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
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)
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
Suzanne M. Jan de Beur, Paul D. Miller, Thomas J. Weber, Munro Peacock, Karl Insogna, Rajiv Kumar, Frank Rauch, Diana Luca, Tricia Cimms, Mary Scott Roberts, Javier San Martin, Thomas O. Carpenter
Summary: The study demonstrated that burosumab exhibited an acceptable safety profile in adult patients with TIO and was associated with improvements in phosphate metabolism and osteomalacia.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Review
Endocrinology & Metabolism
John P. Bilezikian, Aliya A. Khan, Shonni J. Silverberg, Ghada El-Hajj Fuleihan, Claudio Marcocci, Salvatore Minisola, Nancy Perrier, Antonio Sitges-Serra, Rajesh Thakker, Gordon Guyatt, Michael Mannstadt, John T. Potts, Bart L. Clarke, Maria Luisa Brandi
Summary: The last international guidelines on the evaluation and management of primary hyperparathyroidism (PHPT) were published in 2014. New research since then has led to new insights in epidemiology, pathophysiology, diagnosis, measurements, genetics, outcomes, presentations, new imaging modalities, target and other organ systems, pregnancy, evaluation, and management. An international group of experts reviewed these advances in knowledge and provided evidence-based recommendations and guidelines for the evaluation and management of PHPT.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
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)
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
Marciana Laster, Michelle Denburg, Yusuke Okuda, Juhi Kumar, Susan Furth, Bradley Warady, Kamyar Kalantar-Zadeh, Keith Norris, Isidro B. Salusky
Summary: The study found racial and ethnic differences in bone markers and fractures among children with chronic kidney disease, with black and Hispanic children having lower odds of fractures compared to white children.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Endocrinology & Metabolism
Aliya A. Khan, John P. Bilezikian, Maria Luisa Brandi, Bart L. Clarke, Neil J. Gittoes, Janice L. Pasieka, Lars Rejnmark, Dolores M. Shoback, John T. Potts, Gordon H. Guyatt, Michael Mannstadt
Summary: This clinical practice guideline provides evidence-based recommendations for the prevention, diagnosis, and management of hypoparathyroidism. Evaluating serum PTH within 12 to 24 hours post total thyroidectomy can predict the development of permanent postsurgical hypoparathyroidism. Genetic testing may be helpful for individuals with nonsurgical hypoparathyroidism.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
John P. Bilezikian, Shonni J. Silverberg, Francisco Bandeira, Filomena Cetani, Manju Chandran, Natalie E. Cusano, Peter R. Ebeling, Anna Maria Formenti, Morten Frost, Jessica Gosnell, E. Michael Lewiecki, Frederick R. Singer, Neil Gittoes, Aliya A. Khan, Claudio Marcocci, Lars Rejnmark, Zhikang Ye, Gordon Guyatt, John T. Potts
Summary: This article summarizes new information on the management of primary hyperparathyroidism, covering aspects such as evaluation, diagnosis, epidemiology, and genetics. Through systematic reviews and narrative reviews, it provides the most comprehensive information available to date.
JOURNAL OF BONE AND MINERAL RESEARCH
(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.
