Maricilda Palandi de Mello

• Abstract

  Nephrotic Syndrome (NS) affects 16 in 100,000 children, making this condition one of the most common kidney diseases in childhood. The disease is usually classified as Congenital (CNS) when it manifests in utero or during the first three months of life, Infantile when the event occurs during the first year of life, in Childhood when symptoms occur between one year and 12 years and Juvenil…

  Whole Exome Sequencing in Brazilian Children and Adolescents with Steroid Resistant Nephrotic Syndrome, AP.R

• Abstract

  Background: Nephrotic syndrome is traditionally classified on the basis of the response to standard steroid treatment. Mutations in more than 24 genes have been associated with nephrotic syndrome in children, although the great majority of steroid-resistant cases have been attributed to mutations in three main genes: NPHS1, NPHS2 and WT1. The aims of this study were to identify mutations …

  NPHS2 mutations account for only 15% of Nephrotic Syndrome cases, PUB.ART

• Abstract

  The nephrotic syndrome is a non-specific disease that affects the kidneys causing protein loss. It is usually classified as congenital nephrotic syndrome with manifestation during the first three months of life, Infant nephrotic syndrome, during the first year of life, and Idiopathic when symptoms are later and with an undefined etiology. The SN is also classified as steroid-sensitive, st…

  Study of WT1, NPHS1 and NPHS2 in children with nephrotic syndrome, AP.R

(Only some records are available in English at this moment)

• Abstract

  Nephrotic Syndrome (NS) affects 16 in 100,000 children, making this condition one of the most common kidney diseases in childhood. The disease is usually classified as Congenital (CNS) when it manifests in utero or during the first three months of life, Infantile when the event occurs during the first year of life, in Childhood when symptoms occur between one year and 12 years and Juvenil…

  EEstablishment of Exome Sequencing as a Resarch Tool for Screening Genes Related to Nephrotic Syndrome in Brazilian Children, BP.PD

• Abstract

  Disorders of Sex Differentiation (DSD) characterize incomplete or disorganized genital or gonadal development. DSD with 46,XY karyotype may present either ambiguous or female genitalia, and also dysgenetic gonads in some cases, with presence or absence of Müllerian derivatives. The most frequent condition in 46,XY DSD is androgen insensitivity followed by 5-alpha-reductase type 2 deficien…

  Functional analyses of new nucleotide variations in NR5A1 gene in patients 46,XY with disorders of sex development, BP.DR

• Abstract

  The sex definition at birth or even before, has been essential to the society we live. When it is not possible, it become a cause of distress for the family and, later, to the child. The embrionary sex development can be divided into three stages: the undifferentiated stage, differentiation of gonads and both internal and external genitalia, the latter being dependent on the action of hor…

  Analysis of alterations in the gene expression and in the enzymatic activity resulting from CYP21A2 gene intronic and exonic variations, BP.DD

(Only some records are available in English at this moment)

• Abstract

  Congenital Adrenal Hyperplasia (CAH), one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. One consequence of this is the deviation to the synthesis of androgenic hormones. Intrauterine prenatal exposure to androgen excess in critical stages of sexual differentiation leads to external genitalia viriliza…

  Functional analyses of novel nucleotides variations in the CYP21A2 gene identified in patients with congenital adrenal hyperplasia, BE.EP.DD

• Abstract

  The objective of this project is to analyze the functional role of the mutations p.Cis65Tir, p.Arg39Cis, p.Ser32Asn and p.Cis247* in NR5A1 protein, as well as the effect of nucleotide variations (c.-133G>A, c.-156_-136ins18pb, c.-413G>A, c.-208C>A, and c.-762C>T) identified in NR5A1 5'UTR and exon 1, which are non-coding regions but are important for NR5A1 transcriptional regulation. This…

  Functional analyses of novel nucleotides variations in the NR5A1 gene identified in patients 46,XY with disorders of sex development, BE.EP.DR