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Biomedical subjects

K Imai

Publications and source records attributed to K Imai.

At least 361 records · Page 20Linked to original sources
PubMed1999

Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination.

A Japanese boy with interstitial deletion of the long arm of chromosome 14, including band 14q31, is described. The characteristic dysmorphic facial features, such as dolichocephaly, bushy eyebrows, horizontal narrow palpebral fissures, long philtrum, etc, and mental and motor developmental delay were observed. Other characteristic clinical manifestations were anuresis and status nonepileptic myoclonia The finding of delayed myelination of the cerebral white matter was observed on magnetic resonance examination, suggesting that an unknown factor related to myelination in the central nervous system might be localized in band 14q31.

Abnormalities, Multiple↗
PubMed1999

Pax1 and Pax9 synergistically regulate vertebral column development.

The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family. They encode closely related transcription factors and are expressed in similar patterns during mouse embryogenesis, suggesting that Pax1 and Pax9 act in similar developmental pathways. We have recently shown that mice homozygous for a defined Pax1 null allele exhibit morphological abnormalities of the axial skeleton, which is not affected in homozygous Pax9 mutants. To investigate a potential interaction of the two genes, we analysed Pax1/Pax9 double mutant mice. These mutants completely lack the medial derivatives of the sclerotomes, the vertebral bodies, intervertebral discs and the proximal parts of the ribs. This phenotype is much more severe than that of Pax1 single homozygous mutants. In contrast, the neural arches, which are derived from the lateral regions of the sclerotomes, are formed. The analysis of Pax9 expression in compound mutants indicates that both spatial expansion and upregulation of Pax9 expression account for its compensatory function during sclerotome development in the absence of Pax1. In Pax1/Pax9 double homozygous mutants, formation and anteroposterior polarity of sclerotomes, as well as induction of a chondrocyte-specific cell lineage, appear normal. However, instead of a segmental arrangement of vertebrae and intervertebral disc anlagen, a loose mesenchyme surrounding the notochord is formed. The gradual loss of Sox9 and Collagen II expression in this mesenchyme indicates that the sclerotomes are prevented from undergoing chondrogenesis. The first detectable defect is a low rate of cell proliferation in the ventromedial regions of the sclerotomes after sclerotome formation but before mesenchymal condensation normally occurs. At later stages, an increased number of cells undergoing apoptosis further reduces the area normally forming vertebrae and intervertebral discs. Our results reveal functional redundancy between Pax1 and Pax9 during vertebral column development and identify an early role of Pax1 and Pax9 in the control of cell proliferation during early sclerotome development. In addition, our data indicate that the development of medial and lateral elements of vertebrae is regulated by distinct genetic pathways.

Animals↗
PubMed1999

Membrane-bound cell surface peptidases in reproductive organs.

Membrane-bound cell surface peptidases including aminopeptidase-N (EC 3.4.11.2), dipeptidyl peptidases IV (EC.3.4.14.5), carboxypeptidase-M (EC 3.4.17.12), neutral endopeptidase (EC 3.4.24.11) and endothelin converting enzyme-1 (EC 3.4.23) were shown to be differently expressed on human ovarian granulosa, theca interna and luteal cells and on endometrial epithelial and stromal cells. These peptidases have their catalytic sites extracellularly and can metabolize biologically active peptides at the cell surface, serving as local regulators of peptide concentrations. In the ovary and endometrium, numerous peptides are considered to be locally produced and play an important role in the follicular growth, ovulation, corpus luteum function, endometrial differentiation and embryo implantation in an autocrine and/or paracrine fashion. The inhibition of aminopeptidase activity by bestatin affected murine follicular growth, steroidogenesis by porcine ovarian cells and progesterone-induced decidualization of human endometrial stromal cells in vivo or in vitro. These findings suggest that membrane-bound peptidases are important regulators of the function and differentiation of the ovarian cells and endometrial cells including embryo. In the near future, the physiological roles of these peptidases will be clarified and clinical use of peptidase inhibitors may be applied to the various reproductive disorders.

Animals↗
PubMed1999

Urinary excretion of type I collagen cross-linked N-telopeptides, bone mass and related lifestyle in middle-aged women.

