Dieulafoy's vascular malformation is a rare cause of massive gastrointestinal bleeding. Most often it occurs in stomach within 6 cm from the gastroesophageal junction. Only a few cases have been reported to occur in the small intestine and colon. Occasionally, Dieulafoy's lesion of small intestine is difficult to recognize because of rarity, a paucity of symptoms and negative findings on barium studies. Therefore, this lesion needs to be considered in a patient with massive lower gastrointestinal bleeding. We report a case of Dieulafoy's vascular malformation in ileum 2 m proximal to ileocecal value in a 41-year-old woman who visited emergency clinic because of hematemesis, dizziness and vomiting. Small intestine revealed a wide-caliber artery within the submucosa showing intimal thickening, medial muscular hypertrophy and thrombosis.
Adult ; Arteries ; Barium ; Colon ; Dizziness ; Emergencies ; Esophagogastric Junction ; Female ; Hematemesis ; Hemorrhage* ; Humans ; Hypertrophy ; Ileum* ; Intestine, Small ; Stomach ; Thrombosis ; Vascular Malformations* ; Vomiting

PURPOSE: To evaluate the MR imaging findings of patients with mesial temporal sclerosis. MATERIALS AND METHODS:We retrospectively reviewed the MR imaging findings of 116 patients diagnosed by MRI as suffering from mesial temporal sclerosis. In 18 of these, the condition was also histologically proven. RESULTS: Among the 116 patients, volume loss of the hippocampus was found in 95 (81.9%) and signal changes of the hippocampus in 53 (45.7%). Decreased signal intensity in the hippocampus on T1-weighted images was found in 13 (11.2%) and increased signal on T2-weighted images in 50 (43.1%). Signal abnormality in the hip-pocampus on both T1- and T2-weighted images was found in ten, and associated extrahippocampal abnormali-ties, as follows, in 20 (17.2%): atrophy of the fornix (n=10), atrophy of the mammillary body (n=8), atrophy of the amygdala (n=10), atrophy or increased T2 signal intensity of the anterior thalamic nuclei (n=2), atrophy of the cingulate gyrus (n=2), atrophy or increased signal intensity of the anterior temporal lobe (n=8), and cere-bral hemiatrophy (n=4). CONCLUSION: A high T2 signal and atrophy of the hippocampus are the most common and important MRI findings of mesial temporal sclorosis. Other abnormal findings, if any, which may be found in extrahippocampal structures such as the fornix, mammillary body and temporal lobe, should, however, also be carefully observed
Amygdala ; Anterior Thalamic Nuclei ; Atrophy ; Epilepsy ; Gyrus Cinguli ; Hippocampus ; Humans ; Magnetic Resonance Imaging* ; Mamillary Bodies ; Retrospective Studies ; Sclerosis* ; Temporal Lobe

