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Biomedical subjects

N Sunohara

Publications and source records attributed to N Sunohara.

At least 73 records · Page 4Linked to original sources
PubMed1990

[Cardiomyopathy in Becker muscular dystrophy].

In 6 patients with dystrophin-verified Becker muscular dystrophy (BMD), 3 patients had dilated cardiomyopathy (DCM group). The other 3 patients (non-DCM group) also had ECG abnormalities including incomplete right bundle branch block, left ventricular enlargement and intraventricular conduction defect. Between DCM and non-DCM group, there was no prominent difference in ages at onset, mean duration and severity of muscular weakness. Serum CK levels, and molecular weight and amount of dystrophin also showed no significant difference between two groups. On reviewing 14 BMD patients, including 3 present patients with cardiomyopathy, the cardiac symptoms appeared from 4 to 41 years, averaging 17.1 years of age. The mean duration of muscle symptoms was 9 years, ranging from 0 to 33 years. There was no correlation between severity of muscle weakness and cardiomyopathy. Six patients died of heart failure and 3 received cardiac transplantation. Thus there was no characteristic clinical feature in BMD patients with cardiomyopathy except for very poor prognosis. Since the myocardial involvement is not related with clinical severity and duration of the disease, careful observation for cardiac function should be carried out in all BMD patients even in the early stage of muscle weakness.

Adolescent↗
PubMed1989

Neurotoxicity of human eosinophils towards peripheral nerves.

The toxicity of eosinophils towards peripheral nerves was examined using cultures of posterior ganglion cells from chick embryos. Eosinophils were also derived from a patient with significant "hyper-eosinophilia", peripheral neuropathy, bronchial asthma, myocardial damage and skin involvement. A sural nerve biopsy showed a severe to almost complete loss of myelinated fibers without pathological changes suggesting necrotizing vasculitis. Surviving neurons in a culture containing the patient's eosinophils or serum were markedly decreased in number as compared with those in normal subjects. These results support the possibility that the peripheral neuropathy in the patient caused by toxic agents derived from eosinophils.

Adult↗
PubMed1989

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.

Immunoblot characterization and immunofluorescence localization of dystrophin are presented for 76 human patients with various neuromuscular diseases. Normal dystrophin (shown by immunoblotting) was invariably visualized as a continuous, peripheral membrane immunostaining of myofibers. Biochemical abnormalities of dystrophin (either lower or higher molecular weight dystrophin) resulted in patchy, discontinuous immunostaining, suggesting that the abnormal dystrophin proteins are not capable of creating a complete membrane cytoskeleton network. There was a very strong correlation of clinical diagnoses with the type of dystrophin abnormality; all Duchenne muscular dystrophy patient muscle contained no detectable dystrophin, Becker muscular dystrophy patient muscle had clearly abnormal dystrophin, and unrelated diseases showed normal dystrophin. However, a single patient of five carrying the diagnosis of Fukuyama dystrophy showed no detectable dystrophin and thus appeared to be a Duchenne dystrophy patient by the biochemical assays. We know of no other case of a patient with a disease thought to be unrelated to Duchenne/Becker dystrophy yet demonstrating dystrophin deficiency. Based on the data presented, we conclude that immunofluorescence is the best technique for the detection of female carriers of Duchenne dystrophy, whereas immunoblotting appears superior for the prognostic diagnosis of Becker muscular dystrophy.

Amino Acid Sequence↗
PubMed1989

Distal myopathy with rimmed vacuole formation. A follow-up study.

A long-term follow-up study of patients with familial distal myopathy with rimmed vacuole formation and a review of the literature indicates that the prognosis of the disorder was extremely poor as to daily life. Although the initial symptom appearing in early adulthood was muscular wasting and weakness in the legs, especially the distal muscles, severe generalized skeletal muscle involvement with sparing of the facial, extraocular, bulbar, intercostal and diaphragm muscles was recognized in the advanced stage. The disease is probably inherited as an autosomal recessive trait, while there is a considerable female preponderance, the female-to-male ratio being 2:1. The disorder is distinguishable from various types of distal myopathy on the basis of clinical and pathological findings, and other myopathies with rimmed vacuole formation, including inclusion body myositis, from a prognostic viewpoint.

Adult↗
PubMed1989

[Two cases of mitochondrial myopathy (focal cytochrome c oxidase deficiency), long-term follow-up on a diagnosis of ocular type myasthenia gravis].

