Article
Orthopedics
Ke Lu, Biao Cheng, Qin Shi, Xiao-Jiao Gao, Chong Li
Summary: The study reported a successful ACL reconstruction surgery in a 30-year-old female with ADO-2, using LARS artificial ligament, which led to good knee function recovery postoperatively.
BMC MUSCULOSKELETAL DISORDERS
(2022)
Article
Orthopedics
Yi Tu, Fan-xiao Liu, Hong-lei Jia, Juan-juan Yang, Xiao-long Lv, Chao Li, Jun-wei Wu, Fu Wang, Yong-liang Yang, Bo-min Wang
Summary: The study demonstrates the application of reversed contralateral DF-LCP through a progressive and intermittent drilling procedure in the treatment of OSF. The method was efficient and safe, with good outcomes in terms of bone union and hip joint function. Long-term follow-up showed no perioperative or long-term complications.
ORTHOPAEDIC SURGERY
(2022)
Review
Endocrinology & Metabolism
Giammarco De Mattia, Michele Maffi, Marta Mosca, Maurizio Mazzantini
Summary: This study provides a historical overview of a disorder called LRP5 high bone mass, which is caused by mutations of the LRP5 gene. It clarifies the confusion caused by different names and lack of reviews. The study examines the clinical manifestations and prevalence of the disease, and identifies neurological symptoms previously considered absent.
ARCHIVES OF OSTEOPOROSIS
(2023)
Article
Endocrinology & Metabolism
Michael P. Whyte, Steven Mumm, Jonathan C. Baker, Fan Zhang, Homer Sedighi, Shenghui Duan, Tim Cundy
Summary: Osteoblast Wnt/beta-catenin signaling regulates skeletal development and health. The binding of Wnt to LRP5 or LRP6 stimulates bone formation, while sclerostin or dickkopf1 inhibits osteogenesis by dissociating the co-receptors from the frizzled receptor. Heterozygous mutations in LRP5 and LRP6 can cause LRP5 and LRP6 high bone mass (HBM) disorders.
Article
Endocrinology & Metabolism
Michael P. Whyte
Summary: The disorder initially called marble bones, then in 1926 more appropriately referred to as osteopetrosis, was discovered in 1904 by Heinrich E. Albers-Schoenberg. In 1936, a fundamental defect in hematopoiesis was hypothesized, and by 1938, the signature histopathological finding of osteopetrosis was recognized. Besides the lethal form, a less severe form of osteopetrosis was also identified as an inherited condition.
Article
Endocrinology & Metabolism
Michael P. Whyte, William H. McAlister, Vandana Dhiman, Nirmal Raj Gopinathan, Sanjay K. Bhadada
Summary: Osteopetrosis is a condition caused by the failure of osteoclasts to resorb bone and chondroclasts to remove calcified physeal cartilage, resulting in impaired skeletal modeling, remodeling, and growth. Severe cases can lead to anemia, raised intracranial pressure, and cranial nerve palsies. Osteopetrotic bones are prone to fracture due to misshaping, impaired remodeling, and delayed healing of microcracks. Teeth eruption may also be affected.
Article
Orthopedics
Julian Ramin Andresen, Anna Schrum, Sebastian Radmer, Reimer Andresen
Summary: Osteopetrosis is a rare hereditary bone disease characterized by abnormal bone metabolism leading to bone matrix accumulation. A case study of an 80-year-old woman with ADOII showed significantly elevated bone mass, leading to immobilizing pain that was successfully managed with conservative therapy.
Article
Endocrinology & Metabolism
Michael P. Whyte
Summary: Carbonic anhydrase II (CA II) deficiency is an osteopetrosis syndrome that affects skeletal and kidney tubule function. It is characterized by failure of osteoclasts to resorb bone and renal tubular acidosis. The disorder is often accompanied by mental retardation and cerebral calcification.
