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1.
Journal of Veterinary Science ; : e53-2023.
Article in English | WPRIM | ID: wpr-1001923

ABSTRACT

Background@#Mammalian orthoreovirus type 3 (MRV3), which is responsible for gastroenteritis in many mammalian species including pigs, has been isolated from piglets with severe diarrhea. However, the use of pig-derived cells as an infection model for swineMRV3 has rarely been studied. @*Objectives@#This study aims to establish porcine intestinal organoids (PIOs) and examine their susceptibility as an in vitro model for intestinal MRV3 infection. @*Methods@#PIOs were isolated and established from the jejunum of a miniature pig.Established PIOs were characterized using polymerase chain reaction (PCR) and immunofluorescence assays (IFAs) to confirm the expression of small intestine-specific genes and proteins, such as Lgr5, LYZI, Mucin-2, ChgA, and Villin. The monolayered PIOs and threedimensional (3D) PIOs, obtained through their distribution to expose the apical surface, were infected with MRV3 for 2 h, washed with Dulbecco’s phosphate-buffered saline, and observed. Viral infection was confirmed using PCR and IFA. We performed quantitative realtime reverse transcription-PCR to assess changes in viral copy numbers and gene expressions linked to intestinal epithelial genes and antiviral activity. @*Results@#The established PIOs have molecular characteristics of intestinal organoids. Infected PIOs showed delayed proliferation with disruption of structures. In addition, infection with MRV3 altered the gene expression linked to intestinal epithelial cells and antiviral activity, and these effects were observed in both 2D and 3D models. Furthermore, viral copy numbers in the supernatant of both models increased in a time-dependent manner. @*Conclusions@#We suggest that PIOs can be an in vitro model to study the infection mechanism of MRV3 in detail, facilitating pharmaceutical development.

2.
Journal of Veterinary Science ; : 34-42, 2019.
Article in English | WPRIM | ID: wpr-758886

ABSTRACT

In vitro prediction of hepatotoxicity can enhance the performance of non-clinical animal testing for identifying chemical hazards. In this study, we assessed high-content analysis (HCA) using multi-parameter cell-based assays as an in vitro hepatotoxicity testing model using various hepatotoxicants and human hepatocytes such as HepG2 cells and human primary hepatocytes (hPHs). Both hepatocyte types were exposed separately to multiple doses of ten hepatotoxicants associated with liver injury whose mechanisms of action have been described. HCA data were obtained using fluorescence probes for nuclear size (Hoechst), mitochondrial membrane potential (TMRM), cytosolic free calcium (Fluo-4AM), and lipid peroxidation (BODIPY). Cellular alterations were observed in response to all hepatotoxicants tested. The most sensitive parameter was TMRM, with high sensitivity at a low dose, next was BODIPY, followed by Fluo-4AM. HCA data from HepG2 cells and hPHs were generally concordant, although some inconsistencies were noted. Both hepatocyte types showed mild or severe mitochondrial impairment and lipid peroxidation in response to several hepatotoxicants. The results demonstrate that the application of HCA to in vitro hepatotoxicity testing enables more efficient hazard identification, and further, they suggest that certain parameters could serve as sensitive endpoints for predicting the hepatotoxic potential of chemical compounds.


Subject(s)
Animals , Humans , Calcium , Cytosol , Fluorescence , Hep G2 Cells , Hepatocytes , In Vitro Techniques , Lipid Peroxidation , Liver , Membrane Potential, Mitochondrial
3.
Annals of Pediatric Endocrinology & Metabolism ; : 64-67, 2019.
Article in English | WPRIM | ID: wpr-762587

ABSTRACT

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. This report describes a female infant admitted for evaluation of nephrocalcinosis. She presented with hypercalcemia, hypercalciuria, low intact parathyroid hormone level, and high 1,25-dihydroxyvitamin D3 level. Exome sequencing identified novel compound heterozygous mutations in SLC34A1 (c.1337G>A, c.1483C>T). The patient was treated with fluids for hydration, furosemide, a corticosteroid, and restriction of calcium/vitamin D intake. At the age of 7 months, the patient's calcium level was within the normal range, and hypercalciuria waxed and waned. Renal echogenicity improved on the follow-up ultrasonogram, and developmental delay was not noted. In cases of hypercalcemia with subsequent hypercalciuria, DNA analysis for SLC34A1 gene mutations and CYP24A1 gene mutations should be performed. Further studies are required to obtain long-term data on hypercalciuria and nephrocalcinosis.


