Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.

Objective: The prevalence of biotinidase deficiency and the frequency of biotinidase gene variants in Brazil are not documented. We aimed to determine the incidence of partial and profound biotinidase deficiency in the state of Minas Gerais, Brazil, and to calculate the frequency of biotinidase gene variants in the newborn screening program of Minas Gerais.

Methods: Neonates (1,168,385) were screened from May 2013 to June 2018.

Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.

Biotinidase deficiency is an autosomal recessive inherited metabolic disorder caused by mutations in the BTD gene. Clinical manifestations can be treated and effectively prevented with pharmacological doses of biotin. Nine novel mutations in BTD are reported in 14 children diagnosed by the newborn screening program in Minas Gerais, Brazil, from June 2013 to December 2017.

Incidence of Cervical Human Papillomavirus and Cervical Intraepithelial Neoplasia in Women with Positive and Negative HIV Status.

Objectives To evaluate the incidence and factors associated with cervical intraepithelial neoplasia (CIN) and cervical infection by human papillomavirus (HPV) among HIV-positive and HIV-negative women. Methods A cohort of 103 HIV positive and 113 HIV negative women were monitored between October 2008 and February 2012, for at least one year. Procedures included cervical cytology, DNA/HPV detection by polymerase chain reaction, colposcopy with biopsy if necessary, followed by an interview for exposure characteristics data.

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.

Objective: To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study in Minas Gerais, Brazil.

Methods: A prospective cohort study was conducted from September 2007 to June 2008 with heel-prick blood samples collected on filter paper for the purpose of newborn screening. A qualitative colorimetric test was used as the primary screening method.

Incidence of cervical intraepithelial neoplasia in a cohort of HIV-infected women.

Objective: To assess cervical intraepithelial neoplasia (CIN) incidence in HIV-positive women and the risk factors for these lesions.

Methods: A retrospective and longitudinal cohort study was conducted from June 13, 1997, to December 18, 2009. At the first visit, the 348 participants had a normal cytologic finding but a negative Schiller test result, or an abnormal cytologic finding but no histologic diagnosis of CIN.

Kinetics of hepatitis C virus load and hemodialysis: is there any influence of the reuse of dialysis membrane on HCV viremia?

Background: Patients with chronic kidney disease (CKD) on regular hemodialysis are at increased risk of acquiring hepatitis C virus (HCV). Although controversial, a distinct dynamic of the HCV load has been reported in this group - a lower HCV viremia compared to non-uremic patients. The reasons for this remain unclear, but the host immune response related to the hemodialysis procedure and the reuse of dialysis membranes are the most investigated factors.

[Discrepancy of celiac disease presentation in monozygotic twins].

Context: The celiac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. Despite the genetic characteristic of the disease, studies show discrepancy of 30% in its presentation in monozygotic twins.

Objective: To present two pairs of monozygotic confirmed by genetic study and discordant for presentation of celiac disease.

Comparison of HPV genotyping by type-specific PCR and sequencing.

Human papillomavirus (HPV) infection is the most common sexually transmitted disease worldwide and there is a strong link between certain high-risk viral types and cervical carcinogenesis. Although there are several typing methods, it is still unclear which test is the best. This study compared the effectiveness of type-specific PCR (TS-PCR) and sequencing, with a focus on their clinical application.

Populational genetic data for 15 STR markers in the Brazilian population of Minas Gerais.

Fifteen short tandem repeats (STR) markers were analyzed (TPOX, D2S1338, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, D16S539, D18S51, D19S433, and D21S11) in unrelated individuals undergoing paternity studies from Minas Gerais state, Brazil. Allele frequencies and statistical parameters for the 15 loci were calculated.

[High prevalence of genotype 1 in individuals with hepatitis C in Belo Horizonte, MG].

The hepatitis C virus is characterized by significant genetic heterogeneity. It is currently classified into six main genotypes and several subtypes. Determining the genotype of the virus is important in clinical practice for guiding the treatment for individuals with chronic hepatitis C.