A major genotype in UDP-glucuronosyltransferase 2B15

A novel single nucleotide polymorphism (SNP) was found in exon 6 of the UDP-glucuronosyltransferase (UGT) 2B15 gene from healthy Japanese populations. The SNP was as follows: SNP, 020228Toide001; GENE NAME, UGT2B15; ACCESSION NUMBER, U08854, AF180322, and NM_001078; LENGTH, 25 base; 5'-AGCTTGCCAAAAC/AAGGAAAGAAGAA-3'. This SNP was expected to cause a change of an amino acid residue at the position 523 (Thr to Lys) located in a putative co-factor binding region. The allele frequency of this SNP was 79% in Japanese, suggesting this polymorphism to be a major genotype in Japanese people.     

Chinese medicine induces neurite outgrowth in PC12 mutant cells incapable of differentiation

During continuous culture of neural PC12 cells, we obtained a drug-hypersensitive PC12 mutant cell that showed high stimulation of neurite outgrowth by various drugs. When several Chinese medicines such as shu-jing-huo-xie-tang and Wu-Ling-San were provided to these PC12 mutant cells, the frequency of nerve growth factor (NGF)-induced neurite outgrowth increased approximately 30-fold compared to NGF alone. Neurite outgrowth induced by NGF in PC12 cells is accompanied by sustained activation of mitogen-activated protein kinase (MAPK); however, these Chinese medicines did not induce MAPK activity. The findings thus indicate that certain Chinese medicines may induce neurite outgrowth by a novel mechanism which is distinct from the NGF-activated pathway in PC12 mutant cells.     

Functional anatomy of the tensor veli palatini muscle and Ostmann's fatty tissue

This study examined morphological features of the tensor veli palatini muscle (TVPM) and Ostmann's fatty tissue that may be important for eustachian tube (ET) ventilation. Histologic sections through the midcartilaginous ET from 17 human temporal bone-ET specimens (age range. 3 months to 88 years) were used to assess 1) the presence or absence of attachment of the TVPM fibers to either the perichondrium of the ET cartilage lateral lamina (LL) or a tendinous membrane along the medial margin of the TVPM, 2) the angular relationship between the TVPM fibers and the vertical axis of the ET lumen, and 3) the location of the TVPM and Ostmann's fatty tissue. The TVPM fibers were attached to the LL perichondrium in 14 cases; an attachment was absent in 3 cases because of fatty atrophy of the TVPM. However, the TVPM fibers were inserted into the tendonlike membrane in all cases. The angle of insertion of TVPM fibers into the membrane was significantly more acute (relative to the vertical ET axis) in the inferior aspect than in the superior aspect of the membrane both in young children (3 months to 4 years; mean +/- SD, 39.0 degrees +/- 15.1 degrees superiorly to 23.8 degrees +/- 17.0 degrees inferiorly) and in older subjects (8 to 88 years, 30.4 degrees +/- 11.6 degrees superiorly to 15.7 degrees +/- 11.2 degrees inferiorly; t-test, p < .001).The location of Ostmann's fatty tissue accompanied the TVPM throughout the cartilaginous ET. These data suggest that contraction of the TVPM moves the LL inferolaterally to open the superior aspect more than the inferior aspect of the lumen and that Ostmann's fatty tissue will limit the opening of the ET lumen, especially that of its inferior aspect.     

An autopsy case of argyrophilic grain dementia with abundant neurofibrillary tangles]

We reported an autopsy case of "senile dementia" showing neuropathologically abundant neurofibrillary tangles(NFT) and argyrophilic grains(AG) without senile plaques. A Japanese woman developed memory disturbance when she was 70 years old. The patient was hospitalized at age 80 and a cranial CT scan revealed bilateral mild atrophy of the temporal lobes and mild enlargement of the lateral ventricle, especially in the inferior horn. She died at the age of 80. Autopsy showed that her brain weighted 1220 g. Numerous NFT were found in the entorhinal (trans-entorhinal) region, subiculm, CA1-CA4, dentate gyrus, amygdala, nucleus basalis of Meynert, substantia nigra, and locus coeruleus. Furthermore, numerous AG were seen in the temporal lobe(T3, T4), amygdala, prominently in the basolateral nuclei. Obvious neuronal loss with gliosis was noted in the temporal lobes, including the hipocampal regions. Few senile plaques was detected in temporal lobe(T4). Sarkosyl-insoluble tau extracted from the temporal lobe consisted predominantly of four-repeat tau isoforms. To our knowledge, this is the first report of argyrophilic grain dementia complicated with tangle only dementia.     

Cognitive conditions of pathologically confirmed dementia with Lewy bodies and Parkinson's disease with dementia

The relationship between dementia with Lewy bodies (DLB) and Parkinson's disease with dementia (PDD) has been insufficiently described, and it is still problematic. Twenty-nine cases of DLB and 10 cases of PDD were investigated in the present study. DLB cases disclosed a significantly older disease onset and shorter disease duration than PDD cases (p<0.01 each). However, they showed no significant difference in dementia onset or dementia duration (p>0.05 each). Motor symptoms (parkinsonism) were suspected as the cause of the younger disease onset in PDD cases. Compared with 10 age-matched cases of definite Alzheimer's disease, both 19 DLB cases and 6 PDD cases had significantly better scores in the final test of mini-mental state examination (MMSE) and revised version of Hasegawa's Dementia Scale (HDSR) within 12 months before death, although no significant differences between DLB and PDD were indicated. DLB and PDD were suspected to show cognitive impairment of similar severity in the terminal stage. They would thus be difficult to classify as completely different entities.     

The parents' assessment and needs for home mechanical ventilation in patients with pediatric neurological disorders

Parents' of patients with pediatric neurological disorders were sent a questionnaire, on their assessment and needs for home mechanical ventilation (HMV). Nine of 12 enrolled families responded. Respirator troubles were handled by a contracted HMV company. Decreased SpO2 levels and endotracheal bleeding were cared by family members under telephone instructions of doctors, though they felt anxious about dealing the problems. The mothers felt happy to live with their children by virtue of HMV, however, they had strong stress about the management of emergency care and medical care technique. They also felt very tired physically, but refreshed by being free from daily HMV care for a short time and enjoying their own time. The parents were not satisfied with the present house facilities and education system. They evaluated the induction of HMV positively but were most anxious for a better home care nursing system, doctors responding to a house call, more information on HMV, reduction of their anxieties and fatigue, and improvement of economical and educational environments.     

An open trial of risperidone in autistic children

Clinical effects of risperidone were evaluated in 9 young autistic children under informed consent of their parents. The patients were evaluated by the Children's Behavioral Checklist and Rutter's Autistic Behavioral Rating Scale. After the administration, two subjects (playing and adaptation to change) of the Children's Behavioral Checklist and four (anomalous autistic behavior, destructive behavior, developmental problem and activity level) of the Rutter's Autistic Behavioral Rating Scale were improved significantly. There were no serious side effects such as extrapyramidal symptoms except minor adverse effects including sedation, depression, increased appetite and constipation. Risperidone might be effective for serious behavioral disturbances in young autistic children.