Purpose : The main genetic contribution to type 1 diabetes susceptibility is the human leukocyte antigen (HLA) class II gene. Several non-HLA chromosomal regions are also known to be involved. We studied the association of HLA class II and non-HLA candidate genes, which are cytotoxic T lymphocyte antigen-4 (CTLA4), tumor necrosis factor (TNF), lymphotoxin-alpha(LT-alpha, and vitamin D receptor (VDR) gene, polymorphisms with disease susceptibility in Korean children with type 1 diabetes.Methods : Fifty Korean children with type 1 diabetes (29 girls and 21 boys) and 166 healthy Koreans were investigated in this study. HLA class II alleles were determined by PCR-SSP (sequence-specific primer) and PCR-SSOP (sequence specific oliogonucleotide probe) method. CTLA4 exon 1 polymor phism was analyzed by PCR-SSCP (single strand conformation polymorphism), and TNF promotor and LT-alphagene polymorphism by PCR-RFLP (restriction fragment length polymorphism), respectively. VDR gene polymorphisms were analyzed by PCR-RFLP using restriction enzyme FokI, ApaI, TaqI, and BsmI. Results : The frequencies of HLA-DRB1*04, DRB1*09, and DQB1*04 were significantly increased and those of HLA-DRB1*14, DRB1*15, DQB1*05 and DQB1*06 were significantly decreased in the patients with type 1 diabetes compared with the control subjects. No significant differences in the distribution of CTLA4 exon 1, TNF promotor, LT-alpha and VDR gene polymorphisms were observed between the patients with type 1 diabetes and the control subjects. Conclusion : These data suggest that HLA-DRB1*04, DRB1*09, and DQB1*04 are susceptible genes for type 1 diabetes, whereas HLA-DRB1*14, DRB1*15, DQB1*05, and DQB1*06 are protective genes in Korean children. CTLA4 exon 1, TNF promotor, LT-alpha and VDR gene polymorphisms are not associated with susceptibility to type 1 diabetes in Korean children.
Alleles ; Child* ; Diabetes Mellitus, Type 1* ; Disease Susceptibility* ; Exons ; Female ; Genes, MHC Class II ; Humans ; Leukocytes ; Lymphocytes ; Receptors, Calcitriol ; Tumor Necrosis Factor-alpha

PURPOSE: The need for continuing Growth Hormone(GH) replacement after adolescence in patients with childhood-onset GH deficiency has been recognized. The purpose of this study was to evaluate the abnormalities of lipid profiles in young adults with childhood-onset hypopituitarism who discontinued GH therapy after the completion of height growth. METHODS: Nine male patients(mean age:22.4+/-3.3 years) with childhood-onset hypopituiatarism in whom GH treatment had been discontinued after final height was achieved were included. Their body mass index(BMI) and serum levels of total cholesterol, triglyceride(TG), high-density lipoprotein(HDL) cholesterol, and low-density lipoprotein(LDL) cholesterol were measured. The relationships of duration after GH discontinuation, age, and BMI to lipid profiles were anaylzed. RESULTS: BMI increased significantly from 21.8+/-1.9 kg/m2 before GH discontinuation to 23.0+/-3.0 kg/m2 after GH discontinuation(P<0.05). Serum levels of total cholesterol, TG, HDL cholesterol, and LDL cholesterol were 217.3+/-33.4, 237.8+/-128.2, 42.1+/-7.1, and 127.4+/-27.2 mg/dL, respectively, 3.1+/-2.0 years after GH discontinuation. Percentage of patients who had total cholesterol > or = 200 mg/dL, TG > or = 150 mg/ dL, LDL cholesterol > or = 140 mg/dL, and HDL cholesterol < or = 40 mg/dL were 77.8%, 88.9%, 44.4%, and 33.3%, respectively. All subjects had some abnormalities of lipid profiles. A significant positive correlation was found between duration after GH discontinuation and serum levels of total cholesterol and TG(r=0.84, P<0.01; r=0.83, P<0.01). A significant positive correlation was also found between age and serum levels of total cholesterol and TG(r=0.86, P<0.01; r=0.81, P<0.01). There were no correlations between BMI and serum lipid levels. CONCLUSION: Most of young adult patients with childhood-onset hypopituitarism had abnormal lipid profiles by 1-5 years after discontinuation of GH treatment. These data suggest that continuous GH treatment after completion of height growth is necessary.
Adolescent ; Adult* ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Growth Hormone* ; Humans ; Hypopituitarism* ; Male ; Young Adult

