The enzyme defects in hereditary tyrosinaemia type I.
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Biomedical subjects
Publications and source records attributed to T Kusunoki.
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The primary vagal axons and terminals in the lateral descending trigeminal complex (dlv-DLV complex) in crotaline snakes were studied following HRP injections into the vagal nerve. Labeled fibers and terminals were found in the marginal neuropil, which was made up entirely of unmyelinated fibers, i.e., C fibers. The general features of vagal input to the dlv-DLV complex in snakes with infrared sensitivity (Boidae and Crotalinae) are discussed.
Although associations of a variety of developmental abnormalities of the brain and the spinal cord with neurofibromatosis have been reported, association of a cerebral arachnoid cyst with neurofibromatosis is extremely rare. We report the second case of this association in an 8-year-old Japanese boy.
Of 299 obese children who visited our obesity clinics, 36 were found to have elevated levels of serum transaminases by routine laboratory examination. Liver biopsy was carried out in 11 children. Based on the criteria of Adler and Schaffner (1979), the biopsy specimens were studied histologically. As a result, fatty liver (Group I) was observed in three patients, fatty hepatitis (Group II) in two, fatty fibrosis (Group III) in five, and fatty cirrhosis (Group IV) in one. The duration of obesity, but not its degree, was considered to be related to the extent of fibrosis. Accordingly, we concluded that the fatty liver of simple obesity in children may progress to liver cirrhosis and that childhood obesity should be treated as early as possible.
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We determined the activities of tyrosine aminotransferase (TAT, EC 2.6.1.5), p-hydroxyphenylpyruvate oxidase (p- HPPA oxidase, EC 1.14.2.2) and fumarylacetoacetate fumarylhydrolase ( FAH , EC 3.7.12) in cytosol of the liver and kidney tissues obtained at autopsy from a case of hereditary tyrosinemia type I. Values were compared with those from a control group of autopsied tissues from three adults and six children, who had died of other causes. In tyrosinemia, these three hepatic enzyme activities were all decreased: TAT showed approximately 35%, p- HPPA oxidase 11%, and FAH 60% of the corresponding control values. On the other hand, kidney enzymes in tyrosinemia revealed that FAH was most significantly decreased to approximately 14% of the control activity. Km values for substrate--determined for p- HPPA oxidase and FAH --were not different between the patient and controls, suggesting no altered properties of these enzymes. We conclude that in the present case of hereditary tyrosinemia type I, the activities of p- HPPA oxidase in liver and FAH in kidney were most strikingly affected. This fact may in part explain the deteriorated metabolism of tyrosine observed in this patient.
Cerebral hemodynamics in 31 patients with suspected normal-pressure hydrocephalus were studied by means of the xenon-133 (133Xe) inhalation method and on dynamic computerized tomography (CT) scanning. Cerebral blood flow (CBF) is reduced in all patients with dementia. Hypoperfusion was noted in a frontal distribution in these patients compared with normal individuals. There was no difference in CBF patterns between patients with good and those with poor outcome. The CBF was increased following cerebrospinal fluid (CSF) shunting in patients who responded to that procedure: increase in flow correlated with clinical improvement, frontal and temporal lobe CBF was most markedly increased, and the CBF pattern became normal. In contrast, CBF was decreased after shunt placement in patients who were considered to have suffered from degenerative dementia, as evidenced by non-response to shunting. Dynamic computerized tomography studies demonstrated that patients with a good outcome showed a postoperative reduction in mean transit time of contrast material, most prominent in the frontal and temporal gray matter, and slight in the deep frontal structures, but not in the major cerebral vessels. Patients with poor outcome after shunting, however, had an increase in transit time in all regions. This corresponded well with the results as determined by the 133Xe inhalation method.
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Cytofluorometric measurement of nuclear DNA was performed on individual tumor cells isolated from paraffin sections of Wilms' tumors. The DNA distribution of one untreated primary tumor showed the first major peak near the diploid range and the second peak in the tetraploid range. There were many cells having amounts of DNA interspersed between the diploid and tetraploid range. Polyploid cells were not observed. Most of the Wilms' tumor cells had a higher diploid DNA value than the small lymphocytes of the control cells. The primary tumor and its metastases showed similar DNA distribution patterns. After treatment, the distribution pattern showed a reduction in number of cells between the diploid and tetraploid range and in the tetraploid range, with the greater number of cells being found in the diploid range. Though the phases of the cell cycle are not always clearly detectable by cytofluorometry, the cells of the untreated Wilms' tumor were distributed into the phases of the cell cycle as follows: 65.9% in G0 and G1 phases; 31.2% in S-phase; and 2.9% in G2 and M phases.
The parasitic form of Fonsecaea pedrosoi in the superficial hyperkeratotic layer of the skin, in a patient with chromoblastomycosis, was observed by a scanning electron microscope using some technical improvements. The fungus elements were comprised of branched septate hyphae with spherical cells and sclerotic cells. It was observed that the sclerotic cells, divided into two or three parts, formed a germ tube.
The retinal projections of hagfish were investigated by anterograde transport of HRP and the Nauta-Gygax method. The pathway coincided with the commissura postoptica of Jansen after complete crossing within the hypothalamus. Many projections were found in the contralateral 'area pretectalis', but there were only a few projections in the tectum mesencephali, the pars ventralis thalami, and the n. tuberculi posterioris of Jansen.
