[A clinical study on a system of assessment of impaired consciousness (the second report) (author's transl)].
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Consciousness↗
Biomedical subjects
C Kanazawa
Publications and source records attributed to C Kanazawa.
[A clinical study on a system of assessment of impaired consciousness (the first report) (author's transl)].
Explore the source record for details and available documents.
Acoustic Stimulation↗
Detection of rotavirus in cerebrospinal fluid and blood of patients with convulsions and gastroenteritis by means of the reverse transcription polymerase chain reaction.
Rotavirus RNA was detected in the blood and cerebrospinal fluid from eight Japanese children with convulsions and gastroenteritis in the acute stage by means of the reverse transcription polymerase chain reaction. This may suggest that rotavirus invades the central nervous system through blood vessels.
Child, Preschool↗
Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibalpha.
PURPOSE: The genetic basis of Bernard-Soulier syndrome (BSS) was studied to clarify a relationship between severe clinical manifestations and gene abnormality. PATIENT AND METHODS: A patient with BSS had a severe bleeding tendency that was sometimes life threatening. Flow cytometric analysis of the patient's and normal control platelets was performed to study which glycoprotein (GP) was impaired in glycoprotein Ib/V/IX complex. The genes encoding GPIbalpha from the patient's and control genomic DNA were amplified and directly sequenced. RESULTS: Flow cytometric analysis revealed a defect of GPIbalpha on the surface of the patient's platelets. A homozygous single base pair deletion was identified in seven repeats of adenine at positions 1932 to 1938 in the GPIbalpha gene. This mutation, which has been previously reported, results in a frameshift and predicts a premature stop codon leading to a truncated peptide that cannot fix on the platelet membrane. CONCLUSION: This patient's severe clinical phenotype would be explained by this mutation in the GPIbalpha gene.
Adolescent↗