ESPE Abstracts

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...

Background: Notch1 – Delta-like ligand 4 (Dll4) signaling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signaling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: 67-day-old mice were divided into oxygen-induced retinopathy group and control group. We took ten mice from each group at postnatal day 7 (p7...

Background: Notch1-Delta-like ligand 4 (Dll4) signalling pathway has a biological effect of negative feedback regulation to VEGF in retinal vascular development process. There are few studies on the inhibition of Notch1-Dll4 signalling pathway in ROP and the regulatory pathway of VEGF.Objective and hypotheses: To investigate the role that Notch1-DLL4 signal pathway played in the oxygen-induced retinal neovascularization of mice by analyzing the expressio...

Key words: Type 1 diabetes mellitus; Intestinal flora; metagenomic sequencing; cytokines; AutoimmunityObjective: This study aims to verify the effect of intestinal microbiota diversity on the disease development of T1DM mice model, and to explore the mechanism of intestinal microbiota in the development of type 1 diabetes mediated by related cytokines.Method: T1DM mouse model was e...

Background: Prader–Willi syndrome (PWS) is a rare genetic disorder associated with hyperphagia, and excessive weight gain. Patients with PWS are at elevated risk of developing morbid obesity and associated life-threatening complications. Although gut microbiota has been suggested to play a role in disease phenotypes, little is known about its composition and how it relates to hyperphagia.Objective: The aim of this ...

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

Background: The Hedgehog (HH) family plays an important role in the development, proliferation and homeostasis in various tissues and organs. Desert hedgehog(DHH), as a member of this family, is mainly involved in the normal development of testis and the formation of nerve sheath. DHH variation mainly causes 46, XY disorders of sex development (DSD) with or without minifascicular neuropathy(MN). Up to date, only 22 affected patients in detail have bee...

Cerebellar-facial-dental syndrome is a rare autosomal recessive disorder due to biallelic variants in the BRF1 gene. It is characterised by cerebellar hypoplasia, intellectual disability, dysmorphic facial features and short stature. There have been only 12 patients described in the literature to date. We report a case of a 9-year-old non-consanguineous Caucasian boy with cerebellar-facial-dental syndrome and multiple coexisting diagnoses, including Klinefelter syndrome (XXY k...

Objective: Inactivating mutations in the gene encoding the alpha-subunit of Gs (GNAS) gene, which consists of exons 1-13 and encodes the alpha-subunit of the stimulatory G protein (Gsa), are associated with several clinical syndromes, including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH).Method: We documented patient clinical characteristics a...

Objective: Through the diagnosis and treatment of Uighur girl with adrenocortical adenoma, who was complain of short stature, to prompt pediatric endocrinologists pay attention to hypercortisolism in the diagnosis and treatment of children with short stature.Methods: With the case report of hypercortisolism in a Uighur child, to introduce the diagnosis and treatment of adrenocortical adenoma, presenting the clinical char...