16 documents found, page 1 of 2
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...
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...
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...
Randomized double-blind clinical trial comparing two anesthetic techniques for ...
Oliveira Júnior,Gilvandro Lins de; Serralheiro,Fernando Cesar; Fonseca,Fernando Luiz Affonso; Ribeiro Junior,Onésimo Duarte; Adami,FernandoABSTRACT Objective: To compare the anesthetic techniques using propofol and fentanyl versus midazolam and remifentanil associated with a paracervical block with lidocaine in performing ultrasound-guided transvaginal oocyte aspiration. Methods: A randomized double-blind clinical trial (#RBR-8kqqxh) performed in 61 women submitted to assisted reproductive treatment. The patients were divided into two groups: anes...
Incidence of Y-chromosome microdeletions in children whose fathers underwent va...
Ghirelli-Filho,Milton; Marchi,Patricia Leme de; Mafra,Fernanda Abani; Cavalcanti,Viviane; Christofolini,Denise Maria; Barbosa,Caio ParenteABSTRACT Objective To evaluate the incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with sperm retrieval by epididymal aspiration (percutaneous epididymal sperm aspiration). Methods A case-control study comprising male children of couples in which the man had been previously vasectomized and chose vasectomy reversal...
Is there any relation between anthropometric indices and decrease in seminal pa...
Christofolini,Juliana; Barros,Raphael Augusto Saab de Almeida; Ghirelli Filho,Milton; Christofolini,Denise Maria; Bianco,Bianca; Barbosa,Caio ParenteObjective : To investigate the influence of anthropometric indices on seminal parameters. Methods : Men who underwent treatment for conjugal infertility during the period of October, 2011, to March, 2012, were randomly selected. Patients with any prior diseases related to sperm alterations were excluded. Patients were submitted to an anthropometric evaluation to obtain body mass index, and the seminal analysis ...
XX testicular disorder of sex differentiation: case report
Bianco,Bianca; Christofolini,Denise Maria; Ghersel,Frederico Rezende; Gava,Marcello Machado; Barbosa,Caio ParenteABSTRACT The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition detected by cytogenetics, in which testicular development occurs in the absence of the Y chromosome. It occurs in 1:20,000 to 25,000 male newborns and represents 2% of cases of male infertility. About 90% of individuals present with normal phenotype at birth and are generally diagnosed after puberty for hypogan...
Aspiration and ethanol sclerotherapy to treat recurrent ovarian endometriomas p...
André,Gustavo Mendonça; Vilarino,Fábia Lima; Christofolini,Denise Maria; Bianco,Bianca; Barbosa,Caio ParenteABSTRACT Objective: To describe the evolution of controlled ovarian hyperstimulation in women with recurrent ovarian endometriomas treated with sclerotherapy. Methods: Twenty-one patients with a laparoscopic diagnosis of stage III or IV endometriosis who had an endometrioma larger than 3 cm before ovarian hyperstimulation for in vitro fertilization were included in the study. After using a GnRH agonist analog f...