Análise prospectiva do padrão de metilação nos genes associados a doenças cardíacas SCN5A e MTR para aplicação na genética forense

Pós-graduação em Biotecnologia - IQ

Estudo citogenético, regiões 2q37e 22q13.3 e condições médicas em doenças do espectro autístico

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Enfermidades genéticas com mutações caracterizadas em bovinos

The genetic inheritance, beyond determining the regular features of all the live beings, can also be the cause of diseases, called as hereditary or genetic diseases. In the case of livestock, especially cattle, little genetic variation, by the use of the same sires for a long time, can facilitate the emergence of problems. In this study, we reviewed eight of the most important genetic diseases in cattle herds around the world, whose mutation has already been characterized. Some of these diseases are reported in Brazil, but there are few studies and articles on this subject, due to the difficulty of a definitive diagnosis, which often is only possible with the use of molecular biology techniques. The knowledge of the disorders and the correct diagnosis are essential to initiate an action plan aimed at eradicating them

Doenças osteoarticulares em pequenos animais

Osteoarticular diseases are very frequent in small animals, especially dogs. Osteoarthritis is the most common degenerative arthropathy in cats and dogs. It is one of the most important skeletal disease in small animals and it is divided into two broad classes: secondary and genetics. The secondary is originated from situations that can cause joint instability like as trauma, ligament problems and obesity among others. The gene for osteoarthritis comes from hereditary problems such as hip dysplasia, elbow dysplasia and other diseases that can cause articular instability. The hereditary osteoarticular diseases are important only because they can result in the osteoarthritis. It is important to prevent the joint instability and consequently the clinical signs that affect the quality of life of the animals. The most common clinical signs are intermittent claudication, a decrease in performance, reluctance to jump and climb ladders among others. To prevent the clinical signs or mitigate them, the treatments need to be focused on pain control and especially restoration of the affected joint. The treatments most used are the medical and surgery. Anti-inflammatory and analgesics are used in large scale for pain control and to inhibit inflammatory mediators. Furthermore, medical treatment includes weight reduction, physiotherapy and proper nutrition along with anti-inflammatory and analgesics. Surgical treatments are indicated if there is an inadequate response to medical treatment. Physiotherapy is often used in conjunction with other treatments. Besides the reduction of weight is essential and obesity is unacceptable. Cats also suffer from osteoarthritis, but the diagnosis is rarer than in dogs. Usually the cat’s owners relate the reluctance to jump and drop in performance with senility, and when the disease is diagnosed is already in... (Complete abstract click electronic access below)

Investigação de hemoglobinopatias em sangue de cordão umbilical de recém-nascidos do Hospital de Base de São José do Rio Preto

As hemoglobinopatias são as doenças genéticas mais freqüentes na população humana. Cerca de 12 a 15% da população é portadora de uma ou mais formas de hemoglobinas anormais, resultando em um grande problema de saúde pública. O diagnóstico neonatal possibilita o tratamento e o aconselhamento genético precoce, incluindo a conscientização dos portadores sobre o risco do nascimento de homozigotos. O objetivo deste trabalho é apresentar os resultados da investigação de hemoglobinopatias em recém-nascidos do Hospital de Base de São José do Rio Preto. O estudo foi realizado em 913 amostras de sangue de cordão umbilical, que foram submetidas a testes eletroforéticos, bioquímicos e citológicos, específicos para análise de hemoglobinas. Foram identificadas 100 (10,95%) amostras com hemoglobinas anormais, das quais 40 (4,38%) com Hb Bart's, sugerindo alfa talassemia, 34 (3,72%) com Hb S, 23 (2,52%) com beta talassemia, duas (0,22%) com Hb C e uma (0,11%) amostra apresentou Hb rápida. A frequência elevada de alterações encontradas evidencia a necessidade da triagem neonatal de hemoglobinopatias que pode resultar em amplos benefícios para os portadores destas patologias e seus familiares.

Dificuldades no diagnóstico laboratorial das hemoglobinopatias

Há vários tipos de hemoglobinopatias que são caracterizados por variantes das hemoglobinas anormais (ex: Hb S, Hb C, Hb Instáveis,etc) e por talassemias (ex: tal. alfa, tal. beta, tal.beta/delta,etc) As hemoglobinopatias são consideradas como uma das doenças genéticas mais comuns em todo o mundo, com prevalência de portadores heterozigotos de seus principais tipos em aproximadamente 5% da população mundial. Devido à heterogenidade clínica e genética dessas alterações genéticas é fundamental estabelecer a investigação laboratorial das diferentes formas de hemoglobinas variantes e de talassemias. Este artigo apresenta as principais dificuldades laboratoriais que envolvem a complexidade molecular das hemoglobinopatias.

Análise dos efeitos citotóxicos, genotóxicos e mutagênicos do inseticida malation, utilizando os sistemas teste de Allium cepa e células de mamíferos

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

Efeito da Hidroxiuréia, uma substância de uso médico, sobre parâmetros biológicos de Drosophila melanogaster

Pós-graduação em Genética - IBILCE

Obtenção, manutenção e caracterização de células-tronco embrionárias equinas

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

Efeito da idade do homem na avaliação do sêmen pela Motile Sperm Organelle Morphology Examination (MSOME)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Processo oxidativo em doadores de sangue portadores de hemoglobina S e mutantes no gene HFE

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Representações de indivíduoas em situações de isolamento para transplante de medula óssea

Pós-graduação em Enfermagem (mestrado profissional) - FMB

Correlações entre sono-vigília, memória e melatonina em Síndrome de Williams-Beuren

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Diferenciação miogênica “in vitro” de células tronco mesenquimais murinas de diferentes origens

Muscular dystrophy refers to a group of more than 30 genetical disorders characterized by progressive weakness and degeneration of the skeletal muscle. No effective therapy is available at present. Recent studies have reported that the transplantation of stem cells can offer an important potential therapy for genetic diseases. Adult bone marrow mesenchymal stem cells have been identified as a nonhematopoietic stem cell population capable of self-renewal with the ability to differentiate into many cell lineages, including bone, fat, cartilage and connective tissue. Because of their similarity with muscle progenitor cells, when they are injected in affected individuals, they are able to migrate into areas of skeletal muscle degeneration and participate in the regeneration process. The adipose tissue represents an alternative source of MSCs that, as the MSCs derived from bone marrow, are capable of in vitro differentiation into osteogenic, adipogenic, myogenic and chondrogenic lineages. The objective of this project is to investigate the “in vitro” myogenic potential of mesenchymal stem cells derived from murine bone marrow and adipose tissue. Four experimental groups were analyzed: mice from lineages Lama2dy-2J/J and C57black and, C2C12 lineage cells and transformed C2C12 expressing the eGFP protein. MSCs cultures were obtained by flushing the bone marrow femurs and tibials with α-MEM or by the subcutaneous and inguinal fat from the mice. Their characterization was done by flow cytometry and in vitro differentiation. Muscle differentiation was studied through the analysis of the expression of transcriptional factors involved in muscle differentiation and/or the presence and amount of specific proteins from muscle differentiated cell. The pluripotency from bone marrow MSCs of the two lineages was evidenced and, in the muscular differentiation... (Complete abstract click electronic access below)

Análise de genes envolvidos na neurotransmissão, formação e manutenção sináptica em indivíduos com transtornos do espectro do Autismo

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