Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study [PDF]
, 2016 Background: The acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks.
Balwani, M +4 more
core +1 more source
Clinical Case Reports, 2020 In cases of recurrent attacks of acute porphyria during pregnancy, prophylactic administration of heme arginate should be considered. Clinical and biochemical monitoring of the disease and a close collaboration with a porphyria center are crucial.
Daphne Vassiliou +3 more
doaj +1 more source
A Propos D'une Forme Nerveuse Pure A Evolution Cyclique De Porphyrie Aigue [PDF]
Acta Medica Iranica, 1959 A case of acute porphyria with polynevrite is described. Evidence of porphyria has been formed in other members of the family.
Gharib, Zamani
doaj
Many pitfalls in diagnosis of acute intermittent porphyria: a case report
BMC Research Notes, 2018 Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika +13 more
doaj +1 more source
Desensitization in patients with hypersensitivity to haem arginate: A case report
World Allergy Organization Journal, 2019 Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman +3 more
doaj +1 more source
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria [PDF]
, 1992 A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion
Bourgeois, F. (Francine) +6 more
core +1 more source
The “5L” framework of diagnostic reasoning: A stepwise scaffold to support clinician educators
Journal of Hospital Medicine, EarlyView.Abstract Diagnostic reasoning (DR) is a core clinical skill, yet its teaching remains variable. We introduce the “5L” framework as a bedside teaching scaffold that gives educators and learners a shared, stepwise set of prompts for DR during individual encounters. By asking, “What's Lethal? What's Likely? What's Logical? What's Lurking?
Olivia Brumfield +3 more
wiley +1 more source
Kaposi's sarcoma in a patient with erythroblastopenia and thymoma: Reactivation after topical corticosteroids [PDF]
, 1998 We report a 69-year-old female with erythroblastopenia and thymoma who developed lesions of Kaposi's sarcoma (KS) after thymectomy, 2 months after the initiation of therapy with methylprednisolone.
Alomar, A. +8 more
core +1 more source
The Journal of Dermatology, EarlyView.ABSTRACT A 50‐year‐old female patient was referred to our department for consultation regarding perioperative management of breast cancer surgery. She had a history of photosensitivity since childhood and was diagnosed with erythropoietic protoporphyria (EPP) during her first pregnancy.
Fumika Tateishi +5 more
wiley +1 more source
Serum organochlorines and urinary porphyrin pattern in a population highly exposed to hexachlorobenzene [PDF]
, 2002 Background: Porphyria cutanea tarda (PCT) is caused by hexachlorobenzene (HCB) in several species of laboratory mammals, but the human evidence is contradictory.
Jordi Sunyer +35 more
core +1 more source