Subject(s)
Female , Humans , Infant , Calcitriol , Calcium , Dehydration , DNA , Exome , Failure to Thrive , Follow-Up Studies , Furosemide , Hypercalcemia , Hypercalciuria , Hypophosphatemia , Kidney , Nephrocalcinosis , Parathyroid Hormone , Reference Values , Sodium-Phosphate Cotransporter Proteins , Ultrasonography , Vitamin D , Vitamin D3 24-Hydroxylase , Vomiting
4.
Brain Tumor Research and Treatment ; : 92-97, 2019.
Article in English | WPRIM | ID: wpr-763109

ABSTRACT

BACKGROUND: Pilocytic astrocytoma (PA) is a brain tumor that is relatively more common in children and young adults. METHODS: We retrospectively reviewed the medical records of patients with PA treated at a single center between 1988 and 2018. RESULTS: We included 31 subjects with PA. The median age at diagnosis was 13.4 years, and the median follow-up duration was 9.9 years. The total PA group had a 10-year disease-specific survival (DSS) rate of 92.6% [95% confidence interval (CI), 82.6–100] and 10-year progression-free survival (PFS) rate of 52.8% (95% CI, 32.0–73.6). In patients aged <20 years, tumors were more likely to be located in sites in which gross total tumor resection (GTR) was impossible. No statistically significant difference in 10-year DSS was found between the GTR (100%) and non-GTR (89.7%; 95% CI, 76.2–100; p=0.374) groups. However, a statistically significant difference in 10-year PFS was found between the GTR (100%) and non-GTR groups (30.7%; 95% CI, 8.6–52.8; p=0.012). In the non-GTR group, no statistically significant difference in 10-year DSS was found between the patients who received immediate additional chemotherapy and/or radiotherapy (Add-Tx group, 92.9%; 95% CI, 79.4–100) and the non-Add-Tx group (83.3%; 95% CI, 53.5–100; p=0.577). No statistically significant difference in 10-year PFS was found between the Add-Tx group (28.9%; 95% CI, 1.7–56.1) and non-Add-Tx group (33.3%; 95% CI, 0–70.9; p=0.706). CONCLUSION: The PFS of the patients with PA in our study depended only on the degree of surgical excision associated with tumor location. This study is limited by its small number of patients and retrospective nature. A multicenter and prospective study is necessary to confirm these findings.


Subject(s)
Adolescent , Child , Humans , Young Adult , Astrocytoma , Brain Neoplasms , Diagnosis , Disease-Free Survival , Drug Therapy , Follow-Up Studies , Glioma , Medical Records , Prognosis , Prospective Studies , Radiotherapy , Retrospective Studies , Survivors
5.
Korean Journal of Pediatrics ; : 403-406, 2018.
Article in English | WPRIM | ID: wpr-718501

ABSTRACT

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.


Subject(s)
Child , Humans , Male , Ear , Exome , High-Throughput Nucleotide Sequencing , Karyotype , Korea , Language Development Disorders , Lip , Nose , Parents , Phenotype
6.
Clinical Pediatric Hematology-Oncology ; : 75-79, 2017.
Article in English | WPRIM | ID: wpr-788592

ABSTRACT

A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's abdomen revealed a 7.5 cm×7.0 cm×6.0 cm mass with a thick peripheral enhancing wall and fluid-fluid level at the right suprarenal region. His ¹²³I-meta-iodobenzylguanidine (MIBG) scan showed a large mass with increased MIBG uptake in the right adrenal gland. The levels of serum norepinephrine, urine epinephrine/norepinephrine, metanephrine, and vanillylmandelic acid were elevated. He, his mother, and two sisters tested positive for the known mutation of multiple endocrine neoplasia type 2A, Cys634Tyr in RET proto-oncogene. Laparoscopic tumor excision and right adrenalectomy were performed. Final diagnosis was pheochromocytoma with malignant behavior, based on adrenal gland scoring scale. However, there was no overt metastasis. After surgery, his symptoms resolved and abnormal laboratory tests were normalized.


