Goltz syndrome is known as a rare mesoectodermal hereditary disease, characterized by focal dermal atrophies with hernias of adipose tissue and also associated with a multitude of possible skeletal, dental, ophthalmological and other abnormalities. We experienced a case of Goltz syndrome. An one day old female newborn had focal atrophic and telangiectatic skin lesions, microphthalmia, syndactyly and urinary tract abnormality. The finding of skin biopsy was consistent with focal dermal hypoplasia. We report the case with a brief review and related literatures.
Adipose Tissue ; Atrophy ; Biopsy ; Female ; Focal Dermal Hypoplasia* ; Genetic Diseases, Inborn ; Hernia ; Humans ; Infant, Newborn ; Microphthalmos ; Skin ; Syndactyly ; Urinary Tract

Although the incidence and mortality rate of gastric cancer have been steadily declining, gastric cancer is still the fourth most common cancer in the world and more than 50% of cases occur in Eastern Asia. In Korea, gastric cancer is the second most common cancer and third cause of cancer related death. The standard surgical procedure for resectable advanced gastric cancer is D2 lymphadenectomy with radical gastrectomy. Even though R0 resection was completed, recurrence is relatively common, and contributes to the limited survival of the patients in gastric cancer. As a clinically relevant factor for detection of the recurrence, the presence of isolating tumor cells has been introduced and it is so called as ‘micrometastasis’. Numerous immunohistochemistry and molecular studies have shown that micrometastasis can be demonstrated not only in lymph nodes but also in such body compartments as the bone marrow, peritoneal cavity and blood. Herein, we review the current knowledge and evidence of the prognostic significance of micrometastasis in peritoneal, lymph node, bone marrow. Also, we discuss the current state of research on the circulating tumor cell in peripheral blood.
Bone Marrow ; Far East ; Gastrectomy ; Humans ; Immunohistochemistry ; Incidence ; Korea ; Lymph Node Excision ; Lymph Nodes ; Mortality ; Neoplasm Micrometastasis* ; Neoplastic Cells, Circulating ; Peritoneal Cavity ; Prognosis ; Recurrence ; Stomach Neoplasms*

A fracture of the humeral shaft can occur by direct or indirect injury. Most occur as a result of direct injury mechanisms such as falls from a height, direct blows, and traffic accidents. Recently, the population enjoying watersports for leisure is increasing and 'flyfish riding', in which passengers ride an inflatable raft drawn by a motorboat, may cause humeral shaft fracture as twisting and axial compression forces occur on the humeral shaft while boarding. Accordingly, the incidence of humeral shaft fracture is expected to increase as more people are expected to enjoy leisure sport activities such as 'flyfish riding'. We report 4 cases of humeral fracture that occurred during this activity in the year 2011.
Accidents, Traffic ; Humeral Fractures ; Humerus ; Incidence ; Leisure Activities ; Sports

Pyogenic liver abscess with metastatic septic complications is a rare and serious infectious disease if not treated properly. Pyogenic liver abscesses are caused by bacterial, fungal, or parasitic organisms. Escherichia coli used to be the predominant causative agent, but Klebsiella pneumoniae emerged as a major cause in the 1990s. Liver abscesses are caused by hepatic invasion via many routes, such as, the biliary tree, portal vein, hepatic artery, direct extension, or penetrating trauma. Furthermore, diabetes mellitus and malignant conditions are established important risk factors of K. pneumoniae liver abscesses and of septic metastasis, and several recent studies have asserted that K. pneumoniae liver abscess might be a presentation of occult or silent colon cancer. We report a case of K. pneumoniae liver abscess, metastatic septic pulmonary embolism, and endophthalmitis associated with diabetes and advanced gastric cancer.
Biliary Tract ; Colonic Neoplasms ; Communicable Diseases ; Diabetes Mellitus ; Endophthalmitis ; Escherichia coli ; Hepatic Artery ; Klebsiella pneumoniae ; Liver Abscess* ; Liver Abscess, Pyogenic ; Neoplasm Metastasis ; Pneumonia ; Portal Vein ; Pulmonary Embolism ; Risk Factors ; Stomach Neoplasms*