Article
Endocrinology & Metabolism
Takaharu Kimura, Cristina Panaroni, Erinn B. Rankin, Louise E. Purton, Joy Y. Wu
Summary: PTH1R signaling in osteoprogenitors affects multiple maturing hematopoietic cell populations, potentially through regulation of cell adhesion molecules and chemokine expression that impact cell trafficking.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
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
Monica Reyes, Masayo Kagami, Sayaka Kawashima, Johanna Pallotta, Dirk Schnabel, Maki Fukami, Harald Juppner
Summary: Pseudohypoparathyroidism type Ib (PHP1B) is a rare disorder characterized by methylation loss at GNAS exon A/B, leading to resistance to parathyroid hormone. A PHP1B patient was found to have a de novo genomic GNAS duplication of approximately 88 kb, associated with methylation restricted to exon A/B.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Endocrinology & Metabolism
Maximilian M. Delsmann, Richard Seist, Julian Stuerznickel, Felix N. Schmidt, Amer Mansour, Margaret M. Kobelski, Gabriel Broocks, Jonathan Peichl, Ralf Oheim, Mark Praetorius, Thorsten Schinke, Michael Amling, Marie B. Demay, Konstantina M. Stankovic, Tim Rolvien
Summary: X-linked hypophosphatemia (XLH) is a hereditary musculoskeletal disorder caused by mutations in the PHEX gene, leading to renal phosphate wasting and clinical manifestations of rickets, with commonly observed hearing loss. Research on XLH mice shows that conductive hearing loss is mainly due to severe hypomineralization of ossicles, with increased void volume and unmineralized bone.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Review
Endocrinology & Metabolism
Pablo Florenzano, Iris R. Hartley, Macarena Jimenez, Kelly Roszko, Rachel I. Gafni, Michael T. Collins
Summary: Tumor-induced osteomalacia is a rare paraneoplastic syndrome caused by tumoral production of FGF23, characterized by hypophosphatemia, abnormal vitamin D levels, and elevated FGF23. Treatment includes surgical resection, medical therapy, and novel approaches, but locating the tumor can be challenging.
CALCIFIED TISSUE INTERNATIONAL
(2021)
Article
Genetics & Heredity
Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler, Kristen S. Pan, Mary S. Roberts, Douglas R. Rosing, Margaret S. Whelpley, Joy C. Bryant, Ellen F. Macnamara, Sisi Wang, Kerstin Mueller, Iris R. Hartley, Emily Y. Chew, Timothy E. Corden, Christina M. Jacobsen, Ingrid A. Holm, Frank Rutsch, Esra Dikoglu, Marcus Y. Chen, M. Zulf Mughal, Michael A. Levine, Rachel I. Gafni, William A. Gahl
Summary: Generalized arterial calcification of infancy (GACI) is usually caused by deficiency of ENPP1, and the natural history of GACI survivors has not been established. Out of 20 subjects, 16 presented with arterial calcifications, but only 5 had residual involvement at the time of evaluation.
GENETICS IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Nuria Martinez-Gil, Neus Roca-Ayats, Monica Cozar, Natalia Garcia-Giralt, Diana Ovejero, Xavier Nogues, Daniel Grinberg, Susanna Balcells
Summary: This study assessed the functionality of two variants of SOST and investigated the physical interactors of the SOST proximal promoter region in bone cells. Results showed that these variants affected the expression of SOST and had physical contacts with far-reaching genomic sequences.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Bernard Cortet, Elaine Dennison, Adolfo Diez-Perez, Medea Locquet, Maurizio Muratore, Xavier Nogues, Diana Ovejero Crespo, Eugenio Quarta, Maria Luisa Brandi
Summary: The study demonstrates the high diagnostic accuracy of REMS technology for osteoporosis in a European clinical context, with the ability to effectively identify female patients with osteoporosis across different age groups.
Article
Endocrinology & Metabolism
Ahmed Torky, Ninet Sinaii, Smita Jha, Jay Desai, Diala El-Maouche, Ashwini Mallappa, Deborah P. Merke
Summary: Patients with CAH have a higher prevalence of obesity, hypertension, insulin resistance, fasting hyperglycemia, and dyslipidemia during childhood and adulthood compared to the general US population, indicating an early onset of metabolic morbidity in this population. Treatment-related and familial factors play a role in the development of these metabolic conditions.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
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
Endocrinology & Metabolism
Kelly L. Roszko, Tiffany Y. Hu, Lori C. Guthrie, Beth A. Brillante, Michaele Smith, Michael T. Collins, Rachel Gafni
Summary: Patients with hypoparathyroidism experience poor quality of life, including fatigue and brain fog. Treatment with PTH 1-34 had limited and non-sustained effects on improving quality of life, inconclusive changes in fatigue experience, and no change in the 6-minute walk test.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Genetics & Heredity
Natalia Garcia-Giralt, Neus Roca-Ayats, Josep F. Abril, Nuria Martinez-Gil, Diana Ovejero, Santos Castaneda, Xavier Nogues, Daniel Grinberg, Susanna Balcells, Raquel Rabionet
Summary: Atypical femoral fractures (AFF) are rare fragility fractures in the subtrochanteric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. Genetic analysis identified multiple genes, including DAAM2 and LRP5, as being associated with AFF. Gene interaction analysis revealed a complex network among bone-related genes and other mutated genes. Biological function analysis highlighted cytoskeleton and cilium organization as potentially relevant to AFF.
