Bone最新文献

{"title":"Swim training induces distinct osseous gene expression pattern in anosteocytic and osteocytic teleost fish.","authors":"Josephine T Tauer, Tobias Thiele, Catherine Julien, Lior Ofer, P. Zaslansky, Ron Shahar, Bettina M. Willie","doi":"10.1016/j.bone.2024.117125","DOIUrl":"https://doi.org/10.1016/j.bone.2024.117125","url":null,"abstract":"","PeriodicalId":93913,"journal":{"name":"Bone","volume":"210 S650","pages":"117125"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141040215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effects of synbiotics-glyconutrients on growth performance, nutrient digestibility, gas emission, meat quality, and fatty acid profile of finishing pigs.","authors":"Olivier Munezero, Sungbo Cho, In Ho Kim","doi":"10.5187/jast.2023.e52","DOIUrl":"10.5187/jast.2023.e52","url":null,"abstract":"<p><p>Glyconutrients help in the body's cell communication. Glyconutrients and synbiotics are promising options for improving immune function. Therefore, we hypothesized that combining synbiotics and glyconutrients will enhance pig nutrient utilization. 150 pigs (Landrace × Yorkshire × Duroc), initially weighing 58.85 ± 3.30 kg of live body weight (BW) were utilized to determine the effects of synbiotics-glyconutrients (SGN) on the pigs' performance, feed efficiency, gas emission, pork traits, and composition of fatty acids. The pigs were matched by BW and sex and chosen at random to 1 of 3 diet treatments: control = Basal diet; TRT1 = Basal diet + SGN 0.15%; TRT2 = Basal diet + SGN 0.30%%. The trials were conducted in two phases (weeks 1-5 and weeks 5-10). The average daily gain was increased in pigs fed a basal diet with SGN (<i>p</i> = 0.036) in weeks 5-10. However, the apparent total tract digestibility of dry matter, nitrogen, and gross energy did not differ among the treatments (<i>p</i> > 0.05). Dietary treatments had no effect on NH₃, H₂S, methyl mercaptans, acetic acids, and CO₂ emissions (<i>p</i> > 0.05). Improvement in drip loss on day 7 (<i>p</i> = 0.053) and tendency in the cooking loss were observed (<i>p</i> = 0.070) in a group fed basal diets and SGN at 0.30% inclusion level. The group supplemented with 0.30% of SGN had higher levels of palmitoleic acid (C16:1), margaric acid (C17:0), omega-3 fatty acid, omega-6 fatty acid, and ω-6: ω-3 ratio (<i>p</i> = 0.034, 0.020, 0.025, 0.007, and 0.003, respectively) in the fat of finishing pigs. Furthermore, group supplemented with 0.30% of SGN improved margaric acid (C17:0), linoleic acid (C18:2n6c), arachidic acid (C20:0), omega 6 fatty acid, omega-6 to omega-3 ratio, unsaturated fatty acid, and monounsaturated fatty acid (p = 0.037, 0.05, 0.0142, 0.036, 0.033, 0.020, and 0.045, respectively) in the lean tissues of finishing pigs compared to pigs fed with the control diets. In conclusion, the combination of probiotics, prebiotics, and glyconutrients led to higher average daily gain, improved the quality of pork, and more favorable fatty acid composition. Therefore, these results contributed to a better understanding of the potential of SGN combinations as a feed additive for pigs.</p>","PeriodicalId":93913,"journal":{"name":"Bone","volume":"29 1","pages":"310-325"},"PeriodicalIF":2.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11016742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78886618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TNF-α promotes osteocyte necroptosis by upregulating TLR4 in postmenopausal osteoporosis","authors":"Hongwang Cui, Ji Li, Xiangtao Li, Tian Su, Peng Wen, Chuanling Wang, Xiaozhong Deng, Yonghua Fu, Weijie Zhao, Changjia Li, Pengbing Hua, Yongjun Zhu, Wei Wan","doi":"10.1016/j.bone.2024.117050","DOIUrl":"https://doi.org/10.1016/j.bone.2024.117050","url":null,"abstract":"","PeriodicalId":93913,"journal":{"name":"Bone","volume":"878 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139831347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bone intrinsic material and compositional properties in postmenopausal women diagnosed with long-term Type-1 diabetes.","authors":"W. Qian, S. Gamsjaeger, E. Paschalis, Laura A Graeff-Armas, S. Bare, J. Turner, J. Lappe, R. Recker, M. Akhter","doi":"10.2139/ssrn.4328036","DOIUrl":"https://doi.org/10.2139/ssrn.4328036","url":null,"abstract":"The incidence of diabetes mellitus and the associated complications are growing worldwide, affecting the patients' quality of life and exerting a considerable burden