Abstract：
:Melorheostosis is an exceptionally rare sclerosing hyperostosis that typically affects the appendicular skeleton in a limited segmental fashion. It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by germline mutations in LEMD3, encoding the inner nuclear membrane protein MAN1, which modulates TGFβ/bone morphogenetic protein signalling. Recent studies of melorheostosis lesional tissue indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways, such as KRAS. Those cases associated with MAP2K1 mutations are more likely to have the classic "dripping candle wax" appearance on radiographs. The relationship between these somatic mutations and those found in a variety of malignant conditions is discussed. There are also similar germline mutations involved in a group of genetic disorders known as the RASopathies (including Noonan syndrome, Costello syndrome and various cardiofaciocutaneous syndromes), successful treatments for which could be applied to melorheostosis. The diagnosis and management of melorheostosis are discussed; there are 4 distinct radiographic patterns of melorheostosis and substantial overlap with mixed sclerosing bone dysplasia. Medical treatments include bisphosphonates, but definitive guidance on their use is lacking given the small number of patients that have been studied. Surgical intervention may be required for those with large bone growths, nerve entrapments, joint impingement syndromes or major limb deformities. Bone regrowth is uncommon after surgery, but recurrent contractures represent a major issue in those with extensive associated soft tissue involvement.
journal_name
Calcif Tissue Intjournal_title
Calcified tissue internationalauthors
Wordsworth P,Chan Mdoi
10.1007/s00223-019-00543-ysubject
Has Abstractpub_date
2019-05-01 00:00:00pages
530-543issue
5eissn
0171-967Xissn
1432-0827pii
10.1007/s00223-019-00543-yjournal_volume
104pub_type
杂志文章,评审abstract：:Further insight into human tooth enamel, dense fraction (TE), has been obtained by following the change and loss of CO3(2-), OH-, structurally incorporated H2O, Cl-, and, indirectly, HPO4(2-) after TE had been heated in N2 or vacuum in the range 25-1000 degrees C. Quantitative infrared spectroscopic, lattice parameter...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02407181
更新日期：1980-01-01 00:00:00
abstract：:In order to determine whether the bacterial bone resorbing agents lipopolysaccharide (LPS) and muramyl dipeptide (MDP) interact with osteoblasts, their effect on the synthesis of collagenase and tissue inhibitor or metalloproteinases (TIMP) from monolayer cultures of mouse osteoblast-like cells was investigated. All c...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02556318
更新日期：1989-05-01 00:00:00
abstract：:To experimentally examine the participation of amelogenins in controlled mineral-phase maturation of mammalian enamel, the identification of the individual proteins and their corresponding gene(s) is required. For this purpose, cDNAs were constructed from polyadenylated RNA from 2-day postnatal murine teeth, molecular...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02556627
更新日期：1987-04-01 00:00:00
abstract：:Tartrate resistant acid phosphatase (TRAP) has been proposed as a new biochemical marker for bone resorption. We have compared this new marker, TRAP, with the classical biochemical markers of bone remodelling, serum alkaline phosphatase (sAP), serum osteocalcin (sBGP), and with the urinary hydroxyproline/creatinine ra...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02555896
更新日期：1991-07-01 00:00:00
abstract：:Studies of the effect of parathyroidectomy (PTX) on bone turnover in patients with the combination of primary hyperparathyroidism (PHPT) and Paget's disease (PD) are largely limited to case reports. The etiology of the combination is disputed. We report 30 patients and their biochemical (n = 17) and histomorphometric ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900728
更新日期：1999-12-01 00:00:00
abstract：:Amelogenins, the major protein components of the enamel extracellular matrix, are postulated to be involved in controlling the elongated and oriented growth of enamel carbonated apatite crystals. In order to clarify the functional role of amelogenin during the early stage of enamel biomineralization, octacalcium phosp...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-002-0011-3
更新日期：2004-06-01 00:00:00
abstract：:The binding of prostaglandin E2 (PGE2) to bone cells was studied to provide direct evidence for the existence of specific receptors in bone. Bone cells were isolated by collagenase digestion of fetal and newborn rat calvaria. Isolated cells were incubated with 3H-PGE2 and collected on Millipore filters. Specific bindi...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405038
更新日期：1983-01-01 00:00:00
abstract：:This study investigated whether bone turnover influences the response to alendronate in women with postmenopausal osteoporosis. One hundred postmenopausal osteoporotic women were randomized to receive either alendronate (10 mg/day) plus calcium (1000 mg/day) (n = 50) or calcium alone (n = 50). Vertebral and radial bon...