The relationship between past and present lifestyle and urinary excretion of type I collagen cross-linked N-telopeptides (NTx) was studied in 61 Japanese females aged 34-59, with a view toward using NTx excretion rates as a predictor of future osteoporosis. Bone mineral density (BMD) of the lumbar spine, the speed of sound (SOS) and broadband ultrasound attenuation (BUA) of the os calcis, urinary NTx, serum osteocalcin (BGP) and bone-specific alkaline phosphatase (BAP) were measured. Stiffness index (stiffness) was calculated from SOS and BUA. The subjects were asked whether they took regular exercise in their childhood and teen years (in elementary, junior-high, senior-high school and college), the past (20-40 years of age) and present adulthood. Regular calcium intake, smoking habits, alcohol and other beverage consumption and milk consumption were also covered in the questionnaire. The mean NTx values of premenopausal and postmenopausal group were 22.2 and 56.0 nM bone collagen equivalents (BCE)/mM urinary creatinine (Cr), respectively. The group which did not exercise regularly between the ages of 20 and 40 had a higher mean NTx value (40.9 nMBCE/mMCr) than the group which did exercise regularly (22.7 nMBCE/mMCr). In multiple regression analyses, age, stiffness and exercise in past adulthood could explain 43.5% of the NTx variance. For prevention of bone metabolic increases around menopause, habitual exercise in early adulthood seems to be effective.

Adult↗
PubMed1999

Automatic measurement of the red cell oxygen dissociation curve identical with the whole blood curve.

Automatic measurement of the entire oxygen dissociation curve (ODC) of blood and hemoglobin provides a useful means for evaluating their gas-transport function. The automatic oxygenation apparatus previously developed by Imai et al. (1970, 1981), which uses a polarographic determination of partial pressure of oxygen and a spectrophotometric determination of oxygen saturation of hemoglobin, has mostly been used for the measurement of accurate ODCs of hemoglobin solution. However, it was not suitable for red cell suspension because a significant noise was superimposed on the absorbance signal due to light-scattering by red cells. In the present study, we have overcome this problem by using an integrating sphere for the photometric system. Through extensive tests we found the optimal experimental conditions for obtaining the red cell oxygenation data that were identical with the whole blood data with respect to the position (oxygen affinity) and shape (sigmoid character) of the ODC and its pH-dependence (the Bohr effect). The accuracy was higher than that of commercially available automatic apparatuses such as the "Hemox-Analyzer" (Technical Consulting Service) and "Hem-O-Scan" (Aminco). Thus, our method provides an easy and convenient means for obtaining accurate ODCs mimicking the whole blood ODCs from one drop of whole blood. An application of our method to the effect of blood storage on ODC is presented, demonstrating the usefulness of our method.

Automation↗
PubMed1999

Reduction of operating time and blood transfusion for craniosynostosis by simulated surgery using three-dimensional solid models.

Preoperative planning of craniofacial synostosis can be achieved through the use of two- or three-dimensional (3D) computed tomography (CT) images and by 3D solid models. The advantage of using 3D models was evaluated by calculating the amount of blood transfused and the operating time for 36 craniosynostosis procedures, 21 planned with 3D models and 15 with CT images performed in the past 7 years. The use of 3D models reduced both blood loss and operating time for fronto-orbital advancement with reshaping, LeFort III advancement, and LeFort IV minus Glabellar advancement; blood loss for fronto-orbital advancement without reshaping; and operating time for total cranial reshaping.

Adolescent↗
PubMed1999

[IgM-lambda type monoclonal gammopathy of undetermined significance showing non-specific anti-streptolysin O activity by a latex immumoaggregation method].

