Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
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Chromosomal Proteins, Non-Histone↗
Biomedical subjects
I Horiuchi
Publications and source records attributed to I Horiuchi.
Acute myelitis after asthma attacks with onset after puberty.
A poliomyelitis-like illness after asthma attacks has been found and is called asthmatic amyotrophy (Hopkins' syndrome). All of the previously reported cases were under 13 years of age. Three patients are described who developed acute myelitis after asthma attacks at 15, 22, and 73 years of age. All of them showed acute flaccid monoparesis, and needle EMG disclosed denervation potentials in the relevant muscles. In addition, in the two adult patients the sensory or pyramidal tracts were involved, and evoked potential studies confirmed an involvement of the pyramidal tracts in one of them. This 22 year old patient showed a second episode of monoparesis in the other limb after another asthma attack. All three patients had no significant changes in their antiviral antibody titres, whereas every patient had hyperIgEaemia and allergen specific IgE. These findings suggest that asthmatic amyotrophy can develop after puberty and that patients who develop this disease in adulthood seem to show both a widespread involvement of the spinal cord and a more varied course.
Acute Disease↗
Hyperprolactinemia in optico-spinal multiple sclerosis.
OBJECTIVE: To clarify the clinical features of MS patients with hyperprolactinemia. SUBJECTS AND METHODS: The serum prolactin level was measured in 67 Japanese patients (19 men and 48 women) with multiple sclerosis (MS) and in 16 patients (4 men and 12 women) with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) using a two-site immunoradiometric assay. RESULTS: In the MS patients, 32 were classified as having Asian type MS showing a selective involvement of the optic nerves and spinal cord, while the other 35 were classified as having Western type MS which displayed disseminated central nervous system involvement. In women, the serum prolactin level was found to be significantly higher only in Asian type MS (mean=23.1 ng/ml, n=25) than in HAM/TSP (mean=6.9 ng/ml, n=12) (p=0.0297), while it did not differ significantly in men among the three groups. Hyperprolactinemia was significantly associated with acute relapse involving the optic nerves. All MS patients with hyperprolactinemia (7 women with Asian type MS and 2 women with Western type MS) showed recurrent opticomyelitis either throughout or in the early course of the disease, and also had a higher age of onset, a higher Expanded Disability Status Scale score, a greater visual impairment, and higher cell counts and protein contents in the cerebrospinal fluid than did the normoprolactinemic patients. CONCLUSION: Hyperprolactinemia may be one of the characteristic features of Asian patients with MS who preferentially show the optic nerve involvement.
Adult↗
Heightened IgE response to mite antigens in inflammatory neuropathies.
In order to clarify the IgE response to common environmental antigens, we measured the serum total IgE and allergen-specific IgE in 50 patients with Guillain-Barré syndrome (GBS), nine patients with Fisher syndrome (FS), 14 patients with chronic inflammatory demyelinating polyneuropathy (CIDP), 18 patients with mononeuritis multiplex (MNM), 43 patients with neurodegenerative disorders and 82 healthy controls by ELISA. The total IgE level was significantly higher in patients with GBS (median = 135 U/ml, P<0.05), CIDP (median = 175 U/ml, P<0.05) and MNM (median= 199 U/ml, P<0.05), than in the healthy controls (median = 79 U/ml), but not in those patients with neurodegenerative disorders. The specific IgE to Dermatophagoides pteronyssinus was significantly higher in the patients with GBS (56%, P<0.01) and MNM (72%, P<0.005) than in the healthy controls (32%). The level of specific IgE to Dermatophagoides farinae tended to be higher in the patients with GBS than in the healthy controls (0.05<P<0.1). The patients with CIDP and MNM also showed a similar increase in the frequency of mite antigen-specific IgE. As a result, the heightened IgE responses to mite antigens may therefore in part be related to the mechanism of inflammatory neuropathies. On the other hand, such heightened IgE responses in these inflammatory neuropathies may be a reflection of Th2 cell overactivity, which may induce an intense synthesis of autoantibodies against the peripheral nerves.
Adolescent↗
Changes in the clinical phenotypes of multiple sclerosis during the past 50 years in Japan.
