当前位置： SCI文献检索 > BONE期刊下所有文献 > Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

Abstract：

:Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis. The prevalence of scoliosis was highest in OI type III (89%), followed by OI type IV (61%) and OI type I (36%). Moderate to severe scoliosis (Cobb angle ≥25°) was rare in individuals with COL1A1 haploinsufficiency mutations but was present in about two fifth of patients with triple helical glycine substitutions or C-propeptide mutations. During the first 2 to 4years of bisphosphonate therapy, patients with OI type III had lower Cobb angle progression rates than before bisphosphonate treatment, whereas in OI types I and IV bisphosphonate treatment was not associated with a change in Cobb angle progression rates. At skeletal maturity, the prevalence of scoliosis (Cobb angle >10°) was similar in patients who had started bisphosphonate treatment early in life (before 5.0years of age) and in patients who had started therapy later (after the age of 10.0years) or had never received bisphosphonate therapy. Bisphosphonate treatment decreased progression rate of scoliosis in OI type III but there was no evidence of a positive effect on scoliosis in OI types I and IV. The prevalence of scoliosis at maturity was not influenced by the bisphosphonate treatment history in any OI type.

journal_name

Bone

journal_title

Bone

authors

Sato A,Ouellet J,Muneta T,Glorieux FH,Rauch F

doi

10.1016/j.bone.2016.02.018

subject

Has Abstract

pub_date

2016-05-01 00:00:00

pages

53-7

eissn

8756-3282

issn

1873-2763

pii

S8756-3282(16)30044-8

journal_volume

86

pub_type

杂志文章

相关文献

BONE文献大全
  • Bone mineral density in asthmatic women on high-dose inhaled beclomethasone dipropionate.

    abstract：:Inhaled corticosteroids are the cornerstone of the modern therapy for asthma. In recent years, inhaled corticosteroids have been used in higher doses than previously. This has caused concern about possible osteoporotic side-effects. We studied bone mineral densities (BMDs) in 19 non-smoking women (mean age 53 years, r...

    journal_title：Bone

    pub_type： 临床试验,杂志文章

    doi：10.1016/8756-3282(94)90309-3

    authors： Herrala J,Puolijoki H,Impivaara O,Liippo K,Tala E,Nieminen MM

    更新日期：1994-11-01 00:00:00

  • Expression of bone microsomal casein kinase II, bone sialoprotein, and osteopontin during the repair of calvarial defects.

    abstract：:The temporal expression of bone microsomal casein kinase II, osteopontin, bone sialoprotein, alkaline phosphatase, and the accumulation of a solid calcium-inorganic orthophosphate mineral phase, have been charted from day 2 to day 21 during the repair of calvarial defects in rats induced by the implantation of decalci...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(98)00057-x

    authors： Wang J,Glimcher MJ,Mah J,Zhou HY,Salih E

    更新日期：1998-06-01 00:00:00

  • Vitamin D status, bone mass, and bone metabolism in home-dwelling postmenopausal Japanese women: Yokogoshi Study.

    abstract：:Little has been understood about vitamin D status in relation to bone health in Asian women. The purpose of this study was to identify how the serum 25-hydroxyvitamin D (25[OH]D) concentration is associated with bone mass and bone metabolism. This cross-sectional, community-based epidemiologic study was conducted amon...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2007.09.056

    authors： Nakamura K,Tsugawa N,Saito T,Ishikawa M,Tsuchiya Y,Hyodo K,Maruyama K,Oshiki R,Kobayashi R,Nashimoto M,Yoshihara A,Ozaki R,Okano T,Yamamoto M

    更新日期：2008-02-01 00:00:00

  • Association between fluoride, magnesium, aluminum and bone quality in renal osteodystrophy.

    abstract：INTRODUCTION:Trace elements are known to influence bone metabolism; however, their effects may be exacerbated in renal failure because dialysis patients are unable to excrete excess elements properly. Our study correlated bone quality in dialysis patients with levels of bone fluoride, magnesium, and aluminum. A number ...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2003.08.006

    authors： Ng AH,Hercz G,Kandel R,Grynpas MD

    更新日期：2004-01-01 00:00:00

  • Subcloning of three osteoblastic cell lines with distinct differentiation phenotypes from the mouse osteoblastic cell line KS-4.

