Results 101 to 110 of about 114,519 (260)

Squamous cell carcinoma of the external ear. [PDF]

open access: yesPan Afr Med J, 2023
Chen X, Qiu J.
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican 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   +6 more
wiley   +1 more source

Fungal flora in external ear canal in chronic otitis media

open access: yesمجله دانشگاه علوم پزشکی گرگان, 2014
Background and Objective: Fungal ear infection is common diseases in tropical areas with manifestation of acute and chronic clinical symptoms in external ear canal.
Ebrahimzadeh A, Mousavi M
doaj  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

A Large Vestibular Aqueduct With Conductive Hearing Loss as the Only Manifestation

open access: yesEar, Nose & Throat Journal
Conductive hearing loss is a common clinical condition caused by disorders of the middle and external ear. Here, we report a case of conductive hearing loss with complete tympanic membranes.
Na Yang BS, Bei-Bei Yang MD, PhD
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Reconstruction of the external ear using implant-supported alloplasts-Our experience. [PDF]

open access: yesNatl J Maxillofac Surg, 2023
Malick R, Sham ME, Reddy TJ, Jacob PC.
europepmc   +1 more source

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao   +9 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour   +5 more
wiley   +1 more source

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