PURPOSES: To evaluate the effect of hormone replacement therapy(HRT) on serum insulin-like growth factors(IGFs) levels and to investigate if changes in serum IGFs reflect changes in BMD after HRT in postmenopausal women. MATERIAL & METHODS: IGF-I and IGF-II were measured by radioimmunoassay after Bio-spin P-10 seperation in sera obtained every 3 months from postmenopausal women who was taking premarin alone (premarin group; n=17) or premarin-medroxyprogesterone acetate(MPA group; n=42) for 1 year. Also, bone mineral density(BMD) were determined before and 1 year after HRT by dual energy X-ray absorptiometry(DEXA). All statistics were performed by Paired t-test, student's t-test, repeated measures ANOVA test, Pearson's coefficient. RESULTS: HRT increased BMD of the lumbar spine and proximal femur in both premarin group and MPA group, but any difference in degreee of increase in BMD was not noted between premarin group and MPA group. Compared with pretreatment levels, serum IGF-I levels decreased at 3, 6 and 12 months after therapy only in latter group whereas serum IGF-II levels increased at 6 and 12 months after HRT in both groups. Changes in serum IGF-I and IGF-II levels during therapy did not show any difference by the bone response to HRT. Changes in serum IGF-II levels after HRT did not correlated with the 1 year changes in BMD at any skeletal sites studied, but changes in serum IGF-I levels from pretreatment to 6 months after HRT was negatively correlated with change in BMD of Ward's triangle. CONCLUSION: HRT influences serum IGF levels in postmenopausal women and changes in serum IGF-I levels may predict the changes in BMD of Ward's triangle after HRT.
Bone Density* ; Estrogens, Conjugated (USP) ; Female ; Femur ; Hormone Replacement Therapy* ; Humans ; Insulin-Like Growth Factor I ; Insulin-Like Growth Factor II ; Postmenopause ; Radioimmunoassay ; Spine

Hereditary angioedema is a rare genetic disease transmitted with a autosomal dominant trait result of a quantitative or functional defect of Cl inhibitor. We report three cases of heriditary angioedema from the same famly respectively the 35-year-old sister, the younger bn)ther of 32, and the younger sister of 20 The older sister died due to her airway being obstructel by acute laryngeal edema, and her you igirbrother and sister experienced recurrent episodes oswelling on the hand and forearm. The ore we examined the two patients serum complement levils to confirm diagnosis. In both, the r;ults showed decreased levels of Cl inhibitor and C4 which are the evidence of hereditary a giedema. The younger sister has been administered danazol (600mg/day) to prevent angioedem or 8 weeks, and we have not yet found a recurrenc of he symptoms. However, well cont ol the dosage of danazol because amenorchea has developec.
Adult ; Angioedema ; Angioedemas, Hereditary* ; Complement System Proteins ; Danazol ; Diagnosis ; Forearm ; Hand ; Humans ; Laryngeal Edema ; Siblings

The nm23 gene was originally identified from murine melanoma cell lines of varying metastatic potential. A strong association has been observed between reduced expression of nm23 gene and acquisition of metastatic behavior in some tumor cells including breast cancer and melanoma, but not in others such as colon cancer, neuroblastoma, and cervical cancer. It was proposed that nm23 may function as a suppressor gene for tumor metastasis. It has recently been found that the sequence of nm23 and NDP-kinase(NDP-K) was identical. Mortality associated with human breast carcinoma is almost entirely due to subsequent metastasis, but the molecular basis of this metastasis is not understood. Elucidation of the genetic control of metastatic propensity of a tumor is important in determining prognosis and choice of therapy. The purpose of this study was to investigate the relationship of nm23 protein expression with axillary lymph node metastasis and other prognostic factors. Using an immunohistochemical technique and employing a polyclonal antibody to nm23 protein, we have determined nm23 expression in a series of 72 infiltrating ductal carcinomas of the breast. Immunostaining for the nm23 gene product have heterogenous cytoplasmic and nuclear staining in 61 patients(84.7%). Sections were scored according to relative abundance(1 = less than 25% of the cells, 2 = 26-75%, 3 = 76-100%). In 61 patients with positive immunostaining, the staining was scored as 1 in 41.6%, 2 in 18.0%, and 3 in 40.2%. The staining of tumor cells was greater than that in normal epithelial cells and stromal cells. No relationship was found between nm23 expression and lymph node metastasis, histologic grade, tumor size, estrogen receptors or progesterone receptors. Therefore, nm23 protein is increased in neoplastic tissues but no correlation with metastatic potential could be demonstrated. The biological mechanism of over-expression of nm23 in malignant cells and its role in tumor progression remain to be determined.
Breast Neoplasms ; Breast* ; Carcinoma, Ductal* ; Cell Line ; Colonic Neoplasms ; Cytoplasm ; Epithelial Cells ; Genes, Suppressor ; Humans ; Lymph Nodes ; Melanoma ; Mortality ; Neoplasm Metastasis ; Neuroblastoma ; Prognosis ; Receptors, Estrogen ; Receptors, Progesterone ; Stromal Cells ; Uterine Cervical Neoplasms

