• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• The Journal of Korean Academy of Prosthodontics
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• v.61 no.3
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• pp.204-214
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• 2023

The occlusal treatment including prosthetic treatment should be considered when the pathologic symptom was observed with the excessive discrepancy between the centric relation occlusion (CRO) and the maximum intercuspal position (MIP). Through careful diagnosis, the malocclusion and interarch relationship can be analyzed, and occlusal adjustment, restorative treatment, orthodontic therapy, or orthognathic surgery can be performed depending on the degree of disharmony. The patient in this case report complained the unstable occlusion and loss of masticatory function that had been occurring for several years. At the time of the visit, the patient showed severe occlusal disharmony, with only the upper right second molar contacting the lower jaw at the maximum intercuspal position. Based on the analysis of the occlusion, it was difficult to solve the problem with just occlusal adjustment or restorative treatment. In addition, the patient had the skeletal class II malocclusion between the upper and lower jaws. Therefore, for resolving the severe skeletal class II malocclusion, pre- and post-orthodontic treatment, bilateral sagittal split ramus osteotomy (BSSRO) was performed. After that, the occlusal adjustment was performed for stable occlusion, and the missing teeth area was restored with dental implants. During the follow-up period, a periodic follow-up visits and additional occlusal adjustments were performed to achieve a stable centric occlusion and harmonious anterior and lateral guidance. As a result, the final prosthodontic treatment was completed, and the patient's masticatory function was restored.

• Clinical and Experimental Pediatrics
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• v.45 no.6
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• pp.773-782
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• 2002

Purpose : To identify the necessity of more reasonable diagnostic criteria and the possibility of early prediction of coronary involvement in the higher risk group, we investigated and compared clinical and laboratory findings in the acute phase and coronary involvements in those younger (n=17) and older(n=53) than one year of age in Kawasaki disease(KD). Methods : Retrospective chart reviews were performed on 70 patients with KD who were admitted to the Chung-Ang University Hospital from April 1997 to May 2001. Results : Male were significantly higher in the younger age group(M : F ratio 3.3 : 1 vs. 1.0 : 1, P=0.004). Fever durations before intravenous immunoglobulin(IVIG) and echocardiography were significantly shorter in the younger group($4.6{\pm}1.3$ vs. $6.2{\pm}2.5$, P=0.004 vs. 0.01, respectively). Cases meeting typical diagnostic criteria were significantly less in the younger group(P=0.006). In the laboratory findings, serum albumin, BUN and $K^+$ levels in the acute febrile phase were significantly higher in the younger group(P=0.002, 0.006, <0.001, respectively) and incidences of coronary artery dilatation in the acute phase were significantly higher in the younger group(P=0.01). Conclusion : Although less met the typical diagnostic criteria of KD, infants younger than one year of age are more susceptible to coronary artery change in the acute febrile phase. Therefore, KD should be entertained as a diagnostic possibility in young infants with prolonged fever without distinct fever focus, and echocardiography should be considered as part of the evaluation of these patients, and then early diagnosis and prompt IVIG should be conducted.

• Journal of Chest Surgery
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• v.36 no.8
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• pp.545-558
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• 2003

