218 research outputs found

    Excessive gingival display treated with two-piece segmental Le Fort I osteotomy : A Case Report

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    Background. The demand for orthognathic surgery has increased worldwide. Women with jaw deformity tend to have a worse quality of life than men owing to the deformity’s negative effects on body image, low self-esteem, lack of self-confidence, and dissatisfaction with life. Therefore, they wish for more reliable treatment options. Case Description. A woman aged 25 years and 9 months sought treatment for a convex profile and excessive gingival display caused by a skeletal Class II jaw-base relationship. Gingival exposure was up to 6.5 millimeters at full smile. She chose orthognathic surgery, and the authors performed a 2-piece segmental Le Fort I osteotomy and bilateral sagittal split ramus osteotomy. After active orthodontic treatment, the protrusive profile was improved, and an acceptable occlusion and an attractive smile were achieved. Practical Implications. It is hoped that 2-piece segmental Le Fort I osteotomy becomes a common treatment option for patients with protrusive profiles and excessive gingival displays

    Clinical application of a 3-dimensional morphometric apparatus for diagnosis and treatment of a Class III patient with facial asymmetry : A pilot study

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    This article demonstrated the usefulness of a non-contact 3-dimensional (3D) morphometric apparatus in orthodontic diagnosis and treatment evaluation. A female patient, 23 years 6 months of age, had a Class III malocclusion with mandibular deviation. The 3D images taken by a 3D morphometric apparatus figured out her protrusive chin of 6 mm on the deviation side compared to the non-deviation side, and showed a possibility of orthognathic surgery. Before starting of orthodontic treatment, a diagnostic splint was used for 2 months to determine her proper mandibular position. The 3D images retaken for quantitative evaluation showed decrease of the mandibular protrusion by approximately 3 mm, and improvement of facial asymmetry. Then, we decided to treat the patient without orthognathic surgery. After 18 months of active orthodontic treatment with miniscrew anchorage, the mandibular deviation was improved and an acceptable occlusion was achieved. The 3D images at posttreatment demonstrated significant decrease of chin protrusion on the deviation side, and improvement of facial asymmetry. In conclusion, a 3D morphometric apparatus could provide quantitative data of facial asymmetry and chin protrusion and contributed decision making process of treatment planning in a patient with facial asymmetry

    Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

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    Background Osteogenesis imperfecta (OI) is a rare connective-tissue disorder characterized by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or COL1A2. Additionally, IFITM5 variants are responsible for the unique OI type 5. We previously analyzed COL1A1/2 variants in 22 Japanese families with OI through denaturing high-performance liquid chromatography screening, but our detection rate was low (41%). Methods To expand the genotype-phenotype correlations, we performed a genetic analysis of COL1A1/2 and IFITM5 in 96 non-consanguineous Japanese OI probands by Sanger sequencing. Results Of these individuals, 54, 41, and 1 had type 1 (mild), type 2-4 (moderate-to-severe), and type 5 phenotypes, respectively. In the mild group, COL1A1 nonsense and splice-site variants were prevalent (n = 30 and 20, respectively), but there were also COL1A1 and COL1A2 triple-helical glycine substitutions (n = 2 and 1, respectively). In the moderate-to-severe group, although COL1A1 and COL1A2 glycine substitutions were common (n = 14 and 18, respectively), other variants were also detected. The single case of type 5 had the characteristic c.-14C>T variant in IFITM5. Conclusion These results increase our previous detection rate for COL1A1/2 variants to 99% and provide insight into the genotype-phenotype correlations in OI

    二分割Le Fort I型骨切り術併用による上下顎移動術を行った骨格性下顎前突症例

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    骨格性下顎前突症は,その改善に上下顎移動術が適用される場合があり,とりわけ上下顎歯列弓幅径の著しい不調和が認められる症例では,上顎骨に対する分割骨切り術の併用が必要となる.今回,我々は上顎歯列弓の狭窄を伴う骨格性下顎前突症例に対し,二分割Le Fort I型骨切り術と下顎枝矢状分割術(SSRO)を併用した外科的矯正歯科治療を施行し,良好な結果を得たので報告する. 初診時年齢42歳の女性で,受け口を主訴として来院した.現病歴としてシェーグレン症候群に起因する唾液分泌量低下を示した.口腔内所見としてoverjetは-3.5mm,overbiteは+4.3mmで,右側第一小臼歯から左側犬歯にかけて反対咬合が,両側第一大臼歯部には交叉咬合がそれぞれ認められた.正貌はオトガイの左方偏位と咬合平面の左上がりを呈し,側貌はstraight typeであった.側面頭部エックス線規格写真分析の結果,∠ANBは-0.3°と下顎骨の前方位を認め,FMAは37.6°とhigh mandibular plane angleであることから,本症例は上下顎歯列弓幅径の不調和と左上がりの咬合平面傾斜を伴う骨格性下顎前突症と診断された.17か月の術前矯正治療後,二分割Le Fort I型骨切り術とSSROを併用した顎矯正手術を施行した.通法によりLe Fort I型骨切りを行い,正中にて上顎を分割し両骨片間を臼歯部で4.0mm開大させ,上顎正中を顔面正中に一致させ口蓋床にて固定した.下顎はSSROにて右側6.5mm,左側5.0mmの後方移動を行いチタンプレートにて固定した.顎間固定終了後,術後矯正治療により緊密な咬合が獲得されたため,保定へ移行した.上下顎歯列弓幅径の不調和は改善され,良好な咬合関係が確立された.以上より,上顎二分割Le Fort I型骨切り術を併用した上下顎同時移動術は上下顎歯列弓幅径の調和を図る際の歯の移動を最小限に抑え,正中二分割を行わない場合と比較して,治療期間を短縮する上でも有用であることが示唆された

