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Biomedical subjects

J Koizumi

Publications and source records attributed to J Koizumi.

At least 91 records · Page 5Linked to original sources
PubMed1993

[New approach to pathogenesis of genetic hyperlipoproteinemias].

Genetic hyperlipoproteinemias are produced by defects or abnormalities of several enzymes, apolipoproteins and transfer proteins relating to lipoprotein metabolism. Abnormalities of the LDL receptor cause familial hypercholesterolemia (FH) and the deficiency of cholesteryl-ester transfer protein (CETP) causes familial hyperalphalipoproteinemia. Here, abnormalities of the LDL-receptor genes and CETP gene are described. More than 70 mutants of LDL-receptor gene have been reported, and we discovered 4 mutants in the Hokuriku district of Japan. Compared with FH-Tonami-1, FH-Tonami-2 showing a partial defect of the LDL-binding domain of the receptor, is a genetically determined mild type of FH. Only 10% of the LDL receptor abnormalities in FH have been clarified, and the causes of the remaining 90% are unknown at present. CETP catalyzes the transfer of cholesteryl ester from HDL to other lipoproteins. We found a familial hyperalphalipoproteinemia produced by the CETP deficiency. A point mutation in the splice donor site of intron 14 in the CETP gene was found in all Japanese patients with CETP deficiency. CETP deficiency produces an antiatherogenic lipoprotein profile in high HDL-cholesterol level and low IDL- and LDL-cholesterol levels. We developed a rapid screening method for the splicing defect of CETP gene, by means of primer-specific restriction map modification. The frequency of the mutated allele in the general population was estimated to be 0.81%, and the mutant was frequent in Japanese subjects with hyperalphalipoproteinemia. In summary, the detection of gene abnormalities is essential for understanding lipoprotein abnormalities and clinical manifestations in genetic hyperlipoproteinemias.

Adult↗
PubMed1992

Serum apolipoproteins in heterozygous familial hypercholesterolemia.

In order to characterize the abnormalities of the lipoprotein profile in familial hypercholesterolemia (FH), serum apolipoprotein AI, AII, B, CII, CIII, and E levels were determined by the turbidimetric immunoassay in 48 patients with heterozygous FH. Apolipoprotein B levels in FH were about 2.5 fold higher (203 +/- 48 mg/dl, mean +/- S.D.) than the 30 age-matched normolipidemic control subjects (84 +/- 13 mg/dl). Significant increments of apolipoprotein CII, CIII, and E levels were observed in FH (4.6 +/- 1.6, 11.0 +/- 3.6 and 6.4 +/- 1.7 mg/dl, respectively) as compared with those in normal subjects (3.0 +/- 0.9, 7.7 +/- 1.6 and 4.5 +/- 1.1 mg/dl, respectively). Apolipoprotein AI and AII levels in FH were 130 +/- 27 and 32 +/- 6.0 mg/dl, respectively, which were not significantly different from the levels in normal subjects (131 +/- 18 and 31 +/- 5.4 mg/dl, respectively). The ratio of low density lipoprotein (LDL) cholesterol to apolipoprotein B was significantly higher in FH (1.3 +/- 0.3) than that in normal subjects (1.2 +/- 0.1). This indicates that the LDL of FH was cholesterol-rich in comparison with that of normal subjects. The ratio of high density lipoprotein (HDL) cholesterol to apolipoprotein AI in FH (0.34 +/- 0.07) was significantly lower than that in normal subjects (0.39 +/- 0.05). This difference might possibly be produced by an abnormal HDL metabolism of FH patients, a topic which remains to be elucidated by further investigation.

Adult↗
PubMed1992

Effects of long-term anticonvulsant therapy on copper, zinc, and magnesium in hair and serum of epileptics.

The effects of long-term anticonvulsant therapy on copper (Cu), zinc (Zn), and magnesium (Mg) in the serum and hair were investigated in epileptics. Hair concentrations of Cu in both male and female epileptics, Zn in male epileptics, and Mg in female epileptics were significantly decreased when compared with those of age-matched and gender-matched controls. Hair Cu concentrations were significantly decreased in male epileptics; a significant decrease in hair Mg concentration was observed in female epileptics when compared with schizophrenics. An increased serum Cu concentration was found in female epileptics and a decreased Zn concentration was found in male epileptics. These findings suggest that long-term anticonvulsant therapy could induce alterations in both the metabolism and distribution of Cu, Zn, and Mg.

