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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 2016 Aga Khan University

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

Aysha Habib

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 ...


Gating Of The Polycystin Ion Channel Signaling Complex In Neurons And Kidney Cells, Patrick Delmas, Surya Nauli, Xiaogang Li, Bertrand Coste, Nancy Osorio, Marcel Crest, David Brown, Jing Zhou 2015 IFR Jean Roche

Gating Of The Polycystin Ion Channel Signaling Complex In Neurons And Kidney Cells, Patrick Delmas, Surya Nauli, Xiaogang Li, Bertrand Coste, Nancy Osorio, Marcel Crest, David Brown, Jing Zhou

David C. Brown

Mutations in either polycystin-2 (PC2) or polycystin-1 (PC1) proteins cause severe, potentially lethal, kidney disorders and multiple extrarenal (including brain) disease phenotypes. PC2, a member of the transient receptor potential channel superfamily, and PC1, an orphan membrane receptor of largely unknown function, are thought to be part of a common signaling pathway. Here, we show that in rat sympathetic neurons and kidney cells, coassembly of full-length PC1 with PC2 forms a plasmalemmal ion channel signaling complex in which PC1 stimulation simultaneously activates PC2 ion channels and G(i/o)-proteins. PC2 activation occurs through a structural rearrangement of PC1, independent ...


Gating Of The Polycystin Ion Channel Signaling Complex In Neurons And Kidney Cells, Patrick Delmas, Surya Nauli, Xiaogang Li, Bertrand Coste, Nancy Osorio, Marcel Crest, David Brown, Jing Zhou 2015 IFR Jean Roche

Gating Of The Polycystin Ion Channel Signaling Complex In Neurons And Kidney Cells, Patrick Delmas, Surya Nauli, Xiaogang Li, Bertrand Coste, Nancy Osorio, Marcel Crest, David Brown, Jing Zhou

David W Brown

Mutations in either polycystin-2 (PC2) or polycystin-1 (PC1) proteins cause severe, potentially lethal, kidney disorders and multiple extrarenal (including brain) disease phenotypes. PC2, a member of the transient receptor potential channel superfamily, and PC1, an orphan membrane receptor of largely unknown function, are thought to be part of a common signaling pathway. Here, we show that in rat sympathetic neurons and kidney cells, coassembly of full-length PC1 with PC2 forms a plasmalemmal ion channel signaling complex in which PC1 stimulation simultaneously activates PC2 ion channels and G(i/o)-proteins. PC2 activation occurs through a structural rearrangement of PC1, independent ...


Posterior Approach To Kidney Dissection: An Old Surgical Approach For Integrated Medical Curricula, Frank J. Daly, David L. Bolender, Deepali Jain, Sheryl Uyeda, Todd M. Hoagland 2015 University of New England

Posterior Approach To Kidney Dissection: An Old Surgical Approach For Integrated Medical Curricula, Frank J. Daly, David L. Bolender, Deepali Jain, Sheryl Uyeda, Todd M. Hoagland

Biomedical Sciences Faculty Publications

Integrated medical curricular changes are altering the historical regional anatomy approach to abdominal dissection. The renal system is linked physiologically and biochemically to the cardiovascular and respiratory systems, yet anatomist often approach the urinary system as part of the abdomen and pelvic regions. As part of an integrated curriculum, the renal system must be covered relatively quickly after the thorax in the cadaver lab, often without the opportunity to fully appreciate the rest of the abdominal contents. This paper provides dissection instructions that follow the one of the historical surgical approaches for nephrectomy, including preservation of the posterior abdominal wall ...


