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Biomedical subjects

S Tsuji

Publications and source records attributed to S Tsuji.

At least 253 records · Page 14Linked to original sources

Pure apraxic agraphia with abnormal writing stroke sequences: report of a Japanese patient with a left superior parietal haemorrhage.

A 67 year old Japanese male patient had pure agraphia after a haemorrhage in the left superior parietal lobule. He developed difficulty in letter formation but showed no linguistic errors, consistent with the criteria of apraxic agraphia. He manifested a selective disorder of sequencing writing strokes, although he was able to orally state the correct sequences. The patient's complete recovery after 1 month, without new learning, showed that he had manifested a selective disorder of writing stroke sequences. These findings indicate that the final stage of the execution of writing according to acquired sequential memory shown as a stroke sequence can be selectively disturbed, and should be considered to be distinct from the ability of character imagery and the knowledge of the writing stroke sequence itself. This case also indicates that the left superior parietal lobule plays an important part in the execution of writing.

Aged↗

Focal (segmental) dyshidrosis in syringomyelia.

The features or mechanisms of dyshidrosis have not been sufficiently clarified. Neither has the difference between hyperhidrosis and hypohidrosis. To clarify the features and mechanisms of dyshidrosis (hyperhidrosis and hypohidrosis) in syringomyelia, the clinical features focusing on hidrosis of 30 patients with syringomyelia and Chiari malformation located from a syringomyelia database were prospectively analysed. The patients were classified into three groups: eight patients (26.7%) had segmental hypohidrosis, 10 (33. 3%) had segmental hyperhidrosis, and 12 (40.0%) had normohidrosis. We found that the Karnofsky functional status for the hyperhydrosis and normohidrosis groups were significantly higher than for the hypohidrosis group (p=0.0012), with no significant differences between the hyperhidrosis and normohidrosis groups. The duration from the onset of syringomyelia to the current dyshidrosis was significantly longer in the hypohidrosis group than in the hyperhidrosis group (p=0.0027). A significant correlation was identified between the duration from the onset of syringomyelia to the time at study and the performance score (r=-0.599, p=0.0003). The results substantiate previous hypotheses that in its early stage syringomyelia causes segmental hyperactivity of the sympathetic preganglionic neurons, and hyperactivity of these gradually subsides as tissue damage progresses. Focal hyperhidrosis may be regarded as a hallmark of a relatively intact spinal cord, as well as normohidrosis.

Adolescent↗

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.

OBJECTIVES: Mutational analysis of the sterol 27-hydroxylase (CYP27) gene was performed on three patients from two Japanese families who had cerebrotendinous xanthomatosis (CTX) associated with parkinsonism. METHODS: Clinical evaluations, brain MRI studies, and laboratory analyses were completed on the three patients. The CYP27 gene was analysed for mutations by PCR amplification of gene segments followed by direct sequencing. RESULTS: Two different, homozygous mutations were identified in these families. One is a novel transition, substituting T for G at Glu162 (GAG) resulting in a stop codon (TAG). The other is also a transition, substituting T for C at Arg441 (CGG) resulting in Trp (TGG). The second is located in two amino acids ahead of the heme ligand binding site (Cys443) of the protein likely rendering it non-functional. It is the most common CTX mutation in Japanese patients. CONCLUSIONS: CTX with parkinsonism is caused by mutations with a severe impact on enzyme function. The two mutations described here are likely to cause loss of function because they are chain terminating or affect an essential site in the protein.

Adult↗

Nocturnal decrease in vasopressin secretion into plasma in patients with multiple system atrophy.

To determine whether the nocturnal decrease in arginine vasopressin (AVP) secretion into the plasma, found in a patient with multiple system atrophy (MSA) reported previously, is a usual finding in MSA, the plasma AVP concentrations in 13 patients with MSA were measured every 4 hours during a 24 hour period. The plasma AVP concentrations in these patients showed significant daily variations and were the lowest during the night. This finding indicates that patients with MSA often exhibit nocturnal decrease in AVP secretion into the plasma. The results suggest the possibility that the system responsible for the daily variations in AVP secretion is involved in MSA.

Aged↗

Immunohistochemical analysis of Bcl-2, Bax, Bcl-X, and Mcl-1 expression in pancreatic cancers.

