Publications by authors named "Shinichi Hirabayashi"

60 Publications

Activation of Methane by Tungsten Carbide and Nitride Cluster Cations.

J Phys Chem A 2020 Jul 18;124(26):5274-5279. Epub 2020 Jun 18.

Cluster Research Laboratory, Toyota Technological Institute: in East Tokyo Laboratory, Genesis Research Institute, Inc., 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

Gas-phase reactions of tungsten carbide and nitride cluster cations, WC ( = 1-5, ≤ 5) and WN ( = 1-6, ≤ 2), with methane are investigated at near thermal energies. Most of the clusters react readily with CH to form WCH or WNCH under single collision conditions, in contrast to the almost no reactivity of pure tungsten clusters. This result indicates that the introduction of carbon or nitrogen atoms can enhance the reactivity of tungsten clusters toward the CH dehydrogenation. In addition, the formation and the release of an ethylene molecule are strongly suggested in the reaction of WC with CH as a minor reaction channel. Nearly all the nitride cluster cations, WN ( ≥ 2), exhibit higher reactivity than their corresponding carbides, WC, whereas WN is less reactive than WC. Furthermore, the multiple collision reactions of the highly reactive tungsten nitride species such as WN and WN lead to the formation of WNCH ( = 2, 3), which shows that the dehydrogenation of more than one CH molecule occurs.
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http://dx.doi.org/10.1021/acs.jpca.0c00749DOI Listing
July 2020

A novel pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 187-8551, Japan.

Intellectual disability (ID) is a clinically and genetically heterogeneous developmental brain disorder. The present study describes two male siblings, aged 7 and 1 yr old, with severe ID, spastic quadriplegia, nystagmus, and brain atrophy with acquired microcephaly. We used the exome sequencing to identify the causative gene in the patients and identified a hemizygous missense variant, c.1282T>A (p.W428R), in the p21-activated serine/threonine kinase 3 gene (), which is associated with X-linked ID. p.W428R is located within the highly conserved kinase domain and was predicted to induce loss of enzymatic function by three mutation prediction tools (SIFT, PolyPhen-2, and MutationTaster). In addition, this variant has not been reported in public databases (as of the middle of December 2018) or in the data from 3275 individuals of the Japanese general population analyzed using high-depth whole-genome sequencing. To date, only 13 point mutations and deletions in in ID have been reported. The literature review illustrated a phenotypic spectrum of pathogenic variant, and our cases represented the most severe form of the -associated phenotypes. This is the first report of a pathogenic variant in Japanese patients with X-linked ID.
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http://dx.doi.org/10.1101/mcs.a003988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913141PMC
December 2019

Dehydrogenation of Methane by Partially Oxidized Tungsten Cluster Cations: High Reactivity Comparable to That of Platinum Cluster Cations.

J Phys Chem A 2019 Aug 1;123(32):6840-6847. Epub 2019 Aug 1.

Cluster Research Laboratory , Toyota Technological Institute: in East Tokyo Laboratory, Genesis Research Institute, Inc. , 717-86 Futamata , Ichikawa , Chiba 272-0001 , Japan.

Gas-phase reactivity of pure and partially oxidized tungsten atomic and cluster cations, W ( = 1-6) and WO ( = 1-5, ≤ 6), with methane is studied at the collision energies from 0.1 to 1.0 eV under single collision conditions. The dehydrogenation of CH (i.e., the release of H) is observed for most of WO, whereas W ( ≥ 2) are almost unreactive. This result indicates that the reactivity of tungsten clusters can be enhanced by the addition of oxygen atoms. Moreover, the reaction cross section of WO strongly depends on the cluster composition, and some clusters such as WO, WO, WO, and WO exhibit high reactivity. It turns out that the reactivity of these clusters is roughly comparable to that of the typical platinum cluster cations, which are one of the most reactive clusters toward methane dehydrogenation. The reactivity of W and WO toward CH can be explained by a simple model of their orbital energies and the potential energy diagrams obtained by using the density functional theory calculations. The calculations also suggest that the oxygen atom(s) in WO is like a spectator and the formation of a hydroxyl group is not necessary for the cleavage of C-H bonds in CH.
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http://dx.doi.org/10.1021/acs.jpca.9b04606DOI Listing
August 2019

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nat Commun 2019 06 7;10(1):2506. Epub 2019 Jun 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases and 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique to an individual are significantly overrepresented in EE/DEE, both in known EE/DEE genes and the other non-EE/DEE genes. Importantly, enrichment of dURVs in non-EE/DEE genes is significant, even in the subset of cases with diagnostic dURVs (P = 0.000215), suggesting oligogenic contribution of non-EE/DEE gene dURVs. Gene-based analysis identifies exome-wide significant (P = 2.04 × 10) enrichment of damaging de novo mutations in NF1, a gene primarily linked to neurofibromatosis, in infantile spasm. Together with accumulating evidence for roles of oligogenic or modifier variants in severe neurodevelopmental disorders, our results highlight genetic complexity in EE/DEE, and indicate that EE/DEE is not an aggregate of simple Mendelian disorders.
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http://dx.doi.org/10.1038/s41467-019-10482-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555845PMC
June 2019

Reply: Evaluation of In Vivo Kinetics and Biostimulatory Effects of Subcutaneously Injected Hyaluronic Acid Filler.

