Article
Endocrinology & Metabolism
Pamela Rufus-Membere, Kara L. Holloway-Kew, Adolfo Diez-Perez, Natasha M. Appelman-Dijkstra, Mary L. Bouxsein, Erik F. Eriksen, Joshua N. Farr, Sundeep Khosla, Mark A. Kotowicz, Xavier Nogues, Mishaela Rubin, Julie A. Pasco
Summary: Impact microindentation (IMI) is a novel technique for assessing bone material strength index (BMSi) in vivo. The aim of this study was to define the reference intervals for men and women by evaluating healthy adults from multiple countries. BMSi values ranged from 48 to 101, with mean values of 84.4 +/- 6.9 for men and 79.0 +/- 9.1 for women.
CALCIFIED TISSUE INTERNATIONAL
(2023)
Article
Biochemistry & Molecular Biology
Diana Jedrzejuk, Pawel Poznanski, Pawel Szewczyk, Oktawia Mazanowska, Marek Bolanowski, Magdalena Krajewska, Dorota Kaminska
Summary: The popularity of living-donor organ donation has increased recently due to the growing need for organs and a shortage of deceased-donor organs. This procedure requires a comprehensive health assessment of candidates, who must be in good physical and mental health. We present a case of a potential living-kidney donor who was withdrawn from donation due to Paget's disease of bone, and various imaging and assessment techniques were used to thoroughly evaluate the affected vertebra.
Article
Cell Biology
Ilhame Diboun, Sachin Wani, Stuart H. Ralston, Omar M. E. Albagha
Summary: This study investigated the association between DNA methylation signals and the severity of Paget's disease of bone (PDB). The results showed that there were 100 CpG methylation sites significantly associated with PDB severity. Additionally, methylation profiles in 11 regions were found to be significantly associated with disease severity. A multivariate predictor model featuring the top severity-associated CpG sites revealed a significant correlation between observed and predicted PDB severity scores.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Chemistry, Physical
Miroslav Slouf, Milos Steinhart, Pavel Nemecek, Veronika Gajdosova, Jiri Hodan
Summary: We compared microscale indentation creep measurements with macroscale tensile creep measurements of three common polymers and found that microcreep experiments could qualitatively predict the long-term macrocreep behavior of the polymers. The empirical power law model yielded better predictions than the elasto-visco-plastic models.
Article
Rheumatology
Michael J. Cook, Stephen R. Pye, Mark Lunt, William G. Dixon, Darren M. Ashcroft, Terence W. O'Neill
Summary: The incidence of clinically diagnosed Paget's disease in the UK has declined from 1999 to 2015, with higher rates in men than women and increasing with age. Individuals in the most deprived quintile had a 30% higher incidence compared to the least deprived quintile. There was geographic variation with the highest incidence in the North West of England.
Article
Materials Science, Coatings & Films
S. Lu, F. Roudet, A. Montagne, T. Coorevits, G. Guilbert, A. Mouftiez, D. Betrancourt, D. Chicot
Summary: This study investigates the possible replacement of Cr-VI coating with NiW coating and analyzes the influence of tip defect and indentation size effect on hardness measurement. The results indicate that the apparent indentation size effect on the Cr-VI coating is mainly caused by the tip defect, while the hardness of the steel substrate is affected by strain hardening generated by surface preparation.
SURFACE & COATINGS TECHNOLOGY
(2022)
Review
Cell Biology
Luigi Gennari, Domenico Rendina, Daniela Merlotti, Guido Cavati, Christian Mingiano, Roberta Cosso, Maria Materozzi, Filippo Pirrotta, Veronica Abate, Marco Calabrese, Alberto Falchetti
Summary: Studies have revealed major advances in the pathogenesis of Paget's disease of bone (PDB) over the past two decades, particularly in understanding the role of genetic factors. Various germline mutations in different genes have been identified as possible causes of PDB, with most of these genes involved in regulating osteoclast differentiation and function. This review summarizes the most important advances made in the cellular and molecular biology of PDB in recent years.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Orthopedics
Noortje Visser, Elisa Rezaie, Alexandra Ducharme, Alexander Y. Shin, Allen T. Bishop
Summary: This study evaluated the effect of surgical angiogenesis on the mechanical properties of cryopreserved structural bone allografts. The results showed that surgical angiogenesis did not have a negative impact on the biomechanical properties of the bone grafts.
