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Biomedical subjects

R Minami

Publications and source records attributed to R Minami.

At least 73 records · Page 4Linked to original sources
PubMed1993

Stereoselective analysis of the disposition of tosufloxacin enantiomers in man.

The pharmacokinetics of tosufloxacin enantiomers after oral administration of racemic tosufloxacin were examined in healthy volunteers. Only small differences were observed in time to peak concentration (2.6 +/- 0.3 [mean +/- SEM] h for (+)-tosulfoxacin vs 2.4 +/- 0.2 h for (-)-tosufloxacin), elimination half-life (3.61 +/- 0.24 h vs 3.49 +/- 0.23 h), and area under the curve (2.78 +/- 0.19 h.micrograms/ml vs 2.87 +/- 0.19 h.micrograms/ml); however, peak concentration (0.40 +/- 0.03 microgram/ml vs 0.44 +/- 0.03 microgram/ml), renal clearance (226 +/- 10 ml/min vs 202 +/- 10 ml/min), and urinary recovery (35.4 +/- 2.2% vs 32.4 +/- 1.9%) differed significantly between enantiomers.

Administration, Oral↗
PubMed1993

Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case.

Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with severe central nervous system involvement and muscular atrophy in a 34-year-old male. He had psychomotor retardation and seizures since early childhood and now presented severe mental retardation and generalized muscular atrophy in addition to characteristic facial appearance, hyperelasticity of the skin and joint subluxation. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiographic imaging showed occipital exostoses, bladder diverticula, tortuosity of the peripheral vein and osteoporosis of the skeletal bones. The activity of lysyl oxidase, a copper-enzyme involved in cross-link formation in collagen, was found to be decreased in a skin-biopsy specimen. Electron-microscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of concentric laminated bodies in the subsarcolemmal regions.

Adult↗
PubMed1993

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

We report here the second evidence of retrotransposition of L1, which was found inserted into the dystrophin gene of a patient, causing Duchenne muscular dystrophy (DMD). When the PCR was used to amplify a region of the dystrophin gene encompassing exon 44 from genomic DNA of two Japanese brothers with DMD, it was found to be approximately 600 bp larger than expected. Both the normal and the abnormally large products were amplified from the DNA of their mother. However, the maternal grandparents did not have the abnormal allele, and the mutation must therefore have occurred in the mother. Analysis of nucleotide sequence of the amplified product from a patient disclosed that the insertion was present zero to two bases upstream from the 3' end of exon 44 and that two to four bases of the exon sequence were deleted from the insertion site. The insertion sequence was found to be composed of 606-608 bp and to be almost identical to the inverse complement of 3' portion of the L1 retrotransposon consensus sequence. The dystrophin gene transcript from peripheral lymphocytes of one of the patients was analyzed by using reverse transcription/semi-nested PCR. The size of the amplified product encompassing exon 42 to 46 was smaller than expected. Sequencing of the amplified product disclosed that the sequence of exon 43 was directly joined to that of exon 45. Exon 44 of the transcript was thus shown to be skipped during splicing. This novel mutation of the dystrophin gene has important implications regarding retrotransposition of an active L1 element and provides a new insight into the origins of mutations in the dystrophin gene.

Adult↗
PubMed1993

[A new lupin alkaloid, (-)-leontalbinine N-oxide, in Sophora flavescens var. angustifolia seeds and its synthesis by biomimetic transformation from (+)-matrine N-oxide].

The possibility of the biomimetic transformation of (+)-matrine N-oxide, a main alkaloid in Sophora flavescens var. angustifolia, under various oxidative conditions was examined by the use of several metallic ions. When (+)-matrine N-oxide was warmed with FeSO4, or Fe(COOH)2 in MeOH-H2O at 40 degrees C, (-)-7, 11-didehydromatrine [(-)-leontalbinine], a minor alkaloid in the same plant, was obtained along with (+)-matrine. This selective formation of (-)-leontalbinine seems to be specific to the reaction of (+)-matrine N-oxide with ferrous reagents. In addition, the structure of the newly isolated minor lupin alkaloid from the seeds of S. flavescens. was determined as (-)-leontalbinine N-oxide from its spectral comparison with the authentic sample.

Alkaloids↗
PubMed1993

Intracaval and intracardiac extension of malignant thymoma.

A case of malignant thymoma presenting as the superior vena cava syndrome is reported. A 56-year old male was admitted with superior vena cava syndrome. CT and NMR-CT scan showed a solid homogenous superior mediastinal mass; which filled the lumen of the superior vena cava and the right atrium. A biopsy of the right atrial mass showed myxoma, and operation was performed. Histopathologically the tumor was diagnosed as thymoma. Intracaval and intracardiac extension of a thymoma is very rare.

Diagnosis, Differential↗
PubMed1993

[The effect of nasal IPPV on patients with respiratory failure during sleep due to Duchenne muscular dystrophy].

In order to investigate respiratory failure during sleep in patients with Duchenne muscular dystrophy (DMD), overnight arterial oxygen saturation (SaO2) and end-tidal CO2 (EtCO2) monitoring by capnographoximeter was performed. We supposed that average of EtCO2 over 60 mmHg documented by continuous overnight capnograph study indicated the need for introducing nocturnal respiratory assistance. Accordingly, four patients who showed EtCO2 over 60 mmHg were initiated to treat with nocturnal nasal intermittent positive pressure ventilation (NIPPV). The first ventilator settings were adjusted for patient comfort and to attain near normal arterial blood gas values while the patients were awake on NIPPV. After the patients were able to tolerate NIPPV for the whole night, overnight recording of SaO2 and EtCO2 on nocturnal NIPPV were made to assure the adequacy of ventilation and to provide basis for adjusting ventilator settings. Subsequently, appropriate nocturnal NIPPV could normalize overnight SaO2 and EtCO2, improve daytime arterial PO2 and PCO2, and reverse symptoms of chronic alveolar hypoventilation in these patients. According to further decline in pulmonary function, efficacy of NIPPV must be checked periodically by overnight monitoring, and ventilator resettings should be done if necessary. We believe that early awareness and appropriate management of respiratory failure during sleep by NIPPV are important to postpone tracheostomy for patients with DMD.

