Calcified Tissue International最新文献

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Accuracy of Low-Dose Chest CT-Based Artificial Intelligence Models in Osteoporosis Detection: A Systematic Review and Meta-analysis. 基于低剂量胸部ct的人工智能模型在骨质疏松症检测中的准确性:系统综述和荟萃分析。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-05-02 DOI: 10.1007/s00223-025-01377-7
Huang Ya'nan, Zhou Jianfeng, Tang Wei, Yang Jianfeng, Zhao Zhenhua
{"title":"Accuracy of Low-Dose Chest CT-Based Artificial Intelligence Models in Osteoporosis Detection: A Systematic Review and Meta-analysis.","authors":"Huang Ya'nan, Zhou Jianfeng, Tang Wei, Yang Jianfeng, Zhao Zhenhua","doi":"10.1007/s00223-025-01377-7","DOIUrl":"10.1007/s00223-025-01377-7","url":null,"abstract":"<p><p>The purpose of this study is to systematically review and evaluate the accuracy of low-dose chest CT-based artificial intelligence in osteoporosis screening. A systematic literature search for relevant studies up to 13th December 2024 was performed in the PubMed, Scopus, Web of Science, and Cochrane Library databases. This meta-analysis was conducted in accordance with the PRISMA-DTA statement. Modified QUADAS-2 was used to assess the methodological quality of the studies. Quantification bias metrics were extracted to evaluate the performance of the AI models for vertebrae segmentation and labeling based on low-dose chest CT images. Pooled sensitivity, specificity, and area under the curve (AUC) were calculated. To assess publication bias, Egger test and funnel plot were conducted. Meta-regression and subgroup analysis were performed to explore potential heterogeneity. Eight studies suitable for the analysis were included. The pooled Dice similarity coefficient (DSC) for automatic vertebrae segmentation was 0.92 (95% CI 0.88-0.97). For the diagnosis of abnormal (osteoporosis + osteopenia) or osteoporosis participants, respectively, pooled sensitivities were 0.90 (95% CI 0.88-0.91) and 0.86(95% CI 0.82-0.89); pooled specificities were 0.90 (95% CI 0.88-0.91) and 0.93 (95% CI 0.92-0.94); and summary receiver operating characteristic (SROC) curves were 0.9653 and 0.9676. Meta-regression and subgroup analyses identified potential sources of heterogeneity, including result source (external dataset vs. internal dataset), ROI annotations (one radiologist vs. two radiologists), model developed with or without radiomics, and VBs segmentation output (included lumbar spine vs. only thoracic spine) (P < 0.05). The low-dose chest CT-based AI model shown promise information for identifying patients with osteoporosis or osteopenia who need further evaluation. Further prospective multi-center, multi-dataset studies are still required to assess the complementary role of the AI model in osteoporosis and osteopenia diagnosis through low-dose chest CT images.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"67"},"PeriodicalIF":3.3,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960160","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
A Child with Cutaneous-Skeletal Hypophosphatemia Syndrome Caused by a Mosaic HRAS Mutation: Outcome of Treatment with Anti-FGF23 Antibody. 马赛克HRAS突变引起的皮肤-骨骼低磷血症综合征儿童:抗fgf23抗体治疗的结果
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-28 DOI: 10.1007/s00223-025-01373-x
Jing Wu, Qiaoyu Cao, Wei Lu, Chengjun Sun, Qiuyue Li, Rong Ye, Ruoqian Cheng, Feihong Luo, Ming Li
{"title":"A Child with Cutaneous-Skeletal Hypophosphatemia Syndrome Caused by a Mosaic HRAS Mutation: Outcome of Treatment with Anti-FGF23 Antibody.","authors":"Jing Wu, Qiaoyu Cao, Wei Lu, Chengjun Sun, Qiuyue Li, Rong Ye, Ruoqian Cheng, Feihong Luo, Ming Li","doi":"10.1007/s00223-025-01373-x","DOIUrl":"https://doi.org/10.1007/s00223-025-01373-x","url":null,"abstract":"<p><p>Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare mosaic disorder that causes bone abnormalities due to hypophosphatemic rickets and skeletal dysplasia and is a significant health comorbidity. Conventional therapy involving multiple daily oral doses of phosphate and calcitriol for CSHS patients has limited effectiveness. We report the clinical features and therapeutic outcomes of the first Chinese child diagnosed with CSHS, who presented with bone fractures, a history of seizures, and recurrent gastrointestinal manifestations, including diarrhoea and bowel obstruction. The effectiveness of conventional therapy and an anti-FGF23 antibody (burosumab) was evaluated. Ultra-deep sequencing was performed on the patient's blood DNA, skin tissue, oral mucosa, and hair follicles to identify causative mutations. The child had a somatic mutation in the HRAS (p.G13R) gene, which was identified at low variant allele frequencies. We analysed the sequencing results from reported cases and determined that the sequencing of lesional tissues, such as skin and bone, is preferable to that of oral mucosa or potentially affected hair follicles for establishing a definitive diagnosis of CSHS. Compared with conventional phosphate therapy, burosumab resulted in a steady increase in blood phosphorus levels and significant improvements in patient mobility, pain outcomes and skeletal radiography. It is suggested that younger children may receive a higher initial dosage of burosumab for better outcomes. However, long-term follow-up is still necessary to confirm its efficacy and safety.