Subject(s)
Child , Humans , Male , 3-Iodobenzylguanidine , Abdomen , Abdominal Pain , Adrenal Glands , Adrenalectomy , Diagnosis , Magnetic Resonance Imaging , Metanephrine , Mothers , Multiple Endocrine Neoplasia Type 2a , Multiple Endocrine Neoplasia , Neoplasm Metastasis , Norepinephrine , Pheochromocytoma , Proto-Oncogenes , Siblings , Sweat , Sweating , Thyroid Neoplasms , Vanilmandelic Acid
7.
Annals of Pediatric Endocrinology & Metabolism ; : 176-182, 2017.
Article in English | WPRIM | ID: wpr-99769

ABSTRACT

PURPOSE: Precocious puberty has significantly increased recently. While obesity is associated with puberty timing, the relationship between obesity and central precocious puberty (CPP) remains controversial. The purpose of this study was to determine whether insulin resistance is associated with bone age (BA) advancement in girls with CPP. METHODS: We retrospectively analyzed the records of 804 girls referred for puberty evaluation. Anthropometric measurements, BA, sex hormone, sex hormone binding globulin (SHBG), and insulin levels, lipid profiles, and gonadotropin releasing hormone stimulation tests were assessed. Insulin resistance parameters were calculated using the homeostasis model assessment-insulin resistance (HOMA-IR) and quantitative insulin sensitivity check index (QUICKI) models. RESULTS: BA, BA advancement, free estradiol index, insulin, and HOMA-IR increased significantly in girls with high body mass index (BMI) compared with that of girls with low BMI in cases of CPP. HOMA-IR was positively correlated with BA advancement and BMI but negatively correlated with SHBG. QUICKI was negatively correlated with BA advancement and BMI and positively correlated with SHBG. When HOMA-IR increased by 1, the odds for BA advancement increased 120% after adjusting for age and BMI (P=0.033). CONCLUSION: Insulin resistance could be associated with BA advancement in girls with CPP.


Subject(s)
Adolescent , Female , Humans , Body Mass Index , Estradiol , Gonadotropin-Releasing Hormone , Homeostasis , Insulin Resistance , Insulin , Luteinizing Hormone , Obesity , Puberty , Puberty, Precocious , Retrospective Studies , Sex Hormone-Binding Globulin
8.
Annals of Pediatric Endocrinology & Metabolism ; : 68-71, 2017.
Article in English | WPRIM | ID: wpr-226720

ABSTRACT

Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability. Laboratory investigation revealed marked triglyceridemia (>5,000 mg/dL) with high chylomicron levels. We therefore decided to perform a therapeutic plasmapheresis to prevent acute pancreatitis. Sequence analysis revealed a homozygous novel mutation in exon 4 of GPIHBP1: c.476delG (p.Gly159Alafs). Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) stabilizes the binding of chylomicrons near lipoprotein lipase and supports lipolysis. Mutations of GPIHBP1, the most recently discovered gene, can lead to severe hyperlipidemia and are known to make up only 2% of the monogenic mutations associated with chylomicronemia. The patient maintains mild hypertriglyceridemia without rebound after single plasmapheresis and maintenance fibrate medication so far. Here, we report an infant with chylomicronemia due to GPIHBP1 mutation, successfully treated by plasmapheresis.


Subject(s)
Humans , Infant , Infant, Newborn , Chylomicrons , Exons , Fever , Hyperlipidemias , Hypertriglyceridemia , Lipolysis , Lipoprotein Lipase , Multiple Organ Failure , Necrosis , Pancreatitis , Plasma , Plasmapheresis , Sequence Analysis
9.
Clinical Pediatric Hematology-Oncology ; : 75-79, 2017.
Article in English | WPRIM | ID: wpr-197952

ABSTRACT

A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's abdomen revealed a 7.5 cm×7.0 cm×6.0 cm mass with a thick peripheral enhancing wall and fluid-fluid level at the right suprarenal region. His ¹²³I-meta-iodobenzylguanidine (MIBG) scan showed a large mass with increased MIBG uptake in the right adrenal gland. The levels of serum norepinephrine, urine epinephrine/norepinephrine, metanephrine, and vanillylmandelic acid were elevated. He, his mother, and two sisters tested positive for the known mutation of multiple endocrine neoplasia type 2A, Cys634Tyr in RET proto-oncogene. Laparoscopic tumor excision and right adrenalectomy were performed. Final diagnosis was pheochromocytoma with malignant behavior, based on adrenal gland scoring scale. However, there was no overt metastasis. After surgery, his symptoms resolved and abnormal laboratory tests were normalized.