Article
Endocrinology & Metabolism
Michael P. Whyte, Amanda Blythe, William H. McAlister, Angela R. Nenninger, Vinieth N. Bijanki, Steven Mumm
JOURNAL OF BONE AND MINERAL RESEARCH
(2015)
Article
Endocrinology & Metabolism
Michael P. Whyte, William H. McAlister, Michael D. Fallon, Mary Ella Pierpont, Vinieth N. Bijanki, Shenghui Duan, Ghada A. Otaify, William S. Sly, Steven Mumm
JOURNAL OF BONE AND MINERAL RESEARCH
(2017)
Article
Endocrinology & Metabolism
Michael P. Whyte, Emilina Lim, William H. McAlister, Gary S. Gottesman, Lien Trinh, Deborah J. Veis, Vinieth N. Bijanki, Matthew G. Boden, Angela Nenninger, Steven Mumm, David Buchbinder
JOURNAL OF BONE AND MINERAL RESEARCH
(2018)
Article
Endocrinology & Metabolism
Michael P. Whyte, S. Deepak Amalnath, William H. McAlister, Radhakrishna Pedapati, Vivekanandan Muthupillai, Shenghui Duan, Margaret Huskey, Vinieth N. Bijanki, Steven Mumm
Article
Endocrinology & Metabolism
Steven Mumm, Gary S. Gottesman, Deborah Wenkert, Philippe M. Campeau, Angela Nenninger, Margaret Huskey, Vinieth N. Bijanki, Deborah J. Veis, Aileen M. Barnes, Joan C. Marini, Marina Stolina, Fan Zhang, William H. McAlister, Michael P. Whyte
Article
Endocrinology & Metabolism
Michael P. Whyte, S. Deepak Amalnath, William H. McAlister, Marc D. McKee, Deborah J. Veis, Margaret Huskey, Shenghui Duan, Vinieth N. Bijanki, Suhas Alur, Steven Mumm
Article
Endocrinology & Metabolism
Michael P. Whyte, Nina S. Ma, Steven Mumm, Gary S. Gottesman, William H. McAlister, Angela R. Nenninger, Vinieth N. Bijanki, Karen L. Ericson, Per Magnusson
Article
Cell Biology
Lauren E. Surface, Damon T. Burrow, Jinmei Li, Jiwoong Park, Sandeep Kumar, Cheng Lyu, Niki Song, Zhou Yu, Abbhirami Rajagopal, Yangjin Bae, Brendan H. Lee, Steven Mumm, Charles C. Gu, Jonathan C. Baker, Mahshid Mohseni, Melissa Sum, Margaret Huskey, Shenghui Duan, Vinieth N. Bijanki, Roberto Civitelli, Michael J. Gardner, Chris M. McAndrew, William M. Ricci, Christina A. Gurnett, Kathryn Diemer, Fei Wan, Christina L. Costantino, Kristen M. Shannon, Noopur Raje, Thomas B. Dodson, Daniel A. Haber, Jan E. Carette, Malini Varadarajan, Thijn R. Brummelkamp, Kivanc Birsoy, David M. Sabatini, Gabe Haller, Timothy R. Peterson
SCIENCE TRANSLATIONAL MEDICINE
(2020)
Article
Endocrinology & Metabolism
Elizabeth L. Lin, Gary S. Gottesman, Willliam Mcalister, Vinieth N. Bijanki, Karen E. Mack, Donna Griffin, Steven Mumm, Michael P. Whyte
Article
Endocrinology & Metabolism
Michael P. Whyte, Philippe M. Campeau, William H. McAlister, G. David Roodman, Nori Kurihara, Angela Nenninger, Shenghui Duan, Gary S. Gottesman, Vinieth N. Bijanki, Homer Sedighi, Deborah J. Veis, Steven Mumm
Review
Endocrinology & Metabolism
Fiona J. Cook, Maighan Seagrove-Guffey, Steven Mumm, Deborah J. Veis, William H. McAlister, Vinieth N. Bijanki, Deborah Wenkert, Michael P. Whyte
Summary: This case report highlights a male patient who experienced chronic musculoskeletal pain and developed skeletal fluorosis due to inhaling difluoroethane found in computer cleaner. Symptoms improved with calcium and vitamin D supplementation, and investigations into unusual causes of non-endemic SF revealed common sources such as high consumption of black tea, use of fluoride-containing toothpaste, and inhalation of fluorine-containing vapors.
Article
Endocrinology & Metabolism
Michael P. Whyte, James Aronson, William H. McAlister, Robert S. Weinstein, Deborah Wenkert, Karen L. Clements, Gary S. Gottesman, Katherine L. Madson, Marina Stolina, Vinieth N. Bijanki, Horacio Plotkin, Margaret Huskey, Shenghui Duan, Steven Mumm
Summary: The study reported a rare bone disease affecting a 12-year-old boy and an unrelated 51-year-old woman, both demonstrating similar symptoms and a genetic mutation. The boy's skeletal bones coalesced into a single structure by age 10, while the woman suffered from this disease lifelong and showed accelerated bone turnover. Both individuals harbored the heterozygous point mutation in IFITM5 associated with osteogenesis imperfecta type V.
