Calcified Tissue International最新文献

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The Management of Bone Defects in Rett Syndrome. Rett综合征骨缺损的处理。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-01-03 DOI: 10.1007/s00223-024-01322-0
Carla Caffarelli, Stefano Gonnelli
{"title":"The Management of Bone Defects in Rett Syndrome.","authors":"Carla Caffarelli, Stefano Gonnelli","doi":"10.1007/s00223-024-01322-0","DOIUrl":"10.1007/s00223-024-01322-0","url":null,"abstract":"<p><p>Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The neurological and non-neurological manifestations of RS vary widely in severity depending on the specific mutation type. Bone complications, mostly scoliosis but also osteoporosis, hip displacement, and a high rate of fractures, are among the most prevalent non-neurological comorbidities observed in girls with RS. Low bone mineral density (BMD) is primarily due to a slow rate of bone formation due to dysfunctional osteoblast activity. The use of anticonvulsants, immobilization, low physical activity, poor nutrition, and inadequate vitamin D intake all significantly hamper skeletal maturation and the accumulation of bone mass in RS girls, making them more susceptible to fragility fractures. In RS patients, the upper and lower limbs are the most common sites for fractures which are due to both a reduced BMD and a diminished bone size. This review summarizes the knowledge on risk factors for fragility fracture in patients with RS and proposes a potential diagnostic and therapeutic pathway to enhance low BMD and mitigate the risk of fragility fractures. In particular, this review focused on the importance of clinical and instrumental evaluation of bone status as a basis for adequate planning of nutritional, pharmacological, and surgical interventions to be undertaken. Additionally, the management of bone defects in individuals with RS should be customized to meet each person's specific needs, abilities, and general health.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"11"},"PeriodicalIF":3.3,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Overexpression of miR17 ~ 92 in Myeloid Cells in Mice Increased Bone Mass Through Reduced Bone Resorption and Increased Bone Formation in Sex-Dependent Manner. 小鼠骨髓细胞中miR17 ~ 92的过表达通过减少骨吸收和增加骨形成以性别依赖的方式增加骨量。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-01-03 DOI: 10.1007/s00223-024-01325-x
Matilda H-C Sheng, Virginia M Stiffel, Jordan Taipia, Charles H Rundle, Kin-Hing William Lau
{"title":"Overexpression of miR17 ~ 92 in Myeloid Cells in Mice Increased Bone Mass Through Reduced Bone Resorption and Increased Bone Formation in Sex-Dependent Manner.","authors":"Matilda H-C Sheng, Virginia M Stiffel, Jordan Taipia, Charles H Rundle, Kin-Hing William Lau","doi":"10.1007/s00223-024-01325-x","DOIUrl":"10.1007/s00223-024-01325-x","url":null,"abstract":"<p><p>This study assessed the feasibility of miR17 ~ 92-based antiresorptive strategy by determining the effects of conditional transgenic (cTG) overexpression of miR17 ~ 92 in myeloid cells on bone and osteoclasts. Osteoclasts of male and female cTG mutant mice each showed 3- to fivefold overexpression of miR17 ~ 92 cluster genes compared to those of age- and sex-matched wildtype (WT) littermates. Male but not female cTG mutant mice had more trabecular and cortical bones as well as lower bone resorption reflected by reduction in osteoclast number and resorbing surface. Osteoclasts of male but not female cTG mutants showed decreased bone resorption activity. Consistent with suppression of osteoclast maturation, osteoclasts of male cTG mutants were smaller, contained less nuclei, showed reduced levels of mRNA of genes associated with osteoclast differentiation and fusion, and formed more diffused actin ring. Osteoclastic overexpression of miR17 ~ 92 also increased bone formation, but the increase was much larger in males than in females. The increase in male mutants was due to higher mineral apposition rate, and conversely, it was caused by increasing bone-forming surface in female mutants. In summary, osteoclastic overexpression of miR17 ~ 92 increased bone mass through reduction in bone resorption along with coupled increase in bone formation in male-specific manner. Although the osteoclastic overexpression of miR17 ~ 92-induced suppression of bone resorption and increases in bone formation support the feasibility of miR17 ~ 92-based antiresorptive strategies, the male-specific sexual disparity in skeletal responses to osteoclastic overexpression of miR17 ~ 92 could limit its clinical utility as it may not be used in women with postmenopausal osteoporosis.