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Biomedical subjects

K Ohno

Publications and source records attributed to K Ohno.

At least 163 records · Page 9Linked to original sources
PubMed2000

Cerebral blood flow, vascular response and metabolism in patients with MELAS syndrome--xenon CT and PET study.

UNLABELLED: Two patients with MELAS syndrome underwent serial measurement of cerebral blood flow (CBF) with xenon CT while they were presenting stroke like episodes accompanying cerebral lesion detectable with CT. One of them underwent PET measurement of regional cerebral metabolic rate of oxygen (CMRO2) and glucose (CMRGlu) after his symptoms and lesion disappeared. METHODS: The xenon CT CBF study was performed by 4 min wash-in and 3 min wash-out protocol with serial measurement of endexpiratory concentration of xenon gas. The CBF after acetazolamide loading was also quantified in one of them. The PET study was performed to quantify CBF, CMRO2, oxygen extraction fraction (OEF) and cerebral blood volume (CBV) by continuous inhalation of O-15 labeled gases and arterial blood sampling. The PET measurement of CMRGlu was performed by i.v. injection of F-18 FDG and arterial blood sampling. RESULTS: 1) During the symptomatic period, Xe-CBF was normal or slightly increased both in and outside the low density lesion. 2) The CBF response to acetazolamide loading was well preserved both in and outside the low density lesions. 3) After the neurological symptoms and low density lesions disappeared, Xe-CBF pattern and vascular response was the same as during the symptomatic period. 4) In the PET study, normal or slightly increased PET-CBF, increased CMRGlu and markedly decreased CMRO2 in comparison to normal control was noted resulting in a marked decrease in OEF and CMRO2/CMRGlu ratio, a characteristic metabolic pattern for MELAS. CONCLUSION: In the present cases, resting CBF and vasomotor reactivity was well preserved both in symptomatic and remission period. On the contrary, abnormal metabolic pattern was noted. The stroke like episode of the present patients is more likely attributed to metabolic failure than vascular accident.

Adult↗
PubMed2000

[The difference in saccadic parameters among several visually guided tasks--saccadic reaction time].

PURPOSE: The saccadic reaction time (SRT) was measured as a saccadic movement parameter using visually guided tasks. SUBJECTS AND METHOD: The SRT was measured for nine healthy adult subjects aged from 28 to 49 years. The visually guided tasks for saccadic movement induction were simultaneous, gap, overlap, delayed-memory, and anti-SM tasks. RESULTS: The median of the SRT (msec) for each task in the actual measurements was as follows: 216 for the simultaneous task, 180 for the gap task, 240 for the overlap task, 234 for the delayed-memory task, and 292 for the anti-SM task. The SRT distribution of each subject exhibited two peaks for the gap task but mostly one peak for each of the other tasks. The first peak, observed in the SRT distribution for the gap task was an eysress saccade. CONCLUSION: The SRT for the gap task was the shortest and the SRT got longer in the order of the simultaneous task, and the overlap task, and the anti-SM task. Some subjects easily showed an express saccade in the gap task, but others did not.

Adult↗
PubMed2000

[The difference in saccadic parameters among several visually guided tasks].

PURPOSE: The present study was undertaken to establish the effects of the five different paradigms (simultaneous, gap, overlap, delayed-memory and anti-saccade tasks) on saccade dynamics (duration, peak velocity, and amplitude). METHODS: We recorded ocular movements in 7 normal subjects, using infrared oculography with a visual stimulation system. RESULTS: The distribution of saccade accuracy in gap and overlap tasks had about the same steepness as that in simultaneous tasks, but that in delayed-memory and anti-saccade tasks was broader than that in simultaneous tasks. The distribution in anti-saccade tasks had a marked intersubject variability, and the average values of accuracy were hypermetric in four subjects. The peak velocity/amplitude ratio in simultaneous and gap tasks were higher than those of other tasks. The relationship between average of peak velocity of abduction and adduction was different, adduction was higher than abduction in simultaneous and gap tasks, and abduction was lower than adduction in delayed-memory and anti-saccade tasks. CONCLUSIONS: The dynamics in simultaneous tasks had about the same characteristics as in gap tasks, but were different from those in overlap, delayed-memory, and anti-saccade tasks. These results indicated that the marked differences in dynamic properties among different saccade types may reflect processes in the visuomotor system.

Adult↗
PubMed2000

[A resected case of lung cancer with an extrapericardial single trunk formed by the left pulmonary veins].

