IMPE Abstracts

Hematocrit was considered an uncontrollable variable that affects results of biomarkers in whole blood filter paper samples (FPS). NS methodologies are generally adjusted by assuming a standard hematocrit of 55%. Our group has previously presented a method to estimate hematocrit by measuring hemoglobin values in FPS. This correction has the potential to reduce the number of false positives, improve specificity in NS, and decrease the number of recalled patients.<p class="a...

Introduction: Overexpression of the imprinted locus at chromosome 6q24, in which PLAGL1 and HYMAI are located, causes transient neonatal diabetes mellitus (transient NDM, TNDM). Normally, expression of the maternal alleles of PLAGL1 and HYMAI is silenced by differentially methylated region (DMR) methylation. Although it is well known that duplication of 6q24 on the paternal allele causes TNDM (6q24-TNDM), phenotype of patern...

Background: Neonatal hypoglycemia is the most common metabolic condition in neonates. It affects about 15 % of all neonates and about 50 % of neonates born with risk factors, including maternal diabetes, large- or small-for-gestational age, or prematurity. While it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional neonatal hypoglycemia is tolerated during the first days of life ...

Introduction: The National Program for Strengthening Neonatal Screening (Ministry of Health, Argentina) provides diagnostic reagents to 20 provincial NS centers in Argentina. CAH NS requires the use of appropriate cut-off values in order to detect all true positive cases, minimizing the recall of false positive cases, to reduce the negative impact on families due to unnecessary alerts and the need of confirmatory tests. The NS Laboratory of Hospital of Pediatr...

Background: Congenital hyperinsulinism (CHI) is characterized by hyperinsulinemic hypoglycemia, conferring a high risk of neurodevelopmental impairment if not treated promptly and sufficiently. The conventional medications are often ineffective and while some forms of CHI are curable by surgery, new treatment modalities are advocated. Glucagon counteracts the action of insulin, but the use in CHI has been limited. We aimed to evaluate the efficacy and side eff...

Background: Hysterosalpingography (HSG) using oil-soluble contrast medium (OSCM) improves fertility with pregnancy rates of approximately 40% reported in women within six months of the procedure. However, OSCM has high iodine content and long half-life resulting in severe and persistent maternal iodine excess for up to 6 months. Any fetus conceived during this time would be exposed to a high iodine load with the potential for thyroid dysfunction from the Wolff...

Congenital Hyperinsulinism (CHI), a heterogenous complex disorder, is the commonest cause of refractory hypoglycaemia in infants. The treatment of diazoxide-unresponsive CHI is a major challenge in clinical practice.Objective: To study the clinical profile, molecular characterisation, response to long acting octreotide analogue (LAR) therapy and short term outcome in diazoxide unresponsive CHI presenting to our Centre.<p class="abste...

Recalled newborns in the screening for Congenital Adrenal Hyperplasia (CAH) could be due to analytical steroid interferences. Ultra-high pressure liquid chromatography coupled to tandem mass spectrometry (UHPLC-MS/MS) constitutes the gold standard for serum steroid quantification.Objective: To describe the serum profile of a panel of 8 adrenal steroids by UHPLC-MS/MS in recalled infants for CAH.Methods:</st...

Introduction: The prenatal diagnosis of fetal goiter is made by ultrasonography (US). Occasionally, clinical history and US findings may lead to the presumptive diagnosis of fetal hyper or hypothyroidism. Although, the dosage of thyroid hormones in fetal blood may exceptionally be necessary.Objective: To report the prenatal treatment and postnatal evolution of a child with fetal goiter.Pren...

Background: Persistent hypoglycemia in pediatric patients is the clinical manifestation of different hormonal and metabolic disorders and expose them to a high risk of brain damage. Appropriate management should include staggered strategy to achieve the underlying etiology.Aim: To describe an infant with recurrent hypoglycemia due to Stage 4 Neuroblastoma (4SNB) behaving as an “IGF2-OMA”.<p class="abstext...

Congenital hyperinsulinism (CH) is the occurrence of hypoglycemia due to insulin secretion unrelated to glycemic level. The prevalence of this disease is not known in Brazil and there is no report of clinical characteristics of the cases. The Congenital Hyperinsulinism Association (HIC) was created by parents of children with CH. In order to know the clinical and demographic characteristics of children and adolescents with CH, a standard questionnaire was designed to be applie...