[Diabetes mellitus with mitochondrial DNA tRNA(Leu)(UUR) mutation at 3256(C-T)].
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Biomedical subjects
Publications and source records attributed to M Hirai.
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>Objective: To determine whether maternal meal ingestion affects amniotic fluid index (AFI) over a short period after maternal meal ingestion in normal growth fetuses with normal amniotic fluid volume in uncomplicated late pregnancies.Methods: Twenty-five women with an appropriate-for-gestational-age fetus with normal AFI were included in a simple crossover, blinded study during late pregnancy. After an overnight fast, two different maternal meal states were prepared. On day A, the subjects had a standard 600-kcal breakfast at 8 a.m. On day B, the fasting state was maintained until 10 a.m. Both states were randomly assigned to each woman within 3 days. On both days, the AFI was measured at 7 a.m. (the fasting state) and at 10 a.m. (the fed state on day A and the continuous fasting state on day B). A change in AFI between 7 and 10 a.m. was compared between the days by paired t test.Results: The mean gestational age (mean +/- SD) was 37.5 +/- 1.5 weeks on day A and 37.4 +/- 1.6 weeks on day B. The change in AFI between 7 and 10 a.m. was 1.1 +/- 3.0 cm on day A (with breakfast) and 2.1 +/- 2.6 cm on day B (keeping fast). These changes were not different between the days (P = 0.19).Conclusions: Maternal meal ingestion had no apparent acute effect on AFI in normal growth fetuses with normal amniotic fluid volume.
Of 36 patients with malignant tumors who had been subjected to peripheral blood stem cell harvests (PBSCHs), 22 had undergone peripheral blood stem cell transplants (PBSCTs) since 1993. Flow cytometry recorded higher CD34+ cell yields in the PBSCHs of those patients with high white blood cell (WBC) counts as well as those who had been under intensive chemotherapy. Also, higher CD34+ cell yields were recorded in patients whose peripheral blood WBCs recovered more rapidly from their nadir state. WBC counts recovered rapidly in patients who received transfusions of at least 2.0 x 10(6) CD34+ cells/kg. However, patients with acute non-lymphocytic leukemia (ANLL) demonstrated a delayed recovery in their platelet counts following PBSCT. The mean disease-free survival rate and mean disease-free period were 60% and 12.8 months for the 5 patients with ANLL; and 100% and 11.3 months for the 4 patients with acute lymphocytic leukemia. These findings suggest PBSCT is a safe and effective treatment for patients with malignant tumors following high-dose chemotherapy, and can be performed in a private general hospital.
A 55-year-old woman was admitted because of progressive jaundice. Blood examination on admission revealed markedly elevated serum levels of CA19-9 and SPAN-1. Abdominal computed tomography revealed a large tumor in the head of the pancreas. Although the patient's jaundice and elevated CA19-9 decreased after percutaneous franshepatic cholangio-drainage, her SPAN-1 level remained elevated. Open biopsy of the pancreatic tumor revealed non-Hodgkin's lymphoma (NHL) (diffuse medium, B cell type), Complete remission was obtained after one course of CHOP therapy. This case suggests that pancreatic tumor with elevated serum CA19-9 and SPAN-1 levels may involve NHL, and may be curable with chemotherapy.
BACKGROUND: Self-adherent bandages are useful to prevent the bandage from becoming loose. However, the material binds tightly to itself to form a tight band, which may result in changes in interface pressure under the bandages during changes in posture and exercise, because the pressure depends on the elasticity of the bandages. The aim of this study was to compare the interface pressures under self-adherent and non-self adherent bandages while standing and during exercise. PATIENTS AND METHODS: In 20 normal volunteers the pressure was determined at the posteromedial area of the midcalf during lying, standing, tip-toe exercise and walking, using an Air Pack Type Analyzer. We examined two kinds of bandages with a maximal tension of 70%, self-adherent and non-self-adherent bandages. RESULTS: There was no significant increase in pressure observed during standing in comparison with pressure in the supine position immediately after application. A significant increase in pressure under both bandages was observed during tip-toe exercise and walking. However, there was no significant difference in pressure during standing or exercise between self-adherent and non-self-adherent bandages. Furthermore, there was no significant pressure difference between muscle contraction and relaxation between the two bandages. CONCLUSION: Self-adherent bandages can maintain their own elasticity, even when the material binds tightly to itself.