Expression of several members of the Bcl-2 family proteins was investigated by means of both immunohistochemical analysis in 30 invasive ductal adenocarcinomas and 23 intraductal papillary-mucinous tumors (IPMTs) and immunoblot analysis in 6 cancer tissues and 7 pancreatic cancer cell lines. We found that Bcl-2 was expressed in 23%, Bax in 53%, Bcl-X in 90%, and Mcl-1 in 90% of the invasive ductal adenocarcinomas. In intraductal papillary-mucinous adenocarcinomas, the expression rate of Bax was 44% and those of Bcl-XL and Mcl-1 were 88%; these values were higher than those for intraductal papillary-mucinous adenomas. Immunoblot analysis identified Bcl-XL as the predominant form of the Bcl-X protein in both pancreatic cancer tissues and cell lines, and demonstrated that both Bcl-XL and Mcl-1 protein levels were uniformly high in all cell lines. These results suggest that an imbalance between antiapoptosis proteins (such as Bcl-2, Bcl-XL, and Mcl-1) and proapoptotic proteins (such as Bax and Bcl-Xs) is involved in the distinctive biologic features of adenocarcinomas of the pancreas. Furthermore, predominantly high expressions of Bcl-XL and Mcl-1 in intraductal papillary-mucinous adenocarcinomas might be involved in the carcinogenesis in IPMT of the pancreas.

Adenocarcinoma↗

[Development and assessment of the pharmaceutical management and guidance services for inpatients considering clinical value and economy].

We developed pharmaceutical management and guidance services for inpatients in a ward of circulatory medicine, considering clinical and economical standpoints. In these services, pharmacists deliver drugs prescribed for inpatients with individual drug information papers, explain to them about their drugs using information papers and give counsel. Since most of the patients were aged people, developing many kinds of diseases and taking many kinds of drugs, they had many problems such as lack of knowledge of the effects of drugs. First, we surveyed views of patients, physicians and nurses on these services. Consequently, all of them advised us that "pharmacists should explain to patients about the prescribed drugs using information papers." The patients preferred pharmacists as expositors of drugs to physicians or nurses. The physicians considered that "pharmacists have to attach importance to clinical information and package-inserts of drugs and explain to patients about drug information using pamphlet in response to the understanding of patients." The nurses wanted to cooperate with pharmacists in "improving medication compliance." On the basis of these views, we improved our services. Next, we made a survey of patients' knowledge about their drugs. We found that in the patients the level of knowledge concerning "ways," "effects" and "reasons" of taking drugs and that of "compliance" and "satisfaction in taking drugs" were improved through these services. The patients reentered in the hospital kept a high level. The ratio of patients taking drugs by themselves increased. Last, we also applied this method to wards of "blood and collagen diseases" and "pediatrics." The demand for these services increased smoothly. We compared these services based on our method with all other services by hospital pharmacists from the viewpoint of economy. We found that only our service method was beneficial.

Drug Therapy↗

A 20-kDa protein with the GTP-binding and trypsin inhibitory activities from Glycine max.

A 20-kDa protein (p20) with a GTP binding activity was purified from the cultured cells of Glycine max (soybean). The amino acid sequence of p20 showed 65% identity in a 23 amino acid overlap against the Kunitz-type trypsin inhibitor of soybean reported. Furthermore, it was found that a Kunitz-type soybean trypsin inhibitor of commercial origin also binds GTP.

Amino Acid Sequence↗

Estimation of the systolic pulmonary arterial pressure using contrast-enhanced continuous-wave Doppler in patients with trivial tricuspid regurgitation.

Noninvasive estimation of pulmonary arterial pressure is important for hemodynamic monitoring of patients with heart disease. In patients with tricuspid regurgitation (TR), the peak velocity of TR on continuous-wave (CW) Doppler can be used to estimate the systolic pulmonary arterial pressure (PAPs) using the simplified Bernoulli equation. We evaluated a new technique of contrast-enhanced CW Doppler for calculating PAPs in patients with trivial TR. Forty-one patients without visible TR detected by color Doppler, pulsed Doppler or CW Doppler were evaluated. Age ranged from 19 to 73 (55 +/- 12) years old. Tricuspid flow signals were recorded on CW Doppler after intravenous administration of indocyanin green (ICG) or Albunex. PAPs was calculated as; PAPs = 4 x VTR2 + 10 mmHg, where VTR is the peak velocity of TR. PAPs calculated using contrast-enhanced CW Doppler was compared with PAPs measured by the following cardiac catheterization. 1) TR signals were recorded using the contrast-enhanced CW Doppler technique in 39 of 41 patients (95%) after intravenous administration of contrast agents. 2) The error of estimate of PAPs using the contrast-enhanced CW Doppler technique was -2.4 +/- 7.5 mmHg, and the percent error was -10.7 +/- 32.4% in all patients. In 20 of 39 patients (51%), the error of estimate was within +/- 5 mmHg. 3) PAPs was overestimated by 12.2 +/- 6.1 mmHg in patients with good contrast enhancement of TR signals. The contrast-enhanced CW Doppler technique is useful for estimating PAPs noninvasively in patients with trivial TR. It is better to assume the right atrial pressure as 3-5 mmHg, not 10 mmHg, in patients with good enhancement of trivial TR. Physiological TR may be enhanced by contrast agents in these patients.

