Results 131 to 140 of about 204,571 (299)

Manual of diseases of the ear, nose and throat,

, 1906
Mode of access ...
Kyle, John Johnson, b. 1869., Stanton A. Friedberg, M.D. Rare Book Collection of Rush University Medical Center at the University of Chicago ICU.   +1 more
core  

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

An Assistive Role of a Machine Learning Network in Diagnosis of Middle Ear Diseases. [PDF]

J Clin Med, 2021
Byun H, Yu S, Oh J, Bae J, Yoon MS, Lee SH, Chung JH, Kim TH.   +7 more
europepmc   +1 more source

COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases.

, 2001
OBJECTIVE: This study was designed to identify the 58-kDa inner ear protein against which the sera of some patients with idiopathic, progressive sensorineural hearing loss or Ménière's disease strongly react.
Tomasi, JP., Boulassel, M R, Deggouj, Naima, Gersdorff, Michel   +3 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Color Dependence Analysis in a CNN-Based Computer-Aided Diagnosis System for Middle and External Ear Diseases. [PDF]

Diagnostics (Basel), 2022
Viscaino M, Talamilla M, Maass JC, Henríquez P, Délano PH, Auat Cheein C, Auat Cheein F.   +6 more
europepmc   +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

A Study of Middle Ear Diseases in Children with Congenital Bilateral Severe to Profound Sensorineural Hearing Loss. [PDF]

Indian J Otolaryngol Head Neck Surg, 2022
Dhingani G, Jadav B.
europepmc   +1 more source

A profile of the auditory function of children with TB receiving ototoxic medication at Brooklyn Chest Hospital

, 2012
Includes abstract.Includes bibliographical references.A descriptive survey research design was used to describe the auditory function of children with tuberculosis (TB) receiving ototoxic medication at Brooklyn Chest Hospital.
Ghafari, Nazanin
core  

Single origin of the epithelium of the human middle ear

, 2019
Objective: The epithelium lining the human middle ear and adjacent temporal bone cavity shows a varying morphological appearance throughout these cavities. Its embryologic origin has long been debated and recently got attention in a newly proposed theory
Oostra, Roelof-Jan, van Waegeningh, Huibert F., van Spronsen, Erik, Ebbens, Fenna A.   +3 more
core   +1 more source