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Gas-phase reactions of tungsten carbide and nitride cluster cations, WnCm+ (n = 1-5, m ≤ 5) and WnNm+ (n = 1-6, m ≤ 2), with methane are investigated at near thermal energies. Most of the clusters react readily with CH4 to form WnCm+1H2+ or WnNmCH2+ 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 CH4 dehydrogenation. In addition, the formation and the release of an ethylene molecule are strongly suggested in the reaction of WC+ with CH4 as a minor reaction channel. Nearly all the nitride cluster cations, WnNm+ (n ≥ 2), exhibit higher reactivity than their corresponding carbides, WnCm+, whereas WN+ is less reactive than WC+. Furthermore, the multiple collision reactions of the highly reactive tungsten nitride species such as WN+ and W4N+ lead to the formation of WnNmCxH2x+ (x = 2, 3), which shows that the dehydrogenation of more than one CH4 molecule occurs.

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.

Reactions of copper oxide cluster cations, CunOm+ (n = 3–7; m ≤ 5), with ammonia, NH3, are studied at near thermal energies using a guided ion beam tandem mass spectrometer. The single-collision reactions of specific clusters such as Cu4O2+, Cu5O3+, Cu6O3+, Cu7O3+, and Cu7O4+ give rise to the release of H2O after NH3 adsorption efficiently and result in the formation of CunOm–1NH+. These CunOm+ clusters commonly have Cu average oxidation numbers of 1.0–1.4. On the other hand, the formation of CunOm–1H2+, i.e., the release of HNO, is dominantly observed for Cu7O5+ with a higher Cu oxidation number. Density functional theory calculations are performed for the reaction Cu5O3+ + NH3 → Cu5O2NH+ + H2O as a typical example of H2O 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 Cu5O3+ and Cu7O4+ with NH3 lead to the production of Cu5+ and Cu7O+, respect...

Aluminum carbide cluster anions AlnC2– (n = 5–13) were observed as the most dominant products in the gas-phase reactions of laser-ablated Aln– with organic molecules, such as methanol, ethanol, pentane, acetonitrile, or acetone. Density functional theory calculations predicted two possible isomeric structures for AlnC2–: isomers in which two carbons are dissociated (type D) as in the case of the bulk aluminum carbide and novel isomers in which two carbons form an acetylide-like C2 unit. The latter isomers are further categorized into three types depending on the location of the C2 unit: the C2 unit is encapsulated within the Al cage (type I), contained in the surface of Al clusters (type S), or attached to the surface of Al clusters (type O). Size-dependent behavior of the adiabatic electron affinities of AlnC2 determined by photoelectron spectroscopy was explained in terms of polymorphism as a function of size (n): type I for n = 5–8, type D for n = 9–11, type D or O for n = 12, and type O for n = 13. Th...

Reactivity of bimetallic cobalt-niobium cluster cations, Co n Nb m + (n = 1–4, 6; m = 1–3), toward ammonia was investigated at near thermal energy using a guided ion beam tandem mass spectrometer. The dehydrogenation of NH3 is dominantly observed in the single-collision reactions of all the bimetallic clusters studied here. Most of the clusters containing one niobium atom, Co n Nb+, exhibit large cross sections for the NH3 dehydrogenation compared to the corresponding single-element clusters, Co n+1 + and Nb n+1 +. Density functional theory calculations reveal that both the transition states involved in the first and the second cleavages of N–H bonds of NH3 are significantly stabilized for Co4Nb+, which gives rise to the higher reactivity toward the NH3 dehydrogenation. The multiple-collision reactions of Co n Nb+ (n = 3, 4, and 6) result in the formation of Co n NbN2 +, which can be generated via complete dehydrogenation of two NH3 molecules, in addition to the formation of Co n NbN x H x +.

Reactions of pure and doped rhodium cluster cations, RhnX+ (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, Rh2X+ reacts with NO to produce Rh2N+ with release of metal monoxide, XO, whereas RhnX+ (n = 3–6) adsorb NO. For the specific clusters RhnAl+ (n = 3 and 4) and RhnV+ (n = 4–6), the NO adsorption is often accompanied by the release of one Rh atom. In addition, we examined the reactions of Rh5X+ (X = Al, V, Co, Rh) with NO under multiple-collision conditions and observed the cluster dioxide formation and the N2 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 ...