Subject(s)
Child , Humans , Male , 3-Iodobenzylguanidine , Abdomen , Abdominal Pain , Adrenal Glands , Adrenalectomy , Diagnosis , Magnetic Resonance Imaging , Metanephrine , Mothers , Multiple Endocrine Neoplasia Type 2a , Multiple Endocrine Neoplasia , Neoplasm Metastasis , Norepinephrine , Pheochromocytoma , Proto-Oncogenes , Siblings , Sweat , Sweating , Thyroid Neoplasms , Vanilmandelic Acid
10.
Journal of Veterinary Science ; : 61-71, 2014.
Article in English | WPRIM | ID: wpr-56432

ABSTRACT

This study was performed to assess the neurotoxic effects of methylmercury, arsanilic acid and danofloxacin by quantification of neural-specific proteins in vitro. Quantitation of the protein markers during 14 days of differentiation indicated that the mouse ESCs were completely differentiated into neural cells by Day 8. The cells were treated with non-cytotoxic concentrations of three chemicals during differentiation. Low levels of exposure to methylmercury decreased the expression of GABAA-R and Nestin during the differentiating stage, and Nestin during the differentiated stage. In contrast, GFAP, Tuj1, and MAP2 expression was affected only by relatively high doses during both stages. Arsanilic acid affected the levels of GABA(A)-R and GFAP during the differentiated stage while the changes of Nestin and Tuj1 were greater during the differentiating stage. For the neural markers (except Nestin) expressed during both stages, danofloxacin affected protein levels at lower concentrations in the differentiated stage than the differentiating stage. Acetylcholinesterase activity was inhibited by relatively low concentrations of methylmercury and arsanilic acid during the differentiating stage while this activity was inhibited only by more than 40 microM of danofloxacin in the differentiated stage. Our results provide useful information about the different toxicities of chemicals and the impact on neural development.


Subject(s)
Animals , Mice , Acetylcholinesterase/metabolism , Arsanilic Acid/toxicity , Cell Differentiation/drug effects , Embryonic Stem Cells/cytology , Environmental Pollutants/toxicity , Fluorescent Antibody Technique , Fluoroquinolones/toxicity , Gene Expression Regulation/drug effects , Methylmercury Compounds/toxicity , Nerve Tissue Proteins/metabolism , Neurons/cytology , Tetrazolium Salts/metabolism , Thiazoles/metabolism
11.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 61-64, 2013.
Article in English | WPRIM | ID: wpr-22223

ABSTRACT

Infection-induced acute hepatitis complicated with acute pancreatitis is associated with hepatitis A virus, hepatitis B virus or hepatitis E virus. Although rare, Epstein-Barr virus (EBV) infection should be considered also in the differential diagnosis if the patient has acute hepatitis combined with pancreatitis. We report a case of EBV infection with cholestatic hepatitis and pancreatitis with review of literature. An 11-year-old female was admitted due to 1-day history of abdominal pain and vomiting without any clinical symptoms of infectious mononucleosis. Diagnosis of reactivated EBV infection was made by the positive result of viral capsid antigen (VCA) IgM, VCA IgG, Epstein-Barr nuclear antigen and heterophile antibody test. We performed serologic tests and magnetic resonance cholangiopancreatography to exclude other viral or bacterial infection, autoimmune disorder, and structural problems. The patient's symptoms recovered rapidly and blood chemistry returned to normal with conservative treatment similar to previously reported cases.


Subject(s)
Female , Humans , Abdominal Pain , Bacterial Infections , Capsid , Cholangiopancreatography, Magnetic Resonance , Cholestasis , Diagnosis, Differential , Epstein-Barr Virus Infections , Hepatitis , Hepatitis A virus , Hepatitis B virus , Hepatitis E virus , Herpesvirus 4, Human , Immunoglobulin G , Immunoglobulin M , Infectious Mononucleosis , Pancreatitis , Serologic Tests , Vomiting
12.
Pediatric Allergy and Respiratory Disease ; : 163-170, 2012.
Article in Korean | WPRIM | ID: wpr-54799

