Article
Endocrinology & Metabolism
Iris R. Hartley, Rachel Gafni, Kelly L. Roszko, Sydney M. Brown, Luis F. de Castro, Amanda Saikali, Carlos R. Ferreira, William A. Gahl, Karel Pacak, Jenny E. Blau, Alison M. Boyce, Isidro B. Salusky, Michael T. Collins, Pablo Florenzano
Summary: Measurement of fibroblast growth factor-23 (FGF23) is crucial for the evaluation of patients with phosphate homeostasis disorders. Existing laboratory reference ranges may lead to misdiagnosis in FGF23-mediated hypophosphatemia patients, so it is important to determine diagnostic FGF23 levels for these patients. By studying patients with different types of hypophosphatemia, we established cut-off levels for intact FGF23 (iFGF23) and C-terminal FGF23 (cFGF23) that accurately distinguish between FGF23-mediated and FGF23-independent hypophosphatemia.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Medicine, General & Internal
Luis Arboleya, Ignacio Brana, Estefania Pardo, Marta Loredo, Ruben Queiro
Summary: Osteomalacia is a series of disorders characterized by altered mineralization of the skeleton, which can be caused by various genetic or acquired disorders, including nutritional deficiencies. It is important to differentiate osteomalacia from other bone diseases to avoid misdiagnosis and incorrect treatment. Clinicians should be aware of the subtle manifestations and radiological features of osteomalacia, and consider it as a possible cause of therapeutic failures in patients with other bone diseases.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
M. Jimenez, D. Ivanovic-Zuvic, C. Loureiro, C. A. Carvajal, G. Cavada, P. Schneider, E. Gallardo, C. Garcia, G. Gonzalez, O. Contreras, M. T. Collins, P. Florenzano
Summary: The most comprehensive clinical and molecular characterization of XLH patients performed in Chile showed high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life. These findings suggest a significant unmet need and can inform care for XLH patients in similarly socioeconomically defined countries.
OSTEOPOROSIS INTERNATIONAL
(2021)
Article
Endocrinology & Metabolism
Zhiliang Cheng, Kevin O'Brien, Jennifer Howe, Caitlin Sullivan, Denis Schrier, Angela Lynch, Steven Jungles, Yves Sabbagh, David Thompson
Summary: ENPP1 deficiency leads to severe clinical manifestations such as ectopic calcification, neointimal proliferation, impaired growth, and bone deformities. The human ENPP1-Fc protein INZ-701 shows potential as an enzyme replacement therapy for the treatment of ENPP1 deficiency, as demonstrated in Enpp1(asj/asj) mice.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Endocrinology & Metabolism
Xiuying Bai, Mark Levental, Andrew C. Karaplis
Summary: This study evaluated the safety and efficacy of burosumab in patients with ARHR1. The results showed that burosumab could normalize serum phosphate, alleviate symptoms, improve fractures and bone pain, and reduce incapacity associated with the disease. No adverse effects were reported.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Agnes Linglart, Erik A. Imel, Michael P. Whyte, Anthony A. Portale, Wolfgang Hogler, Annemieke M. Boot, Raja Padidela, William Van't Hoff, Gary S. Gottesman, Angel Chen, Alison Skrinar, Mary Scott Roberts, Thomas O. Carpenter
Summary: In children with XLH, treatment with burosumab for 160 weeks improved phosphate homeostasis, reduced rickets severity, and showed good tolerability.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Anne Gladding, Vivian Szymczuk, Bethany A. Auble, Alison M. Boyce
Summary: This study reports the first case of a 7-year-old boy with FD/MAS treated with burosumab. The patient achieved normalization of serum phosphorus, marked improvement in alkaline phosphatase levels, and showed encouraging clinical response without any observed adverse effects. Future studies are needed to further explore the safety and efficacy of burosumab in the pediatric population with FD/MAS.
Review
Endocrinology & Metabolism
Ariadne Bosman, Andrea Palermo, Julien Vanderhulst, Suzanne M. Jan De Beur, Seiji Fukumoto, Salvatore Minisola, Weibo Xia, Jean-Jacques Body, M. Carola Zillikens
Summary: Tumor-induced osteomalacia (TIO) is a rare and often underestimated paraneoplastic condition. This study systematically reviewed published cases of TIO and found that hypophosphatemia and low or normal serum vitamin D levels are characteristic features. Diagnostic delay for TIO is often longer than 2 years, and clinical manifestations include skeletal involvement and fractures. Understanding the importance of TIO can help reduce diagnostic delay and its clinical consequences.