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"9"},"PeriodicalIF":3.3,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11698891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Announcing a New Chapter for Calcified Tissue International & Musculoskeletal Diseases. 宣布钙化组织国际与肌肉骨骼疾病的新篇章。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-27 DOI: 10.1007/s00223-024-01308-y
René Rizzoli, Nicholas C Harvey
{"title":"Announcing a New Chapter for Calcified Tissue International & Musculoskeletal Diseases.","authors":"René Rizzoli, Nicholas C Harvey","doi":"10.1007/s00223-024-01308-y","DOIUrl":"https://doi.org/10.1007/s00223-024-01308-y","url":null,"abstract":"","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"7"},"PeriodicalIF":3.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Individuals with Knee Osteoarthritis and Osteoporosis Represent a Distinctive Subgroup Whose Symptoms Originate from Differences in Subchondral Bone Rather than Cartilage. 膝关节骨性关节炎和骨质疏松症患者是一个独特的亚群体,其症状源于软骨下骨而非软骨的差异。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-14 DOI: 10.1007/s00223-024-01315-z
Andy K O Wong, Ali M Naraghi, Linda Probyn
{"title":"Individuals with Knee Osteoarthritis and Osteoporosis Represent a Distinctive Subgroup Whose Symptoms Originate from Differences in Subchondral Bone Rather than Cartilage.","authors":"Andy K O Wong, Ali M Naraghi, Linda Probyn","doi":"10.1007/s00223-024-01315-z","DOIUrl":"https://doi.org/10.1007/s00223-024-01315-z","url":null,"abstract":"<p><p>To explore the hypothesis that knee osteoarthritis patients with osteoporosis represent a sub-cohort with different disease characteristics and origin of symptoms. Men and women in the Osteoarthritis Initiative (OAI) at visit 5 (36 months) were examined for osteoporosis (N = 1483) using DXA (T-score at femoral neck ≤ -2.5), use of bisphosphonates, or having experienced a fracture. Those with and without osteoporosis were compared by subchondral bone quality, bone marrow lesion (BML) properties, and cartilage thickness from MRI, with general linear modeling. Relationships between symptoms (12 months later) and each of cartilage or subchondral bone features were examined conditional on osteoporosis status. Overall, 15.2% of 1246 participants (825 women, 658 men, mean age: 64.4 ± 8.9yrs, BMI: 30.1 ± 4.9 kg/m<sup>2</sup>) with knee OA likely had osteoporosis and showed lower medial and lateral subchondral bone density, smaller trabecular number and larger trabecular separation (all p < 0.01) compared to those without. Cartilage thickness appeared lower in this group (p = 0.04) but only by a small amount. Knee symptoms correlated with both BML properties and cartilage thickness; the latter but not the former being moderated by osteoporosis status. Those with osteoporosis showed no relationship between cartilage and knee symptoms, but demonstrated bone-related associations with symptoms. Osteoporosis affects the pattern of subchondral bone and cartilage properties in individuals with knee osteoarthritis. Knee symptoms in this subgroup likely originates in bone instead of cartilage. Osteoporosis screening may help identify knee osteoarthritis patients at further risk of subchondral bone damage leading to pain.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"5"},"PeriodicalIF":3.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone Microstructure and Bone Strength Among Patients with Pseudohypoparathyroidism. 假性甲状旁腺功能减退症患者的骨显微结构和骨强度
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-14 DOI: 10.1007/s00223-024-01313-1
Jiajia Wang, Yi Yang, An Song, Yingying Chen, Yan Jiang, Mei Li, Xiaoping Xing, Weibo Xia, Ou Wang
