25 documents found, page 1 of 3
Genetic analysis of products of conception. Should we abandon classic karyotypi...
Christofolini,Denise Maria; Bevilacqua,Leticia Busachero; Mafra,Fernanda Abani; Kulikowski,Leslie Domenici; Bianco,Bianca; Barbosa,Caio ParenteABSTRACT Objective: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. Methods: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic evaluation, from 2012 to 2017. The evaluations were performed using cytogenetics and/or chromosomal microa...
Fertility preservation in breast cancer with oral progestin: is it an option? A...
Oliveira,Renato de; Maya,Bárbara Gomes; Nogueira,Mariana Bittencourt Silva; Conceição,Gabriel Seixas; Bianco,Bianca; Barbosa,Caio ParenteABSTRACT Objective To compare the effectiveness of oral progestins and injectable gonadotropin-releasing hormone antagonist medication in cancer fertility preservation in patients with breast cancer. Methods A cross-sectional study with 40 breast cancer patients submitted to cancer fertility preservation, who were divided into two groups according to histochemical analysis of progesterone receptors to define lu...
The Effect of Testosterone Replacement on Intramedullary, Inguinal and Visceral...
Silva,Lorena Doretto da; Veridiano,Juliana Mora; Oliveira,Jussara Celi Conceição; Sayeg,Anna Carolina Haddad; Mader,Ana Maria Amaral AntonioAbstract Objective The present article aims to evaluate the impact of testosterone treatment on the expansion of visceral, subcutaneous and intramedullary adipose tissue of ovariectomized rats and the visceral and subcutaneous fat expression of peroxisome proliferator-activated receptors (PPARs) gamma. Methods In total 48 female Wistar rats were castrated and randomly divided into 6 treatment groups: group E2 w...
Reproductive alternatives for patients with dystrophic epidermolysis bullosa
Christofolini,Denise Maria; Ceroni,José Ricardo Magliocco; Soares,Giovanna Guimarães; Lamy,Gustavo Bertollini; Calvo,Ana Carolina NemethABSTRACT Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which classified as simplex, 5% dystrophic, 1% junctional and 2% non-classified. Dystrophic epidermolysis bullosa is associated with autosomal, dominant and ...
Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (P...
Pabalan,Noel; Jarjanazi,Hamdi; Christofolini,Denise Maria; Bianco,Bianca; Barbosa,Caio ParenteABSTRACT Objective To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. Methods A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism. Results A significant increased risk in all genetic mo...
How polymorphic markers contribute to genetic diseases in different populations...
Christofolini,Denise Maria; Cordts,Emerson Barchi; Santos-Pinheiro,Fernando; Kayaki,Erika Azuma; Dornas,Mayla Cristina FernandesABSTRACT Objective To verify the incidence of the G679A mutation in exon 2 of the gene inhibin alpha (INHA), in women with secondary amenorrhea and diagnosis of premature ovarian insufficiency, and in controls. Methods A 5mL sample of peripheral blood was collected from all study participants in an EDTA tube and was used for DNA extraction. For the patient group, 5mL of blood were also collected in a tube conta...
Progesterone level on the day of hCG administration in relation to the pregnanc...
Oliveira,Renato de; Cabral,Fernanda Godoy; Carvalho,Waldemar de Almeida Pereira; Cordts,Emerson Barchi; Bianco,Bianca; Barbosa,Caio ParenteABSTRACT Objective To evaluate the predictive capacity for pregnancy of the progesterone level on the day of administering human chorionic gonadotropin, in women submitted to assisted reproductive techniques. Methods An observational study with 914 women submitted to assisted reproductive techniques from August 2014 to June 2016. Results Total pregnancy rate was 34.58%; in that, the pregnancy rate in women <35 ...
Vascular endothelial growth factor gene variations as a risk predictor in disc ...
Amaro,Aline; Guerra,Ana Beatriz; Defino,Matheus Pippa; Vieira,Luiz Angelo; Peluso,Carla; Bianco,Bianca; Rodrigues,Luciano Miller ReisABSTRACT Objective: To evaluate the frequency of polymorphisms in the vascular endothelial growth factor (VEGF) gene, as well as to identify a potential risk haplotype among the polymorphic regions in this gene in patients with disc degeneration and in the Control Group. Methods: This study analyzed a total of 217 individuals distributed into the Disc Degeneration and Control Groups. Peripheral blood was collec...
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy
Bianco,Bianca; Christofolini,Denise Maria; Conceição,Gabriel Seixas; Barbosa,Caio ParenteABSTRACT Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The co...
The advances and new technologies for the study of mitochondrial diseases
Bianco,Bianca; Montagna,ErikABSTRACT Genetic mitochondrial disorders are responsible for the most common inborn errors of metabolism, caused by mutations in either nuclear genes or in mitochondrial DNA. This article presents the prokaryotic origin of the organelle and the relation between nuclear and mitochondrial genomes, as well as current evolutionary models for such mechanisms. It also addresses the structure of mitochondrial genes, t...