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2.  Mexiletine on segmental hyperhidrosis 
doi:10.1136/jnnp.73.3.351
PMCID: PMC1738024  PMID: 12185188
3.  Spastin gene mutation in Japanese with hereditary spastic paraplegia 
Journal of Medical Genetics  2002;39(8):e46.
doi:10.1136/jmg.39.8.e46
PMCID: PMC1735214  PMID: 12161613
5.  Twenty CAG repeats are sufficient to cause the SCA6 phenotype 
Journal of Medical Genetics  2001;38(11):e38.
doi:10.1136/jmg.38.11.e38
PMCID: PMC1734762  PMID: 11694552
6.  Reversible brain dysfunction in MELAS: MEG, and 1H MRS analysis 
This case report describes a follow up investigation of a patient with impaired word discrimination due to mitochondrial encephalopathy with lactic acidosis and stroke-like syndrome (MELAS) using proton magnetic resonance spectroscopy (1H MRS) and auditory evoked magnetic fields (AEFs). The initial 1H MRS showed no N-acetyl aspartate (NAA) and marked accumulation of lactate (Lac) in the stroke-like lesion of MELAS, which was silent in neural activity according to AEFs. The follow up investigations, however, demonstrated that NAA reappeared, that the formerly increased Lac signal was significantly reduced, and that the magnitude of AEFs of the lesion was markedly increased. Metabolic and functional changes in 1H MRS and AEFs reflected the neurological recovery very well. The stroke-like lesion was shown, using AEFs and 1H MRS, to be able to function properly, although brain tissue of the lesion initially had severe damage due to mitochondrial dysfunction.


doi:10.1136/jnnp.70.5.675
PMCID: PMC1737354  PMID: 11309465
9.  Focal (segmental) dyshidrosis in syringomyelia 
The features or mechanisms of dyshidrosis have not been sufficiently clarified. Neither has the difference between hyperhidrosis and hypohidrosis. To clarify the features and mechanisms of dyshidrosis (hyperhidrosis and hypohidrosis) in syringomyelia, the clinical features focusing on hidrosis of 30 patients with syringomyelia and Chiari malformation located from a syringomyelia database were prospectively analysed. The patients were classified into three groups: eight patients (26.7%) had segmental hypohidrosis, 10 (33.3%) had segmental hyperhidrosis, and 12 (40.0%) had normohidrosis. We found that the Karnofsky functional status for the hyperhydrosis and normohidrosis groups were significantly higher than for the hypohidrosis group (p=0.0012), with no significant differences between the hyperhidrosis and normohidrosis groups. The duration from the onset of syringomyelia to the current dyshidrosis was significantly longer in the hypohidrosis group than in the hyperhidrosis group (p=0.0027). A significant correlation was identified between the duration from the onset of syringomyelia to the time at study and the performance score (r=−0.599, p=0.0003). The results substantiate previous hypotheses that in its early stage syringomyelia causes segmental hyperactivity of the sympathetic preganglionic neurons, and hyperactivity of these gradually subsides as tissue damage progresses. Focal hyperhidrosis may be regarded as a hallmark of a relatively intact spinal cord, as well as normohidrosis.


PMCID: PMC1736412  PMID: 10369833
12.  Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. 
Journal of Medical Genetics  1995;32(8):590-592.
Spinocerebellar ataxia 1 (SCA1) is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome 6. Precise mapping has shown a positional relationship to closely linked markers in the order of D6S109-D6S274-D6S288-SCA1-AM10GA-D6S89+ ++-EDN1 from centromere to telomere. The haplotype which cosegregated with the disease was determined in 12 Japanese pedigrees with SCA1. Although the alleles of the SCA1 haplotype varied from pedigree to pedigree, depending on the distance from the SCA1 locus, the affected and presymptomatic subjects carried the same alleles at D6S288 and D6S274. All the families with SCA1 had migrated from either Miyagi or Yamagata Prefectures, neighbouring areas in the Tohoku District, the northern part of Honshu which is the main island of Japan. It seems highly likely that SCA1 in the Japanese, at least those residing in Hokkaido, derives from a single common ancestry.