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"65"},"PeriodicalIF":3.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966439","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
The Diagnosis and Therapy of XLH. XLH的诊断与治疗。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-28 DOI: 10.1007/s00223-025-01374-w
Ineke Böckmann, Dieter Haffner
{"title":"The Diagnosis and Therapy of XLH.","authors":"Ineke Böckmann, Dieter Haffner","doi":"10.1007/s00223-025-01374-w","DOIUrl":"https://doi.org/10.1007/s00223-025-01374-w","url":null,"abstract":"<p><p>X-linked hypophosphatemia is a rare genetic disease caused by pathogenic variants in the PHEX (phosphate-regulating endopeptidase homolog X-linked) gene with X-linked dominant inheritance that causes metabolic bone disease and other severe complications. PHEX dysfunction results in increased production and secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23) from bone. The consequences of FGF23 excess are renal phosphate wasting and decreased calcitriol synthesis, leading to hypophosphatemia and subsequently rickets and osteomalacia. Children with XLH usually become symptomatic in the second year of life presenting with progressive disproportionate short stature, bone pain, frontal bossing, enlarged joints, bowed legs, and a waddling gait. Various other symptoms may develop later, including dental abscesses, peritonitis, hearing loss, pseudofractures, spinal stenosis, osteoarthritis, and enthesopathies, often leading to a diminished quality of life and ultimately disability. Here, we provide an overview of the current knowledge of the pathophysiology and treatment insights of this rare and challenging disease, including the targeting of FGF23 as a therapeutic approach that has significantly improved patient outcomes.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"66"},"PeriodicalIF":3.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12037658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954700","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
Investigation of Osteoporosis in Persons Living with Human Immunodeficiency Virus: The HOST Study. 人类免疫缺陷病毒感染者骨质疏松症的调查:宿主研究
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-25 DOI: 10.1007/s00223-025-01368-8
Simone Bruhn Rosendahl, Jakob Starup-Linde, Merete Storgaard, Bente Langdahl
{"title":"Investigation of Osteoporosis in Persons Living with Human Immunodeficiency Virus: The HOST Study.","authors":"Simone Bruhn Rosendahl, Jakob Starup-Linde, Merete Storgaard, Bente Langdahl","doi":"10.1007/s00223-025-01368-8","DOIUrl":"https://doi.org/10.1007/s00223-025-01368-8","url":null,"abstract":"<p><p>Bone health is an emerging concern in the aging human immunodeficiency virus (HIV)-infected population. We aimed to investigate bone mineral density (BMD) and bone microarchitecture in persons living with HIV (PLHIV). The study was a cross-sectional study. BMD and bone microarchitecture were investigated by Dual-Energy X-ray Absorptiometry (DXA) at the hip and lumbar spine and High-Resolution peripheral Quantitative Computed Tomography (HRpQCT) at the radius and tibia. Information about risk factors for fracture was obtained from a questionnaire. 183 PLHIV were included, 160 (131 males, 29 females) completed the visit. Age range was 30-78 years and the mean time since first HIV-positive serology was 16.5 years. 47% had low bone density and 6% had osteoporosis. The mean T-score by DXA was - 1.2 (standard deviation (SD) ± 1.0), - 0.7 (SD ± 0.9), and - 0.7 (SD ± 1.3) at the femoral neck, total hip and lumbar spine, respectively. We observed no significant difference in BMD by DXA between participants below or above age 50. BMI was significantly lower in PLHIV with lower BMD (p = 0.001, ANOVA). HRpQCT measurements showed significant differences in cortical area, volumetric BMD, and most microarchitecture parameters between PLHIV with BMD in the normal, low, and osteoporotic ranges measured at the tibia and radius. Our results indicate that bone microarchitecture and BMI vary considerably between PLHIV with normal, low, and osteoporotic BMD. These differences may partly explain the increased fracture risk seen in PLHIV.Trial numbers: Ethics Committee of the Central Denmark Region (case no. 1-10-72-238-17), Danish Data Protection Agency (case no. 1-16-02-708-17).</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"64"},"PeriodicalIF":3.3,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062452","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
