Biomedical subjects

M S Shin

Publications and source records attributed to M S Shin.

At least 37 records · Page 2Linked to original sources

PubMed2001

Neural network based automatic diagnosis of children with brain dysfunction.

This paper proposes the use of multilayer perceptron for brain dysfunction diagnosis. The performance of MLP was better than that of Discriminant Analysis and Decision Tree classifiers, with an 85% accuracy rate in an experimental test involving 332 subjects. In addition, the neural network employing Bayesian learning was able to identify the most important input variable. These two results demonstrate that the neural network can be effectively used in the diagnosis of children with brain dysfunction.

Attention Deficit Disorder with Hyperactivity↗

PubMed2001

Comparative study of the behavioral and neuropsychologic characteristics of tic disorder with or without attention-deficit hyperactivity disorder (ADHD).

To study the nature of the comorbidity of tic disorder and attention-deficit hyperactivity disorder (ADHD), patients with tic disorder with or without ADHD were compared on the basis of clinical ratings and neuropsychologic tests. Seventy-eight children were involved in this study: 16 with tic disorder, 19 with comorbid tic disorder and ADHD, 21 with ADHD, and 22 normal controls. Rating scales for ADHD, the Child Behavior Checklist and the Yale Global Tic Severity Scale, were completed in clinical groups. To identify differences in neuropsychologic function among the four groups, the results of seven neuropsychologic tests of global cognitive abilities, attention, information-processing capacity, and fine motor skill were compared. On most behavioral and neuropsychologic tests, the tic disorder with ADHD and the ADHD groups demonstrated similar performance patterns and marked deficits compared with the tic disorder and the control groups, whereas in most of the attention tests, the ADHD group made more commission errors than the tic disorder with ADHD group. These findings suggest that the tic disorder with ADHD group has marked cognitive deficits and behavioral disturbance similar to the ADHD group, whereas the tic disorder group is more similar to the controls. The tic disorder with ADHD group might represent a true comorbidity of the two disorders.

Adolescent↗

PubMed2001

Therapeutic embolization of the dural arteriovenous malformation involving the jugular bulb.

Pulsatile tinnitus is a rarely occurring symptom of vascular origin. Most frequently, the symptoms are due to an arteriovenous malformation, to a tumor of the jugular glomus or to a local arterial stenosis. A 39-yr-old Korean male suffering from pulsatile tinnitus of the left ear was diagnosed to have dural arteriovenous malformation of the jugular bulb. Magnetic resonance imaging and angiography revealed a high-velocity vascular lesion encroaching the internal jugular vein and sigmoid sinuses. Digital subtraction angiography demonstrated a dural arteriovenous malformation involving the jugular bulb. The arterial supply was from the neuromeningeal branch of the left ascending pharyngeal artery and inferior tympanic artery. Stenosis of the left jugular vein caused retrograde venous drainage through the contralateral transverse sinus. Superselective embolization of these feeding arteries was successfully performed using 25% mixture of N-butylcyanoacrylate and lipiodol. In postembolization period, his complaints of pulsatile tinnitus and buzzing noise behind his left ear disappeared.

Adult↗

PubMed2000

Mapping of a new target region of allelic loss at 21q22 in primary gastric cancers.

To determine the minimal region of deletion on 21q22 in gastric cancer, we performed a high-density loss of heterozygosity (LOH) study with eight polymorphic microsatellite markers. Among the 43 tumors examined, 20 (50%) of 40 informative carcinomas showed LOH at one or more loci. The peak LOH frequency was identified at D21S1820 (34.2%) in 21q22.3. This data suggests that this locus might harbor a new tumor suppressor gene in an area <0.332 Mb in physical map distance defined by D21S1820 and D21S49. Thus, we speculate that trefoil factor family 1 (TFF1), located in this narrow region, might be the most probable candidate gene involved in gastric cancer carcinogenesis.

Adenocarcinoma↗

PubMed2000

A distinct tumor suppressor gene locus on chromosome 15q21.1 in sporadic form of colorectal cancer.

The SM1311 family is an Ashkenazi family with dominantly inherited predisposition to colorectal adenomas and carcinomas and has a high-penetrance locus in chromosome 15q, with a multipoint logarithm of the odds score of 3.06 at marker D15S118. In the present study, we performed a high-density loss of heterozygosity study with 13 polymorphic microsatellite markers, including D15S118, spanning 15q15.3-q22.1, on 70 cases of the sporadic form of colorectal tumors. Our deletion mapping data showed a locus at D15S968 in chromosomal sub-band 15q21.1 may harbor a tumor suppressor gene in an area <0.521 Mb in physical map distance defined by markers D15S514 and D15S222. THBS1, 0.185 Mb proximal to D15S968, is the nearest known gene to this specific narrow loss of heterozygosity region. Thus, we speculate that THBS1 might be the most probable candidate gene involved in colorectal cancer carcinogenesis.

