ils ne forment pas une association d'objectifs. Il faut donc, pour comprendre les critères de sélection qui commandent les interventions humanitaires, prendre en compte d'autres intérêts.

Karyotypic characterization of Prochilodus mariae, Semaprochilodus kneri and S. laticeps(Teleostei: Prochilodontidae) from Caicara del Orinoco, Venezuela

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

Diagnostic de securite d'une entreprise bresilienne a partir de l'analyse des accidents du travail par la methode de l'arbre des causes

We present here the results of a study of 21 work-related accidents that occurred in a Brazilian manufacturing company. The aim was to assess the safety level of the company to improve its work accident prevention policy. In the last 6 months of 1992 and 1993, all accidents resulting in 15 days' absence from work, reported for social security purposes, were analyzed using the INRS causal tree method (ADC) and a questionnaire completed on site. Potential risk factors for accidents were identified based on the specific factors highlighted by the ADC. More universal trees were also compiled for the safety assessment. Three hundred and thirty specific accident factors were recorded (man of 15.71 per accident). This is consistent with there being multiple causes of accidents rather than the assertion of Brazilian business safety departments that accidents are due to 'dangerous' or 'unsafe' behavior. Introducing the idea of culpability into accidents prevents the implementation of an appropriate information feedback process, essential for effective prevention. However, the large number of accidents related to 'material' (78%) and 'environment' (70%) indicates that working conditions are poor. This shows that the technical risks, mostly due to unsafe machinery and equipment are not being dealt with. Seventy-five potential accident factors were identified. Of these, 35% were 'organizational', a high proportion for the company studied. Improvisation occurs at all levels, particularly at the organizational level. This is, thus a major determinant for entire series of, if not most, accident situations. The poor condition of equipment also plays a major role in accidents. The effects of poor equipment on safety exacerbate the organizational shortcomings. The company's safety intervention policy should improve the management of human resources (rules designating particular workers for particular workstations; instructions for the safe operation of machines and equipment; training of operators, etc.) and introduce programs to detect risks and to improve the safety of machines and equipment. We also recommend the establishment of a program to follow the results of any preventive measures adopted.

Diagnostic de sécurité d’une entreprise brésilienne à partir de l’analyse des accidents du travail par la méthode de l’arbre des causes

We present here the results of a study of 21 work-related accidents that occurred in a Brazilian manufacturing company. The aim was to assess the safety level of the company to improve its work accident prevention policy. In the last 6 months of 1992 and 1993, all accidents resulting in 15 days' absence from work, reported for social security purposes, were analyzed using the INRS causal tree method (ADC) and a questionnaire completed on site. Potential risk factors for accidents were identified based on the specific factors highlighted by the ADC. More universal trees were also compiled for the safety assessment. Three hundred and thirty specific accident factors were recorded (mean of 15.71 per accident). This is consistent with there being multiple causes of accidents rather than the assertion of Brazilian business safety departments that accidents are due to dangerous or unsafe behavior. Introducing the idea of culpability into accidents prevents the implementation of an appropriate information feedback process, essential for effective prevention. However, the large number of accidents related to material (78%) and environment (70%) indicates that working conditions are poor. This shows that the technical risks, mostly due to unsafe machinery and equipment are not being dealt with. Seventy-five potential accident factors were identified. Of these, 35% were organizational, a high proportion for the company studied. Improvisation occurs at all levels, particularly at the organizational level. This is thus a major determinant for entire series of, if not most, accident situations. The poor condition of equipment also plays a major role in accidents. The effects of poor equipment on safety exacerbate the organizational shortcomings. The company's safety intervention policy should improve the management of human resources (rules designating particular workers for particular workstations; instructions for the safe operation of machines and equipment; training of operators, etc.) and introduce programs to detect risks and to improve the safety of machines and equipment. We also recommend the establishment of a program to follow the results of any preventive measures adopted.

Frutose em humanos: Efeitos metabólicos, utilização clínica e erros inatos associados

This article reviews the metabolism of fructose and sorbitol, their main clinical indications and the consequences of inadequate use. Fructose, an important carbohydrate in the diet, is present mostly in fruits and vegetables; it can also be synthesized from glucose in the organism, through the sorbitol. Fructose is known for its metabolism's inherent errors, whose clinical manifestations are potentially serious, as well as for its use as a glucose substitute in the diabetic patients' diet, due to its metabolism not being dependent from insulin. In the last years, especially in developed countries, the consumption of fructose has increased considerably, due to its use as a sweetener in industrialized foods. However, adverse side-effects may occur with the excessive ingestion of fructose, such as the increase in blood's triglycerides and cholesterol. Therefore, to know which are the patients' normal blood levels is quite important for establishing the safe amount of fructose to be prescribed, as well as for allowing the screening of metabolism diseases associated with fructose.

Extração semi-automática de rodovias em um par de imagens aéreas digitais utilizando geometria epipolar e programação dinâmica

The purpose of this paper is to introduce a methodology for semi-automatic road extraction from aerial digital image pairs by using dynamic programming and epipolar geometry. The method uses both images from where each road feature pair is extracted. The operator identifies the corresponding road featuresand s/he selects sparse seed points along them. After all road pairs have been extracted, epipolar geometry is applied to determine the automatic point-to-point correspondence between each correspondent feature. Finally, each correspondent road pair is georeferenced by photogrammetric intersection. Experiments were made with rural aerial images. The results led to the conclusion that the methodology is robust and efficient, even in the presence of shadows of trees and buildings or other irregularities.