WordNet

an affliction in which some part of the body is misshapen or malformed (同)malformation, misshapenness
of or relating to or forming or attached to a skeleton; "the skeletal system"; "skeletal bones"; "skeletal muscles"

PrepTutorEJDIC

〈U〉(身体の)奇形,変形,不具;醜さ / 〈C〉(身体の)奇形部 / 〈C〉(…の)欠陥
骨格に;がい骨の;がい骨のような

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1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
2. 児童虐待の整形外科的症状の鑑別診断 differential diagnosis of the orthopedic manifestations of child abuse
3. 小児および思春期における良性骨腫瘍：概要 benign bone tumors in children and adolescents an overview
4. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
5. ゴーシェ病：初期評価、モニタリング、および臨床経過 gaucher disease initial assessment monitoring and clinical course

English Journal

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.

Joubert R, Vignaud A, Le M, Moal C, Messaddeq N, Buj-Bello A.AbstractManipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombination and shown that myotubularin is essential for skeletal muscle. However, since the Mtm1 deletion occurred constitutively or shortly after birth in these mice, it is not known whether myotubularin is required during adulthood, an important issue in the context of not only muscle biology but also therapies. To delete the Mtm1 gene in adult muscle fibers, we constructed a recombinant adeno-associated vector (AAV) that expresses the Cre recombinase under the muscle-specific desmin promoter. We report that a single injection of this vector into muscles of 3-month-old Mtm1 conditional mice leads to a myotubular myopathy phenotype with myofiber atrophy, disorganization of organelle positioning, such as mitochondria and nuclei, T-tubule defects and severe muscle weakness. In addition, our results show that MTM1-related atrophy and dysfunction correlate with abnormalities in satellite cell number and markers of autophagy, protein synthesis and neuromuscular junction transmission. The expression level of atrogenes was also analyzed. Therefore, we provide a valuable tissue model that recapitulates the main features of the disease, and it is useful to study pathogenesis and evaluate therapeutic strategies. We establish the proof-of-concept that myotubularin is required for the proper function of skeletal muscle during adulthood, suggesting that therapies will be required for the entire life of XLMTM patients.
Human molecular genetics.Hum Mol Genet.2013 May 1;22(9):1856-66. doi: 10.1093/hmg/ddt038. Epub 2013 Feb 5.
Manipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homo
PMID 23390130

Musculoskeletal problems in pediatric acute leukemia.

Riccio I, Marcarelli M, Del Regno N, Fusco C, Di Martino M, Savarese R, Gualdiero G, Oreste M, Indolfi C, Porpora G, Esposito M, Casale F, Riccardi G.SourceaDepartment of Paediatrics, Paediatric Oncology Service bDepartment of Orthopaedics, Second University of Naples, Italy.
Journal of pediatric orthopedics. Part B.J Pediatr Orthop B.2013 May;22(3):264-9. doi: 10.1097/BPB.0b013e32835d731c.
Acute leukemia (AL) in children can mimic several orthopedic pathologies at presentation, with a variable delay in the correct diagnosis. This is a major problem, which may result in fractures, loss of mobility, and deformity, with resultant adverse effects on quality of life. Here, we studied the c
PMID 23407432

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G.AbstractCostello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused by heterozygous germline HRAS mutations mostly affecting Gly(12) or Gly(13), which impair HRAS-GTPase activity and result in increased downstream signal flow independent of incoming signals. Functional analyses of rarer HRAS mutations identified in individuals with attenuated Costello syndrome phenotypes revealed altered GDP/GTP nucleotide affinities (p.K117R) and inefficient effector binding (p.E37dup). Thus, both phenotypic and functional variability associated with HRAS mutations are evident. Here, we report on a novel heterozygous HRAS germline mutation (c.187_207dup, p.E63_D69dup) in a girl presenting with a phenotype at the milder end of the Costello syndrome spectrum. The p.E63_D69dup mutation impaired co-precipitation of recombinant HRAS with NF1 GTPase-activating protein (GAP) suggesting constitutive HRAS(E63_D69dup) activation due to GAP insensitivity. Indeed, we identified strongly augmented active HRAS(E63_D69dup) that co-precipitated with effectors RAF1, RAL guanine nucleotide dissociation stimulator and phospholipase C1. However, we could not pull down active HRAS(E63_D69dup) using the target protein PIK3CA, indicating a compromised association between active HRAS(E63_D69dup) and PIK3CA. Accordingly, overexpression of HRAS(E63_D69dup) increased steady-state phosphorylation of MEK1/2 and ERK1/2 downstream of RAF, whereas AKT phosphorylation downstream of phosphoinositide 3-kinase (PI3K) was not enhanced. By analyzing signaling dynamics, we found that HRAS(E63_D69dup) has impaired reagibility to stimuli resulting in reduced and disrupted capacity to transduce incoming signals to the RAF-MAPK and PI3K-AKT cascade, respectively. We suggest that disrupted HRAS reagibility, as we demonstrate for the p.E63_D69dup mutation, is a previously unappreciated molecular pathomechanism underlying Costello syndrome.
Human molecular genetics.Hum Mol Genet.2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17.
Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused by heterozygous germline HRAS mutations mostly affecting Gly(12) or Gly(13), wh
PMID 23335589

Japanese Journal

機能と美のシンフォニー:—Prediction of Soft Tissue Profile of Mandibular Prognathism Patients after Orthognathic Surgery—

石川博之,梶井貴史,玉置幸雄
日本顎変形症学会雑誌 25(1), 1-9, 2015
… In surgical orthodontic treatment, it is necessary to evaluate the relationship between changes of hard tissue and those of soft tissue in order to predict the post-treatment soft tissue profiles of jaw deformity patients. … This review compares the influence of sagittal split ramus osteotomy (SSRO) with combined maxillary and mandibular ramus surgery in changes of post-treatment soft tissue profiles of skeletal mandibular prognathism. …
NAID 130005066073

下顎前突を伴う顎変形症患者におけるCT検査条件低減に関する臨床的および実験的研究

木瀬祥貴
愛知学院大学歯学会誌 52(1), 1-12, 2014-03
NAID 40020099035

ガミースマイルを伴う骨格性上顎前突症に対し外科的矯正治療およびインプラント補綴治療を行った1症例

中山真由子,槇宏太郎,久保田雅人
昭和学士会雑誌 74(4), 467-475, 2014
骨格性上顎前突症に対して，外科的矯正治療とインプラント治療により咬合機能と美的調和の両者で満足し得る結果が得られたので，その概要を報告する．症例は22歳男性でガミースマイルを伴う骨格性上顎前突症および過蓋咬合，左側鋏状咬合による下顎右側偏位，下顎両側第二小臼歯の先天性欠如を認めた．そこで，関連する複数科の合同症例検討により外科的矯正治療を適応とし，上顎前方歯槽骨切り術による上顎前歯部の後上方への移 …
NAID 130005056869