Keto Acids Attenuate Skeletal Muscle Atrophy in Chronic Kidney Disease via Inhibiting Pyroptosis and Upregulating Irisin Precursor FNDC5 Expression. 酮酸通过抑制焦亡和上调鸢尾素前体FNDC5表达来减轻慢性肾病骨骼肌萎缩。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-24 DOI: 10.1007/s00223-025-01372-y
Peixin Wang, Qi Pang, Aihua Zhang
{"title":"Keto Acids Attenuate Skeletal Muscle Atrophy in Chronic Kidney Disease via Inhibiting Pyroptosis and Upregulating Irisin Precursor FNDC5 Expression.","authors":"Peixin Wang, Qi Pang, Aihua Zhang","doi":"10.1007/s00223-025-01372-y","DOIUrl":"https://doi.org/10.1007/s00223-025-01372-y","url":null,"abstract":"<p><p>It is widely accepted that keto acids supplementation can protect skeletal muscle from atrophy. Pyroptosis has been considered to be one of the new mechanisms of muscle atrophy. This study aimed to explore the effects and mechanisms of keto acids supplementation on chronic kidney disease (CKD)-induced skeletal muscle atrophy. In vitro, C2C12 myoblast cells were treated with indoxyl sulfate (IS, 1 mM) and leucine (Leu, 0 ng/mL, 50 ng/mL or 100 ng/mL). In animal experiment, animals were divided into four groups: normal control (NC) group (wildtype mice), CKD group (wildtype mice with CKD modeling), keto acids (KAs) group (CKD wildtype mice treated with KA), and FNDC5-/- group (Fndc5 (irisin precursor) gene knockout mice with CKD modeling and KA treatment). Results showed that leucine improved IS-induced myotube atrophy, decreased percentage of Propidium Iodide (PI)-positive cells, upregulated FNDC5 expression levels, and downregulated the pyroptosis-related protein levels, such as NLRP3, cleaved CASP1, and GSDMD-N. KA supplementation improved renal function and skeletal muscle atrophy. Furthermore, KA supplementation suppressed the expression of pyroptosis-related proteins and increased the expression of FNDC5. However, Fndc5 gene knockout partially reversed the protective effects of keto acids in CKD. In conclusion, our results showed for the first time that KA supplementation improves CKD-induced skeletal muscle atrophy by inhibiting pyroptosis and increasing expression of irisin/FNDC5. Our findings provide a novel insight into the treatment of the CKD-induced skeletal muscle atrophy.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"63"},"PeriodicalIF":3.3,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980383","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
Grading Pseudofractures-The "Breach-Beak-Bump-Bridge" Approach. 假性骨折分级-“破口-喙-磕碰-桥”方法。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-16 DOI: 10.1007/s00223-025-01371-z
Lothar Seefried, Dominik Rak, Franca Genest
{"title":"Grading Pseudofractures-The \"Breach-Beak-Bump-Bridge\" Approach.","authors":"Lothar Seefried, Dominik Rak, Franca Genest","doi":"10.1007/s00223-025-01371-z","DOIUrl":"https://doi.org/10.1007/s00223-025-01371-z","url":null,"abstract":"<p><p>Pseudofractures are atraumatic radiolucencies resulting from compromised bone mineralization and are often associated with poor clinical outcomes in patients with skeletal disorders. The incidence, clinical course of healing, and the risk of recurrence of pseudofractures are not well characterized, not least because pseudofractures and fractures are regularly reported under the general term \"fractures,\" despite underlying pathophysiological differences. Accordingly, this report is intended to conceptualize a grading scale for identifying and assessing pseudofractures. The scale was developed based on our clinical experience with. The proposed taxonomy includes 4 radiographically distinct stages, progressing from an unreactive initial Breach (Stage 1) to a stage with a visible Beak (Stage 2), appearance of a rounded Bump (Stage 3), and formation of a Bridge (Stage 4) across the interline. These scores correspond to radiographic transformations observed along the course of pseudofracture consolidation, although these stages of healing are reversible, and stagnation or relapse may occur at any stage. Dislocation should be indicated by adding a \"d\" to the score; adding an \"s\" indicates that the bone is clinically stable, meaning pain-free full weight-bearing is possible, because of surgical stabilization or sustainable cortical bridging (typically in Stage 4 or 0 [consolidation]). The scale may be used for any pseudofracture regardless of anatomical site or etiology. The proposed Breach-Beak-Bump-Bridge (4B) concept is a tool that can be used in clinical practice to assess pseudofractures over time and to improve specificity and clarity in communication of these findings.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"62"},"PeriodicalIF":3.3,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975110","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