Adult↗
PubMed1992

Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study.

An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is reported. It presented with generalized muscle atrophy, stroke-like episodes, schizophrenia-like mental disorder and progressive dementia. Serum lactate and pyruvate levels were high. In the biopsied muscles, ragged-red fibers were observed by light microscopy and aggregation of abnormal mitochondria with paracrystaline formation by electron microscopy. The most characteristic neuropathological findings were infarct-like lesions widespread in the cerebral cortex. In addition, this case showed some unusual pathological features: (1) diffuse moderate fibrillary gliosis in the whole cerebral and cerebellar white matter, which might have been due to metabolic disturbances; (2) several focal lesions with demyelination and numerous spheroids in the pontocerebellar fibers; and (3) marked degeneration of the posterior columns and spinocerebellar tracts. Electron microscopic examination revealed that abnormal mitochondria were markedly aggregated in smooth muscle cells and endothelium of the cerebral and cerebellar blood vessels. These fine structural findings suggest a "mitochondrial angiopathy".

Acidosis, Lactic↗
PubMed1992

Enhanced cholesteryl ester transfer protein activities and abnormalities of high density lipoproteins in familial hypercholesterolemia.

Cholesteryl ester transfer protein may play a role in the cholesteryl ester metabolism between high density lipoproteins (HDL) and apolipoprotein B-containing lipoproteins. To investigate relationship between HDL and cholesteryl ester transfer protein (CETP) activity in the development of atherosclerosis, the present study has focused on CETP activity in the patients with familial hypercholesterolemia (GH). HDL-C and HDL-C/apo A-I mass ratio in heterozygous FH were lower than those in normolipidemic controls. There was a 2-fold increase in total CETP activity in incubated FH serum compared with normolipidemic controls. Assays for CETP activity in the lipoprotein deficient serum (d greater than 1.215 g/ml) were carried out by measuring the transfer of radioactive cholesteryl ester from HDL (1.125 less than d less than 1.21 g/ml) to LDL (1.019 less than d less than 1.060 g/ml). CETP activities in heterozygous FH (79 +/- 4 nmol/ml/h) was significantly higher than those in normolipidemic controls (54 +/- 6 nmol/ml/h). The increased total cholesteryl ester transfer mainly results from increased CETP activity in the d greater than 1.215 g/ml, possibly reflecting an increase in CETP mass in serum. Increased CETP activity in the d greater than 1.215 g/ml was correlated positively with IDL-cholesterol/triglyceride mass ratio (r = 0.496, p less than 0.01), and negatively with HDL-cholesterol/apo A-I mass ratio (r = -0.334, p less than 0.05). These results indicate that the enhanced CETP activities may contribute to increase risk for developing atherosclerosis in FH by changing the distribution of cholesteryl ester in serum lipoproteins.

Adult↗
PubMed1992

Low-grade mucinous cystadenocarcinoma in the spleen.

A 69-year-old man with an enlarged spleen, found by computed tomography scan to be multicystic, underwent a splenectomy. Pathological examination revealed a Low-grade mucinous cystadenocarcinoma that was histologically analogous to a mucinous tumor of the ovary. The serum level of tumor markers carcinoembryonic antigen (CEA)and CA19-9 were elevated preoperatively and returned to normal after the operation. In the absence of a primary tumor elsewhere, we considered this tumor to be primary in the spleen, and it was presumed that the tumor arose either from invaginated capsular mesothelium of the spleen or from heterotopic pancreatic or enteric tissue within the spleen.

Aged↗
PubMed1992

Auditory brain stem response (ABR) in anorexia nervosa.

Auditory brain stem responses were recorded in 20 patients with anorexia nervosa and 10 normal control subjects. Twenty patients were studied during two phases of illness, 1) anorexia nervosa group with under weight (U-AN group), and 2) anorexia nervosa group with recovered normal weight (N-AN group). Absolute latencies, interwave latencies, absolute amplitudes, and amplitude ratios were investigated. A nonsignificant difference was found among these groups as far as the latencies were concerned. Both the patients in the U-AN group and those in the N-AN group had significantly smaller amplitude ratios (III/I, IV.V/I) and absolute amplitude (V) than did the control subjects. Furthermore, a nonsignificant difference was found between the U-AN group and the N-AN group. It suggests that some dysfunction might exist in the region of the brain stem.

