Results 291 to 300 of about 2,685,283 (406)

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

Ventilation Pathways of Middle Ear and Mastoid in Patients Undergoing Endoscopic Tympanoplasty at a Tertiary Care Center in Uttarakhand: An Observational Study. [PDF]

Cureus
Raza MM, Pant B, Sharma N, Ahmed S.
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Extensive deep neck abscess caused by middle ear cholesteatoma complicating Proteus vulgaris infection: A case report and literature review. [PDF]

Medicine (Baltimore)
Jin M, Zhu Z, Zhou P, Liu S.
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Effect of Middle Ear Prosthesis Diameter in Platinotomy and Partial Platinectomy on Hearing Gain: A Finite Element Study. [PDF]

Materials (Basel)
Ceddia M, Quaranta N, Pontillo V, Murri A, Pantaleo A, Trentadue B.   +5 more
europepmc   +1 more source

Meeting the Needs of Aboriginal and Torres Strait Islander People With Hearing Loss in the Context of the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack, Jody Barney, Marie Huska, Damien Howard, Alexandra Devine   +4 more
wiley   +1 more source

Middle Ear Disorders in Children with Down Syndrome: The Detrimental Effect on Speech and Language Development. [PDF]

Children (Basel)
Tenenbaum A, Yaakov AB, Peled Y, Cohen-Cymberknoh M, Averbuch D, Brodie R, Gross M.   +6 more
europepmc   +1 more source

Do Skin Prick Tests Predict Nasal Provocation Test Outcomes in Allergic Rhinitis Patients?

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background In diagnosing allergic rhinitis (AR), conventional skin prick tests (SPTs) often fail to reflect allergen‐induced nasal symptoms. Conversely, nasal provocation tests (NPTs) provide more definitive assessments but are less accessible.
Yunhyung Lee, Gyu Tae Kim, Seo Jun Kang, Marn Joon Park   +3 more
wiley   +1 more source

Life-threatening pneumocephalus from middle ear defect causing cerebrospinal fluid leakage into the eustachian tube: illustrative case. [PDF]

J Neurosurg Case Lessons
Mattheisen H, Peterson A, Laing B, Zwagerman NT, Harris MS, Cheok S.   +5 more
europepmc   +1 more source