Dopaminergic Signaling Within The Primary Cilia In The Renovascular System, Kimberly F. Atkinson, Samred H. Kathem, Xingjian Jin, Brian S. Muntean, Wissam A. AbouAlaiwi, Andromeda M. Nauli, Surya M. Nauli 2015 Chapman University

Dopaminergic Signaling Within The Primary Cilia In The Renovascular System, Kimberly F. Atkinson, Samred H. Kathem, Xingjian Jin, Brian S. Muntean, Wissam A. Aboualaiwi, Andromeda M. Nauli, Surya M. Nauli

Pharmacy Faculty Articles and Research

Activation of dopamine receptor type-5 (DR5) has been known to reduce systemic blood pressure, most likely by increasing renal vasodilation and enhancing natriuresis in the kidney. However, the mechanism of DR5 in natriuresis and vasodilation was not clearly known. We have previously shown that DR5 is localized to primary cilia of proximal renal epithelial and vascular endothelial cells. We here show that selective activation of DR5 specifically induces calcium influx only in the primary cilia, whereas non-selective activation of dopamine receptor induces calcium fluxes in both cilioplasm and cytoplasm. Cilia-independent signaling induced by thrombin only shows calcium signaling within cytoplasm ...


Ideology Masquerading As Science: The Case Of Endocrine Disrupter Screening Programmes, Troy Seidle 2014 People for the Ethical Treatment of Animals

Ideology Masquerading As Science: The Case Of Endocrine Disrupter Screening Programmes, Troy Seidle

Troy Seidle, Ph.D.

The global move to develop novel testing methods and strategies to identify suspected endocrine disrupting chemicals offers a unique opportunity to move away from traditional animal testing paradigms in this new area of regulatory concern. Regrettably, the programmes under development, both in the USA and internationally through the OECD, have thus far failed to consider in vitro and other nonanimal test methods as more than “pre-screening” or “priority-setting” tools in a larger, animal-based testing strategy. Validation efforts to date have focused almost exclusively on the modification of existing animal tests to detect “endocrine effects”, with no demonstrable effort to promote ...


Infiltrating Ductal Carcinoma Breast With Central Necrosis Closely Mimicking Ductal Carcinoma In Situ (Comedo Type): A Case Series, Shahid Pervez, Hassan Khan 2014 Aga Khan University

Infiltrating Ductal Carcinoma Breast With Central Necrosis Closely Mimicking Ductal Carcinoma In Situ (Comedo Type): A Case Series, Shahid Pervez, Hassan Khan

Shahid Pervez

Here we present a series of infiltrative ductal carcinoma breast cases (infiltrative ductal carcinoma with central necrosis) so closely mimicking 'DCIS with central comedo necrosis' that on initial morphological analysis these foci of tumors were labeled as DCIS (high grade, comedo). However on further histological work up and by using immunohistochemistry (IHC) for myoepithelial markers it was later confirmed that these were foci of infiltrative ductal carcinoma breast with central necrosis. This case series gives the realization that a breast carcinoma may be partly or entirely DCIS like yet invasive. In such a dilemma IHC especially for assessment of myoepithelial ...


Il-1 Signaling In Obesity-Induced Hepatic Lipogenesis And Steatosis, Kimberly A. Negrin, Rachel J. Roth Flach, Marina T. DiStefano, Anouch Matevossian, Randall H. Friedline, Dae Young Jung, Jason K. Kim, Michael P. Czech 2014 University of Massachusetts Medical School

Il-1 Signaling In Obesity-Induced Hepatic Lipogenesis And Steatosis, Kimberly A. Negrin, Rachel J. Roth Flach, Marina T. Distefano, Anouch Matevossian, Randall H. Friedline, Dae Young Jung, Jason K. Kim, Michael P. Czech

Open Access Articles

Non-alcoholic fatty liver disease is prevalent in human obesity and type 2 diabetes, and is characterized by increases in both hepatic triglyceride accumulation (denoted as steatosis) and expression of pro-inflammatory cytokines such as IL-1beta. We report here that the development of hepatic steatosis requires IL-1 signaling, which upregulates Fatty acid synthase to promote hepatic lipogenesis. Using clodronate liposomes to selectively deplete liver Kupffer cells in ob/ob mice, we observed remarkable amelioration of obesity-induced hepatic steatosis and reductions in liver weight, triglyceride content and lipogenic enzyme expressions. Similar results were obtained with diet-induced obese mice, although visceral adipose tissue macrophage ...


