Abstract：
:Connective tissue diseases, including osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS), exhibit a high degree of clinical and genetic heterogeneity. We report two sisters with blue sclerae, joint hypermobility and hearing loss. Whole-exome sequencing identified two compound heterozygous ZNF469 loss-of-function mutations due to a frameshift. Since these findings indicate the presence of brittle cornea syndrome (BCS), we performed ocular optical coherence tomography (OCT) and pachymetry, which revealed a moderate decrease in corneal thickness. While only one traumatic fracture was observed in each of the patients, a detailed skeletal assessment indicated no specific patterns of bone mass and microstructure reduction as well as normal bone turnover markers. Taken together, our findings point to a mild form of brittle cornea syndrome with a phenotype compatible with the extraskeletal features of OI but also with EDS.
journal_name
Calcif Tissue Intjournal_title
Calcified tissue internationalauthors
Rolvien T,Kornak U,Linke SJ,Amling M,Oheim Rdoi
10.1007/s00223-020-00721-3subject
Has Abstractpub_date
2020-09-01 00:00:00pages
294-299issue
3eissn
0171-967Xissn
1432-0827pii
10.1007/s00223-020-00721-3journal_volume
107pub_type
杂志文章abstract：:Patients with systemic lupus erythematosus (SLE), a chronic inflammatory disease characterized by loss of T- and B-cell tolerance to autoantigens, are at increased risk for osteoporosis and fractures. Mice deficient in Fc gamma receptor IIb (FcγRIIB) exhibit spontaneous SLE and its restoration rescues the disease. To ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-018-0464-7
更新日期：2018-12-01 00:00:00
abstract：:The primary objective of the present study was to evaluate the impact of physical activity and muscle strength on bone mineral density (BMD) of the tuberositas tibiae in adolescent boys. Two groups with different exercise levels were compared. The high activity group consisted of 20 subjects (age 15.9 +/- 0.3) from a ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02509438
更新日期：1996-06-01 00:00:00
abstract：:In 11 postmenopausal women with histologically proven osteoporosis and normal lactose tolerance, a direct correlation between calcium absorption and intestinal lactase activity was observed. The results suggest that varying degrees of relative deficiencies in intestinal lactase might contribute to the graded decrease ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02557688
更新日期：1985-01-01 00:00:00
abstract：:Bone loss occurs as early as the third decade and its cumulative effect throughout adulthood may impact risk for osteoporosis in later life, however, the genes and environmental factors influencing early bone loss are largely unknown. We investigated the role of genes in the change in bone mineral density (BMD) in par...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-008-9197-3
更新日期：2009-02-01 00:00:00
abstract：:Insulin is a potent stimulator of collagen synthesis and other osteoblastic cell functions. In various insulin-sensitive tissues, stimulation of glucose transport and glycolytic metabolism are hallmarks of insulin action and may play a role in insulin regulation of cellular function. However, the effects of insulin on...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02556657
更新日期：1989-07-01 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：:Cortical bone can be modeled as a complex hierarchical composite interrelating both structure and material properties on four levels of structural organization: molecular, ultrastructural, microscopic, and macroscopic. In young animals, the microstructural systems are long parallel lamellar units, plexiform bone, whic...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02406131
更新日期：1984-01-01 00:00:00
abstract：:Bone and mineral metabolism has been reported to affect the development of the ossification of the posterior longitudinal ligament (OPLL). The aim of this study was to compare bone mineral densities (BMD) and rate of osteoporosis between cervical OPLL and a matched control group. We also investigated the correlation o...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-012-9662-x
更新日期：2013-01-01 00:00:00
abstract：:The aim of this study was to analyze the efficacy of using rhBMP-2 (recombinant human morphogenetic protein-2) in the treatment of patients with cleft lip and palate defects (CLPD). Seven databases were screened: PubMed (Medline), Lilacs, Ibecs, Web of Science, BBO, Scopus, and The Cochrane Library. Clinical trials th...
journal_title：Calcified tissue international
pub_type： 杂志文章,meta分析
doi：10.1007/s00223-018-0486-1
更新日期：2019-02-01 00:00:00
abstract：:X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim of this 6-year prospectiv...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-017-0363-3
更新日期：2018-03-01 00:00:00
abstract：:Whole enamel scrapings from unerupted teeth of embryonic calves have been separated into fractions of varying density by stepwise centrifugation in bromoform-toluene mixtures of increasing specific gravity. Partition of enamel in this manner yields individual fractions of increasing mineral phase age and maturation. W...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02405006
更新日期：1983-01-01 00:00:00
abstract：:The discriminating ability and relevance of clinical risk factors, quantitative ultrasound (QUS) variables, X-ray-based bone mineral density (BMD) and hip axis length (HAL) measurements to evaluate the risk of osteoporotic fracture in elderly Brazilian women were examined in this study. QUS at the calcaneus (Achilles ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-002-1096-4
更新日期：2003-12-01 00:00:00
abstract：:Osteoporosis is characterized by low bone mass and a deterioration of bone architecture and likely is influenced by genetic factors. The ovariectomized (OVX) mouse is well suited for osteoporosis research, as shown to date by cross-sectional studies. Here, we investigate longitudinal changes by in vivo micro-computed ...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-008-9150-5
更新日期：2008-07-01 00:00:00
abstract：:The presence of lipids in urinary stones was determined by histochemical and biochemical methods. When crystals of calcium oxalate, made by mixing calcium chloride and potassium oxalate solutions and sections of human calcium oxalate urinary stones, were exposed to osmium vapors, there was no staining of the pure crys...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02556340
更新日期：1988-02-01 00:00:00
abstract：:To investigate the effect of low doses of intranasal salmon calcitonin on plasma cyclic AMP (cAMP) and serum ionized calcium, 40 healthy postmenopausal women were randomized to receive a single dose of either placebo or 50, 100, or 200 IU of salmon calcitonin as a nasal spray. Blood samples were collected throughout a...