JOURNAL OF ORTHOPAEDIC RESEARCH
(2023)
Article
Endocrinology & Metabolism
Erika Bastos Lima Freire, Mayara Ponte Madeira, Grayce Ellen da Cruz Paiva Lima, Virginia Oliveira Fernandes, Lindenberg Barbosa Aguiar, Joao Paulo Uchoa Fontenele, Ana Paula Dias Rangel Montenegro, Thyciara Fontenele Marques, Renan Galvao Ozorio, Catarina Brasil D'Alva, Renan Magalhaes Montenegro Jr
Summary: Paget's disease of bone and Congenital generalized lipodystrophy can be difficult to differentiate radiologically due to similar bone lesions but different clinical presentations. Early recognition of CGL is crucial for preventing clinical complications and premature death.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Manuela Schoeb, Elizabeth M. Winter, Maria A. Sleddering, Mirjam A. Lips, Abbey Schepers, Marieke Snel, Natasha M. Appelman-Dijkstra
Summary: The study showed that bone material properties are altered in patients with primary hyperparathyroidism (PHPT), especially in those with prevalent fractures. Impact microindentation (IMI) may be a valuable additional tool for assessing bone fragility in PHPT patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Medicine, General & Internal
Hisaki Aiba, Tomoharu Nakazato, Hideo Matsuo, Hiroaki Kimura, Shiro Saito, Takao Sakai, Hideki Murakami, Jun Kawai, Shingo Kawasaki, Yasuhiro Imamura
Summary: Systemic osteosclerotic lesions are rare complications of gastric cancer, typically caused by multiple bone metastases or systemic metabolic disorders. This case report describes a rare case of gastric cancer recurrence presenting with mixed osteoblastic and osteolytic bone lesions resembling Paget's disease. Accurate diagnosis was achieved through bone biopsy.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Xiaohui Tao, Li Liu, Xingguang Yang, Zhe Wei, Zhongzhong Chen, Ge Zhang, Zhenlin Zhang, Hua Yue
Summary: This study evaluated the clinical features of sporadic Paget's disease of bone (PDB) in China and identified potential genetic abnormalities. The results showed that Chinese patients have an earlier onset age, more severe symptoms, and a lower frequency of SQSTM1 gene mutation compared to Western patients. Additionally, potential pathogenic genes and pathways related to neurodegeneration and ALS were identified.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medicine, General & Internal
Xin-Yu Miao, Xian-Ling Wang, Zhao-Hui Lyu, Jian-Ming Ba, Yu Pei, Jing-Tao Dou, Wei-Jun Gu, Jin Du, Qing-Hua Guo, Kang Chen, Yi-Ming Mu
Summary: Paget's disease of bone is a rare metabolic bone disease characterized by increased bone resorption and disorganized bone formation. Patients typically present with bone pain and deformities, and elevated serum alkaline phosphatase levels along with typical imaging and pathological findings can aid in early diagnosis and effective treatment.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Biochemistry & Molecular Biology
Yuki Nagata, Kazuaki Miyagawa, Yasuhisa Ohata, Daniela N. Petrusca, Gabriel M. Pagnotti, Khalid S. Mohammad, Theresa A. Guise, Jolene J. Windle, G. David Roodman, Noriyoshi Kurihara
Summary: Research has shown that Paget's disease patients' osteoclasts express elevated levels of MVNP and SphK-1, and IL-6 is identified as a factor influencing SphK-1 production, ultimately leading to abnormal bone formation.
JOURNAL OF CELLULAR BIOCHEMISTRY
(2021)
Review
Genetics & Heredity
Babajan Banaganapalli, Ibrahim Fallatah, Fai Alsubhi, Preetha Jayasheela Shetty, Zuhier Awan, Ramu Elango, Noor Ahmad Shaik
Summary: Paget's disease of bone is a common metabolic bone disorder characterized by accelerated and excessive bone production and turnover. It primarily affects older individuals, particularly men, and has a complex genetic basis involving multiple genes. Environmental factors may also play a role in the development of the disease.