Adult↗

Chronic inflammatory demyelinating polyneuropathy with multiple hypertrophic nerves in intracranial, and intra- and extra-spinal segments.

Hypertrophic nerves have occasionally been seen in chronic inflammatory demyelinating polyneuropathy (CIDP), but most are in the cauda equina. We report a case with CIDP in whom magnetic resonance imaging (MRI) with gadolinium diethylene triamine penta-acetic acid (Gd-DTPA) enhancement demonstrated hypertrophy of various peripheral nerves including multiple cranial nerves. Interestingly, none showed neurological signs corresponding to the lesions, except for clinical signs consistent with CIDP. MRI can be useful for the detection of silent, but abnormal nerve involvement in CIDP.

Adult↗

[Possible availability of rapid urease tests for diagnosis of Helicobacter pylori eradication: comparative study with culture and histology].

Rapid urease tests (RUTs) are simple and economical methods to detect Helicobacter pylori infection. However, they have been thought to be unreliable to confirm successful eradication of the infection following treatment. We reviewed the efficiency of RUTs and investigated their possible indication for use after eradication therapy. The sensitivity of highly sensitive RUTs seemed to be comparable to that of culture regardless of the timing for testing, but remarkably lower than that of histology within a few months after treatment. Highly sensitive RUTs, used several months after therapy, produced excellent accuracy, suggesting that they might be available to confirm successful treatment, taking cost and time factors into consideration.

Bacteriological Techniques↗

[Dynamic mutation and its molecular cytogenetics].

Dynamic mutation, the mechanism of allelic expansion of the heritable unstable triplet repeat DNA sequences, has been the subject of intense investigation since its discovery in 1991 as the molecular basis for fragile X syndrome. The fundamental distinction between dynamic and other forms of mutation is that dynamic mutation is a process rather than a single event. The process involves a relationship between the copy number of perfect repeat DNA sequence and its instability which accounts for the anticipation seen in families carrying a dynamic mutation disease. Recently, dynamic mutation due to allelic expansion of minisatellite repeats has also been demonstrated as either the fragile sites and a genetic disease. In this minireview, dynamic mutations associated with chromosomal fragile sites and their cytogenetics are overviewed.

Chromosome Fragile Sites↗

[Advances in understanding of clinical presentations and molecular mechanisms of triplet repeat diseases].

Triplet repeat diseases are diseases caused by unstable expansion of trinucleotide repeats in the causative genes. Identification of the causative genes has made it possible to understand the clinical presentations and molecular mechanisms of neurodegeneration caused by expanded triplet repeat diseases. In the triplet repeat diseases caused by expansion of CAG trinucleotide repeats, the CAG repeats code for polyglutamine stretches. Evidences, which indicate that proteins with expanded polyglutamine stretches result in aggregate formation and induce apoptosis, are accumulating, and it is expected that development of therapeutic measures for triplet repeat diseases will become a reality in the near future.

Age of Onset↗

[Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene].

Spinocerebellar Ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by unstable expansion of a CAG repeat, and the intergenerational change in the number of CAG repeat units has been shown to result in genetic anticipation of SCA2. To elucidate the molecular mechanism of intergenerational instability of CAG repeat, 16 affected parent-affected offspring pairs were studied. The mean intergenerational changes of CAG repeat were 5.3 +/- 6.9 repeat in paternal transmission (n = 11) and 2.8 +/- 3.1 repeat in maternal transmission (n = 5). Two CAA insertion pattern (CAG)8CAA(CAG)4CAA(CAG)8 and (CAG)13CAA(CAG)8 were found in normal alleles, and there was no significant correlation CAA insertion pattern of parents normal allele and the intergenerational change of CAG repeat.

Humans↗

[Molecular cytogenetics of fragile X syndrome].

Fragile X syndrome is the most common heritable form of mental retardation, and affects 1 in 1500(male)-2500(female), with minor dysmorphic manifestations such as long face with large protruding ears and macro-orchidism in mentally retarded male patients. The syndrome is caused by dynamic mutation(trinucleotide repeat expansion) at FRAXA located on the long arm of X chromosome. Molecular diagnosis enables carrier identification as well as prenatal diagnosis, in which the cytogenetic method was not feasible. Premutation in phenotypically normal carriers and full mutation in mentally retarded patients explain the characteristic inheritance of the disease called anticipation. This article describes the recent advancements in molecular cytogenetics of fragile X syndrome.

Anticipation, Genetic↗