A clone of immature cDNA for human casein kinase I gamma 2 (CSNK1G2) was isolated by screening the human testis cDNA library with a PCR-amplified probe (about 400 bp) representing the kinase domain of rat casein kinase I gamma 2 (CKI gamma 2). Comparison of the entire sequence with that of rat CKI gamma 2 showed that the cDNA contained the complete coding sequence of CKI gamma 2 as well as an intron-like sequence of 1006 bp, part of which was homologous to the Alu sequence. To obtain an insertion-free CSNK1G2 cDNA, PCR cloning was performed based on the above sequence. The amplified 1687-bp fragment was subcloned and sequenced. The predicted amino acid sequence consisted of 416 residues, 94% of which were identical to that of the rat homologue. Although there are two Src homology 3 (SH3) domain-binding motifs (Pro-X-X-Pro consensus), Pro-Lys-Val-Pro and Pro-Ser-Glu-Pro in the C-terminal region of rat CKI gamma 2, only the latter was conserved in the human counterpart. This finding suggests that the latter motif is important for binding to the signal transduction adaptor protein Nck (NCK). The human CSNK1G2 gene was mapped to chromosome 19p13.3 by fluorescence in situ hybridization and PCR analysis of the human/rodent hybrid cell panel.
We report here a cDNA sequence of a murine homolog of the human major histocompatibility complex (MHC) class I-related gene, MR1. The analyses revealed unprecedentedly high conservation of MR1 in the alpha1 and alpha2 domains (corresponding to the peptide-binding domains in the classical MHC class I molecules) between human and mouse (predicted amino acid identity: 90 and 89% for the alpha1 and alpha2 domain, respectively), compared to MHC class I and other class I molecules. On the other hand, conservation in the alpha3 domain (73%) is comparable to those of others, suggesting domain-specific conservation of MR1. The localization of the mouse MR1 gene was determined to be chromosome 1H1, which corresponds to the human chromosomal region where the human MR1 gene is located (chromosome 1q25). High conservation of MR1 among mammals suggests that MR1 may be involved in critical conserved biological function(s).
Left ventricular (LV) hypertrophy, especially combined with an abnormal ST-T, is considered 1 of many coronary risk factors. Seven hundred forty-nine Japanese men were selected according to their electrocardiographic findings, i.e., normal electrocardiogram, LV hypertrophy without an abnormal ST-T segment, LV hypertrophy with a flat T wave, and LV hypertrophy with a negative T wave. Coronary risk factors were compared among these 4 age-matched groups. Groups with LV hypertrophy with negative or flat T waves had larger body mass index (24.9 vs 22.9 kg/m2), higher mean systemic blood pressure (111 vs 95 mm Hg), larger LV mass (265 vs 157 g), higher blood glucose (110 vs 100 mg/dl), higher serum triglyceride (148 vs 122 mg/dl), higher total cholesterol (206 vs 198 mg/dl), and lower high-density lipoprotein cholesterol (47 vs 54 mg/dl) than the normal group or the group with LV hypertrophy without T-wave change. Among these risk factors, blood pressure and glucose remained higher even after the adjustment by body mass index or by body mass index and blood pressure. Electrocardiographic LV hypertrophy with a changed T wave signified higher risk of coronary artery disease in Japanese men.
BACKGROUND: T-wave abnormalities after catheter ablation in patients with manifest Wolff-Parkinson-White (WPW) syndrome have been attributed to a continuation of repolarization abnormalities induced by preexcitation (cardiac memory). METHODS AND RESULTS: To clarify changes in repolarization properties, we analyzed the activation-recovery interval (ARI) obtained from body-surface maps and the relationship between the activation time (AT) and ARI in 30 patients with WPW syndrome (group A, 18 patients with manifest left-sided accessory pathway; group B, 7 patients with manifest right-sided accessory pathway; and group C, 5 patients with concealed left-sided accessory pathway) before, 1 day after, and 1 week after ablation. The ARI significantly decreased 1 week after ablation compared with before and 1 day after ablation over the preexcited area in groups A and B. Correlation coefficients between the AT and ARI showed a significantly (P<.01) stronger inverse relationship before (r=-.58) and 1 week after (r=-.64) ablation than 1 day after ablation (r=-.46) in groups A and B. In group C, the ARI and correlation coefficients between the AT and ARI showed no significant changes. CONCLUSIONS: These findings suggest a prolongation of the action-potential duration over the preexcited area before and just after ablation as ventricular "electrical remodeling," a decrease in the inverse relationship between the AT and action-potential duration 1 day after ablation, and a gradual recovery of the action-potential duration over the preexcited area and inverse relationship 1 week after ablation.