Correction
Endocrinology & Metabolism
Rachel Gafni, Craig B. Langman, Lori C. Guthrie, Beth A. Brillante, Robert James, Nancy A. Yovetich, Alison M. Boyce, Michael T. Collins
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Diana Ovejero, Natalia Garcia-Giralt, Nuria Martinez-Gil, Raquel Rabionet, Susanna Balcells, Daniel Grinberg, Luis Alberto Perez-Jurado, Xavier Nogues, Inigo-Etxebarria Foronda
Summary: This study reports a previously unreported familial skeletal dysplasia characterized by high bone mass and lucent bone lesions. Through clinical and genetic investigations, five rare pathogenic variants associated with bone metabolism were identified. These findings are important for understanding the molecular mechanisms underlying skeletal development and mineral metabolism.
Article
Endocrinology & Metabolism
Maria Jose Montoya-Garcia, Cristina Carbonell-Abella, Jose Manuel Cancio-Trujillo, Maria Jesus Moro-Alvarez, Jesus Mora-Fernandez, Rafael Izquierdo-Avino, Xavier Nogues, Manuel Mesa-Ramos, Rosa Maria San Segundo-Mozo, Elena Calero-Munoz, Manuel Naves-Diaz, F. Jesus Olmo-Montes, Enric Duaso
Summary: REFRA-FLS is a new registry in Spain aimed at identifying individuals over 50 years old with a fragility fracture. The study found that hip fracture is the most prevalent type of fracture, with a treatment rate of 87.7% and adherence rate of 65.3%. The results provide a comprehensive picture of fragility fractures identified by FLS units in Spain.
ARCHIVES OF OSTEOPOROSIS
(2022)
Article
Medicine, Research & Experimental
Diana Ovejero, Zachary Michel, Christophe Cataisson, Amanda Saikali, Rebeca Galisteo, Stuart H. Yuspa, Michael T. Collins, Luis F. de Castro
Summary: Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a disorder characterized by dysplastic skeletal lesions, congenital skin nevi, and FGF23-mediated hypophosphatemia. This study found that RAS-mutated dysplastic bone, not skin, is the primary source of excess FGF23 in CSHS patients. These findings have implications for the treatment of CSHS patients and argue against the removal of skin lesions to decrease FGF23 levels.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Nuria Martinez-Gil, Diana Ovejero, Natalia Garcia-Giralt, Carlos David Bruque, Leonardo Mellibovsky, Xavier Nogues, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Summary: This study investigates the genetics of high bone mineral density (BMD) in a family and identifies VAV3 and ADGRE5 as potential candidate genes with potential therapeutic targets for osteoporosis.
Article
Endocrinology & Metabolism
Alisa E. Lee, Emily Y. Chu, Pamela J. Gardner, Olivier Duverger, Amanda Saikali, Sean K. Wang, Rachel Gafni, Iris R. Hartley, Kelly G. Ten Hagen, Martha J. Somerman, Michael T. Collins
Summary: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare genetic disorder characterized by high blood phosphate levels and dental abnormalities. This study found a correlation between the severity of dental phenotype in HFTC patients and root and pulp structures, possibly related to phosphate and FGF23 deficiency.