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Biomedical subjects

Y Mizoi

Publications and source records attributed to Y Mizoi.

At least 19 recordsLinked to original sources

[A case with upper limb dominant Guillain-Barré syndrome and serum IgG anti-GT1a antibodies: sparing oropharyngeal palsy].

We report a 78-year-old man with Guillain-Barré syndrome (GBS) who showed upper limb dominant muscle weakness following an upper respiratory infection. He had no weakness in extraocular, oropharyngeal and neck muscles. Tendon reflexes were absent in his upper limbs. Electrophysiological studies suggested demyelination of motor nerves in his upper and lower extremities. He had serum IgG antibodies to GM1 and GT1a but not to GQ1b. Anti-GT1a antibodies did not cross-react to GM1 by means of the absorption test. Titers of the antibodies decreased after recovering from muscle weakness of upper limbs. Since the presence of serum antibodies to GT1a but not to GQ1b were reported in patients with pharyngeal-cervical-brachial weakness of Guillain-Barré syndrome, it has been suggested that anti-GT1a antibodies play a role in acute oropharyngeal neuropathy. This is the first report of a patient with GBS lacking oropharyngeal palsy who had serum IgG antibodies to GT1a but not to GQ1b. Our case suggests that anti-GT1a antibodies are related not only with acute oropharyngeal neuropathy but also with upper limb dominant motor neuropathy.

Aged↗

[A case of HIV encephalopathy with dementia which showed significant improvement after the combination antiretroviral therapy].

We report a 63-year-old male with HIV encephalopathy, whose initial symptom was acutely progressing dementia. He tested positive for HIV antibody, and HIV-RNA count was 2.8 x 10(5) copy/ml. All opportunistic infections that could cause dementia were ruled out. Dementia remarkably improved after the combination antiretroviral therapy of three types of drugs, two being nucleoside analog reverse transcriptase inhibitors and one being a protease inhibitor. The combination therapy could be very effective for the treatment of HIV dementia.

AIDS Dementia Complex↗

[Parkinsonism in a patient receiving interferon alpha therapy for chronic hepatitis C].

We report a case of Parkinsonism due to interferon alpha (IFN alpha) therapy for chronic hepatitis C. A 51-year-old female received IFN alpha (Sumipheron@6 x 10(6) IU), three times a week by intramuscular injection. Six months after the initiation of IFN alpha therapy, she noticed tremor of bilateral fingers, and was admitted to our hospital. Neurological examination revealed muscle rigidity, bilateral finger tremor, mild bradykinesia. Tremor was more extreme at posture rather than at rest. She was diagnosed as Parkinsonism, and carbidopa-levodopa therapy was effective. Attention must be paid to Parkinsonism, when IFN alpha is administered.

Chronic Disease↗

Thoracic flexion myelopathy. Case report.

A case of thoracic flexion myelopathy is reported in a 36-year-old man. The patient had a history of gradually progressing transverse thoracic myelopathy. Conventional myelography in the neutral position failed to reveal cord compression; however, a severe block of the dye column was evident on studies in the flexed position. Excellent recovery from this condition was obtained with posterolateral fusion of the thoracic spine in the neutral position.

Adult↗

Molecular basis for subtypic differences of the "a" subunit of coagulation factor XIII with description of the genesis of the subtypes.

The "a" subunit of human coagulation factor XIII (F13A) exhibits genetic polymorphism defined by four common alleles, F13A*1A, *1B, *2A, and *2B. We have previously suggested on the basis of the isoelectric focusing patterns of the four allele products that point mutations at two separate sites and one intragenic crossing over might be involved in the genes of F13A polymorphism. Here, we report nucleotide substitutions associated with F13A polymorphism. A C/T transition of the second nucleotide of codon 564 in exon 12 is responsible for the difference between F13A*1A and *1B and that between F13A*2A and *2B, and a set of two base changes in codons 650 and 651 in exon 14 leads to the differences between F13A*1A and *2A and those between F13A*1B and *2B. The four combinations of the point mutations at the two exons thus correspond to the four alleles, two of which were generated by the point mutations from ancestral monomorphic gene. The results suggest strongly that intragenic crossing over must be involved in the genesis of the fourth allele. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods discriminating these base changes in exons 12 and 14 are also presented.

Alleles↗

Involvement of genetic polymorphism of alcohol and aldehyde dehydrogenases in individual variation of alcohol metabolism.

