PURPOSE: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II. METHODS: We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl-alpha-iduronate 2-sulphate. RESULTS: Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type (P=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 nmol.4 hr-1.mL-1. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; P=0.003). CONCLUSION: These results show that the mild phenotype may be related to residual lysosomal enzyme activity.
Enzyme Assays ; Fibroblasts ; Humans ; Iduronate Sulfatase ; Leukocytes ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Phenotype ; Plasma ; Sensitivity and Specificity ; Skin

PURPOSE: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS activity using a fluorometric assay is simpler than conventional measurements using skin fibroblasts or peripheral blood mononuclear cells. This is the first study to describe the relationship between plasma IDS activity and clinical phenotype of MPS II. METHODS: We hypothesized that residual plasma IDS activity is related to clinical phenotype. We classified 43 Hunter syndrome patients as having attenuated or severe disease types based on clinical characteristics, especially intellectual and cognitive status. There were 27 patients with the severe type and 16 with the attenuated type. Plasma IDS activity was measured by a fluorometric enzyme assay using 4-methylumbelliferyl-alpha-iduronate 2-sulphate. RESULTS: Plasma IDS activity in patients with the severe type was significantly lower than that in patients with the attenuated type (P=0.006). The optimal cut-off value of plasma IDS activity for distinguishing the severe type from the attenuated type was 0.63 nmol.4 hr-1.mL-1. This value had 88.2% sensitivity, 65.4% specificity, and an area under receiver-operator characteristics (ROC) curve of 0.768 (ROC curve analysis; P=0.003). CONCLUSION: These results show that the mild phenotype may be related to residual lysosomal enzyme activity.
Enzyme Assays ; Fibroblasts ; Humans ; Iduronate Sulfatase ; Leukocytes ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Phenotype ; Plasma ; Sensitivity and Specificity ; Skin

A 70-year-old man with a long history of diabetes mellitus presented to our hospital (Department of Ophthalmology, Sahm Yook Medical Center, Seoul, Korea) complaining of severe ocular pain and visual disturbance in his left eye that had started three days prior to admission. A round 3.7 x 5.0 mm dense central stromal infiltrate with an overlying epithelial defect was noted on slit-lamp examination. Following corneal scrapings and culture, topical 0.5% moxifloxacin and 0.5% tobramycin were administered hourly. A few days later, Stenotrophomonas maltophilia was isolated in a bacterial culture from a corneal specimen. According to the results of susceptibility tests, topical 0.5% moxifloxacin was given every hour and 0.5% tobramycin was stopped. The patient's clinical features improved steadily with treatment. The corneal epithelium healed rapidly, and the infiltrate resolved within four weeks of the initiation of treatment. The patient's best corrected visual acuity improved from hand motion to 20 / 25.
Aged ; Anti-Infective Agents/administration & dosage ; Aza Compounds/*administration & dosage ; Cornea/*microbiology/pathology ; Diagnosis, Differential ; Eye Infections, Bacterial/diagnosis/*drug therapy/microbiology ; Follow-Up Studies ; Gram-Negative Bacterial Infections/diagnosis/*drug therapy/microbiology ; Humans ; Keratitis/diagnosis/*drug therapy/microbiology ; Male ; Ophthalmic Solutions ; Quinolines/*administration & dosage ; Stenotrophomonas maltophilia/*isolation & purification ; Visual Acuity

A 70-year-old man with a long history of diabetes mellitus presented to our hospital (Department of Ophthalmology, Sahm Yook Medical Center, Seoul, Korea) complaining of severe ocular pain and visual disturbance in his left eye that had started three days prior to admission. A round 3.7 x 5.0 mm dense central stromal infiltrate with an overlying epithelial defect was noted on slit-lamp examination. Following corneal scrapings and culture, topical 0.5% moxifloxacin and 0.5% tobramycin were administered hourly. A few days later, Stenotrophomonas maltophilia was isolated in a bacterial culture from a corneal specimen. According to the results of susceptibility tests, topical 0.5% moxifloxacin was given every hour and 0.5% tobramycin was stopped. The patient's clinical features improved steadily with treatment. The corneal epithelium healed rapidly, and the infiltrate resolved within four weeks of the initiation of treatment. The patient's best corrected visual acuity improved from hand motion to 20 / 25.
Aged ; Anti-Infective Agents/administration & dosage ; Aza Compounds/*administration & dosage ; Cornea/*microbiology/pathology ; Diagnosis, Differential ; Eye Infections, Bacterial/diagnosis/*drug therapy/microbiology ; Follow-Up Studies ; Gram-Negative Bacterial Infections/diagnosis/*drug therapy/microbiology ; Humans ; Keratitis/diagnosis/*drug therapy/microbiology ; Male ; Ophthalmic Solutions ; Quinolines/*administration & dosage ; Stenotrophomonas maltophilia/*isolation & purification ; Visual Acuity

