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Biomedical subjects

N Tachi

Publications and source records attributed to N Tachi.

At least 109 records · Page 6Linked to original sources
PubMed1986

A case of brainstem encephalitis with CT scan abnormality mimicking Fisher syndrome.

A 7-year-old boy with brainstem encephalitis is described. He was drowsy in the acute phase. CSF showed pleocytosis without elevated protein. EEG showed diffuse slow wave activity during wakefulness. CT scan disclosed a low density abnormality in the basal ganglia area, which disappeared as the patient recovered. The clinical signs, CT scan abnormality and EEG findings suggest that this case is not a variant of the Guillain-Barré syndrome but is brainstem encephalitis mimicking Fisher syndrome.

Ataxia↗
PubMed1985

A case of childhood multiple sclerosis with peripheral neuropathy.

A twelve-year-old girl with multiple sclerosis and peripheral neuropathy is reported. When nine years old, she was diagnosed as having Devic disease (optic atrophy and transverse myelitis). During the three years after onset of her illness, she suffered from three relapses and remissions of her multiple sclerosis. On the third occasion, neurological examination revealed signs of cerebellar dysfunction including ataxic gait, nystagmus and dysmetria, and absence of all tendon reflexes with muscle weakness especially on the left side. Markedly slowed conduction velocity in her ulnar nerve especially on the left and elevated CSF protein were noted. Biopsied sural nerve showed decreased density of myelinated fibers and a selective loss of large diameter fibers. Electron microscopy disclosed onion-bulb formation, myelin debris within Schwann cell cytoplasm and demyelinated axons. These findings showed demyelination and remyelination of the peripheral nervous system in this patient with multiple sclerosis. We discuss the relation of multiple sclerosis and peripheral neuropathy.

Biopsy↗
PubMed1985

An application of fluorescein-conjugated monoclonal antibodies to the diagnosis of Chlamydia trachomatis infection in children.

A method for rapid identification of Chlamydia trachomatis (C. trachomatis) from clinical specimens using fluorescein-conjugated monoclonal antibodies was evaluated. Attempts to isolate C. trachomatis by McCoy cell cultures were simultaneously performed. C. trachomatis was isolated from 8 of 62 newborns with neonatal conjunctivitis in tissue culture as compared with 12 positives using monoclonal antibodies. C. trachomatis was isolated from 2 of 7 infants with pneumonia in tissue cultures as compared with 3 positives using monoclonal antibodies. In order to identify either elementary bodies (EB) or reticulate bodies (RB) in clinical specimens, EB and RB of C. trachomatis L2/434 strain were isolated, purified and reacted with monoclonal antibodies. Majority of fluorescence observed in the clinical specimens was considered to be EB.

Antibodies, Monoclonal↗
PubMed1984

Two cases of congenital hypomyelination neuropathy.

The clinical features and findings in biopsied sural nerves of two cases of congenital hypomyelination neuropathy were reported. Case 1 had slightly retarded motor milestones without evidence of respiratory distress during the neonatal period. Case 2 had difficulty in swallowing and respiration after birth and severely delayed motor milestones. The sural nerve, on light microscopy, revealed reduced density of myelinated fibers in the two cases. Electron microscopy disclosed hypomyelination without evidence of active demyelination or axonal changes in the two cases. Onion-bulbs were composed of concentric whorls of Schwann cell process surrounding particularly small myelinated fibers in case 1 and of concentric lamellae, mainly consisting of two parallel layers of basement membrane, in case 2. Congenital hypomyelination neuropathy shows variability of clinical features such as in our two cases. We suspected that there was gradation of severity both in clinical expression and in the disorder of Schwann cells.

Child↗
PubMed1983

A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.

A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and lactate in both blood and cerebrospinal fluid and hyperalanaemia suggested an impairment of pyruvate oxidation. The enzyme activities of pyruvate carboxylase in both liver tissues and cultured skin fibroblasts of the patient revealed values of about 5% of controls. However, pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase activities in liver tissues were within normal limits. The patient had no response to administration of large doses of thiamine, lipoic acid and biotin, clinically and biochemically. A prenatal diagnosis was performed in the second pregnancy and the pyruvate carboxylase activities of the cultured amniotic fluid cells obtained by amniocentesis were within normal limits.

Acidosis↗
PubMed1983

Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.

Cultured skin fibroblasts from two siblings with multiple sulfatase deficiency (MSD) were assayed for the activities of sulfatases known to degrade acidic glycosaminoglycans (AGAG). There were iduronate sulfatase, arylsulfatase B, heparan sulfate (HS) sulfatase, N-acetylgalactosamine-6-sulfate sulfatase, HS-derived N-acetylglucosamine-6-sulfate sulfatase, and two keratan sulfate (KS)-derived N-acetylglucosamine-6-sulfate sulfatases. The activities of sulfatases required for the degradation of HS were reduced to a greater extent than those for the degradation of dermatan sulfate (DS), and those of sulfatases associated with basic defect of Morquio disease type A were moderately decreased or normal. On the other hand, urinary excretion of AGAG in both patients was increased about 10-fold compared to controls, and especially, the excretion of HS and DS was increased about 150-fold and 50-fold, respectively. Keratan sulfate was not detected. The results suggest that in patients with MSD the degradation of HS might be affected to a greater extent than that of DS.

Cells, Cultured↗
PubMed1979

Convulsions from excessive dosage of nalidixic acid: a case report.

A 4-year-old girl who developed convulsions after an accidental ingestion of excessive dosage (50 mg/kg) of nalidixic acid, while treated with the drug (50 mg/kg/day) over 30 days for a urinary tract infection, was reported. Thirty minutes after ingestion, vomiting, tonic-clonic seizures, and abnormal movements were supervened. After ninety minutes, the serum levels of nalidixic acid and hydroxynalidixic acid were 146.1 and 48.9 microgram/ml, respectively. In controls, the mean levels of nalidixic acid and hydroxynalidixic acid were 7.8 +/- 6.8 (SD) and 3.02 +/- 2.6 microgram/ml, respectively.

Child, Preschool↗
PubMedDate not supplied

Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome.

A mother and daughter with suspected dominantly inherited, early-onset, non-progressive cerebellar ataxia syndrome have been reported. A review of the literature and the clinical features of the present cases revealed the nosologic features of this rare disorder, possibly dominant inheritance, floppiness and delayed milestones preceding early-onset mild cerebellar ataxia, non-progressive clinical course, retained or even brisk tendon reflexes without pyramidal tract involvement, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis and the anterior part of the hemispheres.

Adult↗