Abstract：
:Bruck syndrome is a rare autosomal recessive form of osteogenesis imperfecta (OI), which is mainly characterized by joint contractures and recurrent fragility fractures. Mutations in FKBP10 and PLOD2 were identified as the underlying genetic defects of Bruck syndrome. Here we investigated the phenotypes and the pathogenic mutations of three unrelated Chinese patients with Bruck syndrome. Clinical fractures, bone mineral density (BMD), bone turnover biomarkers, and skeletal images were evaluated in detail. The pathogenic mutations were identified by targeted next-generation sequencing and subsequently confirmed by Sanger sequencing and cosegregation analysis. We also evaluated the effects of zoledronic acid on bone fracture incidence and BMD of the patients. Three patients had congenital joint contractures, recurrent fragility fractures, camptodactyly, clubfoot, scoliosis, but without dentinogenesis imperfecta and hearing loss. Five novel heterozygous mutations were detected in PLOD2, including three heterozygous missense mutations (c.1138C>T, p.Arg380Cys; c.1153T>C, p.Cys385Arg; and c.1982G>A, p.Gly661Asp), one heterozygous nonsense mutation (c.2038C>T, p.Arg680X), and one heterozygous splice-site mutation (c.503-2A>G). Their parents were all heterozygous carriers of these mutations in PLOD2. No clear genotype-phenotype correlations were found in these patients with PLOD2 mutations. Z-score of BMD was significantly increased, but scoliosis progressed and new bone fractures occurred during the treatment of zoledronic acid. Our findings expanded the spectrum of gene mutations of Bruck syndrome.
journal_name
Calcif Tissue Intjournal_title
Calcified tissue internationalauthors
Lv F,Xu X,Song Y,Li L,Asan,Wang J,Yang H,Wang O,Jiang Y,Xia W,Xing X,Li Mdoi
10.1007/s00223-017-0360-6subject
Has Abstractpub_date
2018-03-01 00:00:00pages
296-309issue
3eissn
0171-967Xissn
1432-0827pii
10.1007/s00223-017-0360-6journal_volume
102pub_type
杂志文章abstract：:The effects of fluoride on human enamel and selachian enameloid in vitro were visualized in TEM and analyzed with electron diffraction. It is demonstrated that under precise pH conditions, inducing concentration balance between F-ions and apatite, calcium fluoride is no longer formed, and crystalline changes occur ins...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02409406
更新日期：1981-01-01 00:00:00
abstract：:Noncarious cervical lesions have a multifactorial etiology. Mechanical stress has been identified as one of the factors, but little evidence exists for its cause-effect relationship. This study was conducted at three different pH levels to observe the surface loss on dentin beams under tension and compression. Bovine ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-005-0271-9
更新日期：2006-12-01 00:00:00
abstract：:Increased bone loss has been noted in lymphoma patients; however, the incidence of hip fracture is not known. The aim of our study was to explore the risk for hip fracture in patients with lymphoma compared with the entire Swedish population. The risk of hip fracture was determined in a retrospective population cohort...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-020-00674-7
更新日期：2020-06-01 00:00:00
abstract：:Two rheumatic syndromes associated with deposition of calcium phosphate crystals in soft tissues of the shoulder have prompted us to study the cellular mechanisms of calcium phosphate crystal solubilization. Synthetic 45Ca labeled calcium phosphate crystal aggregates were solubilized by cultured human fibroblasts or m...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405384
更新日期：1984-12-01 00:00:00
abstract：:The crystallinity of bone mineral at different stages of maturation has been measured by quantitative X-ray diffraction methods. Crystallinity measurements were made on tibial mid-diaphyses from 17-day embryonic chicks, newly-formed periosteal bone from embryonic chicks, and density-fractionated bone from post-hatch c...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405032
更新日期：1983-01-01 00:00:00
abstract：:The histologic heterogeneity of osteoporosis relative to normal controls has attracted great interest. There has been controversy as to whether patients with high turnover osteoporosis may convert to a normal or low turnover form, and vice versa. We have studied 44 patients over 12 years by dynamic histomorphometry an...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF00675620
更新日期：1993-01-01 00:00:00
abstract：:We have examined the effect of the anti-tumor compound taxol, on osteoclastic bone resorption. In the bone slice assay, taxol (0.1-0.001 microM) dose-dependently inhibited bone resorption with an IC50 of 0.08 microM. Osteoclast survival on bone slices was unaffected by 0.01-1 microM taxol, but 10 microM was cytotoxic....
