Fady Hannah‐Shmouni

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

Judith S. Miller, Cristan Farmer, Susan Blair, Simona Bianconi et autres

BACKGROUND: The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD). METHODS: Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up …

us, ca (code pays fourni par la source)

Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim–Chester Disease (ECD)

Sonal Vaid, Juvianee Estrada‐Veras, William A. Gahl, Nicholas J. Patronas et autres

Purpose: Erdheim–Chester disease (ECD) is an L Group Langerhans histiocytosis associated with pathogenic variants within the MAPK pathways, most commonly the BRAF gene. We analyzed prevalence, genetic, biochemical, and pituitary imaging features associated with arginine vasopressin deficiency (AVP-D), one of the most …

us, ca (code pays fourni par la source)

Clinical Characteristics of Creatine Transporter Deficiency (CTD): Final Results of the Vigilan Observational Study (P8-8.002)

Melanie Brandabur, Simona Bianconi, Irina Anselm, Bruce A. Barshop et autres

To enhance understanding of symptoms and developmental course of people living with CTD, contribute to development of therapeutic intervention programs, and identify potential study endpoints relevant to CTD.

us, ca, gb (code pays fourni par la source)

Editorial: Adrenal neuroendocrine system and cardiometabolic health: pathophysiology and clinical implications

Moe Thuzar, Fady Hannah‐Shmouni, Michael Stowasser

pg. 2 Metabolic syndrome (MetS) and cardiovascular diseases (CVDs) represent the largest disease burden at a global level 1 . The situation warrants a broader and more thorough understanding of the pathophysiological factors regulating cardiometabolic health to identify potential novel targets and/or …

au, ca (code pays fourni par la source)

Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency”

Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif et autres

[This corrects the article DOI: 10.1016/j.ymgmr.2023.101001.].

us (code pays fourni par la source)

SAT614 Clinical, Laboratory And Imaging Features Associated With Central Diabetes Insipidus (Arginine Vasopressin Deficiency) In Erdheim-Chester Disease (ECD)

Sonal Vaid, Juvianee Estrada‐Veras, William A. Gahl, Patronas Nicholas et autres

Abstract Disclosure: S. Vaid: None. J. Estrada-Veras: None. W. Gahl: None. P. Nicholas: None. R. Dave: None. B. Gochuico: None. K. O'Brien: None. F. Hannah-Shmouni: None. S. Shekhar: None. Background: Erdheim-Chester disease (ECD) is a rare, non-Langerhans, histiocytic multisystemic disorder commonly associated …

us, ca (code pays fourni par la source)

List of contributors

Joseph Ahn, Shankara Anand, Omar Arnaout, Anuja Bandyopadhyay et autres

us, it, in, sg, hk (code pays fourni par la source)

Artificial intelligence in endocrinology

Ethan Brown, Fady Hannah‐Shmouni, Skand Shekhar

us (code pays fourni par la source)

Characterizing Hypertension Specialist Care in Canada: A National Survey

Samantha Lui, Lisa Dubrofsky, Nadia Khan, Sheldon W. Tobe et autres

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 hypertension care compliments primary care for these complex patients and contributes to an overall hypertension control …

ca, us (code pays fourni par la source)

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif et autres

Background: (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 and total tau are abnormal in Alzheimer disease (AD), a common neurodegenerative disorder pathologically characterized by Aβ peptide containing amyloid plaques and tau neurofibrillary tangles. Although …

us (code pays fourni par la source)

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook et autres

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, increase mechanistic understanding, and facilitate research …

us (code pays fourni par la source)

Ascending Aorta 4D Time to Peak Distention Sexual Dimorphism and Association with Coronary Plaque Burden Severity in Women

Ahmed Hamimi, Ahmed Ghanem, Fady Hannah‐Shmouni, Reham M. Elgarf et autres

us, ca (code pays fourni par la source)