journal_title：Calcified tissue international
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/s002239900713
更新日期：1999-11-01 00:00:00
abstract：:The ultimate hope of researchers and patients is a pathway to development of treatments for osteoarthritis to modify the disease process in addition to the symptoms. However, development of disease modifying drugs requires objective endpoints such as measures of joint structure, joint tissue homeostasis and/or joint s...
journal_title：Calcified tissue international
pub_type： 杂志文章,评审
doi：10.1007/s00223-020-00701-7
更新日期：2020-05-04 00:00:00
abstract：:1,25 Dihydroxyvitamin D3 (1,25(OH)2D3) (2.0 micrograms) was given intramuscularly to 6 healthy adult males. Twenty-four circadian patterns of blood-ionized calcium (Ca2+), serum phosphate (Pi), and total calcium (CaT) were assessed pre- and posthormone administration. Correlations of mean mineral rhythms with normativ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02553700
更新日期：1985-07-01 00:00:00
abstract：:A whole-body counter was used to measure the retention and distribution of radioactivity along the longitudinal axis of the body during 10 days after the intravenous injection of 50 microCi of 47Ca. These data and the simultaneous measurements of the serum specific activity allowed us to calculate, by the Bauer-Carlss...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405001
更新日期：1983-01-01 00:00:00
abstract：:Macroporous biphasic calcium phosphate (MBCP) blocks were implanted into rabbit trabecular bone and muscle, recovered 18 weeks later, and then observed and analyzed by transmission electron microscopy (TEM), electron diffraction, and electron microprobes. The results showed that (1) apatitic microcrystals appeared by ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/pl00005825
更新日期：1999-05-01 00:00:00
abstract：:Bone collagen undergoes a series of enzymatic and nonenzymatic posttranslational modifications with maturation. The aim of this study was to analyze the collagenolytic efficiency of cathepsin K in relation to the extent of bone collagen age. Bone collagen posttranslational maturation was induced in vitro by preincubat...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-012-9604-7
更新日期：2012-07-01 00:00:00
abstract：:Osteoclasts are multinucleated cells that carry out bone resorption. Analysis of the direct effect of hormones on the bone-resorbing activity of human osteoclasts has been limited by difficulties in isolating these cells from the human skeleton. In this study, human osteoclasts formed from cultures of peripheral blood...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-001-2128-1
更新日期：2002-12-01 00:00:00
abstract：:The calcium ion binding properties of a high molecular weight bovine phosphophoryn preparation have been studied at high ionic strength (0.5 M KCl as supporting electrolyte). Surprisingly, even under these conditions at which intermolecular ionic interactions are effectively screened, phosphophoryn was capable of bind...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02555712
更新日期：1987-02-01 00:00:00
abstract：:The purpose of this study was to examine the influence of exercise on the serum concentrations of intact parathyroid hormone (PTH). Serum PTH and plasma lactate were measured in 15 well-trained men, 9 long-distance runners and 6 fire-fighters, during two running exercises. Test one consisted of 40-minute treadmill run...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF00295947
更新日期：1994-04-01 00:00:00
abstract：:The DMS Lexxos is the first cone-beam dual X-ray absorptiometry (DXA) system capable of performing bone mineral density (BMD) measurements of the spine and hip. By using a two-dimensional (2-D) detector array rather than the linear array used with conventional fan-beam DXA systems, image acquisition time on Lexxos is ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-004-0080-6
更新日期：2005-02-01 00:00:00
abstract：:We investigated whether polymorphisms in PTHR1 are associated with bone mineral density (BMD), to determine whether the association of this gene with BMD was due to effects on attainment of peak bone mass or effects on subsequent bone loss. The PTHR1 gene, including its 14 exons, their exon-intron boundaries, and 1,50...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-007-9072-7
更新日期：2007-10-01 00:00:00
abstract：:The aim of this study was to investigate bone mineral density (BMD) and bone turnover in patients with primary knee osteoarthritis (KOA) and to compare them with generalized OA (GOA) and nonGOA patients. A total of 88 postmenopausal primary KOA patients were studied. OA was graded by using knee radiographs. BMD of the...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002230010068
更新日期：2000-05-01 00:00:00
abstract：:Thyroxine (T4), triiodothyronine (T3), and alkaline phosphatase (AP) were assayed monthly in white-tailed deer plasma obtained from the antler (A), jugular (J), and the saphenous (S) veins during the period of antler growth and the period of mineralization. The concentrations of T3, T4, and AP in the J and S were not ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02555129
更新日期：1987-07-01 00:00:00
abstract：:Sarcopenia is now clinically defined as a loss of muscle mass coupled with functional deterioration (either walking speed or distance or grip strength). Based on the FRAX studies suggesting that the questions without bone mineral density can be used to screen for osteoporosis, there is now a valid simple questionnaire...
