• 한국임상수의학회지
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• 제25권6호
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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.

• 대한수의학회지
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• 제53권4호
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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.

• 대한기관식도과학회:학술대회논문집
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• 대한기관식도과학회 1978년도 제12차 학술대회연제 순서 및 초록
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• pp.8.1-8
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• 1978

Waardenburg 씨 증후군은 1951년에 Waardenburg가 처음으로 기술한 이래 Partington(1959), DiGeorge(1960)등에 의해 이 증후군에 대한 보고가 있었다. 선천성 난청의 l∼7%를 차지하는 본 증후군은 선천성 난청 외에 내안각의 측면전위, 백색증, 홍채이색증, 비근부의 편평 및 미모의 과도형성 등의 증상을 특징으로 한다. 본 증후군에서 청력장애는 출생후 서서히 나타날 수도 있고 청력장애의 정도 및 양상도 Fisch(1959)등의 보고에서 보듯이 다양하게 나타날 수 있다. 저자는 이 증후군의 3례를 체험하였기에 문헌적 고찰과 아울러 보고하는 바이다.

• 한국임상수의학회지
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• 제31권2호
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• pp.129-132
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• 2014

4년령의 암컷 보더 콜리가 청각장애 평가를 위해 내원하였다. 청력 소실의 원인을 확인하기 위해 임상 검사, 신경계 검사, 검이경, 자기 공명 검사법이 실시되었지만, 특별한 이상을 확인할 수 없었다. 청력 소실을 평가하기 위해 뇌간 청각유발전위 검사가 실시되었고, 양측성 감각신경성난청을 확인하였다. 여러 검사와 병력 확인을 통해 후천적 청력 소실의 가능한 원인들을 배제하여 유전성의 양측 후발성 감각신경성난청으로 잠정 진단하였다. 이 보고는 개에서도 사람에서 보고된 유전성의 후발성 감각신경성난청이 있을 수 있다는 것을 제안한다.

• Journal of Audiology & Otology
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• 제23권4호
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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.

• 대한청각학회지
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• 제23권4호
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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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• 제11권2호
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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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• 제23권1호
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• pp.72-76
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• 2016

골화석증은 골격의 경화증이 특징적으로 나타나는 드문 유전 질환으로 뼈 흡수 기전에 손상이 오며 조기 사망하는 질환이다. 반면 거대세포바이러스 감염은 가장 흔한 선천성 감염 중 하나로 빈혈, 혈소판 감소증과 간비장종대, 뇌 석회화 등이 나타날 수 있다. 심한 간비비대, 혈소판 감소증 및 저칼슘혈증과 발달지연으로 내원한 환자에서 두 가지 질환이 함께 있어 항바이러스제 치료 및 대증치료를 시행하였고, 치료 반응이 빠르게 나타나지는 않았으나 지속적인 치료 결과 대부분의 수치가 정상화 되는 것을 확인하였다. 본 증례는 골화석증 신생아에게 동반된 거대세포바이러스 감염의 첫 증례 보고로, 거대세포바이러스 감염에 대한 항바이러스제의 장기 치료로 호전된 사례이다.

• Journal of Genetic Medicine
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• 제16권1호
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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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• 제19권1호
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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.