• Journal of Veterinary Clinics
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• v.32 no.3
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• pp.263-267
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• 2015

Three dogs having adrenal masses detected on ultrasonographic examination were underwent computed tomography (CT) for surgery. After adrenalectomy, each mass was diagnosed pheochromocytoma with myelolipoma, adrenocortical carcinoma and adrenal adenoma through histopathology. Five minutes were used to get delayed enhanced CT images. Attenuation value was measured in each mass and the absolute and relative percentage of enhancement washout were calculated.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.57-61
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• 2016

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.29-35
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• 2020

Joubert syndrome (JS) is a rare genetic disorder that is characterized by ataxia, hypotonia, developmental delay, respiratory abnormalities such as apnea-hyperpnea, and abnormal eye movements. The pathognomonic diagnostic finding is the "molar tooth sign" (MTS) on brain magnetic resonance imaging (MRI), described as cerebellar vermis hypoplasia or dysplasia, thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. JS is characterized by genetic heterogeneity: pathogenic variants in over 30 genes have been identified to date. The CEP290 protein, which is on chromosome 12q21.3, is most frequently mutated in patients with JS, especially with renal involvement. Here, we report a case of JS in a 14-year-old male patient with end-stage renal disease. To the best of our knowledge, this is the first Korean report of a patient with JS due to CEP290 mutation (c.6012-12T> A) whose diagnosis was confirmed after repetitive MRI. We suggest consultation with an experienced neuro-radiologist and follow-up MRI studies to detect a "hidden" MTS if clinical findings suggest a diagnosis of JS. Furthermore, even in the absence of an MTS, whole exome sequencing should be considered.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.3
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• pp.456-463
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• 2009

Cleidocranial dysplasia(CCD) is a congenital disorder of skeletal and dental abnormality, which is a mesodermal dysfunction influencing many tisssues and organs. Skeletal abnormalities in CCD are delayed closure of cranial suture and fontanelle, presence of wormian bone and clavicle aplasia. CCD also has an effect on long bones, phalanges, spine, pelvis, muscles, and central nervous system. Dental manifestations include retention of deciduous teeth, multiple supernumerary teeth, delayed eruption or impaction of permanent teeth and formation of cysts around nonerupted teeth. However, due to lack of any substansive medical or physical disability, diagnosis is often late, thereby causing masticatory and psychological problems caused by delayed eruption of permanent teeth after exfoliation of deciduous teeth. For this reason, CCD requires early diagnosis, and the patient's appearance must be improved. Also, provision for a functional masticatiory mechanism by treatment of surgical removal of supernumerary teeth followed by orthodontic eruption of the natural permanent teeth at an adequate time is necessary.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Journal of the Korean Society of Radiology
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• v.81 no.2
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• pp.379-394
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• 2020

Purpose To design a scoring system to predict malignancy of additional MRI-detected lesions in breast cancer patients. Materials and Methods Eighty-six lesions (64 benign and 22 malignant) detected on preoperative MRI of 68 breast cancer patients were retrospectively included. The clinico-radiologic features were correlated with the histopathologic results using the Student's t-test, Fisher's exact test, and logistic regression analysis. The scoring system was designed based on the significant predictive features of malignancy, and its diagnostic performance was compared with that of the Breast Imaging-Reporting and Data System (BI-RADS) category. Results Lesion size ≥ 8 mm (p < 0.001), location in the same quadrant as the primary cancer (p = 0.005), delayed plateau kinetics (p = 0.010), T2 isointense (p = 0.034) and hypointense (p = 0.024) signals, and irregular mass shape (p = 0.028) were associated with malignancy. In comparison with the BI-RADS category, the scoring system based on these features with suspicious non-mass internal enhancement increased the diagnostic performance (area under the receiver operating characteristic curve: 0.918 vs. 0.727) and detected three false-negative cases. With this scoring system, 22 second-look ultrasound examinations (22/66, 33.3%) could have been avoided. Conclusion The scoring system based on the lesion size, location relative to the primary cancer, delayed kinetic features, T2 signal intensity, mass shape, and non-mass internal enhancement can provide a more accurate approach to evaluate MRI-detected lesions in breast cancer patients.

• Journal of Korean Academy of Nursing
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• v.30 no.4
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• pp.1078-1087
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• 2000

The purpose of this study was to develop and to evaluate the Computerized Nursing Diagnosis/ Intervention System for Nutritional and Eliminative Problems for clinical application. Each stage was processed based on the System Development Life Cycle. At the Strategy Planning Stage, valid nursing diagnoses and interventions were chosen. At the System Analysis Stage, a nursing diagnosis and intervention flowchart was drawn up. At the System Design Stage, a system was developed based on the flowchart and named the Nursing Diagnosis/Intervention System. The Nursing Diagnosis/Intervention System consisted of the Patient's Basic Information, Patient's Nursing Process, Nursing Process, and Code Registration. Each element in flowchart was coded and made into a database. The System was used and evaluated. A total of 30 cases were collected. After the application, the nurses evaluated the System using a 5 point Likert scale. Every item was scored at three points or more and 13 out of 17 items were scored at four points or more, thus the Nursing Diagnosis/Intervention System that was developed in this study was regarded as a useful one.

• The Journal of the Korean bone and joint tumor society
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• v.11 no.2
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• pp.183-187
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• 2005

The typical radiologic findings of a small radiolucent nidus with surrounding sclerosis and night pain responding to aspirin make the diagnosis of osteoid osteoma not too difficult. We report a case of multicentric osteoid osteoma with unusual clinical and imaging features which were strongly suggestive of subacute sclerosing osteomyelitis.

• Journal of Chest Surgery
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• v.37 no.9
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• pp.805-808
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• 2004

A 69-year-old man was admitted due to blood-tinged sputum. The preoperative examination revealed 5${\times}$2.8cm sized nodular mass on left upper lobe of the lung. The patient underwent left upper lobectomy and radical Iymph node dissection under impression of lung cancer. Postoperative pathologic examination revealed as primary choriocarcinoma of the lung. The patient expired at postoperative 58 days despite meticulous postoperative care. We planned on immediate adjuvant chemotherapy but was delayed due to postoperative pneumonia and the choriocarcinoma progressed rapidly. Primary choriocarcinoma is an extremely rare clinical entity in lung cancer with no established therapeutic guidelines available. We report a case of the primary pulmonary choriocarcinoma which was diagnosed postoperatively.