hrp0089p3-p119 | Diabetes & Insulin P3 | ESPE2018

A Rare Cause of Severe Anemia in a Patient with Type 1 Diabetes

Piekarski Robert , Bury Anna , Beń-Skowronek Iwona

Introduction: Anemia in children is still quite common, sometimes it is a secondary symptom of another rare disorder. Rendu-Osler-Weber disease, a genetically determined haemorrhagic diathesis, is characterized by the occurrence of vascular malformations leading to bleeding from the nose, skin and mucous membranes and to various internal organs. Diagnosis facilitates the occurrence of the disease in relatives of the first degree, however, due to the progressive nature of vascu...

hrp0082p1-d1-63 | Diabetes | ESPE2014

Th17 Cells in Children with New Onset Type 1 Diabetes

Piekarski Robert , Ben-Skowronek Iwona , Bojarska-Junak Agnieszka , Tabarkiewicz Jacek , Szewczyk Leszek

Background: A recent data indicates a complex mechanism of β-cell destruction in type 1 diabetes in which despite Th1/Th2 bias different other populations of immune cells like Th17 with specific IL17A secretion with proinflammatory action will mediate β cells autoreactivity. In humans, the relevance of Th17 cells in new onset T1DM is still controversial.Objective and hypotheses: The aim of our study was to evaluate circulating Th17 in children ...

hrp0082p3-d1-984 | Thyroid | ESPE2014

Thyroid Disorders After Oncologic Treatment in Children

Ben-Skowronek Iwona , Sadurska Elzbieta , Prazmo-Zaucha Agnieszka , Piekarski Robert , Kowalczyk Jerzy

Background: The length of patient survival after cancer treatment is increasing and in some cases does not differ from the average life span in healthy individuals.Objective and hypotheses: The aim of the study is evaluation of thyroid function after oncologic treatment in children.Method: A group of 158 patients aged 16–25 who underwent oncologic treatment in childhood and the control group −66 children and young adults...

hrp0086p2-p269 | Diabetes P2 | ESPE2016

Which Group of Children Achieved the Best Results During Insulin Pump Therapy – Long-term Outcome in Children with Type 1 Diabetes?

Ben-Skowronek Iwona , Piekarski Robert , Wysocka Beata , Bury Anna , Banecka Bozena , Krzewska Aleksandra , Sieniawska Joanna , Kabat Magdalena , Rebowicz Katarzyna , Osiak Wiktoria , Szewczyk Leszek

Background: CSII has some potential advantages and disadvantages for young children. For many young patients, it is easier and more convenient to take multiple daily doses of insulin with CSII than with a syringe or insulin pen.Objective and hypotheses: The growing popularity of type 1 diabetes (DM1) treatment based on continuous subcutaneous insulin infusion (CSII) raises a question of the group of patients that benefit most from the treatment.<p cl...

hrp0086pl4 | Genomic imprinting and evolution | ESPE2016

“Genomic Imprinting and Evolution”

Feil Robert

Genomic imprinting in mammals is controlled by DNA methylation. This essential epigenetic phenomenon mediates the mono-allelic expression of about hundred autosomal protein-coding genes and hundreds of regulatory non-coding RNAs, such that these become expressed from one of the two parental alleles only. Although the first imprinted genes were discovered less than thirty years ago, given their key roles in fetal development, homeostasis and brain functions, these exceptional g...

hrp0082p3-d3-805 | Gonads and Gynaecology | ESPE2014

The Genotypic and Phenotypic Variability of Mixed Gonadal Dysgenesis

Grimbly Chelsey , Couch Robert , Girgis Rose

Background: Mixed gonadal dysgenesis is most commonly associated with 45,XO/46,XY karyotype.Objective and hypotheses: We report three cases that illustrate the genotype and phenotype variability of mixed gonadal dysgenesis.Methods: Data was extracted from Pediatric Endocrinology charts in a tertiary care centre after consenting the parents.Results: i) A 13 year old patient, 45,XO/46,X, isodicentric Y chromoso...

hrp0089fc2.6 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Final Height is Negatively Related to Disease Burden in Mitochondrial Disease

Boal Rachel , Ng Yi Shiau , McFarland Robert , Cheetham Tim

Context: Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between growth, stature and muscle phenotype.Objectives: To examine growth and final height in patients with genetically confirmed mitochondrial disease, to describe growth patterns in the principle underlying genetic subgroups and to establish whether stature is related to disease severity.<p class="abstext...

hrp0086fc9.3 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Gastrointestinal Dysmotility and Pancreatic Exocrine Insufficiency as Newly Recognised Possible Features in Two Siblings with Donohue Syndrome

Kostopoulou Eirini , Shah Pratik , Semple Robert , Ahmad Noman , Hussain Khalid

Background: Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria.Case reports: We report two siblings with Donohue syndrome with typical dysmorphic features and multiple clinical and biochemical characteristics. G...

hrp0086p2-p173 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bartter Syndrome with Bone-Destroying Hyperparathyroidism: About Two Cases, Genetically Proved, with Long-Lasting Follow-Up

Novo Robert , Cartigny Maryse , Lefevre Christine , Weill Jacques

Background: Bartter syndrome represents a rare severe condition, autosomal recessive, corresponding to several genes, characterized by an illness of the renal ascending branch of the handle of Henle. Only 15 cases of BSHPT have been communicated, either in publications or orally, but none presented such severe bone manifestation as ours.Objective and hypotheses: To present bone features of two patients suffering from severe BHSPT, so as the therapeutic a...

hrp0086p2-p522 | Fat Metabolism and Obesity P2 | ESPE2016

The Effect of Demographic and Lifestyle Factors on One-year BMI Increments in 776 Norwegian Children Aged 6–15 Years

Kristiansen Hege , Roelants Mathieu , Bjerknes Robert , Juliusson Petur

Background: There is limited information on the ability of demographic or lifestyle factors to predict short term changes in weight status during childhood.Objective and hypotheses: To study the effect of parental (educational level, BMI status and perception of child’s weight status) and childhood factors (eating habits, sedentary behaviour and physical activity), on 1-year BMI increments by the use of BMI, BMI SDS and BMI SDS conditional gain....