Biomedical subjects

Masafumi Ogawa

Publications and source records attributed to Masafumi Ogawa.

At least 19 recordsLinked to original sources

PubMed2006

Evaluation of post-mortem ethanol concentrations in pericardial fluid and bone marrow aspirate.

This study confirmed post-mortem ethanol concentrations in pericardial fluid and bone marrow aspirate in comparison with those in the blood in medicolegal autopsy cases (n = 140, within 48 h post-mortem). The specimens were examined by head-space gas chromatography/mass spectrometry. Ethanol concentrations in the pericardial fluid (y) were approximately equivalent to those in peripheral blood (x): y = 0.99x + 0.02, n = 44, r = 0.972. A high stomach ethanol concentration (>10 mg/ml) appeared to mildly affect the pericardial levels. There was no significant interference in drowning cases. Ethanol concentrations in bone marrow aspirates (y) also showed a good correlation with those in the peripheral blood (x): y = 0.77 x + 0.02, n = 20, r = 0.981. A dissociation was observed in cases of delayed death from hemorrhagic/traumatic shock and elderly victims. These findings suggest that pericardial fluid and bone marrow aspirate can be used as an alternative material when adequate blood specimens are not available.

Bone Marrow↗

PubMed2005

[Perception of dyspnea due to breath-holding in myotonic dystrophy].

Patients with myotonic dystrophy (DM1) rarely complain of dyspnea despite of severe hypoxemia. We studied the perception of dyspnea caused by breath-holding in 9 DM1 patients and 8 healthy control subjects. The patients, as well as the control subjects, complained of dyspnea and showed decrease in SpO2. In none of the patients but one, however, the bottom SpO2 became lower than the minimal SpO2 recorded in 24-hour monitoring. DM1 patients were able to realize hypoxia caused by apnea, although they had not realized hypoxia that already existed. Consequently, the breath-holding test does not uncover a blunted perception of dyspnea in DM1; an afferent system contributable to air hunger sensation in breath-holding is preserved in DM1. Breath-holding test may be useful for a DM1 patient to recognize the significance of sleep apnea.

Adult↗

PubMed2005

[Five fatalities due to inhalation of "asphyxiant gases": pathophysiological analysis in autopsy cases].

Five autopsy cases were examined to investigate fatal factors involved in inhalation of "asphyxiant gases": carbon monoxide (CO, n=3), fluorocarbons (n=1) and butane (n=1). In all cases, there was severe pulmonary edema and congestion in all viscera, suggesting advanced circulatory failure. The airway was filled with bloody froth in cases of fluorocarbons and butane inhalation. In CO intoxication, a marked increase in serum cardiac troponins suggested severe myocardial damage. There were also biochemical findings of respiratory distress (an evident increase in intra-alveolar pulmonary surfactant protein A), alveolar injury (an increase in serum surfactant protein A and D), rhabdomyolysis (myoglobinuria) and prolonged hypoxia (myogenic hyperuricemia) in cases of inhaling incomplete combustion gases. In a case of fluorocarbons gas inhalation, biochemical findings suggested respiratory distress, myocardial ischemia (an increase in serum CK-MB) and advanced hypoxia. Similar findings were observed in a case of butane inhalation, although cardiac troponin levels were low in the peripheral blood. These observations suggested that myocardial damage was prominent in CO intoxication, accompanied by respiratory distress in cases of inhaling incomplete combustion gases, whereas respiratory distress and hypoxia were major findings in cases of fluorocarbons and butane gas inhalation.

Aged↗

PubMed2005

[Long-term treatment of diabetes mellitus in myotonic dystrophy with pioglitazone].