Roles of Insulin-Like Growth Factor-1 in Muscle Wasting and Osteopenia in Mice with Hyponatremia. 胰岛素样生长因子-1在低钠血症小鼠肌肉萎缩和骨质减少中的作用。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-14 DOI: 10.1007/s00223-025-01369-7
Naoyuki Kawao, Akihito Nishikawa, Daichi Matsumura, Ayaka Yamada, Takashi Ohira, Yuya Mizukami, Hiroshi Kaji
{"title":"Roles of Insulin-Like Growth Factor-1 in Muscle Wasting and Osteopenia in Mice with Hyponatremia.","authors":"Naoyuki Kawao, Akihito Nishikawa, Daichi Matsumura, Ayaka Yamada, Takashi Ohira, Yuya Mizukami, Hiroshi Kaji","doi":"10.1007/s00223-025-01369-7","DOIUrl":"https://doi.org/10.1007/s00223-025-01369-7","url":null,"abstract":"<p><p>Hyponatremia is associated with sarcopenia and osteoporosis in elderly individuals. Skeletal muscle releases myokines, which affect distant organs, including bone. However, the detailed mechanisms by which hyponatremia influences muscle and bone remain unclear. We herein investigated the effects of hyponatremia on muscle, bone, and myokines linking muscle to bone in mice treated with 1-desamino-8-D-arginine vasopressin (dDAVP) or furosemide, which induce hyponatremia. Muscle mass and bone mineral density (BMD) were analyzed 8 weeks after the administration of dDAVP or furosemide. dDAVP significantly reduced grip strength, but did not affect tissue weights of gastrocnemius or soleus muscles of mice. Furosemide significantly decreased muscle mass, tissue weights of gastrocnemius and soleus muscles, and grip strength in mice. dDAVP and furosemide decreased trabecular BMD, trabecular bone volume, and cortical BMD at the femurs. Among myokines linking muscle to bone, hyponatremia reduced expression of insulin-like growth factor (IGF)-1 in gastrocnemius and soleus muscles and serum IGF-1 levels in mice. In simple regression analyses, serum IGF-1 levels were positively related to muscle IGF-1 expression, trabecular bone volume, and cortical BMD in mice. The administration of sodium chloride solution to mice ameliorated the decreases in grip strength, muscle mass, trabecular bone volume, cortical BMD, and the levels of muscle and circulating IGF-1 in furosemide-treated mice. The present study demonstrated that hyponatremia induces muscle and bone loss as well as a decrease in muscle IGF-1 expression in mice. The present findings suggest that IGF-1 might be related to muscle wasting and bone loss induced by hyponatremia in mice.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"61"},"PeriodicalIF":3.3,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985725","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
Long-Term Denosumab Treatment in Adults with Juvenile Paget Disease. 长期Denosumab治疗成人少年Paget病
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-13 DOI: 10.1007/s00223-025-01370-0
Stergios A Polyzos, Konstantinos Anastasilakis, Tim Cundy, Marina Kita
{"title":"Long-Term Denosumab Treatment in Adults with Juvenile Paget Disease.","authors":"Stergios A Polyzos, Konstantinos Anastasilakis, Tim Cundy, Marina Kita","doi":"10.1007/s00223-025-01370-0","DOIUrl":"https://doi.org/10.1007/s00223-025-01370-0","url":null,"abstract":"<p><p>Juvenile Paget disease (JPD) is a very rare disease, mainly caused by biallelic inactivating mutations in the TNFRSF11B gene that encodes osteoprotegerin. Owing to its rarity, the treatment of JPD is largely empirical. Accelerated bone turnover as assessed by biochemical markers, such as alkaline phosphatase (ALP), can be suppressed by bisphosphonate treatment, but it relapses if bisphosphonate treatment is discontinued. In this report, we describe our experience with long-term denosumab treatment in two adults with JPD, homozygous for the \"Balkan\" mutation (966_969delTGACinsCTT) in TNFRSF11B. Subject 1 started denosumab in age 35 and subject 2 in age 34. Both continue treatment until today, for 13.5 and 12 years, respectively. ALP was steadily normalized in both. Bone pain decreased and mobility improved. Hearing did not further deteriorate and no new fracture occurred. Vision remained unchanged in subject 2, but subject 1 experienced sudden vision loss of the right eye at age 46, which was successfully managed with intravitreal treatment with anti-vascular endothelial growth factor medications. In conclusion, long-term denosumab administration in adults with JPD, who had been previously treated with bisphosphonates, was safe and effective in terms of the skeletal disease, but it may not prevent the emergence of retinopathy.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"60"},"PeriodicalIF":3.3,"publicationDate":"2025-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11994531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975117","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