{"title":"Bone Microstructure and Bone Strength Among Patients with Pseudohypoparathyroidism.","authors":"Jiajia Wang, Yi Yang, An Song, Yingying Chen, Yan Jiang, Mei Li, Xiaoping Xing, Weibo Xia, Ou Wang","doi":"10.1007/s00223-024-01313-1","DOIUrl":"https://doi.org/10.1007/s00223-024-01313-1","url":null,"abstract":"<p><p>The present study aimed to assess bone strength and microstructure in patients with pseudohypoparathyroidism (PHP), nonsurgical HP (NS-HP), and healthy controls. A total of 54 PHP1 patients (14 PHP1a, 40 PHP1b), 54 age-/sex- matched NS-HP patients and 27 age-/sex-matched controls were enrolled. Clinical characteristics, biochemical indices and HR-pQCT indices were respectively collected. PHP1 patients had higher serum Ca and PTH level than NS-HP patients at the time of both diagnosis and HR-pQCT measurement. A higher BMI and lower serum P level were observed in PHP1 patients than NS-HP patients at the time of HR-pQCT measurement. Bone microstructure analysis showed PHP1 patients had decreased Tb.N, increased Tb.Sp, and increased Tb.1/N.SD at tibia compared to NS-HP patients. Subgroup analysis showed no significant difference in Tb.N and Tb.Sp in PHP1b patients compared to NS-HP patients. Multiple linear regression analysis showed increased Tb.N and decreased Tb.Sp at tibia were associated with longer treatment duration in PHP1b patients. The microarchitecture evaluated by HR-pQCT in this study further supported that bone tissue had a preserved sensitivity to PTH in PHP1 patients and trabecular bone was more susceptible. Moreover, at least, bone status in PHP1b patients might benefit from regular treatment.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"4"},"PeriodicalIF":3.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association Between Dietary Tryptophan Intake and Bone Health: A Cross-Sectional Study. 膳食色氨酸摄入量与骨骼健康之间的关系:一项横断面研究
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-14 DOI: 10.1007/s00223-024-01329-7
Shan Su, Limin Tian
{"title":"Association Between Dietary Tryptophan Intake and Bone Health: A Cross-Sectional Study.","authors":"Shan Su, Limin Tian","doi":"10.1007/s00223-024-01329-7","DOIUrl":"10.1007/s00223-024-01329-7","url":null,"abstract":"<p><p>The relationship between dietary tryptophan intake and the risk of low bone mineral density (LBMD) has not been thoroughly evaluated. This study aimed to examine the relationship between dietary tryptophan intake and LBMD. A total of 12,003 participants aged 50 years and older with complete data on bone mineral density (BMD) and tryptophan intake from the National Health and Nutrition Examination Survey (NHANES) 2005 to 2020 were included in this cross-sectional study. The median dietary tryptophan intake among the 12,003 participants was 1822.14 mg/day, with significantly lower levels observed in individuals with LBMD compared to those with normal bone mass (1740.45 mg/day vs. 2041.39 mg/day, p < 0.001). For every 2.7-fold increase in dietary tryptophan intake, the risk of low BMD decreases by 22%. When dietary tryptophan intake was categorized into quartiles, significantly lower risks of LBMD were observed in the third [Odds Ratio (OR) = 0.68, 95% confidence interval (CI): 0.51-0.91] and fourth (OR = 0.65, 95% CI: 0.49-0.87) quartiles compared to the reference group after multivariable adjustment. Moreover, the restricted cubic spline (RCS) results revealed a negative nonlinear relationship between dietary tryptophan intake and LBMD (p for overall < 0.001, p for nonlinear < 0.05), with this correlation remaining consistent across various population subgroups and exhibiting no significant interaction according to stratification variables. Sensitivity analyses further substantiated these findings. Overall, we found that increased dietary tryptophan intake may be associated with a lower risk of LBMD among individuals aged ≥ 50 years, highlighting the importance of optimizing tryptophan nutrition for reducing osteoporosis risk.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"6"},"PeriodicalIF":3.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association Between Sleep Duration and Low Bone Mineral Density and Osteoporosis: A Systematic Review and Meta-analysis. 睡眠时间与低骨矿密度和骨质疏松症之间的关系:系统回顾与元分析》。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-14 DOI: 10.1007/s00223-024-01319-9
Junwei Tian, Jianzeng Zhang, Lu Ding, Xin Qi
