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Biomedical subjects

T Ohi

Publications and source records attributed to T Ohi.

At least 19 recordsLinked to original sources
PubMed2006

Hypermethylation of CpGs in the promoter of the COL1A1 gene in the aged periodontal ligament.

Although the human periodontal ligament shows age-associated histological alterations, the molecular mechanisms are not yet understood. We previously found that COL1A1 gene expression declines with age. In this study, we asked whether DNA methylation in the regulatory region of the gene alters in the aging process, as a possible cause of the decline. The method used was a bisulfite modification of cytosine and nucleotide sequencing of DNA. While the 1st intron region was kept demethylated at young and old ages, the levels of methylation at most CpG sites in the proximal and distal regions of the promoter showed elevation at older ages. Analysis of the data indicates the possible importance of DNA hypermethylation in the promoter region for the age-associated decrease of COL1A1 gene expression.

Adolescent↗
PubMed2005

Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.

Studies on the clinical course of familial ALS suggest that the duration of illness is relatively consistent for each mutation but variable among the different mutations. The authors analyzed the relative amount of mutant compared with normal SOD1 protein in the erythrocytes from 29 patients with ALS with 22 different mutations. Turnover of mutant SOD1 correlated with a shorter disease survival time.

Adult↗
PubMed2002

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

BACKGROUND: Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, the same region as the hereditary inclusion body myopathy (HIBM) locus. HIBM was originally described as rimmed vacuole myopathy sparing the quadriceps; therefore, the two diseases have been suspected to be allelic. Recently, HIBM was shown to be associated with the mutations in the gene encoding the bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). OBJECTIVE: To determine whether DMRV and HIBM are allelic. METHODS: The GNE gene was sequenced in 34 patients with DMRV. The epimerase activity in lymphocytes from eight DMRV patients was also measured. RESULTS: The authors identified 27 unrelated DMRV patients with homozygous or compound-heterozygous mutations in the GNE gene. DMRV patients had markedly decreased epimerase activity. CONCLUSIONS: DMRV is allelic to HIBM. Various mutations are associated with DMRV in Japan. The loss-of-function mutations in the GNE gene appear to cause DMRV/HIBM.

Alleles↗
PubMed2001

Development of severe longitudinal atrophy of thoracic spinal cord following lupus-related myelitis.

A 26-year-old woman suffered from acute myelitis at Th 6 level associated with systemic lupus erythematosus. Methyl-prednisolone pulse therapy, intravenous high-dose immunoglobulin administration and plasmapheresis were not effective. Her neurological signs had persisted in spite of subsequent administration of oral prednisolone and azathiopurine. Magnetic resonance imaging (MRI) of spinal cord at the onset showed a marked swelling with intramedullary high intensity signals on T2WI along the whole thoracic cord. Three years later, MRI demonstrated a severe longitudinal and segmental atrophy of the mid to low thoracic cord which resulted in transverse spinal signs.

Adult↗
PubMed2001

Bilateral paramedian thalamo-midbrain infarction showing electroencephalographic alpha activity.

A 57-year-old man became unresponsive and mute with bilateral ophthalmoplegia and quadriplegia. Magnetic resonance imaging (MRI) showed bilateral infarctions at the ventral midbrain and the dorsomedial nucleus of the thalamus. Serial studies with MR and vertebral angiography disclosed hypoperfusion and spontaneous reperfusion of the bilateral posterior cerebral arteries at their origin from the basilar artery. Electroencephalographically, a posteriorly distributed alpha rhythm was clearly recorded and it was reactive in response to external stimuli. The findings seen in the present patient suggest that the ventral midbrain and medial dorsal thalamus are not necessary to produce posterior electroencephalographic alpha activity.

Alpha Rhythm↗
PubMed2000

Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.

We identified two novel missense mutations in exon 1 of adrenoleukodystrophy (ALD) gene in two unrelated Japanese families. The first, G(874)C transition results in Arg(163)Pro substitution in the cytoplasmic domain of the ALD protein in adrenomyeloneuropathy family. The second, C(679)G results in Ser(98)Trp substitution in the first transmembrane loop in childhood onset cerebral ALD family. Both mutations cause the substitution of polar amino acid (arginine and serine) with non-polar amino acid (proline and tryptophan). Bone marrow transplantation (BMT) from his non-affected his younger sister was performed on a boy with childhood onset cerebral ALD who showed neurological deficit and brain MRI abnormalities. We evaluated the effect of BMT over a 6-year period in terms of neurological deficit, the level of very-long-chain fatty acids (VLCFA) in plasma and fibroblasts, and brain MRI. After BMT, patient's peripheral white blood cells were replaced by donor's XX ones carrying a normal ALD gene confirmed by in situ hybridization using satellite DNA of the centromere of X and Y chromosomes as probes and the level of VLCFA in lymphocytes was within normal limit. However, his neurological state progressively deteriorated. BMT was not beneficial to him.

