ESPE Abstracts

Background: DICER1 syndrome is caused by germline mutations in the DICER1 gene. It is associated with a wide spectrum of benign and malignant neoplasms, which are accompanied by specific somatic mutations in DICER1. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults; the thyroid ultrasound (US) features of MNG in the setting of DICER1 syndrome have not been widely reported.<...

Background: DICER1, a ribonuclease, cleaves non-coding small RNA precursors to generate mature microRNAs (miRNAs), of ~21 nucleotides in length. MiRNAs alter gene expression post-transcriptionally by directly binding to mRNA transcripts and subsequently down-regulating gene expression. It is estimated that expression of ~30–70% of all mammalian protein-coding genes are regulated in this manner.Method: Sequencing of DICER1 in various tumors, accompan...

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

Background: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

Introduction: Lysosomal Acid Lipase Deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesterol esters and triglycerides. Clinical manifestations are heterogeneous in terms of age of onset, severity and biochemical and radiological findings. Dyslipidemia, hepatomegaly and hepatosteatosis with hypertransaminasemia are the most common features. There is significant evidence of incre...

Background: In both asthma and vitamin D deficiency is common. The results from studies examining the relationship between them is contradictory.Objective and hypotheses: The aim of this study was to investigate the relationship vitamin D levels and clinical parameters of asthma in children.Method: One hundred twenty children with asthma, followed up in Pediatric Allergy and Immunology Department were included. Seventy-four childre...