Results 31 to 40 of about 2,384 (181)

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

Differential Effects of Dupilumab in a Patient With Localized Heat Urticaria, Delayed Solar Urticaria, and Symptomatic Dermographism

The Journal of Dermatology, EarlyView.
ABSTRACT Physical urticaria is a subtype of chronic inducible urticaria characterized by wheals and/or angioedema triggered by physical stimuli. We report a refractory case of combined localized heat urticaria, delayed solar urticaria, and symptomatic dermographism in a 16‐year‐old girl.
Shuta Yoshitani, Shinichi Moriwaki, Atsushi Fukunaga   +2 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

Abortion—A brief description of the evolution of methods

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Termination of pregnancy is not a “modern” societal issue, but one that has been afforded to women, albeit with varying degrees of success, over many centuries. Methods have evolved which have increased the availability, effectiveness, and safety of abortion, while substantially reducing associated morbidity.
Laura Slade, Andrea Deussen, Jodie Dodd
wiley   +1 more source

Congenital erythropoietic porphyria: Two case reports

Indian Journal of Dermatology, 2011
Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not ...
Sankha Koley, Vikrant Saoji
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

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
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

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

Tolerability of hormonal treatments in acute hepatic porphyria patients

Internal Medicine Journal, EarlyView.
Abstract Background Acute hepatic porphyria (AHP) flares have been associated with female hormones and the use of hormonal treatments. Women with AHP are traditionally advised to avoid exogenous oestrogen and progesterone, limiting options for contraception and management of menorrhagia, dysmenorrhoea and menopausal symptoms.
Andjela Arandjelovic, Charlotte Ross, Gayle Ross   +2 more
wiley   +1 more source