No abstract available.
Adenomatous Polyposis Coli* ; Carcinoid Tumor*

Although it is well known that the respiratory failure is a major cause of death in most patients with chronic neuromuscular disease, predominant respiratory dysfunction without severe involvement of limb muscles is an unusual complication of mitochondrial myopathy in adult age. We experienced two cases of mitochondrial myopathy with severe involvement of respiratory function and only mild involvement of limb muscles. One is a 16 year old female and another is a 22 year old male. The diagnosis is based on morphologic characteristics of "ragged red fibers" under the light microscope and abnormal mitochondrias on the electron microscope in the muscle biopsy.
Adolescent ; Adult ; Electromyography ; Female ; Human ; *Mitochondria, Muscle/ultrastructure ; Muscular Diseases/*complications ; Respiration, Artificial ; Respiratory Insufficiency/*etiology/therapy

Cancer metabolism as a field of research was founded almost 100 years ago by Otto Warburg, who described the propensity for cancers to convert glucose to lactate despite the presence of oxygen, which in yeast diminishes glycolytic metabolism known as the Pasteur effect. In the past 20 years, the resurgence of interest in cancer metabolism provided significant insights into processes involved in maintenance metabolism of non-proliferating cells and proliferative metabolism, which is regulated by proto-oncogenes and tumor suppressors in normal proliferating cells. In cancer cells, depending on the driving oncogenic event, metabolism is re-wired for nutrient import, redox homeostasis, protein quality control, and biosynthesis to support cell growth and division. In general, resting cells rely on oxidative metabolism, while proliferating cells rewire metabolism toward glycolysis, which favors many biosynthetic pathways for proliferation. Oncogenes such as MYC, BRAF, KRAS, and PI3K have been documented to rewire metabolism in favor of proliferation. These cell intrinsic mechanisms, however, are insufficient to drive tumorigenesis because immune surveillance continuously seeks to destroy neo-antigenic tumor cells. In this regard, evasion of cancer cells from immunity involves checkpoints that blunt cytotoxic T cells, which are also attenuated by the metabolic tumor microenvironment, which is rich in immuno-modulating metabolites such as lactate, 2-hydroxyglutarate, kynurenine, and the proton (low pH). As such, a full understanding of tumor metabolism requires an appreciation of the convergence of cancer cell intrinsic metabolism and that of the tumor microenvironment including stromal and immune cells.
Biosynthetic Pathways ; Carcinogenesis ; Glucose ; Glycolysis ; Homeostasis ; Kynurenine ; Lactic Acid ; Metabolism ; Oncogenes ; Oxidation-Reduction ; Oxygen ; Proto-Oncogenes ; Protons ; Quality Control ; T-Lymphocytes ; Tumor Microenvironment ; Yeasts

No abstract available.
Colony-Stimulating Factors* ; Granulocytes* ; Humans ; Isotretinoin* ; Leukemia, Promyelocytic, Acute* ; Wound Infection* ; Wounds and Injuries*

One of the least frequently encountered nongliomatous intraspinal neoplasm is the teratoma. Tumors that are not dermoid or epidermoid cyst have been reported as being teratomatous or teratoid when they do not have tissue derived from all three germ layers and when they are clearly most closely related to the trigerminal teratoma. Authors described an illustrated case report of teratoid cyst of the spinal cannal, summarized the previous report cases, and discuss the classification and origin of these tumors.
Classification ; Dermoid Cyst ; Epidermal Cyst ; Germ Layers ; Lumbosacral Region* ; Teratoma

In children, primary tumors of the third ventricle are uncommon. The majority of the lesion were infiltrating astrocytoma of the anterior portion of the third ventricle. Tumors within the third ventricle were benign, encapsulated, and respectable with good prognosis. But most surgerns have considered this tumors to be inoperable;accordingly shunting procedures followed by radiotherapy has been the treatment of choice. We recently experienced a case of astrocytoma which entirely filled the third ventricle with hemorrhage and reviewed the literatures.
Astrocytoma* ; Child ; Hemorrhage ; Humans ; Prognosis ; Radiotherapy ; Third Ventricle*