We report beneficial effects of pioglitazone on insulin resistance in diabetes mellitus accompanied with myotonic dystrophy (DM1). We studied eight DM1 patients with diabetes mellitus aged 32 to 60 (mean age 52.1 +/- 8.6 years). Three of them were under glibenclamide treatment, but their plasma glucose control was poor because of occasional hypoglycemia; others had not been treated with any hypoglycemic drugs. We administered a daily dose of 15 mg pioglitazone for 6-36 months (mean period 14.8 +/- 9.1 months). Plasma glucose control improved in all patients. In a 75 g oral glucose tolerance test, plasma glucose level at 120 min dropped from 203.3 +/- 41.7 mg/dl to 153.9 +/- 39.5 mg/dl (p = 0.04); the area under the insulin curve up to 120 min (sigma IRI) dropped from 236.9 +/- 170.2 microU x hr/ml to 169.6 +/- 81.3 microU x hr/ml (p = 0.12). Sigma IRI decreased in four patients with pretreatment sigma IRI > or = 250 microU x hr/ml; it slightly increased in other patients with pretreatment sigma IRI < or = 150 microU x hr/ml. The homeostasis model assessment-insulin resistance (HOMA-IR) improved from 2.1 +/- 1.0 to 1.1 +/- 0.4 (p = 0.04). Impairment of liver functions, cardiac failure, or hypoglycemia was not observed. Pioglitazone treatment is useful to improve insulin resistance and glucose control in DM1 patients with diabetes mellitus, especially patients with reactive hyperinsulinemia to glucose loading.

Adult↗

PubMed2004

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Charcot-Marie-Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35-p36 and mutation in the kinesin family member 1B-beta (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.

Adult↗

PubMed2004

Whole-brain voxel-based correlation analysis between regional cerebral blood flow and intelligence quotient score in Parkinson's disease.

The correlation between regional cerebral blood flow (rCBF) and intelligence quotient (IQ) score was investigated in patients with Parkinson's disease (PD) without severe dementia. We analyzed the (9mTc-ethyl cysteinate dimer single-photon emission computed tomography quantitative images and Revised Wechsler Adult Intelligence Scale scores of 44 PD patients using statistical parametric mapping. Verbal IQ positively correlated with rCBF in the right ventral striatum and the bilateral prefrontal cortex, performance IQ positively correlated with rCBF in the right operculum, insula and the left middle temporal gyrus, and full-scale IQ positively correlated with rCBF in the right operculum, insula and the ventral striatum. The identified areas may be functionally related to mild to moderate cognitive impairment in patients with PD.

Aged↗

PubMed2004

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant cerebellar ataxia caused by expansion of CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. Because the number of triplets in patients with SCA17 in previous studies ranged from 43 to 63, the normal number of trinucleotide units has been considered to be 42 or less. However, some healthy subjects in SCA17 pedigrees carry alleles with the same number of expanded repeats as patients with SCA17. OBJECTIVE: To investigate the minimum number of CAG/CAA repeats in the TBP gene that causes SCA17. DESIGN: We amplified the region of the TBP gene containing the CAG/CAA repeat by means of polymerase chain reaction and performed fragment and sequence analyses. PATIENTS: The subjects included 734 patients with SCA (480 patients with sporadic SCA and 254 patients with familial SCA) without CAG repeat expansions at the SCA1, SCA2, Machado-Joseph disease, SCA6, SCA7, or dentatorubral-pallidolluysian atrophy loci, with 162 healthy subjects, 216 patients with Parkinson disease, and 195 with Alzheimer disease as control subjects. RESULTS: Eight patients with SCA possessed an allele with more than 43 CAG/CAA repeats. Among the non-SCA groups, alleles with 43 to 45 repeats were seen in 3 healthy subjects and 2 with Parkinson disease. In 1 SCA pedigree, a patient with possible SCA17 and her healthy sister had alleles with 45 repeats. A 34-year-old man carrying alleles with 47 and 44 repeats (47/44) had developed progressive cerebellar ataxia and myoclonus at 25 years of age, and he exhibited dementia and pyramidal signs. He was the only affected person in his pedigree, although his father and mother carried alleles with mildly expanded repeats (44/36 and 47/36, respectively). In another pedigree, 1 patient carried a 43-repeat allele, whereas another patient had 2 normal alleles, indicating that the 43-repeat allele may not be pathologic in this family. CONCLUSIONS: We estimate that 44 CAG/CAA repeats is the minimum number required to cause SCA17. However, the existence of unaffected subjects with mildly expanded triplets suggests that the TBP gene mutation may not penetrate fully. Homozygosity of alleles with mildly expanded triplet repeats in the TBP gene might contribute to the pathologic phenotype.

