Results 161 to 170 of about 78,813 (265)

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Psychological symptoms as the initial manifestation of choline kinase β-related muscular dystrophy. [PDF]

J Transl Int Med
Wu Y, Lu Y, Liu C, Wang Y, Chu X, Wang Z, Yuan Y, Xie Z.   +7 more
europepmc   +1 more source

Ocular Manifestations of Infectious Salmon Anaemia Virus Infection in Atlantic Salmon (Salmo salar)

Journal of Fish Diseases, EarlyView.
ABSTRACT Eyes are essential sensory organs needed by teleost Atlantic salmon for high visual acuity and survival in both the wild and in aquaculture settings. In this work, we assessed the ocular manifestations of Infectious Salmon Anaemia Virus (ISAV) infection in Atlantic salmon by a cohabitation‐mediated infection assay and histological and ...
Emily Mahon, Rebecca R. Kwabiah, Hélène Paradis, Manuel A. Soto‐Dávila, Sathees Duglas, Raja Ram Gurung, Thurka Paramanathan, Ignacio Vasquez, Shams Al‐Badoosh, John Law, Javier Santander, Mark D. Fast, Robert L. Gendron   +12 more
wiley   +1 more source

Salivary Viscosity as a Non‐Invasive Candidate Biomarker Associated With Aspiration Risk in Oculopharyngeal Muscular Dystrophy

Journal of Oral Rehabilitation, EarlyView.
Patients with oculopharyngeal muscular dystrophy exhibit disease‐specific salivary hyperviscosity that tracks with dysphagia severity and airway invasion. Non‐invasive chairside screening of salivary viscosity may enable clinicians to stratify aspiration risk during routine care to prevent severe pulmonary complications.
Alex Zvulunov, Rawan Saif, Liraz Olmer, Merav Ben‐David, Limor Benyamini, Amir Dori, Noam Yarom, Lior Greenbaum, Ephraim Tzur, Silvina Friedlander‐Barenboim   +9 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in Brazil. [PDF]

Arq Neuropsiquiatr
Araujo APQC, Barbosa AVS, Becker MM, Braga AA, Costa MCM, Fonseca ATQSM, França Junior MC, Giannetti JG, Linden VV, Magliano CADS, Pessoa ALS, Zanoteli E.   +11 more
europepmc   +1 more source

Investigating the Relationship Between Sensory Processing, Pain and Toe Walking Gait: A Survey Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study aimed to examine sensory processing patterns, the frequency and impact of parent‐reported pain in children who toe walk across a range of diagnoses using validated caregiver‐report tools. Methods An online cross‐sectional survey was distributed internationally between July 2024 and March 2025.
Jack H. Donne, Verity Pacey, Desiree Polt, Jennifer A. Powell, Michael C. Fahey, Cylie M. Williams   +5 more
wiley   +1 more source

(Z)-Endoxifen as a Potential Modulator of Utrophin Pathways in Duchenne Muscular Dystrophy: A Mechanistic and Transcriptomic Perspective. [PDF]

Degener Neurol Neuromuscul Dis
Remmel HL, Hammer SS, Blackburn SM, Quay SC.   +3 more
europepmc   +1 more source

Age‐Specific Normative Values for the Sitting‐Rising Test in Brazilian Children and Adolescents

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Functional assessment of children and adolescents is essential for monitoring motor development and for the prevention of deficits that may impact health and quality of life. In primary care contexts, the implementation of simple and cost‐effective tests has been a pragmatic strategy, particularly in low‐ and middle‐income ...
Cíntia de Oliveira Cunha, Ana Luiza Righetto Greco, Gustavo Henrique Leite de Souza, Layra Alves Guimarães, Thailyne Bizinotto, Celmo Celeno Porto, Cibelle Kayenne Martins Roberto Formiga   +6 more
wiley   +1 more source

Awareness of Duchenne muscular dystrophy among medical staff in China: a multicenter cross-sectional survey. [PDF]

Front Pediatr
Zhai C, Wang J, Xia B, Guo Y, Zhang Y, Jiao Y, Shi XJ, Li H, Zhou H.   +8 more
europepmc   +1 more source