Adenocarcinoma↗

PubMed2000

A co-operative study: clinical characteristics of 334 Korean patients with moyamoya disease treated at neurosurgical institutes (1976-1994). The Korean Society for Cerebrovascular Disease.

A co-operative study was conducted to determine the clinical characteristics of patients with moyamoya disease who were diagnosed and treated at neurosurgical institutes in Korea before 1995. Twenty-six hospitals contributed 505 cases and among them, the clinical characteristics of 334 patients with definite moyamoya disease were evaluated. The number of patients began to increase from the late 1980s, and after that approximately 20 patients were treated each year. There were two age peaks: from six to 15 and from 31 to 40 years of age. Haemorrhagic manifestations occurred in approximately 43% of the patients. The major clinical manifestations were haemorrhage in adults (62.4%) and ischaemia in children (61.2%). Overall 54.5% of the patients experienced decreased consciousness levels, mainly due to intracranial haemorrhage or cerebral infarction. In the patients with ischemic manifestations, the adult patients were more likely to have cerebral infarction than the pediatric patients (80% vs. 39%) and the pediatric patients were more likely to have TIA (61% vs. 25%). Thirty eight percent of the patients underwent bypass surgery and 53% of these procedures were performed bilaterally. Treatment policies, including indications for bypass surgery and commonly used drugs, were somewhat different according to the institution. Overall favorable outcome was 73%, and the most significant factor affecting poor outcome was haemorrhagic manifestation. This article describes the characteristics of 334 patients with moyamoya disease, who were diagnosed and treated at neurosurgical institutes in Korea before 1995.

Adolescent↗

PubMed2000

Absence of mutations in the kinase domain of the Met gene and frequent expression of Met and HGF/SF protein in primary gastric carcinomas.

Hepatocyte growth factor/scatter factor (HGF/SF) and its receptor, Met, are known to play important roles in tumor cell migration, invasion, and metastasis. We analyzed the expression of these genes and the mutations in the kinase domain of the Met gene in 43 gastric carcinomas. Of the 43 cases, the Met and HGF/SF protein were expressed in 29 (67%) and 22 (51%), respectively. All of the cases with HGF/SF immunopositivity also expressed Met. Of 22 cases with HGF/SF immunopositivity, 13 (59%) expressed HGF/SF in tumor cells as well as fibroblasts. We detected no aberrant single-strand conformational polymorphism patterns, suggesting that there are no genetic alterations in the kinase domain of the Met gene. These results indicate that HGF/SF-mediated autocrine and/or paracrine stimulation and overexpression rather than structural alteration of its receptor may contribute to the development and progression of gastric carcinoma, and that expression of Met and HGF/SF may confer a growth advantage to neoplastic cells.

Adenocarcinoma↗

PubMed2000

Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.

Fas (Apo-1/CD95) is a cell-surface receptor involved in cell death signaling, and recent reports have suggested that defects within the Fas receptor pathway such as Fas mutation play an important part in the development and progression of human tumors. Burn scar-related squamous cell carcinoma of skin is a unique subtype of cutaneous squamous cell carcinoma, and tends to be more aggressive in nature than conventional squamous cell carcinoma. The molecular mechanisms underlying the development and progression of burn scar-related squamous cell carcinoma, however, are not clear. In this study, we analyzed the entire coding region and all splice sites of the Fas gene for the detection of the somatic mutations in a series of 50 conventional squamous cell carcinomas and 21 burn scar-related squamous cell carcinomas by polymerase chain reaction, single strand conformation polymorphism, and DNA sequencing. We detected mis-sense mutations in three of 21 burn scar-related squamous cell carcinomas (14.3%), whereas no mutation was detected in 50 conventional squamous cell carcinomas. Of the three Fas mutations detected in the burn scar-related squamous cell carcinomas, one was found in Fas ligand-binding domain, another one was identified in the death domain known to be involved in the transduction of an apoptotic signal, and the other one was found in the transmembrane domain. Our data show that some burn scar-related squamous cell carcinomas have Fas gene mutations in important regions for the apoptosis function and suggest that these mutations might be involved in the pathogenesis of burn scar-related squamous cell carcinomas. In addition, our results provide an important clue to understanding the difference between burn scar-related squamous cell carcinoma and conventional squamous cell carcinoma at the molecular level.

Adolescent↗

PubMed2000

Somatic mutations of the trefoil factor family 1 gene in gastric cancer.