Adult↗

PubMed2004

Pharmacological treatments of cerebellar ataxia.

The confirmed pharmacological treatment of cerebellar ataxia is still lacking. In a recent preliminary trial, we showed that D-cycloserine, a partial NMDA allosteric agonist, may relieve the symptoms. In this paper, major clinical trials to relieve ataxic symptoms are reviewed. Previous studies showed some efficacy of physostigmine in ataxic patients. However, physostigmine did not improve the ataxia in a recent double-blind crossover study. The replacement therapy of the deficient cholinergic system with choline or choline derivatives was tried in patients with Friedreich's ataxia and other ataxic patients, but the result was not definitive. A levorotatory form of hydroxytryptophan (a serotonin precursor), a serotoninergic 5-HT1A agonist, a serotoninergic 5-HT3 antagonist, and a serotonin reuptake inhibitor were also used for the therapy for ataxia. In a double-blind randomized study, buspirone, a 5-HT1A agonist was active in cerebellar ataxia, but the effect is partial and not major. The effects of the studies with the other serotoninergic drugs were not consistent. The effect of sulfamethoxazole-trimethoprim therapy in spinocerebellar ataxia type3/Machado-Joseph disease (MJD) was reported, although the therapy improved spasticity or rigidity, rather than ataxia. In contrast to previous studies, sulfamethoxazole-trimethoprim therapy in MJD had no effect in a 2001 double-blind crossover study. The thyrotropin-releasing hormone, D-cycloserine, and acetazolamide for SCA6 may have some efficacy. However, a well-designed double-blind crossover trial is needed to confirm the effect.

Cerebellar Ataxia↗

PubMed2004

Acceleration effect of human recombinant bone morphogenetic protein-2 on differentiation of human pulp cells into odontoblasts.

Predictable pulp capping procedures remain problematic, possibly because of the lack of appropriate stimulating factors for dentin formation. The present study examines the ability of one such stimulating factor, bone morphogenetic protein-2, to accelerate the differentiation of human dental pulp cells into odontoblasts. The number and morphology of cells between groups treated with 0 and 100 ng/ml of human recombinant bone morphogenetic protein-2 (rhBMP-2) did not significantly differ. However, ALPase activity (a marker for biomineralization) in the group stimulated with rhBMP-2 was more than double that of the control group. We then measured the expression of mRNA encoding dentin sialophosphoprotein (DSPP) as a marker of odontoblasts in rhBMP-2-stimulated human pulp cells using a quantitative polymerase chain reaction. The expression of DSPP mRNA in cells stimulated for 24 h by 1000 ng/ml of rhBMP-2 was approximately 20-fold and 5-fold higher than that by stimulated by 10 and 100 ng/ml, respectively. These findings show that rhBMP-2 promoted the differentiation of human dental pulp cells into odontoblasts but did not affect cell proliferation, suggesting that rhBMP-2 may have therapeutic utility in vital pulp therapy.

Adult↗

PubMed2004

[Two suicide fatalities from sodium cyanide ingestion: differences in blood biochemistry].

We report a case of two suicide fatalities from sodium cyanide ingestion, which showed differences in pathology and blood biochemistry. The victims were a married couple in their 70 years of age, owners of a gilding factory. They were found dead in their bedroom by a family member. Suicide notes and sodium cyanide powder were found in the room. Autopsy revealed eroded gastric mucosae in both victims. In the male, the stomach showed a previous postoperative state of partial resection, and the lungs were more congested and edematous in the male than in the female. In both victims, cyanide was detected in the blood at markedly high concentrations. In postmortem blood biochemistry, a marked elevation of cardiac troponin T, I and CK-MB was observed in the peripheral blood of the male, whereas there was only a mild elevation in the female. In the male, erythropoietin was also markedly elevated. These observations suggested a difference in the dying process following sodium cyanide ingestion between the victims; survival time may have been longer in the male than the female. The absorption of cyanide may have been a contributory factor to the difference.