journal_title：Calcified tissue international
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF02555817
更新日期：1990-01-01 00:00:00
abstract：:In several studies on patients with rheumatoid arthritis, an association of bone loss with a persistently high disease activity has been found. The aim of our study was to investigate the relation between disease activity and serum levels of vitamin D metabolites, parathyroid hormone (PTH), and parameters of bone turn...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900416
更新日期：1998-03-01 00:00:00
abstract：:Osteoblasts in vitro differentiate from a proliferating to a mineralizing phenotype upon transfer to a medium rich in beta-glycerophosphate and ascorbic acid. The nutritional requirements of the cells at different stages of this differentiation process are not known. In other cell types, nutritional supplementation du...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-011-9537-6
更新日期：2011-12-01 00:00:00
abstract：:The method of heat-denaturation and trypsin digestion was used to dissect bone biochemically into mineral-protected and mineral-unprotected pools of collagenous matrix. It was found that varying the particle size of the bone powder had a profound effect on the results. Using mature bovine cortical bone, the observed p...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02553750
更新日期：1988-04-01 00:00:00
abstract：:Hip fracture may cause and/or complicate institutionalization. We undertook this study to define its overall prevalence among the residents of four nursing homes in Central Italy as well as its latency and impact on mobility when it occurred within institutions. We also performed a case control analysis with the aim o...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002230001212
更新日期：2001-06-01 00:00:00
abstract：:The European Forsteo Observational Study was designed to examine the effectiveness of teriparatide in postmenopausal women with osteoporosis treated for up to 18 months in normal clinical practice in eight European countries. The incidence of clinical vertebral and nonvertebral fragility fractures, back pain, and heal...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-009-9299-6
更新日期：2009-12-01 00:00:00
abstract：:The effect of SrCl(2) treatment on bone nanostructure in a rat ovariectomy model was studied using scanning small-angle X-ray scattering (sSAXS). Twelve 6-month-old female Wistar rats were used. Six animals were ovariectomized (+ovx) and six were left intact after sham surgery (-ovx). Six animals, three +ovx and three...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-010-9341-8
更新日期：2010-04-01 00:00:00
abstract：:The influence of the macroscale material properties of bone on its mechanical competence has been extensively investigated, but less is known about possible contributions from bone's nanoscale material properties. These nanoscale properties, particularly the collagen network and the size and shape of hydroxyapatite mi...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-014-9913-0
更新日期：2014-11-01 00:00:00
abstract：:N-acetyl-beta-D-glucosaminidase (NAG) is a lysosomal enzyme predominantly located in renal proximal tubules. In idiopathic hypoparathyroidism (IHP), 100 Units of human PTH (1-34) increased urinary excretion of NAG from 0.029 +/- 0.027 to 0.173 +/- 0.035 U/lGF (p less than 0.05) in two patients before treatment and fro...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02556010
更新日期：1989-12-01 00:00:00
abstract：:Effects of a single dose of 200 IU of nasal salmon calcitonin (SCT) on calcium metabolism and biochemical markers of bone turnover were investigated in 12 healthy male volunteers in a randomized, placebo-controlled, cross-over design. The nasal spray was given in the morning, and subsequently blood and urine samples w...
journal_title：Calcified tissue international
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF01320907
更新日期：1993-10-01 00:00:00
abstract：:In general, physical exercise appears to have favorable effects on the skeleton. However, a few recent reports have described negative effects, including reduced bone density (BMD) and high bone turnover in runners. The aim of our study was to compare endurance runners to controls with respect to BMD at different site...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002239900366
更新日期：1997-12-01 00:00:00
abstract：:The native human parathyroid hormone, hPTH-(1-84), and certain carboxyl truncated analogs such as hPTH-(1-34) and even smaller fragments such as hPTH-(1-31)NH2, [Leu27]cyclo(Glu22-Lys26)hPTH-(1-31)NH2, and hPTH-(1-30)NH2 stimulate femoral trabecular and cortical bone growth in ovariectomized (OVX) rats. Here we show t...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s002230010061
更新日期：2000-04-01 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：:We compared indices of three-dimensional microstructure of iliac trabecular bone between 26 patients with vertebral compression fractures due to postmenopausal osteoporosis and 24 control subjects without vertebral fracture, who were matched for age, sex, race, menopausal status, and several densitometric and histolog...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/BF02554913
更新日期：1985-12-01 00:00:00
abstract：:Bone is a dynamic tissue that is able to sense and adapt to mechanical stimuli by modulating its mass, geometry, and structure. Bone marrow stromal cells (BMSCs) are known to play an integral part in bone formation by providing an osteoprogenitor cell source capable of differentiating into mature osteoblasts in respon...
journal_title：Calcified tissue international
pub_type： 杂志文章
doi：10.1007/s00223-003-0104-7
更新日期：2004-05-01 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
