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*

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

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*

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

Cytomegalovirus (CMV) colitis is common among immunocompromised patients, and often diagnosed by pathologic confirmation because it is associated with a diverse spectrum of clinical and endoscopic features. However, Crohn's disease has no definitive diagnostic criteria, but longitudinal ulcers and cobble stone appearance are accepted as typical endoscopic features of Crohn's disease. An 83 year-old male with a history of radiotherapy for hypopharyngeal cancer visited our hospital with a complaint of melena for 1 week. His colonoscopic exam showed multiple longitudinal ulcers along the entire colon. Most of the ulcers were longer than 4 cm, these endoscopic findings were suspected as typical endoscopic features of Crohn's disease. Pathologic reports revealed multiple inclusion bodies with CMV on immunohistochemistry. He was finally diagnosed as having CMV colitis, and received a 3 week-course of intravenous ganciclovir. A colonoscopic follow-up showed complete healing of the multiple longitudinal ulcers, and he is doing well now without further treatment.
Aged, 80 and over ; Antiviral Agents/therapeutic use ; Colitis/*diagnosis/etiology/pathology ; Colonoscopy ; Crohn Disease/diagnosis ; Cytomegalovirus Infections/*diagnosis/drug therapy/pathology ; Ganciclovir/therapeutic use ; Humans ; Immunohistochemistry ; Injections, Intravenous ; Male ; Tomography, X-Ray Computed

BACKGROUND AND OBJECTIVES: Age and gender are known to influence the mechanisms of paroxysmal supraventricular tachycardia (PSVT), but large scale data regarding this subject is limited. In addition, data regarding the mechanisms of PSVT in the Korean population is limited. In this study, we sought to investigate the different mechanisms of PSVT according to age and gender in Korean patients. SUBJECTS AND METHODS: Database of 3,176 patients diagnosed with PSVT excluded atrial flutter or atrial fibrillation and referred for electrophysiologic study from 1986 to 2004 was retrospectively analyzed. The mechanisms of PSVT were classified as: WPW syndrome (WPW), atrioventricular reentrant tachycardia (AVRT) due to a concealed bypass tract (CBT), atrioventricular nodal reentrant tachycardia (AVNRT), atrial tachycardia (AT). RESULTS: The mean age was 40.7+/-16.0 (1-90) and 53.3% of the patients were male. The mean age of females was significantly higher than males. (43.0+/-16.1 vs. 38.6+/-15.6, p<0.001) Overall, the dominant mechanism of tachycardia was AVRT at 62.6% (WPW: 31.1%, CBT: 31.5%), compared to AVNRT at 34.1 and AT at 3.1%. This was mainly due to the predominance of AVRT (74.2%; WPW: 38.1%, CBT: 361%) in male. The mechanisms of PSVT differed according to gender with 63.2% (1257/1988) of AVRT patients being males where as 64.6% (700/1084) of the AVNRT patients were females. The distribution of PSVT mechanisms differed according to gender. In males, the proportions of AVNRT : CBT : WPW were 22.7 : 36.1 : 38.1%, whereas in females the proportion was 47.2 : 26.3 : 23.0%. Age had a significant influence upon the mechanism of PSVT in both genders with an increasing proportion of AVNRT and a decreasing proportion of AVRT in the older age groups. AVRT was the dominant mechanism of PSVT in all age groups for males, where as AVNRT was the dominant mechanism of PSVT for females over 50 years of age. CONCLUSION: The mechanism of PSVT differs significantly according to age and gender. This may be due to the increased degeneration of accessory pathway with age and difference in the conduction properties of the accessory pathway according to gender. In Koreans, the overall dominant mechanism of PSVT was AVRT mainly due to it a greater male population.
Atrial Fibrillation ; Atrial Flutter ; Female ; Gender Identity ; Humans ; Male ; Retrospective Studies ; Tachycardia ; Tachycardia, Atrioventricular Nodal Reentry ; Tachycardia, Supraventricular* ; Wolff-Parkinson-White Syndrome