当前位置： SCI文献检索 > BONE期刊下所有文献 > Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.

Abstract：

:Mutations in the SCN8A gene encoding the neuronal voltage-gated sodium channel Nav1.6 are known to be associated with epileptic encephalopathy type 13. We identified a novel de novo SCN8A mutation (p.Phe360Ala, c.1078_1079delTTinsGC, Exon 9) in a 6-year-old girl with epileptic encephalopathy accompanied by severe juvenile osteoporosis and multiple skeletal fractures, similar to three previous case reports. Skeletal assessment using dual energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT) and serum analyses revealed a combined trabecular and cortical bone loss syndrome with elevated bone resorption. Likewise, when we analyzed the skeletal phenotype of 2week-old Scn8a-deficient mice we observed reduced trabecular and cortical bone mass, as well as increased osteoclast indices by histomorphometric quantification. Based on this cumulative evidence the patient was treated with neridronate (2mg/kg body weight administered every 3months), which fully prevented additional skeletal fractures for the next 25months. Taken together, our data provide evidence for a negative impact of SCN8A mutations on bone mass, which can be positively influenced by anti-resorptive treatment.

journal_name

Bone

journal_title

Bone

authors

Rolvien T,Butscheidt S,Jeschke A,Neu A,Denecke J,Kubisch C,Meisler MH,Pueschel K,Barvencik F,Yorgan T,Oheim R,Schinke T,Amling M

doi

10.1016/j.bone.2017.06.025

subject

Has Abstract

pub_date

2017-10-01 00:00:00

pages

136-143

eissn

8756-3282

issn

1873-2763

pii

S8756-3282(17)30224-7

journal_volume

103

pub_type

杂志文章

相关文献

BONE文献大全
  • The response in spinal bone mass to tibolone treatment is related to bone turnover in elderly women.

    abstract：:To determine the ability of bone turnover to predict the response in bone mass during treatment with Tibolone, two biochemical markers of bone metabolism were evaluated [CrossLaps corrected for urinary creatinine (CrossLaps/Cr.) and serum osteocalcin measured in a newly developed assay (N-Mid)]. Data from a 2-year dou...

    journal_title：Bone

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1016/s8756-3282(96)00335-3

    authors： Bjarnason NH,Bjarnason K,Hassager C,Christiansen C

    更新日期：1997-02-01 00:00:00

  • Osteocyte apoptosis regulates osteoclast precursor adhesion via osteocytic IL-6 secretion and endothelial ICAM-1 expression.

    abstract：:Osteocyte apoptosis precedes osteoclast resorption, and may act as a critical signal to trigger bone remodeling. While osteoclast precursors are known to travel via the circulation, the specific mechanisms by which they accumulate at remodeling sites are unclear. We hypothesized that osteocyte apoptosis mediates osteo...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2011.09.052

    authors： Cheung WY,Simmons CA,You L

    更新日期：2012-01-01 00:00:00

  • 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

  • Interaction between human umbilical vein endothelial cells and human osteoprogenitors triggers pleiotropic effect that may support osteoblastic function.

    abstract：:Osteogenesis occurs in striking interaction with angiogenesis. There is growing evidence that endothelial cells are involved in the modulation of osteoblast differentiation. We hypothesized that primary human umbilical vein endothelial cells (HUVEC) should be able to modulate primary human osteoprogenitors (HOP) funct...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2008.01.025

    authors： Guillotin B,Bareille R,Bourget C,Bordenave L,Amédée J

    更新日期：2008-06-01 00:00:00

  • Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization.

    abstract：:Recent increasing evidence supports a role for neuronal type signaling in bone. Specifically glutamate receptors have been found in cells responsible for bone remodeling, namely the osteoblasts and the osteoclasts. While most studies have focused on ionotropic glutamate receptors, the relevance of the metabotropic glu...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2016.10.025

    authors： Musante I,Mattinzoli D,Otescu LA,Bossi S,Ikehata M,Gentili C,Cangemi G,Gatti C,Emionite L,Messa P,Ravazzolo R,Rastaldi MP,Riccardi D,Puliti A

    更新日期：2017-01-01 00:00:00

  • The burden of fractures in Brazil: a population-based study.

    abstract：INTRODUCTION:The elderly population is growing fast worldwide, and therefore, investigation of health outcomes peculiar to these individuals is a public health priority nowadays. The decade between 2000 and 2010 is denominated as the Bone and Joint Decade, and researchers are encouraged to quantity the burden of muscul...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2005.04.002

    authors： Siqueira FV,Facchini LA,Hallal PC

    更新日期：2005-08-01 00:00:00

  • Tetracycline/flurbiprofen combination therapy modulates bone remodeling in ovariectomized rats: preliminary observations.