Plast Reconstr Surg 2019 03;143(3):659e-660e

Department of Plastic, Oral and Maxillofacial Surgery, Teikyo University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1097/PRS.0000000000005333DOI Listing
March 2019

Evaluation of the In Vivo Kinetics and Biostimulatory Effects of Subcutaneously Injected Hyaluronic Acid Filler.

Plast Reconstr Surg 2018 07;142(1):112-121

From the Departments of Plastic, Oral and Maxillofacial Surgery and Plastic Surgery, Teikyo University School of Medicine; and University Hospital, Mizonokuchi.

Background: Because subcutaneously injected hyaluronic acid filler is absorbed over 6 months to 1 year after the treatment of facial wrinkles, frequent retreatment may be required. However, persistent long-term effects are often clinically observed when hyaluronic acid filler is injected as a bolus for facial augmentation. Therefore, the authors investigated, over time, the changes in volume and histologic features of subcutaneous bolus injections of hyaluronic acid.

Methods: Hyaluronic acid filler was subcutaneously injected as a bolus into the dorsum of 6-week-old rats. At several time points (immediately after injection and 4, 8, 16, 32, and 64 weeks thereafter), magnetic resonance imaging was introduced to observe morphologic changes and to measure volume. Histologic examination of sectioned tissues was also performed.

Results: The average volume increased for up to 4 weeks after injection and then gradually decreased, with 74.8 percent of the injected volume remaining after 64 weeks, with no statistical difference compared to the initial volume. Histologic analysis revealed that lattice structures were created by fibroblasts and collagen fibers, and blood vessels and adipocytes were also generated in the filler.

Conclusions: Although subcutaneous bolus injections of hyaluronic acid filler exhibited flattening, the total volume was maintained even after 64 weeks. Histologically, hyaluronic acid filler acted as a scaffold for autogenous tissue replacement by means of fibroblast migration and proliferation, collagen induction, and angiogenesis, followed by proliferation of adipocytes. This study demonstrates that the total volume is maintained long-term by replacing part of the injected hyaluronic acid filler with autologous tissues.
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http://dx.doi.org/10.1097/PRS.0000000000004496DOI Listing
July 2018

Gas-Phase Reactions of Copper Oxide Cluster Cations with Ammonia: Selective Catalytic Oxidation to Nitrogen and Water Molecules.

J Phys Chem A 2018 May 21;122(21):4801-4807. Epub 2018 May 21.

Cluster Research Laboratory, Toyota Technological Institute: in East Tokyo Laboratory , Genesis Research Institute, Inc. , 717-86 Futamata , Ichikawa , Chiba 272-0001 , Japan.

Reactions of copper oxide cluster cations, Cu O ( n = 3-7; m ≤ 5), with ammonia, NH, are studied at near thermal energies using a guided ion beam tandem mass spectrometer. The single-collision reactions of specific clusters such as CuO, CuO, CuO, CuO, and CuO give rise to the release of HO after NH adsorption efficiently and result in the formation of Cu O NH. These Cu O clusters commonly have Cu average oxidation numbers of 1.0-1.4. On the other hand, the formation of Cu O H, i.e., the release of HNO, is dominantly observed for CuO with a higher Cu oxidation number. Density functional theory calculations are performed for the reaction CuO + NH → CuONH + HO as a typical example of HO release. The calculations show that this reaction occurs almost thermoneutrally, consistent with the experimental observation. Further, our experimental studies indicate that the multiple-collision reactions of CuO and CuO with NH lead to the production of Cu and CuO, respectively. This suggests that the desirable NH oxidation to N and HO proceeds on these clusters.
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http://dx.doi.org/10.1021/acs.jpca.8b03017DOI Listing
May 2018

Early prognostic factors for acute encephalopathy with reduced subcortical diffusion.

Brain Dev 2018 Sep 30;40(8):707-713. Epub 2018 Apr 30.

Division of Neurology, Nagano Children's Hospital, Japan.

Objective: The aim of this study was to determine the prognostic factors for acute encephalopathy with reduced diffusion (AED) during the acute phase through retrospective case evaluation.

Methods: The participants included 23 patients with AED. The diagnosis of AED was based on their clinical course and radiological findings. We divided the patients into severe and non-severe groups based on the neurodevelopmental outcome. The severe group included seven patients (median age, 21 months; range, 6-87 months) and the non-severe group included 16 patients (19 months, 9-58 months). Clinical symptoms, laboratory data and electroencephalogram (EEG) findings within 48 h from the initial seizure onset were compared between the two groups to identify neurological outcome predictors.

Results: The incidence of coma 12-24 h after onset, serum creatinine (Cr) levels within 2 h after onset, maximum aspartate aminotransferase (AST) levels within 24 h after onset, and the rate of electrographic seizures in EEG were significantly higher in the severe group (Coma, 80%; Cr, 0.40 mg/dl, 0.37-0.73; AST, 363 IU/L, 104-662; electrographic seizures, 80%) than the non-severe group (Coma, 0%; Cr, 0.29 mg/dL, 0.19-0.45; AST, 58.5 IU/L, 30-386; electrographic seizures, 0%).