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 × 10−6) 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., Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohort to identify common, rare and ultra-rare coding variants associated with EE/DEE.

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 (PAK3), 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 PAK3 in ID have been reported. The literature review illustrated a phenotypic spectrum of PAK3 pathogenic variant, and our cases represented the most severe form of the PAK3-associated phenotypes. This is the first report of a PAK3 pathogenic variant in Japanese patients with X-linked ID.

Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the genetic background of FIRES/AERRPS (hereafter FIRES), we recruited 19 Japanese patients, genotyped polymorphisms of the IL1B , IL6 , IL10 , TNFA , IL1RN , SCN1A and SCN2A genes, and compared their frequency between the patients and controls. For IL1RN , the frequency of a variable number of tandem repeat (VNTR) allele, RN2, was significantly higher in the patients than in controls ( p =0.0067), and A allele at rs4251981 in 5′ upstream of IL1RN with borderline significance (p =0.015). Haplotype containing RN2 was associated with an increased risk of FIRES (OR 3.88, 95%CI 1.40–10.8, p =0.0057). For SCN1A , no polymorphisms showed a significant association, whereas a missense mutation, R1575C, was found in two patients. For SCN2A , the minor allele frequency of G allele at rs1864885 was higher in patients with borderline significance ( p =0.011). We demonstrated the association of IL1RN haplotype containing RN2 with FIRES, and showed a possible association of IL1RN rs4251981 G>A and SCN2A rs1864885 A>G, in Japanese patients. These preliminary findings suggest the involvement of multiple genetic factors in FIRES, which needs to be confirmed by future studies in a larger number of FIRES cases.

Reactions of vanadium and niobium nitride cluster cations, V n N m + and Nb n N m + ( n = 3–6; m = n , n –1), with NH 3 were studied using a guided ion beam tandem mass spectrometer. Two main reactions are observed at a near-thermal energy under single collision conditions: simple adsorption of NH 3 and adsorption of decomposed NH (i.e., dehydrogenation of NH 3 ). The total reaction cross section and the branching fraction between these two reactions change significantly with the number of atoms and the composition of the cluster. The specific equiatomic vanadium nitride clusters, V 4 N 4 + and V 6 N 6 + , are relatively inert and exhibit only simple NH 3 adsorption with low probabilities, which can be understood by considering the stable structures (cube and cuboid) resembling subunits of bulk VN. In contrast, most of the other clusters including Nb 4 N 4 + are found to be highly reactive and give rise to the NH 3 dehydrogenation. The multiple-collision reactions of Nb n N m + with ( n , m ) = (3,2), (4,3), and (4,4) result in the complete dehydrogenation of ammonia to give the product ions of Nb n N m N 2 + .

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.

Objective: To investigate the clinical and epidemiologic features of pediatric acquired demyelinating syndromes (ADS) of the CNS in Japan. Methods: We conducted a nationwide survey and collected clinical data on children with ADS aged 15 years or younger, who visited hospitals between 2005 and 2007. Results: Among 977 hospitals enrolled, 723 (74.0%) responded to our inquiries and reported a total of 439 patients as follows: 244 with acute disseminated encephalomyelitis (ADEM), 117 with multiple sclerosis (MS), 14 with neuromyelitis optica (NMO), and 64 with other ADS. We collected and analyzed detailed data from 204 cases, including those with ADEM (66), MS (58), and NMO (10). We observed the following: (1) the estimated annual incidence rate of pediatric ADEM in Japan was 0.40 per 100,000 children (95% confidence interval [CI], 0.34–0.46), with the lowest prevalence in the north; (2) the estimated prevalence rate of MS was 0.69 per 100,000 children (95% CI, 0.58–0.80), with the lowest prevalence in the south; (3) NMO in Japan was rare, with an estimated prevalence of 0.06 per 100,000 children (95% CI, 0.04–0.08); and (4) the sex ratio and mean age at onset varied by ADS type, and (5) male/female ratios correlated with ages at onset in each ADS group. Conclusions: Our results clarify the characteristic clinical features of pediatric ADS in the Japanese population.