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF00301951
更新日期：1995-12-01 00:00:00
abstract：:Cross-sectional and case-control studies are efficient and inexpensive approaches to the study of osteoporosis; their validity depends primarily on how the subjects are sampled. Retrospective studies of fractures may be biased if measurements change as a result of the fracture. Prospective cohort studies are less pron...
journal_title：Calcified tissue international
pub_type： 杂志文章,评审
doi：10.1007/BF02555081
更新日期：1991-01-01 00:00:00
abstract：:Our objective was to assess the effects of HIV infection and antiretroviral therapy on trabecular and cortical microarchitecture in postmenopausal minority women. A subgroup of 106 (46 HIV-infected, 60 uninfected) postmenopausal Hispanic and African American women from an established cohort had areal bone mineral dens...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-013-9716-8
更新日期：2013-06-01 00:00:00
abstract：:Results of previous studies suggest that children and adolescents with osteogenesis imperfecta (OI) type IV have muscle force deficits. However, muscle function remains to be objectively quantified in this population. This study aimed to assess upper and lower extremity muscle function in patients with OI type IV. It ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-017-0287-y
更新日期：2017-10-01 00:00:00
abstract：:Vitamin D supplementation is recommended for women with osteoporosis. In the FOCUS-D trial comparing the combination tablet alendronate plus vitamin D3 5,600 IU (ALN/D) with standard care (SC) prescribed by patients' personal physicians, ALN/D was more effective in improving serum 25(OH)D and bone turnover markers by ...
journal_title：Calcified tissue international
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1007/s00223-013-9763-1
更新日期：2014-02-01 00:00:00
abstract：:Sustained exposure to high levels of parathyroid hormone (PTH), as observed in hyperparathyroidism, is catabolic to bone. The increase in the RANKL/OPG ratio in response to continuous PTH, resulting in increased osteoclastogenesis, is well established. However, the effects of prolonged PTH exposure on key regulators o...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-016-0176-9
更新日期：2016-11-01 00:00:00
abstract：:Pleiotrophin (PTN) was found to have potent effects on regulation of osteoblast recruitment, proliferation and differentiation. The present study examined the long-term effects of targeted PTN over-expression on bone development and repair in a transgenic mouse model. Femurs and tibiae from the PTN transgenic mice and...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-004-0145-6
更新日期：2005-04-01 00:00:00
abstract：:Conventional transmission electron microscopy requires an effective dehydration of the tissue specimens under investigation. This dehydration, for which ethanol most often is used, may influence the solubility of the slightly soluble calcium phosphates. To study the behavior of calcium phosphates in ethanol, stable ne...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02554840
更新日期：1985-03-01 00:00:00
abstract：:At 4 and 24 hours after injection of (35S)sulfate, there were 22-67% fewer silver grains on conventionally fixed sections than on sections fixed by cryotechniques. Differences were smaller when (3H) glucosamine was chosen as precursor. The number of silver grains increased between 4 and 24 hours in predentine and in a...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02557834
更新日期：1985-09-01 00:00:00
abstract：:Inoculation of Moloney murine sarcoma virus (M-MSV) into shank muscles of adult NMRI mice resulted in localized sarcoma and periosteal membrane proliferation with subsequent periosteal bone formation. Newly formed bone arose from outer surface of shank bones. Two weeks after M-MSV inoculation the width of bone cortex ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02409426
更新日期：1981-01-01 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 frequently observed in patients treated with intravenous (iv) zoledronate (ZOL). We investigated whether a short course of rosuvastatin (ROSU) could attenuate the ZOL--induced APR through blocking the mevalonate pathway at a proximal level. Twenty-eight osteoporotic postmenopausal wom...
