• Journal of Genetic Medicine
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• v.14 no.2
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• pp.86-89
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• 2017

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.

• Archives of Obesity and Metabolism
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• v.2 no.2
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• pp.54-63
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• 2023

Estrogen is crucial in regulating food intake, energy expenditure, glucose metabolism, and lipid metabolism. During menopause, the decline in estrogen levels predisposes women to weight gain, abdominal obesity, insulin resistance, type 2 diabetes, hypertension, and cardiovascular disease (CVD). Menopausal hormone therapy (MHT) prevents weight gain, improves lipid metabolism by lowering low-density lipoprotein cholesterol while raising high-density lipoprotein cholesterol, and delays the onset of type 2 diabetes in menopausal women. The effect of MHT on CVD in menopausal women remains controversial. The Women's Health Initiative study was terminated prematurely after it revealed that hormone administration increased the risk of myocardial infarction, stroke, and thromboembolism. However, some studies have found that MHT had no effect or decreased the risk of CVD. The inconsistent results were likely due to multiple factors, including the timing of hormone therapy initiation, duration of therapy, type and dosage, and presence or absence of CVD risk factors at the start of treatment. Despite its benefits in terms of managing weight gain and reducing the risk of type 2 diabetes, dyslipidemia, and CVD associated with obesity, it is not recommended as the primary therapy for weight loss or diabetes prevention. MHT is primarily indicated for postmenopausal women, who are likely to benefit from its potential to prevent weight gain and improve lipid metabolism.

• Journal of Veterinary Science
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• v.21 no.4
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• pp.63.1-63.9
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• 2020

Background: Canine adenovirus type 2 (CAV-2) induces infectious laryngotracheitis in members of the family Canidae, including dogs. To date, no ELISA kits specific for CAV-2 antibody have been commercialized for dogs in Korea. Objectives: We aimed to develop new indirect enzyme-linked immunosorbent assay (I-ELISA) to perform rapid, accurate serological surveys of CAV-2 in dog serum samples. Methods: In total, 165 serum samples were collected from dogs residing in Chungbuk and Gyeongbuk provinces between 2016 and 2018. The Korean CAV-2, named the APQA1701-40P strain, was propagated in Madin-Darby canine kidney cells and purified in an anion-exchange chromatography column for use as an antigen for I-ELISA. The virus-neutralizing antibody titers of CAV-2 in the dog sera were measured by virus neutralization (VN) test. Results: We compared the results obtained between the VN and new I-ELISA tests. The sensitivity, specificity, and accuracy of new I-ELISA were 98.6%, 86.4% and 97.0% compared with VN test, respectively. New I-ELISA was significantly correlated with VN (r = 0.91). Conclusions: These results indicate that new I-ELISA is useful for sero-surveillance of CAV-2 in dog serum.

• Advances in pediatric surgery
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• v.9 no.2
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• pp.81-88
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• 2003

Congenital dilatation of the common bile duct (choledochal cyst) is an uncommon disease. Although the etiology is unknown yet, various theories such as distal obstruction of the common bile duct, congenital weakness of the duct and anomalous union of the pancreaticobiliary duct have been offered to explain the occurrence of choledochal cyst. Thirty - six cases of choledochal cyst over 22 years were analyzed clinically and classified according to Todani's classification and Kimura's anomalous union of pancreaticobiliary duct type. Todani type 1 consisted with 22 cases which were subdivided into 19 cases of type Ia, 1 case of type Ib and 2 of type Ic. Type IVa consisted with 14 cases including one case of Caroli's disease. There were 25 type BP cases and 10 type PB cases and 1 normal pancreatobiliary junction. Serum alkaline phosphatase was increased significantly in almost all cases. Seven patients (19.4%) had associated congenital anomalies such as double gallbladder, left - sided gallbladder, common bile duct web, biliary atresia, accessory hepatic duct, heterotopic pancreas, cleft lip and 2 cases of intestinal malrotation. All patients underwent cyst excision and Roux - en - Y hepaticojejunostomy and cholecystectomy. There was one death due to methicillin resistant Staphylococcus aureus sepsis.

• The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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• v.17 no.3
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• pp.95-101
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• 2004

Objective: The purpose of this study is to investigate the past history of the patients with peripheral type nerve palalysis. Methods: We examined the age, sex, region, month, season, past disease and cause of 692(343 male, 349 female) patients with peripheral type nerve palalysis who visited Dept. of Acupuncture and Moxibustion, Bundang Oriental Medicine Hospital, Dongguk University, from 2001-10-1 to 2004-9-30. Results: 420 patiens(60.7$\%$) were in the age between 30-59. The region, sex, and seasonal distribution didn't have a remarkable contrasts. In the past disease, Hypertension(14.5$\%$), Diabets mellitus(9.2$\%$), Gastric diseases(3.9$\%$) and Live diseases(3.8$\%$) were investigated highly than other diseases. In the distribution of cause, fatigue(36.3$\%$), unknown(34.8$\%$), stress(19.2$\%$) cold exposure(12.1$\%$) were investigated highly than other causes.

• BMB Reports
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• v.40 no.5
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• pp.662-669
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• 2007

Although the function of cellular prion protein (PrP$^C$) and the pathogenesis of prion diseases have been widely described, the mechanisms are not fully clarified. In this study, increases of the portion of non-glycosylated prion protein deposited in the hamster brains infected with scrapie strain 263K were described. To elucidate the pathological role of glycosylation profile of PrP, wild type human PrP (HuPrP) and two genetic engineering generated non-glycosylated PrP mutants (N181Q/N197Q and T183A/T199A) were transiently expressed in human astrocytoma cell line SF126. The results revealed that expressions of non-glycosylated PrP induced significantly more apoptosis cells than that of wild type PrP. It illustrated that Bcl-2 proteins might be involved in the apoptosis pathway of non-glycosylated PrPs. Our data highlights that removal of glycosylation of prion protein provokes cells apoptosis.

