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Biomedical subjects

E Ohtaki

Publications and source records attributed to E Ohtaki.

At least 37 records · Page 2Linked to original sources
PubMed1993

Turner syndrome and occlusion of the internal carotid artery.

A 2-year-old girl with Turner syndrome was admitted with left hemiplegia and left facial palsy. Serial cranial computed tomographic scan demonstrated multiple cerebral infarctions in the right putamen and right medial cortical areas. Single photon emission computed tomographic scan revealed hypoperfusion from the right frontal to the right temporal area. Right carotid angiography showed narrowing and occlusion of the right internal carotid artery at the sphenoidal portion. Collateral circulation was not detected between the external and internal carotid arteries. Left carotid angiography revealed that the left anterior artery was narrow, and that the left internal carotid artery provided blood to the right internal carotid artery through the anterior communicating artery. These findings suggested that the cerebrovascular abnormality might be due to congenital hypoplasia of arteries in this patient. The unusual combination of cerebral infarction and Turner syndrome was reported.

Arterial Occlusive Diseases↗
PubMed1992

The Rett syndrome and CSF lactic acid patterns.

We investigated both blood and cerebrospinal fluid (CSF) lactate and pyruvate levels in seven girls with the Rett syndrome (RS) and evaluated the relationship between CSF lactate and pyruvate levels and the clinical manifestations, particularly seizures, anticonvulsant medication, and breathing dysfunction including breath holding, apnea and hyperventilation. Elevated lactate and pyruvate levels in CSF with normal serum lactate were found in two RS patients. Elevated CSF lactate correlated significantly with the clinical occurrence of hyperventilation (P0 = 0.048, Fisher exact probability). We measured native and dichloroacetate (DCA)-activated pyruvate dehydrogenase (PDH) complex activities in two patients (#1 and 2) using cultured lymphoblastoid cell lines which were transformed by EB virus and the results were normal. We also analyzed CSF citric acid intermediates from 7 RS patients including citric acid, cis-aconitate, alpha-ketoglutarate, succinate, fumarate, malate and oxaloacetate. These concentrations were not significantly different from those control patients (N = 21). An elevated lactate level may be a clue to clarify the etiology of RS.

Acid-Base Equilibrium↗
PubMed1990

Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study.

Seven muscle biopsies from patients with the clinical characteristics of Marinesco-Sjögren syndrome (MSS) revealed myopathic changes of two types; muscle fiber necrosis followed by regeneration and focal myofibrillar degeneration inducing autophagocytosis with rimmed vacuole formation. In two young patients, massive muscle fiber necrosis with phagocytic invasion was the predominant feature and autophagic phenomenon was minimal, resembling the findings in progressive muscular dystrophy. Myofibrillar degeneration with autophagic phenomenon was prominent in five adult patients. The coexistence of these two degenerative processes and the secondarily induced reactive changes of muscle fiber hypertrophy, interstitial fibrosis, occasional ragged-red fibers and type 1 fiber predominance, are responsible for the wide spectrum of muscle pathology in MSS. The dense double-membrane structure surrounding myonuclei, previously reported as being specific to MSS, was present in only one biopsy.

Adult↗
PubMed1990

Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy).

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.

Abnormalities, Multiple↗
PubMed1990

Secondarily reduced cytochrome c oxidase activity in various neuromuscular disorders.

Decreased cytochrome c oxidase (CCO) activity was found in various neuromuscular diseases, including infantile spinal muscular atrophy (SMA) and Fukuyama type congenital muscular dystrophy (FCMD), that was thought to result from a secondarily induced mitochondrial defect. To determine whether or not the enzyme activities in the mitochondrial electron transport system can be secondarily changed, we measured the enzyme activities in denervated rat muscles. The CCO activity decreased progressively to 38-47% of the control value in 3 weeks after denervation, the NADH-cytochrome c reductase and succinate-cytochrome c reductase activities remaining unchanged, suggesting that the CCO activity may be easily reduced secondarily in various disease conditions.

Adolescent↗
PubMed1989

Focal cytochrome c oxidase deficiency in various neuromuscular diseases.

