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H Ohashi

Publications and source records attributed to H Ohashi.

At least 37 records · Page 2Linked to original sources
PubMed2002

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↗
PubMed2002

[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↗
PubMed2001

[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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

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↗
PubMed2001

Craniofacial and dental characteristics of Kabuki syndrome.

We describe oral manifestations in six patients (three females and three males aged 6 to 24 years) with Kabuki syndrome (KS), based on their physical, orthopantomographic, and cephalometric findings. All six patients had a high-arched palate, malocclusion, most commonly unilateral posterior cross-bite (5/6), severe maxillary recession and mid-facial hypoplasia. Other frequently observed oral manifestations included small dental arch and hypodontia. Three patients lacked permanent teeth, mostly the central/lateral incisors. Both tooth size (in primary and permanent teeth) and dental arch (in length and width) tended to be small. We would like to stress that oral care and management is a must for the well-being of KS patients.

Adolescent↗
PubMed2001

Phylogeny and biogeography of the genus Lycium (Solanaceae): inferences from chloroplast DNA sequences.

Lycium comprises approximately 70 species and is disjunctly distributed in temperate to subtropical regions in South America, North America, southern Africa, Eurasia, and Australia. Among them, only Lycium sandwicense A. Gray sporadically occurs widely on oceanic islands in the Pacific Ocean. To investigate phylogenetic and biogeographic relationships of the genus with emphasis on L. sandwicense, the coding region of matK, the two intergenic spacers trnT (UGU)-trnL (UAA) and trnL (UAA)-trnF (GAA), and the trnL (UAA) intron of chloroplast DNA (cpDNA) were sequenced. A strict consensus tree resulting from the phylogenetic analysis indicates the following: (1) New World species comprise a potentially paraphyletic assemblage; (2) southern African, Australian, and Eurasian species together are monophyletic; (3) southern African species are a paraphyletic assemblage; and (4) L. sandwicense is in a clade with certain New World species. The estimated biogeographic events based on the cpDNA analysis indicate that (1) Lycium originated in the New World, (2) all southern African, Australian, and Eurasian species have a common ancestor from the New World, (3) Australian and Eurasian species originated once from a southern African progenitor, and (4) L. sandwicense differentiated from the New World species.

DNA, Chloroplast↗
PubMed2001

Ultrasound vasography evaluation of radial arterial grafts used for coronary arterial bypass surgery.

OBJECTIVES: For coronary bypass surgery, radial arteries are often used as bypass grafts. Some of these arteries however, have arteriosclerotic lesions. We attempted to evaluate the relationship between arteriosclerosis and vasodilation. METHODS: Prior to bypass surgery, 20 patients underwent ultrasound vasography to determine the condition of their radial and brachial arteries. Flow-mediated dilation, which is the same as endothelium-dependent vasodilation, was measured in the brachial artery of the nondominant arm by reactive hyperemia after 5-minute forearm ischemia. Vasodilation after application of a sublingual glyceryl trinitrate spray was also measured. RESULTS: During surgery, 4 of 20 radial arteries demonstrated calcification, and 3 of the 4 could be used by removing the calcified part. However, the other artery, which had extensive calcification that could not be detected by ultrasound vasography, was discarded. The amount of vasodilation seen after the administration of sublingual glyceryl trinitrate had no correlation with calcified grafts. Calcified radial arteries demonstrated significantly poor brachial artery vasodilation by an endothelial-dependent vasodilation test. CONCLUSIONS: Calcification in radial arteries can thus only be evaluated by flow-mediated dilation.

Aged↗
PubMed2001

Pedunculated hemangioma in the right ventricle.

We report a rare case of right ventricular hemangioma. In an asymptomatic 56-year-old man, echocardiography as a part of medical checkup demonstrated a pedunculated tumor, 1.0 x 1.3 x 1.5 cm, arising from the free wall of the right ventricle. No findings were seen of a feeding artery to the tumor or vascular blush in preoperative coronary angiography. Successful resection was done through right atriotomy under total cardiopulmonary bypass. The histological examination revealed capillary hemangioma. The postoperative clinical course was uneventful, but requires careful follow-up for possible coronary cardiac fistula. This is the fifth case of right ventricular hemangioma, to our knowledge, ever reported in Japan.