FRONTIERS IN GENETICS
(2023)
Correction
Surgery
Ezra Y. Koh, Willemijn Y. van der Plas, Roderick R. Dulfer, Robert A. Pol, Schelto Kruijff, Joris I. Rotmans, Natasha Appelman-Dijkstra, Abbey Schepers, Martin H. de Borst, Ewout J. Hoorn, Tessa M. van Ginhoven, Els J. M. Nieveen van Dijkum, Liffert Vogt, Anton F. Engelsman
LANGENBECKS ARCHIVES OF SURGERY
(2022)
Article
Medicine, General & Internal
Ashna I. E. Ramautar, Cornelie D. Andela, Neveen A. T. Hamdy, Elizabeth M. Winter, Natasha M. Appelman-Dijkstra
Summary: This study evaluated the impact of sternocostoclavicular hyperostosis (SCCH), the main clinical manifestation of chronic non-bacterial osteomyelitis (CNO) in adults, on quality of life (QoL) and identified its determinants. The study found that patients with CNO/SCCH demonstrated significant impairments in multiple aspects of QoL, maladaptive illness perceptions, and ineffective coping strategies. Higher pain scores and limited shoulder function were identified as determinants for impaired QoL in patients with a >5-year delay in diagnosis. The study suggests that shortening delay in diagnosis, effective pain management, and psychosocial interventions targeting these factors can help minimize the negative impact of CNO/SCCH on QoL.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biotechnology & Applied Microbiology
Piet Geusens, Natasha Appelman-Dijkstra, Willem Lems, Joop van den Bergh
Summary: Romosozumab is a novel osteoanabolic drug that targets sclerostin and has shown to be superior to antiresorptive agents in increasing bone mineral density, repairing bone microarchitecture, and reducing fracture risk.
EXPERT OPINION ON BIOLOGICAL THERAPY
(2023)
Article
Endocrinology & Metabolism
Natasha M. Appelman-Dijkstra, Stefan Pilz
Summary: Taking care of pregnant patients with parathyroid disorders requires consideration of changes in bone and mineral metabolism. The diagnostic and therapeutic approaches differ from the nonpregnant population. Parathyroidectomy is recommended for primary hyperparathyroidism before pregnancy to reduce complications. Conservative treatment and active surveillance are recommended for hypoparathyroidism. Postpartum monitoring is necessary, as there is an increased risk of hypercalcemia.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Hanna F. Nowotny, Jillian Bryce, Salma R. Ali, Roberta Giordano, Federico Baronio, Irina Chifu, Lea Tschaidse, Martine Cools, Erica L. T. van den Akker, Henrik Falhammar, Natasha M. Appelman-Dijkstra, Luca Persani, Guglielmo Beccuti, Ian L. Ross, Simona Grozinsky-Glasberg, Alberto M. Pereira, Eystein S. Husebye, Stefanie Hahner, S. Faisal Ahmed, Nicole Reisch
Summary: This study is the first to collect data on the outcome of COVID-19 infection in patients with adrenal gland disorders, suggesting good clinical outcomes with appropriate dose adjustments and emphasizing the importance of patient education on sick day rules.