on health systems. Yet, the increase in fracture risk in type 1 diabetes (T1D) patients is not fully captured by bone mineral density (BMD), leading to the hypothesis that alterations in bone quality are responsible for the increased risk. Material/compositional properties are important aspects of bone quality, yet information on human bone material/compositional properties in T1D is rather sparse. The purpose of the present study is to measure both the intrinsic material behaviour by nanoindentation, and material compositional properties by Raman spectroscopy as a function of tissue age and microanatomical location (cement lines) in bone tissue from iliac crest biopsies from postmenopausal women diagnosed with long-term T1D (N = 8), and appropriate sex-, age-, BMD- and clinically-matched controls (postmenopausal women; N = 5). The results suggest elevation of advanced glycation endproducts (AGE) content in the T1D and show significant differences in mineral maturity / crystallinity (MMC) and glycosaminoglycan (GAG) content between the T1D and control groups. Furthermore, both hardness and modulus by nanoindentation are greater in T1D. These data suggest a significant deterioration of material strength properties (toughness) and compositional properties in T1D compared with controls.","PeriodicalId":93913,"journal":{"name":"Bone","volume":"1 1","pages":"116832"},"PeriodicalIF":0.0,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45367411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric reference values of alkaline phosphatase: Analysis from a German population-based cohort and influence of anthropometric and blood parameters.","authors":"Jacqueline-Michéle Strauch, M. Vogel, C. Meigen, U. Ceglarek, J. Kratzsch, A. Willenberg, W. Kiess","doi":"10.2139/ssrn.4358797","DOIUrl":"https://doi.org/10.2139/ssrn.4358797","url":null,"abstract":"BACKGROUND\u0000Due to different growth and metabolic processes, reference values of alkaline phosphatase (AP) for children aged 3 month to 18 years are dependent on age and sex. They are not constant and differ from those of adults due to the growth processes taking place. Accordingly, reference levels of AP continuous across these ages were generated for boys and girls based on of a large German health- and population-based study, LIFE Child. We considered AP at different growth and Tanner stages and additionally its association with other anthropometric parameters. The association between AP and BMI was of particulary great interest due to controversial literature on this topic. The role of AP in liver metabolism was investigated by examining ALAT, ASAT, and GGT.\u0000\u0000\u0000METHODS\u00003976 healthy children (12,093 visits) were included from the LIFE Child study from 2011 to 2020. The subjects´ age ranged from 3 months to 18 years. Serum samples from 3704 subjects (10,272 cases, 1952 boys and 1753 girls) were analysed for AP after applying specific exclusion criteria. After calculating of reference percentiles, associations between AP and height-SDS, growth velocity, BMI-SDS, Tanner stage and the liver enzymes ALAT, ASAT and GGT were examined via linear regression models.\u0000\u0000\u0000RESULTS\u0000In the continuous reference levels, AP showed a first peak during the first year of life, followed by a plateau at a lower level until the start of puberty. In girls, AP increased beginning at the age 8, with a peak around 11 years, in boys beginning at the age 9, with a peak around age 13. Afterwards, AP values decreased continuously until age 18. In Tanner stages 1 and 2, AP levels did not differ between the two sexes. We found a strong positive association between AP-SDS and BMI-SDS. We also observed a significantly positive association between AP-SDS and height-SDS, which was stronger in boys than in girls. We found different intensities in the associations of AP with growth velocity depending on age group and sex. Furthermore, we found a significantly positive association between ALAT and AP in girls but not in boys, whereas ASAT-SDS and GGT-SDS were significantly positively associated with AP-SDS in both sexes.