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.

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

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.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.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.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.

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.

Reactions of anionic copper cluster dioxides, CunO2– (n = 8, 10, and 12), with NO were studied in the gas phase by using a guided ion beam tandem mass spectrometer. A product ion, Cun–2O4–, is observed under multiple collision conditions together with the single-collision reaction products, CunO2NO– and Cun–1O2NO–. The NO-pressure dependence studies show that Cun–2O4– is formed via adsorption of two NO molecules followed by releasing an N2 molecule, which is clear evidence for NO decomposition. Density functional theory calculations were also performed for the reaction of Cu8O2– with two NO molecules and confirm the production of Cu6O4– under the experimental conditions used.

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.

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.

Reactions of composition-selected cerium oxide cluster cations, Ce n O m + (n = 2–6; m ⩽ 2n), with O2 have been studied under single collision conditions. The formation of Ce n O m + 2 + is observed only for Ce n O m + with the average oxidation number (AON) of ∼3 for Ce atoms, Ce(III) clusters. In contrast, Ce(II) clusters with AON Ce n O m + 1 + , Ce n - 1 O m + , and Ce n - 2 O m - 2 + , after the oxidation of the parent clusters. Combined with collision-induced dissociation studies, it is concluded that O2 is bound weakly to the Ce(III) cluster, whereas O2 added to the Ce(II) cluster is incorporated as atoms rapidly and then the cluster decomposes.

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.

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.

Reactions of size-selected copper cluster cations, Cu n + (n = 3–7) and Cu n O m + (n = 3–5; m = 1 and 2), with nitrous oxide molecules, N2O, have been investigated by use of a tandem mass spectrometer. N2O molecules adsorb sequentially on the odd-sized Cu n + to produce Cu n + (N2O)l, while the even-sized clusters give the reaction products, such as Cu n - 1 O + (N2O)l, involving both the oxidation and the N2O adsorption. Preadsorption of oxygen atoms promotes the sequential N2O-adsorption significantly, and in particular, Cu 3 O + (N2O)3, Cu 4 O 2 + (N2O)3, and Cu 5 O 2 + (N2O)4 are produced dominantly from Cu 3 O + , Cu 4 O 2 + , and Cu 5 O 2 + , which shows the saturation of the adsorption with N2O.

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.

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.

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.

Photodissociation spectra of Co n + (CH 3 OH) 3 ( n = 1–3) were measured in the region of 2800–6800 cm −1 . A broad near-infrared (-IR) absorption was observed in the spectra of n = 2 and 3, in addition to the vibrational absorption in the mid-IR region. With the aid of a calculation based on time-dependent density functional theory (TD-DFT), the near-IR absorption is assigned to the electronic transitions between the levels located near the highest occupied and the lowest unoccupied levels of Co n + (CH 3 OH) 3 , in which one or two methanol molecules dissociate to CH 3 and OH fragments and the fragments adsorb on the bridge sites of Co n + .

To treat lower-extremity osteomyelitis secondary to trauma, bone and soft tissue can be grafted at the same time using microsurgical techniques. We investigate the use of chimeric flaps based on thoracodorsal vessels incorporating vascularized scapular bone and latissimus dorsi myocutaneous flap to reconstruct bone and soft-tissue defects of the lower leg due to osteomyelitis. Ten patients with lower-extremity bone and soft-tissue defects due to osteomyelitis were treated. Vascularized scapular bones were raised on the angular branch of the thoracodorsal artery. Latissimus dorsi myocutaneous flaps were elevated simultaneously to reconstruct the soft tissue defects. All patients tolerated the procedure well. One patient developed an early venous thrombosis, which was successfully treated by thrombectomy. Mean follow-up time was 7 years and 8 months. Bone union without refracture was observed in all patients. The mean time required for bone union after surgery was 13.5 weeks. Donor-site morbidity was minimal. Chimeric flaps based on thoracodorsal vessels incorporating vascularized scapular bone and latissimus dorsi myocutaneous are safe and effective in the repair of lower-extremity bone and soft-tissue defects caused by osteomyelitis.

