8,413 results on '"Bone diseases"'
Search Results
2. [Radiological aspects of hemophilic osteoarthropathy].
- Author
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PORTA E and JANNELLI E
- Subjects
- Humans, Bone Diseases, Hemophilia A complications, Joint Diseases, Medicine
- Published
- 1958
Catalog
3. [The present relationship of osteopathy and scientific medicine].
- Author
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POLLOCK W
- Subjects
- Humans, Bone Diseases, Medicine, Osteopathic Medicine, Science
- Published
- 1962
4. Medicine and osteopathy.
- Author
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SWANBERG H
- Subjects
- Humans, Bone Diseases, Medicine, Osteopathic Medicine, Physicians
- Published
- 1952
5. [Chemical studies on bones of cuttle fish used in restorative therapeutics of the bone in Vietnamese medicine].
- Author
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HATEM S
- Subjects
- Animals, Humans, Bone Diseases, Bone and Bones, Decapodiformes, Fishes, Medicine, Tissue Extracts therapeutic use
- Published
- 1954
6. [OSTEOPATHY IN HEMOPHILIA].
- Author
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BERTINI S and DALMONTE A
- Subjects
- Child, Humans, Bone Diseases, Hemophilia A, Medicine, Osteopathic Medicine
- Published
- 1965
7. [Hemophilic osteoarthropathy].
- Author
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DUBOIS JL
- Subjects
- Humans, Bone Diseases, Hemophilia A complications, Joint Diseases, Medicine, Sex Chromosome Disorders
- Published
- 1960
8. A case of exostosing dysplasia.
- Author
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CHANAL G
- Subjects
- Humans, Bone Diseases, Medicine
- Published
- 1947
9. [FERNAND LAYANI (1896-1964)].
- Author
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ASCHKENASY A
- Subjects
- History, 19th Century, History, 20th Century, Bone Diseases, Joint Diseases, Medicine, Rheumatic Diseases
- Published
- 1964
10. Acceptance of osteopathic heritage means beginning of a greater service; medicine as a service will not be limited by persons activated primarily by devotion to strict organization.
- Author
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KEESECKER RP
- Subjects
- Humans, Bone Diseases, Medicine, Organizations, Osteopathic Medicine
- Published
- 1952
11. [Contribution to recalcification therapy in infantile medicine].
- Author
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TALAVERA R
- Subjects
- Child, Infant, Bone Diseases, Calcium metabolism, Medicine, Nutrition Disorders, Organotherapy, Water-Electrolyte Balance
- Published
- 1962
12. Osteopathy's contribution to medicine.
- Author
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NORTHUP TL
- Subjects
- Bone Diseases, Medicine, Osteopathic Medicine
- Published
- 1962
13. [ON SOME RADIOGRAPHIC PICTURES OF BONE LESIONS IN HEMOPHILIA].
- Author
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GIANNANDREA G
- Subjects
- Humans, Bone Diseases, Cartilage Diseases, Hemophilia A, Medicine, Radiography
- Published
- 1964
14. [Belgian Society for Rheumatology. Membership list].
- Subjects
- Belgium, Bone Diseases, Humans, Joint Diseases, Muscular Diseases, Directories as Topic, Medicine, Rheumatic Diseases, Societies, Medical, Specialization
- Published
- 1974
15. Subperiosteal haemorrhage in haemophilia A and B.
- Author
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van CREVELD and KINGMA MJ
- Subjects
- Humans, Bone Diseases, Disease, Heel, Hemophilia A complications, Hemorrhage, Medicine
- Published
- 1961
- Full Text
- View/download PDF
16. Effects of coagulation factors on bone cells and consequences of their absence in haemophilia a patients
- Author
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Giulia Battafarano, Stefano Lancellotti, Monica Sacco, Michela Rossi, Sara Terreri, Jacopo Di Gregorio, Laura Di Giuseppe, Matteo D’Agostini, Ottavia Porzio, Leonardo Di Gennaro, Maira Tardugno, Simone Pelle, Salvatore Minisola, Renato Maria Toniolo, Matteo Luciani, Andrea Del Fattore, and Raimondo De Cristofaro more...
