• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.93-97
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• Journal of Hospice and Palliative Care
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• v.8 no.2
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• pp.200-208
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• 2005

Purpose: Palliative procedures or surgical interventions not only manage various symptoms of malignant gastrointestinal obstruction, but also improve the quality of life. We investigated the clinical characteristics and prognostic factors of terminal cancer patients with palliative procedures for malignant gastrointestinal obstruction. Methods: We retrospectively reviewed the medical records of 48 terminal cancer patients with palliative procedures for malignant gastrointestinal obstruction at Sam Anyang hospital from May in 2002 to May in 2005. We excluded patients with palliative tumor resection. We analyzed prognostic factors in symtom-free survival and overall survival using Kaplan-Meier method, univariate and multivariate analysis. Results: There were 25 males (52%) and 23 females (48%), and median age of 48 patients was 65 years. The most common cause of malignant gastrointestinal obstruction was colorectal (26 patients, 55%), followed by stomach (10, 21%). Twenty patients (42%) received previous treatment (chemotherapy, surgery, and radiotherapy) and 28 (58%) never received any. Eighteen of 20 had received chemotherapy. The most common symptom was pain (15 patients, 31%). Twenty three patients (48%) had Eastern Cooperative Oncology Group(ECOG) performance status of 1 or 2 score and 25 patients (52%) 3 or 4 score. The most common palliative procedure was colostomy and there was no mortality concerning the palliative procedures. By univariate and multivariate analysis, performance status was the only independent prognostic factor in overall survival and symptom-free survival. Overall survival was 150 days and symptom-free survival was 90 days. Conclusion:. We confirmed that perftatdormance status is significant independent prognostic factor in terminal cancer patients with palliative procedures for malignant gastrointestinal obstruction.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.35-39
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• 2015

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.

• Journal of Korean Orthopaedic Sports Medicine
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• v.11 no.2
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• pp.75-81
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• 2012

Purpose: To evaluate the ultrasonographic (US) findings in both shoulders of asymptomatic high school baseball players and compare with healthy control. Materials and Methods: 42 individuals (age: $7.6{\pm}1.2$ years) participated in this study. We recruited two groups of high school male baseball players, 14 pitchers and 18 fielders without shoulder pain for recent 6 months as well as one control group of 10 untrained healthy high school students who were age-matched. Ultrasound measurements of thickness of the biceps and supraspinatus tendon and acromio-humral distance (AHD) at $0^{\circ}$ abduction were taken in dominant and nondominant shoulders. Results: On US examination, subacromial bursa effusion was observed in 7 of the dominant shoulders and in 2 of the nondominant shoulder of 32 baseball players and in none of the asymptomatic controls. The thickness of the biceps and supraspinatus tendons and AHD in both shoulders were significantly greater in the baseball players than in the controls (p<0.05). We also found that the biceps and supraspinatus tendon thickness and AHD of the dominant shoulder were significantly greater than the non-dominant shoulder in baseball players (p<0.05), but there were no differences between pitchers and fielders and between healthy controls. Conclusion: Subacromial effusion could be found even in the asymptomatic stage and the thickness of the biceps and supraspinatus tendons and AHD were significantly greater in the baseball players than in the healthy controls. Our data is useful reference guide for the ultrasonographic diagnosis of shoulder pathologies occurring in high school baseball players.

• The Journal of Korean Orthopaedic Ultrasound Society
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• v.5 no.2
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• pp.81-88
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• 2012

Purpose: To evaluate the ultrasonographic (US) findings in both shoulders of asymptomatic high school overhead athletes and compare with healthy control. Materials and Methods: 33 individuals (age: $17.5{\pm}1.4$ years) participated in this study. We recruited two groups of high school male athletes, 13 baseball and 10 volleyball players without shoulder pain for recent 6 months as well as one control group of 10 untrained healthy high school students who were age-matched. Ultrasound measurements of thickness of biceps and supraspinatus tendon and acromio-humral distance (AHD) at 0o abduction were taken in dominant and nondominant shoulders. Results: On US examination, subacromial bursa effusion was observed in 5 of the dominant shoulders and in 1 of the nondominant shoulder of 23 overhead athletes and in none of the asymptomatic controls. The thickness of the biceps and supraspinatus tendons and AHD in both shoulders were significantly greater in the athletes than in the controls (P<0.05). We also found that the thickness of the biceps and supraspinatus tendon and AHD of the dominant shoulder were significantly greater than the non-dominant shoulder in overhead athletes (P<0.05), but there were no differences between baseball and volleyball players. Conclusion: Subacromial effusion could be found even in the asymptomatic stage overhead athlete and the thickness of the biceps and supraspinatus tendons and AHD were significantly greater in the overhead athletes than in the healthy controls. Our data is useful reference guide for the ultrasonographic diagnosis of shoulder pathologies occurring in overhead athletes.

