ESPE Abstracts

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...

Despite the fact that patients with diabetes and medical staff are doing their best to achieve tight glycemic control, most patients all over the world do not achieve the goal. Good glycemic control is crucial to prevent diabetes related complications as well as hypoglycemic episodes, seizure, coma and death. The Diabetes wiREless Artificial Pancreas ConsortiuM (DREAM) was established by three diabetes centers in Slovenia, Germany and Israel, with a goal to reduce the risk of ...

Objective: This study aims to evaluate the effectiveness and efficiency of weight-based threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborns for 21 hydroxylases deficiency-congenital adrenal hyperplasia (CAH)Design: In April 2021 CAH screening was incorporated into the ongoing newborn screening program at aga khan university Hospital Karachi Pakistan,17OHp was assayed through Spectro fluorometry of ...

Background: Rates of pediatric obesity are on a concerning upward trajectory globally, with the prevalence approaching 1 in 5 children and adolescents aged 2-19 years in the United States. As a direct consequence of this obesity surge, we will continue to experience a substantial adult cardiometabolic burden. Although public health measures to optimize lifestyle interventions and reduce culpable environmental exposures are the primary target for governments an...

Background: Vascular Endothelial Growth Factor (VEGF) is largely produced by adipose tissue and is an important regulator of physiological and pathological angiogenesis in adults with obesity.Objective and hypotheses: To determine the nature of VEGF production and its connection to the formation of vascular complications in patients with childhood obesity.Method: In 87 children (42 boys and 45 girls) 9–17 years old with obesit...

Background: Neonatal screening is a preventive strategy for various endocrine, metabolic and genetic conditions. Congenital hypothyroidism (CH) is one of the most common preventable and treatable causes of intellectual disability, and delayed diagnosis can lead to disastrous consequences. Incidence of CH is1:3000-1:4000 neonates worldwide but data varies globally. Pakistan lacks a national newborn screening programme for any inherited disease, but Aga Khan Uni...

Introduction Up to 75% of Cerebral palsy(CP) children are of spastic diplegic & quadriplegic types with severe malnutrition found in 35% of them which is multifactorial. Motor impairment is strongly corelated with Gross Motor Function Classification(GMFCS) level 3 and above, malnutrition, and low bone mineral density(BMD) assessed via dual energy x-ray absorptiometry(DXA) scan. These children have low age adjusted BMD z scores <-2SD subsequently increas...

Background: Monogenic diabetes (MD) remains undiagnosed in more than 90% of the cases. However, precise, quick and cost-effective diagnosis is important to choose an adequate treatment and to avoid long-term complications.Objective and hypotheses: To develop and validate a diagnostic tool to improve diagnosis rate of MD in Switzerland, as well as to open new research directions.Method: Targeted next-generation sequencing (NGS) of 3...

Background and aims: Folate and vitamin B12 are methyl donors (MD) needed for the synthesis of methionine, which is the precursor of S-adenosylmethionine (SAM), the substrate of methylation in epigenetic, and epigenomic pathways. Low dietary intakes of folate and vitamin B12 are frequent, especially in pregnant women and in the elderly, and deficiency constitutes a risk factor for various diseases. The MD deficiency (MDD) leads to a decrease in SAM:SAH (S-ade...

Background: Patients with PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome and germ line mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. Rapamycin was shown to reduce the growth of lipoma cells with heterozygous PTEN deficiency in vitro, but concomitantly induced an up regulation of AKT phosphorylation.Objective and hypotheses: Since it was shown that resveratrol stabilizes PTEN,...