COMPLEXITY OF PEDIATRIC CHRONIC DISEASE: CROSS-SECTIONAL STUDY WITH 16,237 PATIENTS FOLLOWED BY MULTIPLE MEDICAL SPECIALTIES.

Objective: To assess demographic data and characteristics of children and adolescents with pediatric chronic diseases (PCD), according to the number of specialties/patient.

Methods: We performed a cross-sectional study with 16,237 PCD patients at outpatient clinics in one year. Data were analyzed by an electronic data system, according to the number of physician appointments for PCD.

Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata's disease) in a hypoglycemic child: a case report and review of the literature.

Background Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycemia (HH) not addressed as a potential differential diagnosis in current pediatric guidelines. We present a case of IAS in a child with no previous history of autoimmune disease, no previous intake of triggering medications and absence of genetic predisposition. Case presentation A 6-year-old boy presented with recurrent HH (blood glucose of 26 mg/dL [1.

Translation and validation of Pediatric Quality of Life Inventory™ 3.0 Diabetes Module (PedsQL™ 3.0 Diabetes Module) in Brazil-Portuguese language.

Objective: The aim of the present study was to create a translated version of the Pediatric Quality of Life Inventory™ 3.0 Diabetes Module (PedsQL™ 3.0 Diabetes Module) in Brazilian Portuguese that was conceptually equivalent to the original American English version and to linguistically validate it in a Brazilian pediatric population with type 1 diabetes mellitus and their parents or caregivers.

Translation and validation of diabetes self-management profile (DSMP) into Brazilian Portuguese language: first instrument to assess type 1 diabetes self-management in a pediatric population.

Objective: To translate and validate the instrument Diabetes Self-Management Profile (DSMP)-Conventional and Flexible Regimens into Brazilian Portuguese language in order to evaluate the quality of diabetes self-management in children and adolescents with type 1 diabetes and their caregivers.

Methods: DSMP was submitted to forward and back translation method and validated in a group of type 1 diabetes youths between 6 and 18 years (n = 102), and their families. Analysis of DSMP internal consistency, intra and interobserver reliability and concurrent correlation with HbA1c were done.

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Aims: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data.

Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report.

Health-related quality of life in patients with type 1 diabetes mellitus in the different geographical regions of Brazil: data from the Brazilian Type 1 Diabetes Study Group.

Background: In type 1 diabetes mellitus (T1DM) management, enhancing health-related quality of life (HRQoL) is as important as good metabolic control and prevention of secondary complications. This study aims to evaluate possible regional differences in HRQoL, demographic features and clinical characteristics of patients with T1DM in Brazil, a country of continental proportions, as well as investigate which variables could influence the HRQoL of these individuals and contribute to these regional disparities.

Methods: This was a retrospective, cross-sectional, multicenter study performed by the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG), by analyzing EuroQol scores from 3005 participants with T1DM, in 28 public clinics, among all geographical regions of Brazil.

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.

Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).

Methods: Electronic message was sent to members from Endocrinology Department- Brazilian Society of Pediatrics requesting clinical data for all cases of CHH. A whole blood sample from living patients was requested for DNA extraction followed by a search for mutations of the genes ABCC8, KCNJ11, GCK, GLUD1, HADH, SLC16A1 and HNF4A.

Determinants of intensive insulin therapeutic regimens in patients with type 1 diabetes: data from a nationwide multicenter survey in Brazil.

Background: To evaluate the determinants of intensive insulin regimens (ITs) in patients with type 1 diabetes (T1D).

Methods: This multicenter study was conducted between December 2008 and December 2010 in 28 public clinics in 20 Brazilian cities. Data were obtained from 3,591 patients (56.

Relationship between adherence to diet, glycemic control and cardiovascular risk factors in patients with type 1 diabetes: a nationwide survey in Brazil.

Background: To determine the relationship between adherence to the diet reported by patients with type 1 diabetes under routine clinical care in Brazil, and demographic, socioeconomic status, glycemic control and cardiovascular risk factors.

Methods: This was a cross-sectional, multicenter study conducted between December 2008 and December 2010 in 28 public clinics in 20 Brazilian cities. The data was obtained from 3,180 patients, aged 22 ± 11.

A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.

Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.

Regional differences in clinical care among patients with type 1 diabetes in Brazil: Brazilian Type 1 Diabetes Study Group.

Background: To determine the characteristics of clinical care offered to type 1 diabetic patients across the four distinct regions of Brazil, with geographic and contrasting socioeconomic differences. Glycemic control, prevalence of cardiovascular risk factors, screening for chronic complications and the frequency that the recommended treatment goals were met using the American Diabetes Association guidelines were evaluated.

