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Biomedical subjects

N Tachi

Publications and source records attributed to N Tachi.

At least 73 records · Page 4Linked to original sources
PubMed1995

Muscle involvement in congenital insensitivity to pain with anhidrosis.

A patient with congenital insensitivity to pain with anhidrosis, who had characteristic clinical features and biopsied sural nerve, is presented. Nerve pathology findings indicated a loss of the small myelinated and unmyelinated fibers. Biopsied muscle disclosed a marked variation in fiber size, some small fibers with central nuclei, and a small number of small angulated fibers, consistent with neurogenic and myogenic changes. Many patients with congenital insensitivity to pain with anhidrosis had muscle weakness and absent or decreased deep tendon reflexes with normal nerve conduction velocity. We confirmed that lack of small myelinated fibers in motor neurons resulted in a striking change of muscle in our patient.

Biopsy↗
PubMed1995

[Anterior chamber inflammation after vitrectomy in posterior vitreous membrane syndrome and phacoemulsification and intraocular lens implantation].

We studied the anterior chamber inflammation with a laser flaremeter after transvitreal membrane peeling surgery for posterior vitreous membrane syndrome and cataract intraocular lens surgery, through separate surgery and combined surgery. In 16 eyes with vitrectomy and membrane peeling, mean flare count had one peak of 11 photons/msec at postoperative days 5 through 7. In 10 eyes with phacoemulsification and aspiration with posterior chamber lens implantation, the mean flare count had two peaks of 11 photons/msec at postoperative day 1 and in postoperative week 2. In 25 eyes with combined surgery of vitrectomy and cataract intraocular lens surgery, the mean flare count was similar to the summation of that of each simple surgery. In these 25 eyes, in 9 eyes with sutures, the mean flare count had two peaks of 37 photons/msec at postoperative day 1 and 27 photons/msec at postoperative week 2, and in 16 eyes with self sealing wounds, the mean flare count had one peak of 22 photons/msec at postoperative week two. In 14 vitrectomized eyes with cataract-intraocular lens surgery, the mean flare count was as high as in combined surgery. In eyes with self sealing wounds, the flare count at postoperative day one was significantly lower than that of sutured eyes.

Adult↗
PubMed1994

Expression of P0 protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III.

We present expression of Po protein and Po mRNA on the sural nerve of a patient with hereditary motor and sensory neuropathy type III. This patient was identified with a point mutation in Po gene, which resulted in the substitution of glycine for arginine in transmembrane domain of P0 protein. An electron microscopic examination revealed very thin myelinated fibers surrounded by multilamellated onion bulbs composed with greatly proliferated Schwann cells. An immunocytochemical and immunoblot analysis is showed P0 protein normally expressed in myelin on the sural nerve. By in situ hybridization, mRNA of P0 protein was detected at normal levels in Schwann cell cytoplasm. Those observations indicated that there was no truncated myelin P0 protein in peripheral nerve of this patient.

Adolescent↗
PubMed1993

Epstein-Barr virus genomic sequences and specific antibodies in cerebrospinal fluid in children with neurologic complications of acute and reactivated EBV infections.

Four children with infectious mononucleosis (IM) and one with reactivated Epstein-Barr virus (EBV) infection had concomitant central nervous system disorders. Cerebrospinal fluid (CSF) samples from all five patients contained EBV genomic sequences and EBV-specific antibodies in the neurologic stage, but not during convalescence. Cerebrospinal fluid from two non-neurologic IM patients had neither EBV DNA nor EBV antibodies. The EBV-positive CSF of the five with neurological disorders were aseptic in culture and all negative for other human herpesvirus DNAs and antibodies: herpes simplex virus types 1 and 2, cytomegalovirus, varicella-zoster virus, and human herpesvirus 6. Epstein-Barr virus DNA and EBV antibodies were not detected in the CSF of 17 EBV-seropositive patients with mumps meningitis, rubella encephalitis, unknown febrile convulsion, or partial epilepsy. It is suggested that EBV plays a causal role in neurologic manifestations in patients with acute and reactivated EBV infections, through direct viral invasion and immunopathological reactions.

