Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2 ...
Jian Yue +55 more
wiley +1 more source
Acoustic schwannoma of traumatic origin? A temporal bone study [PDF]
A tumour of the singular nerve was found on examination of the temporal bones of a child who died 13 months after meningitis. The tumour consisted of a main mass with the appearance of an acoustic neuroma but close by and not connected were some nests of
Lesser, T. H. J., Pollak, A.
core
Effectiveness of the Epley’s maneuver performed in primary care to treat posterior canal benign paroxysmal positional vertigo: study protocol for a randomized controlled trial [PDF]
BACKGROUND: Vertigo is a common medical condition with a broad spectrum of diagnoses which requires an integrated approach to patients through a structured clinical interview and physical examination.
Alicia Capella Guillén +17 more
core +4 more sources
The Current Situation and Development of Endoscopic Ear Surgery in China
ABSTRACT Endoscopic ear surgery has been widely performed in China since 2015 due to the development and rapid popularization of endoscopic technology. Due to the relative shortness of the auditory meatus, only a fixed endoscope is required in many cases, rather than a motion similar to a nasal endoscope, and uncontrollable bleeding is virtually non ...
Meng‐Wen Shi, Ge Yin, Yu Sun
wiley +1 more source
Acute bilateral vestibulo-cochlear dysfunction following occipital fracture [PDF]
The case of a 57-year-old man who presented with acute bilateral deafness and vestibular dysfunction following occipital bone fracture is described.
Feneley, MR, Murthy, P
core +1 more source
Impact of Acute Versus Chronic Unilateral Hearing Loss on Head Movement in a Novel Binaural Task
Individuals with single‐sided deafness (SSD) may develop adaptive listening strategies with head movement patterns to optimize monaural localization and speech‐in‐noise understanding. Granular understanding of adaptive behaviors may better inform rehabilitation for SSD.
Madison V. Epperson +4 more
wiley +1 more source
Gradenigo’s Syndrome and Labyrinthitis: Conservative versus Surgical Treatment
Background. Extracranial intratemporal complications of chronic suppurative otitis media (CSOM) are extremely rare. Gradenigo’s syndrome is defined as a clinical triad of otitis media, severe pain originating from the trigeminal nerve, and ipsilateral ...
Ahmad Al-juboori, Amira Nasser Al Hail
doaj +1 more source
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen +3 more
wiley +1 more source
Cochlear turns measurements in patients with meningitis: A histopathological study
Objective To demonstrate the cochlear turns area changes among patients with a history of meningitis, through otopatologic study. Methods We performed an analysis of the area of the bony cochlear turns and the cochlear lumen of the horizontal sections ...
Henrique F. Pauna +3 more
doaj +1 more source
Use of Pirfenidone in Idiopathic Pulmonary Fibrosis: A Case Study [PDF]
Non ...
CERRI, Stefania +6 more
core +1 more source

