Results 101 to 110 of about 85,140 (278)

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

open access: yesClinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman   +11 more
wiley   +1 more source

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

open access: yesClinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm   +24 more
wiley   +1 more source

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

open access: yesClinical Genetics, EarlyView.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix   +3 more
wiley   +1 more source

IMAGING ASPECTS OF NON-CHOLESTEATOMATOUS CHRONIC OTITIS AND INTRACEREBRAL COMPLICATIONS OF CHOLESTEATOMA IN PATIENTS HOSPITALIZED AND TREATED AT “PROF. N. OBLU” HOSPITAL IN IAȘI

open access: yesRomanian Journal of Medical and Dental Education
Intracranial infectious complications (such as abscess) are commonly seen in patients with maxillo-facial area infections/inflammation or temporal bone area (generally ear) infections/inflammation. Cholesteatoma is a mass of soft tissue within the middle
Ariadna Mocrei   +6 more
doaj  

The Usefulness of ETDQ‐7 Score in Assessing ETD

open access: yesClinical Otolaryngology, EarlyView.
ABSTRACT Introduction The ETDQ‐7 questionnaire has been validated for diagnosing Eustachian tube dysfunction (ETD) and a minimal clinically important difference (MCID) of > 3.5 has been suggested. We aim to assess the use of ETDQ‐7 for assessing ETD and a potential correlation between ETDQ‐7 and the Sino‐Nasal Outcome Test 22 (SNOT‐22). Methods ETD was
Niels Højvang Holm, Therese Ovesen
wiley   +1 more source

Adverse Effects of Steroid Therapy in Sudden Sensorineural Hearing Loss: A Scoping Review

open access: yesClinical Otolaryngology, EarlyView.
ABSTRACT Objective Sudden sensorineural hearing loss (SSNHL) is an otologic emergency and is treated with steroid therapy. Despite adverse events (AEs) associated with long‐term steroid use being well evidenced, there is sparsity of literature regarding the AEs of short‐course prescriptions in the SSNHL cohort, which limits the quality of patient ...
M. Achanta   +5 more
wiley   +1 more source

Anaesthetic Complications in Dogs Undergoing Total Ear Canal Ablation and Ventral Bulla Osteotomy: A Single-Centre Retrospective Study

open access: yesAnimals
Canine otitis, a prevalent and often recurrent condition in small animal veterinary medicine, can lead to severe and chronic ear disease, necessitating surgical intervention when medical management fails.
Anna Maria Szewczyk   +2 more
doaj   +1 more source

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