Small cell osteosarcoma is a rare form of osteosarcoma and the histological differential diagnosis from other small round cell tumors (SRCTs) is difficult. The immunohistochemical stain for MIC2 has been considered an useful diagnostic marker for Ewing's sarcoma and primitive neuroectodermal tumors but recently, other SRCTs such as malignant lymphoma and embryonal rhabdomyosarcoma also showed positive reaction. Therefore, the usefulness of MIC2 must still be proven. We experienced a case of small cell osteosarcoma of the mandible in a 25-year-old man. Histologically, the tumor consisted of small round cells that resembled those of Ewing's sarcoma. Immunohistochemically, the tumor cells expressed diffuse strong positive reaction for MIC2 gene products. However, the scanty foci of lacy osteoid material between the tumor cells seemed to be diagnostic of osteosarcoma. The histologic and immunohistochemical findings of this case suggest close relationship between small cell osteosarcoma and Ewing's sarcoma.
Adult ; Diagnosis, Differential ; Humans ; Lymphoma ; Mandible ; Neuroectodermal Tumors, Primitive ; Osteosarcoma* ; Rhabdomyosarcoma, Embryonal ; Sarcoma, Ewing*

No abstract available.
Enterocolitis, Neutropenic* ; Leukemia*

A 38-year-old man, with recurrent oral ulcers for 10 years, was admitted because of recent aggravation of odynophagia and sore throat. About 4 years earlier, he had been performed abdominal surgery for intestinal perforation. Gastrofiberscopic examination showed small round ulcers at hypiopharynx and 6cm sized longitudinal linear ulcer at mid esophagus. Biopsy specimens at mid-esophagus showed chronic inflammation. Besides oral ulcer, he had perianal ulcers and skin rashes. He was managed with steroid, colchicine and sulfasalazine under the diagnosis of esophageal involvement in Behcet's disease. After 3 months from discharge, esophagogram and gastrofiberscopic examination showed some improved appearance, but symptoms recurred for steroid tapering. He has been followed in much improved status for 8 months after discharge.
Adult ; Biopsy ; Colchicine ; Diagnosis ; Esophagus ; Exanthema ; Humans ; Inflammation ; Intestinal Perforation ; Oral Ulcer ; Pharyngitis ; Sulfasalazine ; Ulcer*

Mullerian inhibiting substance(MIS) has been known as a non-steroidal testicular Sertolicell product responsible for the regression of Mullerian duct in male embryos. More recently MIS was also found to be present in an bioactive form in the bovine and rat ovaries but the function of MIS in the ovary has not been fully delineated. In this study, in order to understand its function in the ovary the ontogeny of the production profile of MIS and the pattern of its localization in ovaries from adult normal cycling women were studied by immunohistochemical staining using the rabbit polyclonal antibody against human recombinant MIS that almost completely blocks its biological activity. MIS was detected specifically and exclusively in the cytoplasm of granulosa cells. The flattened granulosa cells in primordial follicles failed to stain for MIS, but the cuboidal cells of growing follicles stained intensely. The granulosa cells of both single and multiple layered growing follicles showed strong specific staining for MIS. Within the multiple layers of granulosa cells, closer to the oocyte, stained more intensely than those near the basement membrane. Similarly, in antral follicles, cumulus cells and periantral granulosa cells stained more intensely than those in the periphery. MIS staining waned in the mature follicles just before ovulation and could not be found in atretic follicles, corpus albicans. In conclusion, this specific localization suggest that MIS may act as an intraovarian regulator of follicular development and oocyte maturation during the adult reproductive cycle.
Adult ; Animals ; Anti-Mullerian Hormone* ; Basement Membrane ; Cumulus Cells ; Cytoplasm ; Embryonic Structures ; Female ; Granulosa Cells ; Humans* ; Male ; Oocytes ; Ovarian Follicle ; Ovary* ; Ovulation ; Rats

