Biomedical subjects
Publications and source records attributed to M Maehara.
A 10-year-old girl was reported who showed horizontal nystagmus in association with typical absence and 3-cycles/s generalized, bisynchronous spike-and-wave discharges. In view of the general concept that epileptic nystagmus is a manifestation of partial seizures, the occurrence of such an association deserves documentation.
In two sibling patients with lysinuric protein intolerance (LPI), the therapeutic effect of oral supplement of arginine and citrulline on postprandial hyperammonemia was investigated. Intravenous load of L-alanine (6.6 mmol/kg of body weight), and oral load of L-arginine (0.8 mmol/kg of body weight) or of L-citrulline (1.0 mmol/kg of body weight) during intravenous load of L-alanine were performed to study the preventive effect of arginine or citrulline supplement on hyperammonemia induced by intravenous amino nitrogen load. In the older sibling, the hyperammonemia induced by the intravenous amino nitrogen load was completely prevented by the oral supplement of citrulline, but not completely prevented in the younger sibling. On the other hand, the hyperammonemia was prevented by the oral supplement of arginine only in the younger sibling, but not in the older sibling. In the light of these results, the younger patient received an oral administration of L-arginine and the older patient L-citrulline for the treatment of postprandial hyperammonemia. Two-year observation of each patient revealed that postprandial hyperammonemia and aversion to protein-rich food completely disappeared and that a marked increase of body weight and height was obtained. Furthermore, there was no side effect with these amino acids supplements. The present study suggests that an oral supplement of arginine or citrulline is effective for preventing postprandial hyperammonemia in this disorder.
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Serial changes of cranial CT findings were studied in three siblings with Wilson disease during the course of D-penicillamine therapy. The older two cases with neurological presentation revealed low density areas in the region of the basal ganglia on the CT scans performed before treatment. Mild cortical atrophy and mild enlargement of the lateral and the third ventricles were also observed. The chelating therapy resulted in a considerable improvement of neurological symptoms and disappearance of Kayser-Fleischer rings. The low density areas of the basal ganglia disappeared. However, cortical atrophy and an enlargement of the ventricles were still present. In an asymptomatic girl, the cranial CT scans remained normal after chelating therapy. The cranial CT scan is considered to be of great use both in diagnosis and observation of the clinical course in Wilson disease, and it is also of prognostic value.
In a 4-year-old male with Menkes kinky hair disease (MKHD) treated with copper supplement therapy, reduced cytochrome a + a3 contents in liver was demonstrated to be 0.029 against 0.128 nmol/mg protein in the control. Cytochrome c oxidase activities in brain, liver, skeletal muscle, and heart were 47, 22, 54 and 59% of the control, respectively. The copper contents in brain and liver were decreased. In spite of increased serum levels of copper and ceruloplasmin, the decreased cytochrome c oxidase activities in various organs were not corrected by copper supplement therapy. A search for a therapeutic method which can normalize copper enzymes in brain and liver, would seem to be a prerequisite for the treatment of MKHD.
In a patient with hyperargininemia, oral administration of sodium benzoate or phenylacetic acid together with an essential amino acid mixture was used to prevent hyperammonemia and to decrease plasma and CSF concentrations of arginine. Sodium benzoate reduced the plasma ammonia levels, which was confirmed by the increase of urinary excretion of hippuric acid. Phenylacetic acid also controlled hyperammonemia, and EEG findings also improved. By these treatments, plasma and CSF concentrations of arginine showed a slight decrease, but were far above the normal range. There was no clinical improvement, and spasticity of the lower and upper extremities was progressive with mental deterioration.
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Five children who had apneic attacks as a manifestation of epileptic seizures are reported. In three children, the apneic attacks were the sole symptom of epileptic fits. The other two children had additional types of seizures. The apneic seizures usually lasted one to two minutes and were characterized by respiratory embarrassment rather than complete arrest. These seizures are usually accompanied by cyanosis which appears early during the course of the attack. Although consciousness seemed to be impaired, this was difficult to assess accurately in infants. The ictal EEGs disclosed paroxysmal discharges of focal onset in all cases, consisting of high amplitude theta-waves, gradually mixed with or replaced by sharp waves or spikes in some and fast waves followed by slower waves in others. These occurred in temporal areas in three patients and in frontal and central areas in one patient each. Interictal EEGs, however, revealed paroxysmal discharges in only one patient. Apneic attacks in these infants are considered to be an integral part of the manifestations of complex partial seizures originating mostly in the limbic system.
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UNLABELLED: In order to identify the determinants for surgical procedures in mitral stenosis, we evaluated two-dimensional echocardiographic findings of the mitral valve and subvalvular structures in 35 patients undergoing open mitral commissurotomy (OMC) or valve replacement (MVR). As indices of a degree of subvalvular shortening and valvular flexibility, the distance between the mitral ring and the tip of the anterior mitral leaflet was measured by the LV long-axis view by in both midsystole (S) and early diastole (D). As a possible major determinant for MVR, a degree of valvular calcification (C) was semi-quantatively scored according to the extent of abnormally strong echo density. In nine of 11 patients undergoing MVR, a main reason for selecting MVR was a marked thickening or shortening of subvalvular structures. In patients in whom OMC was feasible, the degree of improvement of the mitral valve area (delta MVA) was assessed by the pre- and post-operative mitral valve areas (MVA) measured on the LV short-axis view, which were averaged 0.15 and 1.38 cm2, respectively. RESULTS: The index C was significantly higher in cases with MVR than those with OMC (9.2 +/- 2.6 vs 4.7 +/- 2.3 points, p less than 0.001), although there was a significant overlap between these two groups and index C did not correlate with delta MVA in the OMC patients. Similarly, the value S was significantly smaller in patients undergoing MVR than those undergoing OMC (1.2 +/- 0.4 vs 0.7 +/- 0.2 cm, p less than 0.001), though S did not correlate with delta MVA. On the other hand, the index of valve flexibility D--S was smaller in patients undergoing MVR (0.5 +/- 0.3 vs 0.8 +/- 0.3 cm, p less than 0.05) and correlated well with delta MVA (delta MVA = 0.699 x (D--S)+0.007, R = 0.678, p less than 0.02) in patients undergoing OMC. Furthermore, in all patients undergoing OMC with D--S greater than or equal to 0.8 cm, delta MVA was above 0.5 cm2, contrasting with delta MVA of 0.5 cm2 or less in 6 of 7 patients with D--S less than 0.7 cm. Using these indices, surgical procedures were successfully predicted in another 7 prospectively studied patients and predicted delta MVA in 4 patients was quite comparable with actual delta MVA. It was concluded that measurements of S and D by two-dimensional echocardiography are useful, 1) to predict patients requiring MVR and 2) to predict patients with inadequate delta MVA in whom OMC is surgically feasible.
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Two cases of Guillain-Barré syndrome (GBS) presenting with signs of ophthalmoplegia were reported. One showed unilateral internal ophthalmoplegia without external ophthalmoplegia, and the other displayed partial external ophthalmoplegia with sluggish pupillary response to light. It is important to keep in mind the possibility of GBS with acute onset of internal and/or external ophthalmoplegias.
A case of leiomyosarcoma that appeared to have originated in the ligamentum teres hepatis of a 66-year-old female has been presented. The case was suspected of leiomyosarcoma originating in the ligamentum teres of the liver from the findings by preoperative examinations, and definitely diagnosed as such in a laparotomy and by histological examination of the resected tissue specimen.
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