• Journal of Veterinary Clinics
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• v.25 no.6
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• pp.506-509
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• 2008

A 2-month-old, intact female white Bull Terrier presented because of suspected deafness. The coat color was predominantly white and the iris color, of both eyes, was brown. The dog did not respond to the owner's voice when the sound stimuli were presented outside of the visual field; however, the dog responded to visual gestures. The other physical, neurological, otoscopic, radiographic, and blood examinations were unremarkable. To assess the apparent deafness, brainstem auditory evoked responses (BAER) were recorded and analyzed in the dog with suspected deafness as well as a normal littermate. The response in the normal littermate consisted of a series of five wave peaks (I-V) with decreased amplitude and prolonged latency as the stimulus intensity decreased. The BAER from the dog suspected of deafness appeared as a flat line and did not reveal identifiable peaks that corresponded to those found in the normal littermate. Thus, congenital, sensorineural and bilateral deafness was confirmed by the BAER.

• Korean Journal of Veterinary Research
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• v.53 no.4
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• pp.265-267
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• 2013

A 3-month-old, intact male French bulldog was suspected of deafness. The dog was irresponsive to environmental noises generated out of sight, but normal responses were noted for visual stimuli. No abnormalities were observed on the neurological, otoscopic, radiographic, and blood examinations. To diagnose the apparent deafness, brainstem auditory evoked potential (BAEP) was recorded in the presented dog together with a normal dog. While the BAEP from the control dog showed a normal wave consisting of 5 peaks, absence of all peaks was noted in the suspected deaf dog. Therefore the dog was definitively diagnosed as bilaterally congenital sensorineural deafness.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1978.06a
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• pp.8.1-8
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• 1978

Waardenburgs syndrome is estimated to account for 1 to 7% of all congenital deafness. The primary features of the syndrome include lateral displacement of the medial canthi and lacrimal punctae, a flat nasal root, white forelock, unilateral or bilateral congenital deafness, some degree of heterochromia of the iris, and hyperplasia of the eyebrow. This syndrome was described at first by Waardenburg in 1951, and since that time there have been reports of the same syndrome in both the English (Partington, 1959) and American (Di George) literature. The authors have experienced 3 cases of Waardenburgs syndrom, and report these cases with literature review.

• Journal of Veterinary Clinics
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• v.31 no.2
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• pp.129-132
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• 2014

A 4-year-old, intact female Border Collie was presented for evaluation of hearing impairment. Clinical, neurological, otoscopic and magnetic resonance imaging examinations were carried out to determine the cause of hearing loss, but no remarkable change was found. Then, brainstem auditory-evoked response test was performed to assess hearing loss, and the dog had a bilateral sensorineural deafness was revealed. Since possible causes of acquired hearing loss were ruled out by several examinations and history taking, bilateral later-onset deafness was suspected to be genetic and not congenital. This report suggested the possibility that dogs had inherited later-onset sensorineural deafness.

• Journal of Audiology & Otology
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• v.23 no.4
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• pp.197-203
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• 2019

Background and Objectives: Many studies have reported no benefit of sound localization, but improved speech understanding in noise after treating patients with single-sided deafness (SSD). Furthermore, their performances provided a large individual difference. The present study aimed to measure the ability of speech perception and gap detection in noise for the SSD patients to better understand their hearing nature. Subjects and Methods: Nine SSD patients with different onset and period of hearing deprivation and 20 young adults with normal hearing and simulated conductive hearing loss as the control groups conducted speech perception in noise (SPIN) and Gap-In-Noise (GIN) tests. The SPIN test asked how many presented sentences were understood at the +5 and -5 dB signal-to-noise ratio. The GIN test was asked to find the shortest gap in white noise with different lengths in the gap. Results: Compared to the groups with normal hearing and simulated instant hearing loss, the SSD group showed much poor performance in both SPIN and GIN tests while supporting central auditory plasticity of the SSD patients. Rather than a longer period of deafness, the large individual variance indicated that the congenital SSD patients showed better performance than the acquired SSD patients in two measurements. Conclusions: The results suggested that comprehensive assessments should be implemented before any treatment of the SSD patient considering their onset time and etiology, although these findings need to be generalized with a large sample size.