Pathscan Enabler At Md Anderson Cancer Center, George McNamara 2014 M.D. Anderson Cancer Center

Pathscan Enabler At Md Anderson Cancer Center, George Mcnamara

George McNamara

McNamara 20140703 - Additional Pathscan and Tiki_Goddess related resources

http://works.bepress.com/gmcnamara/52

http://home.earthlink.net/~tiki_goddess/

http://works.bepress.com/gmcnamara/1/

http://works.bepress.com/gmcnamara/11/

https://www.linkedin.com/in/georgemcnamara

Our Pathscan Enabler IV, delivered July 2014, uses the QuickScan software to scan a histology slide in "two clicks" (after loading the

slide):

1. Push the QuickScan button on the front of the Pathscan Enabler.

2. Click the Scan button in the QuickScan pop-up application (optional: change scan area in the Prescan image window).

The image gets saved as a TIFF file to ...


The Role Of Estrogen And Estrogen Analogues In Friedreich’S Ataxia Cytoprotection, Timothy E. Richardson 2014 University of North Texas Health Science Center of Fort Worth

The Role Of Estrogen And Estrogen Analogues In Friedreich’S Ataxia Cytoprotection, Timothy E. Richardson

Theses and Dissertations

Friedreich’s ataxia (FRDA) is the most common form of inherited ataxia in the world, affecting roughly 1:50,000 people in the United States. It is inherited in an autosomal recessive manner due to a GAA trinucleotide repeat expansion in the first intron of the FXN gene on chromosome 9q13-21, causing gene silencing and a functional absence of the mitochondrial-localizing protein frataxin. The frataxin protein is responsible for the assembly of iron-sulfur centers in mitochondrial proteins, including the electron transport chain complex I-III, heme synthesis, as well as removing iron from around the mitochondria, preventing the formation of reactive ...


Robotic Surgery Outcomes After The Learning Curve: Does Robotic Surgery Improve The Quality Health Outcome “Readmission <30 Days” In Patients Having Hysterectomy For Benign Disease?, Elizabeth A. Berger MD, Jocelyn Shubella, Martin A. Martino MD 2014 Lehigh Valley Health Network

Robotic Surgery Outcomes After The Learning Curve: Does Robotic Surgery Improve The Quality Health Outcome “Readmission <30 Days” In Patients Having Hysterectomy For Benign Disease?, Elizabeth A. Berger Md, Jocelyn Shubella, Martin A. Martino Md

Martin A Martino MD

No abstract provided.


An Analysis Of Quality Outcomes In Patients Having A Hysterectomy: Robotics Vs The Vaginal Approach, Martin A. Martino MD, Jocelyn Shubella, Elizabeth A. Berger DO 2014 Lehigh Valley Health Network

An Analysis Of Quality Outcomes In Patients Having A Hysterectomy: Robotics Vs The Vaginal Approach, Martin A. Martino Md, Jocelyn Shubella, Elizabeth A. Berger Do

Martin A Martino MD

No abstract provided.


Roles Of Dopamine Receptor On Chemosensory And Mechanosensory Primary Cilia In Renal Epithelial Cells, Viralkumar S. Upadhyay, Brian S. Muntean, Samred H. Kathem, Jangyoun J. Hwang, Wissam A. AbouAlaiwi, Surya M. Nauli 2014 University of Toledo

Roles Of Dopamine Receptor On Chemosensory And Mechanosensory Primary Cilia In Renal Epithelial Cells, Viralkumar S. Upadhyay, Brian S. Muntean, Samred H. Kathem, Jangyoun J. Hwang, Wissam A. Aboualaiwi, Surya M. Nauli

