Results 151 to 160 of about 74,735 (268)

Early‐Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2‐Related Phenotypic Spectrum

International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.
Our short communication establishes that the most severe, early‐onset presentation of ATP8A2 deficiency is a congenital encephalopathy hallmarked by prominent, nonprogressive hyperkinetic movement disorders. Moving beyond the historical CAMRQ4 ataxia classification is essential for the accurate diagnosis of this profound extrapyramidal phenotype ...
Fabio Bruschi, Clara E. Antonello, Cecilia Parazzini, Ylenia Vaia, Maria Iascone, Davide Tonduti   +5 more
wiley   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Malleostapedotomy in Patients With Stapes Fixation: A Systematic Review

The Laryngoscope, Volume 136, Issue 4, Page 1601-1613, April 2026.
This systematic review analyses the current evidence on malleostapedotomy as a primary or revision procedure in patients with stapes fixation. Twenty‐five studies comprising 632 operated ears were included. Malleostapedotomy proved to be a safe and effective alternative to incus‐anchoring stapedoplasty, with favorable hearing outcomes and a low ...
Matteo Alicandri‐Ciufelli, Edoardo D'Alessandro, Daniela Lucidi, Riccardo Nocini, Hui Davide Qiu   +4 more
wiley   +1 more source

New Impedance Field Telemetry Heat Map for Assessing Electrode Array in MED‐EL Cochlear Implants

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 2, April 2026.
ABSTRACT Objective To compare MED‐EL's new impedance field telemetry (IFT) heat map interface for confirmation of surgical placement of the electrode array to conventional imaging. Methods A retrospective study was completed on 35 patients who received MED‐EL cochlear implants between 2017 and 2024 for whom both IFT and radiologic data were available ...
Christine J. Colasacco, Samantha Morgan, Regina Albinus, Rivka Bornstein, Katrina R. Stidham   +4 more
wiley   +1 more source

Long‐Term Outcomes in Children With Congenital Cytomegalovirus Infection

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 2, April 2026.
ABSTRACT Objectives We aimed to evaluate the long‐term auditory outcomes of early antiviral therapy with valganciclovir (VGCV) in children with congenital cytomegalovirus (cCMV) infection, regardless of initial symptomatology. Methods This retrospective cohort study included 56 pediatric patients (112 ears) diagnosed with cCMV infection between 2004 ...
Noriko Morimoto, Noriomi Suzuki, Kanako Imamura, Tomohiro Saikawa, Naoto Miyoshi   +4 more
wiley   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Impact of contralateral sensorineural hearing loss on prognosis in idiopathic sudden sensorineural hearing loss. [PDF]

PLoS One
Xie S, Chen Z, Huang L, Hong Y, Lin C.
europepmc   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Deep Learning‐Based Inner Ear Subregion Segmentation in 3D T2‐Weighted MRI Using Label‐Preserving Data Augmentation

NMR in Biomedicine, Volume 39, Issue 4, April 2026.
A deep learning segmentation model was proposed for automated inner ear subregion segmentation using 3D T2‐weighted MRI. A transformer‐based model with label‐preserving data augmentation improves delineation of thin and complex structures such as the semicircular canals.
Wooseung Kim, Yeonah Kang, Seokhwan Lee, Ho‐Joon Lee, Yoonho Nam   +4 more
wiley   +1 more source

Interventions for the Diagnosis and Management of Otosclerosis: An Umbrella Review

Otolaryngology–Head and Neck Surgery, Volume 174, Issue 4, Page 904-915, April 2026.
Abstract Objective Perform an umbrella review (a systematic review of systematic reviews) to identify interventions for the prevention, diagnosis, and management of otosclerosis, to inform the development of the World Health Organization (WHO) Package of Ear and Hearing Care Interventions (PEHCI). Data Sources PubMed, Scopus, and Ovid MEDLINE databases
Isabelle J. Chau, Lauren R. McCray, Shaun A. Nguyen, Robert F. Labadie, Carolina Der, Lauren K. Dillard   +5 more
wiley   +1 more source