Biomedical subjects

Sachiko Kinoshita

Publications and source records attributed to Sachiko Kinoshita.

16 recordsLinked to original sources

PubMed2005

Protein S and protein C gene mutations in Japanese deep vein thrombosis patients.

OBJECTIVES: Coagulation factor V Leiden has not been detected in Japanese patients suffering from thrombosis. Hitherto, the constitutional background of Japanese thrombotic patients has never been systematically examined. We have performed a systematic investigation to determine pathogenesis for deep vein thrombosis in a Japanese population. DESIGN AND METHODS: Routine coagulation and fibrinolysis tests were performed to determine the activities of protein S, protein C, antithrombin, plasminogen and fibrinogen. Gene analysis was performed in thrombotic patients having low activities of these factors. RESULTS: Our study indicates that the frequency (19/85 = 0.22) of mutations of protein S gene in the Japanese patients was 5-10 times higher than that of mutations of protein S gene in Caucasian patients, and the frequency (8/85 = 0.09) of mutations of protein C gene was almost three times higher than that of Caucasian patients. The frequency of antithrombin gene mutation was similar in both populations. CONCLUSION: Our study reinforces that the genetic anomaly in the protein S/protein C anticoagulation system is an important risk factor for thrombophilia in the Japanese population.

Adolescent↗

PubMed2005

Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients.

We investigated the molecular basis of reduced functional levels of antithrombin (AT) in two individuals suffering from thromboembolic events. In each case direct sequencing of amplified DNA revealed 13,260-13,262 del in one patient and 2511C>A in the other patient, predicting a heterozygous E381del and P16H, respectively. Both patients had no 20210A allele and factor V Leiden mutation. To understand the molecular mechanism responsible for antithrombin deficiency, stable expression experiments were performed using HEK293 cells transfected with the expression vector containing the wild-type or the mutated recombinant cDNA. In these experiments, the media levels of the two mutated antithrombins were the same as that of wild type, but the specific activity of the E381del mutant decreased significantly compared with that of wild type. These results showed that the E381del mutation was responsible for type II deficiency, whereas the other mutation, P16H, did not produce any definite abnormality which could contribute to antithrombin deficiency.

Antithrombins↗

PubMed2004

Analytical goals for coagulation tests based on biological variation.

Allowable imprecision and bias reference limits for laboratory data can be calculated based on measurements of biological variation. Although biological variation of clinical chemical data has been reported from many laboratories, there have been few reports of biological variation in coagulation tests. In this study, we calculated the biological variation of 13 coagulation tests in the clinical laboratory of Kyushu University Hospital and determined allowable imprecision and bias limits of variation. The participating subjects were 17 healthy individuals: three males and two females in their 20s, two males and two females in their 30s, one male and four females in their 40s, and two males and one female in their 50s. Monthly measurements were performed before breakfast 12 times from June 2001 to May 2002 and allowable imprecision and bias limits were calculated. Taken together with coefficient of variation of control plasma used in daily laboratory work at the hospital, the allowable imprecision limits of intra-laboratory variation determined in this study appear to be in attainable ranges.

Adult↗

PubMed2004

Modulation of regularity and lexicality effects in reading aloud.

We examined the question of whether the sizes of the regularity and lexicality effects in naming can be modulated as a function of filler type (nonwords or low-frequency exception words). The lexicality effect was larger in the exception word filler condition than in the nonword filler condition, but the size of the regularity effect was essentially unaffected by filler type. This pattern is at odds with what is generally assumed to be the predictions from dual-route theories of reading aloud. An attempt was next made to determine whether the dual-route cascaded model of Coltheart, Rastle, Perry, Langdon, and Ziegler (2001) could possibly simulate this pattern when changes were introduced to each of the three parameters that affect the contribution of the nonlexical route. We discuss the implications of these results for the idea that reliance on the lexical and nonlexical routes is under strategic control.

Humans↗

PubMed2003

Priming and attentional control of lexical and sublexical pathways in naming: a reevaluation.

