{"title":"Best Laboratory Screening in Diagnosing Secondary Osteoporosis and Fracture Risk Assessment Tool and the National Osteoporosis Guideline Group Performance in Determining Clinical Risk: A Cross-Sectional Evaluation of the Bone Health in Postmenopausal Brazilian Women.","authors":"Marcelo Luis Steiner, Gabriela Polvani Crotti, Juliana Daltrino Teodoro, Raissa Kaori Ikeda, Rodolfo Strufaldi, César Eduardo Fernandes, Luciano de Melo Pompei","doi":"10.11005/jbm.2023.30.1.47","DOIUrl":"https://doi.org/10.11005/jbm.2023.30.1.47","url":null,"abstract":"Background Identifying postmenopausal women with a high risk of having osteoporosis and fractures is a current challenge. This study aimed to assess the diagnostic performance of biochemical tests in identifying secondary osteoporosis and the fracture risk assessment tool (FRAX) in identifying fracture risk. Methods Data from biochemical tests and bone densitometry of postmenopausal women were analyzed. Additionally, the FRAX result was obtained and the patients were classified according to the National Osteoporosis Guideline Group (NOGG). Results A total of 646 women were evaluated, of whom 201 (31.1%) had osteoporosis or a previous frailty fracture. These women had statistically different parathyroid hormone (PTH) and alkaline phosphatase serum levels (P<0.01 and P=0.02, respectively) than those without osteoporosis or fracture. However, those at high risk had a higher prevalence of hypovitaminosis D (46% vs. 36%) and hypocalciuria (17% vs. 9%). The FRAX showed an area under the curve of 0.757 (P<0.01) and 0.788 (P<0.01) for identifying women at risk for “major fractures” and “hip,” respectively. The NOGG categorization had a sensitivity of 19% to identify high-risk women, a specificity of 91.3% for low-risk women, with a positive predictive value of 57.4% and a negative predictive value of 64.6%. Conclusions The evaluation of PTH, 25-hydroxy-vitamin D, serum calcium, and 24-hr urinary calcium proved adequate for initial osteoporosis screening. The FRAX tool has a regular ability to screen women at risk for fracture, and the NOGG method has high specificity to identify those at low risk.","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"30 1","pages":"47-57"},"PeriodicalIF":0.0,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/29/1c/jbm-2023-30-1-47.PMC10036189.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9252180","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":"Health-Related Quality of Life in Osteoporosis Patients with and without Fractures in Tehran, Iran.","authors":"Marziyeh Rajabi, Afshin Ostovar, Ali Akbari Sari, Sayed Mahmoud Sajjadi-Jazi, Abdoreza Mousavi, Bagher Larijani, Noushin Fahimfar, Rajabali Daroudi","doi":"10.11005/jbm.2023.30.1.37","DOIUrl":"https://doi.org/10.11005/jbm.2023.30.1.37","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to measure the health-related quality of life (HRQOL) of patients with osteoporosis with and without fractures in Tehran, the capital city of Iran.</p><p><strong>Methods: </strong>We surveyed a sample of 478 patients with osteoporosis aged over 50 years. Participants with fractures included patients referred to hospitals due to osteoporotic fractures which were alive 6 months after the fracture. Participants without fractures were randomly selected from patients with a definite diagnosis of osteoporosis admitted to 3 outpatient clinics in Tehran. Data were collected using the EuroQol 5-dimensional 5-level questionnaire. Statistical differences between patients with and without fracture were tested with Pearson's χ2 test, Student's t-test, and the Mann-Whitney U-test. The association between HRQOL and other variables was evaluated using a multiple linear regression model.</p><p><strong>Results: </strong>The patients' mean age±standard deviation was 67.3±11.9 years, and 74.1% were women. One hundred and seventeen (23%) patients had hip fractures, 56 (11%) had vertebral fractures, 127 (25%) had forearm fractures, and 178 (40%) had no fractures. The median (interquartile range) values of HRQOL scores of those with hip, vertebral, and forearm fractures and those with no history of fracture were 0.53 (0.22), 0.60 (0.28), 0.64 (0.26), and 0.64 (0.27), respectively. The multiple regression model revealed a significant relationship between the HRQOL scores and sex, marital status, employment status, presence of any chronic illness in addition to osteoporosis, and type of fracture.</p><p><strong>Conclusions: </strong>Osteoporosis and its related fractures can reduce the HRQOL.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"30 1","pages":"37-46"},"PeriodicalIF":0.0,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/39/jbm-2023-30-1-37.PMC10036187.