Results 61 to 70 of about 6,328 (193)

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

Carrier detection and phenotypic expression in a family with hereditary coproporphyria [PDF]

, 2007
University of Technology, Sydney. Faculty of Science.Introduction: Hereditary coproporphyria (HCP) is an autosomal dominant disorder that results from defects in the enzyme coproporphyrinogen oxidase (CPOX).
Al Hafid, N
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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  

Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study

JIMD Reports, 2023
Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being.
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance   +16 more
doaj   +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

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
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Serum organochlorines and urinary porphyrin pattern in a population highly exposed to hexachlorobenzene [PDF]

, 2002
Background: Porphyria cutanea tarda (PCT) is caused by hexachlorobenzene (HCB) in several species of laboratory mammals, but the human evidence is contradictory.
Jordi Sunyer, Carmen Herrero, Dolores Ozalla, Maria Sala, Núria Ribas-Fitó, Joan Grimalt, Xavier Basagaña, RK Ockner, H Peters, I Dogramaci, I Dogramaci, ES Mazzei, A Morley, JE Burns, MF Currier, JO Grimalt, M Sala, C Herrero, JL Santos, WE Daniell, M Sala, J To-Figueras, E Rossi, GH Elder, D Ozalla, E Rocchi, JE Burns, A Sélden, RE Jones, GM Calvert, D Jung, G García-Vargas, JS Woods, GYH Lyp, PR Sinclair, APJM van Birgelen   +35 more
core   +1 more source

High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria

JIMD Reports, 2022
Hereditary coproporphyria (HCP) is the rarest of the autosomal dominant acute porphyrias with an estimated incidence of 0.02 per 10 million per year.
Cindy Towns, Sobana Balakrishnan, Chris Florkowski, Andrew Davies, Elaine Barrington‐Ward   +4 more
doaj   +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

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