    abstract：:The loss of trabecular bone in the ovariectomized (OVX) rat provides a useful experimental model of postmenopausal osteoporosis. In this study, two bone-modulating compounds, an NSAID (flurbiprofen: FBP) and a chemically modified nonantimicrobial tetracycline (CMT), were tested either individually or in combination in...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(96)00280-3

    authors： Aoyagi M,Sasaki T,Ramamurthy NS,Golub LM

    更新日期：1996-12-01 00:00:00

  • Effects of recreational team handball on bone health, postural balance and body composition in inactive postmenopausal women - A randomised controlled trial.

    abstract：:This study reports the effects of a recreational team handball exercise programme (randomised controlled trial, RCT) on bone health, postural balance and body composition in inactive postmenopausal women without previous experience of the sport. Sixty-seven postmenopausal women (68.3 ± 6.2 years, stature 156.9 ± 5.8 c...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2021.115847

    authors： Pereira R,Krustrup P,Castagna C,Coelho E,Santos R,Helge EW,Jørgensen NR,Magalhães J,Póvoas S

    更新日期：2021-01-13 00:00:00

  • Vascular endothelial growth factor stimulates chemotactic migration of primary human osteoblasts.

    abstract：:Recent studies have indicated a critical role for vascular endothelial growth factor (VEGF) during the process of endochondral ossification, in particular in coupling cartilage resorption with bone formation. Therefore, we studied the chemoattractive and proliferative properties of human VEGF-A on primary human osteob...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(01)00690-1

    authors： Mayr-Wohlfart U,Waltenberger J,Hausser H,Kessler S,Günther KP,Dehio C,Puhl W,Brenner RE

    更新日期：2002-03-01 00:00:00

  • Epigenetic mechanisms driving lineage commitment in mesenchymal stem cells.

    abstract：:The increasing application of approaches that allow tracing of individual cells over time, together with transcriptomic and epigenomic analyses is changing the way resident stromal stem cells (mesenchymal stem cells) are viewed. Rather than being a defined, homogeneous cell population as described following in vitro e...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2020.115309

    authors： Yianni V,Sharpe PT

    更新日期：2020-05-01 00:00:00

  • The collection of NFATc1-dependent transcripts in the osteoclast includes numerous genes non-essential to physiologic bone resorption.

    abstract：:Osteoclasts are specialized secretory cells of the myeloid lineage important for normal skeletal homeostasis as well as pathologic conditions of bone including osteoporosis, inflammatory arthritis and cancer metastasis. Differentiation of these multinucleated giant cells from precursors is controlled by the cytokine R...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2012.08.113

    authors： Charles JF,Coury F,Sulyanto R,Sitara D,Wu J,Brady N,Tsang K,Sigrist K,Tollefsen DM,He L,Storm D,Aliprantis AO

    更新日期：2012-11-01 00:00:00

  • Relationships between quantitative histological measurements and noninvasive assessments of bone mass.

    abstract：:We performed a comprehensive analysis of the relationships between histologic indices in the iliac crest (cancellous bone volume, trabecular structural indices, cortical width, and core width) and bone density in the spine, hip, and wrist in 81 patients with various metabolic bone diseases including osteoporosis, oste...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/8756-3282(92)90203-9

    authors： Cosman F,Schnitzer MB,McCann PD,Parisien MV,Dempster DW,Lindsay R

    更新日期：1992-01-01 00:00:00

  • Effect of surface roughness on proliferation and alkaline phosphatase expression of rat calvarial cells cultured on polystyrene.

    abstract：:Rough-surfaced substrates made by a variety of methods have been shown to influence osteoblast proliferation and differentiation. The purpose of this study is to confirm the role of surface roughness in promoting osteoblastic differentiation using tissue culture polystyrene as substrate, by excluding factors other tha...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(99)00192-1

    authors： Hatano K,Inoue H,Kojo T,Matsunaga T,Tsujisawa T,Uchiyama C,Uchida Y

    更新日期：1999-10-01 00:00:00

  • Rapid and long-term effects of PTH(1-34) on growth plate chondrocytes are mediated through two different pathways in a cell-maturation-dependent manner.

    abstract：:The aims of this study were to clarify the role of cell maturation stage on chondrocyte response to parathyroid hormone (PTH) by examining the effect of PTH(1-34) on alkaline-phosphatase-specific activity (ALPase) of chondrocyte cultures at two distinct stages of maturation, and to determine the signaling pathways use...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(97)00123-3

    authors： Schwartz Z,Semba S,Graves D,Dean DD,Sylvia VL,Boyan BD

    更新日期：1997-09-01 00:00:00

  • Formoterol and isoproterenol induce c-fos gene expression in osteoblast-like cells by activating beta2-adrenergic receptors.