OBJECTIVE: We have previously shown that DICAM inhibits LPS-mediated macrophage differentiation. However, less is known about the exact action mechanisms of DICAM on the macrophage function and differentiation. METHODS: To induce differentiation into a resting M0 macrophage, THP-1 cells were cultured with 100 nM PMA for 24 h, and then rested for 3 days. THP-1 cells were infected with 50 moi of control LacZ- or DICAM-containing adenovirus. The RNA expression profile associated with DICAM during THP-1 differentiation was analyzed with a microarray chip and in silico analysis with Ingenuity Pathway Analysis (IPA) program. RESULTS: A disease and function analysis of the microarray data in DICAM-overexpressed THP-1 cells revealed a suppression in the expression of multiple genes involved in the response of myeloid cells and phagocytes, and an increase of genes associated with apoptosis of fibroblast cell-line, and viral infection and replication. The canonical pathway analysis also showed the most prominent changes of signaling pathways that involve inflammation responses. An upstream regulator analysis identifyingmolecules upstream of the genes that potentially explain the observed expression changes revealed that IRF7 and the genes in type 1 interferon system, such as IFNA2 and IFNAR,was significantly attenuated by DICAM. A mechanistic network analysis confirmed a direct causal association between IRF7 and type 1 interferon system. A real-time RT-PCR analysis validating the microarray data verified the significant suppression of IRFs, IFNA2, and IFNB1. CONCLUSION: These results suggest that DICAM can be a critical regulator of type 1 interferon system, which is an essential mediator in the process of intracellular infection and systemic lupus erythematosus.
Adenoviridae ; Apoptosis ; Computer Simulation ; Fibroblasts ; Inflammation ; Interferons* ; Lupus Erythematosus, Systemic ; Macrophages* ; Myeloid Cells ; Phagocytes ; RNA

BACKGROUND: A range of well characterized materials are needed for validating the performance of hepatitis B surface antigen (HBsAg) immunoassays. These materials are purchased currently from overseas manufacturers at a high cost and with limited quantity. This study was conducted to establish an HBsAg low titer performance panel for use as a national standard for validation of HBsAg immunoassays in Korea. METHODS: 476 plasma units reactive on blood donor screening were collected HBsAg was tested using 3 enzyme immunoassays (EIA) and 1 chemiluminescence immunoassay (CIA). Units reactive on the CIA assay or on 2 or more immunoassays were subjected to hepatitis B virus (HBV) DNA quantification, HBV genotyping and subtyping. Units reactive on HBV DNA quantification were confirmed for HBsAg by neutralization. Candidates for the panel were subjected to a collaborative study performed at 7 laboratories using 7 immunoassays. RESULTS: Eleven HBsAg positive units were selected for the low titer performance panel based on HBsAg immunoassay, HBV DNA quantification, HBV genotyping and subtyping results. The range of the HBsAg concentration of the panel members was 0.05~1.28 IU/mL. Two HBsAg negative units were also included as negative controls. CONCLUSION: As a result of this study, a low titer performance panel [KFDA standard (08/028); HBsAg low titer performance panel (BTRL HBV/LP)] for validation of HBsAg immunoassays has been established as a Korean national standard. Use of this panel will improve performance assessment of HBsAg immunoassays. Because the performance of immunoassays cannot be assessed properly with a limited number of panels, continuous efforts are needed to develop a range of performance panels.
Blood Donors ; DNA ; Hepatitis ; Hepatitis B ; Hepatitis B Surface Antigens ; Hepatitis B virus ; Humans ; Immunoassay ; Immunoenzyme Techniques ; Luminescence ; Mass Screening ; Plasma

BACKGROUND/AIMS: In recent years, the incidence of acute pancreatitis (AP) has been increasing. A better understanding of the etiology is directly linked to more favorable outcomes. Unfortunately, there have been reports suggesting the variation of etiologies of AP across countries. The objective of this study was to determine the etiology of AP in a general hospital of Seoul-Gyeonggi province in Korea during the past decade. METHODS: We retrospectively reviewed the medical records of consecutive patients with AP who were admitted to St. Paul's Hospital (Seoul, Korea) with an affiliation to the Catholic University of Korea between January 2003 and January 2013. RESULTS: A total of 1,110 patients were enrolled, totaling 1,833 attacks, and the most frequent cause of AP was alcohol consumption. The recurrence rate of AP was 24.5% (272/1,110), and habitual recurrence rate (more than three times) was 12.6% (140/1,110). The rate of severe AP was 4.9% (90/1,833 attacks). The mortality rate of AP was 2.6% (29/1,110 patients). The frequency of an idiopathic cause of AP was 13.3%. The recurrence rate and mortality rate of idiopathic AP were 16.2% and 5.4%, respectively. In 41.7% (10/24) of cases of idiopathic AP, microlithiasis was suspected. CONCLUSIONS: Between 2003 and 2013 in Korea, alcohol was the most frequent cause of AP in the general hospital of Seoul-Gyeonggi province of Korea. It appears that alcohol abstinence program may be necessary. Further nationwide studies would be needed to evaluate the etiologies of AP.
Alcohol Abstinence ; Alcohol Drinking ; Alcohols ; Gallstones ; Hospitals, General* ; Humans ; Incidence ; Korea* ; Medical Records ; Mortality ; Pancreatitis* ; Recurrence ; Retrospective Studies