{"title":"Association Between Sleep Duration and Low Bone Mineral Density and Osteoporosis: A Systematic Review and Meta-analysis.","authors":"Junwei Tian, Jianzeng Zhang, Lu Ding, Xin Qi","doi":"10.1007/s00223-024-01319-9","DOIUrl":"https://doi.org/10.1007/s00223-024-01319-9","url":null,"abstract":"<p><p>Short and long sleep duration have been linked with adverse health outcomes. However, it is unclear if sleep duration affects the risk of low bone mineral density (BMD) or osteoporosis. We systematically reviewed evidence examining the association between short and long sleep with BMD/osteoporosis. PUBMED, Embase, CENTRAL, Web of Science, and Scopus were examined for studies up to July 15, 2024. We pooled adjusted odds ratio (OR) for the association between sleep and osteoporosis and adjusted linear regression coefficients (β) for BMD. A separate analysis was conducted for males, females, postmenopausal females, and the elderly. 14 studies were included. Three were cohort, while the rest were cross-sectional. The definition of short and long sleep varied among studies. Meta-analysis showed that long (OR 1.19 95% CI 1.05, 1.35 I<sup>2</sup> = 72%) but not short (OR 1.11 95% CI 0.95, 1.29 I<sup>2</sup> = 80%) sleep duration was associated with osteoporosis. Similar results were obtained for females and postmenopausal females. In males, both short and long sleep was associated osteoporosis while no such association was noted in the elderly. Meta-analysis showed that short sleep did not have any significant association with BMD (β - 0.002 95% CI - 0.007, 0.004 I<sup>2</sup> = 0), while long sleep duration was associated with a reduction in BMD (β - 0.017 95% CI - 0.031, - 0.004 I<sup>2</sup> = 0). Separate analyses for males and females revealed non-significant results. Evidence from mostly cross-sectional data suggests that long sleep duration may be a related to BMD and osteoporosis. Short sleep was not found to be related to BMD and osteoporosis, except for males where a significant effect was noted. Given the low-quality evidence, results must be interpreted with caution.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"3"},"PeriodicalIF":3.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Osteomalacia: A Challenging Diagnosis Adverse Event Associated with Intravenous Ferric Carboxymaltose-A Case Report. 骨软化症:静脉注射羧甲基铁引起的不良事件--病例报告。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-14 DOI: 10.1007/s00223-024-01328-8
Mauro Ferre-Sanfrancisco, Iván Del Bosque Granero, Marta Valero Expósito, Mónica Vázquez Díaz
{"title":"Osteomalacia: A Challenging Diagnosis Adverse Event Associated with Intravenous Ferric Carboxymaltose-A Case Report.","authors":"Mauro Ferre-Sanfrancisco, Iván Del Bosque Granero, Marta Valero Expósito, Mónica Vázquez Díaz","doi":"10.1007/s00223-024-01328-8","DOIUrl":"https://doi.org/10.1007/s00223-024-01328-8","url":null,"abstract":"<p><p>Hypophosphatemia resulting from intravenous iron treatment has become an increasingly concerning syndrome in recent years. We report the case of a 66-year-old male patient with a medical history of ankylosing spondylitis (AS), Crohn's disease, and chronic iron deficiency. Following intravenous iron infusions of ferric carboxymaltose, the patient developed diffuse bone pain and multiple bone fractures. After ruling out that the pain was in the context of spondyloarthritis (SpA), the diagnosis of osteomalacia associated with hypophosphatemia was established based on his clinical history, complementary analytical, and imaging tests. Once the diagnosis was made, intravenous ferric carboxymaltose infusions were discontinued, and oral calcium and vitamin D supplementation were initiated, resulting in clinical improvement with serum phosphate levels' normalization. This case shows the importance of recognizing the risk factors and clinical findings in selected patients, monitoring phosphate levels in those with high risk factors and considering stopping or switching to another intravenous iron formulation. Furthermore, this case highlights the importance of maintaining clinical suspicion of other possible etiologies of pain in patients with SpA.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"1"},"PeriodicalIF":3.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone Density of Vertebral Bodies and Ossified Masses in Cervical Ossification of the Posterior Longitudinal Ligament: An Imaging Study Based on MRI, CT, and DEXA. 颈椎后纵韧带骨化中椎体和骨化块的骨密度:基于 MRI、CT 和 DEXA 的成像研究。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-14 DOI: 10.1007/s00223-024-01316-y
