Results 41 to 50 of about 4,129 (167)

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

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria [PDF]

, 2020
BACKGROUND Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to the pathogenesis of acute attacks and chronic symptoms in acute hepatic
Silver, S. M., J. Chen, Anderson, K. E., J. B. Kim, P. A. Peiró, Wang, J. D., Rees, D. C., P. Harper, M. T. Sweetser, Minder, E., Kauppinen, R., E. Minder, C. Parker, E. Sardh, Harper, P., D. Vassiliou, Vassiliou, D., S. Liu, A. R. Simon, Ventura, P., Liu, S., Ko, J. J., S. B. Keel, Keel, S. B., Vaishnaw, A., R. Kauppinen, Windyga, J., Gouya, L., Ivanova, A., J. Windyga, J. J. Ko, Sweetser, M. T., Sardh, E., M. Balwani, A. Vaishnaw, Balwani, M., Bonkovsky, H. L., Bissell, D. M., Horie, Y., S. M. Silver, J. -D. Wang, Phillips, J., B. Wang, Penz, C., D. C. Rees, Parker, C., J. G. Langendonk, and L. Gouya, J. Phillips, P. Garg, K. E. Anderson, A. Ivanova, Simon, A. R., U. Stölzel, Kim, J. B., Y. Horie, Stölzel, U., Wang, B., Chen, J., Langendonk, J. G., P. Ventura, Peiró, P. A., Garg, P., H. L. Bonkovsky, P. E. Stein, Stein, P. E., D. M. Bissell, C. Penz   +67 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

Pretransplant Evaluation of a Patient with Acute Intermittent Porphyria

, 2001
The pretransplant evaluation of a patient with a rare diagnosis requires knowledge of the pathophysiology and the transplant literature. A 55-year-old man presented with hypertensive kidney failure and the clinical diagnosis of acute intermittent ...
Karl E. Anderson, Bill J. Gurley, Sameh R. Abul-Ezz, Susan Turton-Weeks, Meredith L. Lightfoot, Gary W. Barone, Beverley L. Ketel   +6 more
core   +1 more source

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report

Journal of Medical Case Reports
Background Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler   +6 more
doaj   +1 more source

Worsening abdominal pain leading to false laparotomy: a case of acute intermittent porphyria

Journal of the Pakistan Medical Association
Acute intermittent porphyria (AIP), one of the most severe types of acute hepatic porphyria, is an autosomal dominant inherited disorder of heme biosynthesis. We present a case of a 16-year-old girl who presented with severe abdominal pain, subjected to
Tehreem Farah, Hania Batool, Nasir Ashraf, Fatima Qayyum Abbasi, Aisha Nasir   +4 more
doaj   +1 more source

A Rare Clinical Presentation of Variegate Porphyria

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
I. Viakhireva, A. Murtazina, A. Orlova, N. Makretskaya, S. Nikitin, M. Skoblov   +5 more
wiley   +1 more source

mRNA Lipid Nanoparticles for Cell Engineering in Vivo and in Vitro: Current Applications and Future Directions

MedComm, Volume 7, Issue 5, May 2026.
Schematic diagram of mRNA‐lipid nanoparticles (mRNA‐LNP) and its functional mechanisms, applications, and challenges in cell engineering. This figure details the structural composition of mRNA‐LNPs and the delivery strategy, highlighting three core challenges.
Lina Li, Menglan Wang, Xiuhan Ye, Zhiyan Liu, Yijing Duan, Xiaoming Chen, Yue Ouyang, Qibiao Wu, Mengjuan Sun, Tian Xie   +9 more
wiley   +1 more source

Caring for patients with acute intermittent porphyria.

, 1994
The porphyrias are a group of metabolic disorders of heme biosynthesis genetically determined defects. Acute intermittent porphyria is the most common form of porphyria found in the United States.
Spositio, D.L., Briones, J.P., Clochesy, J.M., Kloos, J.A., Shively, B.D.   +4 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