Zobrazeno 1 - 10
of 129
pro vyhledávání: '"Fady Hannah‐Shmouni"'
Autor:
Samantha Lui, MD, Lisa Dubrofsky, MD, Nadia A. Khan, MD, MSc, Sheldon W. Tobe, MD, Jessica Huynh, MD, MHSc, Laura Kuyper, MD, Anna Mathew, MD, Syed Amin, MD, Ernesto L. Schiffrin, MD, PhD, Paula Harvey, MD, BMBS, PhD, Alexander A. Leung, MD, MPH, Marcel Ruzicka, MD, PhD, Birinder Mangat, MD, MPH, David Reid, MD, John Floras, MD, Jesse Bittman, MD, Lauren Garbutt, MD, Branko Braam, MD, Rita Suri, MD, MSc, Fady Hannah-Shmouni, MD, Ally Prebtani, MD, BScPhm, Sebastien Savard, MD, Thomas E. MacMillan, MD, MSc, Terrence D. Ruddy, MD, Michel Vallee, MD, Apoorva Bollu, MD, Alexander Logan, MD, Raj Padwal, MD, MSc, Jennifer Ringrose, MD, MSc
Publikováno v:
CJC Open, Vol 5, Iss 12, Pp 907-915 (2023)
Background: The hypertension specialist often receives referrals of patients with young-onset, severe, difficult-to-control hypertension, patients with hypertensive emergencies, and patients with secondary causes of hypertension. Specialist hypertens
Externí odkaz:
https://doaj.org/article/0a24e3d8a6084c92bf8eaf41ebafdd9d
Autor:
Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies. Genetic sequencing has the potential to shorten the current diagnostic process,
Externí odkaz:
https://doaj.org/article/e690a548a1d4449da411eb08d584528a
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
Externí odkaz:
https://doaj.org/article/7478f096bc7c42d689df92b257b8df3b
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 an
Externí odkaz:
https://doaj.org/article/f3fb51c11aca47f49c9ed8fa1ae4f882
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/1c834e4ebfbd45b8a4f0a746dd7c943e
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/37a88e9a9b0f4263a2d31517c9c85b6a
Autor:
Rachel Wurth, Abhishek Jha, Crystal Kamilaris, Anthony J Gill, Nicola Poplawski, Paraskevi Xekouki, Martha M Quezado, Karel Pacak, Constantine A Stratakis, Fady Hannah-Shmouni
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2021)
Succinate dehydrogenase deficiency has been associated with several neoplasias, including renal cell carcinoma (RCC) and those associated with hereditary paraganglioma (PGL)/ pheochromocytoma (PHEO) syndromes, Carney dyad, and Carney triad. Carney tr
Externí odkaz:
https://doaj.org/article/44eed51b3cde47f59098f4e0009f6cc6
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2020)
A 29-year-old primigravida woman with a known history of primary aldosteronism due to a right aldosteronoma presented with uncontrolled hypertension at 5 weeks of estimated gestation of a spontaneous pregnancy. Her hypertension was inadequately contr
Externí odkaz:
https://doaj.org/article/30a093de37954ee8b21c612ea24aeba8
Autor:
Rachel Wurth, Crystal Kamilaris, Naris Nilubol, Samira M Sadowski, Annabel Berthon, Martha M Quezado, Fabio R Faucz, Constantine A Stratakis, Fady Hannah-Shmouni
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2020)
Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing syndrome (CS). This condition is characterized by glucocorticoid and/or mineralocorticoid excess, and is commonly regulated by aberrant G-protein c
Externí odkaz:
https://doaj.org/article/2583f028599342c3a283cd35e7c61b2e
Autor:
Skand Shekhar, Caroline E. Copacino, Francisco J. Barrera, Janet E. Hall, Fady Hannah-Shmouni
Publikováno v:
Annals of the National Academy of Medical Sciences (India), Vol 56, Iss 02, Pp 112-115 (2020)
Coronavirus disease 2019 (COVID-19) has affected millions of people across the world but disproportionately and severely affects persons with metabolic disorders such as obesity, diabetes mellitus, and hypertension. In this brief review, we discuss t
Externí odkaz:
https://doaj.org/article/295bfbda39514206a7e16ba9cb008e08