Results 41 to 50 of about 1,633 (163)

Cross‐Cultural Beliefs and Stigmatization in Vitiligo: A Systematic Review

Journal of Cosmetic Dermatology, Volume 25, Issue 4, April 2026.
ABSTRACT Background Vitiligo is an autoimmune condition marked by depigmentation of the skin and is frequently associated with psychosocial distress. Although often dismissed as cosmetic, vitiligo carries a substantial burden influenced by cultural beliefs, stigma, and access to medical education.
Sophia Ma, Tarek Zieneldien, Isabella J. Tan, Mohammad Jafferany   +3 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

Perioperative management of patient with alkaptonuria and associated multiple comorbidities

Journal of Anaesthesiology Clinical Pharmacology, 2011
Alkaptonuria is a rare inherited genetic disorder of tyrosine metabolism characterized by a triad of homogentisic aciduria, ochronosis, and arthritis. The most common clinical manifestations of ochronosis involve the musculoskeletal, respiratory, airway,
Ravindra Pandey, Anil Kumar, Rakesh Garg, Puneet Khanna, Vanlal Darlong   +4 more
doaj   +1 more source

Alkaptonuric patient presenting with “black” disc: a case report

Acta Orthopaedica et Traumatologica Turcica, 2020
Although intervertebral disc degeneration usually occurs in the natural course of alkaptonuria, detection of the disease by black disc material in a patient without any other sign of alkaptonuria is an extremely rare condition.
Ramazan Kahveci, Mehmet Fikret Ergungor, Ahmet Gunaydin, Atiye Temiz   +3 more
doaj   +1 more source

Alkaptonuria: A hereditary disease which is usually diagnosed in adulthood

Clinical Dermatology Review, 2021
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homogentisate dioxygenase leading to accumulation of homogentisic acid.
Mudita Gupta, Rajni Sharma, Ritu Rani
doaj   +1 more source

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Palliative care should be an integral part of follow‐up for patients with life‐limiting/life‐threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi‐systemic conditions without curative treatment options.
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, Julia Neugebauer, Francois Eyskens, Dorothea Haas, Karin Mossler, Antije Enekwe, Beata Kiec‐Wilk, Lien My Diep, Cinzia Maria Bellettato, Boris Zernikow, Maurizio Scarpa, Shamima Rahman, Trine Tangeraas, MetabERN collaboration group on palliative care, Aasne K Aarsand, Patrício Aguiar, Brassier Anaϊs, Jean‐Baptiste Arnoux, Madara Auzenbaha, Olga Azevedo, Anabela Oliveira Bandeira, Amaya Belanger‐Quintana, Marcello Bellusci, Nadia Belmatoug, Andrea Bordugo, Annet M Bosch, Mara Botti, Radan Brůha, Teresa Campos, Cândida Cancelinha, Giovanni Ceccarini, Graziella Cefalo, Rimante Cerkauskiene, Ellen Crushell, Paulo Castro Chaves, Anibh Martin Das, Corinne De Laet, Terry GJ Derks, Felix Distelmaier, Dries Dobbelaere, João Durães, Marc Engelen, Ana Cristina Leal das Neves Ferreira, Serena Gasperini, Urh Groselj, Sarah C Grünert, Debray François‐Guillaume, Arlindo Guimas, Evren Gumus, Sabine Weller Grønborg, Julia B Hennermann, Javier de las Heras, Hidde H Huidekoper, Mirian Ch Janssen, Pavel Ješina, Stefan Kölker, Eva M M Hoytema van Konijnenburg, Alessandro La Rosa, Svetlana Lajic, Risto Lapatto, Elisa Leão‐Teles, Vincenzo Leuzzi, Allan M Lund, Maria Carmo Macário, Martin Magner, Giacomo Marchi, Diego Martinelli, Esmeralda Martins, Mariarosa Anna Beatrice Melone, Dorothea Moeslinger, Ahmad Ardeshir Monavari, Sónia Moreira, Nicole Muschol, Marie‐Cécile Nassogne, Andreas Oberg, Thomas Opladen, Katrin Õunap, Bianca Panis, Germaine Pierre, Francesco Porta, Pilar Quijada‐Fraile, Danijela Petković Ramadža, Esmeralda Rodrigues, Alessandro Rossi, Paula Sánchez‐Pintos, Maria Cristina Schiaffino, Anke Schumann, Sinziana Stanescu, Mojca Žerjav Tanšek, Joanna Taybert, Kiarash Tazmini, Birute Tumiene, Arnaud Vanlander, Patrick Verloo, Komninaka Veroniki, Elena Verrecchia, Natalie Weinhold, Tamara Žigman, Mette Cathrine Ørngreen   +100 more
wiley   +1 more source

First report of alkaptonuria in Peru

Revista Peruana de Medicina Experimental y Salud Pública, 2014
Alkaptonuria is an inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD) which produces an excess of homogentisic acid (HGA). A case is presented of a 57 year old woman whose urine has turned black since birth.
Daniel Guillén-Mendoza, María Quiroga de Michelena   +1 more
doaj   +1 more source

A Previously Undiagnosed Case of Alkaptonuria: A Case Report

The Turkish Journal of Gastroenterology, 2013
Alkaptonuria is a rare metabolic disorder in the phenylalanine and tyrosine catabolic pathway which is characterized by the excessive excretion of homogentisic acid in the urine, ochronosis, and debilitating arthritis of the spine and large joints ...
Mohammed ALSBOU, Nesrin MWAFI
doaj  

Ochronotic Spondyloarthropathy [PDF]

Journal of Clinical and Diagnostic Research, 2013
Images in ...
Upasana Ranga, Senthil Kumar Aiyappan , Natarajan Shanmugam , Saveetha Veeraiyan   +3 more
doaj   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source