Anomalously Efficient Dehydrogenation of NH on Ir and Ir.

Gas-phase reactions of iridium cluster cations, Ir ( = 1-8), with ammonia are studied at near-thermal energies. In single collision reactions, dehydrogenation of NH proceeds at = 1-5, and in particular, Ir and Ir are found to be significantly reactive. This size dependence is quite different from those of other platinum group metal cluster cations, where usually only the dimers are able to dehydrogenate NH.

Activation of Methane by Tungsten Carbide and Nitride Cluster Cations.

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.

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

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.

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

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.

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

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.

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

PIEZO2 encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss-of-function mutations in PIEZO2 (i.e.

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

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.

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

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.

Early prognostic factors for acute encephalopathy with reduced subcortical diffusion.

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.

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

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.

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

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.

Possibility of Using Standard Plates for Orbital Fracture.

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.

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

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.

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

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.

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

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.

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

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.

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

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.

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

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

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).

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

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.

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

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.

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

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.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

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.

Deep sternal wound infection after cardiac surgery.

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.