The authors report 3 naming experiments using J. D. Zevin and D. A. Balota's (2000) multiple prime manipulation. They used 2 sets of nonword primes (fast and slow) and low-frequency exception word primes to separate the effects of prime speed from those of prime type. The size of the regularity effect was unaffected by prime type. Relative to the low-frequency exception word prime condition, the frequency effect was reduced in the fast, but not in the slow, nonword prime condition. Lexicality effect size was reduced in both nonword prime conditions, a result consistent with the lexical checking strategy described by S. J. Lupker, P. Brown, and L. Colombo (1997). The authors suggest that these results are better explained in terms of S. J. Lupker et al.'s time-criterion account than J. D. Zevin and D. A. Balota's pathway control hypothesis.

Attention↗

PubMed2003

Identification of simultaneous mutation of fibrinogen alpha chain and protein C genes in a Japanese kindred.

Afibrinogenaemia usually induces a bleeding tendency during infancy, whereas protein C deficiency increases susceptibility to thrombosis in children or adolescence. Mutations of these genes have been, therefore, established as independent risk factors for coagulation disorders. We describe the homozygous mutation of the fibrinogen alpha chain gene and additional heterozygous mutation of the protein C gene in a male infant who showed prolonged umbilical bleeding after birth. On examination, the plasma fibrinogen was undetectable, and the activity and antigen level of protein C were reduced. The patient showed no fibrinogen Aalpha chain as well as Bbeta and gamma chains by Western blotting. The sequencing analysis showed the homozygous deletion of 1238 bases from intron 3 at position 2008 to intron 4 at position 3245 in the fibrinogen alpha chain gene. Both parents were heterozygous carriers of this mutation. In this patient, an additional mutation was also detected in the protein C gene: the heterozygous deletion of exon 7 at position 6161-6163 or 6164-6166, resulting the deletion of one amino acid (Lys150 or 151). His mother was also a carrier of this mutation. As the simultaneous mutation of the fibrinogen alpha chain and protein C genes has not been previously reported, the influence of the interaction between these two mutations on the clinical manifestations of this patient should be carefully monitored for a long period.

Afibrinogenemia↗

PubMed2003

How does orthographic knowledge influence performance on phonological awareness tasks?

Three experiments explored the nature of orthographic influences on performance on phonological awareness tasks. Experiment 1 demonstrated that adults find it easier to perform phoneme deletions on items where there is a direct correspondence between letters and target sounds (e.g., take the /r[se text]/ from struggle) than where there is not (e.g., take the /w[see text]/ from squabble). Analogous results were found in a phoneme reversal task. Spelling production ability tended to correlate more strongly with performance on the former type of item than on the latter, suggesting that elevated performance on phonological awareness tasks is associated with the use of orthographic information. Experiment 2 produced similar results in Grade 5 children. Experiment 3 suggested that adults cannot inhibit orthographic activation when it is disadvantageous to them, as they performed no better on items such as squabble when they were presented in pure blocks than when they were presented in mixed blocks. It is concluded that there are substantial automatic orthographic influences on phonological awareness task performance that need to be taken into account in interpreting data concerning the relationship between phonological awareness and reading.

Adult↗

PubMed2003

Systemic vasculitis associated with alphal-antitrypsin deficiency.

We describe a rare case of systemic vasculitis associated with alpha1-antitrypsin (alpha1-AT) deficiency. Mutational analysis of the alpha1-AT gene in this patient revealed a homozygous alpha1-AT Mnichinan variant. Alpha1-AT possesses broad-spectrum inhibitory activity against many serine proteases, including human neutrophil elastase, to help maintaining the crucial balance between proteases and protease inhibitors. The increase in free protease activity in the context of alpha1-AT deficiency may induce exacerbation of the vasculitis. This serious genetic defect severely affects the balance between a protease and a protease inhibitor at the pathological site.