    abstract：:Three distinct osteoblastic cell lines (KS418, KS460, and KS483) were subcloned from the mouse osteoblastic KS-4 cells, which possessed the abilities not only to differentiate into mature osteoblasts, but also to support osteoclast differentiation in coculture with spleen cells. The order of the magnitude of the basal...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(96)00255-4

    authors： Yamashita T,Ishii H,Shimoda K,Sampath TK,Katagiri T,Wada M,Osawa T,Suda T

    更新日期：1996-11-01 00:00:00

  • Early detection of burn induced heterotopic ossification using transcutaneous Raman spectroscopy.

    abstract：INTRODUCTION:Heterotopic ossification (HO), or the abnormal formation of bone in soft tissue, occurs in over 60% of major burn injuries and blast traumas. A significant need exists to improve the current diagnostic modalities for HO which are inadequate to diagnose and intervene on HO at early time-points. Raman spectr...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2013.01.002

    authors： Peterson JR,Okagbare PI,De La Rosa S,Cilwa KE,Perosky JE,Eboda ON,Donneys A,Su GL,Buchman SR,Cederna PS,Wang SC,Kozloff KM,Morris MD,Levi B

    更新日期：2013-05-01 00:00:00

  • Muscle and bone follow similar temporal patterns of recovery from muscle-induced disuse due to botulinum toxin injection.

    abstract：:If muscle force is a primary source for triggering bone adaptation, with disuse and reloading, bone changes should follow muscle changes. We examined the timing and magnitude of changes in muscle cross-sectional area (MCSA) and bone architecture in response to muscle inactivity following botulinum toxin (BTX) injectio...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2009.10.016

    authors： Manske SL,Boyd SK,Zernicke RF

    更新日期：2010-01-01 00:00:00

  • Effect of early nutritional intake on long-term growth and bone mineralization of former very low birth weight infants.

    abstract：BACKGROUND:Preterm infants are at risk for impaired bone mineralization and growth in length later in life due to inadequate nutritional intake in the early postnatal period. OBJECTIVE:To investigate whether increased nutritional supplementation of calcium, phosphate and protein in Very Low Birth Weight (VLBW) infants...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2017.12.022

    authors： Christmann V,van der Putten ME,Rodwell L,Steiner K,Gotthardt M,van Goudoever JB,van Heijst AFJ

    更新日期：2018-03-01 00:00:00

  • High-resolution morphometric analysis of human osteoblastic cell adhesion on clinically relevant orthopedic alloys.

    abstract：:Understanding the cellular basis of osteoblastic cell-biomaterial interaction is crucial to the analysis of the mechanism of osseointegration, a requirement of long-term orthopedic implant stability. Clinically, the amount of bone ingrowth is variable, and cellular parameters that influence ingrowth have yet to be cle...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(99)00077-0

    authors： Shah AK,Sinha RK,Hickok NJ,Tuan RS

    更新日期：1999-05-01 00:00:00

  • Steering the osteoclast through the demineralization-collagenolysis balance.

    abstract：:There is a lot of interest for how and how much osteoclasts resorb bone. However, little is known about the mechanism which controls the orientation and the duration of a resorptive event, thereby determining the specific geometry of a cavitation. Here we show that the relative rate of collagenolysis vs. demineralizat...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2013.06.007

    authors： Søe K,Merrild DM,Delaissé JM

    更新日期：2013-09-01 00:00:00

  • Alterations in canine vertebral bone turnover, microdamage accumulation, and biomechanical properties following 1-year treatment with clinical treatment doses of risedronate or alendronate.