BACKGROUND & AIMS: There is increasing evidence that trefoil factor family 1 (TFF1) is a stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. TFF1 knockout mice developed multiple gastric adenomas and carcinomas, suggesting that TFF1 is a gastric-specific tumor-suppressor gene. METHODS: We analyzed the somatic mutations and loss of heterozygosity (LOH) of the TFF1 gene using an intragenic polymorphic marker in 61 gastric tumors. The expression pattern of TFF1 was also examined by immunohistochemistry. RESULTS: We detected a total of 8 somatic mutations-1 (5.5%) of 18 adenomas and 7 (16.3%) of 43 carcinomas-that were all missense mutations confined to the loop I and loop II structure of TFF1. We detected LOH in 5 (1 in adenoma and 4 in cancer) of 30 (16.7%) informative gastric tumors with an intragenic polymorphic marker -2 base pairs (bp) upstream of the coding region of the TFF1 gene. Although 2 cases were noninformative, the 7 gastric cancers with mutation seemed to show the loss of the remaining allele except in 1 case, suggesting that TFF1 is a tumor-suppressor gene. We found loss of TFF1 expression in 44.2% of the gastric carcinomas, but there is no correlation between immunoreactivity and genetic alterations of the TFF1 gene. CONCLUSIONS: These results indicate that genetic alterations of TFF1 may lead to gastric mucosal barrier defects and contribute to the pathogenesis of gastric cancer.

Adult↗

PubMed2000

Assessment of elastic properties of the descending thoracic aorta by transesophageal echocardiography with acoustic quantification in patients with a stroke.

Previous studies have described the use of transesophageal echocardiography (TEE) with acoustic quantification (AQ) in assessing aortic elastic properties. We hypothesized that patients with a prior history of stroke (ST) may have a higher risk of atherosclerotic change in great vessels compared to nonstroke subjects (NST) and thus have decreased elastic properties. We assessed the elastic properties of the descending thoracic aorta (DTA) by TEE in ST patients and compared them with data in NST patients. Subjects included 31 with ST without any evidence of emboli originating from the heart (age 51 +/- 10 years, M:F = 20:11) and 25 age-matched NST (M:F = 8:17). Patients with significant valvular heart disease including aortic and mitral regurgitation, left ventricular dysfunction (ejection fraction < 55%), and congenital heart disease were excluded. Compliance (C), distensibility (D), and stiffness index (SI) were measured using AQ and M-mode measurement at a level of the left atrium. We scored atherosclerotic risk factors (ARF) such as a history of diabetes, hypertension, smoking, hypercholesterolemia, and the presence of atheroma of DTA. There was no evidence of atheroma of DTA in NST. There were no significant differences in heart rate and systolic and diastolic blood pressure between ST and NST patients. Fractional area change (FAC) of DTA was significantly lower in ST than in NST patients (3.2 +/- 1.6 vs 5.4 +/- 2.5%, P = 0.000). ST patients had significantly lower C (1.2 +/- 0.4 vs 1.5 +/- 0.7 x 10(-3) cm2 mmHg(-1), P = 0.039), lower D (0.8 +/- 0.3 vs 1.5 +/- 0.8 x 10(-3) mmHg(-1), P = 0.000), and higher SI (10.3 +/- 8.8 vs 5.3 +/- 2.9, P = 0.006) than NST patients. ST patients without atheroma of DTA (n = 21) also had significantly lower C (1.1 +/- 0.4 vs 1.5 +/- 0.7 x 10(-3) cm2 mmHg(-1), P = 0.038) and lower D (3.5 +/- 1.4 vs 4.8 +/- 2.4 x 10(-3) mmHg(-1), P = 0.021) than NST patients. There was a significant positive correlation between SI and the score of ARF (r = 0.51, P = 0.000). The regional elastic properties of DTA measured by TEE with AQ and M-mode method were abnormal in ST. Therefore, TEE with AQ technique may have a possible clinical application for the detection of early atherosclerotic changes such as alteration of elastic properties in morphological normal DTA.

Acoustics↗

PubMed1999

Point mutations and deletions of the Bcl10 gene in solid tumors and malignant lymphomas.

