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1.  Different frequency of the absence of the palmaris longus according to assessment methods in a Korean population 
Anatomy & Cell Biology  2012;45(1):53-56.
The palmaris longus (PL) is a slender, spindle-shaped weak flexor of the wrist. Congenital absence of the PL is estimated to occur in 15% among individuals worldwide. However, the frequency of its absence varies considerably among different population groups and with different detection techniques. In the present study, the presence of the PL tendon was examined in a Korean population (n=269) using three clinical tests, namely the Traditional Test, Mishra's Test II, and the Gangata Test. We classified subjects into six types based on whether inspection or palpation was required to determine the presence of the PL and flexor carpi radialis. The most reliable test was determined using Kendall's coefficient of concordance. Our results showed that the PL tendon was absent in 4.1% of the subjects in our study, and bilateral and unilateral absences were 2.2% and 1.8%, respectively. Statistical analysis revealed that these tests had similar reliability for assessing the PL tendon, and the Traditional Test showed the highest effectiveness, at 93%. Therefore the Traditional Test was found to be the most effective for revealing the PL in this Korean population.
doi:10.5115/acb.2012.45.1.53
PMCID: PMC3328741  PMID: 22536552
Palmaris longus; Flexor carpi radialis; Variation
2.  Haddad Syndrome with PHOX2B Gene Mutation in a Korean Infant 
Journal of Korean Medical Science  2011;26(2):312-315.
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. We report a newborn male infant with clinical manifestations of recurrent hypoventilation with hypercapnea and bowel obstruction. These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation. We described a first case of Haddad syndrome in Korean and its clinical and genetic characteristics were discussed.
doi:10.3346/jkms.2011.26.2.312
PMCID: PMC3031022  PMID: 21286029
Congenital Central Hypoventilation Syndrome; Hirschsprung Disease; Haddad Syndrome; PHOX2B gene
3.  A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene 
Journal of Korean Medical Science  2007;22(6):998-1001.
The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype observed in this syndrome is caused by mutation in the WAS gene. Peripheral blood DNAs were isolated from an 18-month-old boy with WAS and his mother, maternal uncle, and maternal grandmother. Genetic analysis for the detection of a mutation of WAS gene was performed by polymerase chain reaction-single strand conformational polymorphism analysis (PCR-SSCP) and direct sequencing of the PCR product. In PCR-SSCP, the patient and his maternal uncle had an abnormal shift band, which was not found in normal controls, and his mother and maternal grandmother showed heterozygous bands. In direct sequencing analysis, the patient with WAS had CGC→CAC point mutation in exon 2 that resulted in an amino acid change in codon 86 (Arg86His). The present study identified a gene mutation responsible for WAS at a mutation hotspot of the WAS gene in a Korean family.
doi:10.3346/jkms.2007.22.6.998
PMCID: PMC2694638  PMID: 18162713
Wiskott-Aldrich Syndrome; Mutation Analysis; Wiskott-Aldrich Syndrome Protein; Neuronal
4.  Analysis of Loss of Heterozygosity in Korean Patients with Keratoacanthoma 
Journal of Korean Medical Science  2005;20(2):340-343.
Loss of heterozygosity (LOH) has been established as an important genetic mechanism giving rise to malignant neoplasia. The mechanism of LOH has been shown to cause basal cell carcinoma and malignant melanoma as well as other types of skin cancer. A few studies on LOH in sporadic keratoacanthomas have been reported. The purpose of this study was to investigate the significance of LOH in the pathogenesis of sporadic keratoacanthomas developed in 10 Korean patients. The presents of LOH at 7 microsatellite markers (D2S286, D3S1317, D5S346, D9S160, D9S171, D10S185, and D17S261) were evaluated in sporadic keratoacanthomas. LOH was found in only 1 of 10 cases at D10S185. The low frequency of LOH detected in this study suggests that LOH may not be significant in the induction of sporadic keratoacanthomas.
doi:10.3346/jkms.2005.20.2.340
PMCID: PMC2808619  PMID: 15832014
Loss of Heterozygosity; Keratoacanthoma
5.  Genetic Characteristics of Mitochondrial DNA Was Associated with Colorectal Carcinogenesis and Its Prognosis 
PLoS ONE  2015;10(3):e0118612.