Adolescent↗
PubMed1992

A long-term observation on a case of epilepsy with occipital continuous spikes.

We have reported a 38-year-old female who did not show clinical seizures during continuous spikes in the left occipital area over a period of 18 years. As to the neurological findings, visual disturbance, optic nerve atrophy and right hemianopsia were almost always present. The low density area distributing from the left occipital area to the left temporal one on the CT revealed to be porencephaly. From the clinical findings obtained in this case, the lesion responsible for the occipital continuous spikes could be ascribed to be functional abnormality of the visual pathway connecting the left lateral geniculate body with the left occipital cortex.

Adult↗
PubMed1992

An autopsied case of dentatorubropallidoluysian atrophy with atypical pathological features.

This is a report of an autopsied case of dentatorubropallidoluysian atrophy (DRPLA) with atypical neuropathological findings. The patients was a 31-year-old female. Her clinical symptoms were epileptic seizures, cerebellar ataxia, choreoathetosis and dementia. A neuropathological examination revealed the fibrillary gliosis in various areas of the CNS and severe degeneration in the cerebellar cortex and nucleus fasciculi dorsalis in addition to a marked degeneration of the dentatorubropallidoluysian systems. The present case is diagnosed neuropathologically as DRPLA associated with the findings of chronic diphenylhydantoin intoxication and epileptic brain damage.

Atrophy↗
PubMed1992

A computerized tomographic study in patients with delusional and non-delusional depression.

This is a description of a computerized tomographic study of 45 non-delusional depressed, 29 delusional depressed patients and 77 neurotic control subjects. The cerebral atrophy ratio (CAR) on the three different slices and the ventricular ratio (VBR) of the anterior horn and the body of the lateral ventricles were calculated, analyzed and compared using Student's t test. Compared to the control subjects, the non-delusional depressive patients had greater CAR values than the controls but there were no significant differences of VBR values between the two groups. The patients with delusional depression had significantly larger CAR and VBR values than the non-delusional depressives and control subjects. The delusional depressives had greater brain atrophy than the non-delusionals and it was suggested that organic cerebral factors may have etiological significance in the depressions, especially the delusional depressives.

Adult↗
PubMed1992

Convulsive seizures in schizophrenic patients induced by zotepine administration.

One hundred twenty-nine schizophrenic inpatients who were administered zotepine were studied to see if they had zotepine-induced convulsive seizures. Twenty-two patients had grand mal seizures during the administration periods. The incidence of the seizure was 17.1% and was higher than that in previous reports. The average duration of zotepine administration before the seizure was 48.3 days. The incidence of the seizure was closely related to the daily dosage of zotepine, but there was no significant correlation between the daily dosage of zotepine and the duration of administration before the onset of the seizure. The patients who received a combined administration with the higher dose of zotepine and other phenothiazines were revealed to be more likely to have the seizure. In addition, young patients and patients with a past history of head injuries showed a high incidence of the seizure with the administration of zotepine.

Adolescent↗
PubMed1992

Eating disorder and schizophrenia.

Five cases with eating disorders (one case with anorexia nervosa alone, 4 cases with anorexia nervosa and bulimia nervosa) complicated with schizophrenia and 3 cases of bulimia nervosa complicated with schizophrenia were reported. The eating disorders and schizophrenia were diagnosed according to the diagnostic criteria of DSM-III-R. As to the type of schizophrenia, 4 patients were of an undifferentiated type and 4 cases were of a disorganized type. Regarding the prepsychotic personality, 6 of the 8 cases showed schizothyme personality traits. All the patients showed depressive symptoms which are relatively common in eating disorders. In all the patients, significant social or school life difficulties persisted and a resumption of premorbid functioning was not seen. The possibility of an affinity between anorexia nervosa and schizophrenia was discussed.

Adult↗
PubMed1992

Changes in personality and emotion following bilateral infarction of the posterior cerebral arteries.

Remarkable changes in personality, emotion and behavior were observed in a 66-year-old female with bilateral infarction of the medial inferior portion at the temporo-occipital region. Aggressiveness, emotional lability and indifference were noted in the patient as psychiatric manifestation. No definite delirium, however, was observed. A neuroradiological examination revealed the lesions located at the territory of the posterior cerebral artery, which involved the hippocampus, the parahippocampal gyri, the fusiform gyri and the lingual gyri. Therefore, the psychiatric disturbances and the neuropsychological symptoms presented here are attributed to these lesions with the multiple infarctions in the brain. The present case is noteworthy for its unique changes in personality and emotion which in the literature have not reported to be caused following the vascular accident of the bilateral posterior cerebral artery.

