hrp0086rfc10.2 | Perinatal Endocrinology | ESPE2016

Dysregulation of Placental Mirna in Maternal Obesity is Associated with Pre-and Post-Natal Growth

Bassols Judit , Carreras-Badosa Gemma , Bonmati Alexandra , Ortega Francisco-Jose , Mercader Josep-Maria , Prats-Puig Anna , deZegher Francis , Ibanez Lourdes , Fernandez-Real Jose-Manuel , Lopez-Bermejo Abel

Background: Human placenta exhibits a specific miRNA expression pattern. Some of these miRNAs are dysregulated in pregnancy disorders like preeclampsia and intrauterine growth restriction (IUGR), and are potential biomarkers for these pathologies. No studies have been performed in maternal obesity.Objective and hypotheses: (1) Define the placental miRNA profile in pregnant women with: a) pre-pregnancy (preOB) or gestational obesity (gestOB), b) gestation...

hrp0092p3-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth Hormone Treatment of a Patient with X-Linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

hrp0089p3-p031 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Growth Hormone Treatment of 2 Patients with X-linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

hrp0089p1-p082 | Diabetes & Insulin P1 | ESPE2018

The Comparison of the Occurrence of Beta Cells Autoantibody and Regulatory T Cells (CD4+CD25+FoxP3+) in Patients with Type 1 Diabetes Mellitus, their Siblings and Healthy Children

Sieniawska Joanna , Krzewska Aleksandra , Ben-Skowronek Iwona

Background: Regulatory T cells (Treg) of phenotype CD4+CD25+FoxP3+ involves active suppression of excessive immune response. The population of Treg cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. Although there are many reports of investigations on human and animal populations, the role of regulatory T cells in the development of type 1 diabetes is still unclear.Objective and hypotheses: The aim of the study is t...

hrp0089p1-p084 | Diabetes & Insulin P1 | ESPE2018

The Comparison of the Occurrence of Beta Cells Autoantibody and Natural Killer Cells in Patients with Type 1 Diabetes Mellitus, Their Siblings and Healthy Children

Sieniawska Joanna , Krzewska Aleksandra , Ben-Skowronek Iwona

Background: Natural killer cells are a type of cytotoxic lymphocyte critical to the innate immune system. NK cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. However, little is known about the number of NK cells in healthy siblings of children with DM1.Objective and hypotheses: The aim of the study is to compare the population of NK cells and the correlation between NK cells and beta cells autoantibody in healthy ...

hrp0086p2-p166 | Bone & Mineral Metabolism P2 | ESPE2016

Diversity in Phenotype of Two Siblings and their with X-Linked Hypophosphatemic Rickets due to PHEX Mutation

Rojek Aleksandra , Kolesinska Zofia , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. The dominant form of X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene. XLHR phenotype is characterized mainly by rickets, bone deformities, short stature, dental anomalies, hypophosphatemia, low renal phosphate reabsorption, normal serum calcium level, hypocalciuria, normal/low serum level of vitamin D (1,25(O...

hrp0086p2-p262 | Diabetes P2 | ESPE2016

Comparison of the Occurrence of Islet Autoantibodies in Siblings of Patients with Type 1 Diabetes Mellitus to Healthy Children

Krzewska Aleksandra , Sieniawska Joanna , Ben-Skowronek Iwona

Objective and hypotheses: The aim of the study is comparison of the occurrence of islet autoantibodies in healthy siblings of children with T1DM to healthy children from non-diabetic families.Method: Determination of anti-decarboxylase of the glutamic acid antibodies (anti GAD-Ab), anti-protein tyrosine phosphatase (anti IA2), and antibodies against zinc transporter eight (anti ZnT8) in 75 children with T1DM, their siblings – 105, and 77 healthy chi...

hrp0084fc10.3 | Perinatal Endocrinology | ESPE2015

Circulating miRNA Expression Profile in Pregestational and Gestational Obesity

Bassols Judit , Carreras-Badosa Gemma , Bonmati Alexandra , Ortega Francisco-Jose , Mercader Josep-Maria , Prats-Puig Anna , Sacot Neus , deZegher Francis , Ibanez Lourdes , Fernandez-Real Jose-Manuel , Lopez-Bermejo Abel

Background: miRNAs are valuable circulating biomarkers and therapeutic targets for metabolic diseases. A differential pattern of miRNAs has been described in pregnant women with preeclampsia or gestational diabetes; however, it is unknown whether maternal obesity affects the profile of circulating miRNAs.Aims and objectives: To define the circulating pattern of miRNAs in pregestational and gestational obesity; and to explore their associations with mater...

hrp0095p1-22 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Resolution of severe constipation following a switch from calcium carbonate to recombinant human PTH therapy: A case report

Apperley Louise , Jarvis C , Ramakrishnan Renuka

Hypoparathyroidism is treated with oral calcium carbonate and vitamin D analogues to increase serum calcium levels. Recombinant human parathyroid hormone (rhPTH) therapy can be considered in patients with poorly controlled hypocalcaemia or side effects to conventional treatment. Constipation, a known side effect of calcium carbonate, is often easily managed with simple laxatives. We describe resolution of severe constipation by changing conventional treatment to rhPTH. A femal...

hrp0092p2-76 | Diabetes and Insulin | ESPE2019

Coexistence of Medium chain acyl-CoA dehydrogenase deficiency (MCADD) and Type 1 diabetes (T1D): A management challenge

Afreh-Mensah Donald , Agwu Juliana C.

Background: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive fatty acid β-oxidation defect. The enzyme is important in the breakdown of medium chain fats into acetyl-CoA to produce ketones, alternative energy source when glucose hepatic glycogen stores become depleted during prolonged fasting. In MCADD, during periods of fasting/ acute illness, there are insufficient ketones to compensate for the glucose energy deficit, ...