We successfully performed left lower lobectomy in a lung cancer patient with anatomical variation in which left superior and inferior pulmonary veins were connected to the left atrium after foaming an extrapericardial single trunk. When indicating lobectomy, confirming the presence of such anatomical variation is clinically significant to prevent the development of pulmonary edema in the residual lung due to improper division of the single trunk as well as preventing subsequent possibly essential completion pneumonectomy.

Aged↗
PubMed2000

[Cystinosis].

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Amino Acid Transport Systems, Neutral↗
PubMed2000

[Apert syndrome].

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Acrocephalosyndactylia↗
PubMed2000

[Pfeiffer syndrome].

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Acrocephalosyndactylia↗
PubMed1999

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

OBJECTIVE: To identify and to characterize functionally the mutational basis of congenital myasthenic syndromes (CMS) linked to chromosome 17p. BACKGROUND: A total of 37 patients belonging to 13 CMS families, 9 of them consanguineous, were investigated. All patients were linked previously to the telomeric region of chromosome 17p. Two candidate genes in this region encode synaptobrevin 2, a presynaptic protein, and the epsilon-subunit of the acetylcholine receptor (AChR). Direct sequencing of the synaptobrevin 2 gene revealed no mutations. The authors thus searched for mutations in the epsilon-subunit gene of AChR. METHODS: Direct sequencing of the AChR epsilon-subunit, restriction analysis, allele-specific PCR, and expression studies in human embryonic kidney cells were performed. RESULTS: The authors identified two previously characterized and five novel epsilon-subunit gene mutations, all homozygous, in the 13 kinships. Two of the novel mutations are truncating (epsilon723delC and epsilon760ins8), one is a missense mutation in the signal peptide region (epsilonV-13D), one is a missense mutation in the N-terminal extracellular domain (epsilonT51P), and one is a splice donor site mutation in intron 10 (epsilonIVS10+2T-->G). Unaffected family members have no mutations or are heterozygous. Expression studies indicate that the four novel mutations in the coding region of the gene and the most likely transcript of the splice-site mutation, which skips exon 10, are low-expressor or null mutations. CONCLUSIONS: Chromosome 17p-linked congenital myasthenic syndromes are caused by low-expressor/null mutations in the AChR epsilon-subunit gene. Mutations in this gene are a common cause of CMS in eastern Mediterranean countries.

Adolescent↗
PubMed1999

The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo.

Niemann-Pick C disease (NP-C) is a neurovisceral lysosomal storage disorder. A variety of studies have highlighted defective sterol trafficking from lysosomes in NP-C cells. However, the heterogeneous nature of additional accumulating metabolites suggests that the cellular lesion may involve a more generalized block in retrograde lysosomal trafficking. Immunocytochemical studies in fibroblasts reveal that the NPC1 gene product resides in a novel set of lysosome-associated membrane protein-2 (LAMP2)(+)/mannose 6-phosphate receptor(-) vesicles that can be distinguished from cholesterol-enriched LAMP2(+) lysosomes. Drugs that block sterol transport out of lysosomes also redistribute NPC1 to cholesterol-laden lysosomes. Sterol relocation from lysosomes in cultured human fibroblasts can be blocked at 21 degrees C, consistent with vesicle-mediated transfer. These findings suggest that NPC1(+) vesicles may transiently interact with lysosomes to facilitate sterol relocation. Independent of defective sterol trafficking, NP-C fibroblasts are also deficient in vesicle-mediated clearance of endocytosed [14C]sucrose. Compartmental modeling of the observed [14C]sucrose clearance data targets the trafficking defect caused by mutations in NPC1 to an endocytic compartment proximal to lysosomes. Low density lipoprotein uptake by normal cells retards retrograde transport of [14C]sucrose through this same kinetic compartment, further suggesting that it may contain the sterol-sensing NPC1 protein. We conclude that a distinctive organelle containing NPC1 mediates retrograde lysosomal transport of endocytosed cargo that is not restricted to sterol.

Amino Acid Sequence↗
PubMed1999

Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-to-G transition was found in exon 19 of TSC2 at nucleotide position 2168. This mutation caused an amino acid change, L717R. There was no such mutation in any other family members or in 100 normal Japanese. An automated sequencer-assisted quantitative analysis of normal and mutated SSCP-bands revealed no loss of heterozygosity (LOH) in the lung cyst tissue of the patient.

Adolescent↗