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9252021","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":"Sphenoid Bone Determines the Curvature of the Cranial Vault in Postnatal Skull Development in C57BL/6 Mice.","authors":"Dinuka Adasooriya, Minjae Kyeong, Sung-Won Cho","doi":"10.11005/jbm.2023.30.1.93","DOIUrl":"https://doi.org/10.11005/jbm.2023.30.1.93","url":null,"abstract":"<p><strong>Background: </strong>The skull is a complex structure formed by the craniofacial bones' elaborate organization. The growth pattern in each craniofacial bone of the postnatal skull has been presented in wild-type mice. However, the skull's growth pattern, determined by the craniofacial bones' coordinated growth, is unfamiliar. This study aimed to examine the overall morphological change in the mid-sagittal plane of the postnatal mice's skulls and interaction between the craniofacial bones.</p><p><strong>Methods: </strong>Geometric morphometric principal component analysis was performed in the mid-sagittal plane of 31 wild-type mice's skulls from postnatal days 28 to 98. The relationship between the cranial base and cranial vault was investigated by comparing skulls with early fusion and non-fusion of intersphenoid synchondrosis (ISS).</p><p><strong>Results: </strong>The cranial vault flattening and sphenoid bone length increased with age. The cranial vault curvature and sphenoid base length showed a positive correlation that was confirmed by comparing the skulls with early fusion and non-fusion of ISS. The sphenoid bone length and cranial vault angle significantly decreased in the skulls with early fusion of ISS compared to non-fusion skulls.</p><p><strong>Conclusions: </strong>It is suggested that the cranial vault flattening is sphenoid bone length-induced but cranial vault length-independent during postnatal mice skull development.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"30 1","pages":"93-101"},"PeriodicalIF":0.0,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1c/a1/jbm-2023-30-1-93.PMC10036186.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9252183","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}
Jae-Young Lim, Young Yul Kim, Jin-Woo Kim, Seongbin Hong, Kyunghoon Min, Jaewon Beom, Byung-Ho Yoon, Sang Yoon Lee, Sung Hye Kong, Jun-Il Yoo, Myung Sook Park, Jae-Hwi Nho, Sangbong Ko, Min Wook Joo, Dong Hwan Kim, Chan Ho Park, Tae-Young Kim, Seil Sohn, So Young Park, A Ram Hong, Young Joo Kwon, Sung Bae Park, Young-Kyun Lee, Nam Hoon Moon, Bo Ryun Kim, Yongsoon Park, Yonghan Cha, Yong-Chan Ha
{"title":"Fracture Liaison Service in Korea: 2022 Position Statement of the Korean Society for Bone and Mineral Research.","authors":"Jae-Young Lim, Young Yul Kim, Jin-Woo Kim, Seongbin Hong, Kyunghoon Min, Jaewon Beom, Byung-Ho Yoon, Sang Yoon Lee, Sung Hye Kong, Jun-Il Yoo, Myung Sook Park, Jae-Hwi Nho, Sangbong Ko, Min Wook Joo, Dong Hwan Kim, Chan Ho Park, Tae-Young Kim, Seil Sohn, So Young Park, A Ram Hong, Young Joo Kwon, Sung Bae Park, Young-Kyun Lee, Nam Hoon Moon, Bo Ryun Kim, Yongsoon Park, Yonghan Cha, Yong-Chan Ha","doi":"10.11005/jbm.2023.30.1.31","DOIUrl":"https://doi.org/10.11005/jbm.2023.30.1.31","url":null,"abstract":"<p><p>Osteoporosis and osteoporotic fractures cause socioeconomic concerns, and medical system and policies appear insufficient to prepare for these issues in Korea, where the older adult population is rapidly increasing. Many countries around the world are already responding to osteoporosis and osteoporotic fractures by adopting fracture liaison service (FLS), and such an attempt has only begun in Korea. In this article, we introduce the operation methods for institutions implementing FLS and characteristics of services, and activities of the FLS Committee for FLS implementation in the Korean Society for Bone and Mineral Research. In addition, we hope that the current position statement will contribute to the implementation of FLS in Korea and impel policy changes to enable a multidisciplinary and integrated FLS operated under the medical system.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"30 1","pages":"31-36"},"PeriodicalIF":0.0,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6e/33/jbm-2023-30-1-31.PMC10036182.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9252182","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}
Hasan M Isa, Amira A Ezzaldin, Mohamed M Alabbasi, Noora H ALaazmi, Abdulrahman S Masood, Hissa M Alabbasi
{"title":"Bone Mineral Density in Patients with Pediatric Inflammatory Bowel Disease Using Dual Energy X-Ray Absorptiometry.","authors":"Hasan M Isa, Amira A Ezzaldin, Mohamed M Alabbasi, Noora H ALaazmi, Abdulrahman S Masood, Hissa M Alabbasi","doi":"10.11005/jbm.2023.30.1.59","DOIUrl":"https://doi.org/10.11005/jbm.2023.30.1.59","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory bowel disease (IBD) is a chronic inflammatory immune-mediated condition that affects the gastrointestinal system and alters bone growth and bone mineral density (BMD). Here we aimed to study the prevalence and predictors of a low BMD in pediatric patients with IBD.</p><p><strong>Methods: </strong>This retrospective cross-sectional analytical study included pediatric patients with IBD in whom BMD was evaluated using dual energy X-ray absorptiometry of the total body and lumbar spine. Osteoporosis was defined as a BMD Z-score ≤-2, osteopenia as -2 to -1, and normal as >-1. Clinical and laboratory findings were compared between patients with and without osteoporosis.