    abstract：:Formoterol, a beta2-adrenergic agonist has been shown in ovariectomized rat models to have anabolic effects on bone. However, those studies did not determine whether the effect of formoterol was by a direct action on bone cells themselves or indirectly via anabolic action on muscle. To address the question of whether ...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(98)00026-x

    authors： Kellenberger S,Muller K,Richener H,Bilbe G

    更新日期：1998-05-01 00:00:00

  • Mineralisation of collagen rich soft tissues and osteocyte lacunae in Enpp1(-/-) mice.

    abstract：:Ecto-nucleotide pyrophosphatase/phosphodiesterases (NPPs) hydrolyse nucleotide triphosphates to the corresponding nucleotide monophosphates and the mineralisation inhibitor, pyrophosphate (PPi). This study examined the role of NPP1 in osteocytes, osteoclasts and cortical bone, using a mouse model lacking NPP1 (Enpp1(-...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2014.09.016

    authors： Hajjawi MO,MacRae VE,Huesa C,Boyde A,Millán JL,Arnett TR,Orriss IR

    更新日期：2014-12-01 00:00:00

  • Expression of the developmental markers STRO-1 and alkaline phosphatase in cultures of human marrow stromal cells: regulation by fibroblast growth factor (FGF)-2 and relationship to the expression of FGF receptors 1-4.

    abstract：:Autologous marrow stromal cells have been proposed as an adjuvant in the treatment of bone defects and diseases. This will require the development of culture conditions that permit their rapid expansion ex vivo while retaining their potential for further differentiation. Fibroblast growth factor (FGF)-2 has been propo...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(00)00319-7

    authors： Walsh S,Jefferiss C,Stewart K,Jordan GR,Screen J,Beresford JN

    更新日期：2000-08-01 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

  • Immortalized cementoblasts and periodontal ligament cells in culture.

    abstract：:Cementum, a mineralized tissue lining the surface of the tooth root, is required for formation of a functional periodontal ligament attachment during development. Additionally, during regeneration of tissues after disease, cementum is thought to play a critical role in the reparative process. Research efforts aimed to...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(99)00096-4

    authors： D'Errico JA,Ouyang H,Berry JE,MacNeil RL,Strayhorn C,Imperiale MJ,Harris NL,Goldberg H,Somerman MJ

    更新日期：1999-07-01 00:00:00

  • High resolution computed tomography of the vertebrae yields accurate information on trabecular distances if processed by 3D fuzzy segmentation approaches.

    abstract：INTRODUCTION:The structure of trabecular bone represents an aspect of bone properties that affects vertebral bone strength independently of bone mineral density [M. Kleerekoper, A. Villanueva, J. Stanciu, D. Rao, and A. Parfitt. The role of three-dimensional trabecular microstructure in the pathogenesis of vertebral co...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2008.08.131

    authors： Krebs A,Graeff C,Frieling I,Kurz B,Timm W,Engelke K,Glüer CC

    更新日期：2009-01-01 00:00:00

  • Subregional areal bone mineral density (aBMD) is a better predictor of heterogeneity in trabecular microstructure of vertebrae in young and aged women than subregional trabecular bone score (TBS).

    abstract：BACKGROUND:Currently, bone densitometry fails to identify nearly half of those elderly patients at immediate fracture risk. To improve clinical assessment of vertebral fracture risk, we aimed to determine how the DXA-based 2D parameter Trabecular Bone Score (TBS) relates to subregional variability in 3D trabecular micr...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2019.02.014

    authors： Vom Scheidt A,Grisolia Seifert EF,Pokrant C,Püschel K,Amling M,Busse B,Milovanovic P

    更新日期：2019-05-01 00:00:00

  • Proteomic studies of bone and skeletal health outcomes.

    abstract：:Proteins are an essential part of essentially all biological processes, and there is enormous variation in protein forms and concentrations that is not reflected in DNA or RNA. Recently there have been rapid advances in the ability to measure protein sequence, modification and concentration, particularly with methods ...

    journal_title：Bone

    pub_type： 杂志文章,评审

    doi：10.1016/j.bone.2019.03.032

    authors： Nielson CM,Jacobs JM,Orwoll ES

    更新日期：2019-09-01 00:00:00

  • The bisphosphonate zoledronic acid decreases tumor growth in bone in mice with defective osteoclasts.

    abstract：:Bisphosphonates (BPs), bone targeted drugs that disrupt osteoclast function, are routinely used to treat complications of bone metastasis. Studies in preclinical models of cancer have shown that BPs reduce skeletal tumor burden and increase survival. Similarly, we observed in the present study that administration of t...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2009.01.010

    authors： Hirbe AC,Roelofs AJ,Floyd DH,Deng H,Becker SN,Lanigan LG,Apicelli AJ,Xu Z,Prior JL,Eagleton MC,Piwnica-Worms D,Rogers MJ,Weilbaecher K