Aged↗

PubMed2004

[Dysprosody associated with environmental auditory sound agnosia in right temporal lobe hypoperfusion--a case report].

A 60-year-old right-handed man showed dysprosody and agnosia for environmental sounds. His mother tongue was Japanese, and he could not speak foreign languages. He gradually developed difficulty in speaking from the age of 57 years, speaking non-native Japanese. In addition, he often complained of difficulty in hearing sounds, but audiometry showed no abnormalities. At the age of 60 years, the standard language test of aphasia showed no abnormalities in repetition, verbal comprehension, or reading, suggesting the absence of aphasia. However, in speaking, marked abnormality in rhythm, and occasional lack of postpositional particles and syllable-stumblings were observed. Writing was almost accurate, but a few grammatical errors were observed in speaking were observed. There were no cerebellar symptoms, pyramidal signs, pathologic reflexes, or abnormalities in phonation-related organs. Though the recognition of verbal sounds was maintained, impairment in the recognition of non-verbal sounds was observed. An environmental sound perception test showed correct answers only in 8 of 21 non-verbal sound sources (such as a car starting, glass breaking and so on), suggesting agnosia for environmental sounds. He insisted that the difficulty in perception was due to hearing impairment. However, re-examination with an increase in the sound volume showed similar results. He had no inconvenience in daily life and was not aware of agnosia for environmental sounds. He could recognize and differentiate sounds he heard once. His intelligence was normal, and neither apraxia nor frontal lobe symptoms were observed. MRI of the brain revealed slight atrophy of the right temporal lobe. Cerebral blood flow SPECT showed decreased blood flow from the superior temporal gyrus to the area around the arcuate fasciculi in the right temporal lobe. We considered that the lesion responsible for environmental auditory sound agnosia was present in the area around the secondary auditory area of the right temporal lobe and this patient differed from slowly progressive aphasia characterized by decreased blood flow in the left temporal lobe. Although the pathological process occurring in the area of hypoperfusion remained unclear, early stage of some degenerative disorders was more likely than cerebrovascular disease.

Agnosia↗

PubMed2004

[Validation of the Japanese-translated version Multiple Sclerosis Quality of Life-54 instrument].

The Multiple Sclerosis Quality of Life-54 instrument (MSQOL-54) is a specific quality of life (QOL) scale in English for multiple sclerosis (MS). It is composed of 54 items, and is a combination of the 36-item short form health survey (SF-36) and 18 disease-specific questions, such as fatigue, mental sexual and cognitive dysfunction. We developed the Japanese-translated version of MSQOL-54. The SF-36 has been previously validated and published in Japanese; therefore the translation work was performed mainly on the 18 MS specific items. The Japanese-translated version MSQOL-54 was examined in 62 Japanese patients with MS. The mean age of the patients was 42.8 years; mean expanded disability status scale (EDSS) score was 3.0. The ratio of respondents was almost complete for all scales except for those within the sexual scales. Internal consistency reliability estimates for the 11 multi-item scales ranged from 0.65 to 0.93 in 62 patients. Test-retest intraclass correlation coefficients ranged from 0.61 to 0.95 in 20 patients. Compared to the previous reported mean scores of general Japanese population of SF-36, the mean scores of patients with MS had lower scores in all scales. In comparison with an original article in English, the validation of the Japanese-translated version MSQOL-54 may be acceptable. There were no correlations between the results of the Japanese-translated version MSQOL-54 and EDSS except for physical function and physical health composite score. The Japanese-translated version of MSQOL-54 may provide unique information not readily evaluated by EDSS, and may be useful as clinical outcome measures in patients with MS.

Adult↗

PubMed2004

[Maximum phonation time as a tool of screening respiratory muscle weakness in myopathic patients].