</p><p><strong>Results: </strong>Of the 48 patients, 30 (62.5%) were males, 35 (72.9%) had Crohn's disease, and 13 (27.1%) had ulcerative colitis. The mean age at diagnosis was 9.9±2.8 years. The median age at the time of the BMD scans was 11.9 (interquartile range, 9.9-14.3) years. Total body BMD scans identified 13 (27.1%) and 16 (33.3%) patients with osteoporosis and osteopenia, respectively. Spinal BMD scans revealed that 17 (39.5%) and 14 (32.6%) patients had osteoporosis and osteopenia, respectively. A low body mass index (BMI) Z-score (p=0.038), ileocolonic disease location (p=0.008), and a low calcium level (p=0.008) were significant predictors of osteoporosis on the total body BMD scans. A low BMI Z-score (p=0.039), decreased hemoglobin level (p=0.018), low calcium level (p=0.033), and infliximab use (p=0.019) were significant predictors of osteoporosis on the spinal BMD scans.</p><p><strong>Conclusions: </strong>This study showed a high prevalence of low BMD among pediatric patients with IBD. A low BMI, ileocolonic disease location, low hemoglobin and calcium levels, and infliximab use were significantly associated with osteoporosis.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"30 1","pages":"59-68"},"PeriodicalIF":0.0,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ad/e3/jbm-2023-30-1-59.PMC10036179.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9252185","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}
Charles A Schurman, Jordan B Burton, Jacob Rose, Lisa M Ellerby, Tamara Alliston, Birgit Schilling
{"title":"Molecular and Cellular Crosstalk between Bone and Brain: Accessing Bidirectional Neural and Musculoskeletal Signaling during Aging and Disease.","authors":"Charles A Schurman, Jordan B Burton, Jacob Rose, Lisa M Ellerby, Tamara Alliston, Birgit Schilling","doi":"10.11005/jbm.2023.30.1.1","DOIUrl":"10.11005/jbm.2023.30.1.1","url":null,"abstract":"<p><p>Molecular omics technologies, including proteomics, have enabled the elucidation of key signaling pathways that mediate bidirectional communication between the brain and bone tissues. Here we provide a brief summary of the clinical and molecular evidence of the need to study the bone-brain axis of cross-tissue cellular communication. Clear clinical and molecular evidence suggests biological interactions and similarities between bone and brain cells. Here we review the current mass spectrometric techniques for studying brain and bone diseases with an emphasis on neurodegenerative diseases and osteoarthritis/osteoporosis, respectively. Further study of the bone-brain axis on a molecular level and evaluation of the role of proteins, neuropeptides, osteokines, and hormones in molecular pathways linked to bone and brain diseases is critically needed. The use of mass spectrometry and other omics technologies to analyze these cross-tissue signaling events and interactions will help us better understand disease progression and comorbidities and potentially identify new pathways and targets for therapeutic interventions. Proteomic measurements are particularly favorable for investigating the role of signaling and secreted and circulating analytes and identifying molecular and metabolic pathways implicated in age-related diseases.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"30 1","pages":"1-29"},"PeriodicalIF":0.0,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0b/17/jbm-2023-30-1-1.PMC10036181.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9473625","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}
Hee Soo Han, Jung Geul Kim, Yoon Hyo Choi, Kyoung Min Lee, Tae Hun Kwon, Sae Hun Kim
{"title":"Erratum to: Effect of Lactobacillus Fermentum as a Probiotic Agent on Bone Health in Postmenopausal Women.","authors":"Hee Soo Han, Jung Geul Kim, Yoon Hyo Choi, Kyoung Min Lee, Tae Hun Kwon, Sae Hun Kim","doi":"10.11005/jbm.2023.30.1.115","DOIUrl":"https://doi.org/10.11005/jbm.2023.30.1.115","url":null,"abstract":"","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"30 1","pages":"115"},"PeriodicalIF":0.0,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/87/1d/jbm-2023-30-1-115.PMC10036184.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9252184","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}
Sangyeob Lee, Ji-Seok Kim, Ki-Soo Park, Kyung-Wan Baek, Jun-Il Yoo
