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Biomedical subjects

H Tanabe

Publications and source records attributed to H Tanabe.

At least 91 records · Page 5Linked to original sources

Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

Benign adult familial myoclonic epilepsy is an autosomal dominant idiopathic epileptic syndrome characterized by adult-onset tremulous finger movement, myoclonus, epileptic seizures, and nonprogressive course. It was recently recognized in Japanese families. In this study, we report that the gene locus is assigned to the distal long arm of chromosome 8, by linkage analysis in a large Japanese kindred with a maximum two-point LOD score of 4.31 for D8S555 at recombination fraction of 0 (maximum multipoint LOD score of 5.42 for the interval between D8S555 and D8S1779). Analyses of recombinations place the locus within an 8-cM interval, between D8S1784 and D8S1694, in which three markers, D8S1830, D8S555, and D8S1779, show no recombination with the phenotypes. Although three other epilepsy-related loci on chromosome 8q have been recognized-one on chromosome 8q13-21 (familial febrile convulsion) and two others on chromosome 8q24 (KCNQ3 and childhood absence epilepsy)-the locus assigned here is distinct from these three epilepsy-related loci. This study establishes the presence of a new epilepsy-related locus on 8q23.3-q24.11.

Adolescent↗

Genetic polymorphism of aldehyde dehydrogenase 2 in patients with upper aerodigestive tract cancer.

BACKGROUND: Alcohol consumption is one of the major risk factors of the upper aerodigestive tract (UADT) cancers, and combined cancers are frequently discovered in the patients with UADT cancer. The association between esophageal cancer and alcohol-related metabolizing enzymes is well studied, but only a few examinations about the association between head and neck cancer and the enzymes were performed. METHODS: Fifty-two patients with UADT cancer (head and neck cancer in 25, esophageal cancer in 19, and multiple cancers in 8) were examined in the alcohol habit and in the polymorphisms of aldehyde dehydrogenase 2 (ALDH2) and cytochrome P-4502E1. RESULTS: Patients with multiple cancers had significantly higher ethanol consumption than the other two groups (p < 0.001). The frequency of ALDH2*1/2*2 heterozygote was significantly lower (p = 0.009) in patients with head and neck cancer (5/25) than patients with esophageal cancer (11/19). The allele frequency of P-4502E1 did not show a significant difference between the groups (p = 0.700). CONCLUSIONS: These results demonstrated the difference in the frequency of ALDH2 heterozygote between the patients with esophageal cancer and patients with head and neck cancer.

Aged↗

Increase of serum des-gamma-carboxy prothrombin in alcoholic liver disease without hepatocellular carcinoma.

The purpose of this study is to determine serum des-gamma-carboxy prothrombin (DCP) levels in benign liver diseases by a new sensitive method, and to demonstrate the elevation of serum DCP in alcoholic liver disease (ALD) without hepatocellular carcinoma (HCC). Median values of serum DCP were 16.2 mAU/ml (range: 3.2 to 1570 mAU/ml) in ALD and 16.7 mAU/ml (1.2 to 75.4 mAU/ml) in viral liver disease (VLD). Using the cut-off value of 40 mAU/ml as a tumor marker for HCC, 21% (11/52) was positive in ALD and 2% (1/57) was positive in VLD (p = 0.0014, Fisher's exact probability test), and 27% (9/33) was positive in alcoholic liver cirrhosis and 3% (1/39) was positive in viral liver cirrhosis (p = 0.0042, Fisher's exact probability test). The positive rate of DCP was significantly (p < 0.001, Spearman's rank correlation test) correlated with the severity of liver disease in ALD. Serum vitamin K level was not decreased in cases with ALD. In a demonstrable case, serum DCP was decreased after abstinence and was increased again after the beginning of ethanol intake, suggesting the involvement of ethanol to the elevation of serum DCP in ALD. In conclusion, serum DCP was significantly elevated in ALD, compared with VLD, although the mechanism of the elevation of DCP was not clarified. Ethanol intake may act, in part, on the increase of serum DCP in ALD.

Aged↗

Molecular characterization of the PhoP-PhoQ two-component system in Escherichia coli K-12: identification of extracellular Mg2+-responsive promoters.

