ESPE Abstracts

ESPE Abstracts

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Page 17 of about 199 results

hrp0086p2-p173 | Bone & 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...
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hrp0086p2-p714 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Autoimmune Hypoparathyroidism and Celiac Disease: A Rare Paediatric Association Outside an Autoimmune Polyglandular Syndrome

Gallo Francesco , Simeone Giovanni , Conte Pietro , La Torre Francesco , Moramarco Fulvio

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...
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hrp0082s1.3 | Disorders of Gsalpha Signaling | ESPE2014

New Therapies in Metabolic Bone Disease: PTH

Linglart Agnes

Hypoparathyroidism is a rare disease manifesting as hypocalcemic seizures, developmental delay, sluggishness, paresthesias and/or dyskinesia. Symptoms reveal hypocalcaemia associate with increased serum phosphorus and undetectable, low or unadapted PTH levels. Known causes of hypoparathyroidism are cervical surgeries causing irreversible damage to the parathyroid tissue, toxic attack of the parathyroid cells by antibodies, and genetic defects affecting parathyroid development,...
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hrp0082p3-d2-685 | Bone (1) | ESPE2014

Autosomal-Dominant Hypocalcaemia, New Clinical Features

Gea Isabel Leiva , Fuentes-Bolanos Noemi Auxiliadora , Munoz-Garach Araceli , Gonzalez Luis Castano , Ollero Maria Jose Martinez-Aedo , Lopez-Siguero Juan Pedro

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...
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hrp0084wg2.5 | Diabetes Technology and Therapeutics Thursday, 1 October | ESPE2015

Blood Glucose Monitoring: Which is Better: Continuous Real-Time or Episodic Real-Time on Demand? CON

Kordonouri Olga

Background: Self-monitoring of blood glucose is an essential tool in the optimal management of childhood and adolescent diabetes. In the last 15 years, an extraordinary development of reliable devices for real-time continuous glucose monitoring (CGM) has taken place. Meanwhile, several trials in adults and children showed that CGM can be associated with improved glycaemic control, significant reduction of hypoglycaemia and better quality of life, particularly in those patients...
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hrp0094p2-79 | Bone, growth plate and mineral metabolism | ESPE2021

Clinical, molecular characterization and long-term follow-up of a patient with neonatal severe hyperparathyroidism

Padeira Goncalo , Carvalho Ana Isabel , Cavaco Branca M. , Virella Daniel , Lopes Lurdes Afonso ,

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...
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hrp0097s7.1 | Theories of obesity development and their implications on dietary interventions | ESPE2023

Competing Paradigms of Obesity Pathogenesis

Ludwig David

Conventional treatment for obesity, founded on the First Law of Thermodynamics, assumes that all calories are alike, and that to lose weight one must ultimately “eat less and move more.” However, this prescription rarely succeeds over the long term. Calorie restriction elicits predictable biological responses – including increased hunger and reduced energy expenditure – that oppose ongoing weight loss. Indeed, the prevailing Energy Balance Model offers ...
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hrp0097p1-442 | Diabetes and Insulin | ESPE2023

Identification of GCK-MODY in case of neonatal hyperglycemia

Hakobyan Nina , Avetisyan Susanna , Markosyan Renata

Neonatal Diabetes mellitus (NDM) is a rare genetic disease. In this report, we presented a case of NDM due to mutation in GCK gene. A male baby born to a non-consanguineous parent at 42 weeks of gestation with a birth weight of 3.2 kg. The mother was diagnosed with gestational diabetes; no special treatment was given. The first episode of hyperglycemia was registered at the age of 13 days at hospitalization due to bronchitis /blood glucose -6.2⁓7.9 mmol/l. Due to mild h...
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hrp0098p2-34 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Persistent Hypocalcemia In a Pakistani Infant: A Rare Activating CaSR Mutation

Saddam Hussain Syed , Aftab Sommayya , Arshad Kahsan , Saeed Anjum , Arshad Cheema Huma

Background: Autosomal-dominant hypocalcemia hypercalciuria (ADHH) is rare a genetic disorder characterized by hypocalcemia, hypercalciuria, low or inappropriately normal levels of parathyroid hormone caused by heterozygous activating mutation of calcium sensing receptor. It may be familial or sporadic with variable genotype and phenotype correlation.Objective: We are reporting a de-novo heterozygous variant of the Ca...
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hrp0095t12 | Section | ESPE2022

Assessment of non-alcoholic fatty liver disease with non-invasive indices in adolescents with polycystic ovary syndrome

Context: Polycystic ovary syndrome (PCOS) is a complex disorder affecting women from adolescence until menopause. PCOS in adolescent years shares common features with clinical presentation in adulthood, including the adverse metabolic profile. Non-alcoholic fatty liver disease (NAFLD) is a spectrum of hepatic changes, from liver steatosis to severe inflammation and fibrinogenesis.Objective: To assess NAFLD in an adolesce...
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