journal_title：Calcified tissue international
pub_type： 杂志文章,评审
doi：10.1007/s00223-015-0022-5
更新日期：2016-04-01 00:00:00
abstract：:The fossil record shows that bone remodeling has existed since the earliest large vertebrates became weight-bearing on land, but the functions of remodeling have long been debated. The principal protagonists in this debate have been those favoring a mechanical function and those asserting that remodeling serves to mov...
journal_title：Calcified tissue international
pub_type： 杂志文章,评审
doi：10.1007/s00223-002-1059-9
更新日期：2003-08-01 00:00:00
abstract：:Glucocorticoid-induced osteoporosis has been reported to be caused by enhanced bone resorption and suppressed bone formation. To clarify whether administration of vitamin K, which enhances bone formation, prevents prednisolone-induced loss of bone mineral density (BMD), a randomized, prospective, controlled study was ...
journal_title：Calcified tissue international
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/pl00005832
更新日期：2000-02-01 00:00:00
abstract：:The acute-phase response (APR) is a frequent occurrence after infusion of zoledronic acid and is caused by activation of γδ T cells. Vitamin D receptor is expressed in immune cells, and vitamin D has immunomodulatory properties. The aim of this prospective study was to test the effect of vitamin D (cholecalciferol) on...
journal_title：Calcified tissue international
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00223-012-9577-6
更新日期：2012-04-01 00:00:00
abstract：:MicroRNAs (miRNAs/miRs) are important biomarkers for the progression of intervertebral disc degeneration (IDD). We investigated the role of miR-30d in IDD progression through its interactions with forkhead box O3 (FOXO3) and C-X-C motif ligand 10 (CXCL10). We first measured the expression of miR-30d, FOXO3, and CXCL10...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-020-00760-w
更新日期：2021-02-01 00:00:00
abstract：:The objective of this study was to compare the bone mineral density (BMD) of men with Down syndrome (DS) to otherwise mentally retarded (MR) men and to investigate whether leg muscle strength of these patients is related to BMD. Two groups with MR (with and without DS) participated in the study, having met the followi...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002230010035
更新日期：2000-03-01 00:00:00
abstract：:Regular exercise and physical activity (PA) are known to be protective factors for maintaining bone mineral density (BMD) and preventing osteoporotic fracture. We investigated the associations between leisure-time PA and BMD in 2,903 premenopausal and 2,267 postmenopausal women in Korea. BMDs of the lumbar spine and f...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-012-9624-3
更新日期：2012-09-01 00:00:00
abstract：:In adult human bone, fluoride uptake is accompanied by an increase in apatite crystal size. This increase, however, is not isotropic but is restricted primarily to growth in width and/or thickness, with no measurable change in length. In the present study, seeded growth experiments were conducted in vitro to determine...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900522
更新日期：1998-09-01 00:00:00
abstract：:We examined the osteogenesis process in transforming growth factor beta 1 (TGF-beta 1)-treated neonatal and adult rats, aiming to investigate the age difference in the effect of TGF-beta 1 on mesenchymal cell differentiation. Recombinant human (rh) TGF-beta 1 (20 and 200 ng) was injected onto the outer periostea of th...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF01321890
更新日期：1993-08-01 00:00:00
abstract：:Non-steroidal anti-inflammatory drugs (NSAID) have been recommended to prevent of heterotopic ossification (HO) after total hip arthroplasty (THA), but debates are still ongoing. The present Bayesian network meta-analysis of randomized clinical trials (RCTs) compared all available pathways of NSAID treatment as prophy...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-020-00763-7
更新日期：2021-02-01 00:00:00
