Aos três anos de idade, a engenheira civil Bruna Galvão Marchesano de Freitas, hoje com 26, sofreu uma pequena fratura no pé. Nada demais. Teve o membro engessado e se curou com facilidade. Quatro anos mais tarde, no entanto, teve nova fratura, no fêmur. Dessa vez, a lesão chamou a atenção do ortopedista. Uma criança de sete anos não deveria ter os ossos tão densos - o que os torna inflexíveis e quebradiços.
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Research activities: the Human Cytogenetics Laboratory began operating shortly after the creation of the Department of Medical Genetics by Professor Dr. Bernardo Beiguelman, which took place with the founding of the Faculty of Medical Sciences in 1963. Initially, the cytogenetic unit was installed on the ground floor of the building of the Maternity Hospital of Campinas, for conducting practical classes for the medicine course, the same place where the professor Beiguelman began to study the behavior of macrophages in leprosy. Already at that time, overcoming several structural problems, the first research results were internationally recognized. In 1966, Beiguelman becomes a consultant of the World Health Organization and begins his
participation in international conferences. The laboratory, following the Department of Medical Genetics, was transferred, in 1968, to the newly created campus "University City Zeferino Vaz", where it was allocated in the Biology Institute. In mid-1969, with the founding of the first Clinical Genetics Service of Brazil, this laboratory becomes extremely important to support researches performed in this clinic, when human karyotype analysis began to be regularly performed. In 1987, it was transferred to the Clinical Hospital and, in 1997, to the main building of the Faculty of Medical Sciences complex, where it is currently located. Over the past 10 years, under the responsibility of Professor Dr. Vera Lucia Gil da Silva Lopes, the Human Cytogenetic Laboratory has
undergone renovations to the adequacy of its infrastructure for research activities and was fully re-equipped for the performance of new techniques of molecular cytogenetics.
Currently researches are carried out in different areas, such as clinical cytogenetics, craniofacial genetics and disorders of sexual differentiation, mainly using the FISH (fluorescence in situ hybridization) technique and array genomic hybridizations.
O medicamento usado para tratar convulsões de bebês com síndrome congênita de zika e pacientes com epilepsia ainda não é encontrado no Sistema Único de Saúde (SUS), apesar de ter sido incorporado à rede pública no ano passado. O atraso, segundo o Estado de S. Paulo, é atribuído a uma falta sobre quem pagará pela aquisição do remédio, chamado levetiracetam.