Results 31 to 40 of about 2,338 (181)

Endothelial Dysfunction in Acute Hepatic Porphyrias

Diagnostics, 2022
Background Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term ...
Andrea Ricci, Gilda Sandri, Matteo Marcacci, Elena Di Pierro, Francesca Granata, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura   +8 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Update on Menopause Hormone Therapy; Current Indications and Unanswered Questions

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To provide clinicians involved in managing menopause with a summary of current evidence surrounding menopause hormone therapy (MHT). Design The authors evaluate and synthesize existing pooled evidence relating to MHT's clinical indications, efficacy, and safety and explore the limitations of existing data. Patients The review focuses
Annice Mukherjee, Susan R. Davis
wiley   +1 more source

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source

D‐Allulose as a Low‐Calorie Sweetener: A 30‐Day Randomized, Double‐Blind Study on Gastrointestinal Tolerance and Systemic Safety to Support Its Application in Healthy Diets

Food Science &Nutrition, Volume 14, Issue 7, July 2026.
This graphical abstract presents the key design and findings of a 30‐day trial evaluating the safety of fermented D‐allulose in healthy Chinese adults. Fifty eligible adults were randomized to receive either low‐dose (24 g/day, n = 24) or high‐dose (36 g/day, n = 26) D‐allulose for 30 days.
Lijuan Qi, Junyu Ning, Jiangli Han, Nan Zhang, Wenjing Zhang, Fangfang Wang, Dan Li, Zinan Li, Yanmin Nie, Haiming Jing, Shan Gao   +10 more
wiley   +1 more source

Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias

eLife, 2016
Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to ...
Bradford M Stubenhaus, John P Dustin, Emily R Neverett, Megan S Beaudry, Leanna E Nadeau, Ethan Burk-McCoy, Xinwen He, Bret J Pearson, Jason Pellettieri   +8 more
doaj   +1 more source

Acute porphyrias – A neurological perspective

Brain and Behavior, 2021
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel   +5 more
doaj   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

A Diagnostic Pitfall of Primary Aldosteronism Presenting as Recurrent Quadriparesis: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Quadriparesis refers to weakness affecting all four limbs. While most cases are neurogenic in origin, stemming from central or peripheral nervous system pathology, non‐neurogenic causes are less common and often under‐recognized. These include systemic or metabolic conditions that secondarily impair neuromuscular function.
Javed Shakir, Javeria Benyamin, Muhammad Usman Iqbal, Abdullah Sohail, Aafaq Mazhar, Hafiz Muhammad Abdullah, Erum Habib, Naseeb Danaf   +7 more
wiley   +1 more source

Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias

Molecular Genetics and Metabolism Reports, 2022
Elagolix is an FDA-approved treatment for moderate-to-severe pain associated with endometriosis but has been associated with increased acute porphyric attacks in women with the acute hepatic porphyrias (AHPs).
Christopher D. Ma, Herbert L. Bonkovsky
doaj   +1 more source