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.

Metabolic syndrome in children and adolescents with phenylketonuria.

Objective: This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU).

Methods: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin.

Iron deficiency in Brazilian infants with sickle cell disease.

Objective: To assess iron deficiency or overload in infants with sickle cell disease in order to support the decision to recommend (or not) iron prophylactic supplementation in this population.

Methods: Cross-sectional and retrospective study with 135 infants below 2 years old (66 boys and 69 girls), 77 with SS and 58 with SC hemoglobin, born between 2005 and 2006 in Minas Gerais, Brazil. Indicators of possible iron deficiency were: mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), transferrin saturation (TS), and ferritin.

Gastroesophageal reflux and asthma in childhood: a study on their relationship using esophageal PH monitoring.

Objectives: This study aims at verifying the prevalence of gastroesophageal reflux in asthmatic children, and at determining the sensitivity and specificity of the reflux index for the diagnosis of gastroesophageal reflux disease.

Methods: Sixty-nine children, aged 1-5 years, with asthma, were studied by 24-hour pH monitoring. The patients were randomly selected.

C-reactive protein as an indicator of low intensity inflammation in children and adolescents with and without obesity.

Objectives: To determine the levels of high sensitivity C-reactive protein (hsCRP) in children/adolescents with and without obesity and their correlation with body mass index (BMI) and clinical and laboratory variables.

Methods: A cross-sectional study comparing two parallel groups, one a group of overweight or obese children/adolescents (obesity group, n = 131) and the other a control group of children/adolescents without obesity (control group, n = 114). High sensitivity nephelometry was used to determine hsCRP concentrations.

[Congenital generalized lipodystrophy].

Objective: To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy.

Description: Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included muscle hypertrophy, generalized lipoatrophy, and acromegalic physical appearance.

[Comparison between pre-thickened and home-thickened formulas in gastroesophageal reflux treatement].

Objective: The purpose of this study was to compare the effectiveness of a pre-thickened infant formula (Nan AR) with a conventional homemade formula in the reduction of regurgitation and vomiting in infants with gastroesophageal reflux.\par

Methods: A hundred children, under 12 months, not exclusively breast feeding, were select for the study. Forty-eight were treated with conventional formula with starch and 52 with pre-thickened infant formula.