Adult respiratory distress syndrome (ARDS) is of particular interest because of its severity of the associated lung injury and its high mortality. However, the pathophysiologies of ARDS in infant and childhood groups are still not well clarified inspite of many previous investigations. To investigate the time course of pathophysiology of ARDS in infant and childhood groups, this study was designed with experimental endotoxin-induced ARDS model using young rabbits (8 week-old). Material and Method: Rabbits were divided into the control group (n=8) and the endotoxin-treated group (n=32). The endotoxin group was subdivided into 4 groups by the sampling times as 3, 6, 12 and 24 hr-groups (G- $E_{3,6,12,24,}$ each n=8). The experimental ARDS was made by a bolus injection of endotoxin (Escherichia coli serotype 055 : B5, 0.50 mg/kg) via rabbit ear vein. For evaluation of the hematologic and inflammatory markers, and superoxide dismutase (SOD) concentrations, the blood samples were taken from the heart. The bronchoalveolar lavage fluid (BALF) were obtained for analysis of the leukocytes and protein concentration. With biopsy of the lung, histopathologic changes of the lung were also evaluated. Result: In the endotoxin groups, significant leukopenia (owing to pancytopenia) occurred in 3 and 6-hr groups, which was followed by significant leukocytosis (owing to neutrophilia) in the 12 and 24-hr groups (p<0.05). Serum levels of tumor necrosis factor-$\alpha$ (TNF-$\alpha$) and interleukin-1 $\beta$ (IL-1 $\beta$) in the endotoxin groups were higher than those of control group (p<0.05). Serum levels of superoxide dismutase (SOD) of G- $E_{3}$ and G- $E_{6}$ were higher than those of control group, whereas those of G- $E_{12}$ were lower than those of control groups (p<0.05). Total leukocyte counts and protein con-centrations in BALF were significantly elevated in the endotoxin groups compared to the control group (p < 0.05). The hemorrhagic pattern of BALF showed occurred in the endotoxin groups. The endotoxin groups (in G- $E_{6}$) had severe infiltration of inflammatory cells (lymphocyte and monocyte) in the pulmonary interstitium and parenchyma, migrations of neutrophil and eosinophil into alveolar spaces and interstitial widening, which are the evidences of acute lung injury. In the endotoxin groups, there were significant positive correlations between the BALF findings and the immunologic markers (TNF-$\alpha$, IL-1$\beta$, SOD) (p<0.05). Conclusion: Severe acute lung injury occurred in all the endotoxin-treated rabbits. The pathophysiologic findings were so progressive until 6-hr by time dependant pattern, and then recovered slowly, Variable hematologic, immuno-logic, and pathologic factors were well correlated in the development and progression of endoxin-induced lung injury. The pathophysiologic responses were sensitive and rapid in young rabbit Young rabbit seemed to be a useful experimental animal model for infant and childhood groups.roups.

• Journal of Oral Medicine and Pain
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• v.33 no.4
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• pp.339-352
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• 2008

Aims: The aims of this study were to identify the association between cervical muscle pain and TMD by pressure pain response, and to find cervical muscles showing moderate to severe pressure pain that are correlated with masticatory muscle pain. Methods: Patients(n=129, female 65.9%, mean age 28.8 years) answered a TMD questionnaire asking about headache, neck pain, emotional stress, sleep disturbance, parafunction habits, and pain intensity. A clinical examination of the masticatory system was performed. Of the neck muscles, (1) the upper sternocleidomastoid, (2) the middle sternocleidomastoid, (3) the upper trapezius, (4) the splenius capitis, (5) the semispinalis capitis, (6) the scalene medius, and (7) the levator scapulae muscles were examined by palpation. Pressure pain or tenderness of all palpation sites was scored from 0 to 3 according to the pain response. The variables of sum of pressure pain scores were calculated from pressure pain scores and were used for statistical analyses. Results: Eighty patients(62.0%) answered that they suffer from neck pain in the TMD questionnaire. More than 40% of sternocleidomastoid and upper trapezius examination sites showed moderate to severe tenderness in the cervical muscles, and 36% of middle masseter in the masticatory muscles. For the 129 patients, the sum of cervical muscle pain scores(mean=12.88, SD=8.06) and the sum of TMD pain scores(mean=5.36, SD=5.10) were moderately correlated($\rho$ = 0.502, P < 0.001). The sum of TMD pain scores tends to increase as the sum of cervical muscle pain scores increases(Y = 0.395${\cdot}$X, $R^2$ = 0.659, P < 0.001). In the patients with masticatory muscle disorders, the sum of sternocleidomastoid and upper trapezius pain scores(mean = 8.67, SD = 4.95) and the sum of temporalis and masseter pain scores(mean = 3.37, SD = 3.56) showed moderate correlation($\rho$ = 0.375, P < 0.001). Those two variables were in a proportionate relationship(Y = 0.359${\cdot}$X, $R^2$ = 0.538, P < 0.001). In a partial correlation analysis of the sum of unilateral pain scores, the sum of right cervical muscle pain scores and the sum of left cervical muscle pain scores showed the highest correlation(r = 0.802, P < 0.001). The sum of right TMD pain scores and the sum of left TMD pain scores were moderately correlated(r = 0.481, P < 0.001). For the twenty patients with unilateral TMD pain, the partial correlation coefficient between the sum of ipsilateral cervical muscle pain scores and the sum of contralateral cervical muscle pain scores was the largest(r = 0.597, P = 0.009). A partial correlation between the sum of primary TMD side pain scores and the sum of ipsilateral cervical muscle pain scores was 0.564(P = 0.015). Conclusions: TMD is associated with cervical muscle pain on condition of pressure pain response to palpation. Of the cervical muscles, sternocleidomastoid and upper trapezius frequently exhibit moderate to severe pressure pain, and they are closely related to the masticatory muscle pain. The characteristic of symmetric involvement of pain is prominent in cervical muscles; however, TMD can affect the level of cervical muscle pain to modify its symmetric nature.

