Results 31 to 40 of about 393 (152)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Posterior Semicircular Canal Plugging Relieves Tumarkin’s Crisis in Ménière’s Disease Patients

Audiology Research
(1) Background: Patients affected by Ménière’s disease can experience Tumarkin’s syndrome, which is characterized by postural instability, gait abnormalities, and, occasionally, an abrupt loss of balance known as vestibular drop attack or Tumarkin’s ...
Francesco Comacchio, Anna Bordin, Valerio Maria Di Pasquale Fiasca, Barbara Bellemo, Paola Magnavita, Elena Fasanaro, Elisabetta Poletto   +6 more
doaj   +1 more source

The braincase of Malawisaurus dixeyi (Sauropoda: Titanosauria): A 3D reconstruction of the brain endocast and inner ear.

PLoS ONE, 2019
A braincase of the Cretaceous titanosaurian sauropod Malawisaurus dixeyi, complete except for the olfactory region, was CT scanned and a 3D rendering of the endocast and inner ear was generated. Cranial nerves appear in the same configuration as in other
Kate A Andrzejewski, Michael J Polcyn, Dale A Winkler, Elizabeth Gomani Chindebvu, Louis L Jacobs   +4 more
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Posterior semicircular canal dehiscence: a diagnostic and surgical conundrum

BMJ Case Reports, 2019
Third window defects have increasingly been identified as a cause of vertigo. These defects are bony dehiscences that occur in the bony labyrinth, resulting in abnormal pressure gradient in the inner ear fluids leading to sound (Tullio’s phenomenon) or pressure (Hennebert’s sign) induced vertigo. The superior semicircular canal dehiscence syndrome is a
Ajay, Philip, Manju Deena, Mammen, Anjali, Lepcha, Anu, Alex   +3 more
openaire   +3 more sources

New techniques for old bones: Morphometric and diffeomorphometric analysis of the bony labyrinth of the Reilingen and Ehringsdorf Neandertals

The Anatomical Record, EarlyView.
Abstract Neandertals are known to possess very distinctive traits in their bony labyrinth morphology, such as an inferiorly positioned posterior canal and a very low number of turns in the cochlea. Hence, the inner ear has been often used to assess the Neandertal status of fragmentary fossils.
Alessandro Urciuoli, Julia Diez‐Valero, Ignacio Martínez, Rolf Quam, Brian A. Keeling, Nicole M. Webb, Mercedes Conde‐Valverde   +6 more
wiley   +1 more source

Atypical posterior canal benign paroxysmal positional vertigo mimicking anterior canal involvement: a case series and review of the literature

Journal of Medical Case Reports
Background Benign paroxysmal positional vertigo most commonly affects the posterior semicircular canal, producing upbeat–torsional nystagmus during positional testing.
Rinor Ajeti, Afrim Ajeti
doaj   +1 more source

The use of videonystagmography head impulse test (VHIT) in the diagnostics of semicircular canal injuries in patients with vertigo

International Journal of Occupational Medicine and Environmental Health, 2014
Objectives: The aim of the study was to assess the function of semicircular canal in videonystagmography head impulse test (VHIT) in the patients with vertigo and balance disorders.
Jarosław Miłoński, Piotr Pietkiewicz, Marzena Bielińska, Krzysztof Kuśmierczyk, Jurek Olszewski   +4 more
doaj   +1 more source

Cranial anatomy of a Late Cretaceous aspidorhynchid fish (Neopterygii: Aspidorhynchiformes) from Alberta, Canada

The Anatomical Record, EarlyView.
Abstract Belonostomus longirostrisis was named for an isolated jaw fragment from freshwater Upper Cretaceous (Campanian) sediments of the Dinosaur Park Formation of Alberta, Canada. Following the description of the Albertan species, numerous isolated cranial and postcranial elements have been collected from the Dinosaur Park Formation and assigned to B.
Mondo Miyazato, Luke E. Nelson, Joshua A. Doyon, Donald B. Brinkman, Alison M. Murray   +4 more
wiley   +1 more source