Conclusions: Coma 12-24 h after onset, elevation of Cr levels within 2 h after onset, elevation of AST levels within 24 h after onset, and non-convulsive status epileptics (NCSE) in comatose patients were early predictors of severe AED. Patients in a coma after a febrile seizure should be checked for NCSE signs in EEG to terminate NCSE without delay.
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http://dx.doi.org/10.1016/j.braindev.2018.04.005DOI Listing
September 2018

Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case Report.

JBJS Case Connect 2018 Apr-Jun;8(2):e22

Departments of Orthopaedic Surgery (D.K., Y.N., T.S., and H.K.) and Medical Genetics (T.K.) and Third Department of Medicine (A.N.), Shinshu University School of Medicine, Matsumoto, Japan.

Case: We report the case of a 13-year-old boy with Duchenne muscular dystrophy (DMD) who sustained bilateral femoral neck fractures associated with glucocorticoid-induced osteoporosis. Denosumab therapy for 18 months markedly improved the lumbar bone mineral density and the bone turnover markers. No fractures or complications were recorded during the treatment period.

Conclusion: To the best of our knowledge, this is the first description of denosumab treatment for glucocorticoid-induced osteoporosis in a patient with DMD. The drug merits additional testing as an effective therapy for osteoporosis in patients with DMD.
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http://dx.doi.org/10.2106/JBJS.CC.17.00190DOI Listing
November 2019

Effects of Second-Metal (Al, V, Co) Doping on the NO Reactivity of Small Rhodium Cluster Cations.

J Phys Chem A 2017 Apr 28;121(13):2545-2551. Epub 2017 Mar 28.

Cluster Research Laboratory, Toyota Technological Institute: in East Tokyo Laboratory, Genesis Research Institute, Inc. , 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

Reactions of pure and doped rhodium cluster cations, RhX (n = 2-6; X = Al, V, Co, Rh), with NO molecules were investigated at near-thermal energy using a guided ion beam tandem mass spectrometer. We found that the doping with Al and V increases the total reaction cross section mostly. Under single-collision conditions, RhX reacts with NO to produce RhN with release of metal monoxide, XO, whereas RhX (n = 3-6) adsorb NO. For the specific clusters RhAl (n = 3 and 4) and RhV (n = 4-6), the NO adsorption is often accompanied by the release of one Rh atom. In addition, we examined the reactions of RhX (X = Al, V, Co, Rh) with NO under multiple-collision conditions and observed the cluster dioxide formation and the N release, i.e., NO decomposition. Particularly, the V-doping is most effective for the NO decomposition. One possible explanation for the present results is that the formation of a stable dopant metal-oxygen bond directly leads to the increase of NO dissociative adsorption energy and the reduction of the energy barrier between the molecular and dissociative adsorption, thereby encouraging the NO decomposition on the small RhX clusters studied.
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http://dx.doi.org/10.1021/acs.jpca.6b11613DOI Listing
April 2017

Possibility of Using Standard Plates for Orbital Fracture.

J Craniofac Surg 2016 Oct;27(7):1735-1737

*Department of Plastic, Oral and Maxillofacial Surgery, Teikyo University School of Medicine †Department of Radiology, Teikyo University School of Medicine, Tokyo, Japan.

Objectives: Absorbable plates are sometimes grafted for treating orbital fractures. These plates cannot be readily processed to fit the shape of the fracture site, particularly when the fracture encompasses a broad area from the medial toward the inferior wall. Preparing the plates in a standard shape beforehand will be useful. Thus, in this study, the authors measured the orbital wall distance in healthy orbits to determine the mean orbital size with the ultimate goal of developing and clinically applying a standard plate for orbital fracture.

Methods: Measurements were performed for the left eye orbit on computed tomography images using a three-dimensional medical image processing workstation. The authors measured the orbital wall distances and angle of healthy orbits in 40 males and 40 females to determine the mean size of the orbit.

Results: In healthy orbits, no significant difference was noticeable in the angle between medial wall and inferior wall between males and females. The medial, inferior, and medial + inferior wall distances were markedly longer in males than in females (P < 0.05).

Discussions: The orbital shapes had the same pattern in males and females. The standard plate would be adaptable to all cases if it were produced with the medial wall + inferior wall distance greater than the maximum value in males and trimmed to fit the orbit form of the patient.

Conclusions: The results would be the basis of creating a standard plate and using it after appropriate adjustments.
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http://dx.doi.org/10.1097/SCS.0000000000002980DOI Listing
October 2016

Reactions of Ti- and V-Doped Cu Cluster Cations with Nitric Oxide and Oxygen: Size Dependence and Preferential NO Adsorption.

J Phys Chem A 2016 Mar 7;120(10):1637-43. Epub 2016 Mar 7.