We report a case of IgM-lambda type monoclonal gammopathy of undetermined significance showing non-specific anti-streptolysin O activity of extremely high level. An 83-year-old man developed high grade fever, cough and sputum. He was admitted to our hospital under a diagnosis of acute pneumonia by chest X-ray. He showed anti-streptolysin O (ASO) activity in extremely high level measured by a latex immunoaggregation method (LA-method). Although antibiotics cured the acute pneumonia, the ASO activity had remained in high level. Serum protein electrophoresis disclosed existence of M-protein and the M-protein was found to be IgM, lambda class by immunoelectrophoresis. The ASO activity measured by the LA method was ascribed to the M-protein because the level of M-component shown by the electrophoresis was decreased by absorption of the serum with streptolysin O-coated latex beads that were used in the LA-method. However, ASO activity measured by Rantzs-Randall method was in normal level. The ASO activity measured by the LA-method was absorbed with bovine serum albumin coated latex beads without streptolysin O. Therefore, it was concluded that the M-protein was not reacted with streptplysin O itself but was reacted with bovine serum albumin coated latex beads. The ASO activity of extremely high level in our case was non-specific reaction caused by the M-protein.

Aged↗
PubMed1999

Phytol induces programmed cell death in human lymphoid leukemia Molt 4B cells.

The exposure of human lymphoid leukemia Molt 4B cells to phytol which was isolated from Lolium multiflorum Lam and identified by MS, and 1H- and 13C-NMR, led to both growth inhibition and the induction of programmed cell death (apoptosis). Morphological change showing apoptotic bodies was observed in the cells treated with phytol. The fragmentation by phytol of DNA to oligonucleosomal-sized fragments that are characteristics of apoptosis was observed to be concentration- and time-dependent. These findings suggest that growth inhibition by phytol of Molt 4B cells results from the induction of apoptosis in the cells.

Apoptosis↗
PubMed1999

[Connatal type of Pelizaeus-Merzbacher disease: a case report].

Pelizaeus-Merzbacher disease (PMD) is a hereditary disorder with myelin dysplasia in the central nervous system. The connatal type is a more severe form compared to the classical type and shows developmental arrest or deterioration, nystagmus, spasticity, and/or convulsions in the neonatal period. A 1 1/4-year-old Japanese boy diagnosed as connatal type PMD is reported here. Soon after his birth, he demonstrated horizontal and rotatory nystagmus and opisthotonic posture. At the age of 10 months, he had difficulty in feeding. At the age of 1 year, he presented more severe opisthotonic posture and frequent vomiting. He showed deterioration in gross motor development. His chromosome analysis showed a normal male karyotype. Electroencephalogram did not show a sleep spindle. Auditory evoked brainstem responses (ABR) showed only wave I on both sides. Visual evoked potentials (VEP) showed prolongation of latencies. These results were compatible with PMD. Nuclear magnetic resonance imaging (MRI) demonstrated in the white matter of cerebrum and brainstem no high intensities on T1-weighted images and diffuse high intensities on T2-weighted images. Such absence of myelination including the brainstem was characteristic to the connatal type PMD. The diffuse disturbance of myelination appeared to correlate with the severity of clinical symptoms.

Brain↗
PubMed1999

[The origin of molecular disease: functional abnormalities and consequent clinical symptoms caused by single amino acid substitutions].

The discovery of sickle cell hemoglobin in 1949 lead to the concept of "molecular disease". Since then, the total number of abnormal hemoglobins has been increasing, reaching 750 in April, 1998. Of these, 91% are variants with single amino acid substitutions. A "scratch" made in the protein moiety can cause alterations in physicochemical properties such as oxygen affinity, stability and autooxidation of 50% of all variants, further causing hematological or clinical disorders with significant frequencies. Generally, these alterations in properties and consequent hematological or clinical disorders are closely related to the mode and intramolecular location of the mutation. Conventional laboratory methods for mass screening of abnormal hemoglobins such as electrophoresis, isoelectric focusing and ion-exchange HPLC may overlook clinically important variants which possess amino acid substitutions without change in the charge. Oxygen affinity measurement may be a useful method to detect silent variants. Modern apparatuses can quickly and conveniently construct a continuous oxygen dissociation curve from one drop of whole blood. The dissociation curve becomes biphasic when the red cell contains abnormal hemoglobin with abnormal oxygen affinity. The continuous curve recording is advantageous because the proportion of the abnormal hemoglobin component can be estimated and the abnormal chain, either alpha or beta, can be predicted based on the inflection point of the biphasic curve.