• Korean Journal of Audiology
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• v.23 no.4
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• pp.197-203
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• 2019

Background and Objectives: Many studies have reported no benefit of sound localization, but improved speech understanding in noise after treating patients with single-sided deafness (SSD). Furthermore, their performances provided a large individual difference. The present study aimed to measure the ability of speech perception and gap detection in noise for the SSD patients to better understand their hearing nature. Subjects and Methods: Nine SSD patients with different onset and period of hearing deprivation and 20 young adults with normal hearing and simulated conductive hearing loss as the control groups conducted speech perception in noise (SPIN) and Gap-In-Noise (GIN) tests. The SPIN test asked how many presented sentences were understood at the +5 and -5 dB signal-to-noise ratio. The GIN test was asked to find the shortest gap in white noise with different lengths in the gap. Results: Compared to the groups with normal hearing and simulated instant hearing loss, the SSD group showed much poor performance in both SPIN and GIN tests while supporting central auditory plasticity of the SSD patients. Rather than a longer period of deafness, the large individual variance indicated that the congenital SSD patients showed better performance than the acquired SSD patients in two measurements. Conclusions: The results suggested that comprehensive assessments should be implemented before any treatment of the SSD patient considering their onset time and etiology, although these findings need to be generalized with a large sample size.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.63-68
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• 2014

Purpose: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal recessive nonsyndromic hearing loss associated with enlarged vestibular aqueduct and Pendred syndrome. Although most studies of SLC26A4 mutations have dealt with hearing-impaired patients, there are a few reports on the frequency of these mutations in the general population. The purpose of this study was to evaluate the prevalence of SLC26A4 mutations that cause inherited deafness in the general Korean population. Materials and Methods: We obtained blood samples from 144 Korean individuals with normal hearing. The samples were subjected to polymerase chain reaction to amplify the entire coding region of the SLC26A4 gene, followed by direct DNA sequencing. Results: Sequencing analysis of this gene identified 5 different variants (c.147C>G, c.225G>C, c.1723A>G, c.2168A>G, and c.2283A>G). The pathogenic mutation c.2168A>G (p.H723R) was identified in 1.39% (2/144) of the subjects with normal hearing. Conclusion: These data provide information about carrier frequency for SLC26A4 mutation-associated hearing loss and have important implications for genetic diagnostic testing for inherited deafness in the Korean population.

• Pediatric Infection and Vaccine
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• v.23 no.1
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• pp.72-76
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• 2016

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.1-9
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• 2019

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.

• Investigative Magnetic Resonance Imaging
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• v.19 no.1
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• pp.1-9
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• 2015

Purpose: Several morphometric studies have been performed to investigate brain abnormalities in congenitally deaf people. But no report exists concerning structural brain abnormalities in congenitally deaf adolescents. We evaluated the regional volume changes in gray matter (GM) using voxel-based morphometry (VBM) in congenitally deaf adolescents. Materials and Methods: A VBM8 methodology was applied to the T1-weighted magnetic resonance imaging (MRI) scans of eight congenitally deaf adolescents (mean age, 15.6 years) and nine adolescents with normal hearing. All MRI scans were normalized to a template and then segmented, modulated, and smoothed. Smoothed GM data were tested statistically using analysis of covariance (controlled for age, gender, and intracranial cavity volume). Results: The mean values of age, gender, total volumes of GM, and total intracranial volume did not differ between the two groups. In the auditory centers, the left anterior Heschl's gyrus and both inferior colliculi showed decreased regional GM volume in the congenitally deaf adolescents. The GM volumes of the lingual gyri, nuclei accumbens, and left posterior thalamic reticular nucleus in the midbrain were also decreased. Conclusions: The results of the present study suggest that early deprivation of auditory stimulation in congenitally deaf adolescents might have caused significant underdevelopment of the auditory cortex (left Heschl's gyrus), subcortical auditory structures (inferior colliculi), auditory gain controllers (nucleus accumbens and thalamic reticular nucleus), and multisensory integration areas (inferior colliculi and lingual gyri). These defects might be related to the absence of general auditory perception, the auditory gating system of thalamocortical transmission, and failure in the maturation of the auditory-to-limbic connection and the auditorysomatosensory-visual interconnection.