Results 41 to 50 of about 1,436 (153)

Afamelanotide for Erythropoietic Protoporphyria

New England Journal of Medicine, 2015
Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life.We conducted ...
Langendonk, JG, Balwani, M, Anderson, KE, Bonkovsky, HL, Anstey, AV, Bissell, M, Bloomer, J, Edwards, C, Neumann, NJ, Parker, C, Phillips, J, Lim, HW, Hamzavi, I, Deybach, JC, Kauppinen, R, Rhodes, LE; id_orcid 0000-0002-9107-6654, Frank, J, Murphy, GM, Karstens, FPJ, Sijbrands, EJG, de, Rooij FWM, Lebwohl, M, Naik, H, Goding, CR, Wilson, JHP, Desnick, RJ   +25 more
openaire   +4 more sources

Afamelanotide improves quality of life and light tolerance in Austrian erythropoietic protoporphyria patients

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background Erythropoietic protoporphyria (EPP) is a rare genetic disorder characterized by severe phototoxic reactions that occur within minutes of light exposure. In clinical studies, afamelanotide has been shown to prolong pain‐free sun exposure, improve quality of life, and reduce the frequency and severity of phototoxic reactions ...
Magdalena Seidl‐Philipp, Hanna Schratter, Johanna Auer, Gerold Schwantzer, Maximilian Lammer, Philipp Hinteregger, Ines Vergeiner, Robert Gruber, Peter Wolf, Angelika Hofer   +9 more
wiley   +1 more source

Tolerability of hormonal treatments in acute hepatic porphyria patients

Internal Medicine Journal, EarlyView.
Abstract Background Acute hepatic porphyria (AHP) flares have been associated with female hormones and the use of hormonal treatments. Women with AHP are traditionally advised to avoid exogenous oestrogen and progesterone, limiting options for contraception and management of menorrhagia, dysmenorrhoea and menopausal symptoms.
Andjela Arandjelovic, Charlotte Ross, Gayle Ross   +2 more
wiley   +1 more source

A low‐cost handheld device for monitoring cutaneous photosensitivity

Photochemistry and Photobiology, EarlyView.
The cutaneous photosensitivity detection (CPD) device is a handheld contact‐based measurement device using 405 nm excitation and red fluorescence detection for monitoring skin phototoxicity risk after photodynamic therapy (PDT) procedures involving systemic aminolaevulinic acid (ALA) induced protoporphyrin IX (PpIX) photosensitization.
Md Asaduzzaman Rasel, Ryan Beland, Shakir Khan, Tayyaba Hasan, Jonathan P. Celli   +4 more
wiley   +1 more source

Counseling Families on Long‐Term Outcomes After Supraglottoplasty for Laryngomalacia: A Single‐Surgeon Patient‐Reported Outcome Cohort With 15‐Year Follow‐Up

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 4, August 2026.
ABSTRACT Objective To provide long‐term patient‐reported outcome data to inform preoperative counseling for supraglottoplasty, and to determine whether any residual symptom burden reflects ongoing laryngeal dysfunction or broader health factors such as comorbidity.
Luke M. O'Neil, Shyan Vijayasekaran
wiley   +1 more source

Surgical treatment for breast cancer in a patient with erythropoietic protoporphyria and photosensitivity: a case report

Surgical Case Reports, 2021
Background Erythropoietic protoporphyria (EPP) is a rare disorder of heme synthesis. Patients with EPP mainly show symptoms of photosensitivity, but approximately 20% of EPPs are associated with the liver-related complications. We report a case of breast
Akiko Shimazaki, Takuma Hashimoto, Masaya Kai, Tetsuzo Nakayama, Mai Yamada, Karen Zaguirre, Kentaro Tokuda, Makoto Kubo, Ken Yamaura, Masafumi Nakamura   +9 more
doaj   +1 more source

Puzzling cases of pediatric microcytosis

Pediatric Hematology Oncology Journal
Background: Iron deficiency anemia is a common diagnosis in the pediatric age group and often attributed to poor diet, excessive milk intake, or blood loss.
Alyssa Wilder, Nadia Cheek, Julie Voeller, Timothy C. Griffin, Latha Prasannan   +4 more
doaj   +1 more source

Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment

The Journal of Dermatology, Volume 53, Issue 6, Page 930-933, June 2026.
ABSTRACT A 50‐year‐old female patient was referred to our department for consultation regarding perioperative management of breast cancer surgery. She had a history of photosensitivity since childhood and was diagnosed with erythropoietic protoporphyria (EPP) during her first pregnancy.
Fumika Tateishi, Naoya Murayama, Ruri Nakamuta, Masahisa Watanabe, Aya Tanaka, Hiroyuki Murota   +5 more
wiley   +1 more source

Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT The Rare Diseases Clinical Research Network (RDCRN) was established to improve diagnosis, treatment, and research collaboration across rare diseases through collaborative, multi‐site, translational, and clinical research. Its governance framework promotes efficient data sharing and collaboration among research consortia, NIH representatives ...
Mirna Chehade, Sheridan Meyers, Talaya McCright‐Gill, Rogerwene Gifford, Mustafa Sahin, Michael E. Shy, Michele Manion, Dakota Campbell, Marc E. Rothenberg, Maurizio Macaluso   +9 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source