BACKGROUND: Mutations in the gene encoding transforming growth factor-beta induced (TGFBI) are associated with corneal dystrophies. We evaluated the diagnostic performance of the GENEDIA Avellino corneal dystrophy (ACD) mutation detection kit and GENEDIA corneal dystrophy screening master mix (Green Cross Medical Science Co., Korea) by comparing it with an in-house sequencing method. METHODS: The study group consisted of 40 patients with Avellino corneal dystrophy (ACD) and 40 patients suspected to suffer from ACD; 40 healthy individuals were used as the control. All samples used for this study were previously obtained. All results obtained using the kit were evaluated for sensitivity, specificity, and detection limit. RESULTS: The sensitivity of the GENEDIA ACD kit was 100.0% with a positive mean+/-2SD Ct (cycle threshold) value of 25.87+/-1.24 and an excellent coefficient of variation value of 0.02 in ACD group. All normal control samples were negative, indicating a specificity of 100% for the GENEDIA kit. The detection limit was set at a DNA concentration of >0.2 ng/microL. Direct sequencing results obtained using the GENEDIA master mix and the in-house method agreed for all 20 ACD samples. Additional R555W mutation detected in four ACD-suspected samples were suggestive of the diagnosis of granular corneal dystrophy type I. CONCLUSIONS: The GENEDIA ACD detection kit and master mix showed acceptable results, demonstrating high sensitivity and specificity, and may be considered for clinical application. Furthermore, the GENEDIA master mix was useful for the detection of mutations in exons 4 and 12 of the TGFBI gene.
Diagnosis ; DNA ; Exons ; Humans ; Limit of Detection ; Mass Screening* ; Methods ; Real-Time Polymerase Chain Reaction ; Sensitivity and Specificity

Adenosine A1 receptor (ADORA1) has a neuromodulatory activity in early stage of brain development. Recent studies have been suggested that a deficit in adenosinergic function may be a key factor in the pathophysiology of schizophrenia. To determine the genetic association between ADORA1 gene polymorphism and schizophrenia in Korean population, we genotyped single nucleotide polymorphism (SNP) (rs10920568, A102A, exon5) in the ADORA1 gene by using the direct sequencing. Among SNPs in the coding region of ADORA1, only one synonymous SNP's heterozygosity (rs10920568) is more than 0.05. Three hundred three control and 284 schizophrenia subjects were recruited. For the analysis of genetic data, EM algorithm, SNPStats, SNPAnalyzer, and Helixtree programs were used. Multiple logistic regression analysis with the codominant, dominant, and recessive models was performed. The genotype frequencies of rs10920568 showed statistically significant difference between schizophrenic patients and healthy control subjects. The rs10920568 SNP of ADORA1 was weakly associated with schizophrenia in the dominant model (p=0.04, odds ratio=0.70, 95% confidence interval =0.50~0.98). The result suggests that the ADORA1 gene may be associated with schizophrenia.
Adenosine ; Brain ; Clinical Coding ; Genotype ; Humans ; Logistic Models ; Polymorphism, Single Nucleotide ; Receptor, Adenosine A1 ; Schizophrenia

OBJECTIVE: This study was performed to prove the relationship between serum leptin level and bone mineral density of lumbar spine, femur neck and bone markers in postmenopausal Korean women. METHODS: We measured serum leptin, serum osteocalcin, urine deoxypyridinoline levels and bone mineral density of lumbar spine, femur neck in 88 premenopausal and 118 postmenopausal women who visited St. Vincent Hospital of Catholic University of Korea from March 1st, 2007 to December 31th, 2007. RESULTS: Statistically significant correlation was shown between serum leptin level and body mass index (BMI) in both premenopausal (r= 0.343, P<0.0001) and postmenopausal women (r=0.360, P<0.0001). And no significant correlation was observed between serum leptin level and bone mineral density (BMD) of lumbar spine and femur neck in premenopausal women (r=0.013, P=0.107 and r=0.004, P=0.425, respectively), but in postmenopausal women, there was a positive correlation between serum leptin and lumbar spinal BMD (r=0.085, P=0.02). But after the adjustment with age and BMI, the serum leptin and BMD of lumbar spine did not showed a significantly correlation in the same group (r=0.088, P=0.939). Also, no significant correlations were observed between serum leptin level and serum osteocalcin and urine deoxypyridinoline in premenopausal (r=0.004, P=0.566 and r=0.002, P=0.707, respectively) and postmenopausal women (r=0.026, P=0.096 and r=0.000, P=0.933, respectively). CONCLUSIONS: In our study, there is no significant correlation between serum leptin level and bone mineral density and bone markers in premenopausal and postmenopausal Korean women. Our own data would suggest that leptin has both negative and positive effects in bone mass regulation. Furthermore, larger clinical studies are necessary to clarify leptin's role to assess the contribution of the central and peripheral role of leptin in the overall maintenance of bone turnover.
Amino Acids ; Body Mass Index ; Bone Density ; Female ; Femur Neck ; Humans ; Korea ; Leptin ; Osteocalcin ; Postmenopause ; Spine