Adolescent↗
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↗
PubMed1991

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection.

Fifty unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been studied through use of the dystrophin cDNA probes. The 14-kb dystrophin cDNA was subdivided into six subclones, and Hind III-digested DNAs were analyzed by Southern blotting. Of 50 unrelated patients, 20 showed a deletion of one or several of the exon-containing Hind III fragments (40.0%). These corresponded to 50% (11/22) of BMD patients and 32.1% (9/28) of DMD patients, and the position and extent of deletions were mapped and proven to be more heterogeneous in DMD than in BMD. Both ends of deletions detected by probe 1-2a were common to all six BMD patients, and the 5' ends of deletions in probe 5b-7 were also common to four BMD patients. The phenotypic-specific deletion in Japanese BMD patients existed in the 5' end of the DMD gene, although an apparently similar deletion produced a wide range of clinical courses (BMD phenotype). Three out of eight females in DMD/BMD families were diagnosed as carriers through use of the junctional fragment and dosage analyses of dystrophin cDNA.

Adolescent↗
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↗
PubMed1991

[Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and muscle atrophy--a first Japanese case].

Occipital horn syndrome (OHS; Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes disease. We report a case of OHS in a 34-year-old male, which we believe to be the first Japanese case. He had been noted to have psychomotor retardation since his early childhood and now presents severe psychomotor retardation and muscle atrophy. He shows characteristic facial appearance, hyperelasticity of the skin, joint subluxation and generalized muscular atrophy. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiologic imagings showed occipital exostoses and bladder diverticula. The activity of lysyl oxidase, a copper-dependent enzyme involved in cross-link formation in collagen, was decreased in a skin-biopsied specimen. Electronmicroscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of the concentric laminated bodies in the subsarcolemmal regions.

Adult↗
PubMed1991

[A case of Moebius syndrome--electrophysiological studies of facial nerve and brainstem].

A five-year old boy was the product of a 40 week pregnancy by vertex presentation complicated only by threatened abortion at approximately 8 weeks gestation. Apgar score was 5 after one minute. At birth he was noted to have a generalized hypotonia associated with facial diplegia, small mandible, weak suck and swallow reflexes. Admission examination revealed small mandible, mask-like facial expression and mild mental retardation. Cranial nerve examination showed bilateral blepharoptosis and facial nerve palsies. Pupil reflexes were normal, but corneal reflexes were impaired bilaterally. Diplopia due to the left abducens nerve palsy was suggested. There was no atrophy of the tongue. Motor tone, strength, and deep tendon reflexes were normal. A normal 46 XY karyotype was present. The other clinical and laboratory findings were normal. MRI of the brain was unremarkable. The characteristics of electrophysiological studies were summarized as follows: 1) Auditory brainstem evoked responses demonstrated waveforms IV-V were abnormal because their amplitudes were less than 30% of wave I bilaterally. 2) Somatosensory evoked potentials documented by central conduction times from cervical region to sensory cortex were prolonged on both sides. 3) Facial nerve conduction velocity was calculated by evoked EMGs of the mentalis muscle electrically stimulated at two distal points over the marginal mandibular branch. MCV of the left side was reduced (34.2 m/sec). 4) The amplitude of the facial muscle potentials evoked by facial nerve stimulation was reduced on both sides. 5) Blink reflex responses documented by the latency difference of R1 responses between the two sides were prolonged.(ABSTRACT TRUNCATED AT 250 WORDS)

Blepharoptosis↗
PubMed1991

[A case of type I hyperprolinemia associated with photogenic epilepsy].

A 9-year-old girl with type I hyperprolinemia, who also had photogenic epilepsy, was reported. She showed epileptic discharges and the regression in speech and motor activities, since 7 years of age. Her plasma proline levels were 3 to 4 times higher than control levels. In urine, iminoglycinuria appeared, when plasma proline value exceeded 0.80 mM. The proline oxidase activity of the liver tissues obtained by biopsy in the patient was about 23.5%, compared to that of controls. In spite of the restriction of proline and protein intake, she showed progressive speech and motor retardation.

Amino Acid Metabolism, Inborn Errors↗
PubMed1990

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy.

Thirty-eight unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been investigated with the DMD cDNA probes. The 14-kb DMD cDNA was subdivided into 6 subclones and HindIII-digested DNAs were analyzed by Southern blotting. Out of 38 unrelated patients, 14 showed a deletion of one or several of the exon-containing HindIII fragments (36.8%). These corresponded to 50% (9/18) of BMD patients and 25% (5/20) of DMD patients, and the position and extent of deletions were mapped and proved to be more heterogeneous in DMD than in BMD. Both ends of deletions detected in probe 1-2a were common to all six BMD patients without the maintenance of reading frame of messenger RNA, and 5' ends of deletions in probe 5b-7 were also common but maintained in frame in three BMD patients. The phenotypic-specific deletion in Japanese BMD patients has existed in the 5' end of the DMD gene, although its apparently similar deletion produced a wide range of clinical courses (BMD phenotype). There was no tight correlation between clinical severity and presence or absence of deletion in DMD or BMD.

Adolescent↗