The involvement of genetic polymorphism at the alcohol dehydrogenase 2 (ADH2) and aldehyde dehydrogenase 2 (ALDH2) loci in determining blood acetaldehyde levels and the rate of ethanol elimination after ethanol intake was investigated. Sixty-eight healthy subjects ingested 0.4 g of ethanol per kg of body weight over 10 min. Blood acetaldehyde levels scarcely increased in the subjects homozygous for ALDH2*1, regardless of their ADH2 genotypes (ADH2*1/*1, ADH2*1/*2 and ADH2*2/*2). The acetaldehyde levels in the subjects with the ALDH2*1/*2 heterozygote increased to 23.4 microM on average, and no significant differences were observed between the three ADH2 genotype groups. Subjects homozygous for ALDH2*2 showed very high levels of blood acetaldehyde, and the average value was 79.3 microM. The values of Widmark's beta 60 (mg/ml/hr) and ethanol elimination rate (mg/kg/hr) showed significant differences among the three ALDH2 genotypes, and in decreasing order the values were ALDH2*1/*1, ALDH2*1/*2, ALDH2*2/*2. However, no significant differences were seen among the ADH2 genotypes.

Acetaldehyde↗

[Investigation of involvement of cerebral white matter in DRPLA--including MRI perfusion study].

Clinical, radiological, and histological examinations were performed on eight patients with autosomal-dominant dentato-rubro-pallido-luysian atrophy (DRPLA) including an autopsy case, to investigate the abnormal findings of the cerebral white matter in DRPLA. Three of the eight patients were found to have diffuse low density on CT or diffuse high-signal areas on T2-MRI in the white matter of the brain. There were no correlations between abnormal findings in the white matter and the following factors; age of onset, duration of the disease, clinical manifestations, disease severity, Hachinski score, or EEG abnormality. Single-photon emission tomography failed to reveal any relative decrease in cerebral blood flow in the white matter, even in the three patients with abnormal findings in the white matter. MRI perfusion studies did not suggest any decrease in cerebral blood volume in any of the patients examined, but in the DRPLA patients the latency, i.e., the interval from the time of injection to the time of the minimum signal intensity, was significantly prolonged in comparison with the results in normal controls. On histopathological investigation, there was diffuse decreased staining in the centrum semiovale and deep white matter of the temporal lobes bilaterally, but no gliosis, or arteriolar thickening or hyalinization were detected. These findings confirmed that the lesions in the white matter in DRPLA are not attributable to cerebral ischemia. The abnormal findings are presumably the result of the degeneration which occurs in DRPLA itself.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

A study on ADH2 and ALDH2 genotyping by PCR-RFLP and SSCP analyses with description of allele and genotype frequencies in Japanese, Finn and Lapp populations.

Genetic polymorphisms of the alcohol dehydrogenase ADH2 and aldehyde dehydrogenase ALDH2 genes were investigated in Japanese, Finn, and Lapp populations by using PCR-RFLP and SSCP analyses. The ALDH2 genotypes were unequivocally determined by a PCR-RFLP assay with a mismatched primer. The determination of the ADH2 genotypes, however, was found to be problematic in PCR with the reported oligonucleotide primer sets because there are high homologies among the ADHl, ADH2, and ADH3 gene sequences. The problem of the heterozygote excess in typing results obtained by using the previously reported PCR-RFLP methods was resolved by nested PCR, in which an internal primer set reamplified the ADH2 sequence selectively from a mixture of the ADH gene sequences amplified in the first PCR amplification of genomic DNA samples as templates. A newly designed primer pair with longer sequences and single 3' end mismatches was later found to achieve a predominant amplification of the ADH2 sequence in a single PCR. RFLP and SSCP analyses of PCR products with the new primer set gave results fully consistent with those by nested PCR. Thus, the ADH2 genotypes defined in this study were free from any typing errors. The ADH2 and ALDH2 allele frequencies observed in this study were found not to be biased significantly from those reported previously from Japanese populations, and these were monomorphic for Lapp and Finn populations.

Alcohol Dehydrogenase↗

[Recent advances in the study on the mechanism of brain injury].