We identified Mg2+-responsive promoters of the phoPQ, mgtA, and mgrB genes of Escherichia coli K-12 by S1 nuclease analysis. Expression of these genes was induced by magnesium limitation and depended on PhoP and PhoQ. The transcription start sites were also determined, which allowed us to find a (T/G)GTTTA direct repeat in their corresponding promoter regions.

Adenosine Triphosphatases↗

Retrograde temporal order amnesia resulting from damage to the fornix.

Some amnesic patients show an impairment of temporal order memory that cannot be accounted for by content memory deficits. The performance of an amnesic patient on memory tasks assessing the patient's content and temporal memories for remotely acquired material is described, after a lesion including the bilateral anterior fornix and adjacent anterior thalamus. The patient displayed a deficit in the temporal order tasks for remotely acquired information. Neither frontal cognitive deficits nor recognition deficits can account for this patient's poor temporal memory. This retrograde temporal order memory impairment without content memory deficits were not seen in previously reported thalamic amnesic patients. Accordingly, the present patient's poor retrograde temporal memory could hardly be explained by only a thalamic lesion. It is concluded that the patient's impairment of temporal order memory for the retrograde material is probably due to the direct disconnection between the frontal lobe and the hippocampus by disruption of the fornix.

Amnesia↗

Role of somatosensory feedback from tools in realizing movements by patients with ideomotor apraxia.

In order to investigate the underlying mechanism of ideomotor apraxia, we studied 9 patients who could not mime using tools despite the ability to manipulate actual tools normally. In all the mime tasks, visually presented tools or model gestures by examiners were fundamentally ineffectual in improving the patients' performances. Even the remarkable improvement demonstrated when using actual tools disappeared immediately after the subjects took their hands off them. In a further experiment, 4 of the 9 patients were required to pretend to use tools while holding a stick, resulting in significant improvements or normal miming. These findings suggest that the somatosensory feedback continuously supplied from a handheld tool is a crucial component in enabling patients with ideomotor apraxia to actually use tools.

Acoustic Stimulation↗

[Report of three cases of emergency operation for acute pulmonary embolism].

Three successful surgical cases of acute pulmonary embolism with severe cardiopulmonary impairment were reported. Currently, thrombolysis is widely accepted as the front-line treatment for most patients with pulmonary embolism. However, treatment failure is high and can lead to death in the most severe cases. If these patients have severe cardiopulmonary impairment, pulmonary embolectomy should be done immediately.

Acute Disease↗

[Japanese version of the Short-Memory Questionnaire and Mini-Mental State Examination in relation to demographic variables: community survey of elderly healthy residents in Nakayama, Japan].

BACKGROUND AND PURPOSE: The Short-Memory Questionnaire (SMQ) developed by Koss et al. is a standardized, validated reliable informant-based scale to assess everyday memory problems. In the previous study, we prepared its Japanese version and validated the reliability in assessing patients with Alzheimer Disease. In the present study, we examined the relations between the performance evaluated by the Japanese version of the SMQ combined with the Mini-Mental State Examination (MMSE) and demographic variables (age, sex, and education). SUBJECTS AND METHODS: Subjects were a total of 613 elderly healthy individuals living in the rural residency of Nakayama, Japan. They consisted of 287 males and 326 females and ranged from 65 to 94 years in age and from 0 to 16 years in education. The MMSE was conducted by neuropsychiatrists to assess the severity of cognitive impairment, and the SMQ was conducted by public health nurses, who asked a family member of each subject. The effects of age, sex and education on the MMSE and SMQ scores were analyzed by analysis of variance (ANOVA) using post-hoc Scheffé test. RESULTS: The mean MMSE and SMQ scores (+/- SD) were 27.6 (+/- 2.5) and 44.5 (+/- 2.1), respectively. The post-hoc Scheffé test revealed significantly higher MMSE scores for individuals with 8 years or more in education than for those with less than 8 education years. Between males, no significant differences were observed in MMSE score; however, among females, significantly higher scores were noted in those aged 69 or younger than in those aged 70-74 or those aged 80 or older. Of individuals aged 80 or older, males showed significantly higher scores than females, whereas no significant differences were observed between sex in other age groups. As to the SMQ, higher scores were shown by persons with longer education years and by females than males. CONCLUSION: Low MMSE scores were related to low education level and older females. Low SMQ scores were not related to aging, but linked to low education level and males. Both the MMSE and SMQ, which can be easily administered, are affected by education years and sex. In addition, MMSE score depends on age. Therefore, careful consideration should be paid to age, education level and sex for future execution of the MMSE and SMQ.

