hrp0086p2-p870 | Syndromes: Mechanisms and Management P2 | ESPE2016

Children with Down’s Syndrome Show Quantitative, Phenotypical and Functional Differences of Effector T-Cells Compared to Immunocompetent Controls

Schoch Justine , Schmidt Tina , Jung Anna-Maria , Kastner Michael , Abdul-Khaliq Hashim , Gortner Ludwig , Sester Martina , Rohrer Tilman

Background: Trisomy 21 is associated with an increased susceptibility to respiratory infections.Objective and hypotheses: For a more detailed characterization of the adaptive immune response, we analyzed the cellular and humoral immunity to specific pathogens in blood samples of 40 children with Down’s syndrome in comparison to 51 age-matched controls.Method: We quantitatively analyzed lymphocyte subpopulations using flow cyto...

hrp0089p3-p254 | Growth & Syndromes P3 | ESPE2018

Woodhouse-Sakati Syndrome: Clinical and Molecular Study on a Qatari Family with C2orf37 Gene Mutation

Al-Khawaga Sara , Khalifa Amal , Hussain Khalid

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

hrp0084p3-1066 | Hypo | ESPE2015

Congenital Hyperinsulinism in a Newborn with a Novel Paternally Inherited Heterozygous Mutation (p.E1517G) in the ABCC8 Gene

Elbarbary Nancy , Ellard Sian , Hussain Khalid

Background: Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycaemia in infancy.Case presentation: Here we describe an Egyptian male neonate first order of birth born to non-consanguineous healthy parents. At day 1 of age he presented with severe hypoglycemia and generalised seizures. At the time of hypoglycaemia (16 mg/dl) insulin and C-peptide levels were increased (insul...

hrp0098p2-105 | Fat, Metabolism and Obesity | ESPE2024

Successful Semaglutide Treatment in Two Sisters with Congenital Leptin Deficiency and Hyperphagia

Dauleh Hajar , Mohammed Idris , Hussain Khalid

Background: Congenial Leptin deficiency (CLD) manifests as severe obesity, hyperphagia, and metabolic complications. While Metroleptin is the treatment of choice, its cost makes it inaccessible for many. We present two sisters, aged 14 and 7, diagnosed with CLD, who had significant improvement with the glucagon-like peptide-1 (GLP-1) receptor agonist, Semaglutide. Both experienced notable reduction in body weight and metabolic markers with Semaglutide, highlig...

hrp0098p2-120 | Fat, Metabolism and Obesity | ESPE2024

Whole Genome Sequencing reveals a novel leptin splice region variant in two siblings with morbid childhood obesity.

Mohammed Idris , Al-Barazenji Tara , Hussain Khalid

Background: Congenital leptin deficiency (CLD) is an extremely rare condition due to homozygous pathogenic mutations in the leptin (LEP) gene. The clinical manifestation of patients with CLD is severe early-onset obesity and hyperphagia. Most patients with pathogenic homozygous leptin gene mutations have low or undetectable leptin levels, whereas few cases show high bio-inactive circulating leptin levels. To date, around 20 variants in the LEP gene have been d...

hrp0098p3-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Incomplete penetrance and Variable Expressivity in Monogenic Diabetes

Chirayath Shiga , Al-Maraghi Aljazi , Mohammed Idris , Mohamadsalih Ghassan , Amin Rasha , Fakhro Khalid , Hussain Khalid

Introduction: Mendelian diseases are rare individually but collectively are estimated to affect more than 5% of global population with more than 6000 different rare phenotypes including monogenic forms of diabetes. The proportion of individuals who possess a particular genotype and exhibit the expected phenotype is defined as the penetrance of that genotype. If everyone with the genotype presents with clinical symptoms by a particular age, then it is said to b...

hrp0092fc9.1 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Using CRISPR/Cas9 Gene Editing to Study the Molecular Mechanisms of Congenital Hyperinsulinism (CHI)

Purushothaman Preetha , Walker Amy , Maeshima Ruhina , Hussain Khalid , Hart Stephen

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused...

hrp0092p1-311 | Diabetes and Insulin (2) | ESPE2019

Optimisation of Transfection Methods Using DNA, RNA and Protein Formats for CRISPR Cas9 Mediated Gene Knock out in Beta-TC-6 Cells.

Purushothaman Preetha , Walker Amy , Hussain Khalid , Hart Stephen

Background: Beta-tumour cells (βTC) are a group of highly differentiated beta cell lines derived by expression of the SV40 T antigen (Tag) oncoprotein under control of the insulin promoter in transgenic mice. βTC-6 cells exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate insulin secretion.The CRISPR/Cas9 genome-editing platform is a versatile and pow...

hrp0089p3-p112 | Diabetes &amp; Insulin P3 | ESPE2018

Diabetic Ketoacidosis among Egyptian Children with Type 1 Diabetes: 3-Years Study

Karem Mona , Alsabahy Khalid , Elfiky Ahmed , Meshref Ahmed , Akl Heba

Introduction: Diabetic Ketoacidosis (DKA) is one of the acute complications of type 1 diabetes. It is a life-threatening condition that varies in severity and prognosis from patient to another. In Egypt, there is no available data about the socio-demographic characteristics as well as the DKA severity determinants among childrenObjective: 1. To identify demographic, clinical and laboratory variables of pediatric patients diagnosed with DKA at Suez Canal ...

hrp0086lbp4 | (1) | ESPE2016

Sirolimus Precipitating Diabetes in a Patient with Congenital Hyperinsulinism due to Autosomal Dominant ABCC8 Mutation

Dastamani Antonia , Guemes Maria , Shah Pratik , Hussain Khalid

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...