Investigation of endolymphatic hydrops positivity rates in patients with recurrent audiovestibular symptoms using inner ear magnetic resonance imaging.

OBJECTIVES: This study aimed to investigate the endolymphatic hydrops (EH)-positivity rates among patients with recurrent audiovestibular symptoms using intravenous injection of gadolinium-enhanced inner ear magnetic resonance imaging (ieMRI). METHODS: We reviewed 710 successive patients with recurrent audiovestibular symptoms at the Vertigo/Dizziness Center of Nara Medical University and other related hospitals, between May 2014 and April 2020. We performed ieMRI on 153 patients with unilateral recurrent cochleovestibular symptoms (rCV), 51 with recurrent vertigo symptoms (rVO), and 84 with unilateral recurrent cochlear symptoms (rCO). RESULTS: EH was observed in 69.4% of the participants: 81.7% in the rCV group, 19.6% in the rVO group, and 77.4% in the rCO group. The participants were divided into two groups according to the disease duration: short-duration and long-duration groups. In the short-duration group (less than 4 years), EH was observed in 82.3%, 42.9%, and 71.4% of the patients in rCV, rVO, and rCO groups, respectively; in the long-duration group (more than 5 years), EH was observed in 81.1%, 10.8%, and 81.6% of the patients in rCV, rVO, and rCO groups, respectively. CONCLUSIONS: The longer the duration of the disease, the larger the EH-positivity rates in patients with rCO, smaller in those with rVO, and unchanged in those with rCV. Although ieMRI could not detect EH with 100% accuracy in Ménière's disease, the present pathological statistics of patients with recurrent audiovestibular symptoms might be helpful in considering the pathology-based treatment strategy.

Comprehensive analysis of syndromic hearing loss patients in Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.