Results 21 to 30 of about 12,342 (122)

Myeloid neoplasm inspired intensive therapy in VEXAS syndrome: A single‐centre experience

British Journal of Haematology, EarlyView.
Summary There is still no standard of care and unmet medical needs in refractory/advanced VEXAS (vacuoles in myeloid progenitors, E1 ubiquitin activating enzyme, X‐linked, autoinflammatory manifestations and somatic) syndrome with or without associated haematological neoplasm.
Maël Heiblig, Adriana Plesa, Juliet Tantot, Yvan Jamilloux, Hélène Labussière‐Wallet, Pierre Sujobert   +5 more
wiley   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source

Reading Difficulty of Online Patient Education Materials for Procedures in Dermatology

JEADV Clinical Practice, EarlyView.
Elizabeth Botto, Nicole Natarelli, Emily Coughlin, Lilia Correa‐Selm   +3 more
wiley   +1 more source

Subvisible microscale texture is present on the crista cutis of the skin and interacts with incident light to create a soft and radiant ‘shitsukan’ appearance

International Journal of Cosmetic Science, EarlyView.
Subvisible microscale texture on the skin’s surface is not visible to the naked eye. However, this structure plays a crucial role in regulating the optical properties of the skin’s surface contributing to skin appearances by making the skin appear softer, more radiant, and smoother.
Tatsuya Omotezako, MyriamRubecca Rodrigues, Neo Eleanor, Yu Wang, Georgina Wee, Berwyn Chong, Akira Matsubara   +6 more
wiley   +1 more source

The Spectrum of Epidermolysis Bullosa in KwaZulu‐Natal, South Africa

International Journal of Dermatology, EarlyView.
ABSTRACT Background Epidermolysis bullosa (EB) is a rare, heterogeneous genodermatosis characterized by skin fragility due to inherited defects in genes encoding proteins that maintain epidermal–dermal integrity. The severity and complications of EB vary by subtype, and no cure currently exists. The epidemiology is unknown in South Africa. Methods This
Antoinette Chateau, Thirona Naicker, Cassandra Bruce‐Brand, Johann Schneider, Colleen Aldous, Ncoza Dlova, Hui‐Ching Cheng, Pei‐Chi Lin, Hsin‐Yu Huang, Chao‐Kai Hsu, John A. McGrath   +10 more
wiley   +1 more source

Wound, pressure ulcer, and burn guidelines (2023)―4: Guidelines for the management of connective tissue disease/vasculitis‐associated skin ulcers, third edition

The Journal of Dermatology, EarlyView.
Yoshihide Asano, Jun Asai, Takayuki Ishii, Yohei Iwata, Masanari Kodera, Chie Miyabe, Akihiko Uchiyama, Youichi Ogawa, Ken Okamura, Mari Kishibe, Yuta Koike, Yorihisa Kotobuki, Noriki Fujimoto, Takuya Miyagi, Yukie Yamaguchi, Ayumi Yoshizaki, Reiko Omori, Takeshi Nakanishi, Hiroshi Fujiwara, Takeo Maekawa, Sei‐ichiro Motegi, Yuichiro Yoshino, Minoru Hasegawa, Manabu Fujimoto, Takao Tachibana, Wound, Pressure Ulcer, and Burn Guidelines Drafting Committee (connective tissue disease/vasculitis group)   +27 more
wiley   +1 more source

Quantitative susceptibility mapping of the human carotid artery: Assessing sensitivity to elastin and collagen ex vivo

Magnetic Resonance in Medicine, Volume 94, Issue 2, Page 771-784, August 2025.
Abstract Purpose The aim is to establish the relationship between carotid susceptibility and microstructural components in diseased carotid arteries. Methods Excised cadaveric carotid arteries (n = 5) were scanned using high‐resolution QSM at 7 Tesla. After ex vivo imaging, all samples were brought to histology and stained for elastin, collagen, cells,
Alan J. Stone, Brooke Tornifoglio, Francesco Digeronimo, Karin Shmueli, Caitríona Lally   +4 more
wiley   +1 more source

Venetoclax Alone or in Combination With Chemotherapy in Paediatric and Adolescent/Young Adult Patients With Relapsed/Refractory Acute Myeloid Leukaemia

Pediatric Blood &Cancer, Volume 72, Issue 7, July 2025.
ABSTRACT Background Venetoclax is a potent, oral BCL‐2 inhibitor approved as combination therapy for the treatment of adults with newly diagnosed acute myeloid leukaemia (AML) who are ineligible for intensive chemotherapy. This study evaluated the safety and preliminary efficacy of venetoclax alone or combined with chemotherapy in paediatric and ...
Seth E. Karol, Seong L. Khaw, C. Michel Zwaan, Andre Baruchel, Henrique Bittencourt, Todd M. Cooper, Christian Flotho, Christopher Fraser, Christopher J. Forlenza, Kelly C. Goldsmith, Margaret E. Macy, Daniel A. Morgenstern, Maureen M. O'Brien, Arnaud Petit, David S. Ziegler, Dirk Reinhardt, Joseph T. Opferman, Jeffrey E. Rubnitz, Maika Onishi, Diana R. Dunshee, Fengjiao Dunbar, Deeksha Vishwamitra, Jeremy A. Ross, Xin Chen, Kristina Unnebrink, Maja Kammerlander, Ahmed Hamed Salem, Tammy L. Palenski, Gauri Sunkersett, Andrew E. Place   +29 more
wiley   +1 more source

Giant Bladder Diverticulum in A Female Infant Mimicking Intraperitoneal Mass

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Urinary bladder diverticula can be either primary (congenital) or secondary (acquired) and are more commonly observed in males, sometimes in association with syndromes. The condition presents with a wide range of symptoms, while some cases may remain asymptomatic.
Jay Lodhia, Mujaheed Suleman, Samwel Chugulu, Kondo Chilonga, David Msuya   +4 more
wiley   +1 more source

Calcinosis cutis of the lower legs – hyperphosphatemic familial tumoral calcinosis in a patient with GALNT3 mutation

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
David Ranzinger, Tobias Schaefer, Franziska Schauer, Kilian Eyerich, Anna Caroline Pilz   +4 more
wiley   +1 more source