• Journal of agricultural medicine and community health
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• v.30 no.1
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• pp.1-14
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• 2005

Objectives: This study attempts to analyze the length of hospital stay and expenses of frequent disease admitted in a Vaterans Hospital. Methods: Data was collected from January 1, 2001 to December 31, 2003 from the Claim records of 9,640 patients in a Vaterans Hospital. Results: The results were as follows: 1. In age & sex distribution, there was male 70.9%, female 29.1%, and 35.8% of them is 70 age group. Frequency by insurance program was Health insurance 78.1%, Medical aid 14.2%, no insurance 4.1%, others 3.6%. Distribution of each department was internal medicine 28.3%, orthopedic surgery 21.3%, surgery 16.6%, neurosurgey 7.1%, pediatrics 5.9%. Also, in the veterans group, male to female patient ratio was 99.3% male to 0.7% female, them over 70 years old was 51.6%, and them which live in daejeon was 43.5%. 2. In frequency of disease, there was gastroenteritis 4.8%, pneumonia 3.8%, cartaract 3.7%, cerebral infarct 3.2%, hyperplasia of prostate 3.0%. In frequency of korean standard classification of diseases, there was injury and poisoning and certain other consequences of external causes 17.1%, diseases of digestive system 16.1%, diseases of musculoskeletal system and connective tissue 13.9%, diseases of respiratory system 9.4%, diseases of genitourinary system 8.6%. Also, in veterans group, frequency of them was diseases of musculoskeletal system and connective tissue 19.4%, diseases of digestive system 16.8%, injury and poisoning and certain other consequences of external causes 15.7%, diseases of genitourinary system 9.7%, diseases of circuatory system 8.2%. 3. Average length of hospital stay was 29.0 days for total patients, 51.8 days for the veterans group, 15.7 days for the non-veterans one. Average total expenses was 3,669,579 won, the veterans group 7,263,877 won, the non-veterans one 1,560,333 won. The ratio of insurer to insuree was 55.2 : 44.8, the ratio of amount paid by patient in the veterans group 61.7%, in the non-veterans one 33.0%. 4. In items of medical expenses, fee for hospital accommodation was 34.7%, fee for medication 13.2%(injection 7.8%, drug 5.4%), fee for service 48.6%(physical therapy 26.3%, operation 9.7%, laboratory examination 5.2%, radiological examination 3.1%, etc), others 3.4%. In them for the veterans group, fee for physical therapy was 35.3%, fee for hospital accommodation 35.2%, fee for injection 6.2%, fee for operation 5.9%, for the non-veterans one, fee for hospital accommodation 35.7%, fee for operation 16.4%, fee for injection 11.4%, fee for laboratory examination 8.3%. 5. In the comparison of the frequency by Korean standard classification of diseases and distance between the hospital and home, the region under 21.5Km was more frequent in symptoms, signs an abnormal clinical and laboratory findings 56.0%, injury and poisoning and certain other consequences of external causes 55.6%, diseases of the eye and adnexa 52.9%, the one over 21.5Km was more frequent in neoplasms 57.4%, diseases of musculoskeletal system and connective tissue 55.9%, diseases of genitourinary system 53.5%.