    abstract：:One year of treatment with bisphosphonates at 5x the dose used for post-menopausal osteoporosis significantly increases failure load and microdamage, and decreases toughness at multiple skeletal sites in intact female beagles. The goal of this study was to determine if similar changes occur with doses equivalent to th...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2006.04.028

    authors： Allen MR,Iwata K,Phipps R,Burr DB

    更新日期：2006-10-01 00:00:00

  • The increased in vitro osteoclastogenesis in patients with rheumatoid arthritis is due to increased percentage of precursors and decreased apoptosis - the In Vitro Osteoclast Differentiation in Arthritis (IODA) study.

    abstract：:Increases in local and systemic bone resorption are hallmarks of rheumatoid arthritis (RA). Osteoclasts are implicated in these processes and their enhanced differentiation may contribute to bone destruction. We observed that in vitro osteoclastogenesis varies among healthy individuals and hypothesized that increased ...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2010.10.167

    authors： Durand M,Boire G,Komarova SV,Dixon SJ,Sims SM,Harrison RE,Nabavi N,Maria O,Manolson MF,Mizianty M,Kurgan L,de Brum-Fernandes AJ

    更新日期：2011-03-01 00:00:00

  • Systemic bone loss and induction of coronary vessel disease in a rat model of chronic inflammation.

    abstract：:Clinically, osteopenia or low bone mass has been observed in a variety of chronic inflammatory diseases, and elevated proinflammatory mediators have implicated this process. The purpose of this study was to develop an in vivo model of bone loss induced by chronic systemic inflammation. Time-release pellets designed to...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2005.09.008

    authors： Smith BJ,Lerner MR,Bu SY,Lucas EA,Hanas JS,Lightfoot SA,Postier RG,Bronze MS,Brackett DJ

    更新日期：2006-03-01 00:00:00

  • Quantification of bone microstructure in the wrist using cone-beam computed tomography.

    abstract：:Due to the rising life expectancy, bone diseases (e.g. osteoporosis, osteoarthritis) and trauma (e.g. fracture) have become an important socio-economic burden. Accurate visualization and quantification of the bone microstructure in vivo is seen as an important step to enhance diagnosis and treatment. Micro-computed to...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2018.06.006

    authors： Mys K,Stockmans F,Vereecke E,van Lenthe GH

    更新日期：2018-09-01 00:00:00

  • Receptor activator of NF-κB ligand-dependent expression of caveolin-1 in osteoclast precursors, and high dependency of osteoclastogenesis on exogenous lipoprotein.

    abstract：:Although extensive studies have done much to clarify the molecular mechanisms of osteoclastogenesis during the last ten years, there may still be unknown molecules associated with osteoclast differentiation. Thus, we used fluorescent differential display to screen for genes whose expression is induced by receptor acti...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2011.10.028

    authors： Hada N,Okayasu M,Ito J,Nakayachi M,Hayashida C,Kaneda T,Uchida N,Muramatsu T,Koike C,Masuhara M,Sato T,Hakeda Y

    更新日期：2012-01-01 00:00:00

  • Revealing the interplay of bone and cartilage in osteoarthritis through multimodal imaging of murine joints.

    abstract：:Osteoarthritis (OA) affects both cartilage and bone tissues, and the subsequent breakdown of the two tissues appears to be interrelated. The interest in the role of subchondral bone changes with OA is growing, and one suggestion is that a simple inverse correlation exists between the cartilage loss and increased bone ...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2009.05.017

    authors： Stok KS,Pelled G,Zilberman Y,Kallai I,Goldhahn J,Gazit D,Müller R

    更新日期：2009-09-01 00:00:00

  • Improvement of cancellous bone microstructure in patients on teriparatide following alendronate pretreatment.

    abstract：:An increase in procollagen type I amino-terminal propeptide (PINP) early after teriparatide initiation was shown to correlate with increased lumbar spine areal BMD and is a good predictor of the anabolic response to teriparatide. Few data exist correlating PINP and bone microstructure, and no data exist in patients on...

    journal_title：Bone

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1016/j.bone.2016.05.004

    authors： Fahrleitner-Pammer A,Burr D,Dobnig H,Stepan JJ,Petto H,Li J,Krege JH,Pavo I