{"title":"Daily Walking Accompanied with Intermittent Resistance Exercise Prevents Osteosarcopenia: A Large Cohort Study.","authors":"Sangyeob Lee, Ji-Seok Kim, Ki-Soo Park, Kyung-Wan Baek, Jun-Il Yoo","doi":"10.11005/jbm.2022.29.4.255","DOIUrl":"https://doi.org/10.11005/jbm.2022.29.4.255","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to analyze the effects of walking and resistance exercises on bone structure, bone mineral density (BMD), and skeletal muscle mass. We used data from the fourth Korean National Health and Nutrition Examination Survey (KNHANES).</p><p><strong>Methods: </strong>A total of 3,477 participants aged ≥19 years underwent hip structural analysis (HSA), BMD, and skeletal muscle index (SMI). All radiologic evaluations were performed using dual energy X-ray absorptiometry (DXA). The Korean short version of the International Physical Activity Questionnaire was used to measure physical activity status. The physical activity recommendations of the American College of Rheumatology Work Group Panel were used to evaluate the extent of activity.</p><p><strong>Results: </strong>The BMD and SMI in the group in which walking activity was performed 5 days or more per week for at least 30 min per day were significantly higher than those in the group in which walking activity was not performed. HSA and SMI in the group in which resistance exercise was performed 2 days or more per week for at least 30 min per day were found to be significantly higher than those in the group in which strengthening exercises were not performed.</p><p><strong>Conclusions: </strong>If resistance exercise and walking are combined, bone loss and muscle loss are prevented maintaining cortical thickness in the elderly. Walking for more than 5 days a week and resistance exercise for more than 2 days a week will help to maintain the skeletal muscle as well as the cortex around the femur neck, thus helping to prevent fragility fractures in older individuals.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"29 4","pages":"255-263"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/88/jbm-2022-29-4-255.PMC9760770.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10420947","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}
Arthur Costa Inojosa, Laís Mendes, Leonardo Bandeira, Francisco Bandeira
{"title":"The Role of Bisphosphonates Prior to Denosumab Treatment on Rebound Fractures: A Mini Review.","authors":"Arthur Costa Inojosa, Laís Mendes, Leonardo Bandeira, Francisco Bandeira","doi":"10.11005/jbm.2022.29.4.217","DOIUrl":"https://doi.org/10.11005/jbm.2022.29.4.217","url":null,"abstract":"<p><p>Denosumab is a potent anti-resorptive medication used to treat patients at high risk for osteoporosis; however, its beneficial effects on the skeletal system are quickly reversed after discontinuation. In contrast, bisphosphonates (BPs) are anti-resorptive agents with residual effects on the bone matrix; thus, these are capable of preserving bone mass for a long time. Therefore, subsequent anti-resorptive treatment with BPs is mandatory to prevent rebound fractures. Furthermore, BP administration before denosumab treatment appears to be a reasonable strategy for reducing hyperactivation of bone remodeling. In this review, we summarize the effects of BP administration before denosumab treatment in preventing rebound fractures after denosumab discontinuation.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"29 4","pages":"217-223"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cf/cd/jbm-2022-29-4-217.PMC9760774.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10420946","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":"Five-Year Assessment of Multiple Gene Variants Associated with Bone Marrow Hypocellularity, Reduced Bone Density, and Ovarian Insufficiency in Adolescence.","authors":"E Scott Sills, Conor Harrity, Samuel H Wood","doi":"10.11005/jbm.2022.29.4.271","DOIUrl":"https://doi.org/10.11005/jbm.2022.29.4.271","url":null,"abstract":"<p><p>This study covers the 5-year interval prior to COVID-19 admission for an otherwise healthy 46,XX adolescent expanding the developmental characterization of an unusual convergence of amenorrhea and genetic mutations. The patient experienced rapid collapse of endogenous estradiol output followed by secondary amenorrhea at 13 years of age. Euploid, diffusely hypocellular bone marrow was present on biopsy, although anemia or reduced total immunoglobulin production was not identified. Bone density was 1.5 years below mean; multiple dental anomalies were also documented. While alterations in \"master regulator\" genes RUNX2, SALL1, and SAMD9 are usually diagnosed in early childhood when missed milestones, dysmorphic features, or chronic infection/immune impairment warrant cross-disciplinary evaluation, this study is the first known report to associate ovarian failure with adolescence with such variants. Immunoglobulin patterns, osseous histomorphology, dentition, hematology/renal screening, pelvic anatomy, ovarian reserve data, and thyroid findings are also correlated. Although severe pathology is typically encountered when any of these genes are disrupted alone, this longitudinal survey reveals that a mild phenotype can prevail if these 3 variants occur simultaneously. Periodic monitoring is planned given the unclassified status of this unique mutation set.</p>","PeriodicalId":15070,"journal":{"name":"Journal of Bone Metabolism","volume":"29 4","pages":"271-277"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8a/06/jbm-2022-29-4-271.PMC9760775.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10413544","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}