Searchable abstracts of presentations at key conferences in endocrinology

ea0021p19 | Bone | SFEBES2009

Hereditary renal calcification locus, Rcalc1, is associated with altered expression of cell survival genes

Loh Nellie Y , Stechman Michael J , Schulz Herbert , Jeyabalan Jeshmi , Reed Anita A C , Ahmad Bushra , Stewart Michelle , Brown Steve D M , Huebner Norbert , V. Thakker Rajesh

Renal stone disease is a common disorder for which the underlying causes remain largely unknown. We have investigated a hereditary renal calcification mouse model, Rcalc1, that is not associated with hypercalciuria for underlying mechanisms. Kidney RNA from 30 to 33 week-old Rcalc1 and control BALB/c and C3H female mice (n=4/group) was extracted and hybridised to Mouse Genome 430 2.0 arrays (Affymetrix). Following Robust Multichip Average normalization, pair-wise compar...

ea0019p7 | Bone | SFEBES2009

A mouse model, Hcalc1, for autosomal dominant hypercalciuria is due to a transient receptor potential cation channel, subfamily V, member 5 (Trpv5) mutation

Loh N , Stechman M , Ahmad B , Hannan F , Hough T , Chiev K-P , Stewart M , Bentley L , Cox R , Brown S , Thakker R

To identify genes causing hypercalciuria, we screened male offspring of C57BL/6J male mice mutagenised by N-ethyl-N-nitrosourea (ENU) for this abnormality. Mice were kept in accordance with UK Home Office welfare guidelines and project licence restrictions. Metabolic cage studies were performed to collect 24-hour urine samples, and this revealed one mouse with hypercalciuria (Hcalc1). Inheritance testing demonstrated that Hcalc1 was inherited as an autosomal domi...

ea0013p140 | Diabetes, metabolism and cardiovascular | SFEBES2007

cDNA expression profiling studies reveal 7 differentially expressed genes on mouse chromosome 7 that may influence renal calcification in C3H/HeH inbred mice

Loh Nellie , Stechman Michael , Reed Anita , Ahmad Bushra , Stewart Michelle , Hacker Terry , Schulz Herbert , Born Gabi , Dear Neil , Brown Steve , Hubner Norbert , Thakker Rajesh

Vascular calcification, occurring in organs such as heart and kidneys, is associated with increased risk of cardiovascular mortality. The underlying molecular mechanisms remain unknown. To elucidate these, we investigated C3H mice, an inbred strain susceptible to vascular, myocardial and renal calcification. Myocardial calcification in C3H mice involves 4 genetic loci, Dyscalc1-4, that map to chromosomes 7, 4, 12 and 14, respectively. Dyscalc1 contributes to myoc...

ea0009p66 | Growth and development | BES2005

The circadian rhythm of osteoprotegerin and its association with parathyroid hormone secretion

Joseph F , Chan B , Corlett P , Durham B , Ahmad A , White H , Wherley N , Vinjamuri S , Gallagher J , Fraser W , Vora J

BACKGROUD: Parathyroid hormone (PTH) is normally secreted in a circadian rhythm and modulates bone turnover through the differential stimulation of receptor activator for nuclear factor kappa-B ligand (RANKL) and suppression of osteoprotegerin (OPG), both of which are fundamental factors in regulating bone turnover. We have studied the relationship between PTH and OPG over a 24-hour period.METHODS: Hourly peripheral venous blood samples were obtained fro...

ea0099ep299 | Adrenal and Cardiovascular Endocrinology | ECE2024

Prevalence and significance of hypokalemia in primary aldosteronism: a retrospective study

Soomauroo Siddiqa , Hadjkacem Faten , Missaoui Abdelmuhaymen , Ridwaan Auckburally Ahmad , Maalej Souhir , Feki Wiem , Mnif Zeinab , Mnif Mouna , Abid Mohamed , Rekik Nabila

Introduction: Primary hyperaldosteronism (PA) is the autonomous production of aldosterone by a disease primarily affecting the glomerular zone of the adrenal gland. It is one of the most frequent causes of secondary hypertension. The diagnosis should be suspected in the presence of the classic clinico-biological triad in patients presenting with hypertension, low plasma renin activity (PRA), with or without hypokalemia.Patients and Methods: Retrospective...