\u0000\u0000\u0000CONCLUSION\u0000Sex and age, but also BMI may act as confounding factors for AP reference ranges. Our data confirm the remarkable association between AP and growth velocity (or height-SDS, respectively) during infancy and puberty. In addition, we were able to specify the associations between AP and ALAT, ASAT, and GGT and their differences in both sexes. These relations should be considered when evaluating liver and bone metabolism markers, especially in infancy.","PeriodicalId":93913,"journal":{"name":"Bone","volume":"1 1","pages":"116809"},"PeriodicalIF":0.0,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41642183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Muscle strength and physical performance contribute to and improve fracture risk prediction in older people: A narrative review.","authors":"Dima A Alajlouni, D. Bliuc, Thach Tran, R. Blank, J. Center","doi":"10.2139/ssrn.4281657","DOIUrl":"https://doi.org/10.2139/ssrn.4281657","url":null,"abstract":"Osteoporotic fractures present a major health problem with an increasing prevalence in older people. Fractures are associated with premature mortality, reduced quality of life, subsequent fracture, and increased costs. Hence, it is crucial to identify those at higher risk of fracture. Fracture risk assessment tools incorporated clinical risk factors to improve fracture predictive power over BMD alone. However, fracture risk prediction using these algorithms remains suboptimal, warranting further improvement. Muscle strength and physical performance measurements have been associated with fracture risk. In contrast, the contribution of sarcopenia, the composite condition of low muscle mass, muscle strength and/or physical performance, to fracture risk is unclear. It is uncertain whether this is due to the problematic definition of sarcopenia per se or limitations of the diagnostic tools and cut-off points of the muscle mass component. The recent position statement from the Sarcopenia Definition and Outcomes Consortium confirmed the inclusion of muscle strength and performance in the definition of sarcopenia but not DXA-assessed lean mass. Therefore, clinicians should focus on functional assessment (muscle strength and performance) rather than muscle mass, at least as assessed by DXA, as predictors of fractures. Muscle strength and performance are modifiable risk factors. Resistance exercise improves muscle parameters in the elderly, potentially leading to reduced risk of falls and fractures in the general population and in those who sustained a fracture. Therapists may consider exercise intervention to improve muscle parameters and potentially reduce the risk of fractures. The aim of this review was to explore 1) the contribution of muscle parameters (i.e., muscle mass, strength, and physical performance) to fracture risk in older adults, and 2) the added predictive accuracy of these parameters beyond the existing fracture assessment tools. These topics provide the rationale for investigating strength and physical performance interventions to reduce fracture risk. Most of the included publications showed that muscle mass is not a good predictor of fracture risk, while poor muscle strength and performance are associated with an increased risk of fracture, particularly in men, independent of age, BMD, and other risk factors for fractures. Muscle strength and performance can potentially improve the predictive accuracy in men beyond that obtained by the fracture risk assessment tools, Garvan FRC and FRAX.","PeriodicalId":93913,"journal":{"name":"Bone","volume":"1 1","pages":"116755"},"PeriodicalIF":0.0,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49058704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The influence of diet and physical activity on bone density of children aged 5-7 years: The Belfast HAPO family study.","authors":"C. Casey, B. Kemp, L. Cassidy, Chris Patterson, M. Tully, A. Hill, D. McCance","doi":"10.2139/ssrn.4328034","DOIUrl":"https://doi.org/10.2139/ssrn.4328034","url":null,"abstract":"OBJECTIVE\u0000Osteoporosis is a global health issue, and modifiable behavioural factors need to be identified in childhood to reduce the risk of osteoporosis in later life. The aim of this study was to investigate the influence of diet and physical activity on bone density of children aged 5-7 years participating in the Belfast Hyperglycaemia and Adverse Pregnancy Outcome (HAPO) Family study.\u0000\u0000\u0000DESIGN AND METHODS\u0000Pregnant women were recruited to the Belfast centre of the HAPO study at 24-32 weeks gestation. Offspring were followed up at 5-7 years as part of the Belfast HAPO Family Study. Heel bone mineral density (BMD) and bone mineral apparent density (BMAD) were measured and calculated, respectively. Physical activity in the offspring was measured by accelerometery and dietary intakes were measured using a 4-day food diary.