ESPE Abstracts

ESPE Abstracts

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Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Presentations

Autoimmune Endocrine Disease

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hrp0082p1-d2-23 | Autoimmune Endocrine Disease | ESPE2014

Analysis of Zinc Transporter ZnT8 Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Bossowski Artur , Borysewicz-Sanczyk Hanna , Glowinska-Olszewska Barbara , Sawicka Beata , Bossowska Anna , Michalak Justyna , Furmaniak Jadwiga

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. ZnT8 autoantibodies (ZnT8 Ab) next to glutamic acid decarboxylase antibodies (GAD Ab), insulin autoantibodies (IAA), and islet antigen-2 antibodies (IA-2 Ab) have been described as markers of autoimmune process ...
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hrp0082p1-d2-24 | Autoimmune Endocrine Disease | ESPE2014

Final Height and BMI in English and Italian Adult Survivors of Childhood Acute Lymphoblastic Leukemia Treated without Cranial Radiotherapy

Bruzzi Patrizia , Albanese Assunta , Nussey Stephen , Predieri Barbara , Iughetti Lorenzo , Leiper Alison

Background: Adult survivors of childhood Acute Lymphoblastic Leukemia (ALL) treated with protocols including cranial radiotherapy (CRT) demonstrate a persistent increased BMI and a reduced final height (FH).Objective and hypotheses: We investigated the effect of chemotherapy alone (CT) on BMI and FH in an international cohort of childhood ALL survivors.Method: English patients (61% female) treated on UKALL XI protocol without CRT a...
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hrp0082p1-d2-25 | Autoimmune Endocrine Disease | ESPE2014

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: New Insights into Phenotype and Genotype*

Valenzise Mariella , Aversa Tommaso , Fierabracci Alessandra , Porcelli Paolo , Betterle Corrado , De Luca Filippo

Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and Addison’s disease (AD).Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected b...
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hrp0082p1-d2-26 | Autoimmune Endocrine Disease | ESPE2014

Abstract withdrawn....
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hrp0082p1-d2-27 | Autoimmune Endocrine Disease | ESPE2014

Late Endocrine Effects Despite Reduced Intensity Chemotherapy for Bone Marrow Transplantation in Children

Howell Jonathan , Myers Kasiani , Lane Adam , Wallace Gregory , Jodele Sonata , Rose Susan

Background: Bone marrow transplantation (BMT) is known to affect endocrine function, most commonly causing primary hypothyroidism and hypogonadism in children. Newer reduced intensity conditioning (RIC) uses less myeloablative chemotherapy and no irradiation. Our study goal was to evaluate endocrine effects at 1 year post BMT in pediatric patients who received RIC.Methods: Retrospective, IRB-approved chart review was performed on 121 patients (44 females...
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hrp0082p1-d2-28 | Autoimmune Endocrine Disease | ESPE2014

Immune Changes are Observed After Radioiodine Treatment for Hyperthyroidism in Graves’ Disease Patients

Cote-Bigras Sarah , Verreault Jean , Rottembourg Diane

Background: Graves’ disease (GD) involves autoimmunity against TSH receptor (TSHR) bearing cells, leading to hyperthyroidism and often orbitopathy. When hyperthyroidism is treated with radioactive iodine (RAI), exacerbation of the orbital disease can occur.Objective and hypotheses: We hypothesized that RAI has immune effects affecting the balance between auto-reactive T cells and T cells with regulatory properties.Method: We m...
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hrp0082p1-d2-29 | Autoimmune Endocrine Disease | ESPE2014

Standard Population Screening for Diabetes Mellitus has Low Sensitivity in Identifying Diabetes in Adult Survivors of Childhood Bone Marrow Transplantation with Total Body Irradiation

Wei Christina , Unsworth Rebecca , Davis Nikki , Elson Ruth , Bradley Karin , Stevens Michael , Crowne Elizabeth

Background: Adult survivors of childhood leukaemia treated Bone marrow transplantation with total body irradiation (BMT/TBI) have an increased risk of diabetes mellitus (DM) disproportionate to their level of adiposity or other recognised risk factors. Post prandial hyperglycaemia due to reduced β-cell reserve after irradiation will be missed by fasting glucose (FG) levels. However, the UK National Institute of Clinical Excellence (NICE) screening guidelines recommend the...
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hrp0082p1-d2-30 | Autoimmune Endocrine Disease | ESPE2014

Managing Children with Thickened Pituitary Stalk and/or Idiopathic Central Diabetes Insipidus: a Single Centre Experience on 63 Children

Cerbone Manuela , Ederies Ash , Losa Laura , Moreno Carolina , Sun Kristi , Spoudeas Helen A

Background and objective: Children with Thickened pituitary stalk (TPS) and/or Idiopathic central diabetes insipidus (ICDI) present to different (endocrine, oncology, and ophthalmology) specialists. Their rarity, absence of agreed radiological criteria or consensus guidance, make their management problematic. Biopsy is too dangerous and cases may remain undiagnosed or evolve over decades. We aimed: i) to longitudinally characterize a large childhood cohort presenting with TPS ...
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hrp0082p1-d2-31 | Autoimmune Endocrine Disease | ESPE2014

Primary Pancreatic Insulinomas: Clinical, Morphological, and Genetic Characteristics of 12 Children

Melikyan Maria , Gurevich Larisa , Makarov Sergey , Stepanov Alexey , Friis-Hansen L , Peterkova Valentina , Christesen Henrik

Background: Insulinomas are extremely rare tumors in children and an uncommon first manifestation of the MEN1 syndrome. An early clinical and genetic diagnosis is very important for the appropriate medical assessment and family counseling. In children, insulinomas are usually benign tumors with only a few reports of malignant cases.Objective and hypotheses: To investigate clinical features, genetic and morphological characteristics of 12 children with pr...
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hrp0082p1-d2-32 | Autoimmune Endocrine Disease | ESPE2014

Papillary Thyroid Cancer After Hematopoietic Stem Cell Transplantation in Young Age

Snajderova Marta , Keslova Petra , Sykorova Pavla , Sedlacek Petr , Formankova Renata , Stary Jan

Background: Increasing number of survivors following hematopoietic stem cell transplantation (HSCT) leads to necessity to focus also on careful monitoring for late effects. High dose chemotherapy and total body irradiation (TBI) is used for conditioning regimen in many patients. Thyreopathies belong to the most frequent among late endocrinopathies.Objective: Aim of the study was to evaluate incidence of secondary thyroid malignancies after HSCT in young ...
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hrp0082p1-d2-33 | Autoimmune Endocrine Disease | ESPE2014

Immunological Studies in Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neural Tumor (ROHHADNET) Syndrome

Napoli Flavia , Calcagno Annalisa , Lorgi Natascia di , Allegri Anna Elsa Maria , Vannati Marianna , de Miglio Laura , Biancheri Roberta , Ceccherini Isabella , Hacohen Yael , Jacobson Leslie , Vincent Angela , Maghnie Mohamad

Background: ROHHADNET syndrome affects children with normal development until 2–4 years of age.Objective and hypotheses: Aim of this study was to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not been identified. A paraneoplastic/autoimmune etiology has been suggested mainly because of the association with neural crest tumors....
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