BACKGROUND: We assessed the hypothesis that the baroreflex and the autonomic nervous system are important in the control of the circadian rhythms of cardiovascular functions. METHODS AND RESULTS: We continuously measured blood pressure (BP), heart rate (HR), and locomotor activity in sinoaortic denervated (SAD), sympathectomized, and atropine-injected rats by use of a radiotelemetry system. The circadian rhythm of mean blood pressure (MBP) was selectively disrupted in SAD rats under 12-hour light-dark (LD12:12) cycles as a result of an increase in MBP during the light period and disappeared under constant darkness (DD). The locomotor activity and HR were not remarkably affected by SAD. The circadian rhythm of MBP was suppressed in sympathectomized rats by a decrease in the MBP during the dark period, and the abrupt changes in MBP when the lighting was altered were not seen under LD. Under DD, an MBP rhythm similar to that observed under LD was obtained. Sympathectomized rats also showed lower HR levels during the dark period than intact rats under LD cycles. In atropine-injected rats, the MBP and HR increased, especially during the light period, resulting in a reduction of light-dark differences in MBP and HR. The locomotor activity showed an apparent 24-hour variation in the sympathectomized and atropine-injected rats. CONCLUSIONS: The disruption of the baroreflex selectively eliminates the circadian rhythm of BP, and the circadian rhythms of BP and HR are modulated by the autonomic nervous system in rats. The circadian rhythms of BP and HR are regulated by different mechanisms involving the autonomic nervous system.
A systematic screen termed the allelic message display (AMD) was developed for the hunting of imprinted genes. In AMD, differential display PCR is adopted to image allelic expression status of multiple polymorphic transcripts in two parental mouse strains, reciprocal F1 hybrids and pooled backcross progenies. From the displayed patterns, paternally and maternally expressed transcripts can be unequivocally identified. The effectiveness of AMD screening was clearly demonstrated by the identification of a paternally expressed gene Impact on mouse chromosome 18, the predicted product of which belongs to the YCR59c/yigZ hypothetical protein family composed of yeast and bacterial proteins with currently unknown function. In contrast with previous screening methods necessitating positional cloning efforts or generation of parthenogenetic embryos, this approach requires nothing particular but appropriately crossed mice and can be readily applied to any tissues at various developmental stages. Hence, AMD would considerably accelerate the identification of imprinted genes playing pivotal roles in mammalian development and the pathogenesis of various diseases.
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P-Glycoprotein-mediated transcellular transport and intracellular accumulation of [3H]daunorubicin were examined in cell monolayers with different levels of P-glycoprotein. The porcine kidney epithelial cell line LLC-PK1 was transfected with MDR1 cDNA, and four sublines, LLC-GA5, LLC-GA5-VLB4, LLC-GA5-COL10, and LLC-GA5-COL150, were obtained by culturing the cells in the absence or in the presence of 4 ng/mL vinblastine, 10 ng/mL colchicine, and 150 ng/mL colchicine, respectively. Western blot analysis showed a large difference in P-glycoprotein expression within these sublines. The degree of drug resistance was dependent on the expression level of P-glycoprotein. The amount of the unidirectional transport of [3H]daunorubicin by P-glycoprotein corresponded to the expression level of P-glycoprotein, which was followed by the decrease in intracellular accumulation of the agent. The concentration of cyclosporin A required for the inhibition of P-glycoprotein-mediated transport of [3H]daunorubicin was higher in cells with a high expression of P-glycoprotein. These findings suggest that the transport of daunorubicin by P-glycoprotein and its inhibition by cyclosporin A correspond to the expression level of P-glycoprotein.
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Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. We had mapped the FCMD gene to an approximately 5-cM interval between D9S127 and D9S2111 on 9q31-q33 and had also found evidence for linkage disequilibrium between FCMD and D9S306 in this candidate region. Through further analysis, we have defined another marker, D9S172, which showed stronger linkage disequilibrium than D9S306. A yeast artificial chromosome (YAC) contig spanning 3,5 Mb, which includes this D9S306-D9S172 interval on 9q31, has been constructed by a combination of sequence-tagged site, Alu-PCR, and restriction mapping. Also, cosmid clones subcloned from the YAC were assembled into three contigs, one of which contains D9S2107, which showed the strongest linkage disequilibrium with FCMD. These contigs also allowed us to order the markers as follows: cen-D9S127-(approximately 800 kb)-D9S306 (identical to D9S53)-(approximately 700 kb)-A107XF9-(approximately 500 kb)-D9S172-(approximately 30 kb)-D9S299 (identical to D9S774)-(approximately 120 kb)-WI2269-tel. Thus, we have constructed the first high-resolution physical map of the FCMD candidate region. The YAC and cosmid contigs established here will be a crucial resource for identification of the FCMD gene and other genes in this region.