journal_title：Calcified tissue international
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00223-011-9468-2
更新日期：2011-05-01 00:00:00
abstract：:Forty 5-week-old rats were randomly divided into 1 control group given a normal diet and water low in fluoride (0.026 mM/1) and experimental group receiving the same basic diet and a fluoride supplement of 2.6 mMol/l in the drinking water. After 30 weeks, half of the fluoride-supplemented and half of the nonsupplement...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405089
更新日期：1983-07-01 00:00:00
abstract：:A 69-year-old man became hypocalcemic under medical observation. The hypocalcemia occurred in the presence of circulating immunoreactive parathyroid hormone (PTH). Common causes of secondary hyperparathyroidism were excluded, as was PTH resistance using PTH infusions. The immunoreactive PTH was examined in detail. PTH...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF00298499
更新日期：1992-08-01 00:00:00
abstract：:Ribbon-like crystals, from developing enamel of human fetuses, were studied by high resolution electron microscopy. These crystals were classically described as the first organized mineral formed during amelogenesis. They were characterized by a mean width-to-thickness ratio (W.T-1) of 9.5, and 40% were bent. On latti...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF00334485
更新日期：1992-10-01 00:00:00
abstract：:To define the quantitative aspects of ossification of human fetal spine, we performed a high resolution densitometric study by lateral and postero-anterior scanning of five fetal spines (18-36 weeks of conceptual age) and one spine of a 4-month-old infant. The data were plotted against developmental age for each spine...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF00299001
更新日期：1995-07-01 00:00:00
abstract：:Osteoarthritis and sarcopenia are the most frequently described musculoskeletal disorders in older persons but the intertwining of these conditions and of their functional and cellular causes is complex. This narrative review aims to identify the links between osteoarthritis and sarcopenia described 1-in clinical stud...
journal_title：Calcified tissue international
pub_type： 杂志文章,评审
doi：10.1007/s00223-020-00703-5
更新日期：2020-09-01 00:00:00
abstract：:An experimental fracture model was used to assess bone mineral density at the fracture site by peripheral computed tomography and to compare the model with biomechanical, histological, and radiographic methods for the quantification of the fracture repair process. Transverse osteotomies in the mid-diaphysis of 28 tibi...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900213
更新日期：1997-02-01 00:00:00
abstract：:Calcaneus bone mineral density (BMD) of 738 Japanese women (605 healthy and 133 with osteoporosis) was measured using single X-ray absorptiometry (SXA). A reference range of calcaneus BMD values for healthy Japanese women was established and the usefulness of this method for screening and diagnosis of osteoporosis was...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900665
更新日期：1999-08-01 00:00:00
abstract：:Recommendations from the FNIH Sarcopenia Project are that appendicular lean mass (ALM, kg) adjusted for body mass index (BMI, kg/m2) be used for identifying low lean mass, with ALM/BMI cutpoints of < 0.789 m2 for men and < 0.512 m2 for women. We report normative ALM/BMI values for Australian adults, and compare the pe...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-018-0506-1
更新日期：2019-04-01 00:00:00
abstract：:The relationship between bisphosphonate-induced bone mineral density (BMD) gains and antifracture efficacy remains to be fully elucidated. Data from two antifracture studies were analyzed. Postmenopausal osteoporotic women received oral (2.5 mg daily, 20 mg intermittent) or intravenous (0.5 mg, 1 mg quarterly) ibandro...
journal_title：Calcified tissue international
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00223-010-9403-y
更新日期：2010-10-01 00:00:00
abstract：:Periodic fringes corresponding to six different lattice planes have been observed in apatite crystals of human normal alveolar bone by transmission electron microscopy. Three of these sets of fringes have spacings less than 3.5 A corresponding to the Scherzer resolution of the microscope used. The (0002) lattice plane...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02556695
更新日期：1987-06-01 00:00:00
abstract：:Normal rat bone maturation has been studied using biochemical methods and hydrazine separation of matrix and mineral for X-ray diffraction. In the bone, the amount of mineral increases between 4 and 22 weeks of age, while in the matrix, the ratio of noncollagenous protein to collagen progressively decreases. In minera...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02407162
更新日期：1980-01-01 00:00:00
abstract：:Unfixed, undecalcified sections from closed fractures of rat metatarsals have been studied by quantitative cytochemistry from the first week after fracture to late in the fracture-healing process. Alkaline phosphatase activity appeared to be related to calcification. Glucose 6-phosphate dehydrogenase activity was asso...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405007
更新日期：1983-01-01 00:00:00