Methods: This was a cross-sectional, multicenter study conducted from December 2008 to December 2010 in 28 secondary and tertiary care public clinics in 20 Brazilian cities in north/northeast, mid-west, southeast and south regions.

Economic status and clinical care in young type 1 diabetes patients: a nationwide multicenter study in Brazil.

The aim of this study is to evaluate the influence of economic status on clinical care provided to Brazilian youths with type 1 diabetes in daily practice, according to the American Diabetes Association's guidelines. This was a cross-sectional, multicenter study conducted between 2008 and 2010 in 28 public clinics in Brazil. Data were obtained from 1,692 patients (55.

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.

Wolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco. We have observed in case 1 a homozygous C > T replacement at base pair c.

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.

MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevated T3, low total and free T4, and mildly elevated TSH serum levels.

[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].

Objective: To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP.

Subjects And Methods: Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed.

Alternative management of diabetic ketoacidosis in a Brazilian pediatric emergency department.

DKA is a severe metabolic derangement characterized by dehydration, loss of electrolytes, hyperglycemia, hyperketonemia, acidosis and progressive loss of consciousness that results from severe insulin deficiency combined with the effects of increased levels of counterregulatory hormones (catecholamines, glucagon, cortisol, growth hormone). The biochemical criteria for diagnosis are: blood glucose > 200 mg/dl, venous pH <7.3 or bicarbonate <15 mEq/L, ketonemia >3 mmol/L and presence of ketonuria.

Congenital hyperinsulinism in Brazilian neonates: a study of histology, KATP channel genes, and proliferation of β cells.

Congenital hyperinsulinism (CHI) is a rare pancreatic β-cell disease of neonates, characterized by inappropriate insulin secretion with severe persistent hypoglycemia, with regard to which many questions remain to be answered, despite the important acquisition of its molecular mechanisms in the last decade. The aim of this study was to examine pancreatic histology, β-cell proliferation (immunohistochemistry with double staining for Ki-67/insulin), and β-cell adenosine triphosphate-sensitive potassium channels genes from 11 Brazilian patients with severe medically unresponsive CHI who underwent pancreatectomy. Pancreatic histology and β-cell proliferation in CHI patients were compared to pancreatic samples from 19 age-matched controls.

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Objective: Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry mutations in this gene. However, some studies have provided evidence for genetic heterogeneity and the genotype-phenotype relationships are not clear.

[Prader-Willi syndrome: metabolic aspects related to growth hormone treatment].

Aim: The focus of this study was to evaluate the metabolic profile of Prader-Willi Syndrome (PWS) patients treated with growth hormone.

Patients And Methods: Seven patients (four boys and three girls) with ages between six years and six months and 14 years and 11 months were treated with GH 0.1 U/kg/day subcutaneous by six times a week, for two years.

Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.

Familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT) are consequent to inactivating mutations of the calcium-sensing receptor (CaR) gene. FHH is usually associated with heterozygous inactivating mutations of the CaR gene, whereas NSHPT is usually due to homozygous inactivation of the CaR gene. FHH is generally asymptomatic and is characterized by mild to moderate lifelong hypercalcemia, relative hypocalciuria, and normal intact PTH, whereas individuals with NSHPT frequently show life-threatening hypercalcemia.

[Home glycemic profiles as an strategy for insulin therapy adjustments in patients with type 1 diabetes mellitus].

The goal of this paper is to characterize the glycemic profiles of patients with type 1 diabetes mellitus like a strategy in insulin adjustments. A total of 3259 tests were realized being 781 before breakfast, 752 before lunch, 765 before dinner and 740 before bed and 221 in the dawn. The average of the blood glucose tests in these periods overstepped the superior limits in 6.

[Evaluation of 2 home monitoring schemes in patients with type 1 diabetes mellitus].

The goal of this study was to evaluate the effectiveness of two monitoring schemes(blood and urine) in the metabolic control of type 1 diabetic patients, in biweekly therapeutic adjustments, along 6 months of participation in the educational groups. A sample of 34 patients was divided in two groups. The interventions proposed to group A were daily blood glucose monitoring, during three consecutive days for each period (before breakfast, before lunch, before dinner and before bed) and biweekly in the dawn.

Precocious puberty: an endocrine manifestation in congenital toxoplasmosis.

We reviewed retrospectively seven children with congenital toxoplasmosis and precocious puberty. All seven showed very high levels of LH (25.2-155.