Rosana Marques Pereira

Learn More
Adrenocortical tumors (ACT) in children are uncommon. However, the incidence of these tumors in Paraná, Brazil, is 15 times higher than that worldwide. We describe the clinical, laboratory and treatment characteristics and outcome of 125 patients treated in a single institution in the State of Paraná. The median age at diagnosis was 4.3 years, with a(More)
BACKGROUND Congenital hypothyroidism (CH) is mainly due to developmental abnormalities leading to thyroid dysgenesis (TD). TD encompasses very distinct morphologic subtypes of disease. This study examined and compared the phenotype in TD variants and searched for genetic alterations in sporadic thyroid hypoplasia (TH), the most misdiagnosed form of CH. This(More)
INTRODUCTION Amiodarone (AMD) is an antiarrhythmic agent which contains 37% of iodine. It can reach the fetus by transplacental passage and induce transient congenital hypothyroidism (TCH). We report two cases of TCH caused by gestational exposure to AMD, detected by the Newborn Screening Program for Congenital Hypothyroidism of the State of Paraná-Brazil.(More)
We assessed body composition and muscle strength during the transition phase in 18 growth hormone (GH) deficient males treated with recombinant GH to final height and 18 controls. According to peak-stimulated GH and basal insulin-like growth factor-1 (IGF-1) during the transition phase, patients were subdivided into GH deficient (GHD-TP, n=9) and GH(More)
OBJECTIVE To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in(More)
Adrenocortical tumors (ACT) in children are uncommon. However, the incidence of these tumors in Paraná is 15 times higher than that worldwide. A germline mutation, R337H TP53, present in more than 95% of our patients, is probably the reason for the higher incidence in our state. A hundred twenty-five patients were treated in the period of 1966 to 2003.(More)
Sonography was utilized to evaluate 12 patients with hypertrophy of the septum of Bertin. To confirm the diagnosis, angiography was used in 7 patients and radionuclide imaging in 2. Three sonographic characteristics were found: (1) an isoechogenic, ellipsoid mass with an echogenic linear rim of renal sinus fat; (2) contiguity of the mass with a(More)
OBJECTIVES To evaluate diastolic function (DF) of children and adolescents with type 1 diabetes mellitus (DM1). SUBJECTS AND METHODS Cross-sectional study of 67 otherwise healthy diabetic patients, and a control group (n = 84) in regard to age, sex, body mass index (BMI), Dopplere-chocardiography, and ECG for both groups; and disease duration, HbA1C,(More)
The authors report on a patient with bilateral sacroillitis and positive HLA B27 who developed a pyoarthritis in one of the sacro-iliac joints. They comment the diagnostics difficulties in this type of septic arthritis and the association of the histocompatibility antigen B27 with pyogenic sacroiliitis.
PURPOSE The purpose of this study was to determine the prevalence of developmental defects of enamel in patients diagnosed with phenylketonuria (PKU). METHODS The study group consisted of 24 four- to 24-year-old subjects with PKU. The control group consisted of 24 healthy individuals. An examination for the detection of developmental defects of enamel was(More)