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

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*

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

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

OBJECT: Transforming growth factor-beta (TGF-beta) is involved in many physiological and pathophysiological processes, such as cell growth, differentiation, inflammation, and tissue repair. It is not yet clear whether the presence of this cytokine has deleterious or protective effects for neurons in a given pathophysiological condition. Several authors have demonstrated that TGF-beta has been shown to rescue cultured neurons from excitotoxic and hypoxic cell death and to reduce infarct size after focal cerebral ischemia in mice and rabbits. The present study investigated the effect of diazepam on the expression of TGF-beta in rat brain tissue after inducing transient cerebral ischemia. METHODS: Ten male rats were killed after a mild and reversible ischemic damage produced by a 15-minutes occlusion of both carotid arteries without occlusion of the vertebral arteries. Five ischemia-treated and 5 sham-operated rats were injected with 10 mg/kg diazepam and vehicle, respectively at 30 minutes, and again 90 minutes following the onset of reperfusion. After 1, 2 and 7 days following the reperfusion, brains were removed from control, sham-operated, and ischemia-treated with or without diazepam-injected groups, then immunohistochemistry and Western blotting for TGF-beta were performed. Cerebral cortices and hippocampi were sectioned from ischemia-treated, shamoperated and control group rats, and stained using cresyl violet. RESULTS: When the immunoblot-results of TGF-beta expression were analyzed using a image analysis system, TGF-beta expression were increased in ischemia-treated without diazepam-injected rats, and decreased in ischemia-treated with diazepam-injected rats at 2 and 7 days after reperfusion compared to control and sham-operated groups. Cresyl violet staining became intense in ischemia-treated without diazepam-injected group and became unclear in ischemia-treated with diazepam-injected group compared to sham-operated and control groups, respectively. CONCLUSION: Diazepam influenced the TGF-beta expression in the brain of ischemia-treated rats.
Animals ; Blotting, Western ; Brain Ischemia ; Brain* ; Carotid Arteries ; Cell Death ; Cerebral Cortex ; Diazepam* ; Humans ; Immunohistochemistry ; Inflammation ; Ischemic Attack, Transient* ; Male ; Mice ; Neurons ; Rabbits ; Rats* ; Reperfusion ; Transforming Growth Factor beta ; Vertebral Artery ; Viola

The incidence of intussusception in adults is quite low. A preoperative diagnosis was quite difficult due to the atypical clinical features, but the success rate of preoperative diagnosis of intussusception has improved with the advances in abdominal US and CT. However, the value of colonoscopy in making a preoperative diagnosis is unclear. The incidence of multiple primary cancer of the colon and rectum can vary widely. We report a case of intussusception in a patient who had synchronous cecal and sigmoid colonic cancer. A 71-year-old man was visited our hospital for diarrhea and general weakness. The abdominal US and CT revealed a mass lesion in the cecal area. Preoperative colonoscopy confirmed the lesion to be cecal cancer with a synchronous sigmoid colon cancer. In conclusion, the rarity of these synchronous cancers may result in a misdiagnosis. Therefore, a preoperative colonoscopy or postoperative colonoscopy might be useful.
Adult ; Aged ; Cecal Neoplasms ; Colon* ; Colon, Sigmoid* ; Colonic Neoplasms* ; Colonoscopy ; Diagnosis ; Diagnostic Errors ; Diarrhea ; Humans ; Incidence ; Intussusception* ; Rectum ; Sigmoid Neoplasms*