In order to clarify whether or not marked changes in the social environment during the past 50 years in Japan may have altered the clinical phenotypes of multiple sclerosis (MS), we retrospectively analyzed 143 consecutive patients with clinically definite MS who developed the disease between 1950 and 1997. Fifty-two patients were classified as Asian type MS showing a selective involvement of the optic nerves and the spinal cord, while 91 patients were considered to have Western type MS which demonstrated the involvement of multiple sites in the central nervous system including the cerebrum, cerebellum and brainstem. The ratio of Asian type versus Western type MS was 1:0.5 in the patients born in the 1920s and 1:1.27, 1:1.64 and 1:1.7 in those born in the 1930s, 1940s and 1950s, respectively, and thereafter it increased to 1:4.67 in those born in the 1960s and 1:4 in those born after the 1970s. As a result, the proportion of Asian type MS significantly decreased in the patients born after 1960 as compared with those born from 1930 to 1959 (P=0.0121). In the Asian type MS, the age of onset was significantly higher in the patients who developed the disease from 1985 to 1997 (42.4+/-13.5 years) than in those who developed the disease from 1950 to 1984 (32.3+/-12.4 years) (P=0.0149), while in the Western type MS no such change in the age of onset was observed. These findings suggest that the frequency of Asian type MS has apparently decreased in younger Japanese born after 1960 when Japan's rapid economic growth had just started, and environmental factors are therefore considered to contribute to determine the clinical phenotypes of MS in Asians.
Adult↗
Clinical, immunological and MRI features of myelitis with atopic dermatitis (atopic myelitis).
In order to clarify the characteristic features of myelitis with atopic dermatitis (AD), we compared the clinical, immunological and MRI findings between 14 myelitic patients with AD and 12 myelitic patients without AD. The myelitic patients with AD showed the following distinct features, compared with those without AD. (1) A preferential involvement of the cervical cord, as shown by neurologic as well as MRI examinations (14/14 vs. 5/12; P=0.0012), (2) paresthesia/dysesthesia as the predominant symptoms and a rare occurrence of definite muscle weakness (0/14 vs. 5/12; P=0.0120) and dysuria (1/14 vs. 8/12; P=0.0029), (3) a lower Expanded Disability Status Scale score (mean, 1.5 vs. 3.5; P=0.0018), (4) normal cerebrospinal fluid (CSF) findings including those for the IgG index and oligoclonal IgG bands and (5) a persistence of neurologic symptoms and MRI lesions during the follow-up periods (mean, 17 months). In addition, both the serum total IgE level and the frequency of specific IgE to Dermatophagoides farinae were significantly higher in the myelitic patients with AD (median IgE=1266 U/ml, specific IgE 14/14) than in those without AD (145 U/ml, P=0.0034 and 8/12, P=0.0331, respectively) and in 40 healthy controls (86 U/ml, P<0.0001 and 12/40, P<0.0001, respectively). Since myelitis with AD has distinct features and atopy to mite antigens appears to be the underlying cause of this condition, it may therefore be a distinct subtype of myelitis.
Acute Disease↗
Serial MRI of cerebral infarcts before and after removal of an atrial myxoma.
We describe a cerebral infarct caused by atrial myxoma. A 30-year-old woman with an atrial myxoma presented with a right hemisensory deficit. MRI carried out before and after removal of the myxoma, showed multiple small bilateral white-matter infarcts which increased in number up to the surgery. A lesion in the left thalamus, which enlarged and showed contrast enhancement 4 months before surgery, resembled an old cerebral infarct by the time the myxoma was removed. The number of lesions stopped increasing after surgery. We suggest that atrial myxomas should be removed even in asymptomatic patients, to prevent cerebral infarcts due to embolism of tumour or thrombus.
Adult↗
HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies.
In order to clarify the relationship between the clinical phenotype and the human leucocyte antigen (HLA) in multiple sclerosis in Asians, 93 Japanese patients with clinically definite multiple sclerosis underwent clinical MRI and HLA-DPB1 gene typing studies. According to a neurological examination, 29 patients were classified as opticospinal multiple sclerosis, 17 as spinal multiple sclerosis and 47 as Western type multiple sclerosis showing the involvement of multiple sites in the CNS including either the cerebrum, cerebellum or brainstem. The opticospinal multiple sclerosis showed a significantly higher age of onset, higher expanded disability status scale scores and higher CSF cell counts and protein content than the Western type multiple sclerosis. On brain and spinal cord MRI, the opticospinal multiple sclerosis showed a significantly lower number of brain lesions, but a higher frequency of gadolinium-enhancement of the optic nerve and a higher frequency of spinal cord atrophy than in Western type multiple sclerosis. The frequency of the HLA-DPB1*0501 allele was found to be significantly greater in opticospinal multiple sclerosis (93%) than in healthy controls (63%, corrected P value = 0.0091 and relative risk = 7.9), but not in Western type multiple sclerosis (66%) or spinal multiple sclerosis (82%). The marked differences in the clinical and MRI findings as well as in the immunogenetic backgrounds between the opticospinal multiple sclerosis and Western-type multiple sclerosis together suggest that HLA-DPB1*0501-associated opticospinal multiple sclerosis is a distinct subtype of multiple sclerosis.
Adult↗
[A case of multiple sclerosis with abnormal single photon emission computed tomography (SPECT)].