Mingliang Shi, Baocheng Niu, Cheng Ye, Dong Xie, Qing Chen, Qi Zhao, Hao Wu, Lili Yang
{"title":"Bone Density of Vertebral Bodies and Ossified Masses in Cervical Ossification of the Posterior Longitudinal Ligament: An Imaging Study Based on MRI, CT, and DEXA.","authors":"Mingliang Shi, Baocheng Niu, Cheng Ye, Dong Xie, Qing Chen, Qi Zhao, Hao Wu, Lili Yang","doi":"10.1007/s00223-024-01316-y","DOIUrl":"https://doi.org/10.1007/s00223-024-01316-y","url":null,"abstract":"<p><p>Complications from anterior decompression fusion for cervical ossification of the posterior longitudinal ligament (OPLL) are often related to the bone mineral density (BMD) of vertebral bodies and ossified masses. The aim of this study was to clarify whether dual-energy X-ray absorptiometry (DEXA) T-scores reliably predict BMD in these structures, and whether vertebral bone quality (VBQ) and Hounsfield units (HU) can be effectively used to screen for osteopenia and osteoporosis. A total of 122 patients with cervical OPLL and 105 non-OPLL patients were included. Vertebral BMD was assessed by VBQ and HU, and ossified mass BMD was assessed by ossified mass bone quality (OMBQ) and ossification mass HU (OMHU). Overall, VBQ scores and HU values demonstrated weaker correlations with T-scores in the OPLL group compared with the non-OPLL group. Receiver operating characteristic curve analyses showed that VBQ and HU effectively discriminated osteopenia/osteoporosis in the OPLL cohort, with area under the curve values ranging from 0.763 to 0.827, similar to the non-OPLL. No significant differences in BMD were observed between the OPLL and non-OPLL groups based on the common assessment of VBQ, HU and DEXA-derived BMD (p > 0.05). Both OMBQ and OMHU showed good reliability and were significantly correlated with T-scores (p < 0.05). In patients with cervical OPLL, VBQ and HU remain effective screening tools for osteopenia/osteoporosis, potentially guiding or obviating the need for further DEXA scans. Additionally, our findings suggest that patients with lower T-scores may exhibit reduced BMD in both vertebral bodies and ossified masses.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"2"},"PeriodicalIF":3.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Update on the Genetics of Osteogenesis Imperfecta. 成骨不全症遗传学的最新进展。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2024-12-01 Epub Date: 2024-08-11 DOI: 10.1007/s00223-024-01266-5
Milena Jovanovic, Joan C Marini
{"title":"Update on the Genetics of Osteogenesis Imperfecta.","authors":"Milena Jovanovic, Joan C Marini","doi":"10.1007/s00223-024-01266-5","DOIUrl":"10.1007/s00223-024-01266-5","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized by bone fragility and deformity, growth deficiency, and other secondary connective tissue defects. OI is now understood as a collagen-related disorder caused by defects of genes whose protein products interact with collagen for folding, post-translational modification, processing and trafficking, affecting bone mineralization and osteoblast differentiation. This review provides the latest updates on genetics of OI, including new developments in both dominant and rare OI forms, as well as the signaling pathways involved in OI pathophysiology. There is a special emphasis on discoveries of recessive mutations in TENT5A, MESD, KDELR2 and CCDC134 whose causality of OI types XIX, XX, XXI and XXI, respectively, is now established and expends the complexity of mechanisms underlying OI to overlap LRP5/6 and MAPK/ERK pathways. We also review in detail new discoveries connecting the known OI types to each other, which may underlie an eventual understanding of a final common pathway in OI cellular and bone biology.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"891-914"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141911870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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