    Inner membrane YfgM–PpiD heterodimer acts as a functional unit that associates with the SecY/E/G translocon and promotes protein translocation

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    PpiD and YfgM are inner membrane proteins that are both composed of an N-terminal transmembrane segment and a C-terminal periplasmic domain. Escherichia coli YfgM and PpiD form a stable complex that interacts with the SecY/E/G (Sec) translocon, a channel that allows protein translocation across the cytoplasmic membrane. Although PpiD is known to function in protein translocation, the functional significance of PpiD-YfgM complex formation as well as the molecular mechanisms of PpiD-YfgM and PpiD/YfgM- Sec translocon interactions remain unclear. Here, we conducted genetic and biochemical studies using yfgM and ppiD mutants and demonstrated that a lack of YfgM caused partial PpiD degradation at its C-terminal region and hindered the membrane translocation of VemP, a Vibrio secretory protein in both Escherichia coli and Vibrio alginolyticus. While ppiD disruption also impaired VemP translocation, we found that the yfgM and ppiD double deletion exhibited no additive or synergistic effects. Together, these results strongly suggest that both PpiD and YfgM are required for efficient VemP translocation. Furthermore, our site-directed in vivo photo-crosslinking analysis revealed that the tetratricopeptide repeat domain of YfgM and a conserved structural domain (NC domain) in PpiD interact with each other and that YfgM, like PpiD, directly interacts with the SecG translocon subunit. Crosslinking analysis also suggested that PpiD/YfgM complex formation is required for these proteins to interact with SecG. In summary, we propose that PpiD and YfgM form a functional unit that stimulates protein translocation by facilitating proper interactions with the Sec translocon

    Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods

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    Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with short limbs, brachydactyly, scoliosis, joint laxity, joint pain since childhood, and a normal face. Epimetaphyseal dysplasia, shortened long bones, and short metacarpals and phalanges are common findings on radiological examination. Additionally, anterior tonguing of the vertebral bodies in the lateral view is an important finding in childhood because it is specific to PSACH and normalizes with age. Here, we report five Japanese patients with PSACH, with one recurrent (p.Cys351Tyr) and four novel heterozygous pathogenic COMP variants (p.Asp437Tyr, p.Asp446Gly, p.Asp507Tyr, and p.Asp518Val). These five pathogenic variants were located in the calcium-binding type 3 (T3) repeats. In four of the novel variants, the affected amino acid was aspartic acid, which is abundant in each of the eight T3 repeats. We describe the radiological findings of these five patients. We also retrospectively analyzed the sequential changes in the vertebral body and epimetaphysis of the long bones from the neonatal to infantile periods in a patient with PSACH and congenital heart disease

    High Excitation Molecular Gas in the Galactic Center Loops; 12CO(J =2-1 and J =3-2) Observations

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    We have carried out 12CO(J =2-1) and 12CO(J =3-2) observations at spatial resolutions of 1.0-3.8 pc toward the entirety of loops 1 and 2 and part of loop 3 in the Galactic center with NANTEN2 and ASTE. These new results revealed detailed distributions of the molecular gas and the line intensity ratio of the two transitions, R3-2/2-1. In the three loops, R3-2/2-1 is in a range from 0.1 to 2.5 with a peak at ~ 0.7 while that in the disk molecular gas is in a range from 0.1 to 1.2 with a peak at 0.4. This supports that the loops are more highly excited than the disk molecular gas. An LVG analysis of three transitions, 12CO J =3-2 and 2-1 and 13CO J =2-1, toward six positions in loops 1 and 2 shows density and temperature are in a range 102.2 - 104.7 cm-3 and 15-100 K or higher, respectively. Three regions extended by 50-100 pc in the loops tend to have higher excitation conditions as characterized by R3-2/2-1 greater than 1.2. The highest ratio of 2.5 is found in the most developed foot points between loops 1 and 2. This is interpreted that the foot points indicate strongly shocked conditions as inferred from their large linewidths of 50-100 km s-1, confirming the suggestion by Torii et al. (2010b). The other two regions outside the foot points suggest that the molecular gas is heated up by some additional heating mechanisms possibly including magnetic reconnection. A detailed analysis of four foot points have shown a U shape, an L shape or a mirrored-L shape in the b-v distribution. It is shown that a simple kinematical model which incorporates global rotation and expansion of the loops is able to explain these characteristic shapes.Comment: 59 pages, accepted to PAS
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