Cluster Research Laboratory, Toyota Technological Institute: in East Tokyo Laboratory, Genesis Research Institute, Inc. , 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

Reactions of copper cluster cations doped with an early transition metal atom, CunTi(+) (n = 4-15) and CunV(+) (n = 5-14, 16), with NO and O2 were investigated at a near-thermal collision energy using a guided ion beam tandem mass spectrometer. Most of the clusters adsorb NO and O2 under single collision conditions, and this reaction is often followed by the release of Cu atoms. For both Ti- and V-doped Cu clusters, the total cross sections for the reaction with NO increase gradually with the cluster size up to n ≈ 11 and then decrease rapidly, whereas those with O2 are almost constant in n ≤ 12 and then decrease. The size dependence of the reactivity toward NO is found to correlate with that of the adsorption energy calculated by the density functional theory method; CunTi(+) clusters exhibit the larger reaction cross sections when they have the larger adsorption energies. The calculations of CunTi(+) also show that a structural transition from a Ti-exposed structure to Ti-encapsulated one occurs around n = 12. This indicates that a geometric property of the clusters, i.e., the position of the dopant atom, is a determining factor of reactivity. In addition, the Ti- and V-doping dramatically improves the reactivity of Cu cluster cations toward NO but it does not affect that toward O2 significantly. As a result, most of the Ti- and V-doped Cu clusters are more reactive toward NO than toward O2. We also studied the multiple-collision reaction of Cu7Ti(+) with NO and obtained the cluster dioxide, Cu3TiO2(+), as a product ion, which suggests that the dissociation of NO and the subsequent formation/release of N2 take place.
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http://dx.doi.org/10.1021/acs.jpca.6b00206DOI Listing
March 2016

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

J Hum Genet 2016 Jun 18;61(6):527-31. Epub 2016 Feb 18.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

Cerebellar atrophy is recognized in various types of childhood neurological disorders with clinical and genetic heterogeneity. Genetic analyses such as whole exome sequencing are useful for elucidating the genetic basis of these conditions. Pathological recessive mutations in Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS) have been reported in a total of 11 patients with pontocerebellar hypoplasia type 2, progressive cerebellocerebral atrophy or progressive encephalopathy, yet detailed clinical features are limited to only four patients. We identified two new families with progressive cerebellar atrophy, and by whole exome sequencing detected biallelic SEPSECS mutations: c.356A>G (p.Asn119Ser) and c.77delG (p.Arg26Profs*42) in family 1, and c.356A>G (p.Asn119Ser) and c.467G>A (p.Arg156Gln) in family 2. Their development was slightly delayed regardless of normal brain magnetic resonance imaging (MRI) in infancy. The progression of clinical symptoms in these families is evidently slower than in previously reported cases, and the cerebellar atrophy milder by brain MRI, indicating that SEPSECS mutations are also involved in milder late-onset cerebellar atrophy.
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http://dx.doi.org/10.1038/jhg.2016.9DOI Listing
June 2016

Stability of Aluminum-Doped Copper Cluster Cations and Their Reactivity toward NO and O2.

J Phys Chem A 2015 Aug 3;119(32):8557-64. Epub 2015 Aug 3.

‡Cluster Research Laboratory, Toyota Technological Institute: in East Tokyo Laboratory, Genesis Research Institute, Inc., 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

Aluminum-doped copper cluster cations, CunAl(+), were produced via an ion sputtering method and analyzed by mass spectrometry. The measured size distributions show that Cu6Al(+) and Cu18Al(+) are highly stable species, which can be understood in terms of the electronic subshell 1P and 2S closings, respectively. Furthermore, the reactions of size-selected CunAl(+) (n = 4-6 and 8-16) with NO and O2 were studied at near thermal energies by using a tandem-type mass spectrometer. The doping of an Al atom improves the reactivity of the clusters toward NO in particular for n = 9, 11, 13, and 15, whereas it does not change the reactivity toward O2 significantly. Consequently, it was found that CunAl(+) (n = 9, 11, 13 and 15) are more reactive toward NO than toward O2. The high reactivity of Cu9Al(+) toward NO compared to that of Cu10(+) is explained in terms of the increase of the adsorption energy and the lowering of the barrier to dissociative adsorption, with the aid of calculations based on density functional theory. Moreover, the multiple-collision reactions of CunAl(+) (n = 9, 11, and 13) with NO result in the production of cluster dioxides, Cun-3AlO2(+), (i.e., release of N2), which clearly indicates that NO decomposition proceeds on these clusters.
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http://dx.doi.org/10.1021/acs.jpca.5b04018DOI Listing
August 2015

Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).

Brain Dev 2016 Jan 23;38(1):118-23. Epub 2015 May 23.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Two siblings born to non-consanguineous parents showed nystagmus and sudden opistotonic posturing from the early infancy, and subsequent developmental delay and marked choreiform movements with hypotonia in the childhood. The brother had a mild postnatal microcephaly. Brain MRI of the sister showed mild delay of myelination, dilated anterior horn and mild cerebellar atrophy. Whole exome sequencing (WES) revealed compound heterozygous mutations in MED17 gene in both siblings: c.1013-5A>G and c.1484T>G mutations transmitted from their father and mother, respectively. The c.1013-5A>G mutation caused insertion of 4 bases of intron 6 in the transcript, resulting in frameshift (p. Ser338Asnfs*15), and mutant transcript underwent nonsense-mediated mRNA decay in lymphoblastoid cells derived from two siblings. The c.1484T>G mutation substituted a leucine residue, which is highly conserved among the vertebrates, and was predicted to be damaging by in silico analysis programs. Both mutations were not registered in dbSNP data and in our 575 control exomes. These results suggest that the siblings' mutations are likely to be pathogenic. This is the second case report concerning MED17 mutations. Compared with the first reported cases of Caucasian Jewish origin, the clinical symptoms and courses are much milder and slower, respectively, in our cases. Genotype difference (a homozygous mutation versus compound heterozygous mutations) might explain these clinical differences between two cases, though early-onset nystagmus and later choreiform movements were unique in our cases. Clinical spectrum and phenotype-genotype correlations in this rare mutation should be further elucidated.
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http://dx.doi.org/10.1016/j.braindev.2015.05.004DOI Listing
January 2016

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

J Neurol 2015 May 21;262(5):1278-84. Epub 2015 Mar 21.

Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8551, Japan,

Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) have been identified in families with early-onset spinocerebellar ataxia type 29 (SCA29) and late-onset SCA15, but have not been found in sporadic infantile-onset cerebellar ataxia. We examined if mutations of ITPR1 are also involved in sporadic infantile-onset SCA. Sixty patients with childhood-onset cerebellar atrophy of unknown etiology and their families were examined by whole-exome sequencing. We found de novo heterozygous ITPR1 missense mutations in four unrelated patients with sporadic infantile-onset, nonprogressive cerebellar ataxia. Patients displayed nystagmus, tremor, and hypotonia from very early infancy. Nonprogressive ataxia, motor delay, and mild cognitive deficits were common clinical findings. Brain magnetic resonance imaging revealed slowly progressive cerebellar atrophy. ITPR1 missense mutations cause infantile-onset cerebellar ataxia. ITPR1-related SCA includes sporadic infantile-onset cerebellar ataxia as well as SCA15 and SCA29.
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http://dx.doi.org/10.1007/s00415-015-7705-8DOI Listing
May 2015

Catalytic oxidation of CO with N2O on isolated copper cluster anions.

Phys Chem Chem Phys 2014 Dec;16(48):26500-5

East Tokyo Laboratory, Genesis Research Institute, Inc., 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

A catalytic redox reaction involving N2O and CO on size-selected copper cluster anions, Cun(-), was investigated in the gas phase using a guided ion-beam tandem mass spectrometer. When Cun(-) is exposed to a mixture of N2O and CO, CunO(-) is produced via the decomposition of N2O. Increase of the CO partial pressure results in the reproduction of Cun(-) and decrease of CunO(-) through the oxidation of CO. The present results demonstrate that a full catalytic cycle for the reaction, N2O + CO → N2 + CO2, takes place on copper cluster anions. Furthermore, in the investigations of the elementary reactions of Cun(-) + N2O and CunO(-) + CO, we found that the catalytic oxidation of CO with N2O on Cun(-) proceeds most efficiently at n = 7 in the size range of n = 5-16.
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http://dx.doi.org/10.1039/c4cp01554aDOI Listing
December 2014

The in vivo effect of esculetin ointment and esculetin-mixed Zyderm for Zyderm.

Plast Reconstr Surg 2014 Jul;134(1):50e-58e

Tokyo, Japan From the Department of Plastic, Oral, and Maxillofacial Surgery, Teikyo University School of Medicine; the Departments of Cartilage and Bone Regeneration (Fujisoft) and Plastic and Reconstructive Surgery, Graduate School of Medicine, University of Tokyo; the Department of Pharmacy, Teikyo University Hospital; and Teikyo University School of Pharmaceutical Sciences.

Background: Injectable collagen is often used for treatment of wrinkles or scars in cosmetic surgery. However, it is degraded within a short period after subcutaneous injection. The authors aimed to achieve a long-lasting effect of the filler with a new collagenase inhibitor, esculetin (6,7-dihydroxy-2H-chromen-2-one).

Method: Nude mice were divided into two study groups and a control group (35 mg cattle collagen): (1) those implanted with Zyderm 0.3 g subcutaneously into the dorsal region followed by daily topical application of 5% esculetin ointment (0.5 g/day) to the skin of the implanted area (the 5% esculetin ointment group), and (2) those implanted with a mixture of Zyderm 0.3 g and esculetin (1 to 4 mM) (the esculetin-mixed Zyderm groups). In each group, Zyderm was removed at different time points to measure the wet weight and hydroxyproline level. Furthermore, each removed Zyderm specimen was sectioned for histologic examination with Azan staining and immunostaining.

Results: In the esculetin ointment group and the 2 mM esculetin-mixed Zyderm group, the hydroxyproline levels at 30, 60, and 90 days were significantly higher than those in the control group, suggesting that esculetin suppresses the biodegradation of Zyderm. There was no significant difference in hydroxyproline level between the esculetin ointment group and the 2 mM esculetin-mixed Zyderm group; biodegradation occurred to a similar extent with either method of application.

Conclusions: An atelocollagen implant is used as a safe and effective scaffold material for tissue regeneration. Future applications of the present study are expected.
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http://dx.doi.org/10.1097/PRS.0000000000000304DOI Listing
July 2014

Reactions of size-selected copper cluster cations and anions with nitric oxide: enhancement of adsorption in coadsorption with oxygen.

J Phys Chem A 2014 Mar 3;118(10):1761-8. Epub 2014 Mar 3.

