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Biomedical subjects

F Ishizaki

Publications and source records attributed to F Ishizaki.

At least 19 recordsLinked to original sources

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation.

We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.

Adult↗

[A case of cholinergic urticaria with epileptic seizure and abnormalities on electroencephalogram].

We report a 10-year-old boy with cholinergic urticaria associated with epileptic seizure and abnormalities on electroencephalogram. In March 1999, many red wheals developed over the entire body during exercise and at increased body temperature. In April, systemic red wheals developed during exercise. Simultaneously, loss of consciousness was noted for 2 to 3 minutes. After the patient's body was cooled, consciousness improved, and these exanthemas disappeared. In the Department of Dermatology, his illness was diagnosed as cholinergic urticaria. Neurologically, a heat tolerance and mental strain induced cholinergic urticaria, followed by generalized epilepsy(clonic seizure). In addition, electroencephalography revealed high voltage polyspikes and 14 Hz positive spikes. The mechanism involved in cholinergic urticaria associated with epileptic seizure was assumed as follows: sweat-promoting stimuli, such as heat, exercise and tension, stimulate the autonomic center in the diencephalon or brain stem, and excitation in the autonomic center is transmitted to the efferent sympathetic nerve, causing cholinergic urticaria; when the intensity of stimulation is high, the autonomic center exhibits abnormal activities and causes epileptic seizure.

Autonomic Nervous System↗

[An aged case of bilateral ballistic movement which was thought to be exacerbated by respiratory insufficiency].

We report a 75-year-old man who had shown bilateral ballistic movements. He had suffered from pulmonary emphysema for about 35 years and was treated with oxygen therapy 3 years before. When he was 70 years old, involuntary movements appeared in bilateral limbs. His involuntary movements were ballistic, and become gradually worse. T2-weighted MRI after admission demonstrated high signal intensities in the bilateral pallidum, indicating multiple brain infarcts in the subcortical white matter. Ultrasonography showed 2 plaques in the left common carotid artery. Laboratory studies revealed blood coagulation abnormalities and hypoxia. Medication with clonazepam and tiapride together with oxygen therapy normalized blood gas levels and improved his involuntary movements. But after discharge, he stopped oxygen therapy and involuntary movement became worse again, associated with hypoxia demonstrated by his blood gas analysis. These findings suggest that not only cerebrovascular disease but hypoxia might play an important role in the appearance and exacerbation of involuntary movements.

Aged↗

Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6.

OBJECTIVE: To clarify the characteristic magnetic resonance imaging (MRI) findings in patients with spinocerebellar ataxia 6 (SCA6) diagnosed by genetic analysis. PATIENTS AND METHODS: Using MRI, we examined 10 patients genetically diagnosed as having SCA6 and 40 control subjects. RESULTS: The mean (+/-SD) CAG repeat length in 10 patients with SCA6 was 22.9 +/- 1.3. There was a significant inverse correlation between the CAG repeat size and age at onset in the SCA6 group (r = -0.86, P = .003). In patients with SCA6, the areas of the cerebellar vermis and hemispheres in sagittal MRI were significantly smaller than those in the control subjects. In transaxial MRI, the anteroposterior diameter of the pons and the diameter of the middle cerebellar peduncle were mildly decreased and the red nucleus was slightly atrophied in patients with SCA6. There was no significant difference in the diameter of the midbrain, medulla oblongata, fourth ventricle, superior cerebellar peduncles, dentate nucleus, or globus pallidus between the SCA6 and control groups. A high-signal intensity in the transverse pontine fibers was not observed in any of the patients with SCA6 on T2-weighted and/or proton-weighted axial MRI. CONCLUSIONS: The cerebellum and its afferent and efferent systems were affected in patients with SCA6. These results seem to distinguish the MRI findings of SCA6 from those of other forms of spinocerebellar ataxia.

Adult↗

QTc interval, and autonomic and somatic nerve function in diabetic neuropathy.

QTc intervals were measured using an electrocardiogram and other autonomic function tests, in 66 neuropathy patients with non-insulin-dependent diabetes mellitus (59.0 +/- 12.5 years; mean +/- SD). The change in R-R interval did not influence the QTc interval, as calculated by the equation: QTc = QT + (1000 - R-R)/7 (ms), compared with the conventional Bazett's equation which appeared to overcompensate in the case of a small R-R interval. The QTc interval in the diabetic patients was significantly longer than that in age-matched controls. The QTc interval showed an inverse correlation with the coefficient of variation of the R-R interval and skin blood flow at rest. However, no correlation was found between QTc interval and blood pressure change, change in heart rate on standing, or results of the sympathetic skin response. The QTc interval did not correlate significantly with motor or sensory nerve conduction parameters. We conclude that the QTc interval can be a simple and useful autonomic indicator for diabetic neuropathy relatively independent of other abnormalities of autonomic and somatic nervous system function.