UNLABELLED: We examined the relation of maximum phonation time (MPT) and vital capacity (VC) and reviewed the usefulness of MPT as a respiratory function screening. SUBJECTS: 18 healthy adult subjects (8 men and 10 women), and 32 myopathic patients (24 men and 8 women). METHODS: MPT and VC were measured in sitting position. Six patients were tested with and without air stacking by glossopharyngeal respiration. RESULTS: In healthy subjects, MPT was 29.9 +/- 11.8 seconds in men and 21.7 +/- 7.8 seconds in women. Second trials showed good reproducibility. The healthy group had no correlation between MPT and VC. The patient group showed a significant positive correlation between MPT and VC (r2= 0.25, p=0.003). All patients with MPT less than 15 seconds showed VC less than 1.5 l and %VC less than 50%. Air-stacking by glossopharyngeal respiration significantly increased the MPT. CONCLUSIONS: MPT is a useful screening test for respiratory muscle weakness. The patients are easily aware of the effect of air-stacking by glossopharyngeal respiration.

Adult↗

PubMed2003

D-cycloserine for the treatment of ataxia in spinocerebellar degeneration.

We studied the effects of D-cycloserine, a partial NMDA receptor allosteric agonist, on ataxia in patients with spinocerebellar degeneration. Fifteen Japanese ataxic patients enrolled in a 14-day single-blind trial of D-cycloserine (daily oral dose of 50 mg) following a 14-day single-blind placebo phase. At the end of the D-cycloserine administration, there was a significant reduction in the posture, gait and total score of the international cooperative ataxia rating scale and in the time for walking and speech tasks. D-Cycloserine was well-tolerated and no adverse effect was observed. D-Cycloserine may have therapeutic efficacy for spinocerebellar ataxia.

Adult↗

PubMed2003

[Acute alcoholism with myoglobinuria: an autopsy case report].

We report an autopsy case of fatal acute alcoholism showing myoglobinuria and myocardial damage. The victim was a 29-year-old male, who was found drunk at his home. Although he was once brought to a hospital following a police officer's advice, he was taken into custody without effective medical care due to his violent behavior, and died about 16 hours later. Autopsy revealed marked congestion of the viscera and fatty liver. Histologically, skeletal muscle and myocardium showed focal degeneration and necrosis. Immunohistochemical investigation revealed a diffuse myoglobin loss from muscle fibers. Alcohol concentrations were 0.54 mg/ml, 0.79 mg/ml and 2.53 mg/ml in the left, right heart blood and urine, respectively. No other drugs or poisons were detected. The urine was dark brown, showing marked myoglobinuria. Cardiac troponin T, I and CK-MB in the pericardial fluid showed elevated levels even when postmortem influence was taken into consideration. From these observations, the cause of death was determined as myocardial damage from advanced acute alcoholic myopathy accompanied by myoglobinuria, possibly with underlying alcohol abuse. The present case suggests that careful clinical observation and adequate management are essential for an alcoholic patient with neurological symptoms.

Acute Disease↗

PubMed2003

[Dichloroacetate treatment for adult patients with mitochondrial disease].

We report beneficial and adverse effects of sodium dichloroacetate (DCA) in three adult Japanese patients with mitochondrial disease: a 21-year-old male with involuntary movements, optic atrophy, hearing loss, and convulsions (patient 1), a 28-year-old man with mental deterioration, hemianopia, hearing disturbance, and convulsions (patient 2), and a 50-year-old woman with hearing disturbance, generalized muscle atrophy, and insulin dependent diabetes mellitus (patient 3). A3243G mutation was found in patient 2 and patient 3. Oral administration of DCA improved consciousness level and gait disturbances in patient 1, and ameliorated headaches, easy fatiguability, and muscle cramps in patient 2 and patient 3. DCA normalized high levels of lactate and pyruvate in blood and cerebrospinal fluids in all three patients. In patient 3, daily insulin needs decreased from 38 to 24 units, and urine C peptide increased from an undetectable level to 16 micrograms/day. In patient 1, DCA 23 mg/kg/day had been beneficial without adverse effects and he became free of convulsions for more than 32 months. However, despite of normal lactate and pyruvate, unsteady gait and lethargy developed after 50 mg/kg/day treatment for two months and one month in patient 2 and patient 3, respectively. In both patients, deep tendon reflexes disappeared and Romberg sign became positive. Nerve conduction studies confirmed sensory-dominant polyneuropathy and electroencephalogram showed diffuse slow basic activities. Cessation of DCA resulted in recovery of gait and consciousness, but sensory nerve action potentials did not recover in one month. Long term treatment of 50 mg/kg/day DCA may affect adversely the peripheral and central nervous systems in adult patients. Although effective plasma DCA concentration was previously reported as 25-160 micrograms/ml in patients under 18 years old, plasma DCA concentration of 10.2 micrograms/ml was sufficient in patient 1. We recommend lower dose of DCA in adult patients than in child patients.