Amino Acid Substitution↗
PubMed1999

Identification and characterization of maternally expressed genes with mRNAs that are segregated with the endoplasm of early ascidian embryos.

Endoderm cells of the ascidian embryo are specified autonomously dependent on maternal cytoplasmic information or determinants that are localized in the endoplasm. In the present study, we identified three maternally expressed genes (CsEndo-1, CsEndo-2 and CsEndo-3) by screening a cDNA library of Ciona savignyi fertilized egg mRNAs subtracted with gastrula mRNAs. CsEndo-1 encoded a protein with nuclear localization signals, CsEndo-3 predicted a protein containing both a potential transmembrane domain and the PDZ domain, and CsEndo-2 suggested a protein with no similarity to known proteins. The maternal transcripts of all of these genes were not concentrated during early stages of embryogenesis up to the 8-cell stage, but were concentrated at the endoplasmic region by the 16-cell stage and then segregated later with the endoplasm. At the 110-cell stage, the maternal transcript of CsEndo-1 was evident only in the primordial endoderm cells, while those of CsEndo-2 and CsEndo-3 were found in the primordial endoderm cells as well as the primordial notochord cells. All of the transcripts became barely detectable during gastrulation and neurulation. Later, zygotic expression of the three genes became evident again in the endoderm and notochord cells, suggesting developmental roles in the formation of these types of cell. Although we were not able to deduce their functions, this is the first report of maternal genes with mRNAs that are segregated with the endoplasm of ascidian embryos.

Amino Acid Sequence↗
PubMed1999

Possibility of focal activation around the left upper pulmonary vein during chronic atrial fibrillation with mitral valve disease.

Focal regular activations were sometimes observed during chronic atrial fibrillation (AF) associated with mitral valve disease. We present a 58 year-old male diagnosed with mitral valvular stenosis and regurgitation with chronic atrial fibrillation. Intraoperative mapping of both atria was performed during mitral valvular surgery. Regular and repetitive activations around the left superior pulmonary vein were observed, in contrast to irregular and chaotic activations of the right atrium. This regular activation was supposed to be the focus of chronic AF. Surgical ablation of the posterior left atrium was successfully performed and eliminated the chronic AF, concomitant with mitral valve replacement.

Atrial Fibrillation↗
PubMed1999

Frequent Bax frameshift mutations in gastric cancer with high but not low microsatellite instability.

Widespread microsatellite instability (MSI) due to the defective DNA mismatch repair underlies the pathogenesis of the majority of hereditary non-polyposis colorectal cancer and a subset of various sporadic malignant tumors. Using 5 microsatellite markers and the criteria of MSI proposed by the National Cancer Institute (NCI) workshop, we analyzed 205 gastric adenocarcinomas for MSI. Based on the number of markers showing instability per tumor, the tumors were divided into three groups; those with two or more of the five markers displaying instability (high MSI, MSI-H), those with one of five markers displaying instability (low MSI, MSI-L), and those with no instability (microsatellite stable, MSS). Among 205 tumors, 30 (15%) were MSI-H, 15 (7%) were MSI-L, and 160 (78%) were MSS. All of the 30 MSI-H tumors demonstrated instability at BAT26, a sensitive marker for the widespread MSI, while none of the 15 MSI-L tumors did. MSI-H tumors were significantly associated with distal location and well or moderate differentiation, but MSI-L tumors were indistinguishable from MSS tumors. Bax frameshift mutations were detected in 60% of the 30 MSI-H tumors, while not in any of the 15 MSI-L tumors. These results suggest that microsatellite analysis using the criteria proposed by the NCI workshop may be appropriate for gastric cancers because it unveils real differences in genotype and phenotype.

Adenocarcinoma↗
PubMed1999

Proton MR spectroscopy of Sjögren-Larsson's syndrome.

We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjögren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two abnormal spectral peaks were seen in high-intensity areas on T2-weighted images and also in basal ganglia of normal intensities. 1H-MRS may be useful for establishing the diagnosis and investigating the natural history of SLS, and for evaluating the efficacy of therapeutic approaches to SLS.

Aldehyde Oxidoreductases↗