To determine whether focal cytochrome c oxidase (CCO) deficiency characterized by scattered fibers with absent CCO activity among normal fibers was a specific finding for mitochondrial myopathies, we studied 389 muscle biopsies from various neuromuscular diseases other than mitochondrial myopathies. Focal CCO deficiency was found in 14 biopsies: 5 of 26 patients with myotonic dystrophy, 3 of 19 with nemaline myopathy, 1 of 7 with distal myopathy with rimmed vacuole formation, 3 of 22 with limb-girdle muscular dystrophy, 1 of 9 with amyotrophic lateral sclerosis, one of 79 with Duchenne muscular dystrophy. Focal CCO deficiency is known to be a crucial finding for chronic progressive external ophthalmoplegia, but it can also be seen in a variety of other neuromuscular disorders, probably as a secondarily induced phenomenon.

Biopsy↗
PubMed1989

Tissue specificity in cytochrome c oxidase deficient myopathy.

Biopsied muscles were treated in 2 ways to demonstrate cytochrome c oxidase (CCO) activity on electron microscopy: (1) one to several muscle fibers were teased off the biopsy in buffer solution after glutaraldehyde fixation, (2) 20-30-microns thick cryostat sections were placed on precooled glass slides and fixed in glutaraldehyde solution at room temperature. After rinsing in buffer, the teased fibers and cryostat sections were stained with cytochrome c oxidase. In both procedures, almost all mitochondria in control muscle fibers stained positively. In CCO deficiency, the enzyme activity differed from tissue to tissue indicating marked tissue specificity. In the fatal infantile form enzyme activity in muscle fibers was absent, but present in fibroblasts, endothelial cells and smooth muscle arterial cells. The enzyme activity in other forms differed from cell to cell, but individual mitochondria in a given cell examined in cross-section showed uniform CCO activity, indicating that there was no intracellular mosaicism of enzyme positive and negative mitochondria.

Adolescent↗
PubMed1987

The differential diagnosis of Reye syndrome: muscle biopsy evaluation.

To evaluate the usefulness of muscle biopsy to obtain a diagnosis of Reye syndrome (RS), muscle biopsies were performed in 10 patients, with definite RS (1 patient) and mimicking RS (9 patients) (Table 1). The muscle biopsy results were compared with those of liver biopsies in 7 patients including one patient with definite RS and 6 with mimicking RS. In 3 clinical RS patients, only a muscle biopsy was performed. In the patient with definite RS, oil red O positive lipid droplets were mildly increased in type 1 fibers, with no morphological abnormality of muscle mitochondria, whereas the liver biopsy specimen showed both centrinuclear fatty metamorphosis and mitochondrial abnormality, i.e., a typical RS pathology. Marked lipid accumulation in type 1 fibers and morphological abnormality of muscle mitochondria were observed in two patients with systemic carnitine deficiency and one of two patients with fulminant hepatitis without jaundice who showed mimicking RS clinically. Therefore, it is difficult to make a diagnosis of RS simply on the basis of the clinical findings and muscle morphology.

Biopsy↗
PubMed1985

Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy.

Two Japanese siblings had lipid storage myopathy with hypertrophic cardiomyopathy (HCM). They had slowly progressive muscle weakness and ventricular hypertrophy of the heart evidenced by electrocardiography and echocardiography. Their developmental milestones were normal until three years of age when mild weakness in the lower limbs became evident. Laboratory examination showed transient high creatine kinase levels (CK) and hyperammonemia. Histochemical investigation on the muscles revealed abnormal accumulation of sudanophilic lipid droplets predominantly in type 1 fibers, type 2 A fiber atrophy and type 2 B fiber deficiency. In case 1, excessive lipid droplets were also observed in the biopsied cardiac muscle. Carnitine was decreased in the skeletal muscles and the serum. Treatment with DL-carnitine to both cases resulted in marked clinical improvement and decreased lipid droplets in the muscles.

Cardiomyopathies↗
PubMed1984

The causative mechanisms of mitral valve prolapse in progressive muscular dystrophy in reference to thorax and thoracic spine deformities and left ventricular dysfunction.

The causative mechanisms of mitral valve prolapse (MVP) were evaluated in 58 patients with progressive muscular dystrophy (PMD). Two possible causes, 1) left ventricular (LV) dysfunction and 2) thoracic spine and thorax deformities were assessed. Patients were classified into three groups by echocardiographic findings. Group 1: 31 patients without MVP, group 2: 11 patients with MVP confirmed only by M-mode echocardiogram, group 3: 16 patients with MVP confirmed by both two-dimensional and M-mode echocardiograms. LV functions evaluated by systolic time intervals and fractional shortening showed no significant differences among the three groups. Scoliosis of the thoracic spine was not related to the incidence of MVP. Lordotic or straight spines were found in 32.3%, 100%, 93.8% of cases in group 1, group 2 and group 3, respectively, and the incidences of MVP in cases with kyphosis, straight spine and lordosis were 4.8%, 66.7% and 77.8%, respectively. The shape of the thorax as evaluated by the ratio of anteroposterior internal diameter to transverse diameter was more flattened in groups 2 and 3 than in group 1. From these results, we concluded that LV dysfunction was not related to the incidence of MVP and that the lordotic or straight spine and the flattened thorax were supposed to be the major factors in the occurrence of MVP in PMD.