We have observed infrared spectra of the SO 2 clusters in rare gas matrices (Ar, Kr, Xe). The spectral dependence on temperature and concentration led us to the firm assignment of the SO 2 dimer in Kr and Xe, the result of which was used to reassign dimeric vibrational transitions in Ar that have been controversial for more than ten years.

After the dorsal subcutaneous administration of injectable collagen implant derived from bovine dermis (Zyderm; INAMED, Santa Barbara, CA) to mice, ointments that contain 3 types of collagenase inhibitors, Esculetin (6,7-dihydroxy-2H-chromen-2-one), ONO-4817 [(2S,4S)-N-hydroxy-5-ethoxymethyloxy-2-methyl-4-(4-phenoxybenzoyl) amino-pentanamide], and MMI270 (CGS27023A) {N-hydroxy-2(R)-[(4-methoxysulfonyl)-(3-picolyl)-amino]-3-methylbutanamide hydrochloride monohydrate} were applied daily on the dorsal region of mice (injection site), and intradermal Zyderm was extirpated after 30, 60, and 90 days to measure the level of hydroxyproline. Furthermore, dermal tissue was examined by Azan staining and immunostaining. A significant difference was observed in the level of hydroxyproline in the Esculetin and the ONO-4817 ointment groups compared with that in the control group after 30 days. A significant difference was also observed in the level of hydroxyproline in the Esculetin ointment group compared with that in the control group after 60 and 90 days. Histologically, 90 days after the application of the ointment, dense localization of type III collagen was observed around the injected Zyderm in the group applied Esculetin ointment compared with the control group. Therefore, it was indicated that Esculetin suppressed the degradation of collagen, and further facilitated the qualitative changes that increased neo-collagen, and that the collagen implant with hypodermic injection remained on behalf of ointments contained within the collagenase inhibitors that were applied on the skin surface.

To develop a new mucoadhesive film containing an analgesic combining clinical efficacy and patient comfort, we prepared and evaluated a two-layered film consisting of an adhesive layer containing indomethacin (IM) as the active ingredient and carboxyvinyl polymer (CP) as a bonding agent and a nonadhesive layer containing polyethylene glycol (PEG) to improve film texture. In in vitro and in vivo adhesive tests, the optimal concentration of CP that could be applied to the mucous membrane was 0.2% or 0.3%. Stability testing determined that the optimal storage conditions and expiration period were 4 degrees C without shade and 4 weeks, respectively. The film was clinically evaluated in patients with oral pain. IM at concentrations of 0.5% and 1% provided optimum analgesic effects, and the effects were the greatest in the 1% IM group. The addition of PEG to the nonadhesive layer reduced the number of patients experiencing discomfort at the site where the film was applied. Therefore this film formulation may be useful for local analgesic application due to its low dose requirement, moderate adhesion, and comfortable texture.

Structures of nickel cluster ions adsorbed with methanol, Ni 3 +(CH 3 OH) m (m = 1-3) and Ni4 + (CH 3 OH) m (m = 1-4) were investigated by using infrared photodissociation (IR-PD) spectroscopy based on a tandem-type mass spectrometer, where they were produced by passing Ni 3,4 + through methanol vapor under a multiple collision condition. The IR-PD spectra were measured in the wavenumber region between 3100 and 3900 cm -1 . In each IR-PD spectrum, a single peak was observed at a wavenumber lower by ∼40 cm -1 than that of the OH stretching vibration of a free methanol molecule and was assigned to the OH stretching vibrations of the methanol molecules in Ni 3,4 + (CH 3 OH) m . The photodissociation was analyzed by assuming that Ni 3,4 + (CH 3 -OH) m dissociate unimolecularly after the photon energy absorbed by them is statistically distributed among the accessible modes of Ni 3,4 + (CH 3 OH) m . In comparison with the calculations performed by the density functional theory, it is concluded that (1) the oxygen atom of each methanol molecule is bound to one of the nickel atoms in Ni 3,4 + (defined as molecular chemisorption), (2) the methanol molecules in Ni 3,4 + (CH 3 OH) m do not form any hydrogen bonds, and (3) the cross section for demethanation [CH4 detachment from Ni n + (CH 3 -OH)] is related to the electron density distribution inside the methanol molecule.

