Expression levels of DNA methyltransferase genes do not correlate with p15INK4B gene methylation in myelodysplastic syndromes.
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Bone Marrow↗
Biomedical subjects
H Ohashi
Publications and source records attributed to H Ohashi.
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
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Abnormalities, Multiple↗
[A successful treatment for myonephropathic metabolic syndrome after operation of acute aortic dissection (Stanford type A) with multiple organ ischemia].
A 60-year-old man had sudden chest pain and right lower extremity pain. A diagnosis of acute aortic dissection (Stanford type A) with right lower extremity ischemia was made. An emergency ascending aortic and total arch replacement, right axillo-femoral bypass, and coronary artery bypass grafting was performed for acute aortic dissection, acute right iliac arterial occlusion, and acute myocardial infarction. Myonephropathic metabolic syndrome (MNMS) occurred 2 days after operation. The serum creatine kinase value increased over 68,000 U/l, hemodiafiltration was started on the 2nd postoperative day (POD). The patient fell into anuric state and hemodiafiltration was performed 3 times a week. Urination was obtained over 1,000 ml/day from the 25th POD and hemodiafiltration was not necessary any more. We emphasize that prompt operation including revascularization of ischemic leg should be performed in acute aortic dissection with extremity ischemia and also prompt hemodiafiltration to improve the prognosis of these disastrous lesion.
Acute Disease↗
Interference effects in the resonant photoemission channels to the Ne+ 2p(4)(1D2)3p 2P, 2D, and 2F states in the Ne 1s excitation region.
We present measurements of total and partial photoionization cross sections of Ne in the 1s excitation region. The total cross section exhibits resonances with symmetric profiles, whereas the branching ratios to the Ne+ 2p(4)(1D2)3p 2P, 2D, and 2F states present strong oscillations in the interresonance regions. We prove that not only the interference between the direct and resonant ionization processes but also the interference among the ionization processes via different nonisolated resonances are important for this effect.
Journal Article↗
Inhibitory effects of organotin compounds on voltage-dependent, tetrodotoxin-resistant Na+ channel current in guinea pig dorsal root ganglion cells.
The effects of organotin compounds on voltage-dependent, tetrodotoxin (TTX)-resistant Na+ channel current (I(Na)) in single cells isolated from guinea pig dorsal root ganglion were investigated using a whole cell patch clamp technique. Extracellular application of tributyltin (TBT) inhibited I(Na) in a concentration-dependent manner with an IC50 of 7.2 microM. TBT (100 microM), when applied intracellularly, was without effect. Triphenyltin (TPT, 100 microM) and dibutyltin (DBT, 100 microM), applied extracellularly, inhibited I(Na) with an efficacy ranking of TBT>TPT>DBT. Monobutyltin (100 microM), whether applied externally or internally, had little effect on I(Na). TBT (30 microM) significantly prolonged both time to peak and half-decay time of I(Na) and shifted the activation curve of I(Na) in the positive direction without changing the slope. No such effect was produced by TPT (100 microM). The results indicate that organotin compounds inhibit voltage-dependent, TTX-resistant Na+ channel activity and suggest that the inhibitory action may account, at least in part, for their neurotoxic effects.
Animals↗
Anthropometry of the proximal tibia to design a total knee prosthesis for the Japanese population.
Anthropometric data on proximal tibiae of 100 knees in 80 Japanese patients undergoing total knee arthroplasty were obtained. Anterior-posterior (AP) and medial-lateral (ML) lengths of the tibia were measured on computed tomography scans and intraoperatively on tibial resection surfaces. A special small component is unnecessary, and size variation should focus on ML length of 65 to 75 mm because this includes 90% of women's knees. AP-to-ML ratio had a negative correlation with ML length, indicating that small knees were longer in the AP direction. Most prostheses had AP mismatch up to 5 mm for small women's knees. These data could provide the basis for designing the optimal tibial component for most of the Asian-Pacific population.
Aged↗
Bone anatomy and rotational alignment in total knee arthroplasty.
The purpose of the current study was to investigate the bone anatomy in determining the rotational alignment in total knee arthroplasty using computed tomography. Axial images of 109 knees in 83 patients with varus osteoarthritis who had total knee arthroplasty were analyzed. On the images of the distal femur and the proximal tibia, a baseline for the anteroposterior axis of each component was drawn based on the epicondylar axis for the femur and the medial (1/3) of the tibial tuberosity for the tibia. The angle between these two lines was analyzed as the rotational mismatch between the components when they were aligned to the anatomic landmarks of each bone. Fifty-four knees (49.5%) had an angle of 5 degrees or greater and 13 knees (11.9%) had an angle of 10 degrees or greater. There was a tendency to align the tibial component in external rotation relative to the femoral component. The results indicated that the landmarks of each bone were the intrinsic cause of the rotational mismatch in knees with varus osteoarthritis. Surgeons doing total knee arthroplasties should be aware of this and check the rotational mismatch between the components. When it is present, the tibial component should be realigned to match the femoral component rotation to minimize problems caused by the mismatch.