Female↗

PubMed2003

Cross-task strategic effects.

When easy and difficult items are mixed together, their reading aloud latencies become more homogeneous relative to their presentation in unmixed ("pure") conditions (Lupker, Brown, & Colombo, 1997). We report two experiments designed to investigate the nature of the mechanism that underlies this list composition, or blocking, effect. In Experiment 1, we replicated Lupker et al.'s (1997) blocking effect in the reading aloud task and extended these findings to the visual lexical decision task. In Experiment 2, we found that blocking effects generalized across tasks: The characteristics of stimuli in a visual lexical decision task influenced reading aloud latencies, and vice versa, when visual lexical decision and reading aloud trials were presented alternately in the same experiment. We discuss implications of these results within time-criterion (Lupker et al., 1997) and strength-of-processing (Kello & Plaut, 2000, 2003) theories of strategic processing in reading.

Decision Making↗

PubMed2003

[A basic study of determination matrix metalloproteinase-3 and carbohydrate in rheumatoid factor in serum for diagnosis of rheumatoid arthritis].

The examination of rheumatoid factor (RF), one of the diagnostic marker of rheumatoid arthritis (RA), showed negative about 25% of patients with RA. We analyzed a matrix metalloproteinase-3 (MMP-3) and a carbohydrate in rheumatoid factor (CA.RF) for diagnosis of RA: the former is used the kit "Panaclear MMP-3[Plate]" and the latter is used the kit "Picolumi CA.RF". The basic study of these reagents showed satisfactory results. In 73.3% of seronegative RA showed positive on both MMP-3 and CA.RF levels in serum, respectively. We found that these examinations might be useful for diagnosis of RA, especially during seronegative RA.

Adult↗

PubMed2003

[Real-time PCR quantification of bcr/abl chimera and WT1 genes in chronic myeloid leukemia].

Quantification of mRNAs deriving from malignant cells is useful for estimating leukemic states. In this study, we have developed RT-PCR methods using real-time PCR detection system, a LightCycler, for quantification of bcr/abl chimerical genes in peripheral blood and bone marrow of chronic myeloid leukemia patients. Total amounts of RNA extracted were corrected using beta-actin gene as an internal standard. The coefficients of variation of intra-assay variation and inter-assay variation for each gene were within a range of 1.7-26.0% which showed more precise quantification than the competitive PCR method. The coefficients of variation of assay are within a range of 7.7-27.6% in the case of using three samples of normal subjects from blood collecting to quantification of bcr gene. Bcr/abl and WT1 genes could be measured from 10(2) to 10(8) copies and 10 to 10(5) copies with linearity, respectively. Using real-time PCR detection with LightCycler system, 2 x 10(3) K562 cells among 2 x 10(6) total cells demonstrated the bcr/abl gene, while 2 x 10(1) K562 cells among 2 x 10(6) total cells could be detected using the nested PCR method. In tests of seven clinical samples, five samples demonstrated bcr/abl and WT1 genes, while those in two other patients after bone marrow transplantation and a normal subject could not detected. This result suggests that our quantitative method reflect the clinical stages of CML patients.

Chimera↗

PubMed2002

Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on secretion and anticoagulant activity of protein S.

Four missense mutations, G54R, T589I, K155E, and Y595C, were identified in the protein S (PS) gene of the patients with PS deficiency and venous thrombosis. Three patients were heterozygous for the novel mutations, G54R, T589I, and Y595C, while a remaining one patient was homozygous for the K155E mutation, which is known to be a polymorphism in the Japanese population. A family study revealed that the Y595C mutation was associated with a Type I PS deficiency and the K155E mutation with a Type II PS deficiency, while no family study was performed for the patients with the G54R and T589I mutations. To determine whether these four mutations play a causative role in PS deficiency, the four PS mutants and wild-type PS were stably expressed in human embryo kidney (HEK) 293 cells. Pulse-chase experiments showed intracellular degradation and decreased secretion of the Y595C mutant. In the activated protein C (APC) cofactor assays, the specific activity of the K155E mutant decreased to 58% of that of wild-type PS. The APC cofactor activity of the three mutants, G54R, K155E, and T589I, were inhibited by C4b-binding protein (C4BP) with a dose dependency similar to that of wild-type PS. These results indicate that the Y595C and the K155E mutations are responsible for a secretion defect and a decreased anticoagulant activity of PS, respectively. The remaining two mutations, G54R and T589I, however, did not produce any definite abnormality leading to a low plasma PS activity.

