Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are two clinically different presentations of isovaleric acidemia, with about half the patients presenting with an acute severe neonatal form and about half with a chronic intermittent forrn. The difference in clinical presentation may not be a consequence of differing severities of the causative mutation, but a result of the timing of application of catabolic stress or the ability to form isovalerylglycine. We described here clinical and organic acid analytical findings of brothers with chronic intermittent form of isovaleric acidemia. (J Korean Pediatr Soc 2000;43:828-831)
Humans ; Hypothermia ; Intellectual Disability ; Isovaleryl-CoA Dehydrogenase ; Lethargy ; Metabolism ; Seizures ; Siblings* ; Vomiting

No abstract available.
Mycobacterium bovis*

The status of left ventricular (LV) intrinsic contractile function in pure rheumatic mitral stenosis is an unsettled issue. Although the overall LV ejection performance is reduced in a number of patients with MS, it is the product of the interaction of four variables; intrinsic myocardial contractile state, end-diastolic myocardial length(preload), afterload and LV myocardial mass. Although LV intrinsic contractility in MS has been found to be normal in previous studies, we found it to be decreased on the basis of newer techniques for assessing cardiac mechanics. Reliable load-independent indexes of intrinsic contractility using M-mode echocardiography are end-systolic pressure or end-systolic meridian wall stress to end-systolic volume or dimension ratio and fractional fiber shortening to end-systolic stress relations. We assessed LV intrinsic myocardial contractile state as measured by the aforementioned methods in patients with pure rheumatic MS. The results were as follows; 1) The clinical characteristics are no statistical significance of differences between the 2 groups. 2) Preload (LV end-diastolic volume index) was increased in patients with MS(77+/-23 VS 67+/-21 ml/m2, p<0.05). Fractional fiber shortening and LV ejection fraction were significantly lower in patients with MS(31+/-7 VS 40+/-7%, 66+/-9 VS 77+/-8%, p<0.001). 3) End-systolic stress was significantly elevated in the patient population compared with the control subjects (70.1+/-18 VS 50.5+/-10 dynes-cm2x103, p<0.001) The increased in end-systolic stress in the presence of reduced systolic blood pressure(106+/-8 VS 116+/-7mmHg, p<0.001) was due to a higher end-systolic volume index(26+/-12 VS 15+/-6ml/m2 p<0.005) and reduced systolic wall thickening (1.13+/-0.2 VS 1.54+/-0.2cm, p<0.001). 4) The end-systolic stress to volume index ratio and systolic pressure to end-systoli volume ratio were significantly lower in patients with MS(p<0.001). Relation between LV end-systolic wall stress and fractional shortening in patients with MS superimposed on 95% confidence limits of values in 105 normal control subjects derived from a previous study(r=-0.58, p<0.005). Thirty-six(75%) patients were below the 95% confidence limits of normal values.
Blood Pressure ; Echocardiography ; Humans ; Mechanics ; Mitral Valve Stenosis* ; Reference Values

Mycobacteria cause diseases which occur the world over and which carry a considerable burden in morbidity, mortality and social problems. A battery of monoclonal antibodies specific for mycobacterial antigens would provide a useful tool for rapid diagnosis of mycobacterial diseases. Fourteen monoclonal antibodies to perchloric acid soluble antigen of M. tuberculosis were produced. Immunoglobulin isotypes of monoclonal antibodies were ten of immunoglobulin G2a, two of IgG3, and two of IgM. By means of Western blotting, monoclonal antibody detected the antigen of 54kD in TB-P. In the immunofluorescence assay, the monoclonal antibody showed a positive reaction with intact M. tuberculosis bacilli, M. tuberculosis in the pulmonary tissue of tuberculous patient and M. bovis BCG.
Antibodies, Monoclonal* ; Blotting, Western ; Diagnosis ; Fluorescent Antibody Technique ; Humans ; Immunoglobulin G ; Immunoglobulin Isotypes ; Immunoglobulin M ; Immunoglobulins ; Mortality ; Mycobacterium bovis ; Social Problems ; Tuberculosis

