Biomedical subjects

Sang Cheol Kim

Publications and source records attributed to Sang Cheol Kim.

7 recordsLinked to original sources

PubMed2026

Comparative whole-exome sequencing of ambulatory patients and transplant recipients with idiopathic dilated cardiomyopathy.

BACKGROUND: Idiopathic dilated cardiomyopathy (DCM) is a major cause of advanced heart failure and heart transplantation (HTx), yet the genetic correlates of progression to HTx and transplant-relevant arrhythmic phenotypes remain incompletely defined. We examined the genetics of idiopathic DCM in a Korean population, focusing on HTx/death and arrhythmic outcomes, to identify adverse outcome-linked genotype-phenotype associations. METHODS: Whole-exome sequencing was performed in 202 Korean patients with idiopathic DCM, including 56 HTx recipients and 146 ambulatory patients, and compared the findings with 1093 population-based controls. Genotype-phenotype correlations were analyzed for major clinical outcomes, including HTx, death, arrhythmias, and left ventricular functional recovery. RESULTS: Pathogenic/likely pathogenic variants were identified in 32% of patients (38% in HTx vs 30% in ambulatory patients). TTN was the most frequently affected gene overall (12%), but LMNA variants predominated in HTx recipients (20% vs 4%, p = 0.001). LMNA carriers showed substantially higher odds of HTx/death (OR 14.65, 95% CI 3.32-139.31; FDR p<0.001), and strong association with arrhythmias, including ventricular tachyarrhythmias and atrial fibrillation. Both missense and loss-of-function LMNA variants were associated with adverse outcomes. In contrast, TNNT2 variants were observed exclusively in ambulatory patients and identified a favorable functional-recovery phenotype, with a greater likelihood of LVEF recovery ≥10 percentage points (OR 6.03, 95% CI 1.52-28.71; FDR p = 0.016). CONCLUSIONS: LMNA variants mark a high-risk transplant-trajectory phenotype in Korean idiopathic DCM. Genetic testing may aid early identification and management of candidates for advanced HF therapies, including HTx and durable MCS.

dilated cardiomyopathy↗

PubMed2006

Impact of transcriptional properties on essentiality and evolutionary rate.

We characterized general transcriptional activity and variability of eukaryotic genes from global expression profiles of human, mouse, rat, fly, plants, and yeast. The variability shows a higher degree of divergence between distant species, implying that it is more closely related to phenotypic evolution, than the activity. More specifically, we show that transcriptional variability should be a true indicator of evolutionary rate. If we rule out the effect of translational selection, which seems to operate only in yeast, the apparent slow evolution of highly expressed genes should be attributed to their low variability. Meanwhile, rapidly evolving genes may acquire a high level of transcriptional variability and contribute to phenotypic variations. Essentiality also seems to be correlated with the variability, not the activity. We show that indispensable or highly interactive proteins tend to be present in high abundance to maintain a low variability. Our results challenge the current theory that highly expressed genes are essential and evolve slowly. Transcriptional variability, rather than transcriptional activity, might be a common indicator of essentiality and evolutionary rate, contributing to the correlation between the two variables.

Animals↗

PubMed2006

Systematic analysis of cDNA microarray-based CGH.

cDNA microarray-based CGH (Microarray-CGH) is a useful technique for detecting genomic aberrations with a high resolution. However, the criteria for determining a genomic alteration have not been determined. We evaluated the genome-wide measurement of copy number of each gene in normal gastric and placenta tissues with both sex-matched, direct and sex-mismatched, indirect designs using 17K cDNA microarray. The results revealed the range of genomic copy number of normal tissues to be +/-0.3 of the log(2) ratio (gain >0.3, loss <-0.3) in the autosomal genes with direct and indirect designs. The copy number at a gene level from the X chromosomal genes using the direct and indirect sex-mismatched designs was +/-0.68 of the log(2) ratio (amplification >0.68, deletion <-0.68). In summary, the suggested method can be used as a guideline for analysis of genomic aberration using a Microarray-CGH in both direct and indirect designs.

Chromosomes, Human↗

PubMed2005

Unilateral mandibular widening with distraction osteogenesis.

Mandibular widening with distraction osteogenesis (DO) has been shown to be an acceptable and stable treatment modality. Mandibular widening with DO is useful in relieving crowding and for restoring a rotated mandibular arch segment to its original condition. This is especially true when a patient has a unilateral medial displacement of the proximal segment of the mandible or a unilateral Brodie bite. This case report shows the application of mandibular widening with DO for skeletal reconstruction and prosthodontic preparation in a patient with unilateral medial displacement of the proximal segment of the mandible. The design of the osteotomy line and the placement of the distractor must be taken into consideration in a detailed procedure for unilateral mandibular widening of the mandible.