Adult↗

PubMed2002

Localization of epileptogenic zone in temporal lobe epilepsy by ictal scalp EEG.

Our aim was to evaluate the ability to localize the epileptogenic zone in temporal lobe epilepsy (TLE) by ictal scalp electroencephalogram (EEG). Using simultaneous video recording, we analysed scalp EEG activity during ictal periods in 38 patients (30 patients with medial TLE (MTLE) and eight with lateral TLE (LTLE)). In 14 patients, intracranial ictal EEGs were recorded with depth electrodes, and simultaneous recordings of scalp and intracranial EEG were performed in 11 patients. Scalp EEG showed that, in all 30 patients with MTLE (71 of 72 seizures), an attenuation of background activity was observed before the appearance of ictal activity. Ictal discharges first appeared in the scalp EEG when the ictal discharges reached the lateral part of the temporal lobe on the intracranial EEG. While, in all eight patients with LTLE (25 of 25 seizures), the attenuation of background activity did not occur before the appearance of ictal activity. When the ictal discharges started in the lateral temporal lobe on intracranial EEG, ictal discharges appeared on the scalp. MTLE and LTLE could be diagnosed by the presence or absence of attenuation of background activity with clinical ictal signs before the appearance of ictal discharges.

Adolescent↗

PubMed2002

The masked onset priming effect in naming: computation of phonology or speech planning?

We investigated factors that modulate the presence of the masked onset priming effect in three naming experiments. In Experiment 1, we showed that the masked onset priming effect is found with regular words, but not with exception words, replicating the finding reported by Forster and Davis (1991). In Experiment 2, we used the conditional naming task in which words are mixed with nonwords and participants are instructed to name the item only if it is a word. The masked onset priming effect was eliminated in this experiment, but the regularity effect remained. In Experiment 3, regular and irregular words were mixed randomly, rather than in separate blocks as in Experiment 1. This reduced the size of the regularity effect, and the masked onset priming effect was again absent. We argue that these results, taken as a whole, are better interpreted within the view that the masked onset priming effect has its origin in the preparation of a speech response, rather than within the original dual-route interpretation proposed by Forster and Davis.

Electronic Data Processing↗

PubMed2002

Effects of filler type in naming: change in time criterion or attentional control of pathways?

We report two naming experiments examining the effects of filler type on the size of regularity and frequency effects. Low-frequency exception words were used as one filler type in both experiments. Their effects were contrasted with the effects of nonword fillers (Experiment 1) and low-frequency regular word fillers (Experiment 2). In both experiments, the size of the regularity effect was unaffected by the filler type manipulation. In contrast, the frequency effect interacted with filler type such that relative to the low-frequency exception filler environment, the size of the frequency effect was reduced in the environment of low frequency regular word fillers, but not in the environment of nonword fillers. These results appear to be better explained in terms of Lupker, Brown, and Colombo's (1997) flexible time-criterion framework than in terms of a pathway control hypothesis (e.g., Zevin & Balota, 2000).

Analysis of Variance↗

PubMed2002

[Genetic background of Japanese thrombophilia].

Coagulation Factor V Leiden has not been detected in Japanese patients suffering from thromboses. The genetic background of Japanese thrombotic patients has never been systematically examined. We have performed a systematic investigation to ascertain genetic risk factors for thromboses in the Japanese population. According to our results, we recommend here useful gene analyses for Japanese thrombophilia.

Asian People↗