All publications of “Denise Maria Christofolini”

9 results

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Denise Maria Christofolini ORCID logo , José Ricardo Magliocco Ceroni ORCID logo , Giovanna Guimarães Soares ORCID logo , Gustavo Bertollini Lamy ORCID logo , Ana Carolina Nemeth Calvo ORCID logo , Tamara Alba dos Santos ORCID logo , [...]

DOI: 10.31744/einstein_journal/2019RC4577

ABSTRACT 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 recessive inheritance. Epidermolysis bullosa causes severe psychological, economic and social impacts, and there is currently no curative therapy, only symptom control. Embryonic […]

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa

DOI: 10.1590/S1679-45082017RC3994

ABSTRACT 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 couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, […]

How polymorphic markers contribute to genetic diseases in different populations? The study of inhibin A for premature ovarian insufficiency

Denise Maria Christofolini, Emerson Barchi Cordts, Fernando Santos-Pinheiro, Erika Azuma Kayaki, Mayla Cristina Fernandes Dornas, Monise de Castro Santos, [...]

DOI: 10.1590/S1679-45082017AO4052

ABSTRACT 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 containing heparin for karyotype, and 5mL were collected in a dry […]

Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Noel Pabalan, Hamdi Jarjanazi, Denise Maria Christofolini, Bianca Bianco, Caio Parente Barbosa

DOI: 10.1590/S1679-45082017RW3827

ABSTRACT 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 models of the variant T allele with endometriosis (odds ratio: 3.14-5.55; p

Incidence of Y-chromosome microdeletions in children whose fathers underwent vasectomy reversal or in vitro fertilization with epididymal sperm aspiration: a case-control study

Milton Ghirelli-Filho, Patricia Leme de Marchi, Fernanda Abani Mafra, Viviane Cavalcanti, Denise Maria Christofolini, Caio Parente Barbosa, [...]

DOI: 10.1590/s1679-45082016ao3805

ABSTRACTObjectiveTo 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 (n=31) or in vitro fertilization with sperm retrieval by percutaneous epididymal sperm aspiration (n=30) to conceive new children, and a Control Group of male children of fertile men who […]

Randomized double-blind clinical trial comparing two anesthetic techniques for ultrasound-guided transvaginal follicular puncture

Gilvandro Lins de Oliveira Júnior, Fernando Cesar Serralheiro, Fernando Luiz Affonso Fonseca, Onésimo Duarte Ribeiro Junior, Fernando Adami, Denise Maria Christofolini, [...]

DOI: 10.1590/S1679-45082016AO3714

ABSTRACTObjective: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: anesthetic induction with 1mcg/kg of fentanyl associated with 1.5mg/kg of propofol (FP Group, n=32), in comparison with anesthetic induction using 0.075mg/kg of midazolam associated with 0.25mcg/kg/min of remifentanil, and paracervical block with 3mL […]

Is there any relation between anthropometric indices and decrease in seminal parameters?

Juliana Christofolini, Raphael Augusto Saab de Almeida Barros, Milton Ghirelli Filho, Denise Maria Christofolini, Bianca Bianco, Caio Parente Barbosa

DOI: 10.1590/S1679-45082014AO2781

Objective: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 was made through a spermogram. Two anthropometric methods of classification were used: body mass index (normal and altered) and abdominal circumference (94cm). Data were […]

Aspiration and ethanol sclerotherapy to treat recurrent ovarian endometriomas prior to in vitro fertilization – a pilot study

Gustavo Mendonça André, Fábia Lima Vilarino, Denise Maria Christofolini, Bianca Bianco, Caio Parente Barbosa

DOI: 10.1590/s1679-45082011ao2081

ABSTRACTObjective: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 for at least 20 days, the cysts were punctured using ultrasound guidance and subsequent ethanol sclerotherapy was performed. Then, the patients were stimulated with 100 or […]

XX testicular disorder of sex differentiation: case report

Bianca Bianco, Denise Maria Christofolini, Frederico Rezende Ghersel, Marcello Machado Gava, Caio Parente Barbosa

DOI: 10.1590/s1679-45082011rc1862

ABSTRACTThe 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 hypoganadism, gynecomastia, and/or infertility. The authors present the report of an XX male with complete masculinization and […]