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Biomedical subjects

N Tachi

Publications and source records attributed to N Tachi.

At least 91 records · Page 5Linked to original sources
PubMed1992

Severe neonatal nemaline myopathy--histological and histochemical studies of respiratory muscles.

The histological and histochemical findings in the respiratory muscles of a patient with severe neonatal nemaline myopathy are described. The patient suffered from frequent pneumonia associated with vomiting due to gastroesophageal reflux and died at 3 months from respiratory failure. The diaphragm was moderately involved and the intercostal muscles mildly involved. Core/targetoid structures were observed in the diaphragm and intercostal muscles.

Comorbidity↗
PubMed1991

Benign familial neonatal convulsions: clinical features of the propositus and comparison with the previously reported cases.

A family with benign familial neonatal convulsions (BFNC) was presented. The propositus had his first episodes of cyanosis on the second day after birth. Thereafter, he also experienced multifocal clonic and/or focal clonic seizures. Between the seizures he appeared well and was essentially normal upon physical examination. Treatment with phenobarbital (4 mg/kg/day, p.o.) was started, and subsequently, he had no further seizures until 3 months of age. At the age of 4 months, he was again admitted to the hospital because of generalized tonic-clonic seizures. The findings of ictal EEG at that time were characterized by fast spiking with increasing amplitude during the tonic phase. During the clonic phase, there were repetitive bursts of spikes or sharp waves mixed with persisting muscle potentials. The termination of the convulsion was characterized by general voltage depression. Reference to previously reported cases of BFNC revealed that 10-15% of patients with this disorder had epilepsies later in life.

Electroencephalography↗
PubMed1990

Histochemical and biochemical studies in a patient with myophosphorylase deficiency.

The present report describes the histochemical and biochemical findings of biopsied muscles in a 26-year-old male with myophosphorylase deficiency. Histochemical analysis of the first biopsy specimen revealed that the phosphorylase activity was absent, corresponding to an absent band at 94,000 Da on the basis of sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Histochemically the second biopsy specimen showed a partial phosphorylase activity of type 2B fibers, corresponding to a weakly staining band at 94,000 Da on the basis of SDS-PAGE. The present study supports the hypothesis that myophosphorylase deficiency is essentially a single gene disorder, characterized by absence or marked reduction of the myophosphorylase protein.

Adult↗
PubMed1990

[Benign familial neonatal convulsion: clinical features of the propositus and comparison with the previously reported cases].

A patient with benign familial neonatal convulsions was presented. The patient had the first episode of cyanosis on the second day of life. Thereafter, he also experienced focal clonic and/or multifocal clonic seizures. The interictal EEG showed no definite abnormality. Between the seizures he appeared well and physical examination was essentially normal. Treatment with phenobarbital (4 mg/kg/day, P. O.) was started and subsequently he had no further seizures until 3 months. At the age of 4 months, he was admitted to the hospital again because of generalized tonic-clonic seizures. The interictal EEG showed sporadic spikes dominantly in the right central area. The findings of ictal EEG at that time are characterized by fast spiking of increasing amplitude during the tonic phase. During the clonic phase, there are repetitive+ bursts of spikes and sharps mixed with persisting muscle potential. The termination of the convulsion is characterized by general voltage depression. Clinical characteristics such as seizure types, EEG findings, responses to antiepileptic drugs and recurrence of the seizures found in our propositus were compared with those of the patients previously reported in the literature.

Adult↗
PubMed1988

Electron microscopic study of the biopsied cardiac muscle in Duchenne muscular dystrophy.

Cardiac muscular biopsies were performed on 4 patients with Duchenne muscular dystrophy (DMD). None of the patients had cardiac symptoms and all of them exhibited normal electro- and echocardiographic findings. Electron microscopic examination of cardiac muscles from 4 patients with DMD disclosed proliferation of the mitochondria, changes in the cristae, abnormalities of the Z-bands, dilatation of the sarcoplasmic reticulum, deposition of glycogen, and changes in the nuclei. The most striking finding in these patients was that the residual bodies were increased and were observed mainly in the perinuclear region. These ultrastructural features suggest that an extreme exhaustion had already been present in myocardial tissue of the patients prior to the onset of cardiac symptoms.

Adolescent↗
PubMed1988

Peripheral neuropathy in four cases of group A xeroderma pigmentosum.

We describe the clinical features and findings of biopsied sural nerves of 4 cases of xeroderma pigmentosum. Nine genetic forms of xeroderma pigmentosum have been reported by complementation studies. These four cases were diagnosed as Group A xeroderma pigmentosum by complementation studies using cultured skin fibroblasts. All cases had delayed mental and motor development in areas such as head control over 4 months of age and walking without support over 18 months of age. Three cases had the gradual onset of a gait disturbance between 6 and 9 years of age. Motor conduction velocity and sensory conduction velocity of the ulnar nerve were slightly delayed. The sural nerve of the slightly impaired patient showed a normal density of myelinated fibers, but a selective reduction of the large myelinated fibers with zebra-body-like structures in Schwann cell cytoplasm. The population density of all nerve fibers was severely diminished in the severely impaired cases. Ultrastructural observation disclosed many denervated Schwann cells and pockets of collagen isolated by loops of denervated Schwann cell cytoplasm. These findings suggest that the degenerative process in peripheral nerves of xeroderma pigmentosum is axonal. Peripheral neuropathy in Group A xeroderma pigmentosum resembles that of patients with ataxia telangiectasia who are known to have a defect in the repair mechanisms of their DNA in cultured skin fibroblasts.

Adolescent↗
PubMed1987

Degradations of 4-cholesten-3-one and 1,4-androstadiene-3,17-dione by cholesterol-degrading bacteria.

Degradations of 4-cholesten-3-one and 1,4-androstadiene-3,17-dione, which are intermediates of microbial conversion of cholesterol, by cholesterol-degrading bacteria (12 strains of the genus Rhodococcus isolated from food of animal origin and 12 culture collection strains) were examined. All strains had the ability to degrade 4-cholesten-3-one without necessarily being able to degrade cholesterol. On the other hand, the bacteria were divided into three groups with little or no (0-10%), intermediate (10-70%) and high (70-100%) degradation abilities for 1,4-androstadiene-3,17-dione.

Androstadienes↗