A cerebral contusion and DAI (diffuse axonal injury) are practically very important in a medico-legal case of the closed head injury. In this paper, we will report the epitome of the recent advances in the study on the mechanism of them. Coup contusion can be mainly attributed to the skull inbending and/or the skull fracture which develop in the impact region. As to the mechanism of the contrecoup contusion, several theories are reported. During rotational movement of the head, intracerebral shear strains would be produced because of brain lag (Holbourn's rotation theory). Anatomical features of the skull plays an important role (Gurdjian). Relative movement between a brain and a skull induces intracranial cavitation due to pressure gradient (Gross's cavitation theory). Brain is injured by deformation pressure induced by skull deformation and acceleration one done by a movement of the head (Lindenberg). The last one is Courville's transmitted waves of force theory. As to DAI, there is Gennarelli's theory. During a rotational movement of a brain caused by high rate of angular acceleration operating for a long period, intracerebral shear strains occur and injure a brain. As to the brain injuries which include a cerebral contusion and DAI, two theories are reported. Centripetal progression of strains to the core of a brain injuries the brain (Ommaya). Natural frequency of impact determines the nature of resulting injury to the brain (Willinger).

Biomechanical Phenomena↗

Histo-pathological findings of abraded skins in the cases of automobile dragging.

We histologically examined skin which had been abraded by automobile dragging. In the first case, the victim was a 57-year-old drunken male. He was hit by a passenger car while walking on a road and dragged for a distance of 30 m. He soon died from the pelvic bone fractures. Extensive and deep abrasions were observed on both shoulders and the back. In the second case, a 20-year-old drunken male was lying on a road. He was run over by a passenger car and dragged for a distance of 800 m. During the dragging the car's underbody strongly compressed his thoraco-abdominal region and killed him by causing insufficiency in breathing. Deep abrasions were found in the right temporal region and right back at the waist. In the third case, when a 50-year-old woman was riding a moped it collided with a passenger car at an intersection and she fell to the ground. Soon after, she was run over by another passenger car and dragged for a distance of 718 m. The cause of death was profuse bleeding from the crushed right axillary artery and vein. Autopsy revealed very extensive and severe abrasions in the right upper arm, right axilla, lateral surface of the right chest and abdomen, right back, back pelvic region, and lateral surface of the right lower leg and foot. Especially in the arm, axilla and chest, the skin and soft tissues were worn away, muscles and bones were exposed, and the right axillary artery and vein were crushed.(ABSTRACT TRUNCATED AT 250 WORDS)

Accidents, Traffic↗

[A case of death within 3 hours due to systemic embolism of fat from tibial fractures].

We experienced a case dying of systemic fat embolism shortly after a traffic accident. The man of 83 years old suffered an accident by a car while wheeling his bicycle on a lane through rice fields. His both legs were run over by a wheel of the car. He was fully conscious for some while after the accident. However, while he was taken to a hospital by an ambulance, he suddenly lost consciousness and died 2 hours and 45 minutes after the accident. The autopsy examination revealed the severely fractured tibiae in both legs. The left clavicle and sternum as well as the ribs of both sides were also fractured. Organs in the thoracic and abdominal cavities were slightly congested. The histopathological examinations revealed fat droplets in the small vessels in interlobular connective tissues and many alveolar capillaries of the lungs, many glomeruli of the kidneys and a few capillaries in parietal region of the cerebrum.

Accidents, Traffic↗

Genetic polymorphism of alcohol and aldehyde dehydrogenase and the effects on alcohol metabolism.

Influence of genetic polymorphism at the alcohol dehydrogenase2 (ADH2) and aldehyde dehydrogenase2 (ALDH2) loci on ethanol elimination and blood acetaldehyde level was studied in healthy subjects. Polymorphic regions of the ADH2 and ALDH2 genes were amplified for genomic DNA by using the technique of polymerase chain reaction. The ADH2 genotype was determined by digestion with the restriction enzyme MaeIII and the ALDH2 genotype was defined by hybridization with sequence specific oligonucleotide probes. Both loci were typed for unrelated 58 individuals by using the above methods. The gene frequencies of each locus were estimated as follows; 0.31 and 0.69 for ADH2*1 and ADH2*2, respectively, and 0.73 and 0.27 for ALDH2*1 and ALDH2*2, respectively. These values were consistent with the Hardy-Weinberg equilibrium. Pedigree analysis of 6 families with 46 subjects on both loci confirmed Mendelian inheritance. In order to investigate differences in ethanol elimination among ADH2 and ALDH2 genotype groups, 0.4 g/kg body weight of ethanol was administered to 93 subjects whose genotypes of both loci were determined by the above methods and blood ethanol and acetaldehyde levels were measured. None of the subjects homozygous for the ALDH2*1 allele showed facial flushing and any increase in blood acetaldehyde level. All the homozygotes and heterozygotes with the ALDH2*2 allele exhibited facial flushing, and the former showed a marked increase in blood acetaldehyde level and the latter did a mild increase. On the other hand, the influence of the ADH2 genotype on blood acetaldehyde level was not significant. The values of Widmark's beta 60 (mg/ml/hr) and ethanol elimination rate (mg/kg/hr) showed significant differences among the three groups of the ALDH2 genotypes in each group of the three ADH2 genotypes, and in decreasing order of both the values were ALDH 2*1/*1, ALDH2*1/*2, ALDH2*/*2, However, there were no significant differences in the values among the ADH2 genotypes.

