Results 41 to 50 of about 3,279 (202)
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 +8 more
doaj +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
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
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 +2 more
wiley +1 more source
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
Pediatric Dermatology, EarlyView.ABSTRACT We present a case where the combination of severe hydrops fetalis, lymphangiectasia, and skin desquamation created a clinical picture that masqueraded as epidermolysis bullosa (EB). A neonate presented at birth with severe hydrops fetalis and extensive skin sloughing.
Sophia Rafferty +5 more
wiley +1 more source
Skin Health and DiseaseCongenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase.
Pierre Peterlin +12 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 +5 more
doaj +1 more source
Biochemical differentiation of the porphyrias [PDF]
, 1999 Objectives: To differentiate the porphyrias by clinical and biochemical methods. Design and methods: We describe levels of blood, urine, and fecal porphyrins and their precursors in the porphyrias and present an algorithm for their biochemical ...
Linda Oliveras +2 more
core
The photodynamic and non-photodynamic actions of porphyrins
Brazilian Journal of Medical and Biological Research, 1999 Porphyrias are a family of inherited diseases, each associated with a partial defect in one of the enzymes of the heme biosynthetic pathway. In six of the eight porphyrias described, the main clinical manifestation is skin photosensitivity brought about ...
S.G. Afonso +2 more
doaj +1 more source