The Bcl10 gene, which encodes a protein with proapoptotic activity, recently has been identified on chromosome 1p22. In this study, we analyzed somatic mutations and deletions of the Bcl10 gene in a series of 439 tumor tissues from various histological origins that are known to have frequent loss of heterozygosity at chromosome 1p22. According to the LOH study at intragenic polymorphic sites, deletion of Bcl10 in informative cases was detected in 50% of malignant mesotheliomas, 33% of gastric carcinomas, 23% of breast carcinomas, 20% of hepatocellular carcinomas, 17% of lymphomas, 15% of colorectal carcinomas, 13% of laryngeal carcinomas, and 10% of male germ cell tumors (GCTs). In contrast, we detected Bcl10 mutations in 4 of 120 lymphomas (3.3%) and 2 of 78 GCTs (2.6%), respectively, but no mutation was found in the remaining solid tumors analyzed. Taken together, these data imply that Bcl10 may occasionally be involved in the pathogenesis of lymphoma and GCTs. However, the absence or low frequency of the mutation suggests that either Bcl10 is inactivated by other mechanisms or it is not the only target of chromosome 1p22 deletion in human tumors.

Adaptor Proteins, Signal Transducing↗

PubMed1999

Alterations of the DR5/TRAIL receptor 2 gene in non-small cell lung cancers.

Chromosome 8p21-22 is a frequent site of allelic deletions in many types of human tumors, including non-small cell lung cancer (NSCLC). Tumor necrosis factor-related apoptosis-inducing ligand-receptor 2 (TRAIL-R2) is a cell-surface receptor involved in cell death signaling. The TRAIL-R2 gene recently has been mapped to chromosome 8p21-22. To explore the possibility that the TRAIL-R2 gene might be the relevant gene to the frequent deletion of 8p21-22 in NSCLC, we have analyzed the entire coding region and all splice sites of TRAIL-R2 for the detection of the somatic mutations in a series of 104 NSCLCs. Overall, 11 tumors (10.6%) were found to have TRAIL-R2 gene mutations in the death domain known to be involved in the transduction of an apoptotic signal. Our data indicate that somatic mutation of TRAIL-R2 may play a role in the pathogenesis of some NSCLCs and that the TRAIL-R2 gene is one of the genes relevant to the frequent loss of chromosome 8p21-22 in NSCLC.

Adenocarcinoma↗

PubMed1999

Frequent somatic mutations of the beta-catenin gene in intestinal-type gastric cancer.

The increased level of cytoplasmic beta-catenin through the mutations to either beta-catenin or adenomatous polyposis coli (APC) has been proposed as an important oncogenic step in various tumors. Gastric cancer showed frequent genetic alterations of the APC gene, and the risk for gastric cancer in familial adenomatosus polyposis patients is 10 times higher than that in the general population. These findings raise the possibility that mutations of beta-catenin may also be associated with the development of gastric cancer. We detected seven somatic mutations in a portion of exon 3 encoding for the glycogen synthase kinase 3beta phosphorylation consensus region of the beta-catenin gene in 43 gastric cancers. All of these mutations were missense mutations, of which five are in the highly conserved aspartic acid 32 and two are in serine 29; all of these seven mutations were detected exclusively in intestinal-type gastric cancers (7 of 26; 26.9%), but not in the diffuse-type (0 of 17). We concluded that disruption of the APC/beta-catenin/T cell factor-lymphoid enhancer binding factor pathway might play an important role especially in the development of intestinal-type gastric cancer.

Base Sequence↗

PubMed1999

Alterations of Fas (APO-1/CD95) gene in transitional cell carcinomas of urinary bladder.

Fas (Apo-1/CD95) is a cell-surface receptor involved in cell death signaling. The key role of the Fas system in negative growth regulation has been studied mostly within the immune system, and somatic mutations of Fas in cancer patients have been described solely in lymphoid-lineage malignancies. We analyzed somatic mutations and loss of heterozygosity of Fas gene in 43 transitional cell carcinomas of urinary bladder. Overall, 12 tumors (28%) were found to have Fas mutations, including 11 missense mutations and 1 frameshift mutation. Ten of the 12 mutations were located in the death domain known to be involved in the transduction of an apoptotic signal, and 8 of these 10 mutations showed an identical G to A transition at bp 993, indicating a potential hotspot in bladder cancers. Three of eight (38%) informative tumors carrying Fas mutations showed LOH at polymorphic sites in the promoter region. This is the first report on the Fas gene mutations in nonlymphoid malignancies, and our data suggest that alterations of the Fas gene might lead to the loss of its apoptotic function and contribute to the pathogenesis of some bladder cancers.

Amino Acid Substitution↗

PubMed1999

Alterations of Fas (Apo-1/CD95) gene in non-small cell lung cancer.

