Cochlear reimplantation rate, causes, and outcomes: a multicenter study.

Objective: The current study aimed to evaluate cochlear reimplantation rate, causes, and audiological outcomes in a large group of patients in a multicenter study.

Methods: This retrospective study was conducted on patients with cochlear reimplantation surgeries between 2000 and 2022 in five academic referral centers. The rate and reasons for cochlear reimplantation surgeries were evaluated.

In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.

Superabsorbent Capped Truncated Silica Microcone Arrays: Fabrication and Extended Laplace Pressure and Gibbs Free Energy Study.

The ability of a surface to completely absorb a liquid droplet is an important property that can be controlled by geometrical structure and chemical composition of the surface. Here, using Laplace pressure and Gibbs free energy (GFE) considerations, a capped truncated microcone array geometry is proposed to obtain a near zero degree for contact angle (θ) of a water droplet. Our results showed that two essential conditions must be met to achieve a superabsorbent surface.

Adult Phenotype of -Associated Disorders.

Background And Objectives: Pathogenic variants are associated with neurodevelopmental disorders and developmental and epileptic encephalopathy. While pediatric phenotypes have been readily explored, adult phenotypes are not well understood. We aimed to investigate the phenotypic spectrum of adult patients with variants.