A case of a 38-year-old woman with multiple sclerosis (MS) is reported. At 36 years of the age, she was admitted to our hospital because of developing unstable gait and clumsiness in her hands. After intravenous and oral administration of steroid, her neurological symptoms improved gradually. At 38 years of the age, she was readmitted because of recurrence. A neurological examination revealed severe left sided limb ataxia and trunkal ataxia. No abnormal finding was demonstrated in cranial MRI at the first and second admission. Single photon emission computed tomography (SPECT) using 123I-IMP that was performed at the second admission showed an increased accumulation of 123I-IMP in the left cerebellar hemisphere on the 14th day from the neurological onset. After the therapy of steroid, her neurological signs improved and SPECT showed no abnormality on the 62nd day. Seven months after the second episode, she was readmitted because of the same neurological symptoms and T2 weighted MRI revealed multiple high intensity area in the pons and midbrain. She was diagnosed as having definite MS. These findings in SPECT may suggest the inflammatory process of the cerebellum in the case of MS as well as acute cerebellar ataxia.
Adult↗
HLA-DP-associated susceptibility to the optico-spinal form of multiple sclerosis in the Japanese.
We studied polymorphism of the HLA-DP gene in 46 patients with optico-spinal form (Asian type) multiple sclerosis (MS) showing recurrent opticomyelitis and 46 patients with Western type MS with disseminated central nervous system involvement. We previously reported a significant association between an HLA-DRB1 *1501-DRB5*0101 haplotype and susceptibility to Western type but not Asian type MS. In the present study, we found that the frequencies of DPA1 *0202 and DPB1 *0501 alleles were significantly increased in patients with Asian type MS, as compared with findings in 92 healthy control subjects (91.3% vs 65.2%, P(corr)<0.05 and 89.1% vs 63.0%, P(corr)<0.05 respectively), but not in Western type MS. Our data provide further evidence that Asian and Western type MS are distinct regarding the immunogenetic background.
Alleles↗
Direct assessment of triploid cells in mosaic human fetuses by fluorescence in-situ hybridization.
Villous tissues from 30 spontaneous abortions and the same number of artificial abortions were obtained and analysed for the frequency of polyploid cells. Single cell suspensions were made from these tissues without culture and the ploidy of > 100 cells was analysed. Trisomies of chromosomes 17 and 4 have rarely been reported in villous cells of spontaneous abortions, suggesting that the presence of more than three copies of chromosomes 17 and 4 per cell indicates polyploidy. The number of chromosomes 17 and 4 was detected by fluorescence in-situ hybridization analysis using centromeric probes D17Z1 and D4Z1. Most villous cells from cases of spontaneous and artificial abortions had two D17Z1 or D4Z1 signals per cell, with very small percentages of cells (0.5 +/- 0.4%) showing three signals per cell. However, in four cases of spontaneous abortions, 2-12% of cells had three D17Z1 or D4Z1 signals per cell. This indicates the presence of triploid cells in these cases of spontaneous abortion, at a significantly higher frequency compared to artificial or the remaining 26 cases of spontaneous abortion. In addition, three cases contained 0.2-0.4% of cells showing six signals, indicating that these cells were dividing triploid cells. The low frequency of mosaicism reported here would not be detectable by conventional chromosomal analysis.
Abortion, Induced↗
Cerebral blood flow velocity in handicapped children.
Using a transcranial Doppler blood flowmeter, the blood flow velocity (BFV) ratio of the middle cerebral artery (MCA) to the basilar artery (BA) was investigated in 12 patients with severe motor and intellectual disability syndrome. The BFV of the MCA was also investigated in 58 handicapped children, classified according to the severity of their motor and intellectual disability. The ratio of the MCA to the BA was lower by 2 SD from the mean of our previously reported standard value in 8 out of the 12 cases with severe motor and intellectual disability syndrome, suggesting a more profound decrease in the level of brain activity in the MCA area than that of the BA area. The BFV of the MCA mainly decreased in cases belonging to the category of the most severe motor disability (bed-ridden). Hence, it is suggested that motor disability is the main factor related to the decrease in the BFV of the MCA.
Blood Flow Velocity↗
[A case of severe involvement of the motor neuron system accompanied with cerebellar ataxia].
Here we report a sporadic case of severe involvement of the motor neuron system accompanied with cerebellar ataxia. A 55-year-old Japanese woman was admitted to our hospital because of unstable gait and clumsiness of hands. Since she had prominent ataxia, she was initially diagnosed as late onset cortical cerebellar atrophy (LCCA). However, mild muscular weakness and atrophy were pointed out. Weakness in extremities progressed slowly and she became unable to walk in two years. On the second admission, in addition to cerebellar ataxia, she had moderate to severe muscular weakness and atrophy with fasciculation in extremities. Although she had no sensory impairment, micturitional disturbance nor orthostatic hypotension, she had impaired skin sweating response. MRI imaging revealed moderate cerebellar and brain stem atrophy. Neurophysiological examination revealed upper and lower motor neuron damage. Beta-D-N acetylglucosaminidase activity was normal and SCA1, DRPLA and Machado-Joseph disease were excluded by DNA studies. Combination of motor neuron disease and cerebellar degeneration has been very rare. Only two cases similar to our case were reported before. Our patient had anti GM1-ganglioside antibody in her serum, suggesting that motor neuron disease and cerebellar degeneration may occur with the same pathophysiological mechanism.