    更新日期：2009-05-01 00:00:00

  • Surface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE-ASARM motif: a model for impaired mineralization in X-linked rickets (HYP).

    abstract：:Matrix Extracellular Phospho-glycoprotEin (MEPE) and proteases are elevated and PHEX is defective in HYP. PHEX prevents proteolysis of MEPE and release of a protease-resistant MEPE-ASARM peptide, an inhibitor of mineralization (minhibin). Thus, in HYP, mutated PHEX may contribute to increased ASARM peptide release. Mo...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2004.09.015

    authors： Rowe PS,Garrett IR,Schwarz PM,Carnes DL,Lafer EM,Mundy GR,Gutierrez GE

    更新日期：2005-01-01 00:00:00

  • Adiponectin as a novel determinant of bone mineral density and visceral fat.

    abstract：:Growing evidence suggests that positive associations between fat mass (FM) and bone mineral density (BMD) are mediated by not only biomechanical but also biochemical factors. Adiponectin is a novel adipocyte-derived hormone that regulates energy homeostasis and has anti-inflammatory and anti-atherogenic effects. Unlik...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/s8756-3282(03)00237-0

    authors： Lenchik L,Register TC,Hsu FC,Lohman K,Nicklas BJ,Freedman BI,Langefeld CD,Carr JJ,Bowden DW

    更新日期：2003-10-01 00:00:00

  • Photo-cured hyaluronic acid-based hydrogels containing growth and differentiation factor 5 (GDF-5) for bone tissue regeneration.

    abstract：:In this study we describe the generation and influences on in vitro and in vivo osteogenesis of photo-cured hyaluronic acid (HA) hydrogels loaded with growth and differentiation factor 5 (GDF-5). Prior to loading GDF-5, we characterized the release profiles from these hydrogels and tested their respective cell viabili...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2013.11.019

    authors： Bae MS,Ohe JY,Lee JB,Heo DN,Byun W,Bae H,Kwon YD,Kwon IK

    更新日期：2014-02-01 00:00:00

  • The limitations of using simple definitions of glucocorticoid exposure to predict fracture risk: A cohort study.

    abstract：PURPOSE:To evaluate the effects of different definitions of glucocorticoid (GC) exposure on the magnitude and pattern of fracture risk using the same dataset. METHODS:Data from patients with rheumatoid arthritis (RA) were extracted from the Clinical Practice Research Datalink, a primary care database with electronic h...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2018.09.004

    authors： Robinson DE,van Staa TP,Dennison EM,Cooper C,Dixon WG

    更新日期：2018-12-01 00:00:00

  • Time course of "escape" from calcitonin-induced inhibition of motility and resorption of disaggregated osteoclasts.

    abstract：:The reversible calcitonin (CT)-induced inhibition of osteoclastic activity has been studied to clarify the mechanisms responsible for the so-called "escape phenomenon." Osteoclasts disaggregated from neonatal rabbits were cultured on glass coverslips or thin bovine bone slices. Resorption activity was evaluated by usi...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/8756-3282(89)90010-0

    authors： Kanehisa J

    更新日期：1989-01-01 00:00:00

  • Local delivery of osteoprotegerin inhibits mechanically mediated bone modeling in orthodontic tooth movement.

    abstract：INTRODUCTION:The RANKL-OPG axis is a key regulator of osteoclastogenesis and bone turnover activity. Its contribution to bone resorption under altered mechanical states, however, has not been fully elucidated. Here we examined the role of OPG in regulating mechanically induced bone modeling in a rat model of orthodonti...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/j.bone.2007.04.194

    authors： Dunn MD,Park CH,Kostenuik PJ,Kapila S,Giannobile WV

    更新日期：2007-09-01 00:00:00

  • Intermittent treatment of prostaglandin E2 with risedronate is more anabolic than prostaglandin E2 alone in the proximal tibial metaphysis of ovariectomized rats.

    abstract：:This study is designed to test how intermittent application of prostaglandin E2 (PGE2) and risedronate (Ris) alone or in combination acts on the cancellous bone mass in estrogen-deficient rats. Sprague-Dawley rats were ovariectomized (ovx) or sham-ovx'd at 6 months of age. PGE2 (6mg/kg/d), Ris (5 micrograms/kg/twice a...

    journal_title：Bone

    pub_type： 杂志文章

    doi：10.1016/8756-3282(95)00305-w

    authors： Chen HK,Jee WS,Ma YF,Pan Z,McOsker JE,Li XJ

    更新日期：1995-10-01 00:00:00