Genome-wide association study for mandibular prognathism using microsatellite and pooled DNA method.

INTRODUCTION: The purpose of this study was to extend an association study from chromosome 1 to the whole genome (genome-wide association study) to find susceptibility loci of mandibular prognathism. METHODS: Two hundred forty patients diagnosed with mandibular prognathism and 360 healthy controls of Japanese descent were recruited. The typing of microsatellites covering the whole genome was conducted using a pooled DNA method. Upon completion of the first and second screenings with pooled DNA, the positive microsatellite markers from both the first and second typings were retyped using individual-subject DNA samples to confirm the significance of allele frequency. RESULTS: Six microsatellites (D1S0411i, D1S1358i, D3S0810i, D6S0827i, D7S0133i, and D15S0154i) showed differences between allele frequencies of the subjects and controls at P <0.001. D1S0411i, D1S1358i, D3S0810i, D6S0827i, D7S0133i, and D15S0154i were located on chromosomes 1p22.3, 1q32.2, 3q23, 6q23.2, 7q11.22, and 15q22.22, respectively. SSX2IP, PLXNA2, RASA2, TCF21, CALN1, and RORA were suggested as candidate genes. CONCLUSIONS: The genome-wide association study using microsatellites suggested that 6 loci (1p22.3, 1q32.2, 3q23, 6q23.2, 7q11.22, and 15q22.22) were susceptibility regions of mandibular prognathism. The locus 1p22.3 was supported by a previous linkage analysis, and the other 5 were novel loci.

Three-dimensional craniomaxillary characteristics of the mouse with spontaneous malocclusion using micro-computed tomography.

The aim of this study was to clarify the morphological characteristics of craniomaxillary deviations in BALB/c-bm/bm mice with a spontaneous malocclusion (incisal transverse crossbite) using three-dimensional (3D) morphological measurements. Sixty female mice aged 13 and 25 weeks were divided into the following groups: control (BALB/c-+/+ mice, n = 20), norm (BALB/c-bm/bm mice with a normal occlusion, n = 20), and mal (BALB/c-bm/bm mice with a malocclusion, n = 20). Various points in the skull were selected and the distances between two points were measured using 3D micro-computed tomography (CT) images. Statistically significant differences in measurement values among the three groups were evaluated by one-way analysis of variance with a probability level of P < 0.05 considered statistically significant. At both ages, the lengths of almost all measurements in the norm and mal groups were significantly shorter than those in the control group. Comparison between the shifted and non-shifted sides in the mal group showed that significant lateral deviation at the maxilla and nasal bone had occurred. Using 3D micro-CT images, the results of this study quantitatively showed that the craniomaxillary complex of BALB/c-bm/bm mice was significantly smaller than that of BALB/c-+/+ mice and that BALB/c-bm/bm mice have a spontaneous transverse crossbite due to lateral deviation of the maxilla and nasal bone.

Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.

Mandibular prognathism is a phenotype of facial deformity seen in populations around the world, but with higher incidence among East Asian populations. Five genome-wide nonparametric linkage analyses and a genome-wide association study to identify susceptibility loci of the phenotype have shown inconsistent results. To explore variants related to mandibular prognathism, we undertook whole-exome sequencing in a Japanese pedigree. The pedigree was ascertained as mandibular prognathism. The pedigree comprised 15 individuals from 4 generations. Four affected individuals across 2 generations and 5 unaffected individuals were chosen for whole-exome sequencing. Five non-synonymous single-nucleotide variants (SNVs) of UBASH3B, OR6M1, OR8D4, OR8B4, and BEST3 genes were detected in all 4 affected individuals, but in none of the 5 unaffected individuals. A non-synonymous SNV of the BEST3 gene, Chr12(GRCh37):g.70048878G>T, NM_032735.2:c.1816C>A, p.(L606I), was identified as rare missense variant. BEST3 is located on chromosome 12q15 and encodes bestrophin 3 from the bestrophin family of anion channels. The 4 other non-synonymous SNVs of UBASH3B, OR6M1, OR8D4, and OR8B4 were not considered plausible candidates for mandibular prognathism. Our whole-exome sequencing implicates a rare non-synonymous SNV of BEST3 as a candidate for mandibular prognathism in the Japanese pedigree.

Antimicrobial efficacy of a novel povidone iodine contact lens disinfection system.