ea0099ep300 | Adrenal and Cardiovascular Endocrinology | ECE2024

Primary aldosteronism: insights from a single center cohort

Soomauroo Siddiqa , Hadjkacem Faten , Missaoui Abdelmuhaymen , Ridwaan Auckburally Ahmad , Maalej Souhir , Feki Wiem , Mnif Zeinab , Mnif Mouna , Abid Mohamed , Rekik Nabila

Introduction: Primary aldosteronism (PA) is commonly identified as the main cause of secondary hypertension. It is becoming increasingly wide-spread, affecting between 1 and 30% of people suffering from hypertension. We aim to describe the epidemiological, clinical and paraclinical characteristics of PA and to analyse its therapeutic and evolutionary aspects.Patients and methods: Retrospective and descriptive study concerning 40 patients with PA, collect...

ea0099ep920 | Adrenal and Cardiovascular Endocrinology | ECE2024

Adrenal lesions do matter in the course of primary aldosteronism: a comparative analysis of Conn’s adenoma vs bilateral adrenal hyperplasia

Soomauroo Siddiqa , Hadjkacem Faten , Ridwaan Auckburally Ahmad , Missaoui Abdelmuhaymen , Maalej Souhir , Feki Wiem , Mnif Zeinab , Mnif Mouna , Abid Mohamed , Rekik Nabila

Introduction: Primary aldosteronism (PA) is commonly identified as the main cause of secondary hypertension. It is becoming increasingly wide-spread, affecting between 1 and 30% of people suffering from hypertension. We aim to determine the different characteristics between aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (BAH).Patients and methods: Retrospective descriptive and analytical study concerning 40 patients with PA, collec...

ea0099ep1100 | Adrenal and Cardiovascular Endocrinology | ECE2024

Cardiovascular and cerebrovascular burden associated with primary aldosteronism: a monocentric study

Soomauroo Siddiqa , Hadjkacem Faten , Missaoui Abdelmuhaymen , Ridwaan Auckburally Ahmad , Maalej Souhir , Feki Wiem , Mnif Zeinab , Mnif Mouna , Abid Mohamed , Rekik Nabila

Introduction: Primary aldosteronism (PA) is commonly identified as the main cause of secondary hypertension. It is becoming increasingly wide-spread, affecting between 1 and 30% of people suffering from hypertension. A prolonged exposure to high aldosterone concentrations has a deleterious effect on cardiovascular tissues and is associated with target organ damage, independently of blood pressure, so a higher risk of cardiovascular events has been reported in patients with pri...

ea0099ep1102 | Adrenal and Cardiovascular Endocrinology | ECE2024

Clinical features and complication profile of arterial hypertension in patients with primary aldosteronism

Soomauroo Siddiqa , Hadjkacem Faten , Missaoui Abdelmuhaymen , Ridwaan Auckburally Ahmad , Maalej Souhir , Feki Wiem , Mnif Zeinab , Mnif Mouna , Abid Mohamed , Rekik Nabila

Introduction: Primary aldosteronism (PA) is frequently recognized as the main cause of secondary hypertension. Its prevalence is on the rise, impacting a range of 1 to 30% among individuals with hypertension.Patients and methods: Retrospective and descriptive study concerning 40 patients with PA, collected in the endocrinology department of the Hedi Chaker University Hospital of Sfax, over the period of 10 years from January 2010 to December 2022.<p ...

ea0099ep367 | Thyroid | ECE2024

A case of myasthenia gravis associated with hashimoto’s thyroiditis

Ben Salah Raida , Soomauroo Siddiqa , Hadjkacem Faten , Missaoui Abdelmuhaymen , Ridwaan Auckburally Ahmad , Feki Wiem , Mnif Mouna , Marzouk Sameh , Abid Mohamed , Rekik Nabila , Bahloul Zouheir

Introduction: Myasthenia gravis (MG) is a chronic neuromuscular condition characterized by weakness in voluntary muscles. It is an autoimmune disorder. The emergence of the condition can be abrupt. As with any autoimmune disease (AID), it may be associated with other AIDs. We report a case of MG associated with Hashimoto’s thyroiditis (HT).Observation: The diagnosis of MG was established in a 58-year-old patient, based on the progressive onset of fa...