A 77-year-old woman was admitted to this hospital for evaluation of chest pain for 3 days. On physical examination, icteric sclerae, inspiratory crackles on both lower lung field and normal heart sounds were observed. Electrocardiograms showed pathologic Q waves with ST elevations in the precordial leads(V1-V4). Chest X-rays showed mild pulmonary edema with anteroseptal wall akinesia. Cardiac enzyme studies were compatible with AMI. Hematologic investigation revealed severe thrombocytopenia and microangiopathic hemolytic anemia. Coagulation profiles were normal. Coombs test, sucrose lysis test, anti-platelet antibody and antinuclear antibody were all negative. Urinalysis showed albuminuria(+++) and microscopic hematuria. Initial therapy with aspirin, nitrate, morphine and prednisolone was started. Ten hours after admission, she developed agitation, aphagia and confusion with progression to coma. Computed tomography of the brain was normal. Five units of fresh frozen plasma were infused. After one day, platelet counts slightly increased. But cardiogenic shock ensued and she died despite cardiopulmonary resuscitation. AMI has not been reported in association with TTP. This patient had no risk factors for coronary artery disease and no previous history of angina. TTP was clinically diagnosed with confidence by excluding other known cause of microangiopathic hemolytic anemia with thrombocytopenia. Coronary angiogram and bone marrow examination could not be performed due to a rapidly fatal course. The etiology of AMI in this patient was not confirmed, but clinical evidence strongly supported etiologic association with TTP.
Aged ; Anemia, Hemolytic ; Antibodies, Antinuclear ; Aspirin ; Bone Marrow Examination ; Brain ; Cardiopulmonary Resuscitation ; Chest Pain ; Coma ; Coombs Test ; Coronary Artery Disease ; Dihydroergotamine ; Electrocardiography ; Female ; Heart Sounds ; Hematuria ; Humans ; Lung ; Morphine ; Myocardial Infarction ; Physical Examination ; Plasma ; Platelet Count ; Prednisolone ; Pulmonary Edema ; Purpura, Thrombotic Thrombocytopenic ; Respiratory Sounds ; Risk Factors ; Sclera ; Shock, Cardiogenic ; Sucrose ; Thorax ; Thrombocytopenia ; Urinalysis

OBJECTIVES: Septic shock is characterized by the circulatory failure including vasodilation, hyporeactivity to vasoconstrictor agents and organ ischemia in association with multiple organ failure and increased platelet aggregation and blood coagulation. In the present study, we investigated the preventive effects of N-nitro-L-arginine methyl ester (L-NAME, 30mg/kg, i.p.), a non-selective nitric oxide synthase (NOS) inhibitor, S-methylisothiourea sulfate (SMT, 5mg/kg, i.p.) and pentoxifylline (PTX,10mg/kg, i.p.) on the multiple organ dysfunction in a rat model of circulatory shock induced by bacterial endotoxin (E. coli lipopolysaccharide: LPS) and discussed the mechanism underlying the development of multiple organ failure. METHODS: The effect of each other N-nitro-L-arginine methyl ester(L-NAME, 30 mg/kg, i.p.), a non-selective nitric oxide synthase(NOS) inhibitor, S-methyli-sothiourea sulfate(SMT, 5mg/kg, i.p.) and pentoxifylline (PTX, 10mg/kg, i.p.) were comparatively evaluated following inducing circulatory shock by means of infusion of bacterial endotoxin to the rat model. RESULTS: 1) The systemic mean arterial blood pressure decreased by 48.7mmHg and vascular hyporeactivity to noradrenaline injection(1 g/kg, i.v.) upon intravenous administration of LPS. 2) Endotoxemia for 6hours resulted in little change in the numbers of white blood cells and neutrophils but a significant reduction in the numbers of platelets. The variables were not affected by the inhibitors. 3) Endotoxemia for 6hours caused a significant increase in serum nitric oxide level (P<0.01) which was inhibited by SMT, but not by L-NAME and PTX. 4) Upon injection of LPS, serum creatinine(0.65+/-0.08mg/dl) and urea(28.7+/-5.9mg/dl) were significantly elevated to 0.92+/-0.12 (P<0.05) and 54.3+/-2.1mg/dl (P< 0.01). These elevated levels were significantly attenuated by PTX but not by L-NAME and SMT. 5) Endotoxemia for 6 hours resulted in a significant increases in serum ALT(988.8+/-28.2 IU/L, P<0.01) and AST levels(1470.5+/-396.5 IU/L, P<0.01) from basal levels of ALT(67.8+/- 11.7IU/L) and AST(170.3+/-14.8IU/L). These increased activities were significantly attenuated by PTX, but not by L-NAME and SMT. The level of LDH(1279.8+/-156.2IU/L) was significantly increased by LPS treatment to 2932.0+/-519.9IU/L (P<0.05), which was inhibited by PTX. 6) Upon LPS treatment, the myeloperoxidase activity in the lung homogenate was significantly increased by LPS treatment (P<0.05), whereas that in the liver showed less change. The increased activity was reduced by PTX (P<0.05), but not by L-NAME and SMT. 7) The level of serum malondialdehyde, an index of lipid peroxidation by oxygen free radicals, was little influenced by LPS. CONCLUSION: Based on these results, it is summarized that PTX characteristically inhibited the development of multiple ogran dysfunction in a murine model of endotoxemia. Thus, it is concluded that the formation of TNF and increased activity of neutrophils may importantly contribute to the development of LPS-induced endotoxemia.
Administration, Intravenous ; Animals ; Arterial Pressure ; Blood Coagulation ; Endotoxemia ; Free Radicals ; Ischemia ; Leukocytes ; Lipid Peroxidation ; Liver ; Lung ; Malondialdehyde ; Models, Animal ; Multiple Organ Failure ; Neutrophils ; NG-Nitroarginine Methyl Ester ; Nitric Oxide ; Nitric Oxide Synthase ; Norepinephrine ; Oxygen ; Pentoxifylline* ; Peroxidase ; Platelet Aggregation ; Rats* ; Shock ; Shock, Septic ; Vasoconstrictor Agents ; Vasodilation