Article
Endocrinology & Metabolism
Michael P. Whyte, Fan Zhang, Deborah Wenkert, Karen E. Mack, Vinieth N. Bijanki, Karen L. Ericson, Stephen P. Coburn
Summary: Hypophosphatasia (HPP) is a heritable dento-osseous disease caused by loss-of-function mutations in the ALPL gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). The disease is characterized by diminished TNSALP activity leading to inhibition of mineralization and disruption of vitamin B-6 metabolism.
Article
Endocrinology & Metabolism
Michael P. Whyte, Malachi Griffith, Lee Trani, Steven Mumm, Gary S. Gottesman, William H. McAlister, Kilannin Krysiak, Robert Lesurf, Zachary L. Skidmore, Katie M. Campbell, Ilana S. Rosman, Susan Bayliss, Vinieth N. Bijanki, Angela Nenninger, Brian A. Van Tine, Obi L. Griffith, Elaine R. Mardis
Review
Endocrinology & Metabolism
Jemima E. Schadow, David Maxey, Toby O. Smith, Mikko A. J. Finnila, Sarah L. Manske, Neil A. Segal, Andy Kin On Wong, Rachel A. Davey, Tom Turmezei, Kathryn S. Stok
Summary: This study systematically reviewed the published parameters for assessing subchondral bone in human osteoarthritis using computed tomography. The study identified clinically meaningful parameter categories and emphasized the importance of quantification and standardized measurement methods for improving the evaluation of disease progression.
Article
Endocrinology & Metabolism
Lindsay L. Loundagin, Kim D. Harrison, Xuan Wei, David M. L. Cooper
Summary: This study developed new techniques to define zones of BMU activity based on the 3D morphology of remodeling spaces in rabbit cortical bone and integrated morphological data with the BMU longitudinal erosion rate (LER) to elucidate the spatial-temporal coordination of BMUs and estimate mineral apposition rate (MAR). The results showed that the manual and semi-automated methods accurately defined the zones of remodeling spaces, and these techniques have the potential to assess dynamic parameters of bone resorption and formation.
Article
Endocrinology & Metabolism
Soroush Masrouri, Farzad Esmaeili, Maryam Tohidi, Fereidoun Azizi, Farzad Hadaegh
Summary: This study examined the association between estimated glomerular filtration rate (eGFR) decline and fracture incidence. The results showed that rapid kidney function decline (RKFD) can increase the incidence of fractures among the general population.
Article
Endocrinology & Metabolism
Steven J. Meas, Gabriella M. Daire, Michael A. Friedman, Rachel Denapoli, Preetam Ghosh, Joshua N. Farr, Henry J. Donahue
Summary: Age- and disuse-related bone loss both lead to decreases in bone mineral density, cortical thickness, and trabecular thickness and connectivity. It is important to experimentally compare these two mechanisms at a structural and transcriptomic level to better understand their similarities and differences. This study compares the effects of hindlimb unloading and aging on bone microarchitecture and gene expression in mice, finding that while both induce similar changes, aging has a greater impact on the transcriptome and tissue level.
Correction
Endocrinology & Metabolism
Masaru Matsuoka, Sho Tsukamoto, Yuta Orihara, Rieko Kawamura, Mai Kuratani, Nobuhiko Haga, Kenji Ikebuchi, Takenobu Katagiri
Article
Endocrinology & Metabolism
Rachel Kohler, Amy Creecy, David R. Williams, Matthew R. Allen, Joseph M. Wallace
Summary: Osteogenesis imperfecta is a hereditary bone disease that weakens bones and increase fracture risk. Current interventions mainly focus on increasing bone mass, but the compromised tissue-level material properties are not addressed. A study found that a RAL analog could reduce fracture risk, but further development is needed for optimal results in patients with osteogenesis imperfecta.
Article
Endocrinology & Metabolism
So Jeong Park, Eunhye Ji, Hyun Ju Yoo, Kyunggon Kim, Sunghwan Ji, Ji Yeon Baek, Jin Young Lee, Hee-Won Jung, Il-Young Jang, Eunju Lee, Namki Hong, Beom-Jun Kim
Summary: The study analyzed the relationship between serum lumican levels and osteosarcopenia in older adults, showing that older adults with osteosarcopenia had lower serum lumican levels. Lower serum lumican levels were associated with reduced bone mass and grip strength, indicating that lumican levels could be used as a biomarker for assessing the risk of osteosarcopenia, osteoporosis, or sarcopenia in older adults.