Fas (Apo-1/CD95) is a cell-surface receptor involved in cell death signaling. The key role of the Fas system in negative growth regulation has been studied mostly within the immune system, and somatic mutations of Fas gene in cancer patients have been described solely in lymphoid-lineage malignancies. However, many non-lymphoid tumor cells have been found to be resistant to Fas-mediated apoptosis, which suggests that Fas mutations, one of the possible mechanisms for Fas-resistance, may be involved in the pathogenesis of non-lymphoid malignancies as well. In this study, we have analysed the entire coding region and all splice sites of the Fas gene for the detection of the gene mutations in 65 human non-small cell lung cancers by polymerase chain reaction, single strand conformation polymorphism and DNA sequencing. Overall, five tumors (7.7%) were found to have the Fas mutations, which were all missense mutations. Four of the five mutations identified were located in the cytoplasmic region (death domain) known to be involved in the transduction of an apoptotic signal and one mutation was located in the transmembrane domain. This is the first report on the Fas gene mutations in non-lymphoid malignancies, and the data presented here suggests that alterations of the Fas gene might lead to the loss of its apoptotic function and contribute to the pathogenesis of some human lung cancers.

Adenocarcinoma↗

PubMed1999

Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas.

The MET protooncogene encodes a transmembrane tyrosine kinase identified as the receptor of a polypeptide known as hepatocyte growth factor/scatter factor. We performed PCR-based single-strand conformational polymorphism and sequencing analysis of the tyrosine kinase domain of the MET gene (exon 15-19) in 75 primary liver cancers. Three missense mutations were detected exclusively in 10 childhood hepatocellular carcinomas (HCCs), while no mutations were detected in 16 adult HCCs, 21 cholangiocarcinomas, or 28 hepatoblastomas. The extremely short incubation period from hepatitis B virus infection to the genesis of childhood HCC as compared with the adult HCC suggests that there may be an additional mechanism that accelerates the carcinogenesis of childhood HCC. Our results indicate that mutations of the tyrosine kinase domain of the MET gene may be involved in the acceleration of the carcinogenesis in childhood HCC.

Adolescent↗

PubMed1999

In vivo expression of soluble Fas and FAP-1: possible mechanisms of Fas resistance in human hepatoblastomas.

Many tumour cells express both Fas and its ligand (FasL) on their surface and it has remained a mystery why such cells do not simply kill themselves. It remains to be determined whether Fas and FasL are expressed in human hepatoblastomas and if so, what is responsible for the possible Fas resistance of these tumours. In this study, the expression of Fas and FasL was examined in 23 cases of human hepatoblastoma by immunohistochemical staining. To elucidate possible Fas resistance in hepatoblastomas, Fas-resistance pathways including the expression of bcl-2 and Fas-associated phosphatase-1 (FAP-1), and the expression of soluble Fas (sFas) mRNA, were analysed by immunohistochemistry and in situ reverse transcription-polymerase chain reaction (in situ RT-PCR). Fas gene mutation in the death domain was also examined. Fas and FasL were expressed in all hepatoblastomas analysed. Twenty (87 per cent) and 18 (78 per cent) cases of hepatoblastoma were positive for sFas mRNA and FAP-1, respectively, but none of the hepatoblastomas expressed bcl-2. Mutation in the death domain of the Fas gene was not found in hepatoblastomas. Taken together, these findings demonstrated that Fas, a death receptor, and its ligand are co-expressed in hepatoblastomas in vivo, but some inhibitors of Fas-mediated apoptosis are also expressed in these tumours. These results suggest that it is probably due to the action of inhibitory molecules of the Fas pathway that the tumour cells of hepatoblastomas do not kill themselves in an autocrine-driven cycle and that in this manner hepatoblastomas avoid apoptosis.

Apoptosis↗

PubMed1999

Alterations of Fas (Apo-1/CD95) gene in cutaneous malignant melanoma.

Fas (Apo-1/CD95) is a cell-surface receptor involved in cell death signaling. The key role of the Fas system in negative growth regulation has been studied mostly within the immune system, and somatic mutations of Fas gene in cancer patients have been described solely in lymphoid-lineage malignancies. However, many nonlymphoid tumor cells have been found to be resistant to Fas-mediated apoptosis, which suggests that Fas mutations, one of the possible mechanisms for Fas resistance, may be involved in the pathogenesis of nonlymphoid malignancies as well. In this study, we have analyzed the entire coding region and all splice sites of the Fas gene for the detection of the gene mutations in 44 human malignant melanomas in skin by polymerase chain reaction, single-strand conformation polymorphism, and DNA sequencing. Overall, 3 tumors (6.8%) were found to have the Fas mutations, which were all missense variants and identified in the cytoplasmic region (death domain) known to be involved in the transduction of an apoptotic signal. The data presented here suggest that somatic alterations of the Fas gene might lead to the loss of its apoptotic function and contribute to the pathogenesis of some human malignant melanomas.

Alleles↗