Aged↗

An abnormal relationship between blood pressure and pulse rate in amyotrophic lateral sclerosis.

OBJECTIVES: To clarify the autonomic dysfunctions in amyotrophic lateral sclerosis (ALS) patients, we investigated the relationship between blood pressure (BP) and pulse rate (PR), QTc interval, and coefficient of variation in the R-R interval (CVR-R) in ALS patients. MATERIALS AND METHODS: BP and PR were determined automatically every 30 min for 24 h in 6 patients with ALS and in 18 healthy age-matched volunteers. The QTc interval and CVR-R were also evaluated using an electrocardiogram. RESULTS: The relationship between BP and PR was lost in the ALS group. There was no significant difference in the QTc interval or CVR-R between the ALS and control groups. CONCLUSION: We speculate that the imbalance between BP and PR observed in the ALS group reflects a disorder in the balance between the sympathetic and parasympathetic nervous systems.

Adult↗

Autonomic dysfunction in Parkinson's disease and vascular parkinsonism.

OBJECTIVES: To clarify the autonomic dysfunction in idiopathic Parkinson's disease (PD) and vascular parkinsonism (VP), we investigated the relationship between blood pressure (BP) and pulse rate (PR), the standing test, and the coefficient of variation in the R-R interval (CV[R-R]). MATERIALS AND METHODS: BP and PR were determined automatically every 30 min for 24 h in 15 PD patients, 15 VP patients and 15 healthy volunteers. The CV(R-R) values evaluated by an electrocardiogram and the standing test were also performed. RESULTS: The BP-PR relationship was lost in the patient groups. There was no significant difference in the standing test between the control and patient groups. A significantly decreased CV(R-R) was observed in the VP group. CONCLUSION: We speculate that our results may reflect an imbalance between the sympathetic and parasympathetic nervous systems in PD and VP.

Aged↗

Creutzfeldt-Jakob disease associated with autonomic nervous system dysfunction in the early stage.

A 54-year-old man presented with tremor and unusual behavior. He was admitted two months later because of dementia and myoclonus. Periodic synchronous discharges were observed on the electroencephalogram. Based on these findings, we diagnosed the case as Creutzfeldt-Jakob disease. About two weeks after admission, decubitus, bowel dysfunction and hypohidrosis occurred. We observed various autonomic nervous system dysfunctions such as abnormal pupillary response to autonomic drugs, reduced coefficient of variation of R-R interval, and abnormal diurnal blood pressure variation.

Atrophy↗

[Prolonged QTc intervals in Parkinson's disease--relation to sudden death and autonomic dysfunction].

Sudden death has been reported in Parkinson's disease (PD), but the cause of death has not been fully clarified. A prolonged QT interval on the electrocardiogram (ECG) of patients without cardiac dysfunction is an independent risk factor for sudden death regardless of etiology. QT prolongation is believed to be related to cardiac autonomic dysfunction. We suspected that QTc intervals, as well as QT intervals, might be related to the clinical characteristics of PD and to the function of the autonomic nervous system in PD and also postulated a relationship between QTc prolongation and sudden death in PD. We investigated the QTc intervals on the ECGs of 48 PD patients (20 males 28 females) aged 64.5 +/- 9.4 years and 44 controls aged 60.0 +/- 8.2 years, and excluded patients with heart disease. QTc intervals were determined by using ECG-8210, ECAPS12 (Nihon-Kohden). The autonomic nervous system was evaluated by measuring CVR-R and performing orthostatic tests. Since the autonomic nervous system is considered to play an important role in the mechanism of diurnal blood pressure variation (DBPV), we assessed DBPV in 19 PD patients by determining blood pressure automatically every 30 minutes for 24 hours with an ambulatory blood pressure monitor (90202, Space Lab). QTc intervals were significantly longer in the PD patients (412 +/- 26 msec) than in the controls (401 +/- 14 msec) (p < 0.02, t-test). QTc prolongation was significantly correlated with severity according to Hoehn and Yahr stage (r = 0.509, p < 0.001), orthostatic hypotension, and decreased CVR-R ratio but not with duration of PD or treatment. The incidence of QTc prolongation was higher in the PD patients with non-dipper type DBPV than in those with the dipper type. Two of the PD patients died suddenly. Their QTc intervals a year before their death were 451 msec and 470 msec, respectively, suggesting that cardiac dysautonomia may have been involved in the cause of their death. These findings suggest that cardiac autonomic dysfunction is related to the severity of PD, and that it may predispose such patients to cardiac disorders including sudden cardiac death.