Adrenoleukodystrophy↗
PubMed2000

A case of dermatomyositis associated with mechanic's hand.

A 67-year-old man was referred to the Department of Internal Medicine at Tokyo Medical University with interstitial pneumonia in July 1999. He presented with keratotic plaques on both palsm and on the ventral and lateral sides of his fingers. Erythematous keratosis was observed on the dosal aspect of his fingers and metatarsophalangeal (MP) joints. Edematous erythema was seen on the patient's chest, back, and the extensor surfaces of his arms. Electromyography revealed a myogenic pattern and an increased level of myogenic enzymes was found in the blood. Histological findings of the ventral sides of his fingers showed hyperkeratosis and parakeratosis of the dermal tissue and liquefaction degeneration of the basal layer at the papilla. Based on these findings, the patient was given a diagnosis of dermatomyositis associated with mechanic's hand. A systemic examination confirmed interstitial pneumonia and carcinoma of the duodenal papilla. Mechanic's hand is a type of dermatitis associated with myopathy first reported by Stahl et al. in patients with collagen disease. We report herein the first documented case of mechanic's hand in Asians.

Adenocarcinoma↗
PubMed2000

A case of varicella complicated by cellulitis and scarlet fever due to Streptococcus pyogenes.

We report a 4-year-old boy with cellulitis and scarlet fever due to streptococcal infection following the onset of varicella. He developed a painful ulcer and subcutaneous induration on the left shoulder and a small, light-red-colored rash on the trunk at approximately the same time as the development of vesicles over the entire body. Streptococcus pyrogenes was isolated from samples from the posterior intranasal space and the ulcer on the shoulder. The clinical symptoms improved with the administration of antibiotics and intravenous drip infusion, but it took approximately one month from the first visit for the subcutaneous induration to disappear and the ulcer to heal with epithelialization. The complication of secondary streptococcal infection in varicella is relatively rare in Japan, but in Western countries there have been many reported cases of life-threatening necrotizing fasciitis and necrotizing pyomyositis due to secondary streptococcal infection following varicella. Close attention should be paid to streptococcal infection as a complication of varicella.

Cellulitis↗
PubMed2000

Acute myocardial infarction in a patient with anomalous left coronary artery origin and primary antiphospholipid syndrome.

Anomalous left main coronary artery (LMCA) originating from the right coronary sinus and running between the aorta and pulmonary trunk is a rare congenital condition. Although this disease is known to be associated with myocardial infarction and sudden death, the precise mechanism is uncertain. A 14-year-old male with this anomaly developed myocardial infarction during exercise complicated by primary antiphospholipid syndrome. He was admitted to hospital with persistent chest pain and sudden cardiac collapse that occurred while he was running. Cardiac catheterization demonstrated a narrowed segment in the LMCA and impaired blood flow, prompting a diagnosis of extensive anterior myocardial infarction. Emergency bypass surgery was performed using a single saphenous vein graft to the left anterior descending artery. Postoperative angiography showed the presence of an anomalous LMCA arising from the right sinus of Valsalva and running between the great vessels. The aortic samples were pathologically normal. He was discovered to also have primary antiphospholipid syndrome and was discharged without symptoms after warfarin therapy. Complicated primary antiphospholipid syndrome may trigger myocardial infarction in asymptomatic patients with this type of coronary anomaly.

Acute Disease↗
PubMed2000

[A case with symptomatic epilepsy and mirror movement due to unilateral schizencephaly].

Schizencephaly is an extremely rare congenital disease caused by abnormal neuronal migration. The etiology of schizencephaly is not established but vascular disturbance in early childhood could cause this condition. We have cared of a patient with schizencephaly. The patient was 47 year old male. He had focal motor seizure with secondary generalization. Neurological examination revealed, mild left hemiparesis, left pyramidal signs with no sensory impairment, left hemiatrophy, and mirror movement. MRI findings showed schizencephaly, open lip type(type II) in right cerebral hemisphere. His epileptic seizure was controlled by administration of sodium valproate. The possible mechanism of this mirror movement in his left hand and leg could be reorganization of non-affected brain and disinhibition on homolateral pyramidal tract in non-affected left cerebral hemisphere by the transcallosal inhibitory pathyway from affected right cerebral hemisphere. Sodium valpronate can not suppress this mirror movement.