    更新日期：2016-08-01 00:00:00

  • Role of prostaglandins in bone resorption in a synchronized remodeling sequence in the rat.

    abstract：:The role of prostaglandins (PGs) in physiological remodeling has not yet been defined. The present study was undertaken to determine whether they intervene during the activation phase in a highly reproducible and synchronized model of bone remodeling. Indomethacin was employed to inhibit PG synthesis. This treatment t...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/8756-3282(88)90003-8

    authors： Saffar JL,Leroux P

    更新日期：1988-01-01 00:00:00

  • Increased sensitivity of rheumatoid synoviocytes to Schnurri-3 expression in TNF-α and IL-17A induced osteoblastic differentiation.

    abstract：OBJECTIVE:To compare the effects of TNF-α and IL-17A on osteogenic differentiation of isolated fibroblast-like synoviocytes (FLS) from healthy donors, osteoarthritis (OA) and rheumatoid arthritis (RA) patients. METHODS:FLS were cultured in osteogenic medium, with and without TNF-α and/or IL-17A. Extracellular matrix m...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2016.04.008

    authors： Lavocat F,Osta B,Miossec P

    更新日期：2016-06-01 00:00:00

  • Bone mineral density in Anorexia Nervosa versus Avoidant Restrictive Food Intake Disorder.

    abstract：BACKGROUND:Avoidant Restrictive Food Intake Disorder (ARFID) and Anorexia Nervosa (AN) cause significant underweight in children and young people (CYP). The association of low bone mineral density (BMD) and underweight CYP in AN is well established, but less is known about BMD in ARFID. METHODS:Retrospective case-note...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2020.115307

    authors： Alberts Z,Fewtrell M,Nicholls DE,Biassoni L,Easty M,Hudson LD

    更新日期：2020-05-01 00:00:00

  • An in vivo genome wide gene expression study of circulating monocytes suggested GBP1, STAT1 and CXCL10 as novel risk genes for the differentiation of peak bone mass.

    abstract：:Peak bone mass (PBM) is an important determinant of osteoporosis. Circulating monocytes serve as early progenitors of osteoclasts and produce important molecules for bone metabolism. To search for genes functionally important for PBM variation, we performed a whole genome gene differential expression study of circulat...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2008.05.016

    authors： Lei SF,Wu S,Li LM,Deng FY,Xiao SM,Jiang C,Chen Y,Jiang H,Yang F,Tan LJ,Sun X,Zhu XZ,Liu MY,Liu YZ,Chen XD,Deng HW

    更新日期：2009-05-01 00:00:00

  • Shear stress inhibits IL-17A-mediated induction of osteoclastogenesis via osteocyte pathways.

    abstract：:Interleukin (IL)-17 is crucial to osteoclast differentiation and activation. Osteocytes support osteoclast formation and are thought to orchestrate bone remodeling in response to fluid flow. The contribution of IL-17 to osteocyte-related bone resorption remains unclear. Here, we used the osteocyte-like MLO-Y4 cell lin...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2017.04.003

    authors： Liao C,Cheng T,Wang S,Zhang C,Jin L,Yang Y

    更新日期：2017-08-01 00:00:00

  • Effects of long-term vitamin K(1) (phylloquinone) or vitamin K(2) (menaquinone-4) supplementation on body composition and serum parameters in rats.

    abstract：:Vitamin K is a cofactor for γ-glutamyl carboxylase, which is an essential enzyme for the γ-carboxylation of vitamin K-dependent proteins such as osteocalcin and matrix Gla protein. Although it has been suggested that vitamin K plays an important role in the improvement of bone metabolism, the relationship between diet...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2011.01.020

    authors： Sogabe N,Maruyama R,Baba O,Hosoi T,Goseki-Sone M

    更新日期：2011-05-01 00:00:00

  • Controversy of physiological vs. pharmacological effects of BMP signaling: Constitutive activation of BMP type IA receptor-dependent signaling in osteoblast lineage enhances bone formation and resorption, not affecting net bone mass.

