Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients with prelingual deafness (group 1), 39 Japanese patients with postlingual progressive sensorineural hearing loss (group 2), and 63 Japanese individuals with normal hearing (group 3). Three novel mutations were identified in group 1: a single nucleotide deletion (235delC), a 16-bp deletion (176-191 del (16)), and a nonsense mutation (Y136X) in five unrelated patients. The 235delC mutation was most frequently observed, accounting for seven alleles in 10 mutant alleles. Screening of 203 unrelated normal individuals for the three mutations indicated that the carrier frequency of the 235delC mutation was 2/203 in the Japanese population. No mutation was found in group-2 patients. We also identified two novel polymorphisms (E114G and I203T) as well as two previously reported polymorphisms (V27I andV37I). Genotyping with these four polymorphisms allowed normal Japanese alleles to be classified into seven haplotypes. All 235delC mutant alleles identified in four patients resided only on haplotype type 1. These findings indicate that GJB2 mutations are also responsible for prelingual deafness in Japan.
Objective Narrow‐band imaging (NBI) is considered useful for detecting respiratory papillomatosis. However, the choice between preoperative and intraoperative NBI depends on the facility. We investigated the usefulness of NBI and determined whether preoperative NBI can replace intraoperative NBI with a comparable detection rate. Methods In this retrospective cohort study conducted at single a tertiary care center, patients with respiratory papillomatosis treated between 2017 and 2022 were enrolled. We systematically compared preoperative white light imaging (WLI) with preoperative and intraoperative NBI. The primary endpoints were the papilloma detection rate and lesion site assessed by the Derkay scoring system. The secondary endpoints were the risk factors for increased Derkay scores. Results The study included 127 patients with papilloma. Intraoperative NBI yielded significantly higher Derkay scores than preoperative WLI ( p < 0.001) and preoperative NBI ( p = 0.004). The papilloma detection rates of preoperative WLI and preoperative NBI were not significantly different. Intraoperative NBI detected more lesions than preoperative NBI in 37 of 127 (29%) patients; the overall number of additional lesions was 47 of 279 (17%). Compared with preoperative NBI, intraoperative NBI yielded significantly higher scores for the vocal cords ( p = 0.005), false vocal cords ( p = 0.010), and ventricle of the larynx ( p < 0.001). Elevated Derkay scores were significantly associated with male sex ( p = 0.012) and alcohol consumption ( p = 0.007). Conclusion Intraoperative NBI is more accurate in detecting papillomatous lesions, and preoperative NBI cannot replace intraoperative NBI. Level of Evidence 4 Laryngoscope , 134:1820–1824, 2024
The feelings of dizziness and unsteadiness of the patients with fibromyalgia supposed specifically amplified by the hypersensitivity mechanism of CSS (central sensitivity syndrome) of them. The severity of subjective pain and physical distress according to the questionnaires were not correlated with the objective body sway on the stabilometer.Fibromyalgia manifests primarily as chronic pain of the entire body, but is also often associated with a variety of physical symptoms including dizziness and unsteadiness. This study assessed whether objective measures of body sway and unsteadiness of them are associated with their subjective dizziness findings.Subjects were 24 patients diagnosed with fibromyalgia, but one patient who had the past history of sudden deafness was excluded. The 23 patients were assessed by a stabilometer as the objective measures of body sway, and JFIQ (Japanese version of the fibromyalgia impact questionnaire), DHI (dizziness handicap inventory) and ABC (activities-specific balance confidence) as the subjective questionnaires.The significant correlations were shown between the scores of JFIQ and DHI, JFIQ and ABC, and DHI and ABC. Then, the body sway index of stabilometer environmental area was significantly correlated with DHI score. However, the stabilometer index was not correlated neither with JFIQ or ABC.