Anticonvulsants↗
PubMed1998

Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry.

Mutations in Cu/Zn superoxide dismutase (SOD1) cause a subset of cases of familial amyotrophic lateral sclerosis (FALS). We established a simple and defined method to detect the mutant SODI in erythrocytes by electrospray ionization mass spectrometry (ESIMS) using materials precipitated with specific antiserum. Hemolysate was mixed with anti-SOD1 antiserum and the generated precipitate, which was soluble in the solvent for MS analysis, was injected on to an LC column connected to an ESI-mass spectrometer. MS spectra of the reduced SOD1 prepared from normal individuals showed ion peaks corresponding to free monomer SOD1. The spectra from FALS patients revealed doublet ion peaks corresponding to normal and mutant components. The ratios of mutant to normal SOD1 were about 1/2 in cases of (G37R) and (A4S), and about 0.15 in a case of (H46R). This method provides for the rapid diagnosis using small amount of specimens, and will contribute to elucidate the pathomechanism of FALS through the quantification of SOD1 mutants in erythrocytes and in tissues of nervous systems.

Amino Acid Substitution↗
PubMed1998

Therapeutic effects of aldose reductase inhibitor on experimental diabetic neuropathy through synthesis/secretion of nerve growth factor.

We investigated alterations in nerve growth factor (NGF) and ciliary neurotrophic factor (CNTF) contents during treatment with epalrestat, an aldose reductase inhibitor (ARI), on streptozotocin (STZ)-induced diabetic neuropathy in rats. Diabetic rats showed a statistically significant reduction in H-wave-related sensory nerve conduction velocity (HSNCV) and in NGF content in sciatic nerves during the experiment of 8 weeks. No reduction in the CNTF content in sciatic nerves was seen in the diabetic rats. The epalrestat treatment, which started 4 weeks after STZ injection, resulted in a significantly greater NGF content and faster HSNCV than those in untreated diabetic rats. But no statistically significant alterations of motor nerve conduction velocity (MNCV) or CNTF content were seen during the treatment. ARI showed the stimulating effect for NGF synthesis/secretion in rat Schwann cell culture in vitro. These findings suggest that decreased levels of NGF in diabetic sciatic nerves may be involved in the pathogenesis of diabetic neuropathy in these rats and further show that epalrestat treatment can be useful for the treatment of diabetic neuropathy through NGF-induction in Schwann cells and/or inhibition of the polyol pathway.

Aldehyde Reductase↗
PubMed1998

Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

BACKGROUND: Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperparathyroidism. MEN 2 is caused predominantly by germ-line mutations of the RET proto-oncogene. This study aimed to clarify the genotype-phenotype correlation in MEN 2 patients in Japan in order to modify the clinical management according to the genotype. METHODS: Constitutive DNA of 64 MEN 2 patients (48 kindreds) were searched for mutations at exons 10, 11, 13, 14 and 16 of the RET proto-oncogene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), direct sequencing and restriction enzyme digestion. The clinical characteristics of the patients were obtained from a previous nationwide questionnaire survey. RESULTS: Overall, 62 (96.9%) out of 64 patients had a germ-line point mutation at the hot spots. MTC and pheochromocytoma occurred equally in every genotype except C630S. Specific genotype had a correlation between tumor size and age at the operation for MTC or extent of MTC, i.e. C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. Small MTC in C634R may be less aggressive than those in C634Y and M918T. CONCLUSIONS: DNA testing has good clinical implications for the management of patients with MEN 2 and the timing and operative procedures of thyroidectomy can be modified according to the genotype.

Adrenal Gland Neoplasms↗
PubMed1998

Cervical spinal epidural abscess following acupuncture: successful treatment with antibiotics.

A 67-year-old man with poorly controlled diabetes mellitus (DM) had acupuncture several times a month for chronic shoulder muscle stiffness. A few days after acupuncture in the posterior nuchal region, a low-grade fever and backache developed, and subacutely progressed. Finally he complained of gait disturbance, and then respiratory distress appeared. Magnetic resonance imaging (MRI) demonstrated high cervical epidural abscess with massive soft tissue inflammation and vertebral osteomyelitis. Conservative treatment with antibiotics was effective and it was well documented by following serial MRIs. This case suggested that needle acupuncture should be avoided for immunocompromised subjects such as patients with poorly controlled DM.

