All publications of “Bianca Bianco”

13 results

Vascular endothelial growth factor gene variations as a risk predictor in disc degeneration

Aline Amaro, Ana Beatriz Guerra, Matheus Pippa Defino, Luiz Angelo Vieira, Carla Peluso, Bianca Bianco, [...]

DOI: 10.1590/S1679-45082017AO4053

ABSTRACT 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 collected from all patients to detect VEGF gene polymorphisms identified by qPCR (rs699947, rs1570360, rs2010963, rs833061 and rs3025039). […]

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, […]

Progesterone level on the day of hCG administration in relation to the pregnancy rates of patients undergoing assisted reproduction techniques

Renato de Oliveira, Fernanda Godoy Cabral, Waldemar de Almeida Pereira Carvalho, Emerson Barchi Cordts, Bianca Bianco, Caio Parente Barbosa

DOI: 10.1590/S1679-45082017AO4091

ABSTRACT 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 38 years was, respectively, 42.3%, 38.7% and 16.1% (p

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

Prevalence of inter-hemispheric asymetry in children and adolescents with interdisciplinary diagnosis of non-verbal learning disorder

Alessandra Bernardes Caturani Wajnsztejn, Bianca Bianco, Caio Parente Barbosa

DOI: 10.1590/s1679-45082016ao3722

ABSTRACTObjectiveTo describe clinical and epidemiological features of children and adolescents with interdisciplinary diagnosis of non-verbal learning disorder and to investigate the prevalence of inter-hemispheric asymmetry in this population group.Methods Cross-sectional study including children and adolescents referred for interdisciplinary assessment with learning difficulty complaints, who were given an interdisciplinary diagnosis of non-verbal learning disorder. The following variables were included in the analysis: sex-related prevalence, educational system, initial presumptive diagnoses and respective prevalence, overall non-verbal learning disorder prevalence, prevalence according to school […]

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 […]

The advances and new technologies for the study of mitochondrial diseases

Bianca Bianco, Erik Montagna

DOI: 10.1590/S1679-45082016MD3561

ABSTRACTGenetic 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, their expression pattern, clinical features of gene defects, risk of transmission and current techniques to avoid these events in assisted human reproduction. […]

Histological analysis of the repair of dural lesions with silicone mesh in rats subjected to experimental lesions

Fernando William Figueiredo da Rosa, Pedro Henrique Isoldi Pohl, Ana Maria Amaral Antônio Mader, Carla Peluso de Paiva, Aline Amaro dos Santos, Bianca Bianco, [...]

DOI: 10.1590/S1679-45082015AO3378

ABSTRACTObjective To evaluate inflammatory reaction, fibrosis and neovascularization in dural repairs in Wistar rats using four techniques: simple suture, bovine collagen membrane, silicon mesh and silicon mesh with suture.Methods Thirty Wistar rats were randomized in five groups: the first was the control group, submitted to dural tear only. The others underwent durotomy and simple suture, bovine collagen membrane, silicon mesh and silicon mesh with suture. Animals were euthanized and the spine was submitted to histological evaluation with a score system […]

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