Wernicke's encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine deficiency. Traditionally, diagnosis of WE rests on a clinical symptom triad consisting of ocular signs, altered consciousness, and ataxia. However, the complete triad is only present in a fraction of cases, which means that WE tends to be under-diagnosed, especially in nonalcoholic patients. Brain MRI of WE patients usually shows symmetrical signal intensity alterations in the thalami, mammillary bodies, and periaqueductal area, because of cytotoxic edema in the same region. These typical findings are useful diagnostic leads in WE patients with atypical symptoms. However, atypical findings can occasionally be seen in the vermis of cerebellum and cerebellar nuclei. Notably, alterations of signal intensity in the cerebellar dentate nuclei, which is a typical finding of metronidazole-induced encephalopathy (MIE), need to be distinguished according to medication history and response to thiamine.
Ataxia ; Brain ; Cerebellar Nuclei ; Cerebellum ; Consciousness ; Edema ; Humans ; Mamillary Bodies ; Metronidazole ; Thiamine ; Thiamine Deficiency ; Wernicke Encephalopathy

BACKGROUND: It is generally accepted that the most spontaneously-arising epidermal cysts might be related to follicular infundibulum and palmoplantar epidermal cyst (PPEC) has been suggested to be caused from traumatic implantation of epidermal fragments. In addition there were several recent reports of human papillomavirus (HPV) implicating in formation of PPEC and also similar reports in Korean dermatologic literature. But the latter failed to reveal the presence of HPV in PPEC or a specific type of HPV by molecular biologic methods. OBJECTIVE: We tried to identify the presence of HPV and its subtype in PPEC. METHODS: After reviewing routine histopathologic findings recalling HPV infection in 8 PPECS, we undertook immunohistochemistry using polyclonal HPV antibody and polymerase chain reactions with 3 sets of HPV primers. To confirm the actual location of HPV in cyst in situ hybridization with HPV 60 probe was also done. RESULTS: All cases showed more than one feature of HPV infection. The positive reactions were 3 out of 8 on immunohistochemistry and 5 out of 8 on polymerase chain reaction. All cases (4 of 4) were positive on in situ hybridization and they were found in the horny layer and/or wall of cysts. CONCLUSION: PPEC in Korea may show similar typical histopathologic features with those reported in Japan. The HPV were detected in almost PPEC by molecular methods and their subtype was all HPV 60.
Epidermal Cyst* ; Gammapapillomavirus* ; Humans* ; Immunohistochemistry ; In Situ Hybridization ; Japan ; Korea ; Polymerase Chain Reaction

OBJECTIVE: DICAM, a dual Ig domain containing adhesion molecule, is involved in cell-cell adhesion through direct interaction with alphavbeta3 integrin. In our previous study showing the inhibitory role of DICAM in osteoclast differentiation, we found that DICAM also has a suppressive role in macrophage, the precursor cell of osteoclast. The role of DICAM in macrophage activation at the inflammatory milieu, however, remains obscure. METHODS: Expression pattern of DICAM by inflammatory cytokines and lipopolysaccharide (LPS) was studied with RAW264.7, a murine macrophage cell line. To study the role of DICAM on macrophage activation, we stably transduced DICAM, or empty vector, into RAW264.7, and then compared the LPS-mediated activation such as spreading and TNF-alpha production. RESULTS: DICAM was abundantly expressed in the synovial tissue of collagen-induced arthritis. When we assessed the expression of DICAM in RAW264.7 cells by mediators of inflammation, inflammatory cytokines, such as TNF-alpha, IL-1beta, and IFN-gamma, and M-CSF increased the expression of DICAM; however, LPS decreased. Functionally, DICAM that stably transduced-RAW264.7 cells showed attenuation of LPS-mediated macrophage activation including spreading and TNF-alpha production. DICAM decreased the phosphorylation of JNK MAP kinase by M-CSF and LPS stimulation, which was corroborated by a decrease in the expression of ITAM-associated receptors including Trem2, Pira1, and Oscar. Finally, a recombinant ectodomain of DICAM suppressed LPS-induced activation of RAW264.7 cells. CONCLUSION: These results indicate that DICAM acts as a negative regulator of LPS-mediated macrophage activation.
Arthritis, Experimental ; Cell Line ; Cytokines ; Inflammation Mediators ; Macrophage Activation ; Macrophage Colony-Stimulating Factor ; Macrophages ; Monocytes ; Osteoclasts ; Phosphorylation ; Phosphotransferases ; Tumor Necrosis Factor-alpha