Aged↗

[Pick's disease].

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Dementia↗

[Two cases of fronto-temporal dementia without remarkable lobar atrophy].

Front-temporal dementia (FTD), advocated by Lund and Manchester groups, includes Pick type corresponding to the conventional frontal Pick's disease, motor-neuron type associated with neural symptoms, and frontal lobe degeneration type. In Japan, however, there have been few case reports of the frontal lobe degeneration type. Here we examined clinical characteristics and imaging findings of 2 cases of FTD frontal lobe degeneration type. Neurological examinations were normal. CT and MRI scans revealed no obvious frontal lobar atrophy, while HMPAO-SPECT scans demonstrated remarkable hypoperfusion in anterior hemisphere. Neuropsychological examination revealed frontal symptoms, including personality change, stereotypes, and disinhibition. These symptoms can not be distinguished from the cases of FTD Pick type, because those cases of FTD Pick type have obvious lobar atrophy.

Aged↗

Perception and conception: separate memory systems in the medial temporal lobe.

The purpose of the present study was to investigate, by using positron emission tomography, whether the functionally different types of information are subserved by different memory systems in human medial temporal lobe structures. Before explicit retrieval tests during scans, subjects studied words in perceptually and conceptually processed manners separately. It was found that different parts of the medial temporal lobe structures were involved in each of the different conditions. These results indicated that perceptually and conceptually processed types of information were subserved by at least two partially segregated memory systems in human medial temporal lobe structures.

Adult↗

[Hyperostotic optic canal stenosis caused by mucocele of the posterior ethmoid sinus: a case report].

We reported a rare case of hyperostotic optic canal stenosis caused by mucocele of the posterior ethmoid sinus. A 49-year-old woman presented with progressive right visual disturbance. She had a visual acuity loss, a ring-shaped visual field defect, and a choked disc in the right eye. An X-ray of Rhese-Goalwin's view revealed a right optic canal stenosis. A CT scan also disclosed regional hyperostosis in the right lateral wall of the posterior ethmoid sinus. The posterior ethmoid sinus had a small cystic mass which was diagnosed as a mucocele by MR images. The patient's symptoms recovered rapidly after an operation for the extradural optic canal release through right frontotemporal craniotomy. We supposed that spread of an inflammation by mucocele was able to cause regional hyperostosis in the wall of the ethmoidal sinus, which led to optic canal stenosis.

Ethmoid Sinus↗

Studies on karyotype evolution in higher primates in relation to human chromosome 14 and 9 by comparative mapping of immunoglobulin C epsilon genes with fluorescence in situ hybridization.

Karyotypic homologies in relation to human chromosome 14 and 9 were studied through comparative mapping of the immunoglobulin C epsilon genes in higher primates by fluorescence in situ hybridization (FISH) technique. The C epsilon genes will be suitable probes for the analysis of evolutionary rearrangements due to that the multiple recombinational events such as gene duplications and deletions have occurred repeatedly in the immunoglobulin CH gene family (IGH@) during the course of primate evolution. IGH@ locating on the terminal region of human chromosome 14 (HSA14), at band HSA14q32.33, has generated multiple pseudogenes and among subclasses of IGH@ the C epsilon genes have shown most dynamic changes with generating both truncated type (C epsilon 2) and processed type (C epsilon 3) pseudogenes. In this study, chromosomal homologies and rearrangements on HSA14 (C epsilon 1) and HSA9 (C epsilon 3) in relation to the evolutionary genesis of their primate homologous chromosomes in speciation were investigated by comparative mapping with FISH and chromosome painting (ZOO-FISH) techniques. Comparative mapping of the C epsilon 1 gene at HSA14q32.33 was carried out in seven species of nonhuman primates: common chimpanzee (PTR), pygmy chimpanzee (PPA), gorilla (GGO), orangutan (PPY), white-handed gibbon (HLA), agile gibbon (HAG), and Japanese macaque (MFU). The C epsilon 1 gene was assigned to the telomeric region of HSA14 homologues in each species, namely, PTR15q32, PPA15q32, GGO18q16, PPY15q32, HLA17qter, HAG17qter, and MFU7q29, respectively. These results suggested that HSA14 has high degree of syntenic organization with its primate homologues confirmed by ZOO-FISH. Concerning HSA9, comparative mapping of the C epsilon 3 gene at HSA9p24.2-->p24.1 was performed. The mapped positions indicated the HSA9 homologous regions detected by ZOO-FISH in each species, namely, PTR11q34, PPA11q34, GGO13q22, PPY13q16, HLA8qter, HAG8qter, and MFU14q22, respectively, suggesting that several dynamic chromosomal rearrangements including at least twice pericentric inversions have occurred during the course of hominoid evolution. The comparison of syntenic groups and painting results has provided a hypothesis of the evolutionary genesis of HSA9 and its homologues with defined breakpoints on the present chromosomes. Likewise, studies on karyotype evolution will be promoted by combining comparative mapping with ZOO-FISH that can more clearly define the chromosomal rearrangements among species.

