Results 51 to 60 of about 1,644 (213)

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

Variegate porphyria onset as neurovisceral manifestation and unusual sensory impairment distribution. Case report

Brain Disorders
Background: Acute hepatic porphyrias are heme metabolism disorders presenting with a broad clinical spectrum, including neurovisceral manifestations. Peripheral neuropathy is one of the most frequent complications in porphyrias and can correspond about ...
Lucas Grobério Moulim de Moraes, Caroline Colnago Demoner, Amanda Ambrosini Cipriano, Giselle Alves de Oliveira, Raphael de Paula Doyle Maia, Paula Zago Melo Dias, Mariana Lacerda Reis Grenfell, Renann Nunes Pirola, Marcelo Ramos Muniz   +8 more
doaj   +1 more source

Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment

The Journal of Dermatology, Volume 53, Issue 6, Page 930-933, June 2026.
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, Naoya Murayama, Ruri Nakamuta, Masahisa Watanabe, Aya Tanaka, Hiroyuki Murota   +5 more
wiley   +1 more source

Early diagnosis of porphyria cutanea tarda as a key to avoiding scarring – a mild form of the disease

Przegląd Dermatologiczny, 2019
Porphyria cutanea tarda belongs to the group of porphyrias. Porphyria is a heme disorder caused by an acquired or congenital defect of hepatic enzymes. This consequently leads to the accumulation of porphyrins in various organs.
Marcela Nowak, Dorota Mehrholz, Wioletta Barańska-Rybak, Roman Nowicki   +3 more
doaj   +1 more source

Reversible cerebral vasoconstriction syndrome: A narrative review

Headache: The Journal of Head and Face Pain, Volume 66, Issue 5, Page 1162-1180, May 2026.
Abstract Objectives/Background This review summarizes current insights into Reversible cerebral vasoconstriction syndrome (RCVS) diagnosis, management, and outcomes. RCVS is a cerebrovascular disorder characterized by recurrent thunderclap headaches and transient segmental vasoconstriction of cerebral arteries, typically resolving within 3 months ...
Ícaro Araújo de Sousa, Abner da Silva Machado, Arthur de Oliveira Veras, Thiago Oscar Goulart, Sarah Galassi Tatsuta, Trajano Aguiar Pires Gonçalves, Eva Rocha, Octávio Marques Pontes‐Neto   +7 more
wiley   +1 more source

Acute Hepatic Porphyrias: “Purple Flags”—Clinical Features that should Prompt Specific Diagnostic Testing

, 2022
Background Porphyrias are a group of rare diseases leading to dysregulation in heme biosynthesis and the accumulation of heme precursors, including porphyrinogens, which in their oxidized states [porphyrins] are reddish or purple.
M. Felicity Stewart, Karl E. Anderson, Herbert L. Bonkovsky, Robert J. Desnick, Paolo Ventura, M. FelicityStewart   +5 more
core   +1 more source

Reversible Neurological Manifestations Preceding Biochemical Deterioration in Postpartum HELLP Syndrome—A Case Report and Literature Review

The Journal of Clinical Hypertension, Volume 28, Issue 5, May 2026.
ABSTRACT Posterior reversible encephalopathy syndrome (PRES) is a rare but severe neurological complication associated with hypertensive disorders of pregnancy and HELLP syndrome. We report a postpartum case in which neurological manifestations preceded the full biochemical expression of HELLP syndrome. A 22‐year‐old primigravida was admitted at 36 + 0
Dario Colacurci, Stefano Raffaele Giannubilo, Laura Sarno, Caterina Fulgione, Laura Letizia Mazzarelli, Angelo Sirico, Maria Liberata Meccariello, Andrea Albanese, Dayana Quintili, Irene Lubinski, Mario Ascione, Carla Riccardi, Giorgia D'Apice, Mariarosaria Motta, Sara Iannantuoni, Chiara Murolo, Giuseppe Bifulco, Costantino Di Carlo, Andrea Ciavattini, Giuseppe Maria Maruotti   +19 more
wiley   +1 more source

Atypical Guillain‐Barré Syndrome Preceding Icteric Hepatitis A: A Diagnostic Challenge—A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Guillain–Barré syndrome (GBS) is an acute immune‐mediated neuropathy typically triggered by infections. Rarely, it may precede acute hepatitis A (HAV), creating diagnostic challenges. We report a 32‐year‐old male presenting with ascending weakness and tingling in limbs without initial hepatic symptoms.
Asem Afana, Ahmed H. Sharaf, Jana Omar, Ahmad Elkhazin, Hossam Salameh   +4 more
wiley   +1 more source

Nutritional Regulation of Hepatic Heme Biosynthesis and Porphyria through PGC-1α [PDF]

, 2005
Inducible hepatic porphyrias are inherited genetic disorders of enzymes of heme biosynthesis. The main clinical manifestations are acute attacks of neuropsychiatric symptoms frequently precipitated by drugs, hormones, or fasting, associated with ...
Lin, J., Handschin, Christoph, Rhee, James, Peyer, Anne-Kathrin, Meyer, Urs A, Spiegelman, Bruce M., Handschin, C., Spiegelman, Bruce M, Meyer, U. A., Lin, Jiandie, Rhee, J., Wu, P. -H., Peyer, A. -K., Chin, Sherry, Meyer, Urs A., Spiegelman, B. M., Chin, S., Wu, Pei-Hsuan   +17 more
core   +1 more source

Update on the diagnosis and management of the autosomal dominant acute hepatic porphyrias

, 2022
The autosomal dominant acute hepatic porphyrias (AHPs), acute intermittent porphyria, hereditary coproporphyria (HCP) and variegate porphyria (VP), are low penetrance adult onset disorders caused by partial deficiency of enzymes of haem biosynthesis. All
Rees, David, Stewart, Felicity, Badminton, Mike, Schulenburg-Brand, Danja, Stein, Penelope   +4 more
core   +1 more source