\u0000\u0000\u0000RESULTS\u0000Results from 793 offspring were analysed. Mean age of the offspring ± standard deviation was 6.4 ± 0.5 years. A mean of 48.3 ± 22.4 min each day was spent in moderate to vigorous physical activity (MVPA). Median (interquartile range) dietary calcium and vitamin D intakes were 844 (662-1073) mg/day and 1.7 (1.1-2.5) μg/day, respectively. Neither dietary vitamin D nor calcium intakes were significantly associated with offspring heel BMD or BMAD in multiple regression. However, controlling for confounders, a 30-min greater MVPA was associated with significantly larger heel BMD (0.018 g/cm2 in boys and 0.010 g/cm2 in girls) and BMAD (0.005 g/cm3 in boys and 0.003 g/cm3 in girls).\u0000\u0000\u0000CONCLUSION\u0000Physical activity was associated with better BMD and BMAD in 5-7-year-old children. Dietary calcium and vitamin D were not predictive of BMD and BMAD.","PeriodicalId":93913,"journal":{"name":"Bone","volume":"1 1","pages":"116783"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45127271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychosocial and behavioral correlates of self-efficacy in treatment adherence in older patients with comorbid hypertension and type 2 diabetes.","authors":"Antonia Pierobon, Francesco Zanatta, Nicolò Granata, Ekaterina Nissanova, Jacek Polański, Wojciech Tański, Giovanna Callegari, Angelo Caporotondi, Chiara Ferretti, Polańska Beata Jankowska-","doi":"10.5114/hpr/159284","DOIUrl":"10.5114/hpr/159284","url":null,"abstract":"<p><strong>Background: </strong>Adhering to clinical prescriptions is known to protect against the effects of uncontrolled hypertension and of acute and chronic cardiovascular diseases, including diabetes. Contextually, positive associations between self-care behaviors and psychological constructs, such as self-efficacy, are widely acknowledged in the literature. However, still little is known about the psychological factors underlying the patient's self-efficacy. This study aimed to investigate the psychosocial and behavioral correlates of self-efficacy related to treatment adherence in older patients with comorbid hypertension and type 2 diabetes mellitus.</p><p><strong>Participants and procedure: </strong>Italian and Polish patients (≥ 65 years; <i>N</i> = 180) consecutively responded to self-report questionnaires measuring psychosocial (i.e., beliefs about medicines, perceived physician's communication effectiveness, medication-specific social support, self-efficacy) and behavioral factors (i.e., pharmacological adherence, medications refill adherence, intentional non-adherence) related to treatment adherence. Between-group comparisons and regression analyses were performed.</p><p><strong>Results: </strong>Fisher's least significant difference (LSD) test showed significant differences between the Italian and Polish groups in all questionnaires (<i>p</i> < .01) with the Italian patients reporting more satisfactory scores. Younger age (β = .08, <i>p</i> = .045), female gender (β = 1.03, <i>p</i> = .042), higher medication refills adherence (β = -.07, <i>p</i> = .024), lower intentional non-adherence (β = -.03, <i>p</i> = .009), positive beliefs about medications (β = .13, <i>p</i> < .001), better quality of communication with the physician (β = .09, <i>p</i> < .001), and stronger perceived medication-specific social support (β = .06, <i>p</i> = .001) were significantly associated with self-efficacy related to treatment adherence.</p><p><strong>Conclusions: </strong>Future research and interventions should leverage psychosocial and behavioral factors to address self-efficacy contributing to enhancing adherence to clinical prescriptions.</p>","PeriodicalId":93913,"journal":{"name":"Bone","volume":"24 1","pages":"188-199"},"PeriodicalIF":2.0,"publicationDate":"2023-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10670798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78912999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical value of RANKL, OPG, IL-6 and sclerostin as biomarkers for fibrous dysplasia/McCune-Albright syndrome.","authors":"M. E. Meier, M. Hagelstein-Rotman, T. Streefland, E. Winter, N. Bravenboer, N. Appelman‐Dijkstra","doi":"10.2139/ssrn.4328033","DOIUrl":"https://doi.org/10.2139/ssrn.4328033","url":null,"abstract":"BACKGROUND\u0000Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic bone disease caused by a somatic mutation in the GNAS gene. Currently used bone turnover markers (BTMs) do not correlate with the clinical picture and are not useful to predict or monitor therapy success. This study assessed the correlation of RANKL, OPG, RANKL/OPG ratio, IL-6 and sclerostin with the classic BTMs alkaline phosphatase (ALP), procollagen type 1 propeptide (P1NP) and beta crosslaps (CTX), with pain, skeletal burden score (SBS) and response to bisphosphonate or denosumab treatment.