Acute Disease↗
PubMed1993

Unstable DNA in a patient with a severe form of congenital myotonic dystrophy.

Recently, an unstable DNA (expanded CTG repeat) was identified as the mutation that causes myotonic dystrophy (DM). By Southern blot analysis of DNA derived from peripheral blood, patients with congenital form of DM are shown to have greater expansion of DM specific band than is seen in the analyses of adult form of DM. We present here tissue expression of unstable DNA in an autopsied case of severe congenital form of DM. Our study revealed the largest expanding band of 19 kb was uniformly seen in various tissues from an autopsied infant with congenital form of DM.

Adult↗
PubMed1993

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

We have investigated the myelin P0 gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine substitution for glycine 167 in the transmembrane domain. The patients were genetically heterozygous for the normal allele and the mutant allele, which was absent in their parents and in one hundred unrelated, healthy controls. The results strongly suggest that a de novo dominant mutation of the P0 gene is responsible for at least some sporadic cases of Dejerine-Sottas disease.

Adolescent↗
PubMed1993

Asymptomatic Becker muscular dystrophy: histological changes in biopsied muscles.

The histological changes observed in consecutive tests of biopsied muscles from an asymptomatic patient with Becker muscular dystrophy (BMD) are reported. The first biopsy showed active muscle necrosis and clustered regenerating fibers. The second biopsy revealed chronic myopathic changes mixed with neurogenic involvement. It is stressed that active myogenic changes observed in younger and asymptomatic BMD patients were followed by chronic myogenic or neurogenic change with age. Finally, we confirm the necessity of checking for dystrophin of abnormal size or reduced abundance by immunoblot analysis.

Adolescent↗
PubMed1993

[A case of multiple sclerosis associated with chronic inflammatory demyelinating polyradiculoneuropathy].

We report a 19-year-old girl with multiple sclerosis (MS) who had chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). At the age of 9 (1981), she was diagnosed as having Devic disease, including optic neuritis and transverse myelitis. For two years after the onset of the disease, she suffered from three relapses of MS and was treated with prednisone. At the age of 11, she noticed muscle weakness and sensory disturbance of four limbs. On examination, all tendon reflexes were absent, CSF protein was elevated, and motor nerve conduction velocity of the ulnar nerves was markedly slowed. Sural nerve biopsy showed decreased density of myelinated fibers and de-re-myelinated fibers with onion-bulb formations. Between 11 and 19 years, she had a number of episodes of the central nervous system (CNS) and peripheral nervous system (PNS) deficits with partial or complete recovery by oral administration of prednisone. The clinical course and laboratory data are consistent with MS associated with CIDP. Such our case of MS with CIDP in childhood is very rare. Patients with MS and CIDP may represent a subpopulation who had a common pathogenetic factor for both CNS and PNS demyelination.

Adult↗
PubMed1993

[HTLV-I associated myelopathy with macular degeneration].

The authors report a case of macular involvement in a patient with HTLV-I associated myelopathy (HAM). The patient was a 10-year-old girl who noticed sudden decreased vision in her right eye in November 1987. The corrected visual acuity was 0.01 in the right eye and 1.0 in the left eye. Fundus examination of the right eye disclosed mild optic disc pallor. The macula appeared to have pigmentary mottling with superficial irregular retinal reflex that was three disc diameters in size. Fluorescein angiography revealed a discoid hypofluorescent area in the macula, surrounded by mottled hyperfluorescent areas. She had no contributory family history of ocular disease, but had a history of blood transfusion during an operation for patent ductus arteriosus and ventricular septal defect at the age of 8 months. In November 1990, she developed gait disturbance due to spastic paraparesis and was admitted to our hospital. Antibodies to HTLV-I were markedly elevated in serum (titer, 1:8192) and in cerebrospinal fluid (titer, 1: 1024). She was diagnosed as HAM. Two months later, she developed encephalopathy and bilateral optic disc atrophy.