PURPOSE: Contact lens (CL) wear is a risk factor for the acquisition of microbial keratitis. Accordingly, compliance to manufacturers' recommended hygiene and disinfection procedures are vital to safe (CL) use. In this study we evaluated a novel povidone-iodine (PI) (CL) disinfection system (cleadew, Ophtecs Corporation, Japan) against a range of bacterial, fungal and Acanthamoeba. METHODS: Antimicrobial assays were conducted according to ISO 14729 using the recommended strains of bacteria and fungi, with and without the presence of organic soil. Regrowth of bacteria and fungi in the disinfection system was also examined. The activity on biofilms formed from Stenotrophomonas maltophilia and Achromobacter sp. was evaluated. Efficacy against A. castellanii trophozoites and cysts was also investigated. RESULTS: The PI system gave >4 log10 kill of all bacteria and fungi following the manufacturer's recommended disinfection and cleaning time of 4h, with or without the presence of organic soil. No regrowth of organisms was found after 14days in the neutralized solution. In the biofilm studies the system resulted in at least a 7 log10 reduction in viability of bacteria. For Acanthamoeba, >3 log10 kill of trophozoites and 1.1-2.8 log10 kill for the cyst stage was obtained. CONCLUSIONS: The PI system effective against a variety of pathogenic microorganisms under a range of test conditions. Strict compliance to recommended CL hygiene procedures is essential for safe CL wear. The use of care systems such as PI, with broad spectrum antimicrobial activity, may aid in the prevention of potentially sight threatening microbial keratitis.

A soft-solution process for recovering rare metals from metal/alloy-wastes by grinding and washing with water.

We have developed a novel process for recovering metals from alloy-wastes by using a mechanochemical (MC) reaction. The process consists of co-grinding both alloy and polyvinyl chloride (PVC) samples, followed by washing with water and filtration. The co-grinding of the wastes causes a solid-state MC reaction to form metal chlorides and hydrocarbon in the product. The former products are soluble in water, so they can be recovered from the wastes by washing with water, followed by filtration. The PVC waste plays a significant role as a chlorine source in the MC reaction. After filtration, the solid residue can be used as a fuel, due to the absence of chlorine in the product, and the filtrate is subjected to hydrometallurgical process to extract metals from the solution.

Decomposition pathways of polytetrafluoroethylene by co-grinding with strontium/calcium oxides.

Waste polytetrafluoroethylene (PTFE) could be easily decomposed by co-grinding with inorganic additive such as strontium oxide (SrO), strontium peroxide (SrO2) and calcium oxide (CaO) by using a planetary ball mill, in which the fluorine was transformed into nontoxic inorganic fluoride salts such as strontium fluoride (SrF2) or calcium fluoride (CaF2). Depending on the kind of additive as well as the added molar ratio, however, the reaction mechanism of the decomposition was found to change, with different compositions of carbon compounds formed. CO gas, the mixture of strontium carbonate (SrCO3) and carbon, only SrCO3 were obtained as reaction products respectively with equimolar SrO, excess SrO and excess SrO2 to the monomer unit CF2 of PTFE were used. Excess amount of CaO was needed to effectively decompose PTFE because of its lower reactivity compared with strontium oxide, but it promised practical applications due to its low cost.

Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants.

Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, five Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study. A concave profile and a skeletal Class III jaw-base relationship caused by severe maxillary hypoplasia were seen in all patients. The patients exhibited anterior and posterior crossbites possibly due to a small dental arch of Maxilla.

Mechanochemical decomposition of PVC by using La2O3 as additive.

A polyvinyl chloride (PVC, [CH2CHCl]n) sample was ground with one of the following oxide samples, lanthanum oxide (La2O3) and calcium oxide (CaO), as a reference, to investigate its mechanochemical (MC) decomposition. According to the XRD patterns for the ground products, peaks of lanthanum oxy-chloride, LaOCl which is water insoluble, were observed to appear in the patterns of the mixture samples at a molar ratio of (PVC: La2O3 = 1:2) and (1:4), after 20 min grinding, while the patterns of the ground PVC-CaO mixtures show the formation of CaOHCl, which is water soluble, in the products after 2 h grinding. TG patterns taken for the PVC-La2O3 mixtures ground for different periods of time do not indicate significant weight loss in the range from 200 to 300 degrees C, and this suggests that La2O3 is more effective additive than CaO in the MC decomposition for PVC. FT-IR patterns for organic phases in the ground mixture show the reduction of CCl bindings in the PVC structure. The MC reaction between PVC and La2O3 is accompanied by the formation of C-O single bonds, to form LaOCl, which is insoluble in water at ambient condition. This is the reason why the yield of Cl extracted by the water leaching reaches only less than 50%, while it reaches almost 100% in the yield of Cl from the PVC-CaO mixture ground for 2 h or more.

Evaluation of povidone-iodine as a disinfectant solution for contact lenses: antimicrobial activity and cytotoxicity for corneal epithelial cells.