The nm23 gene was originally identified from murine melanoma cell lines of varying metastatic potential. A strong association has been observed between reduced expression of nm23 gene and acquisition of metastatic behavior in some tumor cells including breast cancer and melanoma, but not in others such as colon cancer, neuroblastoma, and cervical cancer. It was proposed that nm23 may function as a suppressor gene for tumor metastasis. It has recently been found that the sequence of nm23 and NDP-kinase(NDP-K) was identical. Mortality associated with human breast carcinoma is almost entirely due to subsequent metastasis, but the molecular basis of this metastasis is not understood. Elucidation of the genetic control of metastatic propensity of a tumor is important in determining prognosis and choice of therapy. The purpose of this study was to investigate the relationship of nm23 protein expression with axillary lymph node metastasis and other prognostic factors. Using an immunohistochemical technique and employing a polyclonal antibody to nm23 protein, we have determined nm23 expression in a series of 72 infiltrating ductal carcinomas of the breast. Immunostaining for the nm23 gene product have heterogenous cytoplasmic and nuclear staining in 61 patients(84.7%). Sections were scored according to relative abundance(1 = less than 25% of the cells, 2 = 26-75%, 3 = 76-100%). In 61 patients with positive immunostaining, the staining was scored as 1 in 41.6%, 2 in 18.0%, and 3 in 40.2%. The staining of tumor cells was greater than that in normal epithelial cells and stromal cells. No relationship was found between nm23 expression and lymph node metastasis, histologic grade, tumor size, estrogen receptors or progesterone receptors. Therefore, nm23 protein is increased in neoplastic tissues but no correlation with metastatic potential could be demonstrated. The biological mechanism of over-expression of nm23 in malignant cells and its role in tumor progression remain to be determined.
Breast Neoplasms ; Breast* ; Carcinoma, Ductal* ; Cell Line ; Colonic Neoplasms ; Cytoplasm ; Epithelial Cells ; Genes, Suppressor ; Humans ; Lymph Nodes ; Melanoma ; Mortality ; Neoplasm Metastasis ; Neuroblastoma ; Prognosis ; Receptors, Estrogen ; Receptors, Progesterone ; Stromal Cells ; Uterine Cervical Neoplasms

No abstract available.
Breast* ; Humans*

46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules, with altered hormonal levels at puberty. Less frequently, some sexual ambiguities are found, always with sterility owing to reduced testicular development. The origin of male phenotype in 46,XX male could be the results of at least three different mechanisms:translocations of Y sequence, including the SRY gene, to an X chromosome or to an autosome(about 90% of cases); a mutation in a yet unknown X-linked or autosomal gene in the testis-determinating pathway, and cryptic Y chromosome mosacism. We experienced a case of SRY-positive 46,XX male in a 21-year-old man with small testes. (J Korean Soc Pediatr Endocrinol 2003;8:184-188)
Adolescent ; Azoospermia ; Genes, sry ; Gynecomastia ; Humans ; Hyalin ; Hypogonadism ; Incidence ; Infant, Newborn ; Infertility ; Male* ; Phenotype ; Puberty ; Seminiferous Tubules ; Testis ; X Chromosome ; Y Chromosome ; Young Adult