Results 51 to 60 of about 526 (116)

Fair Funding Decisions: Consistency of the Time Horizons Used in the Calculation of Quality-Adjusted Life Years for Therapies for Very Rare Diseases by the National Institute for Health and Care Excellence in England. [PDF]

Int J Environ Res Public Health
The National Institute for Health and Care Excellence (NICE) in England uses quality-adjusted life years (QALYs) to assess the cost-effectiveness of treatments.
Barman-Aksözen J, Hentschel N, Pettersson M, Schupp E, Granata F, Dechant C, Aksözen MH, Falchetto R.   +7 more
europepmc   +2 more sources

Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN)

Clinical and Translational Science, Volume 18, Issue 9, September 2025.
ABSTRACT The Rare Diseases Clinical Research Network (RDCRN) comprises research consortia and other partners focused on the study of rare diseases. Its goals include sharing de‐identified data with the scientific community and other stakeholders to advance rare disease research.
Elaine Schwendeman, Henry J. Kaminski, Adeline Vanderver, Michael Wagner, Eileen King, The RDCRN Data Use & Data Sharing Committee, Michael Benatar, Lori E. Crosby, Eileen King, Matthias Kretzler, Joanne Lumsden, Peter A. Merkel, Jill Morris, Susan Ruediger, Elaine Schwendeman, Tiina Urv, Adeline Vanderver, Maurizio Macaluso   +17 more
wiley   +1 more source

Polymorphism of Melanocortin Receptor Genes—Association with Inflammatory Traits and Diseases

Diseases
Melanocortin receptors (MCRs) are responsible for various functions ranging from skin pigmentation, regulation of appetite, stress response and cognition, steroid synthesis, and energy balance to cellular regeneration and immunomodulation.
Mainak Bardhan, Ayush Anand, Amaan Javed, Maria Andrea Chilo, Nida Khan, Tulika Garg, Arihant Surana, Helen Huang, M M Samim, Vinay Suresh, Abhinav Khare, Bindu Menon, Tithishri Kundu   +12 more
doaj   +1 more source

Hailey‐Hailey Disease: An Updated Review With a Focus on Therapeutic Mechanisms

Health Science Reports, Volume 8, Issue 7, July 2025.
ABSTRACT Background Hailey‐Hailey disease (HHD), or familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by chronic, painful, erythematous, erosive plaques and fissures at sites of friction such as the neck, axilla, groin, and perineum.
Mahesh Mathur, Sumit Paudel, Nabita Bhattarai, Sambidha Karki, Sandhya Regmi   +4 more
wiley   +1 more source

Emerging drugs for the treatment of vitiligo [PDF]

, 2020
Introduction: Vitiligo is a relatively common autoimmune depigmenting disorder of the skin. There has been a great advance in understanding the pathological basis, which has led to the development and utilization of various new molecules in treating ...
Vojvodic P., Goldust M., Karagaiah P., Valle Y., Lotti T., Schwartz R. A., Grabbe S., Parsad D., Sigova J., Zerbinati N.   +9 more
core   +1 more source

Hair regrowth in alopecia areata and re‐pigmentation in vitiligo in response to treatment: Commonalities and differences

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 3, Page 498-511, March 2025.
Hair Regrowth in Alopecia Areata. This scheme summarizes recent findings in hair follicle stem cell biology and their implication to regrow hair in alopecia areata. Hair follicle stem cells reside in hair bulge abundantly. Anagen drivers are enhanced and suppressed expression levels of activators and repressors at telogen, respectively.
Hiroki L. Yamaguchi, Yuji Yamaguchi, Elena Peeva   +2 more
wiley   +1 more source

Afamelanotide in the Treatment of Dermatologic Disease

, 2018
Afamelanotide, an α-melanocyte stimulating hormone analogue, has become an emerging therapeutic option for a variety of skin conditions previously refractory to other treatments.
McNeil, Morgan M, Braunberger, Taylor L, Hamzavi, Iltefat H, Nahhas, Amanda F   +3 more
core   +1 more source

Paternal Split‐Liver Transplantation Followed by Haploidentical Hematopoietic Cell Transplantation in an Adult Patient With Protoporphyria‐Induced Liver Failure

eJHaem, Volume 6, Issue 1, February 2025.
ABSTRACT Introduction Erythropoietic Protoporphyria (EPP) caused skin light sensitivity and liver cirrhosis in a 35‐year‐old patient who subsequently developed liver‐failure. Methods In absence of a human leukocyte antigens (HLA)‐matched‐unrelated donor, the father consented in donating for split liver transplantation (SLT) and allogeneic hematopoietic
Ulrich Stölzel, Lasse Jost, Daniel Seehofer, Katharina Egger‐Heidrich, Uwe Scheuermann, Kristina Hölig, Thomas Stauch, Desiree Kunadt, Detlef Schuppan, Johannes Schetelig, Nils Wohmann, Martin Bornhäuser, Friedrich Stölzel   +12 more
wiley   +1 more source

Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone

, 2009
Erythropoietic protoporphyria (EPP) is a rare hereditary disorder characterized by dermal accumulation of the photosensitizer protoporphyrin IX. Following sunlight exposure, the resulting photosensitivity is manifested first as pain, later as erythema ...
Harms, J H, Minder, E I, Lautenschlager, S, Minder, C E, Harms JH, Minder EI, Minder CE, Lautenschlager S, Juergen H. Harms, Christoph E. Minder, Stephan Lautenschlager, Elisabeth I. Minder   +11 more
core   +1 more source

Vitiligo: A Clinical Review

, 2022
The purpose of this article is to review the significance of vitiligo in the dermatology office, explore its classification method, and discuss the current and upcoming therapeutic options. Evidence collation was obtained through PubMed key word searches
Stevens, Gregory M
core   +1 more source