East Tokyo Laboratory, Genesis Research Institute, Inc. , 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

Reactions of size-selected Cu(n)(±) and Cu(n)O(m)(±) (n = 3-19, m ≤ 9) clusters with NO were investigated in the near-thermal energy region under single collision conditions using a tandem-type mass spectrometer with two ion-guided cells. Oxygen atoms preadsorbed on the cluster can significantly enhance the NO adsorption probability and cause additional reactions. NO adsorption is observed particularly for anionic copper cluster dioxides, Cu(n)O2(-) (n ≥ 8), followed by the release of a Cu atom from Cu(n)O2(-) (n = 8, 10, and 12), which suggests that NO adsorbs strongly, i.e., dissociatively on these clusters. Density functional theory calculations support that dissociative adsorption of NO occurs in the reaction of Cu8O2(-) under the present experimental conditions. On the other hand, NO oxidation proceeds in reactions of oxygen-rich cluster cations such as Cu4O3(+), Cu6O5(+), Cu9O7(+), and Cu11O8(+).
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http://dx.doi.org/10.1021/jp410059eDOI Listing
March 2014

[Base in four types of lidocaine preparation (formulated in hospital)].

Yakugaku Zasshi 2014 ;134(2):249-58

Department of Plastic, Oral and Maxillofacial Surgery, Teikyo University School of Medicine.

PL cream (combination of lidocaine and procaine) was launched on the market in April 2012 in Japan. We investigated differences in the anesthetic effect by employing two types of base: Carbopol and methylcellulose. Electron microscopy showed a distinct difference in appearance: densely-scattered, fine particles for Carbopol and sparse, large particles for methylcellulose. Accordingly, the extensibility of the cream was significantly greater at 4 and 25 degrees centigrade for methylcellulose, but was greater at 34 degrees centigrade for Carbopol. The steady flow viscosity (1 s(-1)) was greater for the Carbopol than methylcellulose base. The difference in the cutaneous permeability between the two bases increased over time: the methylcellulose base was removed at 90 min after application and, 30 min later, showed a significant difference. These results suggest that the methylcellulose base has a superior anesthetic effect in clinical settings.
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http://dx.doi.org/10.1248/yakushi.13-00174DOI Listing
September 2014

Oxidation of CO and NO on composition-selected cerium oxide cluster cations.

J Phys Chem A 2013 Sep 10;117(37):9005-10. Epub 2013 Sep 10.

East Tokyo Laboratory, Genesis Research Institute, Inc. , 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

The collisional reactions of composition-selected cerium oxide cluster cations, CenOm(+) (n = 2-6; m ≤ 2n), with CO and NO have been investigated under single collision conditions using a tandem mass spectrometer. At near-thermal energy, oxidation of CO and NO is observed only for the stoichiometric clusters, CenO2n(+) (n = 3-5), and the cross sections for the NO oxidation are found to be larger than those for the CO oxidation. In addition, the collision-energy dependence of the reaction cross sections reveals that the CO oxidation has a small activation barrier, whereas the NO oxidation is a barrierless process. These experimental findings are supported by density functional theory calculations.
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http://dx.doi.org/10.1021/jp406339zDOI Listing
September 2013

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Neurology 2013 Sep 9;81(11):992-8. Epub 2013 Aug 9.

From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, Yokohama; Department of Pediatrics (K. Nakamura, M.K., K. Hayasaka), Yamagata University Faculty of Medicine, Yamagata; Division of Neurology (H.O., S.Y., M. Okuda, T.W.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Child Neurology (E.N.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatric Neurology (K. Haginoya), Takuto Rehabilitation Center for Children, Sendai; Department of Pediatrics (J.T.), Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata; Department of Pediatrics (S.S.), Osaka Medical College Hospital, Osaka; National Epilepsy Center (K.I.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka; Department of Pediatrics (S.T.), Yokohama City University Medical Center, Yokohama; Department of Pediatrics (H.I.), Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan; Metabolic Neurogenetic Clinic (D.L., T.L.-S.), Wolfson Medical Center, Holon, Israel; Department of Human Genetics (D.E.C.-B., C.E.V.), National Institute of Pediatrics, Mexico City, Mexico; Division of Child Neurology (M. Ohfu), Okinawa Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Institute of Medical Genetics (K.W.), University Medical Center Ljubljana; Department of Child, Adolescent and Developmental Neurology (B.G.S.), University Children's Hospital, Ljubljana, Slovenia; Department of Neurology (S.H.), Nagano Children's Hospital, Nagano, Japan; Department of Obstetrics and Gynecology (D.C.), The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto; and Division of Clinical and Metabolic Genetics (D.C., D.M.R.), The Hospital for Sick Children, University of Toronto, Canada.

Objective: We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs).

Methods: We recruited a total of 328 patients with EOEE, including 67 patients with Ohtahara syndrome (OS) and 150 with West syndrome. SCN2A mutations were examined using high resolution melt analysis or whole exome sequencing.

Results: We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13.4%), 1 of 150 West syndrome cases (0.67%), and 5 of 111 with unclassified EOEEs (4.5%). Twelve of the 14 mutations were confirmed as de novo, and all mutations were absent in 212 control exomes. A de novo mosaic mutation (c.3976G>C) with a mutant allele frequency of 18% was detected in one patient. One mutation (c.634A>G) was found in transcript variant 3, which is a neonatal isoform. All 9 mutations in patients with OS were located in linker regions between 2 transmembrane segments. In 7 of the 9 patients with OS, EEG findings transitioned from suppression-burst pattern to hypsarrhythmia. All 15 of the patients with novel SCN2A missense mutations had intractable seizures; 3 of them were seizure-free at the last medical examination. All patients showed severe developmental delay.