Child↗
PubMed1992

Delayed expression of dystrophin on regenerating muscle from two siblings with Becker muscular dystrophy.

We present here a unique expression of dystrophin on biopsied muscle from 2 siblings with Becker muscular dystrophy (BMD). They had neither muscle weakness nor atrophy. Clustered dystrophin-deficient fibers were constituted to regenerating basophilic fibers (mainly type 2C fiber) based on histochemical stainings. We speculate that the developmental delay in the expression of dystrophin is a characteristic finding in regenerating fibers from asymptomatic and young BMD patients, such as the siblings in this report.

Child↗
PubMed1992

Demyelinating peripheral neuropathy in Cockayne syndrome: a histopathologic and morphometric study.

The clinical and histopathological features of Cockayne syndrome in a 2-year-old girl are reported. Sural nerve biopsy revealed segmental demyelination and remyelination. The density of myelinated fibers, especially small ones, was decreased in comparison with an age-matched control. Although the total number of unmyelinated fibers showed no difference from that in the control, the number of small unmyelinated fibers was slightly increased. A study of teased fibers from the patient's nerve revealed that 1% of the fibers had segmental demyelination, and 7% showed remyelination. Ultrastructurally, demyelinated fibers were present sporadically. No degeneration of axons was evident. Our pathological and morphometric data for the sural nerve suggest the presence of primary demyelination in early childhood.

Child, Preschool↗
PubMed1992

Allelic heterogeneity in group A xeroderma pigmentosum.

The molecular basis of Group A xeroderma pigmentosum was investigated by restriction fragment length polymorphism analysis of PCR-amplified DNA sequences using the two restriction enzymes, endonucleases AlwN I and Hph I. The clones of a patient with Group A xeroderma pigmentosum who had typical symptoms showed a G-C substitution at the 3' splice acceptor site of intron 3. However, of the two atypical Group A xeroderma pigmentosum patients with mild skin lesions and minimal neurological abnormalities, the milder one showed homozygosity for the nonsense mutation of exon 6, while the other patient with slightly greater central nervous involvement was shown to be a compound heterozygote for the splicing mutation of intron 3 and the nonsense mutation of exon 6, thus indicating an allelic heterogeneity in group A xeroderma pigmentosum.

Adolescent↗
PubMed1992

[Ataxic cerebral palsy and brain imaging].

Five cases diagnosed as having ataxic cerebral palsy were presented with their brain imaging. Case 1, a 3-year-old-girl had been floppy since 7 months of age and began ataxic walk with spastic legs from 18 months of age. MRI revealed generalized atrophy of cerebellum (especially in anterior superior part) and slight atrophy of pons. Her mother also had ataxia with spastic legs of early onset. She and her mother were thought to have an early-onset inherited non-progressive cerebellar ataxia syndrome. Case 2, a 8-year-old-girl had ataxic walk since 17 months of age. MRI revealed cerebellar atrophy especially in anterior superior part. Case 3, a 10-year-old boy was floppy since 4 months of age and suspected as ataxic at 4 years of age. He could walk only with cruches. He had dwarfism and cataracts since 4 years of age. CT and MRI revealed generalized spino-ponto-cerebellar atrophy. Final diagnosis was Marinesco-Sjörgren syndrome. Case 4, a 10-year-old girl had opisthotonus and floppiness since 4 months of age. She could walk only with cruches. CT and MRI revealed generalized spino-ponto-cerebellar atrophy. Case 5, a 8-year-old boy showed head nodding and nystagmus since 4 months of age. He started ataxic gait at 8 years of age. He could vocalize only single sound for speech. MRI revealed cranium bifida and agenesis of anterior medullar velum. Ataxic cerebral palsy is the term often used to describe very different conditions, the clinical picture starts as hypotonia and changes into the ataxic symptoms in a few years.(ABSTRACT TRUNCATED AT 250 WORDS)

Ataxia↗