CALCIFIED TISSUE INTERNATIONAL
(2022)
Article
Endocrinology & Metabolism
Yasuo Imanishi, Nobuaki Ito, Yumie Rhee, Yasuhiro Takeuchi, Chan Soo Shin, Yutaka Takahashi, Hiroki Onuma, Masahiro Kojima, Masanori Kanematsu, Hironori Kanda, Yoshiki Seino, Seiji Fukumoto
Summary: Burosumab (KRN23) shows promising efficacy and tolerability in patients with TIO, effectively increasing serum phosphate levels, improving bone metabolism and pain, especially beneficial for patients who are not eligible for tumor resection.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Anna Danielewicz, Magdalena Wojciak, Ireneusz Sowa, Monika Kusz, Joanna Wessely-Szponder, Slawomir Dresler, Michal Latalski
Summary: This study investigated the concentrations of bone remodeling-related agents in adolescent idiopathic scoliosis (AIS) patients, and found that the levels of vitamin D, N-terminal propeptide of type I procollagen, and fibroblast growth factor-23 were altered in these patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Endocrinology & Metabolism
Yuichi Takashi, Daiji Kawanami, Seiji Fukumoto
Summary: This review discussed the pathogenesis of X-linked hypophosphatemia and tumor-induced osteomalacia, as well as the new treatment strategy involving the use of an anti-FGF23 monoclonal antibody, burosumab. Inhibition of excessive FGF23 activity has been approved as a new therapy for these hypophosphatemic diseases, but further studies are needed to determine the long-term effects and safety of burosumab.
CURRENT OSTEOPOROSIS REPORTS
(2021)
Article
Endocrinology & Metabolism
Kelly Lauter Roszko, Sydney Brown, Ying Pang, Thanh Huynh, Zhengping Zhuang, Karel Pacak, Michael T. Collins
Summary: FGF23 is a key hormone regulating phosphate and vitamin D, with complex pathways involved in its physiology. Studies suggest the HIF/EPO pathway may play a direct role in FGF23 transcription and translation. Research in rare cases highlights the finely tuned posttranslational regulation to maintain normal blood phosphate levels despite elevated C-terminal FGF23 levels.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Rheumatology
Justine Bacchetta, Anya Rothenbuhler, Iva Gueorguieva, Peter Kamenicky, Jean-Pierre Salles, Karine Briot, Agnes Linglart
Summary: Hereditary hypophosphatemia with increased FGF23 levels is a rare inherited metabolic disease characterized by low serum phosphate levels. Treatment options include oral phosphate supplementation with active vitamin D analogs or the recently approved anti-FGF23 drug burosumab.
Article
Endocrinology & Metabolism
Diana Ovejero, Iris R. Hartley, Luis Fernandez de Castro Diaz, Elizabeth Theng, Xiaobai Li, Rachel Gafni, Michael T. Collins
Summary: The study found that the effects of PTH and FGF23 on phosphate regulation are interdependent, and both are required for adequate renal phosphate handling.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Nutrition & Dietetics
Roger Bouillon, Leen Antonio, Oscar Rosero Olarte
Summary: Vitamin D deficiency has adverse effects on both skeletal and extra-skeletal health. The optimal level of vitamin D remains a subject of debate. Observational studies suggest a link between low vitamin D levels and increased infection risk and cardiovascular events, but intervention studies have not shown clear benefits on these outcomes. Pregnancy supplementation with vitamin D reduces the risk of certain complications. The role of vitamin D in neurodegenerative diseases is still unclear. Vitamin D supplementation may have a marginal effect on overall mortality risk, particularly in elderly individuals with low vitamin D levels.
Article
Engineering, Biomedical
Montana T. Morris, Kareme D. Alder, Alexander Moushey, Alana M. Munger, Kenneth Milligan, Courtney Toombs, Devin Conway, Inkyu Lee, Fancheng Chen, Steven M. Tommasini, Francis Y. Lee
Summary: This study aimed to determine the most effective technique of percutaneous acetabular augmentation for joint preservation. The combination of screws and bone cement augmentation was found to provide better protection against intraarticular fractures and higher resilience to cyclic loading compared to other techniques.
