Telomerase is an RNA-dependent DNA polymerase that synthesizes TTAGGG telomeric DNA onto chromosomal ends to compensate for sequence loss during replication. It has been detected in a variety of human malignancies, suggesting that such activity may play a role in the tumorigenic process. To determine whether telomerase is reactivated in malignant fibrous histiocytoma, 12 tissue samples with this tumor were analyzed for the telomerase activity by a radioactive PCR-based TRAP (telomeric repeat amplification protocol) assay. All of the tumors were further investigated for the expression of human telomerase RNA (hTR) by an in situ hybridization (ISH). Telomerase activity was detected in one (8.3%) sample. Expression of hTR was demonstrated in 7 (58.3%): one telomerase-positive and six telomerase-negatives. These data indicate that the reactivation of telomerase is an uncommon event and not an important factor involved in tumorigenesis in malignant fibrous histiocytoma. It is noteworthy that 50% of the patients with grade 2 tumors expressed hTR, suggesting that telomerase RNA may be useful as a marker for identifying tumor aggressiveness earlier than the conventional histopathologic grading scale.
Carcinogenesis ; DNA ; Histiocytoma, Malignant Fibrous* ; Humans ; In Situ Hybridization ; RNA* ; RNA-Directed DNA Polymerase ; Telomerase*

Linear nevus sebaceous syndrome is an uncommon neurocutaneous disorder characterized by nevus sebaceus, seizures, and mental retardation, and is often accompanied by ocular anormalies. We recently experienced a case of conjunctival choristoma associated with linear nevus sebaceous syndrome in a 17-month-old boy. The child was the product of a full-term uncomplicated pregnancy and normal delivery with normal karyotype of 46, XY. He was noted at birth to have a conjunctival mass on the right eye and linear nevi over the midline facial region and right temporoparietal scalp. Ophthalmologic examination revealed optic atrophy, peripapillary staphyloma, macular hypogenesis, and osseous choristoma of the choroid. A computed tomography scan demonstrated widening of the subarachnoid space and moderate atrophy of the cerebral and cerebellar hemispheres. He has been followed by ophthalmology and completely free of seizures since birth. The patient underwent excision of the conjunctival mass and biopsies of the skin lesion at 17 months of age. Histologic examination of the skin biopsies was characteristic for the linear sebaceous nevus of Jadassohn. Histologic findings of the conjunctival lesion showed a complex choristoma that contained lacrimal gland tissue and cartilage.
Atrophy ; Biopsy ; Cartilage ; Child ; Choristoma* ; Choroid ; Humans ; Infant ; Intellectual Disability ; Karyotype ; Lacrimal Apparatus ; Male ; Neurocutaneous Syndromes ; Nevus* ; Nevus, Sebaceous of Jadassohn ; Ophthalmology ; Optic Atrophy ; Parturition ; Pregnancy ; Scalp ; Seizures ; Skin ; Subarachnoid Space

Malaria is a parasitic infection caused by Plasmodium species. Most of the imported malaria in Korea are due to Plasmodium vivax and Plasmodium falciparum, and Plasmodium ovale infections are very rare. Here, we report a case of a 24-year-old American woman who acquired P. ovale while staying in Ghana, West Africa for 5 months in 2010. The patient was diagnosed with P. ovale malaria based on a Wright-Giemsa stained peripheral blood smear, Plasmodium genus-specific real-time PCR, Plasmodium species-specific nested PCR, and sequencing targeting 18S rRNA gene. The strain identified had a very long incubation period of 19-24 months. Blood donors who have malaria with a very long incubation period could be a potential danger for propagating malaria. Therefore, we should identify imported P. ovale infections not only by morphological findings but also by molecular methods for preventing propagation and appropriate treatment.
Blood/parasitology ; DNA, Protozoan/chemistry/genetics ; Female ; Ghana ; Humans ; Korea ; Malaria/*diagnosis/parasitology/*pathology ; Microscopy ; Plasmodium ovale/*isolation & purification ; Polymerase Chain Reaction ; RNA, Ribosomal, 18S/genetics ; Sequence Analysis, DNA ; *Travel ; Young Adult

