Results 31 to 40 of about 3,451 (171)

Acute intermittent porphyria in the puerperium [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2010
Introduction. Acute intermittent porphyria emerges as a result of partial defect of porphobilinogen deaminase and is manifested by repeated episodes of somatic, psychiatric and neurological disorders.
Sparić Radmila, Berisavac Ivana, Arsenijević Ljubica, Berisavac Milica, Dokić Milan, Savić Olivera, Ilić-Mostić Tatjana, Kadija Saša   +7 more
doaj   +1 more source

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source

Safe use of perampanel in a carrier of variegate porphyria [PDF]

, 2016
Objectives. Treatment of chronic epilepsy in acute porphyrias may be difficult because many antiepileptic drugs can cause activation of clinically-latent conditions. Methods.
Balestrini, S, Hart, Y, Sisodiya, SM, Thunell, S   +3 more
core   +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.
A Morley, A Sélden, APJM van Birgelen, C Herrero, Carmen Herrero, D Jung, D Ozalla, Dolores Ozalla, E Rocchi, E Rossi, ES Mazzei, G García-Vargas, GH Elder, GM Calvert, GYH Lyp, H Peters, I Dogramaci, I Dogramaci, J To-Figueras, JE Burns, JE Burns, JL Santos, JO Grimalt, Joan Grimalt, Jordi Sunyer, JS Woods, M Sala, M Sala, Maria Sala, MF Currier, Núria Ribas-Fitó, PR Sinclair, RE Jones, RK Ockner, WE Daniell, Xavier Basagaña   +35 more
core   +2 more sources

Acute intermittent porphyria (AIP) in a patient with celiac disease

Neurological Research and Practice, 2020
We present the case of an 18 year old Caucasian with known celiac disease, who suffered a severe first attack of acute intermittent porphyria (AIP) with neuropsychiatric symptoms, severe tetraparesis and respiratory insufficiency.
Sebastian Nunnemann, Christoph Uibel, Petra Budig, Mathias Mäurer   +3 more
doaj   +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, Amal Mohamed, Shuhan He, Cory Rohlfsen   +3 more
wiley   +1 more source

A family with acute intermittent porphyria [PDF]

, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core   +1 more source

Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2. [PDF]

, 2016
CONTEXT: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD), resulting from activating mutations in the arginine vasopressin receptor type 2 (AVPR2), is a rare cause of hyponatraemia.
Adrogué, Audet, Ball, Bes, Bockenhauer, Brachet, Carpentier, Clayton, Cowen, Decaux, Erdélyi, Feldman, Fu, Gitelman, Gupta, Hinchliffe, Hu, Huang, Kelley, Marcialis, Ranchin, Renneboog, Robertson, Robertson, Rochdi, Rovati, Soule, Spanakis, Spasovski, Spiegel, Tenenbaum, Vandergheynst, Vassart, Verbalis, Wald, Zerbe   +35 more
core   +2 more sources

Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi, Masood Ghahvechi Akbari, Seyed Abbas Hassani, Hosein Alimadadi, Morteza Heidari, Vahid Ziaee   +5 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., Barnadas, M. A., Curell, R., de Moragas, J. M., Garcia-Patos, V., Kind, P., Pedro, C., Perez, E., Sander, C. A.   +8 more
core   +1 more source