A myocardial beidge is an anatomic arrangement in which an epicardial coronary artery becomes engulfed for a limited segment by mycardial fibers. Myocardial bridges are not uncommon finding at coronary angiography and are identified by the systolic narrowing of the affected artery, mainly the left anterior descending coronary artery. The significance of myocardial beidges is controversial. These are frequently found at autopsy, and have been associated with episodic angina, tachcardia-induced ischemia amd sudden death during strenuous exercise. It has been suggested that clinical mamifestations of myocardial ischemia could be the result of severe reductions in the myocardial blood flow during the systole caused by the mylcardial bridge. We report two cases of myocardial damage occuring in a previous asymptimatic patients, hacing myocardial beidge in a left anterior descending coronary artery. This report strengthens the view that myocaridal bridges may, on occasion, cause ischemis
Arteries ; Autopsy ; Coronary Angiography ; Coronary Vessels ; Death, Sudden ; Humans ; Ischemia ; Myocardial Ischemia ; Systole

No abstract available.
Gastrointestinal Stromal Tumors* ; Hemorrhage*

At the time in vitro fertilization and embryo transfer, patients with unsuitable endometrium recovered by hormone. However, the overtreatment of hormone causes indispositionly the uterus internal secretion and finally induces endometriosis. Therefore, this study was done to inverstigate the effects of interleukin-2, which was known to differentiator and proliferator of T cells, on proliferation of the endometrial stromal cells in vitro. We have exammined the effects of interleukin-2, on the proliferation of bovine endometrial stromal cells in vitro, assessed by ['H]-thymidine incorporation and MTT assay methods. Results indicate that we isolated endometrial stromal cells from bovine uterus and established in vitro culture system. And interleukin-2 showed distint stimulatory effect on proliferation of the established stromal cells. These stimulative effects were not affected by estrogen and progesterone indirectly. In conclusion, these data imply that interleukin-2 may proliferate bovine endometrial stromal, cells, and it provides clue for understanding of direct actions of cytokines on the endometriat cells.
Cytokines ; Embryo Transfer ; Endometriosis ; Endometrium ; Estrogens ; Female ; Fertilization in Vitro ; Humans ; Interleukin-2 ; Interleukins* ; Progesterone ; Stromal Cells* ; T-Lymphocytes ; Uterus

Bilateral absence of the patella as an isolated congenital abnormality is an extremly rare condition. Three members in a family were found to be afflicted with the condition. Clinical examination failed to reveal any stigmata of hereditary osteo-onychodysplasia.
Christianity ; Congenital Abnormalities ; Humans ; Nail-Patella Syndrome ; Patella

We report one case of aseptic necrosis of both talus which has developed without any evidence of previous trauma. Aseptic necrosis of the talus is known to occur after any trauma which result in iterruption the blood supply to talus. Atraumatic aseptic necrosis of talus is extremely rarre condition. Some cases of atraumatic aseptic necrosis of talus were repoted by some authers, in whom Garcia described the first case in 1928. Most of the reported atraumatic aseptic necrosis were due to long term steroid therapy for unrelated medical problems and others were related to Alcoholism, Sepsis and Tuber culosis. ln this case we think for it may be caused or contributed by steroid therapy.
Alcoholism ; Necrosis ; Sepsis ; Talus

It has been shown that wornen with endometriosis have several immunological defects. The effect of interleukin-2 (IL-2) for the treatment of induced endometriosis in rat was studied. The results obtained are as followings: proliferation of epithelium is increased, and the inner surface is undulated with 1.5 nM IL-2. In 7.5 nM IL-2, the epithelial cells are changed to columar ones, and secretory hobs are observed at the apex of individual cell. Secretory activity of epithelium is increased with 0.5 nM IL-2, and apoptosis of the epithelial cell is observed in 15 nM IL-2. The levels of progesterone and estradiol in sera of rat were increased after treatment with IL-2 and were highest in the concentration of 1.5 nM IL-2. The results of this study can be a guide in the development of new therapeutic approaches for the treatment of endometriosis.
Animals ; Apoptosis ; Endometriosis ; Epithelial Cells ; Epithelium ; Estradiol ; Female ; Interleukin-2* ; Progesterone ; Rats*