Objective: To investigate the background of hospitalized patients with vestibular neuritis over a ten-year period. Methods: A retrospective study was conducted in the medical records of patients with vestibular neuritis who were hospitalized in our hospital between January 2001 and December 2010. Results: Forty-nine patients with vertigo attacks were hospitalized during this period, with ages ranging from 22 to 82 years. The age distribution showed a peak at 60 years. The proportion of 65 years and older was 34.7%. There was no significant difference in the length of hospitalization between under 65 y.o. and 65-and-over patients. The high onset season was spring and summer but there were no significant differences. The duration of the spontaneous nystagmus, the symptoms of dizziness and of the bed rest were 5.5±2.2, 3.0±1.5 and 3.8±1.5 days respectively. The prevalence of diabetes mellitus and hypertension was 10.4% and 27.1%, respectively. Enhanced regions of the vestibular nerve were not detected in 16 cases among those who examined with gadolinium-enhanced MRI. Cases of preceding upper respiratory infection only accounted for 7 patients. Only 2 patients showed an increased level of CRP in the blood test at the time of admission. The duration of bed rest and hospitalization in the corticosteroids treatment group were shorter than in the nonsteroid treatment group. Conclusion: In this study, there was no trend associated with aging in hospitalized patients with vestibular neuritis. The number of cases of preceding upper respiratory infection was small. No enhanced regions were detected with Gd-enhanced MRI in all cases so examined. Our findings suggest that corticosteroids contribute less to symptomatic recovery of vestibular function in the acute phase of VN. It is useful to investigate the background of hospitalized patients in order to understand the pathology of vestibular neuritis.
Abstract Background Bow Hunter’s Syndrome (BHS) is known as one of cervical diseases which causes vertigo, but the details of its vertigo, especially nystagmus and eye movement, are still incompletely understood. This time, we reported the first case of BHS with a nystagmus chart with video record of transitional nystagmus. Case presentation The patient, a 47-year-old female, complained of vertigo caused by head rotation. When she turned her head leftward, leftward nystagmus appeared, and this was followed by dullness of the right arm. After her head was returned to the central position, downbeat nystagmus appeared, which changed to rightward nystagmus. She was diagnosed with BHS by her symptoms and images. We recorded a nystagmus video and nystagmus chart of this transitional nystagmus including downbeat nystagmus. Her vertigo was cured by the modification of a prescription for her past medical history: hypertension. Conclusion The vertigo of BHS accompanies nystagmus. In this present case, the transitional nystagmus was observed, and it occurred toward the healthy side. Then the nystagmus direction was changed to the affected side via downbeat nystagmus. This is the first report with both a nystagmus chart with video of BHS. Nowadays, various kinds of vertigo induced by neck movement are known. BHS is a rare disease among vertigo diseases, but we should consider it as a different diagnosis of vertigo patients. A precise interview and proper examination are required to make the final diagnosis.
Patulous eustachian tubes are associated with symptoms such as aural fullness, and voice and breath autophony, which are very distressing symptoms for patients. Many patients with a patulous eustachian tube are also reported as being mentally unstable. We conducted a questionnaire survey to clarify the psychological profiles of patients with patulous eustachian tubes, and report the results with a review of the literature. A total of 103 patients who visited our outpatient clinic were assessed by the Self-rating Depression Scale (SDS) and the State-Trait Anxiety Inventory (STAI). The median scores at the initial diagnosis were PHI10 26 (20–32), SDS 45 (39–55), STAI state anxiety 50 (43–57), and trait anxiety 48 (44–56). The Spearman's rank correlation coefficient for PHI10 and SDS was 0.457 (p value 0.00161), that for PHI10 and STAI state anxiety was 0.457 (p value 0.00143), and that for PHI10 and characteristic anxiety was 0.487 (p value 0.000608), all representing significant correlations. The PHI10 improved in 73.1% of the 26 patients who required follow-up visits after the treatment. On the other hand, there was no statistically significant difference in the change of the PHI10 between the group of patients with very severe depression and those with STAI characteristic anxiety on SDS. The subjective symptoms were significantly improved with lower SDS values. There have been several reports on the relationship between a patulous eustachian tube and anxiety and depressive tendencies. The present study suggests that patients with high levels of depression and trait anxiety may be resistant to treatment and may have difficulty in receiving the usual treatments, suggesting the need for considering the psychological aspects of the disease.
Objective: To investigate the factors that influence the hearing level in Meniere’s disease patients. Materials and methods: A retrospective study was conducted using the medical records of 60 patients with Meniere’s disease who were treated in our hospital between January 2004 and December 2015. Results: The study population was 35.0% male and 65.0% female. The average age of the patients was 50.5 (range 20–74) years old. The age distribution showed a peak at 40 years. The patients who were treated for more than 2000 days showed significantly increased hearing thresholds compared with those of the patients who were treated for less than 500 days. The patients with vertigo or dizziness showed significantly worsened hearing levels in comparison to those of the patients without these symptoms. Furthermore, the hearing level of the patients treated with a selective serotonin reuptake inhibitor (SSRI) or ventilation tubes worsened significantly more than that of the patients without these treatments. Conclusion: This study revealed that 1) long-standing disease, 2) vertigo or dizziness and 3) treatment with SSRIs or 4) ventilation tubes are important predictors of the hearing level of Meniere’s disease patients.
