• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.34 no.3
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• pp.92-101
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• 2021

Objectives : Otomycosis is superficial fungal infection of external auditory canal accompanied with itching, pain, discharge, hearing loss, tinnitus and ear fullness. And chronic inflammation like chronic suppurative otitis media exacerbates otomycosis. The purpose of this study is to report one case of Korean medical treatment for otomycosis with chronic suppurative otitis media. Methods : This study was conducted with one case of otomycosis with chronic suppurative otitis media patient hospitalized in Ophthalmology, Otolaryngology & Dermatology Clinic of Korean medical Hospital. This patient was treated with Korean medical treatment including herbal medicine, acupuncture, pharmacopuncture and venesection. After the treatment, we took picture of external auditory canal by otoscope and evaluated subjective symptoms. Results : After the treatment, this patient had improved condition of external auditory canal and subjective symptoms. Conclusions : This study suggests that Korean medical treatment may be effective for otomycosis with chronic suppurative otitis media.

• Pediatric Infection and Vaccine
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• v.25 no.3
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• pp.113-122
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• 2018

Purpose: The aim of this study was to evaluate the clinical characteristics of children diagnosed as cryopyrin-associated periodic syndrome (CAPS) in Korea. Methods: Diagnosis was made based on clinical features and confirmed by a mutation in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene. Especially, osteocartilaginous overgrowth in the patella or distal femur was so characteristic that its presence warranted a diagnosis of chronic infantile neurologic cutaneous and articular/NOMID. Results: We observed the clinical features of 9 Korean CAPS patients. All the patients suffered from an urticarial rash with recurrent fever. Among the 9 patients, 6 presented with rash and 4 with fever on the 1st or 2nd days of birth. Eight patients showed myalgia, and 7 patients showed arthralgia in the joints, and 6 patients showed radiologic findings of arthropathy including cupping of the metaphysis, excessive growth of the epiphysis, osteopenia or overgrowth of the cartilage. Four patients showed brain atrophy, enlarged ventricles or leptomeningeal enhancement on magnetic resonance imaging. Intellectual disability was observed in 1 patient. Five patients had eye involvement as conjunctivitis, uveitis, chorioretinitis, avascular area or papillary edema, and 3 patients showed progressive hearing loss. All 9 patients showed increased C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Conclusions: All the patients carried a mutation on exon 3 of the CIAS1 gene. After the anakinra (interleukin-1 receptor antagonist) therapy, the fever and rash immediately disappeared, and CRP and ESR were improved.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.79-83
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• 2019

Treacher Collins syndrome(TCS) is an autosomal craniofacial development disorder which results from mutations in the gene TCOF1. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss. Oral manifestations are characterized by cleft palate, shortened soft palate, malocclusion, anterior open bite and enamel hypoplasia. The purpose of this presentation is to describe the interesting aspects of dental treatment of a patient with TCS. A 6-year-old boy with TCS visited Seoul National University Dental Hospital for dental caries. Multiple caries was observed from clinical and radiographic examination. Because of multiple caries and behavior management ploblem, dental treatment under general anesthesia was planned. Treatment of posterior teeth was performed and some primary teeth were extracted. General anesthesia was induced and maintained with sevoflurane, nitrous oxide and oxygen. Under general anesthesia, successful dental procedure was done. Considering behavior management problem and medical condition of patient with TCS, general anesthesia can be useful.

• Journal of the korean academy of Pediatric Dentistry
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• v.48 no.2
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• pp.209-220
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• 2021

The noise is defined as unwanted sound that causes discomfort and physical changes. This study was conducted to evaluate intensity of noise in the pediatric dental clinic and to investigate noise environment of a pediatric dentist. Human ear shaped microphone and mobile noise level meter were used for recording noise and calculating intensity of noise. By recording according to the method specified by Korea Occupational Safety and Health Agency (KOSHA) of Korea Ministry of labor and employment, the following results were obtained. For 16 experimental days, 8 hour time weighted average (8hr-TWA) was 49.33 dBA (A-weighted deci-Bell) on daily average with maximum 58.54 dBA and minimum 33.97 dBA. And Dose was 0.49% on daily average with maximum 1.28%, minimum 0.04%. These values are less than criteria of KOSHA standard (85 dBA, 100%). Comparing the highest noise level for each patient, pulp therapy group and Frankel grade I group were the highest. The intensity of dental noise of pediatric dental clinic didn't meet standard of KOSHA. It is necessary to re-evaluate noise environment by establishing new standards considering environment of pediatric dental clinic.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.35 no.3
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• pp.25-35
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• 2022

Objectives : This study is designed to analyze outpatients who received medical treatments in ophthalmology, otolaryngology & dermatology clinic in Cheonan for 3 years. Based on the results, we intend to identify the trends of outpatients and provide the base data that can be used for future researches on patient characteristics, and Korean medicine treatments on field, statistical surveys, policy setting related to medical services. Methods : We retrospectively analyzed outpatients according to gender, year, age, season, main diagnosis, number of visits. The statistical analysis performed using IBM SPSS 25.0 for Windows. Results : The results of analyzing the electronic medical records of 1,260 patients are as follows. 1. Patients increased in 2019 compared to 2018, but decreased due to the influence of COVID-19 in 2020, and women visited more than men. The most visited age group was 40s and 50s, and summer was the highest in season. 2. By analyzing the number of visits per patient, men visited more than women, under the age of 20 was highest in age group and spring was highest in season. 3. Every year, sudden hearing loss, a frequent disease in otology, increased, and rhinitis, a frequent disease in ophthalmology, decreased. And the proportion of patients in dermatology was about 30% of the total 100 diseases. Conclusions : In order to increase the supply and use of Korean medicine in the Cheonan area in the future, it is essential to provide support at the association level and systematic supplement at the government level in consideration of the characteristics of the patient group and the trend of frequency diseases.