Animals↗

Aberrant muscle activation in patients after resection of non-primary motor areas: demonstration by surface electromyography.

Two patients presented with a tumor involving mainly the supplementary motor area or the premotor cortex. Shortly after tumor resection, each developed transient impairment of voluntary movements. An electromyogram, with the skin electrodes placed over the muscles of the upper arms and forearms, demonstrated aberrant ipsilateral, contralateral or bilateral muscle activation during unilateral motor tasks in both patients. The bilateral activation was more prominent in the patient who had an intact dominant hemisphere. The present study suggests for the first time the importance of non-primary motor areas of the human brain in activating the proper set of muscles on the proper side of the body.

Adult↗

Detection of human herpesvirus 7 (HHV-7) DNA in breast milk by polymerase chain reaction and prevalence of HHV-7 antibody in breast-fed and bottle-fed children.

Twenty-nine breast milk mononuclear cell samples were analyzed for human herpesvirus 7 (HHV-7) DNA, human herpesvirus 6 (HHV-6) DNA, and human cytomegalovirus (HCMV) DNA by polymerase chain reaction (PCR). In addition, peripheral blood mononuclear cell samples from 13 puerperants were analyzed for HHV-7 DNA by PCR, and seropositivity of HHV-7 was also analyzed in breast-fed and bottle-fed children. HHV-7 DNA was detected in 3 of 29 breast milk samples. HCMV DNA was also detected in 3 of 29 breast milk samples, but HHV-6 DNA was not detected. HHV-7 DNA was detected in 11 of 13 samples of peripheral blood mononuclear cells. Though the seropositivity rate for HHV-7 in breast-fed children was slightly higher than that in bottle-fed children at 18 and 24 months old, the difference was not statistically significant. From these results, we speculate that breast-feeding may be one of the transmission routes of HHV-7, although this is not the main route.

Antibodies, Viral↗

The first cooperative living-related donor liver transplantation performed by two separate institution teams: The Kanagawa Liver Transplantation Program.

With the cooperation of surgeons in two separate institutes, living-related donor liver transplantation was safely performed at the Kanagawa Children's Medical Center. The donor operations were carried out at Kanagawa Cancer Center by surgeons of the hepatobiliary division and the liver grafts were immediately transported to Kanagawa Children's Medical Center by ambulance, and transplanted orthotopically. Since January 1995, five children with biliary atresia have been given partial liver grafts obtained from their mothers. The liver grafts were transported within 20 min, and functioned immediately after transplantation. The development of a pediatric liver transplantation program requires a multidisciplinary approach that can be provided only in a large tertiary referral children's medical center. Preparation for the clinical program involves training of surgical and nursing team members, both in an animal laboratory and at an established liver transplantation center. Special support for the program by the institute is essential and involves medical, nursing, and administrative divisions as well as social services, operating room personnel, and intensive care unit facilities. After careful planning, and with the invaluable help of the donor operating team, the Kanagawa Liver Transplantation Program has been realized, and its first transplantations conducted safely and successfully.

Adolescent↗