Aged↗
PubMed1992

[Response of coronary arteries to intracoronary acetylcholine infusion in patients with familial hypercholesterolemia].

Loss of the vasodilator response to acetylcholine (Ach), an endothelium-dependent vasodilator, has been demonstrated in animal models of atherosclerosis and in atherosclerotic coronary arteries of humans studied in vitro. The response of normal coronary arteries on angiograms to the intracoronary injection of Ach in patients with familial hypercholesterolemia (FH) was studied. Ten patients with FH (mean age, 53.6 +/- 6.5 years) with a mean serum total cholesterol of 334.8 mg/dl and 12 controls (mean age, 55.8 +/- 14.5 years) with a total cholesterol level of 183.6 mg/dl, and with normal coronary arteries on angiograms were studied. Patients with clinical histories suggestive of coronary spastic angina were excluded from this study. A bolus of 20, 50 micrograms Ach and 2 mg isosorbide dinitrate (ISDN) were infused into the left coronary artery in each subject. Changes in coronary diameters were measured after each injection with a videodensitometric analysis system. In the control group, the diameter at the middle segments of the left anterior descending artery (LAD) and at the proximal and middle segments of the left circumflex artery (LCX) increased significantly in response to Ach; whereas, in the FH group the diameter at the proximal segments of the LAD decreased significantly. There were significant differences in the coronary diameter changes in response to 50 micrograms Ach at the proximal and middle segments of the LAD and the LCX between the 2 groups. In contrast, between these 2 groups, there were no significant differences in the vasodilator responses to ISDN, a direct vascular smooth muscle dilator. The vasodilator response of coronary artery to Ach was diminished in patients with FH.

Acetylcholine↗
PubMed1991

Serum lipoprotein lipid concentration and composition in homozygous and heterozygous patients with cholesteryl ester transfer protein deficiency.

Six homozygous, 10 heterozygous and 8 unaffected subjects in a CETP deficient family confirmed by CETP gene analysis were studied to characterize serum lipoproteins separated by ultracentrifugation, and to examine the relations between CETP levels and lipoprotein lipid concentration and composition. The serum CETP levels were measured by radioimmunoassay using 125I-labeled monoclonal antibodies (TP2). The serum CETP levels in the homozygotes were undetectable and those in the heterozygotes were significantly lower than those in the unaffected subjects (1.5 +/- 0.1 vs. 2.2 +/- 0.5 microgram/ml, P less than 0.01). In the HDL fraction, esterified cholesterol (EC) levels in the homozygotes were significantly increased (P less than 0.01), and those in the heterozygotes were slightly increased (n.s.), in comparison with those in the unaffected and the normolipidemic controls. The EC levels in the IDL fractions were lower in the homozygotes than in the normolipidemic controls. The EC/triglyceride (TG) molar ratios in IDL, the fraction obtained from the homo- and heterozygotes, were lower than those from the unaffected subjects (P less than 0.01 and less than 0.01, respectively), and the EC/TG ratios in the HDL fraction obtained from the homo- and heterozygotes were higher than those from the unaffected subjects (P less than 0.01 and n.s., respectively). Linear regression analysis showed that positive correlates of the serum CETP levels in all subjects were: IDL-EC (r = 0.463), HDL-TG (r = 0.603) and VLDL- and IDL-EC/TG ratio (r = 0.698 and 0.843).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Progressive systemic sclerosis with mental disorder.

We present a clinical case of a 43-year-old female with progressive systemic sclerosis, Basedow's disease, atrial fibrillation and diabetes mellitus. She twice developed exacerbations of a psychotic state. She showed a depressive state followed by a paranoic hallucinatory state and stupor. Electroencephalograms revealed slow abnormal records both in psychotic and remitting periods and 123I IMP SPECT of the brain showed a low blood flow in the psychotic stage. A case of progressive diffuse sclerosis with a paranoic hallucinatory state is rarely reported. As her Basedow's disease had been well controlled, the psychotic symptoms of the present case are regarded as organic hallucinosis and organic delusional disorder due to progressive diffuse sclerosis.

Adult↗