Ketoconazole is an imidazole derivative recently developed as an antifungal agent. There have been only a few established cases of hepatotoxicity in the literature. This report describes a case of presumed ketoconazole hepatotoxicity characterized by the development of severe hepatitis with marked centrilobular necrosis. The lack of hypersensitivity reactions in clinical findings and centrilobular location of necrosis suggested a host idiosyncrasy with metabolic abnormality as the effect of ketoconazole in the present case.
Two hundred patients with pancreatitis were studied in respect to incidence and severity of 26 items of symptoms, signs and laboratory data. Factor and cluster analyses were performed on correlation coefficients between the items and both gave similar results which allowed classification of the items into three groups: the 1st group consisting of symptoms and objective signs, the 2nd group consisting of laboratory test items related to liver function and the 3rd group consisting of test data concerning acute inflammation of the pancreas. The 1st, followed by the 3rd item-group, had a high correlation with the overall severity judgement made by individual physicians and with that by the central committee concerning a CDP-choline trial. Impairment in the 2nd item-group was particularly apparent in patients with biliary-associated pancreatitis. Subsequent scalogram analysis was carried out to investigate the relationship between the incidence of the items and overall severity. Finally, operational criteria for the assessment of overall severity were proposed.
Metastasis to the brain or spinal cord parenchyma is extremely rare in cases of neuroblastoma. We present a 3-year-7-month-old boy with neuroblastoma, stage IV, with intraspinal metastasis. He had no neurologic manifestation except incontinentia urinae and ataxia at the terminal stage. His cranial computed tomography scan showed high density areas in both cerebellar hemispheres which seemed to be distant metastatic masses. At autopsy, the metastases in the cerebellum were found to be due to dural infiltration but in the spinal cord parenchyma of the lumbar spine metastases were detected macroscopically. There were multiple distant metastatic areas near the roots, anterior and posterior. The neuroblastoma seemed to have spread along the roots by direct invasion from the meninges. In the future, the number of patients with metastasis into the brain or spinal cord parenchyma will increase because patients with progressive disease could live for a long time as a result of intensive chemotherapy. Observation of these cases will be helpful to clarify the routes of metastasis to these areas.
The authors investigated the hydrodynamics in normal pressure hydrocephalus (NPH) and suggested surgical indication for identifying cases suitable for shunt operation. 48 patients with presumed NPH who underwent CT scanning, CT cisternography, and continuous monitoring of intracranial pressure for 24 hours were studied for assessing the correlation of incidence of B wave with clinicopathological features of the normal pressure hydrocephalus syndromes. The causes of NPH consisted of idiopathic of primary origin in 24 patients, subarachnoid hemorrhage in 9, head injury in 8, cerebrovascular occlusion in 3, meningitis in 2, intracerebral hematoma in one and craniotomy in one. The incidence of B waves in term of percentage of time with B waves did not correlate with the age of the patients and presence or absence of CT evidence of brain atrophy. There was a good correlation between incidence of B waves and the degree of ventriculomegaly, the presence of periventricular lucency on CT, and the grade of CSF circulation disturbance as evaluated by CT cisternography. The pathogenesis of B waves may be related to increased malabsorption of CSF in the major pathways and episodic pressure response promoting CSF absorption in the lesser pathways. Those patients who exhibit the type IV or type V on CT cisternography and B waves for more than 20% of the time monitored on continuous monitoring of intracranial pressure (ICP) responded to shunting in more than 90%. Patients showing type III-b on CT cisternography and B waves for more than 5% on ICP monitoring benefited from a shunt in about 70%. On the other hand, patients with type III-a on CTC and B waves for less than 5% of the time monitored could not be expected to respond to shunting. Incidence of B waves on continuous ICP monitoring correlated closely with response to CSF shunting. Therefore continuous ICP monitoring, combined with CT cisternography, provide a reliable indication of the potential of a patient with NPH to recover after shunting.
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Trigeminal neurons were labeled by inserting HRP into holes cut in the pit receptor membranes of a crotaline snake, Agkistrodon blomhoffi brevicaudus. Neurons were labeled in the ophthalmic ganglion and the maxillary division of the maxillo-mandibular ganglion, and the HRP was further transported across the ganglia and through the lateral descending trigeminal tract (dlv) to label axon terminals exclusively in the dlv nucleus (DLV). In 6 successful preparations, 7.1-19.3% of totals of 5568-5986 cells in the maxillary division of the ganglion were labeled, but none at all were labeled in the mandibular division. Only a few or none at all were labeled in the ophthalmic ganglion. Cells in the two ganglia ranged in size from 10 to 55 micrometers, but large cells (greater than or equal to 40 micrometers) were scarce (4.9% of the total population). All HRP-labeled neurons fell in the median range of 20-39 micrometers. We concluded that these ganglion cells were infrared neurons, and were therefore the origin of the A delta fibers in the pit membrane. There were no HRP-labeled neurons above or below this range, in spite of the fact that smaller cells (less than or equal to 19 micrometers) made up 35.8% of the total population. In normal Nissl preparations we found both light- and dark-staining cells, but the size range of neither corresponded to the size range of infrared neurons.