• Journal of the Korean Society of Radiology
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• v.84 no.3
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• pp.676-685
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• 2023

Purpose To investigate the incidence, outcomes, and imaging characteristics of clustered microcysts detected on breast US in asymptomatic women, and suggest appropriate management guidelines. Materials and Methods We identified and reviewed the lesions recorded as "clustered microcysts" on breast US performed in asymptomatic women between August 2014 and December 2019. The final diagnosis was based on pathology and imaging follow-up results for at least 12 months. Results The incidence was 1.5% and 100 patients with 117 lesions were included. Among 117 lesions, 3 (2.6%), 2 (1.7%), and 112 (95.7%) were malignant, high-risk benign, and benign lesions, respectively. The malignant lesions included two cases of ductal carcinoma in situ and one invasive ductal carcinoma. Two of them were assessed as category 4, showing mammographic suspicious microcalcifications and internal vascularity on Doppler US. The remainder was a false negative case and showed echo pattern change on the 12-month follow-up US. Conclusion The incidence of clustered microcysts on breast US in asymptomatic women was 1.5% and malignancy rate was 2.6% (3 of 117). Knowledge of outcomes and imaging features of benign and malignant clustered microcysts may be helpful for radiologists, thereby aiding categorization and management recommendations.

• Pediatric Infection and Vaccine
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• v.11 no.2
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• pp.198-201
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• 2004

Rotavirus is a most common etiologic viral agent of pediatric gastroenteritis. Most newborns infected by rotavirus show no specific symptoms, yet, some of neonates can develop serious complications such as intestinal perforation, necrotizing enterocolitis or even death. And rotavirus infection may cause only neurologic manifestation such as seizure without gastrointestinal manifestations in some neonates. We experienced a case of neonatal rotavirus infection with benign convulsion without gastrointestinal manifestations, and report this case with literature review as followings.

• Tuberculosis and Respiratory Diseases
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• v.64 no.3
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• pp.177-186
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• 2008

호산구성 폐렴은 혈중 호산구가 $1,000/mm^3$ 이상이거나 폐포 내 호산구 분획이 25% 이상으로 나타나는 다양한 폐 질환을 총괄하여 부르는 용어이다. 혈중 호산구증가증은 특발성 급성 호산구 폐렴의 초기나 이미 부신피질호르몬 제제를 투여받은 환자에서는 나타나지 않을 수 있다. 호산구성 폐렴은 무증상의 폐 침윤에서 기계 환기가 필요한 급성 호흡 부전 증후군까지 증상의 중증도도 다양하다. 호산구성 폐렴의 원인으로 약제나 기생충이 있지만 많은 경우 원인을 찾을 수 없다. 폐 외 증상이 동반될 경우 Churg-Strauss 증후군이나 과다호산구증가 증후군의 가능성을 생가해야 되며 이런 경우 심장을 침범하였는지 여부에 따라 예후가 결정된다. 가능한 원인에 대한 노출을 피하는 것 외에는, 부신피질호르몬 제제 투여가 가장 중요하며 대부분 극적인 호전을 보인다. 하지만 약제의 감량 중이나 치료 종결 후 재발하는 경우가 자주 있다. HES의 골수 증식성 변이형 치료에 imatinib의 효과가 최근 입증 되었다.

• Restorative Dentistry and Endodontics
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• v.36 no.6
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• pp.498-505
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• 2011

Objectives: The purpose of this in vivo study was to investigate the microbial diversity in symptomatic and asymptomatic canals with primary endodontic infections by using GS FLX Titanium pyrosequencing. Materials and Methods: Sequencing was performed on 6 teeth (symptomatic, n = 3; asymptomatic, n = 3) with primary endodontic infections. Amplicons from hypervariable region of the small-subunit ribosomal RNA gene were generated by polymerized chain reaction (PCR), and sequenced by means of the GS FLX Titanium pyrosequencing. Results: On average, 10,639 and 45,455 16S rRNA sequences for asymptomatic and symptomatic teeth were obtained, respectively. Based on Ribosomal Database Project Classifier analysis, pyrosequencing identified the 141 bacterial genera in 13 phyla. The vast majority of sequences belonged to one of the seven phyla: Actinobacteria, Bacteroidetes, Firmicutes, Fusobacteria, Proteobacteria, Spirochetes, and Synergistetes. In genus level, Pyramidobacter, Streptococcus, and Leptotrichia constituted about 50% of microbial profile in asymptomatic teeth, whereas Neisseria, Propionibacterium, and Tessaracoccus were frequently found in symptomatic teeth (69%). Grouping the sequences in operational taxonomic units (3%) yielded 450 and 1,997 species level phylotypes in asymptomatic and symptomatic teeth, respectively. The total bacteria counts were significantly higher in symptomatic teeth than that of asymptomatic teeth (p < 0.05). Conclusions: GS FLX Titanium pyrosequencing could reveal a previously unidentified high bacterial diversity in primary endodontic infections.

• Proceedings of the KSCN Conference
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• 2004.05a
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• pp.422.2-423
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• 2004

폐경을 전ㆍ후한 여성들의 갱년기 증상과 혈중 총항산화능과의 관련성 및 총항산화능에 영향을 미치는 식사요인을 알아보기 위하여 45-55세 여성(평균 연령 48.89 $\pm$ 3.64세, 신장 156.27 $\pm$ 4.77 cm, 체중 60.90 $\pm$ 6.89 Kg, BMI 24.96 Kg/$m^2$) 105명을 대상으로 갱년기 증상의 유ㆍ무에 관한 사항, 신체계측 및 식이섭취 상태등에 관한 조사와 혈중 총항산화능을 비롯한 생화학적 지표들을 측정하였다.(중략)