Searchable abstracts of presentations at key conferences in endocrinology

ea0090p24 | Adrenal and Cardiovascular Endocrinology | ECE2023

Whole Exome Sequencing Identified Mutations in Genes Involved in the Synthesis of Atrial Natriuretic Peptide from the Heart in Hypertensive Cardiovascular Disease Patients

Rauf Sania , Arshad Abida , Foo Roger , Akram Maleeha , Naz Shumaila , Shakeel Raza Rizvi Syed

The heart not only has a mechanical function of pumping blood through vessels but also acts as an endocrine gland. In its endocrine function, the heart releases atrial natriuretic peptide (ANP), a hormone of a large family of natriuretic peptides. ANP is secreted from cardiac atria as an inactive preprohormone. In post-translational modification, 25-amino acid signal sequence is cleaved from preprohormone to produce proANP of 126-amino acid, which is the major form of ANP stor...

ea0090p569 | Adrenal and Cardiovascular Endocrinology | ECE2023

An Analysis of Genes Involved in Vasoconstriction Causing Hypertension and Related Cardiovascular Diseases Using Whole Exome Sequencing

Rauf Sania , Arshad Abida , Foo Roger , Akram Maleeha , Naz Shumaila , Shakeel Raza Rizvi Syed

Hypertension is associated with vascular changes characterized by endothelial dysfunction, increased vascular contraction, and arterial remodelling. Vascular smooth muscle (VSM) cells, which constitute bulk of vascular wall, are critically involved in these processes through their highly plastic and dynamic features and ability to undergo phenotypic differentiation. Stimulation of VSM cells by pro-hypertensive neurohumoral stimuli such as acetylcholine and norepinephrine, and ...

ea0081p286 | Adrenal and Cardiovascular Endocrinology | ECE2022

A novel mutation in creb3l1 gene involved in vasopressin synthesis pathway in patients with hypertensive cardiovascular diseases

Rauf Sania , Arshad Abida , Foo Roger , Akram Maleeha , Naz Shumaila , Naseem Afzaal Ahmed , Qayyum Mazhar , Raza Rizvi Syed Shakeel

Arginine vasopressin (AVP) is a neurohormone, which regulates blood and extracellular fluid volume and hence blood pressure (BP). AVP has its chief action in kidneys where it reduces flow of urine, increases permeability of convoluted tubules of kidneys to water and its reabsorption. It binds to receptors on sweat glands and decreases water loss by perspiration from the skin. Also, AVP binds to peripheral arteriolar receptors, causing vasoconstriction and increase in BP. The s...

ea0081p287 | Adrenal and Cardiovascular Endocrinology | ECE2022

Whole exome sequencing of genes involved in dysfunctional renin-angiotensin-aldosterone system in hypertensive cardiovascular patients

Rauf Sania , Arshad Abida , Foo Roger , Akram Maleeha , Naz Shumaila , Ahmed Naseem Afzaal , Qayyum Mazhar , Raza Rizvi Syed Shakeel

The renin-angiotensin-aldosterone system (RAAS) is an endocrine system within the body that is essential for regulation of blood pressure (BP) and fluid balance. The system is mainly comprised of three hormones renin, angiotensin II (Ang II) and aldosterone. The RAAS pathway is initiated in the kidney with the proteolytic conversion of liver derived angiotensinogen to angiotensin I (Ang I) by renin secreted by juxtaglomerular apparatus of the nephron. Ang I is cleaved by angio...

ea0073oc4.2 | Oral Communications 4: Reproductive and Developmental Endocrinology | ECE2021

A molecular analysis of genes involved in disruption of hypothalamo-pituitary-gonadal axis causing delay in onset of male puberty

Akram Maleeha , Handelsman David J. , Kennerson Marina , Rauf Sania , Ahmed Shahid , Ishtiaq Osama , Ismail Muhammad , Mansoor Qaiser , Naseem Afzaal Ahmed , Qayyum Mazhar , Raza Rizvi Marc Y.

Of 563 genes involved in multiple processes of development of hypothalamo-pituitary-gonadal (HPG) axis during embryogenesis, mutations in 62 genes cause delayed puberty. We selected 6 of 37 delayed puberty patients for whole exome sequencing (WES) based on advanced age (>18 years) and severity of disease symptoms. Genomic DNA extraction was done using Qiagen kit at Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. DNA samples were taken to ANZAC Researc...

ea0063p1160 | Thyroid 3 | ECE2019

Stress induced cortisol release depresses the secretion of triiodothyronine in patients with anterior wall myocardial infarction

Javid Muhammad , Kayani Amjad Rashid , Akram Maleeha , Kazmi Ali Raza , Jahan Sarwat , Afshan Kiran , Rauf Sania , Naseem Afzaal Ahmed , Tahir Fahim , Qayyum Mazhar , Rafi Muhammad , Rizvi Syed Shakeel Raza

Stress is any uncomfortable emotional experience accompanied by predictable psychological, physiological and behavioral changes. A sudden and severe stress generally produces an increase in the heart rate and blood pressure and induces a state of alertness in an individual. Evidence indicates that chronic stress depresses thyroid function, resulting in low levels of T3 and T4, which affects cardiomyocytesÂ’ function and leads to development of cardiov...