ESPE Abstracts

The ultimate therapy for type 1 diabetes is the replacement of the lost insulin producing cells instead of the actual life-saving but imperfect substitution of insulin. The isolation of embryonic stem cells (ESC) and later the reprogramming of somatic cells into induced pluripotent stem cells (iPSC) raised enormous hopes for cell based therapies in diabetes type 1. The first important stage in the differentiation process of ESC/iPSC is the generation of definite endoderm that ...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

This presentation will discuss the hormonal and neural mechanisms that support the beneficial and healing effects of loving relationships. Love is deeply biological and has profound effects on our mental and physical health, pervading every aspect of our lives. Without loving relationships or in isolation, humans fail to flourish, even if all of their other basic needs are met. Two neuropeptides, oxytocin and the related molecule, vasopressin, and their receptors, form an inte...

Background: Makorin RING finger protein 3 (MKRN3) is an important factor located on chromosome 15 in the imprinting Prader-Willi syndrome - associated region. Imprinted MKRN3 expressed in hypothalamic regions essential for puberty initiation and mutations have been found in patients with central precocious puberty (CPP). CPP caused by the early activation of pulsatile Gonadotropin releasing hormone (GnRH) secretion is clinically defined by the early maturation...

The pituitary gland dynamically remodels during key timepoints of life to meet the prevailing endocrine demands of the organism. Mechanisms underlying this plasticity remain poorly understood. In particular, it is not clear how the pituitary stem cells are involved and biologically behave during pituitary remodeling processes. Indeed, pituitary stem cells remain highly enigmatic regarding cellular complexity, regulatory circuits, niche make-up and functional role. In our studi...

Background: ALT-P1 (CJ-40002) is a long-acting recombinant growth hormone (GH) fused with NexP, which is a long-acting carrier developed by Alteogen Inc. NexP is a protein engineered recombinant alpha1 antitrypsin with further increased in vivo half-life without a native proteinase inhibitor activity. In non-clinical studies of cynomologus monkeys, the extended half-life of hGH-NexP has been successfully proved without side effects in high dose as 20 mg per kg dose.<p clas...

Background: Progranulin (PGRN) displays pleiotropic biological functions including on early embryogenesis, cell proliferation, lysosomal or neuronal functioning and wound repair, and has been proposed as a biomarker for metabolic diseases. Increased PGRN levels have been reported in type 2 diabetes, nonalcoholic fatty liver disease and in preeclampsia associated to placental dysfunction. However, the ontogeny of PGRN concentrations and the potential value of P...

Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP), characterised by developmental delay, short stature, obesity, hormone resistance and bone abnormalities. GNAS variants were recently described in 1% of patients in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling. Here, we report another novel GNAS variant in a family wit...

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Case Report: Two cases of type 2 diabetes mellitus (among which 1 case of metabolic syndrome) previously taken as type 1 diabetes mellitus in adolescents are presented and the evaluation and management are discussed. There was a family history of Diabetes mellitus in one of the adolescent. Both of them had signs of insulin resistance, they were overweight and obese respectively, poorly controlled on premix insulin. The laboratory test revealed a high HbA1C, dy...