PMCID: PMC1051630  PMID: 7473647
13.  Erdheim-Chester disease and slowly progressive cerebellar dysfunction. 
A 59 year old woman developed pronounced thirst, increased water intake, and increased urinary output followed by slowly progressive cerebellar symptoms. Brain MRI showed abnormal hyperintensity on T2 weighted studies in the region of both dentate nuclei without atrophy of the cerebellum or the brainstem. A 99mTC diphosphonate bone scan showed bone lesions in the distal parts of both femurs as well as distal and proximal parts of both tibias. The diagnosis of Erdheim-Chester disease was made by bone biopsy. This is the first case of Erdheim-Chester disease presenting as a slowly progressive cerebellar syndrome and diabetes insipidus, and also showing high signal lesions in deep cerebellar nuclei on MRI. Skeletal surveys are indicated for patients with otherwise unexplained slowly progressive cerebellar symptoms.
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PMCID: PMC1073327  PMID: 7876861
15.  Residual neurobehavioural effects associated with chronic exposure to mercury vapour. 
To find the residual effects of long term exposure to mercury vapour, neurobehavioural tests were given to ex-mercury miners about 18 years after the end of mercury exposure. Seventy six male ex-mercury miners who had been exposed to high concentrations of mercury vapour (over 1.0 mg/m3) and with a history of mercury intoxication were compared with controls matched for age (within 3 years), sex, and education. Although the extent of the workers' symptoms caused by mercury poisoning, termed erethismus merculialis, decreased considerably after the end of exposure, matched paired comparison showed that performances of motor coordination, simple reaction time, and short term memory had deteriorated significantly in the exposed group. Multiple linear regression analysis of exposure variables with neurological examination measures showed positive correlations between poorer neurological performance and variables related to mercury exposure. Thus the duration of exposure correlated with poorer performance of hand-eye coordination, tapping, and a colour card reading test. Job categories classified by exposure to mercury also had a significant negative correlation with these performances. The period of years after the end of exposure had a significant correlation with better performance of reaction time and digit span. On the other hand, the history of intoxication itself had no significant correlation with any of the current neurobehavioural performances. These results suggest that there are slight but persistent effects on neurobehavioural function, especially on motor coordination, among mercury miners even more than 10 years after the end of exposure.
PMCID: PMC1127898  PMID: 8124461
16.  MRI-pathological correlate of brain lesions in a necropsy case of HTLV-I associated myelopathy. 
A postmortem case of HTLV-I associated myelopathy (HAM)/tropical spastic paraparesis (TSP) with a history of remission and exacerbation of neurological signs and symptoms, resembling those of multiple sclerosis is reported. MRI analysis revealed lesions in the periventricular white matter in addition to atrophy of the thoracic spinal cord, characteristic of HAM/TSP. The cerebral periventricular areas consisted of ill-defined paucity of myelin sheaths with astrocytic gliosis and hyaline thickening of blood vessels. The poorly demarcated white matter lesions found in both brain and spinal cord were different from plaques found in multiple sclerosis. It is suggested that, in some cases of HAM/TSP, inflammatory lesions that destroy myelin can involve not only the spinal cord but also the cerebral periventricular white matter.
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PMCID: PMC1014821  PMID: 8437009
17.  In vitro activity of LJC10,627, a new carbapenem antibiotic with high stability to dehydropeptidase I. 
The in vitro activity of LJC10,627, a new carbapenem, was compared with those of imipenem and ceftazidime. LJC10,627 had broad-spectrum activity against gram-positive and gram-negative clinical isolates. The MICs of this compound for 90% of members of the family Enterobacteriaceae tested (MIC90s), including strains resistant to ceftazidime, ranged from 0.1 to 25 micrograms/ml. LJC10,627 inhibited Pseudomonas aeruginosa at an MIC90 of 3.13 micrograms/ml; it thus was twofold more active than imipenem. This compound inhibited Haemophilus, Neisseria, and Branhamella species at MIC90s of 3.13, 0.1, and 0.1 micrograms/ml, respectively. LJC10,627 was two- to fourfold less active than imipenem against methicillin-susceptible Staphylococcus aureus and Staphylococcus epidermidis at MIC90s of 0.1 and 0.39 microgram/ml. However, the compound was found to be twofold more active than imipenem against Bacteroides fragilis at an MIC90 of 1.56 microgram/ml. LJC10,627 was very stable to various beta-lactamases except for Xanthomonas maltophilia oxyiminocephalosporinase type II. LJC10,627 was minimally hydrolyzed by swine renal dehydropeptidase I; its residual activity was 93.0% after 2 h. Killing kinetics of this compound for Escherichia coli and Pseudomonas aeruginosa showed that bactericidal action occurred at concentrations above the MIC (0.05 and 0.39 microgram/ml, respectively). LJC10,627 had a high affinity for penicillin-binding proteins 2, 4, and 1B(s) of Escherichia coli and Pseudomonas aeruginosa and penicillin-binding proteins 1 and 4 of Staphylococcus aureus.
