Results 41 to 50 of about 8,391 (147)

SALT score distribution with ritlecitinib treatment up to 24 months in alopecia areata

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Ziad Reguiai, Leila Asfour, Delphine Staumont‐Sallé, Ángela Hermosa‐Gelbard, Andrea Sechi, Dalia Wajsbrot, Rahmat Ishowo‐Adejumo, Deborah Woodworth, Alexandre Lejeune   +8 more
wiley   +1 more source

Comparison of conjunctival pedicle flap to corneal fixation strength achieved by Tisseel® fibrin glue, ethyl cyanoacrylate adhesive, ReSure® hydrogel sealant, and conventional suturing with 8‐0 VICRYL® ophthalmic suture

Veterinary Ophthalmology, Volume 28, Issue 2, Page 253-263, March 2025.
Abstract Objective To determine and compare the fixation strength of conjunctival pedicle flaps to cornea achieved via conventional ophthalmic suture and three different adhesive compounds. Animals Studied Ex vivo porcine globes. Procedures Following a 6 mm wide 500‐micron‐restricted depth lamellar keratectomy, conjunctival pedicle flaps were secured ...
Elodie M. VerHulst, Roxanne M. Rodriguez Galarza, Ian P. Herring, Renata Velloso Ramos, Andrew R. Kemper   +4 more
wiley   +1 more source

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, Melissa A. Kelly, Adam P. Matson   +10 more
wiley   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Long‐term safety and efficacy of ritlecitinib in adults and adolescents with alopecia areata and at least 25% scalp hair loss: Results from the ALLEGRO‐LT phase 3, open‐label study

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 6, Page 1152-1162, June 2025.
ALLEGRO‐LT (NCT04006457) is an open‐label, phase 3 study investigating the long‐term safety and efficacy of ritlecitinib in patients with alopecia areata (AA). In this analysis in 449 de novo patients with AA and ≥25% scalp hair loss, ritlecitinib demonstrated clinical efficacy and had an acceptable safety profile through Month 24.
C. Tziotzios, R. Sinclair, A. Lesiak, S. Mehlis, M. Kinoshita‐Ise, A. Tsianakas, X. Luo, E. H. Law, R. Ishowo‐Adejumo, R. Wolk, M. Sadrarhami, A. Lejeune   +11 more
wiley   +1 more source

Patterns of clinical response in patients with alopecia areata treated with ritlecitinib in the ALLEGRO clinical development programme

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 6, Page 1163-1173, June 2025.
A post hoc analysis of Severity of Alopecia Tool (SALT) score trajectories in patients with alopecia areata who received ritlecitinib 50 mg once‐daily in ALLEGRO‐2b/3 and rolled over into the ongoing, open‐label, Phase 3 ALLEGRO‐LT study. Long‐term response patterns up to Month 24 and variables associated with treatment response are described. Abstract
B. King, P. Mirmirani, K. Lo Sicco, Y. Ramot, R. Sinclair, L. Asfour, K. Ezzedine, C. Paul, M. Ohyama, R. A. Edwards, G. Bonfanti, U. Kerkmann, D. Wajsbrot, R. Ishowo‐Adejumo, S. H. Zwillich, A. Lejeune   +15 more
wiley   +1 more source

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG)

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT The Houge type of X‐linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting ...
Mohammad‐Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben‐Mahmoud, Vijay Gupta, Lara G. Stühn, Gaetan Lesca, Nicolas Chatron, Konrad Platzer, Patrick Edery, Hossein Sadeghi, Bertrand Isidor, Benjamin Cogné, Heidi L. Schulz, Ilona Krauspe‐Stübecke, Radhakrishnan Periyasamy, Sheela Nampoothiri, Reza Mirfakhraie, Sahar Alijanpour, Steffen Syrbe, Ulrich Pfeifer, Stephanie Spranger, Kathrin Grundmann‐Hauser, Tobias B. Haack, Maria T. Papadopoulou, Tayrine da Silva Gonçalves, Eleni Panagiotakaki, Alexis Arzimanoglou, Seyed Hassan Tonekaboni, Massimiliano Rossi, G. Christoph Korenke, Yves Lacassie, Mi‐Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung‐Goo Kim   +34 more
wiley   +1 more source

Choroidal and retinal vascular changes in adults with Down syndrome: Insights into the Alzheimer's disease continuum

Alzheimer's &Dementia, Volume 21, Issue 5, May 2025.
Abstract INTRODUCTION Retinal and choroidal vascular changes have been proposed as a non‐invasive central nervous system (CNS) proxy for clinical trials in Alzheimer's disease (AD). However, their role in Down syndrome (DS), the largest genetically predisposed group for AD, remains unclear.
Jamie Mitchell, Adam Threlfall, Kenneth Sloan, Luke Smyth, Jessica Beresford‐Webb, Madeleine J. Walpert, Tunde Peto, Tom MacGillivray, Antony Holland, Imre Lengyel, Lajos Csincsik   +10 more
wiley   +1 more source

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) catalyze the formation of aminoacyl‐tRNA, which is required for protein translation. A growing number of cases are associated with ARS deficiencies. Pathogenic variants in IARS1 (MIM# 600709), encoding cytoplasmic isoleucyl‐tRNA synthetase, have been associated with autosomal recessive growth retardation ...
Parith Wongkittichote, Kira E. Jonatzke, Benjamin T. Hyde, Lance W. Peterson, Mai He, Robert C. McKinstry, Anthony Antonellis, Marwan Shinawi   +7 more
wiley   +1 more source

Hypothyroidism, eyelash loss [PDF]

Cleveland Clinic Journal of Medicine, 2020
Yu Suganami, Hiroki Matsuura
openaire   +2 more sources