Tumor necrosis factor-n (TNF - alpha) involved in the pathogenesis of multiple sclerosis and contribute to the degeneration of oligodendrocytes as well as neurons. TNF - alpha is produced by miocroglia and astrocytes, which also produce hormones and cytokines that influence its biological activity. Astrocytes, the major glial cells in the CNS, are capable of producing TNF - alpha at both the mRNA and protein levels in response to interleukine-1 (IL-1) or TNF - alpha. Two immunosuppressive cytokines, transforming growth factor - beta (TGF - beta) and IL-10, have been shown to influence glial cell function. TGF - beta can modulate the activity of glial cells by inhibiting interferon-gamma (IFN - gamma) induced expression of class II major histocompatibility complex (MHC) molecules on astrocytes and microglia. To explore the role of astrocytes in the production of TNF - alpha, astrocytes were pretreated with IL-10 or TGF - beta and then stimulated with IL-1p to determine their effects on TNF - alpha production. The secretion of TNF - alpha by human fetal astrocytes was markedly inhibited by TGF - beta at a low concentration. In contrast IL-10 had no effect on TNF - alpha mRNA level. These results show that TGF - beta may regulate the expression of TNF - alpha in activated human fetal astrocytes.
Astrocytes* ; Cytokines ; Gene Expression* ; Humans* ; Interferon-gamma ; Interleukin-10 ; Major Histocompatibility Complex ; Microglia ; Multiple Sclerosis ; Necrosis ; Neuroglia ; Neurons ; Oligodendroglia ; RNA, Messenger ; Transforming Growth Factors

Thyroid hemiagenesis is a development failure of one of the thyroid lobes, predominantly in females with a left lobe. The associated disease in the remaining thyroid lobe include benign adenoma, multinodular goiter, hyperthyroidism, chronic thyroiditis, and carcinoma etc. We report a very rare case of thyroid hemiagesesis with hyperthyroidism, thyroid cancer, and ectopic thymus. A 43-year-old female presented with hyperthyoidism and thyroid nodule. Thyroid scan with 99mTcO4 revealed cold nodule in left lobe with absent right lobe. The patient underwent thyroid exploration. Because nodule in the remaining thyroid lobe proved to be a thyroid cancer on frozen biopsy, total thyroidectomy was performed. There was a thyroid-like tissue at the right side (scan 'absent' side) and removed. Pathology confirmed that the removed tissue from right side was thymus. There has been no report in world literatures of such case; in one patient, thyroid hemiagenesis, hyperthyroidism, thyroid carcinoma, and ectopic thymus coexists. We report the case and review the literature on thyroid hemiagenesis and ectopic thymus.
Adenoma ; Adult ; Biopsy ; Female ; Goiter ; Humans ; Hyperthyroidism* ; Pathology ; Sodium Pertechnetate Tc 99m ; Thymus Gland* ; Thyroid Gland* ; Thyroid Neoplasms ; Thyroid Nodule ; Thyroidectomy ; Thyroiditis

No abstract available.
Astrocytes* ; Gene Expression* ; Humans* ; Polymerase Chain Reaction*

No abstract available.
Astrocytes* ; Humans*

PURPOSE:The lesion of Congenital Lipoid Adrenal Hyperplasia has been suggested to be in the 1st step of steroidogenesis of conversion of cholesterol to pregnenolone by P450scc. In 1995, however, the molecular defect of this disease has been located in the transport of cholesterol into mitochondria due to defective regulatory protein called Steroidogenic Acute Regulatory Protein(StAR), while the enzyme P450scc itself is normal. This genetic study using automatic sequence analyzer aimed at elucidating the molecular defect in the StAR gene of the two patients. METHODS:This study was performed on the two patients of Congenital Lipoid Adrenal Hyperplasia. Both children were phenotypically females. However, one turned out to have a karyotype of 46, XY, the other 46, XX. Genomic DNAs were extracted from their peripheral blood. We amplified the last exon, hot spot, of the StAR gene using 1 set of primer, S4, 5'-CCT GGC AGC CTG TTT GTG ATA G-3' AS4, 5'-CCT CAT GTC ATA GCT AAT CAG TG-3'. Subsequently, one PCR product have been directly sequenced by dideoxy termination method, and also the other products(patient's and her father's) have been sequenced by automatic sequence analyzer. RESULTS:The mutation was identified in the last exon of the StAR gene, substituting T for A at codon 258, replacing glutamine by stop codon in the two unrelated Korean patients with congenital lipoid adrenal hyperplasia. One patient were found to be homozygote, but the other to be heterozygote for the mutation. CONCLUSIONS:These results indicate that Korean children with congenital lipoid adrenal hyperplasia may be genetically identical as in Japanese. But, we discovered that the hot spot, codon 258, are not always homozygote. We want to emphasize the different point, and to say that we did experiece the automatic sequence analyzer successfully.
Animals ; Asian Continental Ancestry Group ; Cats ; Child ; Cholesterol ; Codon ; Codon, Terminator ; DNA ; Exons ; Female ; Glutamine ; Heterozygote ; Homozygote ; Humans ; Hyperplasia ; Karyotype ; Mitochondria ; Molecular Biology* ; Polymerase Chain Reaction ; Pregnenolone