Abscess↗
PubMed1998

[Clinical and neuroradiological evaluation of the long-term surviving siblings of Sanfilippo syndrome A type].

The siblings of Sanfilippo syndrome type A (MPS III A) have been reported. The relationship of their parents was the first cousins. Case 1: A 30-year-old Japanese man was hospitalized because of gait disturbance and mental impairment. His early somatic and mental development was normal until 9 years of age when mental deterioration had developed. Speech and gait disturbances and double incontinence occurred at 18 years of age. He could not walk at 21 years of age. Those symptoms were slowly progressive. Case 2: A 32-year-old Japanese man, the elder brother of case 1, had a similar clinical history to that of case 1. Their neurological findings revealed mental impairment, coarse face, positive forced grasp and sucking reflexes, and pyramidal signs. Lumbar X-ray showed platyspondylitis, compression fracture of L 1 and osteoporotic changes. Brain MRI of both cases showed brain atrophy, ventricular dilatation and abnormal high intensity signals near the posterior horn of the lateral ventricles on T2 weighted image. Low perfusion images of fronto-parietal regions were seen in the early phase of SPECT using 123I-IMP. This siblings were diagnosed as Sanfilippo syndrome type A because of heparan sulfaturia and deficiency of heparan sulfate sulfamidase of the lymphocytes. Average life span of Sanfilippo syndrome type A is not so long but the age of our cases is over 30 years of age.

Adult↗
PubMed1998

[An abnormality of facial nerve conduction velocity distribution (FNCVD) in Bell's palsy patients].

We studied bilateral facial nerve conduction velocity distribution (FNCVD) of 8 Bell's palsy patients in their paretic and recovered state and unilateral FNCVD of 13 normal control using collision method. Dual supramaximal stimuli were adapted to marginalis mandibulae branch of facial nerve and compound muscle action potential (CMAP) was recorded from the surface of mentalis muscles. Peak of FNCVD in normal control was present at 22-23 m/sec. In Bell's palsy patients, there was no significant change in FNCVD either at paretic or recovery state. Peak of involved side FNCVD of Bell's palsy patient was almost normal but its amplitude was low. However, in healthy side of Bell's palsy patient, peak of FNCVD was present at 18-19 m/sec. This finding shows that facial nerve diameter distribution in the healthy side of Bell's palsy patient has smaller peak than that of normal control.

Action Potentials↗
PubMed1998

[A case of acute polyradiculoneuritis with multiple cranial nerve palsy and cerebral lesion--possible evidence of encephalo-myelo-radiculo-neuropathy].

We report a case of acute polyradiculoneuritis with multiple cranial nerve palsy and cerebral lesions. A boy, born on July 26, 1987, developed unusual sensation on the extremities, backache and sleep disturbance on June 23, 1996. On July 2, following a complaint of blindness he developed a convulsion and was admitted to our hospital. Neurological examination revealed intact consciousness, severe external ophthalmoplegia, bifacial palsy and generalized areflexia. On the next day, flaccid tetraplegia and respiratory dysfunction developed and progressed without disturbance of consciousness. After tracheal intubation he was under mechanical ventilation. A lumbar puncture examination showed clear CSF with increased protein 166 mg/dl. no cells and normal myelin basic protein. Serum antibodies against gangliosides (GM1, asialo-GM1, GD1b and GQ1b) were not detected. A posterior tibial nerve conduction velocity was mildly delayed with disappearance of F- wave. On the other hand, very slow background activity was shown by EEG, extensive focal hypoperfusion of cerebral blood flow by SPECT and supratentorial multiple high intensity lesions by T2 weighted MRI of the brain. There were no abnormal signals in the brainstem and cerebellum on MRI. His condition dramatically improved after plasmapheresis. The abnormal findings of SPECT and MRI promptly disappeared within 3 weeks, although abnormal signs on EEG persisted. He was successfully weaned off the respirator and recovered strength of the limbs. He was discharged on August 28, 1996, with supported walk and bifacial palsy, then he completely recovered by 7 months. The condition of case was compatible with 'encephalo-myelo-radiculo-neuropathy', a disease entity that had previously been reported in a few patients in whom with Guillain-Barré or Fisher syndrome and cerebral symptoms co-existed.

Acute Disease↗