• Clinical and Experimental Pediatrics
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• v.59 no.2
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• pp.91-95
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• 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

• Tuberculosis and Respiratory Diseases
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• v.50 no.3
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• pp.353-358
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• 2001

Relapsing polychondritis (RP) is rare, chronic, relapsing, and multisystemic inflammatory disease targeting the cartilaginous structures. Respiratory track involvement occurs in approximately half of the cases. Subglottic stenosis is a rare manifestation of RP. Here, we report a case of RP with a subglottic stenosis, resulting in acute respiratory failure. A 63-year old man was admitted complaining of multiple joint pain, general weakness, weight loss, throat pain, hoarseness, exertional dyspnea, and hearing difficulties. A laryngoscopy and neck CT revealed a subglottic stenosis. Four days after admission, he complained severe dyspnea resulting in acute respiratory failure. Immediately, a tracheostomy was done for airway preservation. After high dose steroid therapy, the general symptoms were improved. However, the subglottic stenosis was sustained. Thus, a laryngotracheal augumentation and stent insertion was performed. The speech valve was then replaced. The subglottic stenosis was managed with low dose steroid and monthly cyclophosphamide pulse therapy, and the patient has been followed up regularly.

• Journal of the korean academy of Pediatric Dentistry
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• v.23 no.3
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• pp.601-608
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• 1996

Robinow syndrome or fetal face syndrome is a rare inherited disorder characterized by short stature, mesomelic brachymelia, hypoplastic genitalia, and a typical facial appearence ("fetal face") with frontal bossing, hypertelorism, ear abnormalities, a short upturned nose, long philtrum, micrognathia, and macrocephaly. Intraoral features have included quite a few dental cavities, crowding, hypoplastic uvula, cleft lip or/and cleft palate, gingival hyperplasia, alveolar hyperplasia, enamel hypoplasia, delayed eruption, and congenital missing of the permanent teeth. We report on a 10 years old girl with Robinow syndrome. The patient had most of the typical anomalies of the syndrome and negative family history but, in addition, had mental retardation, hearing loss, and serous otitis media. Intraoral findings included dental cavities, crowding, hypoplastic uvula, repaired cleft palate, and mouth breathing. Dental treatment and V-tube insertion(by dept. of ENT) were performed under general anesthesia. In all cases of Robinow syndrome, thorough evaluation and united treatments with medical specialists should be performed.

• Clinical and Experimental Pediatrics
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• v.63 no.8
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• pp.284-290
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• 2020

Korea currently has the world's lowest birth rate but a rapidly inreasing number of preterm infants. The Korean Neonatal Network (KNN), launched by the Korean Society of Neonatology under the support of Korea Centers for Disease Control, has collected population-based data for very low birth weight infants (VLBWIs) born in Korea since 2013. In terms of the short-term outcomes of VLBWIs born from 2013 to 2016 registered in the KNN, the survival rate of all VLBWIs was 86%. Respiratory distress syndrome and bronchopulmonary dysplasia were observed in 78% and 30% of all VLBWIs, respectively. Necrotizing enterocolitis occurred in 7%, while 8% of the VLBWIs needed therapy for retinopathy of prematurity in the neonatal intensive care unit (NICU). Sepsis occurred in 21% during their NICU stay. Intraventricular hemorrhage (grade ≥III) was diagnosed in 10%. In terms of the long-term outcomes for VLBWIs born from 2013 to 2014 registered in the KNN, the post-discharge mortality rate was approximately 1.2%-1.5%, mainly owing to their underlying illness. Nearly half of the VLBWIs were readmitted to the hospital at least once in their first 1-2 years of life, mostly as a result of respiratory diseases. The overall prevalence of cerebral palsy was 6.2%-6.6% in Korea. Bilateral blindness was reported in 0.2%-0.3% of VLBWIs, while bilateral hearing loss was found in 0.8%-1.9%. Since its establishment, the KNN has published annual reports and papers that facilitate the improvement of VLBWI outcome and the formulation of essential healthcare policies in Korea.

• Journal of Korean Neurosurgical Society
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• v.47 no.6
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• pp.442-445
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• 2010

Objective : The purpose of this study was to examine the efficacy and safety of microvascular decompression (MVD) for hemifacial spasm (HFS) in elderly patients. Methods : Between 1997 and June 2008, 1,174 patients had undergone MVD for HFS at our institute. Among these, 53 patients were older than 65 years. We retrospectively reviewed and compared the complication and the cure rates of these patients with those of younger patients. Results : There were 38 females and 15 males. The mean duration of symptoms of HFS of these patients was 94.6 months (range, 12-360 months), compared with 67.2 months (range, 3-360 months) in the younger group. The overall cure rate in elderly patients who underwent MVD for HFS during this period was 96.2%. Permanent cranial nerve dysfunctions, such as hearing loss and facial palsy, were seen in 2 patients (3.8%, 2/53) in the elderly group and 19 patients (1.7%, 19/1121) in the younger group. The difference in permanent cranial nerve dysfunction between the two groups was not statistically significant. There was no operative mortality in either group. Conclusion : Microvascular decompression is the most effective surgical modality available for the treatment of HFS. Results of this study indicate that such technique can be performed in the elderly without higher rates of morbidity or mortality. Any patient with HFS, whose general health is acceptable for undergoing general anesthesia, should be considered as a candidate for MVD.