BACKGROUND: The claudins are a family of transmembrane proteins associated with tight junctions and they are critical for maintaining cell-to-cell adhesion in sheets of epithelial cells. However, their role in the progression of cancer remains largely unexplored. The aims of this study were to evaluate the expression patterns of claudin-1 and -4 in benign lesions and invasive ductal carcinomas (IDC) of the breast, and relationships between the expression of these markers and the clinicopathological characteristics in IDC patients. METHODS: We examined the claudin-1 and -4 protein expressions by performing immunohistochemical stainings in 54 benign lesions and 120 IDCs via the tissue microarray method. We evaluated the correlation between the expression of these markers and the clinicopathological characteristics of IDC. RESULTS: The expressions of claudin-1 (p=0.099) and -4 (p=0.000) were up-regulated in IDCs as compared with benign lesions. The claudin-1 expression correlated with the loss of estrogen receptor (p=0.036) and progesterone receptor (p=0.011). The claudin-4 expression correlated with lymph node metastasis (p=0.043), the nuclear grade (p=0.030), the histologic grade (p=0.007), and the loss of estrogen receptor (p=0.001) and progesterone receptor (p= 0.029). CONCLUSIONS: These results suggest that claudin-1 and -4 may play a significant role in the carcinogenesis of IDC of the breast and these may represent novel markers for this disease.
Breast* ; Carcinogenesis ; Carcinoma, Ductal* ; Claudin-1* ; Claudin-4 ; Claudins ; Epithelial Cells ; Estrogens ; Humans ; Immunohistochemistry ; Lymph Nodes ; Neoplasm Metastasis ; Receptors, Progesterone ; Tight Junctions

PURPOSE: Telomerase is an RNA-dependent DNA polymerase that synthesizes TTAGGG telomeric DNA onto chromosome ends to compensate for sequence loss during DNA replication. It has been detected in 85~90% of all primary human cancers, implicating that its apparent reactivation in tumors may play a role in the tumorigenic process. The purpose of this study was to evaluate telomerase activity in stomach cancer, and to determine whether methacarn-fixed paraffin-embedded tissues can replace frozen tissue sections for the telomerase (TRAP) assay. MATERIALS AND METHODS: Frozen and corresponding methacarn-fixed paraffin-embedded tissue samples were obtained from 51 patients with gastric adenocarcinoma and analyzed for telomerase activity by using a TRAPeze ELISA kit. RESULTS: Telomerase activity was detected in 37 (73%) frozen samples, and in 13 (25%) methacarn-fixed paraffin blocks. Telomerase activity was well correlated with depth of invasion (p=.037) and tumor differentiation (p=.022). CONCLUSION: These data suggest that reactivated telomerase may play a significant role in the tumorigenesis of gastric cancer and may reflect the malignant potential of the tumor. It is noteworthy that methacarn- fixed tissue cannot as yet substitute for the frozen tissue in the TRAP assay.
Adenocarcinoma* ; Carcinogenesis ; DNA ; DNA Replication ; Enzyme-Linked Immunosorbent Assay ; Humans ; Paraffin ; RNA-Directed DNA Polymerase ; Stomach Neoplasms ; Telomerase*

Benign lymph node inclusions are rare, and can be mistaken for metastasis. We report, herein, a case of a 50-year-old woman who underwent a hysterectomy, with a lymphadenectomy, for an endometrial carcinoma. There was no lymph node metastasis; however, the left external and common iliac lymph nodes demonstrated a few glands, consistent with M llerian-type inclusions (endosalpingiosis). Awareness of these lesions is important to avoid either unnecessary therapy or any delay in treatment. Furthermore, pelvic and aortic lymphadenectomies may be warranted, as neoplastic transformation of preexisting metaplastic tubal-type epithelium is strongly suggested. This paper presents a case of intranodal endosalpingiosis mimicking metastasis.
Endometrial Neoplasms ; Epithelium ; Female ; Humans ; Hysterectomy ; Lymph Node Excision ; Lymph Nodes* ; Middle Aged ; Neoplasm Metastasis*

PURPOSE: Myocardial infarction in children with total occlusion of a coronary artery after Kawasaki disease is rare due to multiple collateral vessels. We aimed to investigate the changes in coronary perfusion associated with coronary artery occlusion after Kawasaki disease. MATERIALS AND METHODS: Eleven patients with coronary artery occlusion after Kawasaki disease were investigated. Serial coronary angiographies after total occlusion of a coronary artery were reviewed and the changes were described in all patients with additive information collected. RESULTS: The median age at the occlusion was 5.9 years old. The interval to occlusion was 6.2+/-6.9 years. Four left anterior descending coronary artery total occlusions and 10 right coronary artery total occlusions were detected. Immediate coronary artery bypass graft for left anterior descending coronary artery total occlusion made right coronary total occlusion occurred in all except one patient and the intervals thereof were 1 year, 1.8 years, and 4 years. Collaterals to the left coronary artery regressed after recanalization, while new collaterals to the right coronary artery developed. In three, collaterals to the right coronary artery decreased without recanalization without clinical signs. CONCLUSION: The right coronary artery should be followed up carefully because of possible occlusion of new onset or changes in collaterals.
Child ; Coronary Angiography ; Coronary Artery Bypass ; Coronary Occlusion ; Coronary Vessels* ; Humans ; Methods ; Mucocutaneous Lymph Node Syndrome* ; Myocardial Infarction ; Perfusion* ; Transplants