ABSTRACT

PURPOSE: To evaluate the clinical characteristics and radiologic patterns of adolescents with pulmonary tuberculosis (TB), and to assess whether they are related with primary TB or reactive TB. METHODS: Among the enrolled patients who were diagnosed with pulmonary TB from March 2000 to May 2011, 36 with plain radiography and/or chest computed tomography (CT) were reviewed. We reviewed retrospectively their medical charts to collect clinical data and past history. Among these 36 patients, plain radiography of the 36 patients and chest CT of the 34 patients were retrospectively evaluated. RESULTS: The patients consisted of 18 males and 18 females, and their median age was 14 years old. The most common clinical presentation was cough and fever. Half of them had chronic cough for more than two weeks. Ten patients had history of close contact with adult patients with active pulmonary TB: 7 patients with their parents, 2 patients with friends, 1 patient with their grandmother. The most frequent pattern of plain radiography was pleural effusion (16/36). In the chest CT findings, all cases showed parenchymal lesions and lymphadenopathy. In addition, 91% of the cases showed acinar nodules. The pattern of pleural effusion revealed associated ipsilateral pleural lymph node and subpleural nodule. Rim enhancement and calcification of the lymph node demonstrated 9% (3/34) and 12% (4/34), respectively. Only two of them showed typical hilar lymphadenopathy in chest X ray and CT. CONCLUSION: The radiologic findings of adolescents with pulmonary TB show patterns for rather reactive than primary TB. For diagnosis of adolescent pulmonary TB, chest CT is more helpful than that of plain radiography.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Cough , Fever , Friends , Lymph Nodes , Lymphatic Diseases , Parents , Pleural Effusion , Retrospective Studies , Thorax , Tuberculosis , Tuberculosis, Pulmonary
13.
Cancer Research and Treatment ; : 57-62, 2012.
Article in English | WPRIM | ID: wpr-213348

ABSTRACT

PURPOSE: Non-small cell lung carcinoma (NSCLC) comprises 75-85% of all lung cancers, and approximately 25% of all NSCLC patients develop brain metastasis. There are no reliable markers for predicting in which patients this metastasis will occur. DCUN1D1, also known as squamous cell carcinoma-related oncogene, is associated with tumor progression and poor outcomes in NSCLC. The objective of this study was to investigate the role of DCUN1D1 expression in cases of brain metastasis due to NSCLC. MATERIALS AND METHODS: Primary tumor samples from a total of 71 cases of NSCLC, either with (n=40) or without (n=31) brain metastasis, were evaluated for DCUN1D1 expression by immunohistochemistry analysis. RESULTS: DCUN1D1 expression was detected in 16 patients (23%) and tended to correlate with T classification (15% of T1-2 tumors vs. 30% of T3-4 tumors, p=0.083). DCUN1D1 expression was significantly associated with tumor stage. It was observed in none of the patients with stage I disease, 10% of those with stage II disease, and 29% with stage III disease (p=0.009). In addition, 14 of 16 DCUN1D1-positive patients resulted in brain metastasis (p=0.01). The odds ratio of brain metastasis for patients with DCUN1D1 expression was 3.112 (p=0.009). CONCLUSION: DCUN1D1 expression may play a role in tumor progression and development of brain metastasis in patients with NSCLC. Evaluation of DCUN1D1 expression may provide assistance in identifying those patients who are at higher risk for brain metastasis.


Subject(s)
Humans , Brain , Immunohistochemistry , Lung , Lung Neoplasms , Neoplasm Metastasis , Odds Ratio , Oncogenes
14.
Korean Journal of Veterinary Research ; : 45-52, 2012.
Article in Korean | WPRIM | ID: wpr-145337

