Results 111 to 120 of about 36,453 (301)

Practical Recommendations for Indians on Sunscreen Use—A Modified Delphi Consensus by Indian Sunscreen Forum (PRISM‐ISF)

Journal of Cosmetic Dermatology, Volume 24, Issue 9, September 2025.
ABSTRACT Background Ultraviolet (UV) radiation is a major contributor to photoaging, pigmentary disorders, and photocarcinogenesis. While sunscreens remain central to photoprotection, clinicians in India find it challenging to choose a sunscreen due to the wide variability in skin types, dermatologic conditions, climates, and formulation preferences ...
Malavika Kohli, C. R. Srinivas, Abir Saraswat, Anil Ganjoo, Atul Kathed, Geeta Patel, Indrashis Podder, D. S. Krupashankar, Maleeka Sachdev, Maya Vedamurthy, Rajat Kandhari, Rajetha Damisetty, Renita Rajan, Sanjeev Aurangabadkar, Dhiraj Dhoot, Ashwin Balasubramanian, Saiprasad Patil, Hanmant Barkate   +17 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

Dental Treatment of the Patient with Porphyria [PDF]

, 2005
Porfirije su skupina nasljednih bolesti uzrokovanih defektnim enzimima na biosintetskom putu hema. Ovisno o defektu pojedinog enzima razlikujemo i razne vrste porfirija.
Berislav Perić, Niko Krakar
core   +1 more source

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

Orphanet Journal of Rare Diseases, 2019
BackgroundAcute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis.
M. Barreda-Sánchez, Juan Buendía-Martínez, G. Glover-López, Carmen Carazo-Díaz, M. Ballesta-Martínez, V. López‐González, M. J. Sánchez-Soler, L. Rodríguez-Peña, A. T. Serrano-Antón, Remedios Gil-Ferrer, M. C. Martínez-Romero, Pablo Carbonell-Meseguer, E. Guillén-Navarro   +12 more
semanticscholar   +1 more source

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, Volume 27, Issue 4, Page 530-549, August 2025.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +1 more source

Mismatched transfusion of 8 AB0-incompatible units of packed red blood cells in a patient with acute intermittent porphyria

Saudi Journal of Anaesthesia, 2011
We report on a patient with acute intermittent porphyria, who received 8 AB0 incompatible units of packed red blood cells in an emergency situation. She never showed any signs of severe intravascular haemolysis.
Burkard Rudlof, Burkhard Just, Robert Deitenbeck, Thomas Ehmann   +3 more
doaj   +1 more source

Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature [PDF]

, 2010
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)We describe a case of acute intermittent porphyria in a woman who presented repeatedly with abdominal pain.
Brynhildur Tinna Birgisdóttir, Brynjar Viðarsson, Hilmir Ásgeirsson, Jón Jóhannes Jónsson, Steinunn Arnardóttir   +4 more
core  

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria

Frontiers in Pharmacology, 2019
The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS).
Yibao Fu, Jinmeng Jia, Lishu Yue, Ruiying Yang, Yongli Guo, X. Ni, Tieliu Shi   +6 more
semanticscholar   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source