Postirradiation extraosseous osteogenic sarcomas are uncommon in the head and neck, despite the extensive use of high-dose radiation. It has been described as de novo radiation-induced neoplasm. We present a 73-year-old male who had been treated by radiotherapy for gingival cancer 7 years earlier and later developed extraosseous osteogenic sarcomas (EOSs) of the neck. Microscopically, the neck mass was composed with mesenchymal malignant cells with cartilaginous and osteogenic differentiation. Immunohistochemical stain demonstrated strong positivity of tumor cells for Snail, the one of major epithelial-mesenchymal transition (EMT) inducer. The E-cadherin expression was scarce, showing inverse relationship to Snail expression. Compared with previous squamous cell carcinoma (SCC) of the gingiva, the present EOS sample revealed the remained epithelial cells on cytokeratin immunohistochemistry, suggesting the tumor arise from the cells of epithelial origin. We have also reviewed the previous 6 cases of head and neck EOSs carefully. The clinicopathologic features of the unusual lesion suggest that it is an incomplete EMT of precedent epithelial malignancy rather than de novo pathology.
Aged ; Cadherins ; Carcinoma, Squamous Cell ; Composite Resins ; Durapatite ; Epithelial Cells ; Epithelial-Mesenchymal Transition ; Gingiva ; Head ; Humans ; Immunohistochemistry ; Keratins ; Male ; Mouth Neoplasms ; Neck ; Neoplasms, Radiation-Induced ; Osteosarcoma ; Snails

We have always attempted to create a standard treatment protocol for patients with gastric cancer. However, many debates still exist regarding gastric cancer treatment. For the past 2 years, at the Annual Congress of the Korean Gastric Cancer Association, we have presented a grand symposium on the "Debates on the strategy for treating gastric cancer". In 2008, four major topics were discussed and voted on after discussion. The four major topics were proximal location treatment for early gastric cancer, management choices for pyloric obstruction with advanced gastric cancer, management of liver metastasis, and reconstruction methods after a distal gastrectomy. The opinions of the audience for six minor topics were expressed by an electronic voting system. In 2009, the four main topics were treatment for submucosal tumor sized around 2 cm, laparoscopic gastrectomy in T2N1 gastric cancer, choices for managing gastric lymphoma, and application of a pylorus preserving procedure for early gastric cancer at the antrum. The opinions of the audience for these six minor topics were expressed by an electronic voting system, as was conducted in 2008. It was good opportunity to identify a point of contact about the debates on managing gastric cancer. The results of these debates and studies will identify the best methods to treat patients with gastric cancer.
Clinical Protocols ; Electronics ; Electrons ; Gastrectomy ; Humans ; Liver ; Lymphoma ; Lymphoma, Non-Hodgkin ; Neoplasm Metastasis ; Politics ; Pylorus ; Stomach Neoplasms

Leiomyoma of the rectum is a rare tumor and it usually present in 40 to 60 year-old individuals, and it is more frequent in men. It originates from either the muscularis mucosa or muscularis externa and those arising from the muscularis mucosa are typically small and they are identified incidentally in patients who are undergoing sigmoidoscopy. In contrast, the larger leiomyomas arising from the muscularis externa generally present symptoms that are consistent with rectal stenosis or a rectal mass. Endoscopic ultrasonography can help to define the tumor location, extension and size. Surgical resection is the treatment for most leiomyomas of the rectum, but endoscopic electroexcision is a safe and appropriate treatment for small polypoid rectal leiomyoma. We report here on a case of a semipedunculated rectal leiomyoma in a 59 year-old female patient. It was found incidentally during a colonoscopic examination and it was diagnosed by endoscopic ultrasonography. We performed endoscopic mucosal resection with colonoscopic snare electrocoagulation.
Constriction, Pathologic ; Electrocoagulation ; Endosonography ; Female ; Humans ; Leiomyoma ; Male ; Mucous Membrane ; Rectum ; Sigmoidoscopy ; SNARE Proteins