Pharmacy Faculty Articles and Research

Dopamine plays a number of important physiological roles. However, activation of dopamine receptor type-5 (DR5) and its effect in renal epithelial cells have not been studied. Here, we show for the first time that DR5 is localized to primary cilia of LLCPK kidney cells. Renal epithelial cilia are mechanosensory organelles that sense and respond to tubular fluid-flow in the kidney. To determine the roles of DR5 and sensory cilia, we used dopamine to non-selectively and fenoldopam to selectively activate ciliary DR5. Compared to mock treatment, dopamine treated cells significantly increases the length of cilia. Fenoldopam further increases the length of ...


Effects Of Prenatal Testosterone On The Reproductive And Metabolic Neurons Of The Sheep Hypothalamus, Maria Cernea 2013 The University of Western Ontario

Effects Of Prenatal Testosterone On The Reproductive And Metabolic Neurons Of The Sheep Hypothalamus, Maria Cernea

Electronic Thesis and Dissertation Repository

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders affecting reproductively aged women. Women with PCOS and ewes prenatally exposed to testosterone (T) show similar reproductive and metabolic defects, including anovulatory dysfunctions stemming from abnormal gonadotropin releasing hormone (GnRH) secretion and insulin resistance. For this dissertation, I examined the effects of prenatal T treatment on androgen receptor (AR) and insulin receptor (IR) expression with the reproductive and metabolic neurons of the hypothalamus, the ARC KNDy (co-expressing kisspeptin, neurokinin B/dynorphin), AgRP (agouti-related peptide) and proopiomelanocortin (POMC) neurons, and the preoptic area (POA) kisspeptin neurons, and the GnRH ...


The Role Of Kisspeptin And Kndy Cells In The Reproductive Neuroendocrine System, Christina M. Merkley 2013 The University of Western Ontario

The Role Of Kisspeptin And Kndy Cells In The Reproductive Neuroendocrine System, Christina M. Merkley

Electronic Thesis and Dissertation Repository

The gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus represent the final common output in the central control of reproduction. GnRH secretion is modulated indirectly by steroid feedback action of gonadal steroids on afferent interneurons. In recent years, the neuropeptide, kisspeptin, has emerged as a key mediator of steroid feedback onto GnRH neurons and the reproductive system. Kisspeptin neurons located in the preoptic area (POA) mediate estradiol (E2) positive feedback leading to the preovulatory surge, and kisspeptin cells in the arcuate nucleus (ARC) have been shown to mediate the negative feedback actions of E2 on pulsatile GnRH secretion. ARC kisspeptin neurons ...


The Roles Of Primary Cilia In Polycystic Kidney Disease, Samred H. Kathem, Ashraf M. Mohieldin, Surya M. Nauli 2013 Chapman University

The Roles Of Primary Cilia In Polycystic Kidney Disease, Samred H. Kathem, Ashraf M. Mohieldin, Surya M. Nauli

Pharmacy Faculty Articles and Research

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited genetic disorder that results in progressive renal cyst formation with ultimate loss of renal function and other systemic disorders. These systemic disorders include abnormalities in cardiovascular, portal, pancreatic and gastrointestinal systems. ADPKD is considered to be among the ciliopathy diseases due to the association with abnormal primary cilia function. In order to understand the full course of primary cilia and its association with ADPKD, the structure, functions and role of primary cilia have been meticulously investigated. As a result, the focus on primary cilia has emerged to support the vital roles ...


Variceal Bleeding From Cirrhosis: A Clinical Review Of Causes And Pharmacotherapy Options, Hillary Aphaisuwan, Ibrahim Lala, Laura Tsu 2013 Midwestern University

Variceal Bleeding From Cirrhosis: A Clinical Review Of Causes And Pharmacotherapy Options, Hillary Aphaisuwan, Ibrahim Lala, Laura Tsu

Pharmacy Faculty Articles and Research

This home-study CPE activity has been developed to educate pharmacists on the prevention and treatment of hemorrhagic esophageal varices resulting from cirrhosis.