A 10-year-old-girl who underwent Roux-en-Y cystojejunostomy under the diagnosis of choledochal cyst at another hospital at the age of 3 months was referred to our hospital due to abdominal pain. Abdominal ultrasonography (USG) and computed tomography (CT) showed the type I choledochal cyst and multiple gall bladder stones. Severe inflammation and adhesion made difficulty of radical resection and only partial resection of choledochal cyst with Roux-en-Y hepaticojejunostomy could be performed. She complained of intermittent abdominal pain, fever, nausea and vomiting 2 1/2 years after the second operation. Follow-up abdominal CT scan showed the polypoid nodular lesion in the remnant choledochal cyst and suspicious metastatic lesion in the segment 7 of the liver. The duodenum was obstructed by the mass arising from the remnant choledochal cyst. The USG-guided liver biopsy revealed the moderately differentiated adenocarcinoma. A secondary palliative gastrojejunostomy was performed to relieve the obstruction of duodenum. She died of hepatic insufficiency 4 months later of third operation.
Abdominal Pain ; Adenocarcinoma ; Biopsy ; Choledochal Cyst* ; Diagnosis ; Drainage* ; Duodenum ; Fever ; Follow-Up Studies ; Gastric Bypass ; Hepatic Insufficiency ; Inflammation ; Liver ; Nausea ; Neoplasm Metastasis* ; Tomography, X-Ray Computed ; Ultrasonography ; Urinary Bladder Calculi ; Vomiting

An 11-year-old girl with history of two previous attacks of acute pancreatitis was admitted to another hospital. On physical examination, she had epigastric tenderness. Laboratory studies included amylase of 657IU/L and lipase of 3131IU/L. Abdominal computed tomography (CT) scan suggested necrosis in 30% of pancreas. To establish the cause of recurrent pancreatitis, endoscopic retrograde cholangiopancreatography (ERCP) was performed after acute pancreatitis subsided. Duodenoscopic view revealed a blind sac covered by normal duodenal mucosa at the second portion of the duodenum. Barium upper gastrointestinal series (UGI) showed a large sac separated from adjacent duodenal lumen by a radiolucent band. Diagnosis of intraluminal duodenal diverticulum (IDD) was made and endoscopic excision was considered. The apex of the diverticulum was incised endoscopically using a needle knife papillotome. At a follow-up endoscopy one day after procedure, bleeding from the incised edge of diverticulum was noted. Despite hemoclipping and injection of hypertonic saline-epinephrine solution by under the endoscopy, hemostasis was unsuccessful. She was transferred to the Kyungpook National University Hospital after resuscitation. Open duodenotomy and excision of the diverticulum were performed. She has recovered well from surgery and remains asymptomatic.
Amylases ; Barium ; Child* ; Cholangiopancreatography, Endoscopic Retrograde ; Diagnosis ; Diverticulum* ; Duodenum ; Endoscopy ; Female* ; Follow-Up Studies ; Gyeongsangbuk-do ; Hemorrhage ; Hemostasis ; Humans ; Lipase ; Mucous Membrane ; Necrosis ; Needles ; Pancreas ; Pancreatitis* ; Physical Examination ; Resuscitation

PURPOSE: Sarcomas have rarely been analyzed for telomerase, which is an RNA-dependent DNA polymerase to maintain telomeres and prevent telomere shortening. This study was undertaken to determine telomerase activity and the expression of the telomerase subunits human telomerase RNA (hTR) and telomerase reverse transcriptase (TERT) in soft tissue sarcomas. MATERIALS AND METHODS: Twenty three sarcomas were analyzed for the telomerase activity by a radioactive PCR-based TRAP assay. All of the samples were further investigated for the expression of hTR by in situ hybridization and for TERT and p53 by immunohistochemistry. RESULTS: Telomerase activity was detected in four (17%) samples. Expression of hTR was demonstrated in 11 (48%) cases, whereas TERT was expressed in 20 (87%).Of the four telomerase-positive tumors, three were positive for both hTR and TERT, and one was positive only for TERT. p53 overexpression was observed in nine (39%) tumors. The frequency of p53 expression increased as the tumor grade advanced (p= .064). CONCLUSION: These data indicate that the reactivation of telomerase is an uncommon event in human soft tissue sarcomas. The high frequency of the expression of hTR and TERT in these tumors suggests that telomerase activity may be regulated at the transcriptional level and an additional event leading to telomerase activation exist.
Humans* ; Immunohistochemistry ; In Situ Hybridization ; RNA ; RNA-Directed DNA Polymerase ; Sarcoma* ; Telomerase* ; Telomere ; Telomere Shortening