Segmental non-familial colonic polyposis was first reported by Chiang et al. in 1992. It is characterized by segmental distributlion of colonic polyposis usually confined to the descending colon, absence of family history of polyposis, large bowel malignancy, inflammatory bowel disease, or other pre-malignant colonic conditions. We experienced a nineteen-year-old male, who suffered from 2 years watery diarrhea about five to ten times a day, intermittent hematochezia, and weight loss of 12 kg in a year. He had no family history of colonic polyps, colon cancer, or inflammatory bowel disease. Colon study showed variable sized multiple colonic polyps on the rectum and sigmoid colon. Colonoscopy showed that 0.5 to 1.5 cm sized multiple polyps were scattered from the 6cm site to the 30cm site above the anal verge and the intervening mucosa between polyps was edematous. Colonoscopic biopsy revealed hyperplastic, adenomatous, and mixed hyperplastic and adenomatous polyps, After partial colectomy, we discovered 169 polyps from the resected specimen. After operation, diarrhea and abdominal pain had disappeared. We experienced a case of segmental non-familial polyposis and report it with review of the literatures related to it.
Abdominal Pain ; Adenomatous Polyps ; Biopsy ; Colectomy ; Colon* ; Colon, Descending ; Colon, Sigmoid ; Colonic Neoplasms ; Colonic Polyps ; Colonoscopy ; Diarrhea ; Gastrointestinal Hemorrhage ; Humans ; Inflammatory Bowel Diseases ; Male ; Mucous Membrane ; Polyps ; Rectum ; Weight Loss

Endomyocardial biopsy (EMB) is a valuable diagnostic procedure for the surveillance of cardiac allograft rejection. Interpretation of individual cases is still problematic due to variations of findings for grading of rejection and other associated lesions. We reevaluated an experience on endomyocardial biopsies to develop better diagnostic criteria for rejection and other complications. Immunohistochemical studies against cytokines were performed to assess the usefulness of the method for the diagnosis or researches. A total of 249 EMBs taken from 33 cardiac allograft recipients were reviewed. There were 25 males and 8 females. Dilated cardiomyopathy was present (24 cases) and valvular heart disease (4 cases), restrictive cardiomyopathy (3 cases) were also common conditions. We applied the grading system of the International Society for Heart Transplantation (ISHT) for the assessment of acute cellular rejection. Grades of 0, 1A, 1B, 2, 3A and 3B were 39.0%, 28.1%, 11.2%, 11.5%, 12.4% and 1.6% respectively, but 3.2% were inadequate. Thirty five episodes of grade 3A or 3B were present in 17 patients. The response to therapy was assessed using a next follow up biopsy, which revealed resolving or resolved rejection in 85% of patients. The intensity of immunohistochemical stains for IL-6 and TNF-alpha was increased in proportion to the histologic grade but Quilty lesion and cardiomyopathy also showed a positive reaction. The other pathologic findings were ischemic change, previous biopsy site, interstitial edema and fibrosis, and Quilty lesion. These findings showed usefulness of endomyocardial biopsy not only for the evaluation of cardiac allograft rejection but also for the diagnosis of associated cardiac lesions. Immunohistochemical study of the cytokines was related to the degree of inflammation rather than degree of rejection.
Allografts ; Biopsy* ; Cardiomyopathies ; Cardiomyopathy, Dilated ; Cardiomyopathy, Restrictive ; Coloring Agents ; Cytokines ; Diagnosis ; Edema ; Female ; Fibrosis ; Follow-Up Studies ; Heart Transplantation* ; Heart Valve Diseases ; Heart* ; Humans ; Inflammation ; Interleukin-6 ; Male ; Tumor Necrosis Factor-alpha

Intracapsular and paraarticular chondroma is a rare benign lesion of the large joints (mostly the knee). We report a case of intracapsular and paraarticular chondroma in the infrapatellar Hoffa's fat pad that presented as a painful palpable mass in 15-yearold woman. A physical examination revealed a firm, movable and tender mass in the infrapatellar area. Magnetic resonance images showed an ovoid, well-defined, soft tissue mass with focal calcification in the infrapatellar fat pad. The final pathology revealed an intracapsular and paraarticular chondroma.
Adipose Tissue ; Chondroma ; Female ; Humans ; Joints ; Knee ; Lower Extremity ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Physical Examination