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Endocrine Abstracts

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ea0058p033 | Miscellaneous Endocrinology | BSPED2018

Novel HNF1Avariant associated with congenital hyperinsulinism in infancy and maturity onset diabetes of young (MODY 3) in later life

Parikh Ruchi , Didi Mohammed , Canham Natalie , Senniappan Senthil

Introduction: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in neonates, infants and children with an incidence of 1/25000-1/50000 live births. HNF4A and HNF1A mutations lead to maturity onset diabetes of the young (MODY 1 and 3 respectively) with a potential for causing CHI in the newborn period. Whilst HNF4A mutations causing CHI is well known, reports on CHI due to HNF1A mutations are very limited.</...
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ea0050p243 | Neoplasia, Cancer and Late Effects | SFEBES2017

Analysis of the diagnosis, treatment and genetics of 175 cases of phaeochromocytoma and paraganglioma in two ENETS Centres of Excellence

Stoenchev Kostadin , McDonald Basil , Dean Sophie , Canham Natalie , Palazzo Fausto , Banga Neal , Clarke Peter , Harcourt Jonathan , Baker Darryl , Todd Jeannie , Martin Niamh , Wernig Florian , Chahal Harvinder , Sam Amir , Hatfield Emma , Dhillo Waljit , Meeran Karim , Grossman Ashley , Toumpanakis Christos , Caplin Martyn , Tan Tricia , Khoo Bernard

Background: Phaeochromocytomas (PCC) and paragangliomas (PGL) are tumours derived from neural crest cells within the adrenal medulla or extra-adrenal ganglia, respectively. Over 20 known genes are implicated in at least 30% of cases. Experience with these tumours in individual centres is limited due to their rarity.Objective: To describe the demographics, genetics, treatment and progression-free survival (PFS) in ...
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ea0050p243 | Neoplasia, Cancer and Late Effects | SFEBES2017

Analysis of the diagnosis, treatment and genetics of 175 cases of phaeochromocytoma and paraganglioma in two ENETS Centres of Excellence

Stoenchev Kostadin , McDonald Basil , Dean Sophie , Canham Natalie , Palazzo Fausto , Banga Neal , Clarke Peter , Harcourt Jonathan , Baker Darryl , Todd Jeannie , Martin Niamh , Wernig Florian , Chahal Harvinder , Sam Amir , Hatfield Emma , Dhillo Waljit , Meeran Karim , Grossman Ashley , Toumpanakis Christos , Caplin Martyn , Tan Tricia , Khoo Bernard

Background: Phaeochromocytomas (PCC) and paragangliomas (PGL) are tumours derived from neural crest cells within the adrenal medulla or extra-adrenal ganglia, respectively. Over 20 known genes are implicated in at least 30% of cases. Experience with these tumours in individual centres is limited due to their rarity.Objective: To describe the demographics, genetics, treatment and progression-free survival (PFS) in ...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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