Conclusions: Our study confirmed that SCN2A mutations are an important genetic cause of OS. Given the wide clinical spectrum associated with SCN2A mutations, genetic testing for SCN2A should be considered for children with different epileptic conditions.
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http://dx.doi.org/10.1212/WNL.0b013e3182a43e57DOI Listing
September 2013

Deep sternal wound infection after cardiac surgery.

J Cardiothorac Surg 2013 May 20;8:132. Epub 2013 May 20.

Department of Cardiovascular Surgery, Kyorin University, 6-20-2, Shinkawa, Mitaka, Tokyo, Japan.

Background: Deep sternal wound infection (DSWI) is a serious postoperative complication of cardiac surgery. In this study we investigated the incidence of DSWI and effect of re-exploration for bleeding on DSWI mortality.

Methods: We reviewed 73,700 cases registered in the Japan Adult Cardiovascular Surgery Database (JACVSD) during the period from 2004 to 2009 and divided them into five groups: 26,597 of isolated coronary artery bypass graft (CABG) cases, 23,136 valvular surgery cases, 17,441 thoracic aortic surgery cases, 4,726 valvular surgery plus CABG cases, and 1,800 thoracic aortic surgery plus CABG cases. We calculated the overall incidence of postoperative DSWI, incidence of postoperative DSWI according to operative procedure, 30-day mortality and operative mortality of postoperative DSWI cases according to operative procedure, 30-day mortality and operative mortality of postoperative DSWI according to whether re-exploration for bleeding, and the intervals between the operation and deaths according to whether re-exploration for bleeding were investigated. Operative mortality is defined as in-hospital or 30-day mortality. Risk factors for DSWI were also examined.

Results: The overall incidence of postoperative DSWI was 1.8%. The incidence of postoperative DSWI was 1.8% after isolated CABG, 1.3% after valve surgery, 2.8% after valve surgery plus CABG, 1.9% after thoracic aortic surgery, and 3.4% after thoracic aortic surgery plus CABG. The 30-day and operative mortality in patients with DSWI was higher after more complicated operative procedures. The incidence of re-exploration for bleeding in DSWI cases was 11.1%. The overall 30-day/operative mortality after DSWI with re-exploration for bleeding was 23.0%/48.0%, and it was significantly higher than in the absence of re-exploration for bleeding (8.1%/22.0%). The difference between the intervals between the operation and death according to whether re-exploration for bleeding had been performed was not significant. Age and cardiogenic shock were significant risk factors related to re-exploration for bleeding, and diabetes control was a significant risk factor related to DSWI for all surgical groups. Previous CABG was a significant risk factor related to both re-exploration for bleeding and DSWI for all surgical groups.

Conclusions: The incidence of DSWI after cardiac surgery according to the data entered in the JACVSD registry during the period from 2004 to 2009 was 1.8%, and more complicated procedures were followed by higher incidence and mortality. When re-exploration for bleeding was performed, mortality was significantly higher than when it was not performed. Prevention of DSWI and establishment of an effective appropriate treatment for DSWI may improve the outcome of cardiac surgery.
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http://dx.doi.org/10.1186/1749-8090-8-132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663691PMC
May 2013

A secondary craniosynostosis associated with juvenile hyperthyroidism.

J Plast Reconstr Aesthet Surg 2013 Oct 3;66(10):e284-6. Epub 2013 May 3.

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http://dx.doi.org/10.1016/j.bjps.2013.04.030DOI Listing
October 2013

Orthodontic treatment in combination with Le Fort II bone distraction in patient with Apert syndrome.

Bull Tokyo Dent Coll 2013 ;54(1):9-17

Division of Orthodontics, Department of Clinical Oral Health Science, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan.

We report a case of an 11-year-old girl presenting with Apert syndrome characterized by midface concavity, protrusion of the eyeballs, and ocular hypertelorism. She had class III anterior crossbite, narrow upper and lower arches, and marked crowding. Based on cephalometric analysis, anterior crossbite associated with marked midfacial hypoplasia was diagnosed. Orthodontic treatment in combination with Le Fort II maxillary distraction was scheduled. The dentition was laterally extended using a Rapid palatal expander in the upper jaw and a Bihelix in the lower jaw. Multi-bracket appliances were simultaneously applied for leveling. Next, Le Fort II maxillary osteotomy was performed to distract the midface bone 16 mm anteroinferiorly using a rigid external distraction system. Orthodontic treatment was completed at 3.8 years after initiation. Bone distraction moved the upper jaw anteriorly downward, and the lower jaw subsequently rotated posteriorly downward, leading to a marked improvement in facial appearance and occlusion. Elongation of the dorsum of the nose, in particular, allowed esthetic improvement of the saddle nose. These improvements remain stable at 2 years after orthodontic treatment.
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http://dx.doi.org/10.2209/tdcpublication.54.9DOI Listing
March 2014

[A case of acute necrotizing encephalopathy and acute encephalopathy with biphasic seizures and late reduced diffusion].

No To Hattatsu 2012 Nov;44(6):487-91

Department of Pediatric Neurology, Nagano Children's Hospital, Azumino, Nagano.

