Results 161 to 170 of about 88,327 (313)

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux   +4 more
wiley   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

open access: yesExperimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu   +5 more
wiley   +1 more source

Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series

open access: yesPediatric Blood &Cancer, Volume 72, Issue 8, August 2025.
ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala   +9 more
wiley   +1 more source

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

Model‐free machine learning‐based 3D single molecule localisation microscopy

open access: yesJournal of Microscopy, Volume 299, Issue 1, Page 77-87, July 2025.
Abstract Single molecule localisation microscopy (SMLM) can provide two‐dimensional super‐resolved image data from conventional fluorescence microscopes, while three dimensional (3D) SMLM usually involves a modification of the microscope, for example, to engineer a predictable axial variation in the point spread function.
Miguel A. Boland   +8 more
wiley   +1 more source

Tolerance to induced astigmatism of patients with trifocal or extended depth of focus intraocular lens implantation

open access: yesFrontiers in Medicine
BackgroundResidual astigmatism is common after cataract surgery involving implantation of an intraocular lens, yet the tolerance of presbyopia-correcting intraocular lens to astigmatism of different magnitudes and axes is poorly understood.
Jiancheng Mu   +6 more
doaj   +1 more source

Optimising non‐cycloplegic screening strategies for early detection of pre‐myopia and myopia in young children

open access: yesOphthalmic and Physiological Optics, Volume 45, Issue 5, Page 1080-1089, July 2025.
Abstract Purpose Early detection of myopia is essential to delay its onset and progression. Pre‐myopia, defined by an inadequate hyperopic reserve, increases myopia risk in childhood. However, effective screening methods remain limited. This study aimed to develop practical non‐cycloplegic screening methods for pre‐myopia and myopia in 6‐ to 7‐year ...
Síofra Harrington   +4 more
wiley   +1 more source

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