Results 51 to 60 of about 7,124 (172)

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long‐Term Outcomes‐A Case Study

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis. Treatment with hemin and givosiran resulted in prevention of attacks and functional recovery, highlighting the importance of
Natália Rebeca Alves de Araújo Karpejany, Jose Tiburcio do Monte Neto, Ester Miranda Pereira, Isabel Andrea Ferreira Carvalho, Rafael Melo Santos de Serpa Brandão, Adalberto Socorro da Silva, Tiberio Silva Borges dos Santos, Semiramis Jamil Hadad do Monte   +7 more
wiley   +1 more source

Acute hepatic porphyrias. [PDF]

Porto Biomed J
Abstract Introduction: Porphyrias are rare genetic disorders caused by heme biosynthesis pathway enzyme mutations, leading to porphyrin precursors build up in various tissues and diverse symptoms. This review centers on acute hepatic porphyrias (AHP).
Marques I, Marcos P.
europepmc   +3 more sources

A Propos D'une Forme Nerveuse Pure A Evolution Cyclique De Porphyrie Aigue

Acta Medica Iranica, 1959
A case of acute porphyria with polynevrite is described. Evidence of porphyria has been formed in other members of the family.
Gharib, Zamani
doaj  

D‐Allulose as a Low‐Calorie Sweetener: A 30‐Day Randomized, Double‐Blind Study on Gastrointestinal Tolerance and Systemic Safety to Support Its Application in Healthy Diets

Food Science &Nutrition, Volume 14, Issue 7, July 2026.
This graphical abstract presents the key design and findings of a 30‐day trial evaluating the safety of fermented D‐allulose in healthy Chinese adults. Fifty eligible adults were randomized to receive either low‐dose (24 g/day, n = 24) or high‐dose (36 g/day, n = 26) D‐allulose for 30 days.
Lijuan Qi, Junyu Ning, Jiangli Han, Nan Zhang, Wenjing Zhang, Fangfang Wang, Dan Li, Zinan Li, Yanmin Nie, Haiming Jing, Shan Gao   +10 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

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

Porphyric encephalopathy in a 15-year-old girl: A case report

SAGE Open Medical Case Reports
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +1 more source

Feigning Acute Intermittent Porphyria

Case Reports in Psychiatry, 2014
Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning
Rania Elkhatib, Modupe Idowu, Gregory S. Brown, Yasmeen M. Jaber, Matthew B. Reid, Cheryl Person   +5 more
doaj   +1 more source

Blue LED Light Attenuates the Bacterial Bioburden in Chronic Wounds Transiently but Dose‐Dependently

Wound Repair and Regeneration, Volume 34, Issue 4, July/August 2026.
ABSTRACT Phototherapy may improve chronic wound healing through different mechanisms. We have investigated whether escalating doses of blue LED light treatment (λ = 405 nm) impact the chronic wound microbiota. Twenty‐two patients with chronic wounds were sequentially assigned to a low dose (20 J/cm2, n = 7), medium dose (60 J/cm2, n = 8), or high dose (
Frederik Plum, Aqella Rasul, Ewa Anna Burian, Claus Henrik Nielsen, Khaled S. A. Ghathian, Magnus S. Ågren, Katrine E. Karmisholt, Klaus Kirketerp‐Møller   +7 more
wiley   +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