• 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.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.164-175
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• 2001

Purpose : Alport syndrome is a hereditary nephrotic disease characterized by progressive nephrotic symptom, sensorineural hearing loss, ophthalmic abnormality, typical microscopic findings, and familial occurrence. In this study, we tried to find the risk factors related with its prognosis by taking a close observation on clinical symptoms of children with Alport syndrome reviewing retrospectively. Materials & methods : We chose children diagnosed as Alport syndrome in renal biopsy during 20 years(from 1980, Jan. until 1999, Dec.) who could receive follow up studies in tile department of pediatrics. They were divided into two groups by comparing renal function at the time of diagnosis and at current status. We compared several clinical aspects in them, and applied nonparametric test for statistical analysis. Results : The sex ratio(male:female) of 24 children was 3:1. The most common clinical symptom presented at their first visit was gross hematuria. Among those 24 children, 11 cases($46\%$) of progressing into chronic renal failure(Group II) were observed. Hypertension, proteinuria and edema were seen much frequently in group II. The level of serum protein, albumin, and creatinine clearance were decreased while BUN, creatinine were relatively increased. All the results were statistically significant. Conclusion Clinically significant risk factors related to prognosis in Alport syndrome were the presence of hypertension, edema, and proteinuria at the time of diagnosis. Also, the level of serum protein, albumin, BUN, creatinine, and glomerular filtration rate were proved to be important factors in predicting prognosis. We believe that studies on these possible risk factors would be of great help in treating and predicting prognosis of children suffering with Alport syndrome. (J Korean Soc Pediatr Nephrol 2001;5 : 164-75)

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1132-1138
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• 2005

Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.

• Pediatric Infection and Vaccine
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• v.17 no.2
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• pp.91-100
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• 2010

Purpose : Recurrent otitis media (ROM) is usually defined as ${\geq}$3 distinct and well-documented episodes within 6 months or ${\geq}$4 episodes within 12 months. ROM is sufficiently important to warrant consideration of chemoprophylaxis, tympanostomy tube placement. There also is evidence that children with ROM are at risk for both hearing loss and speech delay. However, studies of ROM have been notably insufficient. In addition, even though environmental, racial, and sociocultural differences can affect risk factors, few studies have been conducted with regard to recurrent otitis media in Korea. Methods : This study was conducted from July 2009 to January 2010 with infants and children who were younger than 60 months old, who visited the out-patient clinics at Han-Il General Hospital and Kyunghee University Hospital. Data were collected by interview using a pre-formed sheet. Among a total of 892 infants and children, 457 were excluded, and the remaining 435 were allocated to 104 with ROM and 331 as a control group. Results : Attendance at daycare centers (P<0.001, OR=2.85), allergic rhinitis (P=0.026, OR=2.32), past history of bronchiolitis (P=0.003, OR=2.33), and low socioeconomic status (P=0.005, OR=2.00) were found to have a close significant correlation with ROM. Risk factors such as sex, having a sibling, breast-feeding, use of pacifiers, atopy, pneumococcal vaccination, influenza vaccination, smoking of parents, and indoor smoking are not relevant. Conclusion : Attendance at daycare centers, allergic rhinitis, past history of bronchiolitis, and low socioeconomic status have been identified as risk factors for ROM.