ABSTRACT

The present study was carried out to investigate the effect of barley and barley bran contaminated with Fusarium spp on growth performance and feed efficiency of fattening and growing pigs. In experiment 1, total 48 fattening Landrace pigs were used in a fattening trial for 71 days. Pigs weighing around 75 kg were allocated into different substitution groups containing 0, 10, 20 and 30% of barley contaminated Fusarium spp. In experiment 2, total 16 growing Landrace pigs were used in a growing trial for 45 days. Pigs weighing around 29.4 kg were allocated into different substitution groups containing 0, 5, 10 and 20% of barley bran contaminated Fusarium spp. Mycotoxin concentrations of barley and barley bran contaminated with 30% Fusarium spp were 0.452 and 1.049 ppm for deoxynivalenol, 8.125 and 17.646 ppm for nivalenol and 0.023 and 0.029 ppm for zearalenone, respectively. In experiment 1, no differences were found in weight gain and feed intake between control group (0%) and 10 or 20% substitution groups, but in 30% substitution group, weight gain and feed intake were significantly lower (p < 0.05) than those in control group. After slaughtering, the extended haemorrhage of the fundus region in stomach was observed in 20 or 30% substitution groups. In experiment 2, weight gain and feed intake were not significantly different among treatment groups. After slaughtering of experimental pigs, the extended haemorrhage of the fundus region in stomach was observed in pigs fed diet with 20% substitution group. These results suggest that the feeding of diet with contaminated highly levels of Fusarium spp was negative effect on growth and feed efficiency in growing and fattening pig.


Subject(s)
Diet , Fusarium , Hordeum , Stomach , Swine , Trichothecenes , Weight Gain , Zearalenone
15.
Korean Journal of Pathology ; : 644-649, 2011.
Article in English | WPRIM | ID: wpr-78178

ABSTRACT

Cutaneous myoepithelial neoplasms and papillary eccrine adenomas (PEA) are rare conditions. Malignant tumors within a PEA are even rarer, with only one case reported to date. Herein, we present an extremely rare case of a cutaneous myoepithelial carcinoma arising in a PEA in a 70-year-old man presenting a solid mass in the left buttock. Histopathologically, most of the resected tumor revealed features consistent with the diagnosis of PEA. Some small nests and nodules were intermixed with the PEA and were present adjacent to the PEA. The tumor cells of nests and nodules showed ovoid to spindle shaped nuclei and slightly eosinophilic cytoplasm. Immunohistochemically, they were positive for both epithelial and myogenic markers, consistent with myoepithelioma. An inguinal lymph node with a metastatic lesion showed the same findings of myoepithelioma despite inconspicuous atypia. Our case showed malignant transformation of the myoepithelial cells at the outermost layers of the PEA.


Subject(s)
Aged , Humans , Adenoma , Buttocks , Cytoplasm , Eosinophils , Lymph Nodes , Myoepithelioma , Pisum sativum , Skin
16.
Korean Journal of Pathology ; : 247-253, 2011.
Article in Korean | WPRIM | ID: wpr-31612

ABSTRACT

BACKGROUND: Apoptosis protease activating factor-1 (Apaf-1), caspase-9, Bcl-2, p53, and survivin are important factors in the pathway of apoptosis, but their clinicopathologic significance remains unclear in human cutaneous melanoma. We investigated the expression of these proteins and their clinical value in human cutaneous melanocytic lesions. METHODS: We performed an immunohistochemical analysis to examine the expression and distribution of Apaf-1, caspase-9, Bcl-2, p53, and survivin in 36 cases of malignant melanoma (22 cases of primary melanoma and 14 cases of metastatic melanoma) and 41 cases of melanocytic nevus. RESULTS: The expression of p53 was significantly higher in malignant melanoma than in melanocytic nevus (p<0.01), however the expressions of Apaf-1 and caspase-9 were significantly lower in malignant melanoma compared with melanocytic nevus (p<0.01 and p=0.027, respectively). Also, there was a significant difference for Bcl-2 staining between primary melanomas and metastatic lesions (p=0.004). Nuclear staining for survivin were absent in nevus, but were positive in 14 of 36 melanomas (p<0.01). CONCLUSIONS: The altered expression of Apaf-1, caspase-9, p53, and survivin are considered to be related to malignant progression in human cutaneous melanocytic lesions. Loss of Bcl-2 can be considered as a prognostic marker of malignant melanomas.