Article
Endocrinology & Metabolism
Michael B. Chavez, Michelle H. Tan, Tamara N. Kolli, Natalie L. Andras, Brian L. Foster
Summary: This study revealed the complex mechanisms by which disabling BSP functional domains led to profound and distinct changes in cementoblast cell functions, including dysregulated gene expression and reduced mineralization.
Article
Endocrinology & Metabolism
Julien Seiller, Blandine Merle, Romain Fort, Emilie Virot, Solene Poutrel, Giovanna Cannas, Arnaud Hot, Roland Chapurlat
Summary: The purpose of this study was to assess the prevalence of bone fragility in sickle cell patients and to evaluate the potential risk factors and associated complications.
Article
Endocrinology & Metabolism
Chirantap Oza, Anuradha Khadilkar, Pranay Goel, Madhura Karguppikar, Nikhil Shah, Nikhil Lohiya, Shruti Mondkar, Prashant Patil, Hemchand Prasad, Ankita Maheshwari, Dipali Ladkat, Neha Kajale, Chidvilas More, Devarati Khurjekar, Vaman Khadilkar
Summary: This study revealed that BoneXpert (BX) can be used for accurate assessment of bone age and screening of bone health in Indian children and youth with type-1 diabetes (T1D). 51.5% of T1D subjects showed significantly decreased metacarpal index (MCI). Height, Tanner stage, and vitamin D concentrations were positively correlated with MCI, while HbA1c and disease duration were negatively correlated with MCI.
Article
Endocrinology & Metabolism
Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl Rockman-Greenberg, Kathryn Dahir, Gabriel Angel Martos-Moreno, Agnes Linglart, Keiichi Ozono, Lothar Seefried, Guillermo del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M. A. Delana Mudiyanselage, Florian Hoegler, Erica Burner Nading, Erin Huggins, Eric T. Rush, Ahmed El-Gazzar, Priya S. Kishnani, Wolfgang Hoegler
Summary: The ALPL gene variant database serves as an archive for interpreting the clinical significance of ALPL gene variants, facilitating the reclassification of VUS and continuous updates. The project establishes an international expert consortium, providing a multidisciplinary collaboration framework to improve genetic counseling and medical decision-making for HPP patients.
Article
Endocrinology & Metabolism
Giovanni Adami, Davide Gatti, Maurizio Rossini, Alessandro Giollo, Matteo Gatti, Francesco Bertoldo, Eugenia Bertoldo, Amy S. Mudano, Kenneth G. Saag, Ombretta Viapiana, Angelo Fassio
Summary: Certain diseases requiring glucocorticoids are independently associated with an increased risk of fractures. Chronic obstructive pulmonary disease (COPD) and neurological diseases are associated with both vertebral and non-vertebral fracture risk, while rheumatoid arthritis (RA) and inflammatory bowel disease (IBD) are only associated with non-vertebral fractures.
Article
Endocrinology & Metabolism
Frank C. Ko, Rong Xie, Brandon Willis, Zoe G. Herdman, Bryan A. Dulion, Hoomin Lee, Chun-do Oh, Di Chen, D. Rick Sumner
Summary: Intramembranous bone regeneration is important in joint and tooth replacement, but its underlying mechanisms are not well understood. This study found that increased periostin gene expression preceded increases in osteogenic genes during bone regeneration. Using a genetic mouse model, the researchers discovered that cells transiently expressing periostin played a critical role in intramedullary intramembranous bone regeneration.
Article
Endocrinology & Metabolism
T. Savikangas, T. H. Suominen, M. Alen, T. Rantalainen, S. Sipila
Summary: Regular exercise, especially high-intensity physical activity, can help slow down age-related bone loss and prevent a decline in femoral neck bone mineral density.
Article
Endocrinology & Metabolism
Mishaela R. Rubin, Ruban Dhaliwal
Summary: The increased risk of fractures observed in adults with type 1 diabetes (T1D) cannot be solely explained by modest decreases in areal bone mineral density (BMD). Accumulation of advanced glycation endproducts (AGEs) in bone has been suggested as a possible cause for the increased bone fragility in diabetes. Although the evidence linking AGEs and fractures in individuals with T1D is limited, recent data show that AGEs, as measured by skin intrinsic fluorescence, are a risk factor for lower BMD in T1D. Further research is needed to determine if there is a causal relationship between fractures and AGEs in T1D. If confirmed, this could lead to interventions that can reduce AGE accumulation and ultimately reduce fractures in T1D patients.