Results 101 to 110 of about 348,843 (344)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Early synapsids neurosensory diversity revealed by CT and synchrotron scanning

The Anatomical Record, EarlyView.
Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit, R. Araujo, E. S. Lund, A. Bolton, T. Lafferty, Z. Macungo, V. Fernandez   +6 more
wiley   +1 more source

Epidemiology of Vestibular Impairments in a Pediatric Population

Seminars in Hearing, 2018
The purpose of this study was to report the prevalence of vestibular impairment (VI) in children (n = 2,528) referred for complete vestibular testing because of balance disorders (BD) or hearing loss (H). A VI was shown in 51.5% of the children tested (1,
S. Wiener-Vacher, Juliette Quarez, A. L. Priol   +2 more
semanticscholar   +1 more source

Predicting ecology and hearing sensitivities in Parapontoporia—An extinct long‐snouted dolphin

The Anatomical Record, EarlyView.
Abstract Analyses of the cetacean (whale and dolphin) inner ear provide glimpses into the ecology and evolution of extinct and extant groups. The paleoecology of the long‐snouted odontocete (toothed whale) group, Parapontoporia, is primarily marine with its depositional context also suggesting freshwater tolerance.
Joyce Sanks, Rachel Racicot
wiley   +1 more source

The blood labyrinthine barrier in the human normal and Meniere's disease macula utricle. [PDF]

, 2017
The ultrastructural organization of the blood labyrinthine barrier (BLB) was investigated in the human vestibular endorgan, the utricular macula, using postmortem specimens from individuals with documented normal auditory and vestibular function and ...
Ishiyama, Akira, Ishiyama, Gail, Ishiyama, Paul, Lopez, Ivan A, Vinters, Harry V   +4 more
core   +2 more sources

Vestibular Functions and Parkinson's Disease

Frontiers in Neurology, 2018
For decades it has been speculated that Parkinson's Disease (PD) is associated with dysfunction of the vestibular system, especially given that postural instability is one of the major symptoms of the disorder.
Paul F. Smith
semanticscholar   +1 more source

Development of the occipitopetrosal junctions: A histological study using human fetuses

The Anatomical Record, EarlyView.
Abstract The temporal bone petrosa is connected to the occipital bone at two sites: one junction with the basilar part (medial junction) and another with the lateral part (lateral junction). Using histological specimens from 45 human fetuses (approximately 7–39 weeks of gestational age or GA), we aimed to describe possible changes in histology and ...
Ai Hirano‐Kawamoto, Yohei Honkura, Chun‐Ai Li, Samuel Verdugo‐López, Gen Murakami, Jose Francisco Rodríguez‐Vázquez, Yukio Katori   +6 more
wiley   +1 more source

Periodontitis presenting among betel quid users: A case series

Clinical Advances in Periodontics, EarlyView.
Abstract Background Betel leaf chewing habit has been studied extensively, as it has been an ancient practice in many Asian countries. Although betel leaf has been reported to have potential beneficial properties, it has also been shown to have a strong association with oral diseases, including periodontitis. This case series addresses the presentation
Jungweon V. Park, Priyanka K. Pitchumani, Dimitris N. Tatakis   +2 more
wiley   +1 more source

Milestones in the development of a vestibular implant

Current Opinion in Neurology, 2018
Purpose of review Bilateral vestibular deficits exist and their prevalence is more important than believed by the medical community. Their severe impact has inspired several teams to develop technical solutions in an attempt to rehabilitate patients.
J. Guyot, A. Pérez Fornos
semanticscholar   +1 more source