Results 51 to 60 of about 8,404 (212)

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

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome

BMC Neurology
Background Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES).
Hideo Handa, Hiroki Masuda, Satoki Hanayama, Amika Kajiyama, Sawako Suzuki, Atsuhiko Sugiyama, Koutaro Yokote, Satoshi Kuwabara   +7 more
doaj   +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

Acute intermittent porphyria in adults: a clinical case

Кубанский научный медицинский вестник, 2022
Background. Porphyria unites genetic pathologies related to abnormal haem (an intermediate product of haemoglobin metabolism) synthesis and its toxic products accumulation in human body.
M. A. Barabanova, Yu. A. Tsymbal, E. Yu. Efimenko, T. A. Petropavlovskaia, I. A. Velichko   +4 more
doaj   +1 more source

Nerve Function and Dysfunction in Acute Intermittent Porphyria

, 2009
Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by mutations of the porphobilinogen deaminase gene. Clinical manifestations of AIP are caused by the neurotoxic effects of increased porphyrin precursors, although the ...
Lin, C. S.-Y.; Krishnan, A. V.; Lee, M.-J.; Zagami, A. S.; You, H.-L.; Yang, C.-C.; Bostock, H.; Kiernan, M. C., 李銘仁;楊智超   +1 more
core   +1 more source

Neurological Complications of Acute Intermittent Porphyria

, 2012
Background: Acute intermittent porphyria (AIP) is an inherited disorder of heme biosynthesis, the clinical manifestations of which are incompletely understood.
郭弘周;黃錦章;朱俊哲;李銘仁;莊雯莉;吳東霖;甯孝真;劉智仰, KUO, HUNG-CHOU;HUANG, CHIN-CHANG;CHU, CHUN-CHE;LEE, MING-JEN;CHUANG, WEN-LI;WU, TONY T.;NING, HSIAO-CHEN;LIU, CHIH-YANG   +1 more
core   +1 more source

Severe Abdominal Pain as a Prominent Clinical Manifestation of Anti‐DPPX Autoimmune Encephalitis: A Case Report and Systematic Review

Immunity, Inflammation and Disease, Volume 14, Issue 6, June 2026.
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi, Haohao Wu, Baogang Huang, Yan Zheng, Jia Liu, Jianjian Bao, Fengming Xu, Kang Du   +7 more
wiley   +1 more source

Acute Intermittent Porphyria: Diagnostic Conundrums [PDF]

, 1994
Summary: Acute intermittent porphyria is a genetic disorder of haem biosynthesis caused by defects in the gene encoding hydroxymethylbilane synthase on the long arm of chromosome 11.
T. J. Peters, W. S. Wassif, Thunell, S., Ylva Flodenis, A. C. Deacon, Peters, T. J., Floderus, Ylva, Wassif, W. S., Deacon, A. C., S. Tliunelp   +9 more
core   +1 more source

Diagnostic difficulty in a patient with recurrent attacks of acute polyneuropathy: Acute intermittent porphyria

, 2021
Acute intermittent porphyria is one of the most common porphyria subtypes. There is a critical need to diagnose porphyria, given its multisystem nature and the poor prognosis associated with incurable cases.
Tokgun, Onur, Tekin, Selma, Karagulmez, Magrur, Degirmenci, Eylem, Erdogan, Cagdas   +4 more
core   +1 more source

The “5L” framework of diagnostic reasoning: A stepwise scaffold to support clinician educators

Journal of Hospital Medicine, Volume 21, Issue 6, Page 665-669, June 2026.
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