The usher syndrome (US) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. It is the most common cause of the hereditary combined deafness-blindness in the western world. Three different types of US are recognized by clinical criteria. The US type I has severe to profound hearing loss, vestibular dysfunction, and prepubertally diagnosed retinitis pigmentosa, while the US type II has moderate to severe hearing loss, normal vestibular function, and later onset of retinitis pigmentosa. The US type III has a progressive hearing loss and retinitis pigmentosa with variable vestibular involvement. The diagnosis is confirmed by medical history and thorough otoscopical, audiologic, vestibular, and ophthalmological examinations. We have recently experienced a case of the US type I and report this with a brief review of the related literature.
Deaf-Blind Disorders ; Diagnosis ; Hearing Loss ; Hearing Loss, Sensorineural ; Retinitis Pigmentosa ; Usher Syndromes* ; Western World

OBJECTIVES: This study was to explore the association between alcohol dependence and five candidate genes related to the metabolism of alcohol and the enzymes of the suspected sites in CNS. METHODS: The genotype and allele frequencies of five candidate genes in 128 male hospitalized patients who met DSM-IV criteria for alcohol dependence were compared with 128 age-matched healthy male control subjects using polymerase chain reaction and restriction fragment length polymorphism. A logistic regression analysis was applied in order to exclude the reciprocal interactions among five candidate genes. RESULTS: The NN genotype frequency of the ALDH2 gene was significantly higher in alcoholic patients than in control subjects(chi-square test, p<0.001). No difference in frequency was found in the other four genes. In a logistic regression analysis, the odds ratio for alcohol dependence in the NN genotype of the ALDH2 gene and AG or GG genotypes of the N glycosylation site on the ASA gene were 130.312(95% confidence interval, 17.22-986.43) and 2.344(95% confidence interval, 1.128-4.871), respectively. CONCLUSION: The result reiterates the association of the ALDH2 gene polyporphism and the alcohol dependence. Logistic regression analysis additionally suggested that the N-glycosylation site on the ASA gene was associated with alcohol dependence.
Alcoholics ; Alcoholism* ; Diagnostic and Statistical Manual of Mental Disorders ; Gene Frequency ; Genotype ; Glycosylation ; Humans ; Logistic Models ; Male ; Metabolism ; Odds Ratio ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length