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PMCID: PMC171745  PMID: 2203313
19.  The aetiology of mirror writing: a new hypothesis. 
Twenty-eight cases of mirror writing were seen during a period of three and a half years. These consisted of 12 patients with essential tremor, nine with Parkinson's disease, three with spino-cerebellar degeneration and four other cases. There were no cases of hemiparesis, aphasia, apraxia, agnosia or confusion. Fragmentary reversals were excluded from this study. Since essential tremor, Parkinsonian tremor and cerebellar tremor can be abolished by a stereotaxic produce applied to the thalamus, a common neural pathway via the thalamic nuclei may exist in these disorders. The existence is therefore proposed of some neural mechanism that controls the higher cerebral function of writing via the thalamus.
PMCID: PMC1032596  PMID: 3437291
20.  Rigidity and dorsiflexion of the neck in progressive supranuclear palsy and the interstitial nucleus of Cajal. 
Rigidity and dorsiflexion of the neck are typical signs in progressive supranuclear palsy, but the responsible areas in the brain are unknown. To examine whether bilateral lesions of the interstitial nucleus of Cajal (INC) in the midbrain tegmentum contribute to the signs of patients with progressive supranuclear palsy, we have made bilateral INC lesions in cats and tried to correlate these studies with clinical and pathological data, including our case of progressive supranuclear palsy. Bilateral INC lesioned cats showed dorsiflexion of the neck and impairment of vertical eye movement, similar to progressive supranuclear palsy patients. Analysis of the previous clinical-pathological studies and our case have shown that dorsiflexion of the neck in progressive supranuclear palsy patients was correlated more with INC lesions than lesions of the basal ganglia.
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PMCID: PMC1032355  PMID: 3668569
23.  Gene expression analysis of rheumatoid arthritis synovial lining regions by cDNA microarray combined with laser microdissection: up-regulation of inflammation-associated STAT1, IRF1, CXCL9, CXCL10, and CCL5 
Objectives
The main histological change in rheumatoid arthritis (RA) is the villous proliferation of synovial lining cells, an important source of cytokines and chemokines, which are associated with inflammation. The aim of this study was to evaluate gene expression in the microdissected synovial lining cells of RA patients, using those of osteoarthritis (OA) patients as the control.
Methods
Samples were obtained during total joint replacement from 11 RA and five OA patients. Total RNA from the synovial lining cells was derived from selected specimens by laser microdissection (LMD) for subsequent cDNA microarray analysis. In addition, the expression of significant genes was confirmed immunohistochemically.
Results
The 14 519 genes detected by cDNA microarray were used to compare gene expression levels in synovial lining cells from RA with those from OA patients. Cluster analysis indicated that RA cells, including low- and high-expression subgroups, and OA cells were stored in two main clusters. The molecular activity of RA was statistically consistent with its clinical and histological activity. Expression levels of signal transducer and activator of transcription 1 (STAT1), interferon regulatory factor 1 (IRF1), and the chemokines CXCL9, CXCL10, and CCL5 were statistically significantly higher in the synovium of RA than in that of OA. Immunohistochemically, the lining synovium of RA, but not that of OA, clearly expressed STAT1, IRF1, and chemokines, as was seen in microarray analysis combined with LMD.
Conclusions
Our findings indicate an important role for lining synovial cells in the inflammatory and proliferative processes of RA. Further understanding of the local signalling in structural components is important in rheumatology.
doi:10.3109/03009742.2011.623137
PMCID: PMC3400100  PMID: 22401175

Results 1-23 (23)