Gene Expression And Profiling Of Human Islet Cell Subtypes: A Master’S Thesis, David M. Blodgett 2012 University of Massachusetts Medical School

Gene Expression And Profiling Of Human Islet Cell Subtypes: A Master’S Thesis, David M. Blodgett

GSBS Dissertations and Theses

Background: The endocrine pancreas contains multiple cell types co-localized into clusters called the Islets of Langerhans. The predominant cell types include alpha and beta cells, which produce glucagon and insulin, respectively. The regulated release of these hormones maintains whole body glucose homeostasis, essential for normal metabolism and to prevent diabetes and complications from the disease. Given the heterogeneous nature of islet composition and absence of unique surface markers, many previous studies have focused on the whole islet. Sorting islet cells by intracellular hormone expression overcomes this limitation and provides pure populations of individual islet cell subsets, specifically alpha and beta ...


Mice Deficient In Gem Gtpase Show Abnormal Glucose Homeostasis Due To Defects In Beta-Cell Calcium Handling, Jenny E. Gunton, Mary Sisavanh, Rebecca A. Stokes, Jon Satin, Leslie S. Satin, Min Zhang, Sue M. Liu, Weikang Cai, Kim Cheng, Gregory J. Cooney, D. Ross Laybutt, Trina So, Juan-Carlos Molero, Shane T. Grey, Douglas A. Andres, Michael S. Rolph, Charles R. Mackay 2012 Garvan Institute of Medical Research, Australia

Mice Deficient In Gem Gtpase Show Abnormal Glucose Homeostasis Due To Defects In Beta-Cell Calcium Handling, Jenny E. Gunton, Mary Sisavanh, Rebecca A. Stokes, Jon Satin, Leslie S. Satin, Min Zhang, Sue M. Liu, Weikang Cai, Kim Cheng, Gregory J. Cooney, D. Ross Laybutt, Trina So, Juan-Carlos Molero, Shane T. Grey, Douglas A. Andres, Michael S. Rolph, Charles R. Mackay

Physiology Faculty Publications

AIMS AND HYPOTHESIS: Glucose-stimulated insulin secretion from beta-cells is a tightly regulated process that requires calcium flux to trigger exocytosis of insulin-containing vesicles. Regulation of calcium handling in beta-cells remains incompletely understood. Gem, a member of the RGK (Rad/Gem/Kir) family regulates calcium channel handling in other cell types, and Gem over-expression inhibits insulin release in insulin-secreting Min6 cells. The aim of this study was to explore the role of Gem in insulin secretion. We hypothesised that Gem may regulate insulin secretion and thus affect glucose tolerance in vivo.

METHODS: Gem-deficient mice were generated and their metabolic phenotype characterised ...


Endocrine Complications In Patients Of Beta Thalassemia Major In A Tertiary Care Hospital In Pakistan, Amina Adil, Zain A. Sobani, Abdul Jabbar, Salman N Adil, Safia Awan 2012 Aga Khan University

Endocrine Complications In Patients Of Beta Thalassemia Major In A Tertiary Care Hospital In Pakistan, Amina Adil, Zain A. Sobani, Abdul Jabbar, Salman N Adil, Safia Awan

Section of Diabetes, Endocrinology and Metabolism

OBJECTIVE: To determine the major endocrine complications present in patients of Thalassemia major presenting to a tertiary care center in Karachi, Pakistan.

METHODS: Records of all thallasemia major patients at a Haematology Department in a tertiary care hospital of Karachi were retrospectively reviewed from May to August 2009 with specific focus on endocrine data and investigations. The patients' data was recorded in a questionnaire and analyzed using SPSS v.17, frequencies and percentages along with corresponding 95% confidence interval were computed.

RESULTS: Our data revealed that a significantly small percentage of those under care received regular endocrine follow-up. Male hypo-gonadal ...


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