Recently, a novel human major histocompatibility complex (MHC) class I-like gene (HLA-H) was reported as a candidate gene for human hereditary haemochromatosis, a recessive disease of iron metabolism with a remarkably high incidence in northern Europeans. Independently we have isolated this gene in the course of a search for new human MHC class I-related genes and named it MR2. Here we report a mouse homolog of this human gene. The mouse MR2 gene is similar to the human counterpart with an overall predicted amino acid sequence similarity of approximately 66% and it is expressed in various tissues as in human. The extra eight amino acid residues between the alpha1 and the alpha2 domains in the mouse molecule compared to the human counterpart can be explained by the creation of the coding sequence from the intron. While the human gene is located at the site telomeric to the MHC region on human chromosome 6, our study indicated the translocation of the mouse homolog from the site telomeric to the MHC on mouse chromosome 17 to chromosome 13 along with other genes. This mouse gene should be important in clarifying a possible role in iron metabolism.
OBJECTIVE: To examine whether maternal meal ingestion affects the fetal circulation in uncomplicated pregnancies. METHODS: A simple crossover blinded study was designed for late uncomplicated singleton pregnancies. After overnight fasting, two different maternal meal states were tested. In one state, pregnant women had a standard 600-kcal breakfast at 8 AM (phase A). The other state consisted of maintaining fasting (phase B). Both states were assigned to each woman within 3 days in randomized order. Fetal Doppler studies of the umbilical, middle cerebral, and renal arteries and the descending aorta were performed at 7 AM (the fasting state) and at 10 AM (the fed state or the continuous fasting state). RESULTS: Twenty women underwent the crossover study. Regardless of the maternal meal state, no significant change was observed in the pulsatility index (PI) of either the umbilical artery (n = 20), the middle cerebral artery (n = 19), or the descending aorta (n = 15). However, the PI of the fetal renal artery decreased significantly after maternal meal ingestion (n = 14) (phase A, 2.36 +/- 0.16 versus 2.09 +/- 0.33; P = .021). There was no such change in the PI after prolonged fasting (phase B, 2.44 +/- 0.32 versus 2.39 +/- 0.44; P = .75). CONCLUSION: Fetal renal artery resistance decreased after maternal meal ingestion in normally grown fetuses during late pregnancy. This decrease in the resistance may be associated with increased fetal urine production after maternal meals.
The effect of egg yolk extender on semen viscosity and bull sperm motility of fresh and cooled or deep frozen semen was determined by a computer-assisted system. Viscosity of the extender was determined by flow time. Based on the sperm velocity (velocity of the average path), individual spermatozoon were classified into groups of progressively motile (>==30 microm/sec) and immotile (<10 microm/sec) spermatozoa. The average velocity of progressively motile spermatozoa (VPM), the velocity of linear progressively motile spermatozoa (VLP) and the percentage of linear swimming spermatozoa (LIN) were evaluated. The addition of 10, 20 or 30% egg yolk to Tris buffer (pH 6.5) resulted in a linear decrease of VPM and a decrease in the percentage of progressively motile spermatozoa, but it increased the relative rate of LIN in fresh diluted semen. Increasing the levels of egg yolk in the diluent resulted in higher viscosity. The VLP was significantly higher than the VPM. In refrigerated or frozen semen samples, extender with 30 and 20% egg yolk had a similar effect on the VPM but not on the percentage of progressively motile sperm cells. Freezing of egg yolk (30%) extender to -20 degrees C resulted in a significant increased flow time and higher viscosity. Dilution of semen samples with high viscosity extender decreased the VPM in fresh and chilled semen. Freezing semen of high viscosity extender with glycerol had no apparent effect on the percentage of progressively motile spermatozoa compared with that of non-glycerinated egg yolk extender. The results suggest that different concentrations of egg yolk in the extender can influence the parameters of semen viscosity and sperm motility evaluated by a computer-assisted system.