Heart Neoplasms↗
PubMed2001

Spondylar dysplasia in type X collagenopathy.

BACKGROUND: The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. OBJECTIVE: To elucidate whether or not spondylar dysplasia is common in patients with mutations of COL10A1. MATERIALS AND METHODS: We re-evaluated the radiological manifestations in six patients with mutations of COL10A1, who had been previously reported as having MDS. RESULTS: Two of six patients showed mild platyspondyly in infancy and early childhood. In both patients, the spondylar dysplasia tended to normalize with age, but mild alterations of the vertebral bodies persisted, even into late childhood. The other radiological manifestations of both patients were identical to those of MDS. CONCLUSION: Our observation suggests that mild spondylar dysplasia may not be uncommon in MDS.

Bones of Upper Extremity↗
PubMed2001

Possibility of "distraction arthrogenesis": first report in rabbit model.

We investigated the possibility of articular cartilage distraction for use in reconstructing joint structure and for increasing the donor site of osteochondral grafts. Intraarticular osteotomy was performed at the femoral condyle in 12 Japanese white rabbits. The bone segment was fixed with a specially designed external fixator. After a 3-week waiting period, distraction was performed intermittently for 3 weeks (0.7 mm x 3 times per week) in the distraction group (n = 7) and, in the remaining animals (gap group; n = 5), a gap of 6.3 mm in length was made at surgery. All rabbits received etidronate injections (20 mg/kg x2 times per week) for 5 weeks, to slow mineralization. The femoral condyle was harvested 9 weeks postoperatively and decalcified sagittal sections were stained and evaluated, using a histological grading scale. In the distraction group, distraction of 4.2 +/- 1.4 mm was achieved, and the distracted cartilage area was filled with regenerated cartilage, without any gap between the regenerated and the adjacent articular cartilage. This regenerated cartilage showed metachromasia with toluidine blue. In the gap group, newly formed cartilage tissue was folded from the edge of the osteotomy site and fibrous tissue was interposed in the gap. The histological grading score was significantly lower in the distraction group (P < 0.02). Our preliminary results demonstrated the possibility of cartilage distraction; however, long-term observation will be necessary to confirm the characteristics of the distracted cartilage. We may call the process "distraction arthrogenesis", because the entire articular entity, which consists of cartilage, subchondral bone, and bone, could be distracted at once.

Animals↗
PubMed2001

Plant regeneration from cell suspension-derived protoplasts of Primula malacoides and Primula obconica.

Protoplasts were isolated from cell suspension cultures of Primula malacoides cv. 'Lovely Tokyo' and P. obconica cv. 'Aalsmeer Giant White'. P. obconica protoplasts were embedded in 0.1% (w/v) gellan gum-solidified discs comprising MS medium supplemented with 3 mg/l of 2,4-D or picloram, 0.1 mg/l of zeatin, 0.2 M glucose and 0.2 M mannitol, and surrounded by a liquid medium of the same composition except for the addition of 0.1% (w/v) activated charcoal. The protoplasts formed visible colonies, which were transferred to the regeneration medium containing 30 g/l of sucrose, 0.1 mg/l of picloram and 2 mg/l of zeatin for shoot induction. P. malacoides protoplasts formed visible colonies when cultured in disc culture using 0.1% (w/v) gellan gum-solidified MS medium containing 5 mg/l of 2,4-D, 1 mg/l of NAA, 0.1 mg/l of zeatin and 0.4 M glucose. Small calli were transferred to MS medium supplemented with 5 mg/l of zeatin for shoot regeneration. The shoots of both species readily rooted on plant growth regulator-free 1/2 MS medium and successfully acclimatized to greenhouse conditions. The protoplast-derived plants showed some alterations in morphological characteristics from those of the in-vitro-germinated control plants.

Journal Article↗