PURPOSE: Atherosclerotic vascular disease (AVD) is a leading cause of morbidity and mortality in patients with end-stage renal disease (ESRD) on peritoneal dialysis (PD). Transforming growth factorbeta 1 (TGF-beta1) is a multifunctional cytokine that inhibits the atheromatous process. The author studied polymorphisms of the TGF-beta1 gene (-509C>T and 869T>C) as genetic susceptibility factors for AVD in PD patients. METHODS: Genotyping was carried out using the LightCycler 480 with melting curve analysis function. Prevalent vascular disease was defined by the presence of ischemic heart disease (IHD), peripheral vascular disease (PVD), cerebrovascular disease (CVD), or congestive heart failure (CHF). The presence of AVD was derived by the presence of any vascular disease (i.e., any degree of IHD/PVD/ CVD). RESULTS: In total, 109 PD patients were recruited (38.7% male, and 28.7% diabetic). The mean age was 49.1+/-14.1 years, and mean dialysis duration was 61.3+/-34.1 months. The most frequent genotype at -509C>T was CT (49.5%) and at 869T>C was TC (47.7%). No significant differences were observed in the genotype distributions of the investigated TGF-beta1 (CC:CT:TT, 18.5%:55.6%:25.9% vs 26.8%:47.6%:25.6%, Chi2=0.246, p=0.884; TT:TC:CC, 18.5%:55.6%:25.9% vs 28.0%:45.1%:26.8%, Chi2=1.188, p=0.552) between AVD group and no AVD group. CONCLUSION: TGF-beta1 gene polymorphisms at both -509C>T and +869T>C were not associated with an increased risk for prevalent vascular diseases. Further studies are required to evaluate the role of TGF-beta1 as a candidate gene.
Atherosclerosis ; Dialysis ; Freezing ; Genetic Predisposition to Disease ; Genotype ; Heart Failure ; Humans ; Kidney Failure, Chronic ; Male ; Mortality ; Myocardial Ischemia ; Peripheral Vascular Diseases ; Peritoneal Dialysis* ; Polymorphism, Genetic ; Transforming Growth Factor beta1 ; Vascular Diseases*

The causes of pyogenic liver abscess has been known as biliary tract disease or intrabadominal infection but the large proportions of the patients has no apparent underlying disorders. Recently colonic mucosal lesions were reported in patients with cryptogenic liver abscess and it has been suggested that colonic mucosal break may play a role in developing liver abscess in otherwise healthy patients. We experienced a patient of severe recurrent liver abscess complicated with endophthalmitis only 3 months after successful treatment of initial cryptogenic liver abscess and a polypoid colon cancer was discovered by chance. It seems prudent to proceed colonoscopic examination in patients with cryptogenic liver abscess especially when it is recurrent.
Biliary Tract Diseases ; Colon ; Colonic Neoplasms ; Endophthalmitis ; Humans ; Klebsiella pneumoniae ; Liver ; Liver Abscess ; Liver Abscess, Pyogenic ; Recurrence

Thromboembolic events are rare among systemic complications of inflammatory bowel disease; however, they are a significant cause of mortality when they occur. Several reports have considered thromboembolic events in patients with ulcerative colitis presenting with venous or arterial thromboembolism, such as cerebral thrombosis, deep vein thrombosis, pulmonary thromboembolism, portal vein thrombosis, or mesenteric vein thrombosis. However, increased coagulability related to Crohn's disease is extremely rare compared with that of ulcerative colitis. We report a case of a 42-year-old man with complicated portal hypertension that occurred due to extensive portal vein and mesenteric vein thrombosis. He had a monozygotic twin brother who was also in remission with Crohn's disease. The patient showed protein C and protein S deficiencies; however, he recovered with early anticoagulation therapy.
Colitis, Ulcerative ; Crohn Disease ; Humans ; Hypertension, Portal ; Intracranial Thrombosis ; Mesenteric Veins ; Portal Vein ; Protein C ; Protein S ; Pulmonary Embolism ; Siblings ; Thromboembolism ; Thrombosis ; Twins, Monozygotic ; Venous Thromboembolism ; Venous Thrombosis