• Journal of Physiology & Pathology in Korean Medicine
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• v.19 no.5
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• pp.1349-1355
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• 2005

The steamed root of Rehmannia glutinosa has been used for treatment of inner ear diseases, such as tinnitus and hearing loss in traditional Oriental Medicine. In the present study, we investigated the effect of ethanol extract of steamed root R. glutinosa (SRG) on cisplatin cytotoxicity of HEI-OC1 auditory cells. In addition, to investigate the mechanism of SRG on cisplatin cytotoxicity, the effects of SRG on lipid peroxidation as well as scavenging activities against various free radicals were measured in cisplatin-treated cells. Treatment of SRG protected cells from cisplatin and reduced lipid peroxidation in a dose-dependent manner. Furthermore, SRG demonstrated significant scavenging activity against various free radicals, including superoxide radical, hydroxyl radical, hydrogen peroxide, and DPPH radical. These results indicate that SRG protects cisplatin-induced damages of HEI-OC1 cells through inhibition of lipid peroxidation and augmenting scavenging activities against free radials.

• Herbal Formula Science
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• v.18 no.2
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• pp.267-277
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• 2010

Objective : Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS) syndrome is a progressive neurodegenerative disorder. The typical presentation of patients with MELAS syndrome includes features such as mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes. Other features, such as seizures, diabetes mellitus, hearing loss, cardiac disease, short stature, endocrinopathies, exercise intolerance, and neuropsychiatric dysfunction are clearly part of the disorder. Approximately 80% of patients with the clinical characteristics of MELAS syndrome have a genetic mutation. This progressive disorder is reported to have a high morbidity and mortality. This case report is intended to estimate clinical effects of oriental meedicinal treatment of MELAS syndrome. Methods : A 44 year old female patient diagnosed as MELSA syndrome was treated with general oriental medicinal therapy including acupuncture, moxibustion, cupping, pharmacupunture and herbal medication in 20XX in Wonkwang Medical Center Gwangju. And the changes in symptoms and signs were evaluated as time dependently. Results : Although there is currently no curable treatment and MEALS syndrome is tend to progress, our treatment showed improvement in general weakness, gait disturbance and pain in the patient. Conclusion : Our case report suggests that various oriental medicinal treatment could be effective for improvement of MELAS syndrome and may represent a new potential therapeutic approach to control the disease. It could be applied to improve general condition, prevent relapse, enhance the quality of life and reduce complaints in the patient.

• Safety and Health at Work
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• v.4 no.2
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• pp.77-83
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• 2013

There is still a considerable burden of occupational diseases and injuries in the world. It is not well known which interventions can effectively reduce the exposures at work that cause this burden. The objective of this article is to summarize evidence from systematic reviews of interventions to prevent occupational diseases and injuries. We included systematic reviews of interventions to reduce the incidence of work-related cancer, dust-related diseases, occupational asthma, chronic obstructive pulmonary disease, noise induced hearing loss, back pain, and occupational injuries. We searched Medline and Embase with predefined search strategies to locate systematic reviews of these interventions. We found 23 systematic reviews of which the results are also applicable to low- and middle income countries. Effective measures to reduce exposure leading to work-related cancer, dust-related diseases, asthma, chronic obstructive pulmonary disease, noise, and injuries are available. However, better implementation of these measures is needed. Regulation, enforcement of regulation, and incentives for employers are effective interventions to achieve this goal. There is evidence that feedback and rewards for workers help in reducing occupational injuries. There is no evidence in many studies that back pain can be prevented. Personal protective equipment technically has the potential to reduce exposure but this is difficult to put into effect. There is no evidence in the studies regarding the effectiveness of education and training, preventive drugs, or health examinations. There is evidence that the implementation of technical measures enforced by regulation can prevent occupational diseases and injuries. For other interventions such as education or health examinations, there is no evidence that supports their effectiveness. More systematic reviews are needed in the area of injury prevention.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.21 no.1
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• pp.121-132
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• 2008

Objective : This study was performed to examine the patterns of inpatients that had visited Dept. of Dermatology Hospital of Oriental Medicine, Dongguk University. Methods : We analysed statistic study in 106 patients, who had admitted to the Dept. of Dermatology, Ophthalmology & Otorhinolaryngology Hospital of Oriental Medicine, Dongguk University from July, 2005 to January, 2008. Results : The results were as follows; 1. Males were 50.94% and females were 49.06%. 2. Distribution of aging was 18.87% in twenties and 17.92% in fifties. 3. Common disease group were Facial palsy(33.96%); Atopic dermatitis(21.7%); Tinnitus(7.55%); Sudden Sensorineural Hearing loss(4.72%); Sore throat(5.66%). 4. Average age of Facial palsy patients was 50.9 years old, average hospitalized period were 10.47days and subjective satisfaction rate was 2.56 points on the basis of 4 points. 5. Average age of Atopic dermatitis patient's average age was 22.22 years old, average hospitalized period were 8.35days and subjective satisfaction rate was 3.44 points on the basis of 4 points. 6. 47.2% of all patient were admitted into the hospital on 1st or 2nd outpatient service and 44% of Facial palsy patient were admitted into the hospital via emergency room. 7. All patient's average hospitalized period were 7.5 days. 8. All patient's subjective satisfaction rate were 2.97 points on the basis of 4 points. Conclusion : This study suggests that oriental medical treatments is especially popular in facial palsy and atopic dermatitis. We have to take steps for effective management and treatment for special diseases and ages.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.44-48
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• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.