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders. 对骨硬化疾病的自然历史、表型和分子谱的深入研究。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-08 DOI: 10.1007/s00223-025-01366-w
Dilek Uludağ Alkaya, Esra Usluer, Zeynep Alp Ünkar, Ali Şeker, İbrahim Adaletli, Nilay Güneş, Rıza Madazlı, Pınar Kadıoğlu, Murat Derbent, Beyhan Tüysüz
{"title":"Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.","authors":"Dilek Uludağ Alkaya, Esra Usluer, Zeynep Alp Ünkar, Ali Şeker, İbrahim Adaletli, Nilay Güneş, Rıza Madazlı, Pınar Kadıoğlu, Murat Derbent, Beyhan Tüysüz","doi":"10.1007/s00223-025-01366-w","DOIUrl":"10.1007/s00223-025-01366-w","url":null,"abstract":"<p><p>Osteosclerotic bone diseases include more than 30 rare diseases characterized by excessive bone formation. The aim of this study is to compare the molecular pathogenesis and prognostic features of 12 different osteosclerotic diseases. Thirty-four patients from 23 families were included, 25 of whom were followed for a period of one to 22 years. Exome sequencing was performed in 20 families. Primary hypertrophic osteoarthropathy (PHOAR1/2) was found in 12 patients, followed by juvenile Paget's disease (JPD)-5 in five, craniometaphyseal dysplasia (CMD) and Camurati-Engelmann disease (CED) in four, Ghosal hematodiaphyseal dysplasia (GHDD) in three patients, sclerosteosis-1 in two patients, and ultra-rare diseases including trichothiodystrophy-1, prenatal Caffey disease, melorheosteosis, and Lenz-Majewski hyperostotic dwarfism in one patient each. Patients with CMD and sclerosteosis-1 had severe cranial sclerosis leading to facial dysmorphism. CMD was characterized by metaphyseal widening, radiolucency, and diaphyseal sclerosis of the long bones in early childhood and later developed Erlenmeyer flask deformity sparing the vertebrae and pelvis, whereas sclerosteosis-1 manifested as generalized sclerosis. CED and GHDD share bone pain, difficulty in walking, and diaphyseal sclerosis, with some patients also having bone marrow involvement. Interestingly, patients with CED and JPD-5 showed osteopenia in early childhood, followed by the development of osteosclerosis in late childhood. Clinical and radiologic findings improved over time in PHOAR1 patients, whereas they progressed in JPD-5 and trichothiodystrophy-1 patients. Intra- and interfamilial clinical differences were observed in CMD, CED, JPD-5, and GHDD. The knowledge gained about the natural history of osteosclerotic diseases will make an important contribution to their diagnosis and management.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"59"},"PeriodicalIF":3.3,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810558","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
Regulation of Skeletogenic Pathways by m6A RNA Modification: A Comprehensive Review. m6A RNA修饰对骨骼形成途径的调控:综述。
IF 3.3 3区 医学
Calcified Tissue International Pub Date : 2025-04-03 DOI: 10.1007/s00223-025-01367-9
Ehsan Pashay Ahi
{"title":"Regulation of Skeletogenic Pathways by m6A RNA Modification: A Comprehensive Review.","authors":"Ehsan Pashay Ahi","doi":"10.1007/s00223-025-01367-9","DOIUrl":"10.1007/s00223-025-01367-9","url":null,"abstract":"<p><p>In the complex process of skeletal development, the significance of m6A RNA methylation-a predominant form of RNA modification-has not been fully explored. This review discuss how m6A RNA methylation plays an important, though not yet fully understood, role in regulating skeletal formation. It examines how m6A influences key signaling pathways essential for skeletal development and homeostasis, suggesting various possible interactions between m6A methylation and these critical pathways. While the exact mechanisms for many of these interactions remain to be elucidated, m6A RNA methylation is anticipated to be a key emerging regulator in skeletal structure development across vertebrates. Highlighting the need for further research, this overview provides an in-depth look at the potential regulatory interactions of m6A RNA methylation within skeletal system. Uniquely, this review is the most comprehensive compilation of evidence linking components of m6A RNA methylation to signaling pathways involved in skeletogenesis.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"58"},"PeriodicalIF":3.3,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779316","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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