We describe a 58-year-old woman who was incidentally found to have gastric and colonic polyposis, hypoalbuminemia, cutaneous hyperpigmentation and onychodystrophy (Cronkhite-Canada syndrome). Histology of polyps from the stomach showed features of juvenile or retention type (hamartomatous) polyps with Helicobacter pylori (H. pylori) infection. The large pedunculated colonic polyps showed hamartomatous polyps with adenomatous component and polypectomy was performed. After the treatment with H. pylori eradication and omeprazole, the gastric polyposis, hypoalbuminemia and anemia regressed, and endoscopic polypectomy of gastric polyps were performed. After the continuous use of omeprazole for 14 months, the patient showed complete resolution of clinical features of Cronkhite-Canada syndome. The experience of this case suggests that eradication of H. pylori and proton pump inhibitor treatment might be considered in patients with gastric polyposis combined with Cronkhite-Canada syndome.
Anti-Ulcer Agents/*therapeutic use ; Colonic Polyps/complications/microbiology/pathology ; Female ; Helicobacter Infections/complications/*drug therapy ; *Helicobacter pylori ; Humans ; Hyperpigmentation/pathology ; Middle Aged ; Nails, Malformed/pathology ; Omeprazole/*therapeutic use ; Polyps/*complications/microbiology/pathology ; Proton Pumps/antagonists & inhibitors ; Stomach Neoplasms/*complications/microbiology/pathology ; Syndrome

OBJECTIVE: Left ventricular hypertrophy is common and major complication in patients with end stage renal disease (ESRD), but pathogenesis is not clear. We have used echocardiography to evaluate influential factors and contractile performance according to the geometry of left ventricle. METHODS: We measured left ventricular mass, the extent of pericardial effusion and systolic function of left ventricle with M-mode and two dimensional echocardiography in 99 cases of ESRD from March 1993 to March 1996. RESULTS: 1) Body surface area and systolic blood pressure was higher in men than those in women. But, there was no difference in LV mass index or systolic function between the sex. 2) Among the 99 patients with ESRD, 89 cases (90%) had increased ventricular mass and 10 cases had normal ventricular mass. In the left ventricular hypertrophy groups, 60 cases had concentric hypertrophy, 29 cases had eccentric hypertrophy. 3) In patients with normal ventricular mass, hypertension and pericardial effusion were less frequent than in those with left ventricular hypertrophy. In patients with concentric hypertrophy, systolic blood pressure and body surface area were increased and serum albumin was decreased as compared to patients with eccentric hypertrophy. In patients with eccentric hypertrophy, duration of dialysis was increased. But, the result of Logistic analysis showed that systolic blood pressure and serum albumin were reliable factors for the geometry of left ventricle. 4) In patients with eccentric hypertrophy, LV mass index was significantly correlated with the concentration of serum alkaline phosphatase and phosphate. But, in patients with concentric hypertrophy, any factors were not correlated with LV mass index. 5) Systolic performances such as ejection fraction and fractional shortening were decreased in patients with eccentric hypertrophy. 6) The pattern of left ventricular hypertrophy was not different among non-dialysis group, hemodialysis group and CAPD group. CONCLUSION: In patients with ESRD, left ventricular hypertrophy is a common complication and most common hypertrophic type is concentric hypertrophy. The geometry of left ventricular hypertrophy may be influenced by various factors such as systolic blood pressure and serum albumin concentration and influence on the systolic performance of left ventricle. Further study for the geometry of left ventricle and the prognosis may be necessary for the improvement of cardiovascular complications in patients with ESRD.
Alkaline Phosphatase ; Blood Pressure ; Body Surface Area ; Dialysis ; Echocardiography ; Female ; Heart Ventricles ; Humans ; Hypertension ; Hypertrophy ; Hypertrophy, Left Ventricular* ; Kidney Failure, Chronic* ; Male ; Pericardial Effusion ; Peritoneal Dialysis, Continuous Ambulatory ; Prognosis ; Renal Dialysis ; Serum Albumin