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

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

We evaluated 1,000 consecutive endometrial curettage samples obtained over a 30 month period. The clinico-pathologic correlation was analysed according to Hendrickson's five criteria based on the practical view. The causes of uterine bleeding in decreasing order of occurrence were as follows: 1) hormonal imbalance lesions (49.2%) encompassing glandular and stromal breakdown suggesting anovulatory bleeding, proliferative phase endometrium, and disordered proliferative endometrium, 2) pregnancy associated lesions (24.2%), 3) organic lesions (13.5%), 4) endometrial hyperplasia (6.9%), and 5) inadequate specimen (6.2%). According to age, pregnancy related lesions were most frequent in the third decade. In the fourth, fifth, and sixth decades, hormonal imbalance lesions were the most common cause. In approximately 30% of the samples, there were two or three morphologic patterns such as anovulatory bleeding with an endometrial polyp, postabortal bleeding with inflammation, and glandular-stromal dissociation with a polyp, which suggested there was a variable histologic morphology in the same disease spectrum. Using immunohistochemical techniques we studied the hormonal dependency of bcl-2 oncoprotein in anovulatory bleeding, endometrial hyperplasia, and proliferative endometrium. 70% of anovulatory bleeding specimens showed weak positivity in the epithelial cytoplasm, and all cases of endometrial hyperplasia and carcinoma showed a strong positivity. These results suggest that there is a estrogenic hormonal dependency of apoptosis in the endometrium.
Apoptosis ; Biopsy* ; Curettage ; Cytoplasm ; Endometrial Hyperplasia ; Endometrium* ; Estrogens ; Female ; Hemorrhage ; Inflammation ; Polyps ; Pregnancy ; Uterine Hemorrhage*

Maternal phenylketonuria(PKU) is a disorder which appears when a pregnant woman with PKU doesn't take low phenylalanine diet, phenylalanine level of the fetus rises and interferes with fetal development and can easily result in abortion, low birth weight, microcephaly, cardiac anomaly or mental retardation. To prevent these effects of untreated maternal PKU, low phenylalanine diet should be taken to maintain the serum phenylalanine level less than 10mg/dl throughout the pregnancy. We experienced a case of maternal PKU in a female baby born to a 26-year-old woman with PKU who didn't take low phenylalanine diet until eighth moth of pregnancy. She showed intrauterine growth retardation, ventricular septal defect and patent ductus arteriosus. We report a case of maternal PKU with a brief review.
Adult ; Diet ; Ductus Arteriosus, Patent ; Female ; Fetal Development ; Fetal Growth Retardation ; Fetus ; Heart Septal Defects, Ventricular ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Microcephaly ; Moths ; Phenylalanine ; Pregnancy ; Pregnant Women

No abstract available.
Meconium* ; Peritonitis*

Routine use of commercially available antisera against hepatitis B core antigen(HBcAg) has permitted a reevaluation of the histochemical distribution of the antigen in liver tissue. HBcAg, classically described almost exclusively in the nucleus, was found with a very high frequency in the cytoplasm of liver cells as well. To elucidate the biologic significance of HBcAg expression and its relation to the natural course of hepatitis B virus(HBV) infection, the patterns of activity in 33 needle liver biopsies of HBsAg carriers were analysed. A good correlation of liver HBcAg with disease activity was demonstrated. HBcAg was present in the hepatocyte nuclei(nHBcAg) or cytoplasm(cHBcAg), or in both(mixed). Pure nHBcAg was seen mainly in non-aggressive reactive liver tissue and cHBcAg was predominantly associated with chronic active hepatitis(95%). The results suggest that expression of HBcAg correlates with the liver pathology and the possibility of HBcAg to be an immunological target for T cell mediated hepatocyte damage.
Biopsy

No abstract available.
Congenital Abnormalities* ; Osteotomy* ; Recurrence*

No abstract available.
Trisomy*

BACKGROUND: This study examined the oral health condition of diabetic patients and evaluated the oral health behavior through a questionnaires survey. In addition, this study provide primary informations for developing a dental health program for diabetic patients. MATERIALS AND METHODS: There were fifty patients with diabetes mellitus or glucose tolerance (controlled by a community health center at Dalsung-Gun in Daegu City and fifty non- diabetic age, gender and location matched control subjects. Data were collected by a direct oral examination and by questionnaires from 100 subjects in July, 2004. RESULTS: The DMFT (Decay, Missing, Filling Teeth) mean values in diabetics were significantly higher than that in non-diabetics (p< 0.05). The decay teeth index and Filling teeth index was similar in the two groups, but the mean Missing teeth index was significantly higher in the diabetics than in non-diabetics. The PI (Periodontal Index) mean values were significantly higher in the diabetics than in the non-diabetics (p< 0.01). There was a significant difference between the diabetics and non diabetics aged in their 50s and 60s, but there was no difference with those aged in their 70s. The oral hygiene status was similar in the two groups. The average number of remaining teeth was significantly lower in the diabetics (16.1+/-10.35) than in the non-diabetics (20.04+/-8.70) (p< 0.05). CONCLUSION: In the diabetic patients, the M component of the DMFT index was found to be higher than the controls. Diabetics lose their teeth mainly due to periodontal disease, which is supported by the increased PI mean values.
Community Health Centers ; Daegu ; Diabetes Mellitus ; Diagnosis, Oral ; Glucose ; Humans ; Oral Health ; Oral Hygiene* ; Periodontal Diseases ; Periodontal Index* ; Surveys and Questionnaires ; Tooth

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