hrp0082wg2.7 | Global paediatric Endocrinology and Diabetes | ESPE2014

Long Acting Insulin: Friend or Foe?

de Beaufort Carine

Current treatment in type 1 diabetes focuses on the development of physiological insulin replacement. Although this has led to the increased progress in the development of semi closed loop systems and different algorithms allowing this, the majority of youth still has to cope with insulin injections. Improving metabolic outcome with injection therapy has become more demanding, imposing an increased number of injections and improved knowledge of food composition. For those able...

hrp0082p3-d3-864 | Growth (4) | ESPE2014

The Establishment of a New Paediatric Endocrinology Training Programme in South Africa

de Villiers Francois

Background: During the 1980s there were no officially accredited training programmes for subspecialty training in South Africa. Accordingly, doctors with accreditation from other countries, or with extensive experience in the subspecialty, were recognised as subspecialists, based on peer review.Objective and hypotheses: The objective of this poster was to document the development of a new Paediatric Endocrinology programme in a previously disadvantaged m...

hrp0084s10.1 | Growth plate in chronic diseases | ESPE2015

Molecular Mechanisms of Growth Plate Adaptation During Undernutrition

De Luca Francesco

It is known that almost 180 million children in the world have stunted growth. Most of these children live in eastern and central Africa and in South-central Asia. Among multiple factors causing stunted growth in the developing world, malnutrition is the most important one. On the other hand, reduced caloric intake is also a cause of poor statural growth in developed countries.Mammals, including humans, exposed to malnutrition experience poor bone growth...

hrp0084wg1.2 | Bone & Growth Plate | ESPE2015

The Role of NFkB in Growth Plate Chondrogenesis

De Luca Francesco

Nuclear Factor kappa B (NF-κB) is a group of seven transcription factors, including p65 (RelA), c-Rel, RelB, p50/p105 (NF-κB1), and p52/p100 (NF-κB2). Upon activation by a wide variety of stimuli, NF-κB translocates to the nucleus, where it modulates the expression of target genes involved in cell growth, survival, and death.Previous evidence indicates that NF-κB regulates bone growth and development. Mice deficient in both the N...

hrp0084p3-1248 | Programming & Misc. | ESPE2015

The Development of a Publication Presentation Workshop: Enhancing the Publication of African Paediatric Endocrinological Research

de Villiers Francois

Background: There is much activity in Africa in Paediatric Endocrinology. The international societies, ESPE, and ISPAD helped significantly in the development of paediatric endocrinology training. Considerable research is being done at the PETCA in Kenya, PETWCA in Lagos and elsewhere, but too few of the studies are published. Owing to the pressure of clinical work in Africa most endocrinologists have difficulty in completing their research.Objective and...

hrp0094s5.1 | Novel Therapies in Endocrinology | ESPE2021

Novel Therapies in the Treatment of Congenital Hyperinsulinism

De Leon-Crutchlow Diva ,

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children. In the past 20+ years there have been tremendous advances in the understanding of the molecular genetics of HI, including the discovery of the mechanisms responsible for a focal form of the disease that can cured surgically. However, treatment options for non-focal HI continue to be limited, with only one drug currently approved for this indication. As a result of delay...

hrp0094p2-93 | Bone, growth plate and mineral metabolism | ESPE2021

Characterization of Patients with Achondroplasia in a pediatric clinic of Cali, Colombia.

de Beldjnna Liliana Mejia ,

Introduction: Achondroplasia is the most common of the skeletal dysplasias and short stature with severe anatomic disproportion. Bone endochondrial growth is affected. The entity was described by Depaul in 1851 and the name which comes from the Greek word chondros (cartilage) and plasis (formation) was given by Parrot. It is an autosomal dominant monogenic disease with complete penetrance. Incidence is 1/25000 to 1/40000 of live births. It is caused by a mutat...

hrp0097rfc13.4 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Trio analyses of patients with congenital hypopituitarism reveals novel candidate genes

de Azevedo Correa Fernanda , Habibi Imen , Kolesinska Zofia , Zouaghi Yassine , Zhai Jing , Phan-Hug Franziska , Antoniou Maria-Chiristina , Pignatelli Duarte , Lang-Muritano Mariarosaria , Marek Niedziela , l'Allemands Dagmar , Papadakis Georgios , Ameti Adelina , Messina Andrea , J. Niederlander Nicolas , Boizot Alexia , Santoni Federico , S. Acierno James , Pitteloud Nelly

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

hrp0084p1-55 | Diabetes | ESPE2015

Intrauterine Growth Restriction is Associated with Greater Severity in Childhood Obesity-Associated Metabolic Impairment and Poorer Adult Height Prediction

Gonzalez-Leal Rocio , Martinez-Villanueva Julian , Argente Jesus , Martos-Moreno Gabriel A.

Background: Intrauterine growth influences the risk of childhood obesity and its associated metabolic derangement.Objective and hypotheses: To investigate the effect of intrauterine growth (as shown by newborn anthropometry) on physical and metabolic features in obese children and adolescents.Method: A retrospective study of 1049 obese children and adolescents (46.8% females/53.2% males; age: 10.31±3.23 years; BMI: +4.00±...

hrp0084p2-356 | Fat | ESPE2015

Physical and Metabolic Evolution of Obese Children and Adolescents after the Attainment of Intense Weight Reduction

Martos-Moreno Gabriel A , Martinez-Villanueva Julian , Gonzalez-Leal Rocio , Argente Jesus

Background: Despite the lack of drugs, conservative management of childhood obesity allows for considerable weight reduction.Objective and hypotheses: i) To evaluate anthropometric and metabolic changes in obese children after intense weight loss. ii) To analyze the influence of the amount of weight loss and the time spent to attain it on the observed changes. iii) To investigate BMI evolution during the first 3 years after weight reduction.<p class=...