Clinical value of mitochondrial DNA has been described in colorectal cancer (CRC). To clarify its role in colorectal carcinogenesis, mitochondrial microsatellite instability (mtMSI) and other markers were investigated in CRCs and their precancerous lesions, as a multitier genetic study. DNA was isolated from paired normal and tumoral tissues in 78 tubular adenomas (TAs), 34 serrated polyps (SPs), and 100 CRCs. mtMSI, nucleus microsatellite instability (nMSI), KRAS mutation, and BRAF mutation were investigated in these tumors and their statistical analysis was performed. mtMSI was found in 30% of CRCs and 21.4% of precancerous lesions. Mitochondrial copy number was higher in SPs than TAs and it was associated with mtMSI in low grade TAs. KRAS and BRAF mutations were mutually exclusive in TAs and SPs. CRCs with mtMSI showed shorter overall survival times than the patients without mtMSI. In CRCs without nMSI or BRAF mutation, mtMSI was a more accurate marker for predicting prognosis. The genetic change of mitochondrial DNA is an early and independent event in colorectal precancerous lesions and mtMSI and mitochondrial contents are associated with the tubular adenoma-carcinoma sequence, resulting in poor prognosis. This result suggested that the genetic change in mitochondrial DNA appears to be a possible prognosis marker in CRC.
doi:10.1371/journal.pone.0118612
PMCID: PMC4348484  PMID: 25734426
6.  The double retro-aortic left renal vein 
Anatomy & Cell Biology  2012;45(4):282-284.
The renal veins drain the kidney into the inferior vena cava and unite in a variable fashion to form the renal vein. The left renal vein is normally located in front of the aorta. However, the retro-aortic renal vein may course posterior to the aorta due to embryological developmental anomalies. During educational dissection, a rare variation of the left renal vein was found in a 66-year old male cadaver. The double retro-aortic renal veins coursed behind the aorta to drain into the inferior vena cava. The superior retro-aortic renal vein drained into the inferior vena cava at the lower border of the L2 vertebra, and the inferior retro-aortic renal vein drained into the inferior vena cava at the upper border of the L4 vertebra. Such a variant is rare, and is a clinically important observation which should be noted by vascular surgeons, oncologists, and traumatologists.
doi:10.5115/acb.2012.45.4.282
PMCID: PMC3531592  PMID: 23301196
Renal veins; Variation; Retro-aortic
7.  Bilateral variations of the head of the digastric muscle in Korean: a case report 
Anatomy & Cell Biology  2011;44(3):241-243.
The digastric muscle, as the landmark in head and neck surgery, has two bellies, of which various variations have been reported. In the submental region of a 72-year-old Korean male cadaver, bilateral variations were found in the anterior belly of the digastric muscle. Two accessory bellies, medial to the two normal anterior bellies of the digastric muscle, ran posterior and medially, merging and attaching at the mylohyoid raphe of the mylohyoid muscle. The 3rd accessory belly originated from the right intermediate tendon and ran horizontally, merging the right lower bundle of the right accessory belly and inserted together. These accessory bellies had no connection with the left anterior belly. This unique variation has not been reported in the literature previously, and this presentation will guide clinicians during surgical interventions and radiological diagnoses.
doi:10.5115/acb.2011.44.3.241
PMCID: PMC3195829  PMID: 22025977
Digastric muscle; Anterior belly; Variation
8.  Fluid Attenuated Inversion Recovery (FLAIR) Imaging of the Normal Brain: Comparisons between Under the Conditions of 3.0 Tesla and 1.5 Tesla 
Korean Journal of Radiology  2009;11(1):19-24.
Objective
The aim of this study was to evaluate the differences in normal brain MRI findings between under 3.0 Tesla (T) and 1.5T MRI conditions with the use of the fluid attenuated inversion recovery (FLAIR) sequences.
Materials and Methods
Eleven normal adults underwent imaging with the use of the FLAIR sequences on both 1.5T and 3.0T scanners. Two neuroradiologists compared the signal intensity (SI) of the centrum semiovale (CS), pulvinar thalami (PT) and normal iron deposit structures (IDSs) on the 3.0T and 1.5T FLAIR images, and they evaluated three MRI findings qualitatively: high SI of CS; low SI of PT; low SI of IDS. We also evaluated signal-to-noise ratios (SNRs) for the CS, PT, red nucleus and cerebellar dentate nucleus on the FLAIR images.
Results
Based on qualitative analyses, the 3.0T FLAIR images showed all three MRI findings for all cases. Low SI for the PT in seven cases (64%), high SI of the CS in one case (9%) and low SI of the cerebellar dentate nucleus in one case (9%) were visualized only on 3.0T FLAIR images. The mean SNRs of the PT, red nucleus and dentate nucleus in patients where 3.0T FLAIR imaging was performed were significantly lower as compared with the SNRs on 1.5T FLAIR images. The SNR of the CS was not significantly different between under the two magnetic field strengths (p > 0.05).
Conclusion
We have demonstrated that normal, high and low SIs of the CS, PT and IDS on 3.0T FLAIR images were depicted more frequently and more prominently as compared with those on 1.5T FLAIR images in normal adult brains.
doi:10.3348/kjr.2010.11.1.19
PMCID: PMC2799645  PMID: 20046491
Magnetic resonance (MR); Fluid attenuated inversion recovery (FLAIR); Normal Brain; 3.0 Tesla

Results 1-8 (8)