Endocrine System Commons^™

Ethnic Disparity In 21-Hydroxylase Gene Mutations Identified In Pakistani Congenital Adrenal Hyperplasia Patient, Aysha Habib Khan, Muniba Aban, Jamal Raza, Naeem Ul Haq, Abdul Jabbar, Tariq Moatter

Department of Pathology and Laboratory Medicine

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH.

Methods: A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay.

Results: Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females …

Editorial Focus: An Ace Inhibitor Improves Vascular Outcomes In A Pkd Model, Surya M. Nauli

Pharmacy Faculty Articles and Research

Cardiovascular complications are the most common cause of death in patients with polycystic kidney disease (PKD). Within the context of clinical practice, two possible theories have been reviewed that could help describe the pathogenesis of vascular complications in PKD (7).

Calcium-Mediated Mechanisms Of Cystic Expansion, Shakila Abdul-Majeed, Surya M. Nauli

Pharmacy Faculty Articles and Research

In this review, we will discuss several well-accepted signaling pathways toward calcium-mediated mechanisms of cystic expansion. The second messenger calcium ion has contributed to a vast diversity of signal transduction pathways. We will dissect calcium signaling as a possible mechanism that contributes to renal cyst formation. Because cytosolic calcium also regulates an array of signaling pathways, we will first discuss cilia-induced calcium fluxes, followed by Wnt signaling that has attributed to much-discussed planar cell polarity. We will then look at the relationship between cytosolic calcium and cAMP as one of the most important aspects of cyst progression. The signaling of …

Frequency Of Silent Myocardial Ischaemia In Diabetics: A Single Centre Study, Adil Sheikh, Syed Shah Faisal, Abdul Jabbar

Section of Diabetes, Endocrinology and Metabolism

OBJECTIVE: To find the frequency of silent myocardial ischaemia in diabetics as compared to non-diabetics.

METHODS: This was a cross sectional study conducted between November 2008 and March 2010. Two hundred subjects were recruited by convenience sampling after informed consent. All were subjected to an exercise stress test. Electrocardiographic changes were noted for silent Ischaemia Descriptive Statistics were applied for significance.

RESULT: Of the 200 subjects included in the study, 31 had diabetes and 1 69 were non-diabetics. The mean age was 46 +/- 10 years. Twenty eight subjects tested positive for silent ischaemia, of whom six were diabetics (19%) …

Pressure Pain Threshold Testing Demonstrates Predictive Ability In People With Acute Whiplash., David Walton

David Walton

No abstract provided.

Multiple Protein Kinases Determine The Phosphorylated State Of The Small Heat Shock Protein, Hsp27, In Sh-Sy5y Neuroblastoma Cells, Linda A. Dokas, Amy M. Malone, Frederick E. Williams, Surya M. Nauli, William S. Messer Jr.

Pharmacy Faculty Articles and Research

In SH-SY5Y human neuroblastoma cells, the cholinergic agonist, carbachol, stimulates phosphorylation of the small heat shock protein 27 (HSP27). Carbachol increases phosphorylation of both Ser-82 and Ser-78 while the phorbol ester, phorbol-12, 13-dibutyrate (PDB) affects only Ser-82. Muscarinic receptor activation by carbachol was confirmed by sensitivity of Ser-82 phosphorylation to hyoscyamine with no effect of nicotine or bradykinin. This response to carbachol is partially reduced by inhibition of protein kinase C (PKC) with GF 109203X and p38 mitogen-activated protein kinase (MAPK) with SB 203580. In contrast, phosphorylation produced by PDB is completely reversed by GF 109203X or CID 755673, an …

Spurious Hyperkalaemia: An Insight, Khawaja Salman Zaki, Uzma Majid, Najmul Islam

Section of Diabetes, Endocrinology and Metabolism

Hyperkalaemia is a common electrolyte disorder with potentially lethal consequences and can lead to life-threatening cardiac dysrhythmias. Spurious hyperkalaemia, also known as pseudohyperkalaemia or factitious hyperkalaemiais, is also quite common in clinical practice and it's a source of avoidable emergency department visits or hospital admissions. We report a case in which alarming hyperkalaemia was found in a patient having Chronic Monomyelocytic Leukaemia on two different occasions, later diagnosed to be spurious.

A Large Goiter In A Euthyroid Child Due To A Thyroglobulin Gene Defect, Arnold H. Slyper Md, Pia Hermanns Ms, Phd, Jessica Okamoto Rn, Leeyat Slyper

Department of Pediatrics

No abstract provided.

Polycystic Diseases In Visceral Organs, Shakila Abdul-Majeed, Surya M. Nauli

Pharmacy Faculty Articles and Research

Primary cilia are nonmotile, microtubule-based, antenna-like organelles projecting from the apical surface of most mammalian cells. Elegant studies have established the importance of ciliary structure and function in signal transduction and the sensory roles of cilia in maintaining healthy cellular state. In particular, dysfunctional cilia have been implicated in a large number of diseases mainly characterized by the presence of fluid-filled cysts in various organs. Aside from polycystic kidney disease (PKD), however, the roles of cilia in polycystic liver disease (PLD), polycystic pancreas disease (PPD), and polycystic ovarian syndrome (PCOS) are still very vague. In addition, although gender and sex …

The Mechanosensory Role Of Primary Cilia In Vascular Hypertension, Surya M. Nauli, Xingjian Jin, Beerend P. Hierck

Pharmacy Faculty Articles and Research

Local regulation of vascular tone plays an important role in cardiovascular control of blood pressure. Aside from chemical or hormonal regulations, this local homeostasis is highly regulated by fluid-shear stress. It was previously unclear how vascular endothelial cells were able to sense fluid-shear stress. The cellular functions of mechanosensory cilia within vascular system have emerged recently. In particular, hypertension is insidious and remains a continuous problem that evolves during the course of polycystic kidney disease (PKD). The basic and clinical perspectives on primary cilia are discussed with regard to the pathogenesis of hypertension in PKD.