• Journal of Chest Surgery
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• v.24 no.8
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• pp.819-823
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• 1991

The congenital cystic adenomatoid malformation of the lung is a rare disease, and is one of the most common congenital lung diseases which require prompt surgical intervention. The prognosis depends on its tissue type, prompt diagnosis and surgical intervention. The lesion consists of enlarged, variable sized multiple cyst with overgrowth of terminal bronchioles, like hamartoma. This disease can be associated with other vascular anomalies or other congenital defect especially in type II lesion We recently experienced one case of congenital cystic adenomatoid malformation The patient was 2 months old infant who showed respiratory distress without associated anomaly. After right upper lobe lobectomy, the patient was recovered uneventfully.

• Journal of Korean Neurosurgical Society
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• v.50 no.6
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• pp.486-491
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• 2011

Objective : Structural genetic variation, including copy-number variation (CNV), constitutes a substantial fraction of total genetic variability, and the importance of structural variants in modulating susceptibility is increasingly being recognized. CNV can change biological function and contribute to pathophysiological conditions of human disease. Its relationship with common, complex human disease in particular is not fully understood. Here, we searched the human genome to identify copy number variants that predispose to moya-moya type cerebrovascular disease. Methods : We retrospectively analyzed patients who had unilateral or bilateral steno-occlusive lesions at the cerebral artery from March, 2007, to September, 2009. For the 20 subjects, including patients with moyamoya type pathologies and three normal healthy controls, we divided the subjects into 4 groups : typical moyamoya (n=6), unilateral moyamoya (n=9), progression unilateral to typical moyamoya (n=2) and non-moyamoya (n=3). Fragmented DNA was hybridized on Human610Quad v1.0 DNA analysis BeadChips (Illumina). Data analysis was performed with GenomeStudio v2009.1, Genotyping 1.1.9, cnvPartition_v2.3.4 software. Overall call rates were more than 99.8%. Results : In total, 1258 CNVs were identified across the whole genome. The average number of CNV was 45.55 per subject (CNV region was 45.4). The gain/loss of CNV was 52/249, having 4.7 fold higher frequencies in loss calls. The total CNV size was 904,657,868, and average size was 993,038. The largest portion of CNVs (613 calls) were 1M-10M in length. Interestingly, significant association between unilateral moyamoya disease (MMD) and progression of unilateral to typical moyamoya was observed. Conclusion : Significant association between unilateral MMD and progression of unilateral to typical moyamoya was observed. The finding was confirmed again with clustering analysis. These data demonstrate that certain CNV associate with moyamoya-type cerebrovascular disease.

• The Korean Journal of Cytopathology
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• v.14 no.2
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• pp.86-90
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• 2003

Kimura's disease is a chronic inflammatory disorder of unknown cause and is most prevalent among Asians. The cytologic findings of Kimura's disease are significant numbers of eosinophils in a background of lymphoid cells, occasional fragments of collagenous tissue, proliferation oi vessels, and Warthin-Finkeldey polykaryocytes. Among these features, the most important cytologic feature of Kimura's disease is a significant numbers of eosinophils. We experienced a case of Kimura's disease in the parotid gland which we fatted to recognize on cytology due to the apparent paucity of eosinophils. On careful retrograde reviewing of the cytologic findings, a few scattered leukocytes, previously interpreted as polymorphous leukocytes, had bilobed nuclei and coarse green but granular cytoplasm on Papanicolaou preparation. These leukocytes showed obvious orange-red intracyloplasmic granules as in eosionophils on Giemsa stain. The paucity of eosinophils may be due to the thick fibrosis around lymphoid follicles or any technical error during aspiration. Whereas the Warthin-Finkeldey type giant cell is not a sensitive cytologic marker of Kimura's disease, it may be a helpful cytologic feature. To reach a correct cytologic diagnosis of Kimura's disease, It is important to keep in mind that searching for Warthin-Finkeldey type giant cells and evaluation of Giemsa stain for detection of eosinophils would be helpful.

• International Journal of Computer Science & Network Security
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• v.23 no.9
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• pp.150-156
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• 2023

For a doctor, diagnosing a patient's heart disease is not easy. It takes the ability and experience with high flying hours to be able to accurately diagnose the type of patient's heart disease based on the existing factors in the patient. Several studies have been carried out to develop tools to identify types of heart disease in patients. However, most only focus on the results of patient answers and lab results, the rest use only echocardiography data or electrocardiogram results. This research was conducted to test how accurate the results of the classification of heart disease by using two medical data, namely echocardiography and electrocardiogram. Three treatments were applied to the two medical data and analyzed using the decision tree approach. The first treatment was to build a classification model for types of heart disease based on echocardiography and electrocardiogram data, the second treatment only used echocardiography data and the third treatment only used electrocardiogram data. The results showed that the classification of types of heart disease in the first treatment had a higher level of accuracy than the second and third treatments. The accuracy level for the first, second and third treatment were 78.95%, 73.69% and 50%, respectively. This shows that in order to diagnose the type of patient's heart disease, it is advisable to look at the records of both the patient's medical data (echocardiography and electrocardiogram) to get an accurate level of diagnosis results that can be accounted for.