Aged↗
Refined mapping of the gene for otopalatodigital syndrome type I.
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Abnormalities, Multiple↗
The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females.
Turner syndrome females (45,X) do not have mental retardation (MR), whereas some mosaic ring X Turner syndrome females, with 45,X/46,X,r(X), have severe MR. The MR is believed to be caused by a failure of X chromosome inactivation (XCI) of the small ring X chromosome, which leads to functional X disomy (FXD), To explore this hypothesis, we examined the proportion of FXD cells in the peripheral blood of four ring X Turner syndrome females with various levels of MR, using two newly developed XCI assays based on DNA methylation of X-linked genes. As a result, the two patients with extremely severe MR showed complete FXD patterns, whereas the remaining two patients with relatively milder MR showed partial FXD patterns. These results indicate that the proportion of FXD cells may be associated with the severity of MR in mosaic ring X Turner syndrome females, although this association should be confirmed by examining brain cells during development. One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case.
Child↗
[Dor operation combined with redo coronary artery bypass grafting; report of two successful cases].
Case 1. A 69-year-old male, who had undergone coronary artery bypass grafting with saphenous vein graft for acute myocardial infarction 16 years previously, was admitted into our hospital for heart failure and recurrent angina. Coronary angiography showed occlusion of the graft and 75% stenosis in the proximal circumflex artery. Left ventriculography showed end-diastolic volume of 216 ml and ejection fraction of 24%. Dor operation combined with redo coronary artery bypass grafting was performed. Postoperatively, the ejection fraction improved to 53% and the cardiac index improved from 1.8 to 2.2 l/min/m2. Case 2. A 67-year-old male, who had undergone double coronary artery bypass grafting using saphenous vein grafts for acute myocardial infarction 8 years previously, was admitted into our hospital for heart failure and recurrent angina. Coronary angiography showed occlusion of the 2 grafts and 99% stenosis of the proximal left anterior descending artery. Although the left ventricle was slightly dilated, echocardiography demonstrated a thrombus in the left ventricle. Dor operation was performed concomitantly with removing of the thrombus and redo coronary artery bypass grafting. Postoperatively, the ejection fraction improved to 68% and the cardiac index improved from 1.6 to 2.3 l/min/m2. When the patients underwent coronary artery bypass surgery with saphenous vein grafts for acute myocardial infarction, they could be susceptible to left ventricular asynergy and graft failure on the long run. Therefore, the patients who need redo coronary revascularization may be potential candidates for Dor operation, and they require close examination regarding the myocardial viability, volume and shape of the left ventricle.
Aged↗
[On the usages of I'm there].
An English place adverb there basically does not refer to a place which belongs to the speaker's territory at the time of utterance. However, there is an expression, I'm there, which appears to violate this condition. I examine the usages of this expression as well as related expressions, which include a case where there indirectly identifies a place where the speaker is at the time of utterance, a case where it metaphorically refers to a "state", and an idiomatic usage meaning, "I will definitely go there."
Humans↗
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.
Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (alpha and beta) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST alpha coding region, and there were no significant mutations in the 5'-flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST alpha were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS.
5' Flanking Region↗
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
Pseudoachondroplasia (PSACH) is a common skeletal dysplasia characterized by disproportionate short stature, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. Multiple epiphyseal dysplasia (MED) is a similar but less severe disorder characterized by dysplasia of the epiphysis. Both disorders are caused by mutations in the cartilage oligomeric matrix protein (COMP) gene. COMP mutations cluster in a region of the gene that encodes calmodulin-like repeats (CLRs) and correlate closely with disease severity. Typically, mutations in exon 13 that composes the seventh CLR produce severe PSACH phenotypes, whereas mutations found elsewhere in the gene produce mild PSACH or MED phenotypes. We have identified a PSACH patient carrying a novel mutation in exon 18 of COMP that composes the C-terminal globular domain. This mutation produced a severe PSACH phenotype with marked short stature and deformities of the spine and extremities. Our results extend the range of disease-causing mutations within the COMP gene and demonstrate the importance of the additional domain of COMP protein in its in vivo function.
Achondroplasia↗
New lattice-Boltzmann model for magnetic fluids.
A new type of two-dimensional lattice-Boltzmann model is developed in order to study the rheological properties of magnetic fluids. The appropriate extension of the lattice-Boltzmann scheme for magnetohydrodynamics makes it possible to deal with the rotation of the magnetic moment without losing the advantage of its simple algorithm. This model is suitable for simulating various behaviors of magnetic fluids influenced by the internal angular momentum.