\u0000\u0000\u0000METHODS\u0000Ninety-six serum samples of adult patients >18 years of age with any subtype of FD/MAS were included from the biobank facility of the Leiden University Medical Center, Center for Bone Quality between 2015 and 2021. Standard laboratory assessments were assessed as part of usual care. The concentrations of potential biomarkers RANKL, OPG, sclerostin, IL-6 were analyzed. Data on FD/MAS subtype, age, pain, treatment history and treatment response were retrieved from the electronic patient files. Baseline characteristics were summarized by descriptive statistics. Correlations of the concentrations of the potential biomarkers with classic bone turnover markers, SBS and pain scores were cross-sectionally assessed by Spearman rank order correlation. Correction for multiple testing was performed by Benjamini and Hochberg False Discovery Rate. A sensitivity analyses was performed by excluding patients with SBS below 15 and patients using antiresorptive medication at the time of blood withdrawal or within the wash-out period. In patients treated with bisphosphonates or denosumab after blood withdrawal, pre-treatment concentrations were compared in patients with and without therapy response by Mann Whitney U test.\u0000\u0000\u0000RESULTS\u0000The median age of the patients was 41.2 (Q1-Q3 25.9-52.2) years, 62.5 % was female. Median SBS was 2.5 (Q1-Q3 0.5-7.8). RANKL level correlated weakly with ALP (Spearman rho 0.309, p = 0.004, n = 84), but not with P1NP or CTX. The RANKL/OPG ratio, OPG, IL-6 and sclerostin did not correlate with ALP, P1NP or CTX. None of the potential biomarkers correlated with SBS or pain. Results of the sensitivity analyses were comparable. Pre-treatment biomarker levels were similar in patients with and without improvement in pain scores following bisphosphonate therapy. Pre-treatment RANKL and sclerostin were comparable between patients with and without improvement in pain scores after denosumab therapy. Pre-treatment IL-6 level and the RANKL/OPG ratio seemed to be higher in patients with response to denosumab (IL-6: median 0.64 (Q1-Q3 0.53-0.74) pg/mL, n = 6, RANKL/OPG: median 0.062 (Q1-Q3 0.016-0.331), n = 5) compared to patients without response (IL-6: median 0.35 (0.20-0.54) pg/mL, n = 5, RANKL/OPG: 0.027 (0.024-0.046), n = 4). Pre-treatment IL-6 correlated with the improvement in maximum pain scores (rho 0.962, p < 0.001, n = 9) and average pain scores (rho 0.895, p = ","PeriodicalId":93913,"journal":{"name":"Bone","volume":"1 1","pages":"116744"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44349590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autosomal dominant osteopetrosis.","authors":"L. Polgreen, E. Imel, M. Econs","doi":"10.2139/ssrn.4290887","DOIUrl":"https://doi.org/10.2139/ssrn.4290887","url":null,"abstract":"Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a \"bone-in-bone\" appearance of long bones and sclerosis of the superior and inferior vertebral body endplates. Generalized osteosclerosis in ADO typically results from abnormalities in osteoclast function, due most commonly to mutations in the chloride channel 7 (CLCN7) gene. A variety of debilitating complications can occur over time due to bone fragility, impingement of cranial nerves, encroachment of osteopetrotic bone in the marrow space, and poor bone vascularity. There is a wide spectrum of disease phenotype, even within the same family. Currently, there is no disease specific treatment for ADO, so clinical care focuses on monitoring for disease complications and symptomatic treatment. This review describes the history of ADO, the wide disease phenotype, and potential new therapies.","PeriodicalId":93913,"journal":{"name":"Bone","volume":"1 1","pages":"116723"},"PeriodicalIF":0.0,"publicationDate":"2023-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48510041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}