Adult↗

[A case of multiple sclerosis associated with lateralization of bone change].

We report a 63-year-old female, case of multiple sclerosis associated with lateralization of bone change. In 1969, at age 38 she lost sight in her right eye. After that, she had several episodes of remission and exacerbation. In 1992, left hemiparesis, sensory disturbance and vesicorectal disturbance appeared, and she was admitted to our hospital. Immediately, steroid pulse-therapy was initiated then steroids were tapered. Her muscle strength recovered to some degree. The left upper limb showed low skin temperature, edema and decreased circulation. In January and September of 1993, bone examinations were conducted using multiple scanning X-ray photodensitometry. Osteopenia was observed, especially in the left hand. The bone density in the right hand changed slightly during the 8-month course of the illness, but osteopenia in the left hand became more marked. The asymmetrical bone change suggested that osteopenia results from a disorder of the central nervous system, especially through autonomic disorder.

Bone Density↗

[Relationship between impaired blood pressure control and multiple system involvement in chronic alcoholics].

Chronic ethyl alcohol (ethanol) abuse is associated with different types of neurological involvement. Impaired blood pressure control such as in hypertension and/or orthostatic hypotension is a known autonomic dysfunction in chronic alcoholics. Although abstinence appears to improve blood pressure, the precise mechanisms underlying the effects of alcohol remain unknown. We suspected that abnormal blood pressure might influence the outcome of alcohol-related neurological symptoms. We therefore reviewed the alcohol history of 28 male patients admitted to our hospital with multiple system involvement. No family history of spinocerebellar degeneration was found. All of the patients had a history of chronic alcohol abuse. The duration of alcohol abuse in 28 patients was 28.8 + 11.2 yrs. Daily ethanol consumption was less than 83 ml in 6 patients between 83 ml and 138 ml in 11 and more than 138 ml in 11. We assessed the relationship between impaired blood pressure control, clinical characteristics, and outcome after abstinence for a period ranging from 30 days to 6 years in 22 chronic alcoholics who had drunk more than 83 ml/day. All of the patients had various types of autonomic dysfunction, and a high incidence of impaired blood pressure control and decreased CVR-R were noted. The symptoms improved or even completely resolved after cessation of alcohol consumption, however, 8 of the 22 patients in our study reached a plateau and have permanent symptoms. Patients with no improvement as a result of abstinence had a long history of excessive drinking. Brain CT/MRI, SPECT and P300 studies were conducted. SPECT and P300 were performed in both the supine and standing position in 5 and 7 patients, respectively. Five patients who had severe orthostatic hypotension with syncope were found to have cerebrovascular lesions on MRI. Changes in P300 amplitude and/or distribution and latency were noted after a fall in blood pressure. Although the etiology of impaired blood pressure control in alcoholics remains unknown, we believe that abnormal blood pressure affects the outcome of alcohol-related neurological symptoms.

Adult↗

Relationship between osteopenia and clinical characteristics of Parkinson's disease.

Pathological bone changes affect locomotor activity and may influence the outcome and prognosis of Parkinson's disease (PD). In this study, we determined the relationship between bone changes and PD. Bone study was performed by multiple scanning x-ray photodensitometry (MD/MS) in 64 patients with PD and 42 age-matched controls. We then compared the results with the clinical characteristics of PD. Osteopenia was detected in 22 (53.6%) of the 41 female and 6 (26%) of the 23 male patients, and in 6 (26%) of the 23 female and 2 (10.5%) of the 19 male controls. The frequency of osteopenia was significantly greater in the female patients than in the male patients or the female controls. Osteopenia was related to the duration of PD in the men, but not in the women. Twenty of 40 PD patients' hands showed side-related differences in the analysis of both hands. In 19 of the 20 patients, the side of more severe osteopenia coincided with that of parkinsonian symptoms, suggesting that osteopenia is related to the pathophysiology of PD.

Absorptiometry, Photon↗

[Bone changes in Parkinson's disease].