Journal Article↗
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-linked SEDL ascertained from different ethnic populations. Twenty-one different disease-associated mutations now have been identified throughout the SEDL gene. These include nonsense mutations in exons 4 and 5, missense mutations in exons 4 and 6, small (2-7 bp) and large (>1 kb) deletions, insertions, and putative splicing errors, with one splicing error due to a complex deletion/insertion mutation. Eight different frameshift mutations lead to a premature termination of translation and account for >43% (13/30) of SEDL cases, with half of these (7/13) being due to dinucleotide deletions. Altogether, deletions account for 57% (17/30) of all known SEDL mutations. Four recurrent mutations (IVS3+5G-->A, 157-158delAT, 191-192delTG, and 271-275delCAAGA) account for 43% (13/30) of confirmed SEDL cases. The results of haplotype analyses and the diverse ethnic origins of patients support recurrent mutations. Two patients with large deletions of SEDL exons were found, one with childhood onset of painful complications, the other relatively free of additional symptoms. However, we could not establish a clear genotype/phenotype correlation and therefore conclude that the complete unaltered SEDL-gene product is essential for normal bone growth. Molecular diagnosis can now be offered for presymptomatic testing of this disorder. Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty.
Base Sequence↗
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
CREB-binding protein (CBP) is a transcriptional coactivator that has intrinsic histone acetyltransferase (HAT) activity. CBP is the causative gene of Rubinstein-Taybi syndrome (RTS). To investigate the relationships between CBP HAT activity and RTS, we analyzed 16 RTS patients. A microdeletion was identified in one patient by fluorescent in situ hybridization analysis. Heteroallelic mutations were identified in five patients by reverse transcriptase-polymerase chain reaction-single-strand conformation polymorphism analysis and sequencing. These included a 2 bp deletion between nucleotides 4319 and 4320, an 11 bp deletion between nucleotides 4898 and 4908, a 14 bp insertion (CCTCGGTCCTGCAC) between nucleotides 5212 and 5213, a 2 bp deletion between nucleotides 5222 and 5223, and a missense mutation from guanine (G) to cytosine (C) at nucleotide 4951 that changed codon 1378 from CGG (arginine) to CCG (proline). The identical missense mutation was introduced into the recombinant mouse CBP. It abolished the HAT activity of CBP and the ability of CBP to transactivate cyclic AMP-response element binding protein (CREB), in HAT assays and in microinjection experiments, respectively. These results suggest that the loss of the HAT activity of CBP may cause RTS, as the first example of a defect of HAT activity in a human disease. Our findings raise the possibility that treatment of RTS patients with histone deacetylase inhibitors might have beneficial effects.
Acetyltransferases↗
Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.
A nine-month-old boy, with functional disomy for Xq26-qter and multiple congenital abnormalities, is reported. The boy had severe pre- and postnatal growth retardation, profound developmental delay, hypotonia, microcephaly, agenesis of the corpus callosum, dysmorphic facial features, cryptorchidism, and left multidysplastic kidney. He developed feeding difficulties and infantile spasms. G-banding analysis of his chromosomes showed additional material on the short arm of chromosome 21. His parents refused to submit to chromosome analysis. Analysis with chromosome microdissection followed by reverse and forward chromosome painting indicated his karyotype as 46,XY,der(21)t(X;21)(q26;p11.2). This is the first description of pure functional disomy for Xq26-qter due to an unbalanced X-autosome translocation.
Abnormalities, Multiple↗
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
The olfactory receptor (OR)-gene superfamily is the largest in the mammalian genome. Several of the human OR genes appear in clusters with > or = 10 members located on almost all human chromosomes, and some chromosomes contain more than one cluster. We demonstrate, by experimental and in silico data, that unequal crossovers between two OR gene clusters in 8p are responsible for the formation of three recurrent chromosome macrorearrangements and a submicroscopic inversion polymorphism. The first two macrorearrangements are the inverted duplication of 8p, inv dup(8p), which is associated with a distinct phenotype, and a supernumerary marker chromosome, +der(8)(8p23.1pter), which is also a recurrent rearrangement and is associated with minor anomalies. We demonstrate that it is the reciprocal of the inv dup(8p). The third macrorearrangment is a recurrent 8p23 interstitial deletion associated with heart defect. Since inv dup(8p)s originate consistently in maternal meiosis, we investigated the maternal chromosomes 8 in eight mothers of subjects with inv dup(8p) and in the mother of one subject with +der(8), by means of probes included between the two 8p-OR gene clusters. All the mothers were heterozygous for an 8p submicroscopic inversion that was delimited by the 8p-OR gene clusters and was present, in heterozygous state, in 26% of a population of European descent. Thus, inversion heterozygosity may cause susceptibility to unequal recombination, leading to the formation of the inv dup(8p) or to its reciprocal product, the +der(8p). After the Yp inversion polymorphism, which is the preferential background for the PRKX/PRKY translocation in XX males and XY females, the OR-8p inversion is the second genomic polymorphism that confers susceptibility to the formation of common chromosome rearrangements. Accordingly, it may be possible to develop a profile of the individual risk of having progeny with chromosome rearrangements.
Chromosome Breakage↗