Acute necrotizing encephalopathy (ANE) has a characteristic imagimg finding of bilateral symmetrical thalamic lesions. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized by biphasic clinical course and high intensity of subcortical white matter in MRI diffusion images appearing around the late seizure. We herein report a case of an 8-month-old girl who presented with fever and status epilepticus associated with human herpes 6 infection. Although MRI first demonstrated images of ANE, typical AESD images were observed several days after the onset. We therefore concluded that this case had a combination of ANE and AESD. A proper therapeutic strategy should be established, and acute encephalopathy needs to be better clarified by identifying diagnostic markers and improving the genetical analysis.
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November 2012

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Ann Neurol 2013 Jan 7;73(1):48-57. Epub 2012 Dec 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan..

Objective: Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations.

Methods: We screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients with schizencephaly, which may be similarly caused by disturbed vascular supply leading to cerebral degeneration, but can be distinguished depending on time of insult.

Results: COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia. Mutations include 10 missense, a nonsense, a frameshift, and 3 splice site mutations. Five mutations were confirmed as de novo events. One mutation was cosegregated with familial porencephaly, and 2 mutations were inherited from asymptomatic parents. Aberrant splicing was demonstrated by reverse transcriptase polymerase chain reaction analyses in 2 patients with splice site mutations.

Interpretation: Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. Based on the finding that COL4A1 mutations were frequent in patients with porencephaly and schizencephaly, genetic testing for COL4A1 should be considered for children with these conditions.
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http://dx.doi.org/10.1002/ana.23736DOI Listing
January 2013

Comparison of adsorption probabilities of O2 and CO on copper cluster cations and anions.

J Phys Chem A 2012 Sep 23;116(35):8799-806. Epub 2012 Aug 23.

East Tokyo Laboratory, Genesis Research Institute, Inc., 717-86 Futamata, Ichikawa, Chiba 272-0001, Japan.

Reactions of size-selected copper cluster cations and anions, Cu(n)(±), with O(2) and CO have been systematically investigated under single collision conditions by using a tandem-mass spectrometer. In the reactions of Cu(n)(±) (n = 3-25) with O(2), oxidation of the cluster is prominently observed with and without releasing Cu atoms at the collision energy of 0.2 eV. The reactivity of Cu(n)(+) is governed to some extent by the electronic shell structure; the relatively small reaction cross sections observed at n = 9 and 21 correspond to the electronic shell closings, and those at odd sizes in n ≤ 16 match with the clusters having no unpaired electron. On the other hand, the reactivity of Cu(n)(-) exhibits no remarkable decrease by the electronic shell closings and the even-numbered electrons. These behaviors may be due to an influence of the electron detachment of the reaction intermediate, Cu(n)O(2)(-). Both the cations and anions show the dominant formation of Cu(n-1)O(2)(±) in n ≤ 16 and Cu(n)O(2)(±) in n ≥ 17 in the experimental time window. By contrast, Cu(n)(-) (n = 3-11) do not react with CO at the collision energy of 0.2 eV, while Cu(n)(+) (n = 3-19) adsorb CO though the cross sections are relatively small. The difference in the reactivity between the charge states can be understood in terms of the frontier orbitals of the Cu cluster and O(2) or CO.
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http://dx.doi.org/10.1021/jp304214mDOI Listing
September 2012

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.

J Clin Ultrasound 2012 May 2;40(4):234-8. Epub 2011 Aug 2.

Department of Obstetrics, Center for Perinatal Medicine, Nagano Children's Hospital, Nagano, Japan.

Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn disorder of metabolism, which predominantly affects the nervous system. This report describes a case of PDHc deficiency with antenatal brain dysgenesis depicted in detail by fetal ultrasound and magnetic resonance imaging. This is the first case report clearly demonstrating the developing mechanism and time course of antenatal brain lesions in a patient with PDHc deficiency.
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http://dx.doi.org/10.1002/jcu.20864DOI Listing
May 2012

Straightforward factors for predicting the prognosis of blow-out fractures.

J Craniofac Surg 2011 Jul;22(4):1210-4

Department of Plastic Surgery, University of Tokyo Graduate School of Medicine, Tokyo, Japan.

In blow-out fractures, some nonoperative cases have a poor outcome, and a method for accurate prognosis is required. To address this need, we retrospectively reviewed blow-out fractures presenting at Teikyo University Hospital between July 2004 and May 2007 and conducted a survey regarding diplopia and enophthalmos for nonoperative cases. Computed tomographic scan findings were divided according to fracture width and the degree of protrusion of the inferior rectus muscle into the maxillary sinus. We had 106 patients presenting with blow-out fractures, and 89 patients had been treated nonoperatively. In medial orbital wall fractures, no patient had diplopia, and 1 patient had enophthalmos after nonoperative treatment. In punched-out orbital floor fractures, all cases had diplopia when the fracture width was less than half the diameter of the globe, and the protrusion of the inferior rectus muscle into the maxillary sinus was half or more of its section. Even if the fracture width was less than half the diameter of the globe, 2 of 3 patients had enophthalmos when the protrusion of the inferior rectus muscle into the maxillary sinus was half or more of its section. Among the linear orbital floor fractures, 1 case required an emergency operation. We suggest a new algorithm for treatment of blow-out fractures based on computed tomographic scan findings that can also contribute to making a prognosis.
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http://dx.doi.org/10.1097/SCS.0b013e31821c0d13DOI Listing
July 2011