Two patients (a 50-year-old and a 35-year-old men) with focal cytochrome c oxidase deficiency, manifesting ptosis and external ophthalmoplegia of 13 and 6 years' duration, respectively, were reported. Patient 1 (a 50-year-old male) had also slight muscular weakness of the proximal limb and neck flexor muscles. Diagnosis of myasthenia gravis had been made on the clinical findings including ptosis and external ophthalmoplegia, diurnal fluctuation of symptoms, and equivocal positive Tensilon test. However, waning phenomenon on repetitive nerve stimulation or elevation of titer of the anti-acetylcholine receptor antibody was not detected on both patients. Needle EMG showed mild myopathic changes. Finally, pathological and biochemical analyses of the biopsied muscles confirmed the diagnosis of mitochondrial myopathy (focal cytochrome c oxidase deficiency).

Adult↗
PubMed1989

[A case of symptomatic adrenoleukodystrophy heterozygote manifested by spastic paraparesis of late onset].

A case of symptomatic adrenoleukodystrophy (ALD) heterozygote, manifested by spastic paraparesis, was reported. The patient's 9 year-old grandson had ALD, and her 34 year-old daughter, who was the mother of the case of ALD, was asymptomatic but accompanied by elevation of serum very long chain fatty acid (VLCFA). The patient's gait disturbance appeared at age 62 and that gradually worsened. On admission, she showed spasticity on the lower limbs with bilateral Babinski's reflexes, muscle weakness of the lower limbs and interossei muscles of the hand, and mild sensory disturbance on the distal part of all limbs. Serum VLCFA was markedly elevated. There was no abnormal adrenal function. Sensory and motor nerve conduction velocities were within normal limits. A needle EMG examination disclosed long-duration and high-amplitude potentials. Auditory brainstem response (ABR) revealed elongation of III-V wave intervals bilaterally, and somatosensory evoked potential (SEP) showed delayed N20. Brain CT scan revealed no abnormality but MRI (T2 weighted image) showed mild high intensity areas in the capsula interna and cerebral peduncles. The abnormality of MRI suspected that spastic paraparesis may result from involvement of the corticospinal tract of the cerebrum or brainstem though the symptom has been considered due to the lesion of the spinal cord. Examinations of ABR, SEP and MRI were useful methods to make a diagnosis of symptomatic ALD heterozygote.

Adrenoleukodystrophy↗
PubMed1989

[A case of progressive myopathy with tubular aggregates].

Tubular aggregates (TA) are unusual intramuscular structures stained basophilic on hematoxilin and eosin (HE) staining and red on modified Gomori trichrome (GT) staining. The structures are said to be originated from sarcoplasmic reticulum and are collections of tubules with double membranes on electron microscopic studies. The TA are usually seen in biopsy muscles from patients with muscle pain and cramps but without muscle weakness, periodic paralysis or alcoholic myopathy. In addition, there are five reports on families with progressive myopathy and tubular aggregates in the literature. We presented here a 48-year-old postman without any family history, who had had progressive muscle weakness for 17 years. He had never noticed pain or cramps in his muscles, not taken any particular medicine, and not had regular alcoholic beverages. There was no ptosis, facial weakness, masticatory muscle weakness or dysphagia. Muscle wasting, started from the proximal part of four extremities had progressed to the distal part of them. He could not walk on heels or toes and walked with waddling gait. He stood up with Gowers' maneuver. Serum GOT, GPT and CK were elevated. EMG showed myogenic pattern and MCV was normal. The muscle biopsies were performed; the first one taken from quadriceps femoris muscle at 42 years old showed myopathic changes including marked variation in fiber sizes, with scattered necrotic fiber splitting and TA in type 2B fibers. The second biopsy from biceps brachii muscle at the age of 48 years, showed densely proliferated fibrous tissues, marked variation fiber sizes and scattered split fibers. The TA were rarely seen and type 2B fibers were decreased in number.(ABSTRACT TRUNCATED AT 250 WORDS)

Biopsy↗
PubMed1989

[Positron emission tomography in two cases of transient global amnesia].

We encountered two cases of typical transient global amnesia (a 53-year-old woman and a 50-year-old man). Both cases showed no evidence of abnormal findings which caused the attack on examinations of CSF, EEG, brain CT, brain MRI and cerebral angiography. Examinations of positron emission tomography, using 15O labeled CO2 and O2, were performed on 14 and 8 days after the attack in the female and male cases, respectively, and those disclosed decreased regional blood flow (CBF), increased oxygen extraction ratio (OER), and decreased oxygen metabolic ratio (CMRO2) in the bilateral medial temporal and occipital lobes, which were supplied by the bilateral posterior cerebral arteries. PET, performed on about one month after the attack, revealed normalized values of CBF, OER, CMRO2 in both cases. These findings strongly suggested that transient global amnesia in our cases may be related to ischemia of the bilateral posterior cerebral arteries.