ENDOCRINE CONNECTIONS
(2023)
Article
Endocrinology & Metabolism
Maartje E. Meier, Natasha M. Appelman-Dijkstra, Michael T. Collins, Raya E. S. Geels, Robert P. Stanton, Pieter Bas de Witte, Alison M. Boyce, Michiel A. J. van de Sande
Summary: This study aimed to evaluate the prevalence of and risk factors for coxa vara deformity in patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS). The prevalence of FD/MAS coxa vara deformity in tertiary care centers was 36%. Risk factors included presence of MAS, high percentage of femur affected, calcar destruction, radiolucency, NSA <120 degrees, and age <15 years.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Endocrinology & Metabolism
Wei Zhou, Jeroen G. J. van Rooij, Denise M. van de Laarschot, Zografia Zervou, Hennie Bruggenwirth, Natasha M. Appelman-Dijkstra, Peter R. Ebeling, Serwet Demirdas, Annemieke J. M. H. Verkerk, M. Carola Zillikens
Summary: A study in the Netherlands found that atypical femur fractures (AFFs) can occur in patients with monogenic bone disorders, even without bisphosphonate use. The study revealed that approximately 25% of AFF patients had clinical features of monogenic bone disorders, including osteogenesis imperfecta and hypophosphatasia. These findings highlight the importance of careful clinical evaluation in AFF patients.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Genetics & Heredity
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Ines Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axel Gregersen, Encarna Guillen-Navarro, Wolfgang Hoegler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving
Summary: Establishing a prospective, standardized registry for collecting real-world evidence on achondroplasia is important for improving understanding of the natural history, quality of life, and outcomes of this rare condition. Data elements include auxological measures, sleep studies, quality of life, and neurological manifestations. The registry will provide valuable information for clinical decision-making and management.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Genetics & Heredity
A. T. Leerling, G. Clunie, E. Koutrouba, O. M. Dekkers, N. M. Appelman-Dijkstra, E. M. Winter
Summary: This study aimed to explore the diagnostic and therapeutic practices for chronic nonbacterial osteomyelitis (CNO) in adults. The results showed that adult CNO is a broad and insufficiently characterized disease spectrum, with MRI being the preferred imaging diagnostic method. Treatment strategies vary significantly, but pamidronate and anti-TNF-α are regarded as the most effective treatments.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Endocrinology & Metabolism
Anne T. Leerling, Elisabeth H. Andeweg, Juliette Faber, Trea C. M. Streefland, Olaf M. Dekkers, Natasha M. Appelman-Dijkstra, Elizabeth M. Winter
Summary: Immunological characterization of adult CNO showed that systemic inflammation is generally present in patients, especially in those with vertebral involvement, associated skin disease, and increased uptake on nuclear imaging. In contrast to pediatric studies, there was no increased expression of pro-inflammatory cytokines, and further research is needed to evaluate the use of systemic immune inflammation index (SII) in diagnosis and monitoring of CNO, as well as the role of cytokine dysregulation in adult disease.
Article
Endocrinology & Metabolism
Manuela Schoeb, Telli M. Avci, Elizabeth M. Winter, Natasha M. Appelman-Dijkstra
Summary: Impact microindentation (IMI) is a technique to assess bone material properties of the cortical bone at the tibia in a transcutaneous, microinvasive, way. IMI is increasingly used in studies evaluating the contribution of tissue material properties to bone fragility in humans, and is approved for use in the clinic in Europe and the United States.
Article
Endocrinology & Metabolism
Pamela Rufus-Membere, Kara L. Holloway-Kew, Adolfo Diez-Perez, Natasha M. Appelman-Dijkstra, Mary L. Bouxsein, Erik F. Eriksen, Joshua N. Farr, Sundeep Khosla, Mark A. Kotowicz, Xavier Nogues, Mishaela Rubin, Julie A. Pasco
Summary: Impact microindentation (IMI) is a novel technique for assessing bone material strength index (BMSi) in vivo. The aim of this study was to define the reference intervals for men and women by evaluating healthy adults from multiple countries. BMSi values ranged from 48 to 101, with mean values of 84.4 +/- 6.9 for men and 79.0 +/- 9.1 for women.
CALCIFIED TISSUE INTERNATIONAL
(2023)
Meeting Abstract
Endocrinology & Metabolism
Anne Leerling, Olaf Dekkers, Natasha Appelman-Dijkstra, Elizabeth Winter
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Meeting Abstract
Endocrinology & Metabolism
Ana Luisa Priego Zurita, Salma R. Ali, Jillian Bryce, Martine Cools, Thomas Danne, Olaf M. Dekkers, Olaf Hiort, Harshini Katugampola, Agnes Linglart, Irene Netchine, Anna Nordenstrom, Attila Patocs, Alberto M. Pereira, Luca Persani, Nicole Reisch, Arlene Smyth, Zdenek Sumnik, Domenica Taruscio, W. Edward Visser, Natasha M. Appelman-Dijkstra, S. Faisal Ahmed
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Ana Luisa Priego Zurita, Jillian Bryce, Ines Alves, Manila Boarini, Corinna Grasemann, Wolfgang Hoegler, M. Kassim Javaid, Agnes Linglart, Klaus Mohnike, Marina Mordenti, Geert Mortier, Marco Roos, Luca Sangiorgi, Rebecca Skarberg, Ondrej Soucek, S. Faisal Ahmed, Natasha M. Appelman-Dijkstra
HORMONE RESEARCH IN PAEDIATRICS
(2022)