• Journal of Animal Reproduction and Biotechnology
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• v.37 no.4
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• pp.292-297
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• 2022

Direct injection of CRISPR/Cas9 into zygotes enables the production of genetically modified nonhuman primates (NHPs) essential for modeling specific human diseases, such as Usher syndrome, and for developing novel therapeutic strategies. Usher syndrome is a rare genetic disease that causes loss of hearing, retinal degeneration, and problems with balance, and is attributed to a mutation in MYO7A, a gene that encodes an uncommon myosin motor protein expressed in the inner ear and retinal photoreceptors. To produce an Usher syndrome type 1B (USH1B) rhesus macaque model, we disrupted the MYO7A gene in developing zygotes. Identification of appropriately edited MYO7A embryos for knockout embryo transfer requires sequence analysis of material recovered from a trophectoderm (TE) cell biopsy. However, the TE biopsy procedure is labor intensive and could adversely impact embryo development. Recent studies have reported using cell-free DNA (cfDNA) from embryo culture media to detect aneuploid embryos in human in vitro fertilization (IVF) clinics. The cfDNA is released from the embryo during cell division or cell death, suggesting that cfDNA may be a viable resource for sequence analysis. Moreover, cfDNA collection is not invasive to the embryo and does not require special tools or expertise. We hypothesized that selection of appropriate edited embryos could be performed by analyzing cfDNA for MYO7A editing in embryo culture medium, and that this method would be advantageous for the subsequent generation of genetically modified NHPs. The purpose of this experiment is to determine whether cfDNA can be used to identify the target gene mutation of CRISPR/Cas9 injected embryos. In this study, we were able to obtain and utilize cfDNA to confirm the mutagenesis of MYO7A, but the method will require further optimization to obtain better accuracy before it can replace the TE biopsy approach.

• The Journal of the Society of Stroke on Korean Medicine
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• v.9 no.1
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• pp.40-45
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• 2008

Meniere's disease is characterized by intermittent episodes of vertigo lasting from minutes to hours, with fluctuating hearing loss, tinnitus, and aural pressure. The primary histopathological correlate is endolymphatic hydrops, but its etiology is still disputed. Several medical therapies have been offered to patients with this disease since 1961 that the first report had been given by Prosper Meniere. Some will be helpful for relieving the symptoms but there is still no absolutely effective treatment to cure the disease. One male patient with Meniere's disease was hospitalized in Kyung-Hee medical center, and we treated him with oriental medical therapies. The treatment was effective to relieve his symptoms, and they had been successfully controlled until he was discharged from hospital. The result suggests that the oriental medical therapy is safe and helpful to patients with Meniere's disease, so we reported this case.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.37 no.2
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• pp.1-13
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• 2024

Objectives : The purpose of this study is to figure out the changes in sex, age, disease distribution of outpatients in ophthalmology and otolaryngology of Korean medicine. Methods : We analyzed the medical records of 2,834 outpatients who visited department of ophthalmology and otolaryngology of Korean medicine at Kyung Hee university Korean medicine hospital between 2018 and 2022. And we compared the results with those of studies from 2000, 2007, and 2017, considering sex, age, and diseases. Results : 1. The total number of patients in ophthalmology and otolaryngology increased compared to 2012-2016, with a higher proportion of patients aged 50 and above in all departments. 2. The number of patients in ophthalmology has been continuously decreasing since 1996-1998. 3. The number of patients in otology has increased significantly compared to 2012-2016, with a trend towards a lower proportion of tinnitus and hearing loss. 4. The number of patients in rhinology has not recovered from the significant decrease in 2012-2016, and rhinitis continues to constitute a significant proportion. 5. The number of patients in laryngology has increased significantly compared to 2012-2016, with a trend towards a less proportion of laryngopharyngitis. Conclusion : The active utilization of diagnostic equipment, further research and promotion of Korean medicine treatment for ophthalmology and otholaryngology diseases are essential for expanding the treatment domain within ophthalmology and otolaryngology of Korean medicine.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.48-56
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• 2000

Purpose: Alport SD., the most common herectitary rephriris, is a renal disease with rapid progression. Deafness, ocular abnormalities and a specific EM finding may be associated in addition to a family history. We have aralyged retrospectively. Methods: We observed 12 children with Alport syndrome who were diagnosed at Dept. of pediatrics in Kyunghee Univ., College of Medicine, from Apr. 1991 until Jun. 1999. We used four criteria for diagnosis: renal disease, family history, deafness or eye abnormalities, and a specific finding in electron microscopy Results: 2 of 12 patients had all features of the four diagnostic criteria. We could not trace an exact family history in 3 patients, and 6 patients did not exhibit deafness or eye abnormality. One could not have renal biopsy because offer chronic renal failure. Other three criteria were observed in her. The ratio of male to female observed was 1:2 respectively and the mean age of initial renal symptom was 5.6 years. 9 of 12 patients had a family history of renal disease. In the audiogram and ocular examination for 11 of 12 cases, sensorineural hearing loss was observed in 6 and ocular abnormality in 2 cases. In electron microscopic finding, irregular thickness of the capillary basement membranes with lamination of lamina densa and foot process obliteration was noted in 9 of 11 and thin basement membrane with splitting and foot process obliteration was noted in the other 2. The mean period of follow-up was 3 6/12 years. And one patient developed the chronic renal failure until now and had kidney transplantation. Conclusion: For the diagnosis of Alport syndrome, the following four diagnostic criteria are very important : renal disease, family history, deafness or eye abnormalities, and a specific finding on electron microscopy. We expect that more patients can be detected through the analysis of these characteristics.