Povidone-iodine (PVP-I) possesses broad-spectrum antimicrobial activity and is used clinically as a disinfectant. We evaluated the disinfectant properties and safety of PVP-I for use as a contact lens solution. The concentrations of PVP-I required to reduce the number of Staphylococcus aureus or Candida albicans by 3 log units were lower than were those of hydrogen peroxide, polyhexamethylene biguanide (PHMB), and benzalkonium chloride (BAK). The cytotoxicity of PVP-I for cultured human corneal epithelial (HCE) cells was less than that of the other three agents. The safety margin for PVP-I was thus greatest among the tested compounds. PVP-I appears suited for use as a contact lens disinfectant.

Development of a rabbit model of tear film instability and evaluation of viscosity of artificial tear preparations.

OBJECTIVE: The purposes of this study were to establish a quantitative method for evaluating rabbit tear film status and investigate the efficacy of artificial tear preparations through ocular surface bathing or eye drop application. METHODS: The rabbit tear film was evaluated using a noninvasive specular reflection video recording system. The appearance of a tear break area (TBA) on the tear film images (7.4 mm2/mm) after 30 seconds of eye opening was quantified by image analysis. To induce disruption of the rabbit tear film, the ocular surface was challenged for 60 minutes with 1 ppm hypochloric acid (HOCl). Immediately after irrigation, artificial tear preparations composed of viscosity agents sodium hyaluronate (SH), hydroxypropylmethycellulose (HPMC), hydroxyethylcellulose (HEC), or chondroitin sulfate (CS) were applied to the rabbit eye through ocular surface bathing or eye drop application, and the recovery of the disrupted tear film was compared for each preparation. RESULTS: A dramatic increase in TBA was observed immediately after the ocular surface was challenged with HOCl, and it returned to the initial level after 6 hours. Immediately after ocular surface bathing and eye drop application, a dramatic recovery of TBA was observed in all the test solution-treated eyes. One hour after treatments, prolonged amelioration of the tear film instability was observed after ocular surface bathing, but not by eye drop application, with the artificial tear preparations composed of HPMC or SH. CONCLUSION: Ocular surface bathing with artificial tear preparations composed of a suitable viscosity agents could be useful in managing tear film instability.

Generation of high-purity hydrogen from cellulose by its mechanochemical treatment.

Cellulose was mixed with the hydroxides of lithium and nickel and the mixture was milled, followed by heating to produce hydrogen. Several analytical methods of X-ray diffraction (XRD), thermogravimetry/mass spectrometry (TG/MS) and gas chromatography (GC) were used to characterize the samples. Hydrogen was emitted when heating the milled sample around 400 degrees C together with low concentrations of methane, carbon monoxide and carbon dioxide. It is understood that an interaction occurs between cellulose and lithium hydroxide to convert the carbon of cellulose into lithium carbonate and to emit hydrogen correspondingly. It is also found that nickel catalyst is required to facilitate the interaction and the behaviours of three different nickel compounds were compared. When high yield of hydrogen emission is available, the prepared samples can also serve the purpose of hydrogen storage.

Generation of hydrogen from polyvinyl chloride by milling and heating with CaO and Ni(OH)2.

This work discusses an alternative process option for the treatment of polyvinyl chloride (PVC) by producing hydrogen (H(2)) gas, at the same time fixing chlorine for proper environmental control. In the first-stage, a milling operation is performed in a planetary ball mill to obtain a mixture of PVC sample with CaO and Ni(OH)(2) to be used as feed in the second-step, involving heating of the milled product. Analyses by thermogravimetry-mass spectroscopy (TG-MS) and gas chromatography (GC) showed H(2), CH(4), CO and CO(2) as main constituents. The results clearly show that addition of Ni(OH)(2) to provide nickel as catalyst and CaO as adsorbent to fix CO(2) and HCl gases generated during heating, assisted in clean H(2) generation with concentration near 90% at temperatures between 450 and 550 degrees C. Analyses of solids after heating by X-ray diffraction and TG-DTA techniques showed both CaOHCl and CaCO(3) as main phases in the product. This process could be developed to treat PVC wastes together with other polymers and/or plastic wastes for production of H(2) gas.

Estimation of mechanochemical dechlorination rate of poly(vinyl chlorde).

Poly(vinyl chloride) (PVC) was ground in air with CaO in the presence of quartz powder as a grinding aid by a small-scale planetary ball mill to investigate the relation of the dechlorination rate of PVC with the impact energy of the balls calculated from a computer simulation based on the Discrete Element Method under various conditions. Mechanochemical dechlorination proceeds as the grinding progresses and is improved with an increase in both the mill speed and the amount of balls introduced into the mill. The same trend can be seen in the relation between the specific normal impact energy of the balls and the rotational speed. The relationship between the observed dechlorination rate and the computed normal impact energy of the balls is linear, with a correlation coefficient of 0.965. This relationship can be used to estimate the dechlorination rate of PVC in a large-scale planetary ball mill.