Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician.

Introduction: cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes (LFS/LFL), both of which are caused by TP53 germline mutations. Recent studies have shown that a specific TP53 mutation, known as p.

DNA damage in Fabry patients: An investigation of oxidative damage and repair.

Fabry disease (FD) is a lysosomal storage disorder associated with loss of activity of the enzyme α-galactosidase A. In addition to accumulation of α-galactosidase A substrates, other mechanisms may be involved in FD pathophysiology, such as inflammation and oxidative stress. Higher levels of oxidative damage to proteins and lipids in Fabry patients were previously reported.

Knowledge about breast cancer and hereditary breast cancer among nurses in a public hospital.

Objective: To assess the knowledge of nurses involved in the care of oncology patients in a public university hospital, regarding breast cancer and hereditary breast cancer, and to verify the use of such knowledge in their daily practice.

Methods: This is a descriptive cross-sectional study. Data were obtained through a structured, self-administered questionnaire.

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Background: Pediatric cancers are a feature in patients with Li-Fraumeni syndrome and its variant Li-Fraumeni-like syndrome (LFS/LFL). To the best of the authors' knowledge, TP53 germline mutations are currently the only molecular defect known to be associated with this disease. Recently, a specific germline mutation in this gene, p.

Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review.

Background: Gaucher disease (GD) type I is the most common type of GD. Its main clinical manifestations are hepatosplenomegaly as well as bone and hematological abnormalities. The objective of the present study was to perform a literature review on the growth and metabolism of GD type I patients.

TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient.

Background: Adrenocortical carcinomas (ACCs) are among the most common childhood cancers occurring in infants affected with the Li-Fraumeni and Li- Fraumeni-like (LFS/LFL) syndromes, which are caused by dominant germline mutations in the TP53 gene. In Brazil, a particular mutation, occurring in the tetramerisation domain of the gene, p.R337H, is exceedingly common due to a founder effect and is strongly associated with ACC.

Quality of life of brazilian patients with Gaucher disease and fabry disease.

Objective: To evaluate QoL in a sample of Brazilian patients with Gaucher (GD) and Fabry (FD) disease using the SF-36 survey.

Method: Observational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil.

Increased oxidative damage in carriers of the germline TP53 p.R337H mutation.

Germline mutations in TP53 are the underlying defect of Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome, autosomal dominant disorders characterized by predisposition to multiple early onset cancers. In Brazil, a variant form of LFS/LFL is commonly detected because of the high prevalence of a founder mutation at codon 337 in TP53 (p.R337H).

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism due to deficient activity of α-galactosidase A that leads to accumulation of the enzyme substrates, mainly globotriaosylceramide (Gb3), in body fluids and lysosomes of many cell types. Some pathophysiology hypotheses are intimately linked to reactive species production and inflammation, but until this moment there is no in vivo study about it. Hence, the aim of this study was to investigate oxidative stress parameters, pro-inflammatory cytokines and Gb3 levels in Fabry patients under treatment with enzyme replacement therapy (ERT) and finally to establish a possible relation between them.

Gaucher disease type I: assessment of basal metabolic rate in patients from southern Brazil.

Introduction: Gaucher disease (GD) is characterized by clinical heterogeneity and is associated with metabolic abnormalities such as increased resting energy expenditure.

Objectives: To assess the basal metabolic rate (BMR) of patients with GD type I followed at the Gaucher Disease Reference Center of Rio Grande do Sul, Brazil.

Patients And Methods: Fourteen patients (male=6) and 14 healthy controls matched by gender, age and body mass index (BMI) were included in the study.

Clinical aspects of neuropathic lysosomal storage disorders.

The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summarized in Part 1.

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil.

In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.

White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up.

Purpose: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha.

Method: Eight patients were included. Six completed 24 months of ERT.

Serum S100B protein is increased in fasting rats.

Background: S100B is a calcium-binding protein expressed and secreted by astrocytes; serum and cerebrospinal fluid (CSF) S100B elevation has been proposed as an index of brain damage. However, other tissues are shown to produce this protein and the clinical significance of serum S100B elevation has been discussed.

Methods: We investigated the levels of serum and CSF S100B in fasting Wistar rats.

Serum S100B levels in patients with neural tube defects.

Background: We investigated the levels of S100B protein in the serum of patients with neural tube defects (NTD), and the ontogenetic variation on this group of patients.

Methods: Samples from 24 control individuals and 25 patients with NTD were studied. S100B protein levels were determined using LIA-mat Sangtec kit.

Ontogenetic changes in serum S100B in Down syndrome patients.

Background: It has been shown that Down syndrome (DS) patients have elevated S100B levels in brain tissue.

Design: Measurements of S100B were performed in serum samples from 48 DS patients and 42 ostensibly healthy age-matched controls.

Results: We observed higher levels of S100B in the DS group than in the control group.

S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome.

Objectives: We measured S100B levels and superoxide dismutase (SOD) activity retrospectively in amniotic fluid samples from pregnancies with normal and Down syndrome (DS) fetuses.

Design And Methods: Samples from 26 normal and 71 Down syndrome fetuses were studied. S100B protein levels were determined using LIA-mat Sangtec kit, and SOD activity was measured with the RANSOD kit.