Adult↗

PubMed2004

Preserving level IIb lymph nodes in elective supraomohyoid neck dissection for oral cavity squamous cell carcinoma.

OBJECTIVE: To determine whether level IIb lymph nodes can be saved in elective supraomohyoid neck dissection (SOHND) as a treatment for patients with squamous cell carcinoma of the oral cavity. DESIGN: Prospective analysis of a case series. SETTING: University hospital. PATIENTS AND INTERVENTIONS: From 1997 to 2001, 74 patients with squamous cell carcinoma of the oral cavity and with no palpable lymph nodes at the neck who underwent an elective SOHND were prospectively studied. MAIN OUTCOME MEASURES: The incidence of pathological metastasis to level IIb lymph nodes and the regional recurrence within this area after elective SOHND was performed were evaluated. RESULTS: Of the 74 patients, 24 (32%) had lymph nodes positive for microscopic metastatic squamous cell carcinoma. Four (5%) of the 74 patients had involvement of level IIb lymph nodes. There was no instance of isolated metastasis to level IIb lymph nodes without involvement of other nodes in the SOHND specimens. There were 6 cases of the ipsilateral neck recurrences, and of these, 2 patients (3% of all patients) developed recurrences in the level II lymph nodes. CONCLUSIONS: Level IIb lymph node metastasis was rare in this study, and nodal recurrence in this area after SOHND in squamous cell carcinoma of the oral cavity was infrequent. Therefore, this region may be preserved in elective SOHND in patients with squamous cell carcinoma of the oral cavity.

Adolescent↗

PubMed2004

Effects of methanol extract of Cirsium japonicum var. ussuriense and its principle, hispidulin-7-O-neohesperidoside on hepatic alcohol-metabolizing enzymes and lipid peroxidation in ethanol-treated rats.

Effects of the methanol extract of Cirsium japonicum var. ussuriense and hispidulin 7-O-neohesperidoside isolated from the plant on hepatic alcohol-metabolizing enzymes and lipid peroxidation were studied in rats treated with ethanol. Rats treated with 10% alcohol solution for 6 weeks were orally administered with 250 or 500 mg of methanol extract or 10 or 20 mg of hispidulin 7-O-neohesperidoside per kg body weight daily during the last week of ethanol treatment. The administration of the methanol extract of herbal plant and hispidulin 7-O-neohesperidoside in ethanol-treated rats significantly enhanced the activities of hepatic alcohol dehydrogenase, microsomal ethanol-oxidizing system and aldehyde dehydrogenase in a dose-dependent manner. The extract and the compound decreased hepatic lipid peroxidation along with an increase in hepatic content of reduced glutathione. The methanol extract and hispidulin 7-O-neohesperidoside of C. japonicum var. ussuriense also increased the activity of glutathione reductase, but had no effect on gamma-glutamylcysteine synthase. The results suggest that C. japonicum var. ussuriense may alleviate alcoholic toxicity by enhancing ethanol oxidation as well as inhibiting lipid peroxidation, and hispidulin 7-O-neohesperidoside is one of the active substances responsible for the protective effects of this plant.

Administration, Oral↗

PubMed2004

The pattern of gene copy number changes in bilateral breast cancer surveyed by cDNA microarray-based comparative genomic hybridization.

The nature of genetic alterations in bilateral breast cancer (BBC) associated with the distinctive development of a second primary tumor or a metastatic lesion is not clearly established. In this study, patterns of promoter methylation and gene copy number changes were assessed for their utility in the distinction of two types of BBC (synchronous and metachronous). Seven cases of synchronous and five cases of metachronous breast cancer tissues were used in X chromosome inactivation assay to assess the methylation pattern of human androgen receptor gene. X chromosome inactivation assay alone did not provide enough information to distinguish the genetic origins of synchronous and metachronous BBC. When four pairs of paraffin-embedded BBC tissues were used in cDNA array-based CGH with placenta DNA as a reference, higher DNA copy number changes were observed from metachronous pairs (9.0%) than from synchronous pairs (3.1%). From the two cases of metachronous pairs tested, 44 genes were found to be commonly modulated in gene copy numbers in a cancer detected later.

Breast Neoplasms↗