Results 51 to 60 of about 3,597 (170)

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

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

Acute Intermittent Porphyria: Current Perspectives And Case Presentation

Therapeutics and Clinical Risk Management, 2019
Zachary Spiritos,1 Shakirat Salvador,2 Diana Mosquera,3 Julius Wilder1,4 1Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA; 2Department of Medicine, Division of Gastroenterology, Vanderbilt ...
Spiritos Z, Salvador S, Mosquera D, Wilder J   +3 more
doaj  

Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria

Case Reports in Transplantation
Acute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides, Joachim Andrassy, Markus Guba, Manfred Stangl, Olivia Bronisch, Maria K. Beykirch   +5 more
doaj   +1 more source

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +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

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

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard   +11 more
doaj   +1 more source

Cardiac calcification in acute intermittent porphyria

Annals of Pediatric Cardiology, 2011
Aetiology of pericardial calcifications can be multifactorial. Tuberculosis has been reported as the most common cause. Other known causes include uraemia, asbestosis, post-traumatic or postoperative.
Tanmoy Ghatak, Afzal Azim, Arvind K Baronia, Banani Poddar   +3 more
doaj   +1 more source