Amnesia↗
PubMed1988

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies.

Four patients with mitochondrial abnormality had multiple muscle biopsies at several year intervals during which respiratory chain enzyme activities were shown to be quite variable. In three patients, progression of the disease paralleled the decrease in respiratory chain enzyme activity. In one patient, the clinical and pathological findings improved with age as is seen in the benign infantile form of cytochrome c oxidase (CCO) deficiency. The variability in these mitochondrial disorders may result from the varied proportions of normal and abnormal mitochondria in the muscle cells in which the mitochondria are said to be randomly replicated from numerous mitochondrial DNA copies.

Adolescent↗
PubMed1986

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C.

We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X-linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X-linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteinizing hormone-releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.

Adolescent↗
PubMed1986

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case.

A case of a unique combination of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like syndrome (MELAS) with acanthocytosis is reported. Neuropathological examination revealed pellagra-like change in Betz cells, brain-stem neurons and anterior horn cells as well as findings compatible with mitochondrial encephalomyopathies. Abnormal function of nicotinic acid-related enzymes could be the cause of the complicated clinicopathologic findings in this case. This is the first report of MELAS with acanthocytosis.

Acanthocytes↗
PubMed1985

Idiopathic dystonia-parkinsonism with marked diurnal fluctuation of symptoms.

Studies were performed on 5 patients with idiopathic dystonia-parkinsonism, each of whom had minor dystonic movements and parkinsonian symptoms with marked diurnal fluctuation. Levels of homovanillic acid and 5-hydroxyindoleacetic acid were not different from those in controls. Considerable improvement in dystonic movements and parkinsonian symptoms was obtained with a small dose of L-dopa, trihexyphenidyl hydrochloride, amantadine, or bromocriptine hydrochloride. Electrophysiological investigation confirmed that the dystonic movements, which became remarkably worsened on attempted movement, contributed importantly to the diurnal fluctuation of symptoms.

Adult↗
PubMed1985

Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation.

To clarify the clinical and morphological characteristics of distal muscular dystrophy, clinical and pathological material from 4 affected persons was compared with similar studies in 4 patients with distal myopathy with rimmed vacuole formation. Although these two forms of autosomal recessive distal myopathy with onset in young adulthood were highly similar in their clinical symptoms, histochemical and electron microscopic findings of muscles subjected to biopsy were quite different. The muscle abnormalities in distal muscular dystrophy were almost the same as those in Duchenne muscular dystrophy, showing massive fiber necrosis followed by active fiber regeneration. In contrast, distal myopathy with rimmed vacuole formation showed a progressive muscle fiber atrophy and loss, rimmed vacuoles in the sarcoplasm, and no apparent fiber necrosis or regeneration.

Adolescent↗
PubMed1985

Glabella tap sign. Is it due to a lack of R2-habituation?

In 30 patients with Parkinson's disease, 55 patients with other neurological disorders and 25 normal subjects, both upper eyelid movements and orbicularis oculi reflexes to repetitive glabella taps were simultaneously recorded using a newly devised apparatus for the measurement of eyelid movement. Upper lid movement during the blink reflex has been thought to correspond to the late component of the two components of the orbicularis oculi reflex, and failure of habituation of the late component to repetitive stimuli has been considered to be responsible for the glabella tap sign. However, the present study showed that the eyelid lowered after the early component (R1), and habituation of the late component (R2) was recognized in 31% of subjects with the glabella tap sign. This shows that there is no direct causal relationship between the glabella tap sign and lack of the habituation of the late component.

Adolescent↗
PubMed1984

Neoplastic angioendotheliosis of the central nervous system.

A case of neoplastic angioendotheliosis demonstrating unusual manifestations is reported. A 56-year-old male showed recurrent attacks of neurological symptoms including paraplegia, brain-stem symptoms, tonic seizures, aphasia, apraxia and cortical blindness over 2 years. The EEG disclosed transient, periodic, lateralized, epileptiform discharges. Brain CT scan revealed low-density areas mainly in the white matter. Other laboratory examinations were negative except for CSF protein fractions. Post-mortem examination disclosed remarkable intravascular proliferation of atypical cells in the CNS with prominent proliferation of blood vessels and softening. Other organs were not affected, which suggested that the atypical cells had a high affinity to CNS blood vessels.

Brain↗