Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep663 | Environmental Endocrinology | ECE2023

Eating as well as sleeping later or modification of lifestyle can promote a negative profile of endocrine hormones & inflammatory markers

Usman Kauser , Naz Qulsoom

Background: Our bodies function optimally when we align our eating & sleeping patterns with our circadian rhythms, the innate 24-hour cycles that tell our bodies when to wake up, when to eat and when to fall asleep. Chronically disrupting this rhythm by eating late night meals & sleep could be a recipe for Diabetes, CVD, and metabolic trouble.Aim and objective: The aim of this study is to investigate whether there was a relationship between morni...

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 ...

ea0090p104 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Effects of Diospyros Kaki Derived Exosomes on Beta Cell Homeostasis

Kabataş Bilge , Yildirim Merve , Eren Olcay , Unsal Naz , Eren Simge

Introduction: Exosomes are nanoparticles containing bioactive molecules reflecting individual physiological status, regulating metabolism, and repairing damaged tissues. Exosomes are extracellular vesicles with nano-sized features (30-150 nm) involved in cell-to-cell communication and maintaining homeostasis. The function of exosomes is different according to their cargo and they can contain lipids, proteins and nucleic acids. Exosomes originating from mammalian cells as well ...

ea0090ep662 | Environmental Endocrinology | ECE2023

Early Dinner instead of Late Night reduce the risk of endocrine as well as genetic disruption

Naz Qulsoom , Usman Siddiqui Kausar , Verma Narsingh , Anjum B , Ali Mahdi Abbas

Background: Our bodies function optimally when we align our eating & sleeping patterns with our circadian rhythms, the innate 24-hour cycles that tell our bodies when to wake up, when to eat and when to fall asleep. Chronically disrupting this rhythm by eating late night meals & sleep could be a recipe for Hypertension, CVD, and metabolic trouble.Aim and objective: The aim of this study is to investigate whether there was a relationship between m...

ea0095p75 | Pituitary and Growth 1 | BSPED2023

Growth hormone deficiency associated with BRAF-related cardiofaciocutaneous syndrome

Mann Amy , Chapman Simon , Raoof Naz , Robert Leema , Kapoor Ritika R

Background: Cardiofaciocutaneous (CFC) syndrome is a rare disorder characterised by multiple abnormalities including congenital heart disease, craniofacial dysmorphology, ectodermal abnormalities, developmental delay, and epilepsy. Case reports of growth hormone (GH) deficiency, hyperprolactinemia, and precious puberty have been reported in association with CFC syndrome. A recent case series and gene knockout study highlighted the mechanistic role of CFC syndr...

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...

ea0021p232 | Growth and development | SFEBES2009

Loss of the Golgi localised E3 ubiquitin ligase containing Cullin 7 in the growth disorder 3-M syndrome leads to reduced cell proliferation and reduced IGF1 mediated activation of Akt

Murray Philip , Hanson Daniel , Sud Amit , Omokanye Ajibola , Khan Waqas , Khan Naz , Chandler Kate , Aglan Mona , Black Graeme , Clayton Peter

Background: 3-M syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth restriction, normal intelligence and dysmorphic facial features. Mutations in the genes encoding Cullin 7 (CUL7) and Obscurin like-1 (OBSL1) have been shown to cause 3-M syndrome.Aims: To characterize CUL7 production and localization in a primary fibroblast cell line from a patient with 3-M syndrome due to a CUL7 mutation and to assess cell prol...