Adult↗

PubMed2003

[A follow-up study on brainstem atrophy in progressive supranuclear palsy--when does brain MRI contribute to the differential diagnosis between progressive supranuclear palsy and Parkinson disease?].

OBJECTIVE: To investigate when the MRI can discriminate progressive supranuclear palsy (PSP) from Parkinson disease (PD). METHODS: We obtained the following parameters using T1-weighted axial images of the midbrain and the middle pons from 40 studies of 17 PSP patients and 26 studies of 26 PD patients; 1. anteroposterior diameter of the pons (Pons AP), 2. anteroposterior length of the pontine tegmentum (Pons T), 3. anteroposterior diameter of the midbrain (Midbrain AP), 4. ratio of anteroposterior diameter of the pontine base to that of the pontine tegmentum (Pons B/T ratio), 5. ratio of the sum of the bilateral crus cerebri widths to the midbrain AP (Midbrain [Cr + Cl]/AP ratio). All the PSP patients were studied more than twice and each study was classified into four groups according to the duration of the illness; (1) less than 24 months (7 studies), (2) from 24 to 47 months (10 studies), (3) from 48 to 71 months (14 studies) and (4) 72 months or longer (9 studies). RESULT: The first MRI studies (duration of disease 39.9 +/- 22.1 months) were compared with the second studies (duration of disease 67.6 +/- 31.6 months) in 17 PSP patients. Pons AP, Pons T, and Midbrain AP were significantly smaller in the second studies, indicating progressive pontine and midbrain atrophy. Compared with the PD group, the PSP group showed significant atrophy four years after onset of the disease in Pons AP and two years in Pons T. Pons B/T ratio, and Midbrain [Cr + Cl]/AP ratio were significantly smaller in the PSP group two years after onset, suggesting midbrain and pontine tegmentum atrophy. The diagnostic MRI criteria of Pons B/T ratio more than four and Midbrain [Cr + Cl]/AP ratio more than two each showed accuracy in PSP of more than 70% two years after onset. CONCLUSIONS: Discrimination of PSP from PD was difficult during the first two years after onset. The atrophic process in the midbrain and the pontine tegmentum may precede that of the pontine base. Pons B/T ratio and Midbrain [Cr + Cl]/AP ratio presented here are potentially good indexes for the discrimination of these two diseases.

Aged↗

PubMed2002

An acute fatality from suicidal caustic soda ingestion complicated by stab wound penetrating the stomach.

Acute death from caustic ingestion is uncommon. We report an autopsy case of acute fatality from suicidal ingestion of a liquid caustic soda solution with peritoneal leakage due to a stab wound to the stomach. The victim was a 58-year-old man, who died about 1 h after being transported to a hospital emergency care unit. There were corrosive erosions around the mouth and a stab wound in the lower chest. The tongue, pharynx, larynx, esophagus, stomach and the proximal portion of the duodenum were all eroded and edematous. The stab wound perforated the diaphragm and stomach, accompanied by liquefactive corrosion in the left-lower thoracic and left-upper peritoneal cavities. There was a marked elevation of the postmortem serum sodium concentration and alkalosis. The observations suggested peritoneal absorption of leaked caustic soda solution, which may have greatly contributed to the acute fatality despite an intensive clinical life support.

Journal Article↗