Acetaldehyde↗

Thymus of abused/neglected children.

Forty-six cases of child abuse/neglect autopsied during the period of 1967 to 1990 were investigated. The weight and histological findings of the thymus were compared with those of control children. In most abused and/or neglected children, the weight of the thymus decreased conspicuously. Involution correlated well to the degree and period of maltreatment. In cases without weight loss of the thymus, i.e. spasmodic abuse by a mentally deranged parent or foster parent, a short history of maltreatment was noted. On the other hand, marked involution was observed in cases of prolonged physical abuse and/or neglect. Microscopically, a decrease in the number and pyknosis of lymphocytes were observed in the involuted thymus. Atrophy of the thymus was more conspicuous in the cortex than in medulla. Immunohistochemically, CD-1a positive cells (immature thymocytes) decreased in cases with thymic involution. This involution appears to be an important index of the degree and duration of child abuse/neglect. Furthermore, thymic involution in the early stage of childhood may also be related to insufficiency of the immune system.

Age Factors↗

[Fracture of the cervical spine caused by blow in patient with ankylosing spondylitis--a report of an autopsy case].

Fracture of the cervical spine in a patient with ankylosing spondylitis is presented. A 43-year-old male was involved in a fight when drinking. He received blows to his face and the lower jaw, and fell backward on the street and died. The postmortem examination showed abrasions and subcutaneous hemorrhages on the face and the lower jaw. A transverse fracture was observed through the intervertebral disc space between the fifth and sixth cervical vertebrae. The cervical spinal cord was completely ruptured at the fracture site. Ossification of the supporting ligaments and anterior surface of dics were found. The spine was bony ankylosed. The alcohol levels of blood and urine were 2.95 and 3.84 mg/ml, respectively. The cause of death was paralysis of respiration. The victim had suffered from the ankylosing spondylitis for many years. His neck had no mobility. The X-ray films taken at age 42 showed complete ankylosis of the spine, so-called "bamboo" spine. It seemed that the blow to his face and the lower jaw caused hyperextension of the neck and easily caused the cervical fracture because of the loss of flexibility and fragility from osteoporosis in the ankylosed spine.

Adult↗

[Morphometric and pathologic studies of the brain in autopsied cases of Alzheimer-type dementia].

Human brain sections were analysed by computer-assisted quantitative morphometry. The brains, autopsied at the Department of Legal Medicine, Kobe University School of Medicine and the Medical Examiner's Office of Hyogo Prefecture, included 63 cases of acute death consisting of 49 cases of non-demented and 14 cases of Alzheimer's disease (AD) or senile dementia of Alzheimer-type (SDAT). As for patients of AD and SDAT, they were clinically diagnosed at some medical facilities in their life time. Histopathological diagnosis for AD and SDAT was confirmed by the presence of abundant senile plaques and neurofibrillary tangles. In the non-demented control aging, a modest atrophy occurred throughout the cerebral cortex except the occipital cortex, whereas no sign of atrophy was seen in the medullary white matter. In the AD and SDAT cases, both cortical gray and medullary white matter showed significantly higher degrees of atrophy than in the controls. A further detailed study indicated that the parietotemporal association cortex was specifically affected in the demented brain as compared with the normal aging.

Aging↗

Determination of beta-carbolines in foodstuffs by high-performance liquid chromatography and high-performance liquid chromatography-mass spectrometry.

A high-performance liquid chromatographic method combined with fluorimetric detection is described for the determination of beta-carboline (norharman) and 1-methyl-beta-carboline (harman). The analysis of foodstuffs for the identification of beta-carbolines is facilitated by clean-up samples using Bond Elut PRS cartridges. Recoveries were excellent. Further, a high-performance liquid chromatographic-mass spectrometric method was also developed for their identification. The concentration of beta-carboline among the foodstuffs and alcoholic beverages varied greatly. Also, norharman and harman were observed in uncooked foodstuffs, whereas acetaldehyde was found in most fermented food. The toxicological implication of beta-carbolines in foodstuffs is discussed.

Acetaldehyde↗