The infrared absorption spectra of the water clusters, (H 2 O) n with n = 2–6, have been observed in solid neon matrices. In the bonded OH stretching region we have detected an absorption peak due to the monocyclic water hexamer at 3329 cm −1 , which had been detected earlier only in liquid He droplets and para-hydrogen matrices. This Letter presents the first spectroscopic observation of the monocyclic water hexamer in solid rare gas matrices.

We have identified the infrared spectra of the H2O–Kr and H2O–Xe van der Waals complexes trapped in argon matrices. For both the 1:1 complexes, the line positions for the antisymmetric OH stretching mode are blue shifted from the band origin for the H2O monomer, suggesting that H2O is bound to Kr and Xe with the non-hydrogen bonded geometry. In addition, the presence of Kr at nearest neighbor position induces changes on the line profile of two rovibrational transitions of the H2O monomer in the OH bending region, which is interpreted in terms of anisotropic potential perturbing the rotational levels.

Calvarial defects sometimes require cranioplasty to protect the brain. Alloplastic materials, such as acrylic resin, hydroxyapatite ceramics, and titanium, involve various problems, such as vulnerability, infection, deformity resulting from growth, and high cost. We devised a new bone transport model in the rabbit based on the distraction osteogenesis theory of Ilizarov. Twelve Japan white rabbits with a mean body weight of 2.5 kg aged 12 weeks were used. Craniectomy (7 x 14 mm) was performed in 12 rabbits. Trapezoid bone osteotomy was performed anterior to the calvarial defect in 10 rabbits. The distraction device (Extension-plates) was fixed between the trapezoid bone island and the skull. Distraction was initiated 5 days postoperatively. The device was activated once every other day, with approximately 0.75 mm or 0.5 mm per activation. Bone distraction was continued until the rod could not be moved. The lengths of distraction were 4 mm in two cases, 5 mm in one case, 6 mm in one case, and 7 mm in two cases, with a mean of 5.5 +/- 0.56 mm. Both radiographic and histological findings showed osteogenesis by intramembranous ossification and trans-chondroid bone formation. Distraction osteogenesis has potential clinical applications in cranioplasty, especially in children because usage of autogenous bone is difficult if not impossible in most cases.

In order to relieve oral mucosal pain topically, we prepared a 2% mefenamic acid (MA) spray using carboxyvinyl polymer (CP, 0.25% and 0.5%) and compared it with a MA spray prepared using sodium polyacrylate (PANa, 0.2%). In the stability and dispersion tests, the MA content of the 0.25% and 0.5% CP sprays had not changed 28 days after preparation under 5 test conditions (4°C without shading, 25°C without shading, 37°C without shading, 4°C with shading, 25°C with shading). However, the MA content of the spray prepared using 0.2% PANa had decreased 3 days after preparation, demonstrating that CP was better as a dispersion agent. When the sprays were used for healthy volunteers, the salivary concentration of MA for the 0.5% CP spray was higher than that achieved with the 0.25% CP spray (0.25% CP : 3.47±1.03 mg, 0.5% CP : 4.98±1.23 mg, P

Fibrous materials in some modern absorbent wound dressings have the ability to sequester and retain bacteria; however, this ability varies according to the nature of the fibres. We studied the bacterial retention capacity of alginate and carboxymethylcellulose dressings, using an infected skin ulcer model on the backs of rats. Wound surfaces were inoculated with either Staphylococcus aureus or Pseudomonas aeruginosa at a concentration of 1·5 × 10(6) colony‐forming units per wound. AQUACEL(®); Hydrofiber(®);, Kaltostat(®); or Sorbsan(®); were applied to the contaminated wounds for 12 h. Each dressing was then divided into two pieces. Total viable bacterial count within the dressing was calculated using one piece, and bacterial count released from the dressing into physiological saline was determined using the other piece, enabling bacterial retention rate to be calculated. Bacterial counts in tissue were also determined. Each dressing was tested on each of 10 wounds contaminated with each bacterium. Statistical analyses were performed using one‐way analysis of variance (ANOVA) for replicated measures combined with Duncan's multiple comparison test. AQUACEL(®); Hydrofiber(®); dressing was most effective in its ability to retain both Staphylococcus aureus and Pseudomonas aeruginosa (p

