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Nishi-Tokyo-shi, Japan

Although children may dislike and/or resist oral and pharyngeal examination with a tongue depressor, they enjoy lollipops on sticks, eating with spoons, forks, and chopsticks, and brushing their teeth. Many reports have noted this apparent contradiction, since paediatric patients are often treated after toothbrushes or chopsticks penetrate the pharyngeal wall. We therefore developed a novel device to observe the inside of the mouth without using a flashlight, tongue depressor or head mirror. We previously developed the AWS for tracheal intubation through the mouth for anaesthesia and emergency situations, along with a new device to observe the inside of the oral cavity simultaneously. We have developed a new attachment to the AWS for observations inside the oral cavity and pharynx. Our newly developed oral and pharyngeal examination system is a useful tool for diagnostic examinations and may also enable treatment without causing discomfort or distress to patients and their families.

Tsunoda K.,National Institute of Sensory Organs
Nihon rinsho. Japanese journal of clinical medicine | Year: 2013

Miyake's disease (occult macular dystrophy: OMD) was first described by Miyake et al. to be a hereditary macular dystrophy without visible fundus abnormalities. Patients with OMD are characterized by a progressive decrease of visual acuity with normal appearing fundus and normal fluorescein angiograms. The important signs of OMD are normal full-field electroretinograms (ERGs) but abnormal focal macular ERGs. In 2010, we found that dominant mutations in the RP1L1 gene were responsible for OMD by a linkage analysis of two OMD families, and recently, the same mutations were known to cause OMD in non-Japanese patients. Here, we describe how this disorder has been discovered and the causative gene was found by Miyake's group, together with the detailed characteristics of OMD.

Jin Y.,University of Tokyo | Jin Y.,Yanbian University | Kondo K.,University of Tokyo | Ushio M.,University of Tokyo | And 5 more authors.
Cell and Tissue Research | Year: 2013

The way that the development of the inner ear innervation is regulated by various neurotrophic factors and/or their combinations at different postnatal developmental stages remains largely unclear. Moreover, survival and neuritogenesis in deafferented adult neurons is important for cochlear implant function. To address these issues, developmental changes in the responsiveness of postnatal rat spiral ganglion neurons (SGNs) to neurotrophin-3 (NT-3), brain-derived neurotrophic factor (BDNF) and leukemia inhibitory factor (LIF) were examined by using a dissociated cell culture system. SGNs at postnatal day (P) 0, P5 and P20 (young adult) were cultured with the addition of NT-3, BDNF, or LIF or of a combination of NT-3 and BDNF (N + B) or of NT-3, BDNF and LIF (ALL factors). SGNs were analyzed for three parameters: survival, longest neurite length (LNL) and neuronal morphology. At P0, SGNs required exposure to N + B or ALL factors for enhanced survival and the ALL factors combination showed a synergistic effect much greater than the sum of the individual factors. At P5, SGNs responded to a wider range of treatment conditions for enhanced survival and combinations showed only an additive improvement over individual factors. The survival percentage of untreated SGNs was highest at P20 but combinations of neurotrophic factors were no more effective than individual factors. LNL of each SGN was enhanced by LIF alone or ALL factors at P0 and P5 but was suppressed by NT-3, BDNF and N + B at P5 in a dose-dependent manner. The LNL at P20 was enhanced by ALL factors and suppressed by N + B. Treatment with ALL factors increased the proportion of SGNs that had two or more primary neurites in all age groups. These findings suggest that NT-3, BDNF, LIF and their combinations predominantly support different ontogenetic events at different developmental stages in the innervation of the inner ear. © 2012 Springer-Verlag Berlin Heidelberg.

Scholl H.P.N.,Wilmer Eye Institute | Birch D.G.,University of Texas Southwestern Medical Center | Iwata T.,National Institute of Sensory Organs | Miller N.R.,Wilmer Eye Institute | And 2 more authors.
Archives of Ophthalmology | Year: 2012

Objective: To characterize the phenotype of a white patient with occult macular dystrophy (OMD) and her clinically unaffected family members and to determine whether similar mutations were present in the RP1L1 gene in this family. Occult macular dystrophy is a rare macular dystrophy with central cone dysfunction hidden behind a normal fundus appearance that has been attributed to a mutation in the retinitis pigmentosa 1-like 1 (RP1L1) gene in 4 Japanese families. Methods: In this observational cross-sectional study of 1 white family with OMD, patients meeting the clinical criteria for OMD and their family members were evaluated by use of multifocal electroretinography, the Farnsworth D-15 color vision test, automated perimetry, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, and fundus photography. Fluorescein angiography was performed only on the proband. Members of this family were screened for genetic mutations in the RP1L1 gene. Results: In the family studied, the clinically affected proband was noted to have loss of the foveal outer segments and absence of bowing of the inner segment/outer segment junction on SD-OCT scans. In addition, 1 clinically unaffected family member also demonstrated loss of the foveal photoreceptor outer segments and, therefore, decreased bowing of the inner segment/outer segment junction on SD-OCT scans. The fundus autofluorescence images of the eyes of the proband and her family members were normal. Although mutations in the RP1L1 gene have been identified in sporadic and autosomal dominant OMD pedigrees, no mutations in the RP1L1 gene were found in any of the participants. Conclusions: Loss of the outer segments of foveal photoreceptors can be detected and quantified by use of SDOCT in patients with OMD. Similar findings are present in some clinically unaffected family members and may represent subclinical manifestations of the disease. Although mutations in the RP1L1 gene have been described in several Japanese families with OMD, there were no such mutations in this white family of European descent, which suggests that inherited OMD is a genetically heterogeneous disorder. ©2012 American Medical Association. All rights reserved.

Masuda T.,National Institute of Sensory Organs | Masuda T.,Nihon University | Kaga K.,National Institute of Sensory Organs
Acta Oto-Laryngologica | Year: 2014

Conclusions: When vestibular function is reduced in the rotational chair test in children with severe hearing loss, the vestibular function may be acquired later due to maturing vestibular sensory cells and vestibular nerve of the inner ear along with physical growth. Objectives: To examine the relationship between acquisition of motor function and vestibular function in children with bilateral severe hearing loss. Methods: A total of 97 children under 4 years old with hearing loss defined as a hearing threshold of both ears greater than 80 dB were included in this study. For evaluation of vestibular function, a damped-rotational chair test was performed and the horizontal nystagmus was recorded using electronystagmography (ENG). Results: Head control and independent walking were delayed in 28 of 97 children with severe hearing loss. Reduced response to the rotational chair test was observed in 16 of 97 children (16.5%), with 11 of these children having inner ear anomalies and reduced vestibular function. Of the 10 children who were followed up by the rotational chair test, 2 children with idiopathic congenital hearing loss without inner ear anomalies (100%) and 6 of 8 children with bilateral inner ear anomalies (75%) showed more obvious nystagmus during rotation compared with the initial examination. © 2014 Informa Healthcare.

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