Parkinson's disease (PD) is a movement disorder and tends to occur in elderly people, who sometimes develop age-related osteoporosis. Pathological bone changes seem to affect the outcome and prognosis of PD. We studied the relationship between bone changes and PD. Bone examination was conducted by multiple scanning X-ray photodensitometry in 70 patients with PD and 46 age-matched controls. We then compared the results with the clinical characteristics of PD. Of the 70 patients, 44 were women and 26 were men; the mean ages were 65.5 +/- 7.9 (mean +/- SD) and 63.4 +/- 9.9 years, respectively. Of the 46 controls, 25 were women and 21 were men, with mean ages of 61.4 +/- 10.2 and 60.3 +/- 9.3 years, respectively. Osteopenia was detected in 26 (59%) of the 44 female, and 5 (19%) of the 26 male patients, and in 6 (24%) of the 25 female and 2 (9%) of the 21 male controls. The frequency of osteopenia was significantly greater in the female patients than in the male patients or the female controls. The mean Hoehn & Yahr stage of female patients with osteopenia was more severe than that of those without osteopenia, with a significant difference between the two groups. Osteopenia in men was related to the duration of PD, but this was not so in the women. The female patients without osteopenia tended to have earlier onset of PD and longer duration of the disease and treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

[Diurnal blood pressure variation and autonomic nervous function].

We studied the relationship between diurnal blood pressure variation (DBPV) and autonomic nervous function in various diseases, such as, diabetes mellitus (DM), Parkinson's disease (PD), Shy-Drager syndrome (SDS) and cerebrovascular disease (CVD). Abnormal DBPV was found in those diseases. We speculated that dysfunction of autonomic nervous system might contribute to the abnormal DBPV in DM, CVD, PD, and SDS. The DBPV relates not only to the autonomic nervous system but also the endocrine system, renal function, mental and physical activity, and biological rhythm. From this viewpoint, there is a limitation in studying DBPV as an autonomic nervous function.

Autonomic Nervous System↗

[A case of Fahr's disease associated with juvenile rheumatoid arthritis].

We studied a case of Fahr's disease type idiopathic intracerebral calcification (Fahr's disease) associated with juvenile rheumatoid arthritis. The patient was a 15-year-old male with a chief complaint of gait disturbance. His family members had no similar signs and symptoms. His parents had no consanguinity. He was born with the normal perinatal course at 1967. He had repeated episodes of convulsive attacks during fever elevation from 2 years and 8 months to 9 years of age. Morning stiffness of bilateral hands, and pernio in the auricles, fingers, planta, and toes had occurred in every winter, since 6 years old. Swelling and pain of the bilateral knee and foot joints appeared, making ambulation difficult in 1983 (15 years old), and the patient was admitted to our hospital in July, the same year. On admission, congenital anomalies such as epicanthus and high-arched palate were noted, and swelling, deformation and contracture of limb joints, and Raynaud phenomenon were shown. His ocular fundus showed no arteriosclerotic change. He didn't have Albright's sign. Mild mental retardation and bilateral pyramidal tract signs were noted, but extrapyramidal tract and cerebellar signs, and sensory disturbance were absent. Laboratory findings exhibited markedly elevated ESR, positive CRP, RA, and antinuclear antibody. The levels of serum Ca, P, alkaline phosphatase and parathyroid hormone were normal. Peripheral blood study showed microcytic and hypochromic anemia. Anti-DNA antibody was negative. Ellsworth-Howard test was positive. Elevated antibody titer to toxoplasma, rubella virus, herpes simplex virus and cytomegalovirus were not proven. He had no chromosomal change.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

The effect of bovine brain gangliosides on essential tremor.

We reported the case of a 74-year-old woman suffering from essential tremor for 20 years which was treated effectively with purified bovine brain gangliosides containing GM1, GD1a, GD1b and GT1b gangliosides. The trials of the treatment were conducted twice, 40 mg and 20 mg gangliosides per day respectively administered intramuscularly. Essential tremor dramatically improved with gangliosides on the second day of treatment, suggesting that the effect of gangliosides was not induced by neuronal sprouting or regeneration. It is speculated that a certain type of essential tremor is a reversible disease of membrane disorder.

Aged↗

Plasma benzylamine oxidase activity in cerebrovascular disease.

The plasma benzylamine oxidase level (BzAO) was determined in 60 patients with different types of acute cerebrovascular disease, such as cerebral bleeding, subarachnoid bleeding and cerebral infarction. Patients with cerebral infarction included both apoplectic and multiple types. A decreased plasma level of the enzyme was found following a stroke in patients with cerebral bleeding, subarachnoid bleeding, and the apoplectic type of cerebral infarction. The BzAO level increased in patients with the multiple type of cerebral infarction. Thus, we postulate that plasma BzAO metabolism is involved in cerebrovascular disease, and that plasma BzAO level varies with the type of cerebral infarction.

Aged↗