CLINICAL BIOMECHANICS
(2022)
Article
Biochemical Research Methods
Mauro Pulin, Kilian E. Stockhausen, Olivia A. Masseck, Martin Kubitschke, Bjoern Busse, J. Simon Wiegert, Thomas G. Oertner
Summary: It is found that there is strong polarization sensitivity in GPCR-based neurotransmitter sensors, which leads to the loss of membrane signal in dendrites parallel to the polarization direction of the excitation beam. By designing an optical device that generates interleaved pulse trains of orthogonal polarization, the directional bias in fluorescence and second-harmonic (SHG) images can be eliminated.
BIOMEDICAL OPTICS EXPRESS
(2022)
Article
Oncology
Laura Brylka, Katharina Jaehn-Rickert, Anke Baranowsky, Mona Neven, Michael Horn, Timur Yorgan, Harriet Wikman, Stefan Werner, Andreas Luebke, Michael Amling, Bjoern Busse, Klaus Pantel, Thorsten Schinke
Summary: Breast cancer cells often metastasize to bone, where their interaction with bone remodeling cell types enhances osteolytic bone destruction. By injecting breast cancer cells into immunocompromised mice, it was found that there were more tumor cells in the spine compared to femora, and the presence of a transgene did not affect their spreading and metastatic outgrowth.
Article
Agriculture, Dairy & Animal Science
Maria Morell, Laura Rojas, Martin Haulena, Bjoern Busse, Ursula Siebert, Robert E. Shadwick, Stephen A. Raverty
Summary: This study reports for the first time the selective inner hair cell loss in a marine mammal neonate, indicating a possible congenital hearing issue. Baseline knowledge on malformations in the inner ear of pinnipeds is essential to differentiate between congenital and acquired abnormalities.
Article
Engineering, Biomedical
Felix N. Schmidt, Michael Hahn, Kilian E. Stockhausen, Tim Rolvien, Constantin Schmidt, Tobias Knopp, Christian Schulze, Klaus Pueschel, Michael Amling, Bjorn Busse
Summary: Doses of irradiation above 25 kGy are known to cause irreversible mechanical decay in bone tissue. However, the impact of irradiation doses absorbed in a clinical setting on the mechanical properties of bone remains unclear. This study investigated high irradiation doses of 31.2 kGy and found that they severely alter the mechanical properties of bone, while doses below 30 Gy do not have an impact on mechanical bending-behavior of bone.
MATERIALS TODAY BIO
(2022)
Article
Engineering, Biomedical
Mihee Shin, Min Zhang, Annika vom Scheidt, Matthew H. Pelletier, William R. Walsh, Penny J. Martens, Jamie J. Kruzic, Bjorn Busse, Bernd Gludovatz
Summary: Water is important for bone strength and ductility. This study compares the effects of different dehydration environments on bone toughness and reveals that testing bone samples in scanning electron microscopes (SEMs) results in lower crack initiation toughness and enhanced toughness through microcracking and crack path deflections. The type of SEM used does not affect the results. The study also finds that testing in ambient air leads to elevated crack growth resistance compared to testing in a bio-bath.
JOURNAL OF THE MECHANICAL BEHAVIOR OF BIOMEDICAL MATERIALS
(2022)
Review
Endocrinology & Metabolism
Lorenz C. Hofbauer, Bjoern Busse, Richard Eastell, Serge Ferrari, Morten Frost, Ralph Mueller, Andrea M. Burden, Fernando Rivadeneira, Nicola Napoli, Martina Rauner
Summary: Increased fracture risk is a serious complication of diabetes, leading to prolonged immobility and hospitalizations that can result in significant morbidity and mortality. In type 1 diabetes, bone mass and strength are reduced, leading to a five-fold increased risk of lifelong fractures. In type 2 diabetes, fracture risk is increased despite normal bone mass. The fragility of bones in diabetes can be attributed to cellular abnormalities, matrix interactions, immune and vascular changes, and musculoskeletal maladaptation to chronic hyperglycemia.