An inhibitor of melanin synthesis, kojic acid (KA) is prescribed for the treatment of skin diseases such as chloasma in hospitals. To select the optimal formulation for achieving efficacy with KA, the relationship between KA release via a synthetic membrane filter and the permeability and penetration in rat skin were investigated. Further, the coefficient of friction of KA ointments was measured as an index of their spreading on the skin. Hydrophilic, white vaseline and macrogol ointments were prepared for this study. The KA content for all three ointments was 1%. Both studies were conducted with a Franz-type diffusion cell. For the in vitro permeability and penetration study, skin samples were taken from the abdominal region of male SD rats from which the hair had been removed. In the study in which KA release via a filter membrane was measured, the release rate for the hydrophilic and macrogol ointments was greater than for white vaseline. In the rat skin test, the hydrophilic ointment produced the highest KA level. Unexpectedly, the white vaseline ointment demonstrated the next highest penetration rate for KA. We therefore concluded that in addition to KA being directly transferred from the ointment, there may also be penetration of the KA within oily ointment bases. Another finding was that lanolin (added as a solubilizing agent), increased the coefficient of friction of the hydrophilic ointment. Overall, the hydrophilic KA ointment without lanolin was considered to be the best formulation among the ointments we prepared.

Step-scan Fourier-transform infrared (FTIR) absorption spectroscopy has been used to study large clusters of C 2 H 2 and C 2 D 2 formed in pulsed supersonic jets. The υ 3 stretching bands in the infrared spectra of C 2 H 2 and C 2 D 2 have been measured near 3230 and 2400 cm - 1 , respectively. The band positions show the formation of acetylene nanoclusters with the cubic solid structure. The deuterium isotopic shift is in good agreement with the predictions based on the harmonic oscillator model and confirms the assignment of the observed features to cubic C 2 H 2 and C 2 D 2 . This is the first infrared observation of cubic solid C 2 D 2 , and the υ 3 C-D stretching band was observed at 2399 cm - 1 . Furthermore, deconvolutions of C 2 H 2 spectra into Lorentzian components reveal a new feature at 3241 cm - 1 attributable to large amorphous clusters.

Objective To present a case of hemimandibular hyperplasia (HH) treated with orthognathic surgery that preserves the condyle without disturbing mandibular function. Methods A 27-year-old woman with HH was treated with orthognathic surgery preserving the enlarged condylar head. Radiographic examination showed typical enlargement of the right condyle, elongation of the right ascending ramus and mandibular body, and tilted occlusal plane. A mandibular sagittal split osteotomy on the unaffected side and subcondylar ramus osteotomy on the affected side, Le Fort I wedge osteotomy to relevel the tilted occlusal plane, and contouring of the lower mandibular margin were performed. Results Excellent results in the full-face appearance and occlusion were obtained. There was no change in the size of the reserved condylar head 4 years postoperatively. In a series of examinations of jaw function with electromyography, mandibular kinesiography, and computer-aided diagnostic axiography, more favorable findings were obtained postoperatively. Conclusions In a case of HH without abnormally high growth activity, orthognathic surgery preserving hypertrophic condyle produced functional improvement in addition to good occlusal and aesthetic outcomes.

We have obtained the infrared absorption spectrum of the jet-cooled C 6 H 6 in the 800–5000 cm −1 region using step-scan Fourier transform infrared spectrometer combined with a pulsed supersonic jet system. The experimental spectrum was in good agreement with the convolution spectrum of the monomer band with the rotational temperature of ∼37 K and the broadbands of liquid C 6 H 6 , indicating the first spectroscopic evidence for the formation of supercooled liquid C 6 H 6 cluster in the supersonic jet.