Results 71 to 80 of about 344,405 (242)

Mechanical treatment and autoclaving of middle ear ossicles from cholesteatomatous ears

, 2012
Aim of the study: The authors present a prospective histomorphological study of middle ear ossicles, harvested from cholesteatomous ears, to evaluate for presence of residual cholesteatoma after mechanical treatment and short-time autoclaving.Materials ...
L. Školoudík, J. Vokurka, E. Šimáková   +2 more
semanticscholar   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Middle ear anatomy and implant sizes: correlates and the need for uniform implant dimensions

Frontiers in Audiology and Otology
IntroductionConductive hearing loss describes an insufficient sound transfer of the middle ear, often caused by defects or absence of the ossicles. Depending on the specific middle ear dimensions and the kind of defect, surgeons can choose from a variety
Thomas Lenarz, Moritz Becker, Athanasia Warnecke, Anja Giesemann, Nils Kristian Prenzler, Uwe Steinhardt, Daniel Schurzig, Daniel Schurzig   +7 more
doaj   +1 more source

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

The human middle ear in motion: 3D visualization and quantification using dynamic synchrotron-based X-ray imaging

Communications Biology
The characterization of the vibrations of the middle ear ossicles during sound transmission is a focal point in clinical research. However, the small size of the structures, their micrometer-scale movement, and the deep-seated position of the middle ear ...
Margaux Schmeltz, Aleksandra Ivanovic, Christian M. Schlepütz, Wilhelm Wimmer, Aaron K. Remenschneider, Marco Caversaccio, Marco Stampanoni, Lukas Anschuetz, Anne Bonnin   +8 more
doaj   +1 more source

THREE-DIMENSIONAL CT OF THE OSSICLES OF THE MIDDLE EAR

Nippon Jibiinkoka Gakkai Kaiho, 1995
This study was performed to evaluate the usefulness and limitations of three-dimensional (3-D) imaging of the ossicular chain in the middle ear by high speed helical CT. One dissected human temporal bone, five normal ears, and twelve diseased ears (trauma, ossicular anomaly, cholesteatoma, chronic otitis media) were scanned in 1.0mm slices and ...
H, Edamatsu, K, Yamashita
openaire   +3 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A brief note on the human visceral skeleton - An evolutionary perspective

Bulletins et Mémoires de la Société d’Anthropologie de Paris, 2009
A review of the visceral skeleton whose origin is in the branchial arches is reported here. It refers to bones, muscles and ligaments of relevant anatomical areas (ear ossicles, basicranium and mandible).
Baruch Arensburg, Victor Belkin, Anne-Marie Tillier   +2 more
doaj   +1 more source