LANCET DIABETES & ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Kristin Zimmerman, Xiaochen Liu, Simon von Kroge, Paul Stabach, Ethan R. Lester, Emily Y. Chu, Shivani Srivastava, Martha J. Somerman, Steven M. Tommasini, Bjorn Busse, Thorsten Schinke, Thomas O. Carpenter, Ralf Oheim, Demetrios T. Braddock
Summary: Biallelic ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) deficiency leads to vascular/soft tissue calcifications and low bone mass, while ENPP1 haploinsufficiency results in early-onset osteoporosis. Both the catalytic and non-catalytic activities of ENPP1 play a role in bone and phosphate metabolism.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Eva Maria Woelfel, Franziska Lademann, Haniyeh Hemmatian, Stephane Blouin, Phaedra Messmer, Lorenz C. Hofbauer, Bjoern Busse, Martina Rauner, Katharina Jaehn-Rickert, Elena Tsourdi
Summary: Hyperthyroidism causes secondary osteoporosis by promoting bone resorption. Osteocytic osteolysis and elevated tartrate-resistant acid phosphatase (TRAP) activity were observed in hyperthyroid mice. The bone microarchitecture and turnover recovered after treatment, but the osteocytic osteolysis effects were not reversed.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Engineering, Biomedical
P. Allahyari, M. Silani, V. Yaghoubi, P. Milovanovic, F. N. Schmidt, B. Busse, M. Qwamizadeh
Summary: This study analyzed the microstructure of cortical bone using two-dimensional finite element models and found that the microstructure of bone tissue is crucial for its fracture behavior. The microstructure components of bone, such as osteons, cement lines, and pores, affect the fracture behavior, with pores reducing the maximum stress required for crack propagation. Additionally, parameters such as cement line structure, mineralization, and areal fraction are important for bone fracture.
JOURNAL OF THE MECHANICAL BEHAVIOR OF BIOMEDICAL MATERIALS
(2023)
Article
Endocrinology & Metabolism
Francesca Tonelli, Laura Leoni, Valentina Daponte, Roberta Gioia, Silvia Cotti, Imke A. K. Fiedler, Daria Larianova, Andy Willaert, Paul J. Coucke, Simona Villani, Bjoern Busse, Roberta Besio, Antonio Rossi, P. Eckhard Witten, Antonella Forlino
Summary: This study used zebrafish to investigate the role of TRIC-B in skeletal tissue. The researchers found that the tmem38b gene is expressed at early developmental stages in zebrafish, while tmem38a gene is not. Mutations in tmem38b resulted in under-modified collagen type I and intracellular retention. These findings contribute to our understanding of the importance of TRIC-B in bone cell differentiation.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Orthopedics
Brian G. Beitler, E. Yu Kristin, Annie Wang, David B. Frumberg, Steven M. Tommasini, Daniel H. Wiznia, Daniel R. Cooperman, Lisa L. Lattanza, John P. Fulkerson
Summary: Three-dimensional modeling and printing are important tools for orthopaedic surgeons, particularly in understanding the biomechanical kinematics of pathologies in the patellofemoral joint. We describe a method for creating 3D printed models of the patellofemoral joint, which can assist surgeons in understanding and planning surgery for recurrent patellar dislocations.
ARTHROSCOPY TECHNIQUES
(2023)
Article
Endocrinology & Metabolism
Carolyn M. Macica, Steven M. Tommasini
Summary: Degenerative osteoarthritis (OA) is a common comorbidity of X-linked hypophosphatemia (XLH), causing pain and stiffness in patients. This study investigates the impact of changes in articular cartilage (AC) on the biomechanical properties of AC in compression and its potential role in the development of OA. The researchers hypothesize that disruption of the mineralized zone of AC affects its mechanical properties, and therapeutic restoration of this zone can improve AC's mechanical properties.
Article
Endocrinology & Metabolism
Leon-Gordian Koepke, Simon von Kroge, Annika Heuer, Anna Lena Kammal, Benjamin Ondruschka, Tim Rolvien, Lennart Viezens
Summary: This study used high-resolution CT scanning to analyze the microarchitecture of the odontoid process of the second cervical vertebra and provided clinical implications for axis fractures. The results showed that the apparent density of the axis was lower in zones II and III compared to zone I, both in clinical CT images and autopsy specimens. These findings suggest a regional heterogeneity of bone microarchitecture that may contribute to the high risk of fracture and osteosynthesis failure in zones II and III.
CALCIFIED TISSUE INTERNATIONAL
(2023)
Article
Endocrinology & Metabolism
Tatyana Danyukova, Assil-Ramin Alimy, Renata Voltolini Velho, Timur A. Yorgan, Giorgia Di Lorenzo, Simon von Kroge, Henning Tidow, J. Simon Wiegert, Irm Hermans-Borgmeyer, Thorsten Schinke, Tim Rolvien, Sandra Pohl
Summary: Missense variants in the MBTPS2 gene are associated with osteogenesis imperfecta. The study shows that MBTPS2 haploinsufficiency leads to early osteoarthritis-like changes, which may precede the development of typical bone dysplasia phenotype.