OBJECTIVE: The purpose of this study was to evaluate the pregnancy outcomes of heterotopic pregnancy. METHODS: Retrospective analysis was done in 24 patients who were diagnosed as heterotopic pregnancy between January 2000 and April 2008. Patients' characteristics, risk factors, treatment methods and pregnancy outcomes were evaluated. RESULTS: A total of 24 patients were diagnosed as heterotopic pregnancy, all of these had undergone assisted reproductive technique. The mean age was 31.5 years and the mean gestational age at diagnosis was about 8 weeks. The most common etiology of infertility was tubal factor (54.2%). Four (16.7%) of the women had undergone ovulation induction, eighteen (75%) had undergone in vitro fertilization, but 2 patients (8.3%) had undergone assisted reproductive technique at other hospital and we didn't know the exact method. The most common of ectopic site was tube (75%), and 50% of ectopic sites were ruptured status at diagnosis. Three (12.5%) of 24 patients were diagnosed ectopic pregnancy after dilatation and evacuation due to missed abortion, 4 (16.7%) were diagnosed ectopic pregnancy and missed abortion, and 17 (70.8%) were diagnosed ectopic pregnancy and living intrauterine pregnancy at the time of diagnosis. Laparotomy was done in 3 patients (12.5%) and laparoscopy was done in 21 patients (87.5%). Among 17 patients who had normal intrauterine pregnancy, 12 (70.6%) delivered singletones, 2 (11.8%) delivered twins, but 3 (17.6%) patients were lost follow up. CONCLUSION: Heterotopic pregnancy should be considered in pregnant woman with abdominal pain or vaginal bleeding, although confirmed normal intrauterine pregnancy using ultrasonography at early gestational age, especially if the woman have treatment history for infertility. And early diagnosis and proper management are important.
Abdominal Pain ; Abortion, Missed ; Dilatation ; Early Diagnosis ; Female ; Fertilization in Vitro ; Follow-Up Studies ; Gestational Age ; Humans ; Infertility ; Laparoscopy ; Laparotomy ; Ovulation Induction ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Ectopic ; Pregnancy, Heterotopic ; Pregnant Women ; Reproductive Techniques, Assisted ; Retrospective Studies ; Risk Factors ; Twins ; Uterine Hemorrhage

OBJECTIVE: The purpose of this study was to evaluate the pregnancy outcomes of heterotopic pregnancy. METHODS: Retrospective analysis was done in 24 patients who were diagnosed as heterotopic pregnancy between January 2000 and April 2008. Patients' characteristics, risk factors, treatment methods and pregnancy outcomes were evaluated. RESULTS: A total of 24 patients were diagnosed as heterotopic pregnancy, all of these had undergone assisted reproductive technique. The mean age was 31.5 years and the mean gestational age at diagnosis was about 8 weeks. The most common etiology of infertility was tubal factor (54.2%). Four (16.7%) of the women had undergone ovulation induction, eighteen (75%) had undergone in vitro fertilization, but 2 patients (8.3%) had undergone assisted reproductive technique at other hospital and we didn't know the exact method. The most common of ectopic site was tube (75%), and 50% of ectopic sites were ruptured status at diagnosis. Three (12.5%) of 24 patients were diagnosed ectopic pregnancy after dilatation and evacuation due to missed abortion, 4 (16.7%) were diagnosed ectopic pregnancy and missed abortion, and 17 (70.8%) were diagnosed ectopic pregnancy and living intrauterine pregnancy at the time of diagnosis. Laparotomy was done in 3 patients (12.5%) and laparoscopy was done in 21 patients (87.5%). Among 17 patients who had normal intrauterine pregnancy, 12 (70.6%) delivered singletones, 2 (11.8%) delivered twins, but 3 (17.6%) patients were lost follow up. CONCLUSION: Heterotopic pregnancy should be considered in pregnant woman with abdominal pain or vaginal bleeding, although confirmed normal intrauterine pregnancy using ultrasonography at early gestational age, especially if the woman have treatment history for infertility. And early diagnosis and proper management are important.
Abdominal Pain ; Abortion, Missed ; Dilatation ; Early Diagnosis ; Female ; Fertilization in Vitro ; Follow-Up Studies ; Gestational Age ; Humans ; Infertility ; Laparoscopy ; Laparotomy ; Ovulation Induction ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Ectopic ; Pregnancy, Heterotopic ; Pregnant Women ; Reproductive Techniques, Assisted ; Retrospective Studies ; Risk Factors ; Twins ; Uterine Hemorrhage

Primary malignant melanoma of the anorectum is rare, representing about 1% of all colorectal carcinoma and less than 1% of all melanomas. The most common symptom of malignant melanoma of the anorectum is anal bleeding and this is often misdiagnosed as hemorrhoids. A 72-year-old female patient was admitted due to intermittent anal bleeding for 6 months. Colonoscopic examination showed a large exophytic mass with an irregularly ulcerated and greenish-brown pigmentation on the anus and the examination also simultaneously showed a submucosal tumor-like lesion in the rectum that was located 5 cm from the anal verge. Light microscopy of the tumor revealed malignant melanocytes and the tumor cells reacted positively for immunohistochemical staining with S-100 protein and HMB-45. Distant metastasis to the brain was detected on brain MRI.
Aged ; Anal Canal ; Brain ; Colorectal Neoplasms ; Female ; Hemorrhage ; Hemorrhoids ; Humans ; Light ; Melanocytes ; Melanoma ; Microscopy ; Neoplasm Metastasis ; Pigmentation ; Rectum ; S100 Proteins ; Ulcer