Subject(s)
Humans , Apoptosis , Caspase 9 , Melanoma , Nevus , Nevus, Pigmented , Proteins
17.
Journal of Korean Medical Science ; : 405-417, 2010.
Article in English | WPRIM | ID: wpr-161038

ABSTRACT

Recent evidence suggests that gastric mucosal injury induces adaptive changes in DNA methylation. In this study, the methylation status of the key tissue-specific genes in normal gastric mucosa of healthy individuals and cancer patients was evaluated. The methylation-variable sites of 14 genes, including ulcer-healing genes (TFF1, TFF2, CDH1, and PPARG), were chosen from the CpG-island margins or non-island CpGs near the transcription start sites. The healthy individuals as well as the normal gastric mucosa of 23 ulcer, 21 non-invasive cancer, and 53 cancer patients were examined by semiquantitative methylation-specific polymerase chain reaction (PCR) analysis. The ulcer-healing genes were concurrently methylated with other genes depending on the presence or absence of CpG-islands in the normal mucosa of healthy individuals. Both the TFF2 and PPARG genes were frequently undermethylated in ulcer patients. The over- or intermediate-methylated TFF2 and undermethylated PPARG genes was more common in stage-1 cancer patients (71%) than in healthy individuals (10%; odds ratio [OR], 21.9) and non-invasive cancer patients (21%; OR, 8.9). The TFF2-PPARG methylation pattern of cancer patients was stronger in the older-age group (> or =55 yr; OR, 43.6). These results suggest that the combined methylation pattern of ulcer-healing genes serves as a sensitive marker for predicting cancer-prone gastric mucosa.


Subject(s)
Female , Humans , Male , Middle Aged , Biomarkers/metabolism , Cadherins/genetics , CpG Islands , DNA Methylation , Gastric Mucosa/pathology , Gene Expression Regulation, Neoplastic , Growth Substances/genetics , Neoplasm Invasiveness , PPAR gamma/genetics , Peptides/genetics , Stomach Neoplasms/genetics , Stomach Ulcer/genetics , Tumor Suppressor Proteins/genetics , Wound Healing/genetics
18.
Korean Journal of Pathology ; : 322-325, 2010.
Article in English | WPRIM | ID: wpr-127758

ABSTRACT

A 50-year-old female patient presented with anorexia and weight loss. Pelvic computed tomography revealed a 12.5 x 7.3 cm heterogeneous mass in the left ovary. About 30% of the tumor was occupied by a mature cystic teratoma. The remaining solid portion was composed of fibrous and histiocytic elements, arranged in storiform patterns admixed with bizarre giant cells. The mitotic index was 8 per 10 high power fields, including atypical mitoses. The only immunopositivity was for vimentin. The tumor was diagnosed as a malignant fibrous histiocytoma arising in a mature cystic teratoma. To the best of our knowledge, this is only the third such case in the English language literature.


Subject(s)
Female , Humans , Middle Aged , Anorexia , Giant Cells , Histiocytoma, Malignant Fibrous , Mitosis , Mitotic Index , Ovary , Teratoma , Vimentin , Weight Loss
19.
Korean Journal of Dermatology ; : 253-255, 2010.
Article in Korean | WPRIM | ID: wpr-196346

ABSTRACT

Seborrheic keratoses are the most common benign epidermal tumor of the skin and a frequent focus of patient concern because of their variable appearance. Seborrheic keratoses may arise on any non-mucosal surface, including the face, scalp, and trunk. However, it rarely occurs on the ear, especially on the scapha. We report a case of a 42 year-old female patient presenting with 1 cm, brownish pedunculated nodule of seborrheic keratosis on the scapha.


Subject(s)
Female , Humans , Ear , Ear Auricle , Keratosis, Seborrheic , Scalp , Skin
20.
Korean Journal of Pathology ; : 207-210, 2010.
Article in English | WPRIM | ID: wpr-169484

ABSTRACT

We report here on a case of a rare, complex bronchopulmonary foregut malformation (BPFM) that was composed of an extralobar pulmonary sequestration communicating with an esophageal duplication cyst. A 33-year-old female presented with an incidentally detected chest mass. The computed tomography revealed a 7.5 x 4.0 cm sized heterogeneous, solid and cystic lesion in the right superior mediastinum. Surgical resection demonstrated the solid portion to be isolated lung tissue invested in its own pleura. A unilocular cyst was communicating with the bronchus of the sequestrated lung, and microscopically the cyst was lined by squamous epithelium overlying the thick layers of smooth muscle. This case is important for understanding the spectrum of BPFMs and for differentiating a mediastinal mass, especially one at the unusual location.


Subject(s)
Adult , Female , Humans , Bronchi , Bronchopulmonary Sequestration , Epithelium , Esophageal Cyst , Lung , Mediastinum , Muscle, Smooth , Pleura , Thorax
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