Cerebellar Ataxia↗
[A case report of alternating abducens hemiplegia with special reference to the supranuclear pathway to the facial nucleus].
A case of alternating abducens hemiplegia was reported. A 16-year-old girl developed alternating hemiplegia characterized by the left abducens nerve palsy and right hemiparesis. In addition, she had right supranuclear facial nerve palsy. A brain MRI showed left mid to lower pontine lesion and vertebral angiography revealed medullary venous malformation in the left pons. SEP with right posterior tibial nerve stimulation showed a delayed central conduction time, suggesting that the lesion involved left medial lemniscus. We previously reported a 39-year-old man who developed pure alternating abducens hemiplegia. He did not show supranuclear facial nerve palsy or SEP abnormality. These findings support the idea that the supranuclear facial nerve fiber leaves the pyramidal tract at the upper to middle pons and descends in the area of the pontine tegmentum around the medial lemniscus.
Abducens Nerve↗
Developmental and physiologic changes in cerebral blood flow velocity.
Developmental change of mean blood flow velocity (MBFV) and resistance index of the basilar artery (BA), as well as the changes in MBFV of the BA and the middle cerebral artery (MCA) during sleep and hyperventilation, were studied using transcranial Doppler sonography in healthy Japanese subjects. The MBFV of the BA increased with age from infancy through early childhood, reaching the maximum (64.4 +/- 2.6 cm/s) at the age of 5 y, and then gradually decreased. MBFV ratio of MCA to BA was almost stable between 1.57 to 1.64 in all age groups. The resistance index of the BA showed a maximum value in infants, decreased in 1- to 2-y-olds, and remained constant thereafter. The MBFV of both the MCA and BA were lower during non-rapid eye movement sleep than during wakefulness, whereas during rapid eye movement sleep they showed almost the same value as during wakefulness. They were also decreased during hyperventilation. At an expiratory CO2 level of 25 mm Hg (33.33 kPa), the average decrease in MBFV in children (n = 10) was -50.1 +/- 3.9% in the BA, and -46.2 +/- 7.4% in the MCA, significantly (p < 0.05) more marked than that in adults (n = 10) (-41.5 +/- 5.9% and -37.9 +/- 4.2%, respectively). Transcranial Doppler sonography is a noninvasive method that has a potentially wide range of applications in pediatric neurology.
Adolescent↗
[Bronchospasms caused by intravenous hydrocortisone sodium hemisuccinate (Solu-Cortef) in an aspirin-sensitive asthmatic patient].
This is a report of a male patient who had an anaphylaxia-like reaction to hydrocortisone sodium hemisuccinate (Solu-Cortef). A 32-year-old male with aspirin sensitivity was treated for moderate wheezing with 200 mg Solu-Cortef given intravenously. After this treatment, his condition deteriorated acutely and he was admitted to our hospital. Intradermal skin tests revealed positive immediate reactions to Solu-Cortef, Saxizon, Solu-Medrol and Predonine. Challenge tests with 100 mg Solu-Cortef and Saxizon injection showed 34% and 27% decrease, respectively in FEV1 15 min after injection. These results suggest that succinylation of steroids resulted in allergic reaction to steroids in this patient.
Adult↗
Effects of pravastatin (CS-514) on biliary lipid metabolism in patients with hyperlipidemia.
Pravastatin was administered to 20 patients with hyperlipidemia type IIa and IIb, for a period of 8 to 16 weeks at a daily dose of 10 to 20 mg, to investigate the effects on serum and biliary lipids. At the end of the treatment with pravastatin, the serum cholesterol level was significantly reduced, by 20%, compared with the control level. On the other hand, no significant differences were observed in serum high-density lipoprotein (HDL) cholesterol and triglyceride levels. Additionally, the administration of pravastatin did not change mode % compositions of biliary lipids, such as cholesterol, phospholipids, and total bile acids, as well as individual biliary bile acids. Consequently, there was not any significant change of the cholesterol saturation index. Based on the above results, our findings suggest that, for the treatment of hyperlipidemia, pravastatin is a highly effective cholesterol-lowering drug that does not affect biliary lipid metabolism.
Adult↗
Relation of cerebral blood flow in patients with various types of childhood epilepsy.
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Blood Flow Velocity↗