Ear and Nose Abnormalities in Meningoencephalitis Associated With Relapsing Polychondritis: A Case Report. [PDF]
Taguchi T +4 more
europepmc +1 more source
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Effects of mining disasters on hospital morbidity in the populations of Mariana and Brumadinho, Minas Gerais, Brazil. [PDF]
Vidal EP, da Silva RCC, Zucchi P.
europepmc +1 more source
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley +6 more
wiley +1 more source
Congenital Anomalies of the Nose: From Embryologic to Surgical Treatment. [PDF]
Deftereou TE +5 more
europepmc +1 more source
PSHead: 3D Head Reconstruction from a Single Image with Diffusion Prior and Self‐Enhancement
We introduce PSHead, a coarse‐to‐fine framework guided by both object and face priors, to produce a Gaussian‐based 3D avatar for a single frontal‐view reference image. In the coarse stage, we create an initial 3D representation by applying diffusion models trained for general object generation, using Score Distillation Sampling losses over novel views.
Jing Yang +4 more
wiley +1 more source
ABSTRACT Objectives To examine trends and outcomes for paediatric adenoidectomies in NHS England between 2008 and 2024. Design Retrospective observational cohort study using Hospital Episode Statistics. Setting NHS trusts in England. Participants Children (≤ 16 years) undergoing adenoidectomy.
Angus Lawson +7 more
wiley +1 more source
Chronic otitis media with effusion in children with adenoidal hypertrophy: Development of a diagnostic prediction model. [PDF]
Wu Y +5 more
europepmc +1 more source
Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava +9 more
wiley +1 more source
Esthetic and reconstructive options for earlobe deformities. [PDF]
Wollina U +3 more
europepmc +1 more source