Adolescent↗
PubMed1983

Usefulness of two-dimensional echocardiography for diagnosis of the sites of origin in myxoma.

Three patients with atrial myxoma, two in the left atrium and one in the right were studied using two-dimensional echocardiography. An analysis by four cross sections, long and short axis, subcostal and four chamber views of the left ventricle showed that the stalk of one left atrial myxoma adhered to the anterior commissure, the other to the left atrial wall underlying on the aortic posterior wall, and that of right myxoma to the free wall of the right atrium. The myxomas were successfully removed by surgical intervention in all cases, where the sites of stalk were verified to be identical with those diagnosed by echocardiography.

Adult↗
PubMed1983

[Mitral valve prolapse in the heart with pressure overload of the right ventricle].

The prevalence of mitral valve prolapse (MVP) was examined in 16 patients with right ventricular pressure overload with a peak systolic pressure ranged from 60 to 204 mmHg (Group 1; 9 cases of primary pulmonary hypertension and 7 cases of pulmonary valve stenosis), and the clinical and echocardiographic data were compared to those of 12 patients with idiopathic MVP (Group 2) and 10 healthy persons (Group 3). MVP was defined when either or both of the mitral valve leaflets protruded into the left atrium beyond the plane of the mitral ring, and "gap" was defined as positive when one of the leaflets of the mitral valve slipped 3 mm or more without prolapse toward the left atrium than the other leaflet. Eccentricity of the left ventricle was obtained from the cross-sectional view of the left ventricle at the mid-ventricular level: the ratio of the internal diameter (S) passing through the mid-point of the interventricular septum (IVS) and perpendicular to the IVS divided by the longest internal diameter (L) parallel to the IVS, at end-diastole (S/L(d] and at end-systole (S/L(s], respectively. The following results were obtained. MVP was found in seven cases of 16 patients (43.8%) of Group 1. Two cases had positive "gap" (12.5%). Eccentricity of the left ventricle in Group 1 (S/L(d) 0.81 +/- 0.12, S/L(s) 0.78 +/- 0.15) was more marked than that of Group 2 (S/L(d) 0.98 +/- 0.09, S/L(s) 1.02 +/- 0.06) or of Group 3 (S/L(d) 1.03 +/- 0.08, S/L(s) 1.00 +/- 0.04) (p less than 0.001 in each).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1979

[Problems concerning bone union influenced by heat generated in osteotomy (author's transl)].

The author experimentally investigated in rabbits how the heat generated by bone saws affected bone union in osteotomy. Radiographic and soft X-ray findings revealed that recovery of the lesion in every bone shaft after osteotomy was marked in all. However, the time required to obtain complete recovery of the lesion differed depending on the instruments used. That is to say, it required 3 weeks after surgery by means of Gigli's saw, 4 weeks by means of Stryker bone saw and lower speed bur (2,000 rpm) and 6 weeks by means of higher speed bur (18,000 rpm). Recovery of lesion by bone cut with each bone saw on the unscalded side was one or two weeks earlier than that in the scalded side. This was also proved on histopathological findings. With regard to the disappearance of osteocytes in the bone cortex at the cut surfaces of bones, micrometric findings revealed that there was a great difference between the scalded and the unscalded side in every group except in the group where a Gigli's saw was used. However, almost no difference was observed on the unscalded side among every bone saw. According to scanning electron microscopic findings at every surface cut with various bone saws, collagen fiber was preserved on the unscalded side where physiological saline solution was sprayed. Particularly, the collagen fiber appeared to be torn off in the case of lower speed bur (2,000 rpm), the cut surface was well uniform in the case of higher speed bur (18,000 rpm). Thus, I have learnt that we do not need to give much attention to the kind of instrument, if effort using physiological saline solution, are made to avoid the heat generated by bone saws when osteotomy is done.

Animals↗