    abstract：:Bone morphogenetic proteins (BMPs) were first described over 50 years ago as potent inducers of ectopic bone formation when administrated subcutaneously. Preclinical studies have extensively examined the osteoinductive properties of BMPs in vitro and new bone formation in vivo. BMPs (BMP-2, BMP-7) have been used in or...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2020.115513

    authors： Kamiya N,Atsawasuwan P,Joiner DM,Waldorff EI,Goldstein S,Yamauchi M,Mishina Y

    更新日期：2020-09-01 00:00:00

  • Differential effects of homocysteine and beta aminopropionitrile on preosteoblastic MC3T3-E1 cells.

    abstract：:Compounds, like beta-aminopropionitrile (bAPN) and homocysteine (hcys), are known to inhibit a stable matrix formation. Osteoblast-synthesized collagen matrix regulates the differentiation of precursor cells into mature osteoblasts. They express lysyl oxidase, an enzyme involved in the collagen cross-linking process. ...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2009.10.038

    authors： Thaler R,Spitzer S,Rumpler M,Fratzl-Zelman N,Klaushofer K,Paschalis EP,Varga F

    更新日期：2010-03-01 00:00:00

  • Localization of cathepsin K in human osteoclasts by in situ hybridization and immunohistochemistry.

    abstract：:We have recently cloned cathepsin K from a human bone cDNA library. Since cathepsins are proposed to be involved in the degradation of mineralized bone matrix, we have investigated, by in situ hybridization and immunocytochemistry, the expression of the cathepsin K mRNA transcripts and protein in sections of bone and ...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(96)00351-1

    authors： Littlewood-Evans A,Kokubo T,Ishibashi O,Inaoka T,Wlodarski B,Gallagher JA,Bilbe G

    更新日期：1997-02-01 00:00:00

  • The elementary fusion modalities of osteoclasts.

    abstract：:The last step of the osteoclast differentiation process is cell fusion. Most efforts to understand the fusion mechanism have focused on the identification of molecules involved in the fusion process. Surprisingly, the basic fusion modalities, which are well known for fusion of other cell types, are not known for the o...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2014.12.010

    authors： Søe K,Hobolt-Pedersen AS,Delaisse JM

    更新日期：2015-04-01 00:00:00

  • Trabecular bone score (TBS): Method and applications.

    abstract：:Trabecular bone score (TBS) is a texture index derived from standard lumbar spine dual energy X-ray absorptiometry (DXA) images and provides information about the underlying bone independent of the bone mineral density (BMD). Several salient observations have emerged. Numerous studies have examined the relationship be...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2017.01.035

    authors： Martineau P,Leslie WD

    更新日期：2017-11-01 00:00:00

  • Genetic variation in the PTH pathway and bone phenotypes in elderly women: evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes.

    abstract：INTRODUCTION:Parathyroid hormone (PTH) is a key regulator of calcium metabolism. Parathyroid hormone-like hormone (PTHrP) contributes to skeletal development through regulation of chondrocyte proliferation and differentiation during early bone growth. Both PTH and PTHrP act through the same receptor (PTHR1). A second r...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2007.12.005

    authors： Tenne M,McGuigan F,Jansson L,Gerdhem P,Obrant KJ,Luthman H,Akesson K

    更新日期：2008-04-01 00:00:00

  • Serum periostin is associated with cancer mortality but not cancer risk in older home-dwelling men: A 8-year prospective analysis of the STRAMBO study.

    abstract：BACKGROUND:Periostin (POSTN) regulates multiple biological behaviors of tumor cells. We studied the association of serum POSTN with mortality in home-dwelling men. METHODS:POSTN was measured at baseline using immunoassay (USCN life science, China) in 815 home-dwelling men aged 60-87 followed-up for 8 years. RESULTS:I...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2019.115184

    authors： Rousseau JC,Bertholon C,Chapurlat R,Szulc P

    更新日期：2020-03-01 00:00:00