- Subjects
Bone diseases ,Coagulation factors ,Haemophilia A ,Inherited coagulation disorders ,Rare disease ,Medicine ,Science - Abstract
Abstract Haemophilia is associated with reduced bone mass and mineral density. Due to the rarity of the disease and the heterogeneity among the studies, the pathogenesis of bone loss is still under investigation. We studied the effects of coagulation factors on bone cells and characterized in a pilot study the osteoclastogenic potential of patients’ osteoclast precursors. To evaluate the effect of coagulation factors on osteoclasts, we treated Healthy Donor-Peripheral Blood Mononuclear Cells (HD-PBMC) with Factor VIII (FVIII), von Willebrand Factor (VWF), FVIII/VWF complex, activated Factor IX (FIXa), activated Factor X (FXa) and Thrombin (THB). FVIII, VWF, FVIII/VWF, FXa and THB treatments reduced osteoclast differentiation of HD-PBMC and VWF affected also bone resorption. Interestingly, PBMC isolated from patients with moderate/severe haemophilia showed an increased osteoclastogenic potential due to the alteration of osteoclast precursors. Moreover, increased expression of genes involved in osteoclast differentiation/activity was revealed in osteoclasts of an adult patient with moderate haemophilia. Control osteoblasts treated with the coagulation factors showed that FVIII and VWF reduced ALP positivity; the opposite effect was observed following THB treatment. Moreover, FVIII, VWF and FVIII/VWF reduced mineralization ability. These results could be important to understand how coagulation factors deficiency influences bone remodeling activity in haemophilia. more...
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- 2024
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17. Association between Serum Vitamin B12 Level and Bone Mineral Density in Older Women
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Nasrin Navaeifar, Ali Tabriz, and Mehrdad Motalebizadeh
- Subjects
Bone Density ,Bone Diseases ,Osteoporosis ,Vitamin B12 ,Medicine - Abstract
Background: Vitamin B12 is a micronutrient essential for deoxyribonucleic acid (DNA) synthesis, which can affect osteogenesis. Based on in-vivo investigations, vitamin B12 is associated with osteogenesis, and low levels of this vital vitamin in the human body can be related to an increased risk of osteoporosis. Methods: In this descriptive-analytical study, 60 women over 65 years who visited an orthopedic clinic were included. They were divided into three groups based on bone density in the hip and lumbar areas using dual-energy X-ray absorptiometry (DEXA) scans, including normal bone density, osteopenia, and osteoporosis. The average serum level of vitamin B12 in the experimental subjects was then determined and compared. Results: 6 (10%) showed normal bone density, 25 (41.7%) osteopenia, and 29 (48.3%) were considered to have osteoporosis. Measured vitamin B12 levels showed no statistically significant difference between the two groups of normal bone density (601.3 ± 194.8) and osteopenia (560.4 ± 131.5). However, there was a significant statistical difference between vitamin B12 levels in people with osteoporosis (400.7 ± 162.4) and the two groups of normal and osteopenic individuals. There was also a negative statistical relationship between vitamin B12 levels and bone density (P = 0.004, r = -0.8). Conclusion: A low serum level of vitamin B12 is associated with a severe decline in bone density in elderly Iranian women. more...
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- 2022
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18. Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic
- Author
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E. Brizola, G. Adami, G. I. Baroncelli, M. F. Bedeschi, P. Berardi, S. Boero, M. L. Brandi, L. Casareto, E. Castagnola, P. Fraschini, D. Gatti, S. Giannini, M. V. Gonfiantini, V. Landoni, A. Magrelli, G. Mantovani, M. B. Michelis, L. A. Nasto, L. Panzeri, E. Pianigiani, A. Scopinaro, L. Trespidi, A. Vianello, G. Zampino, and L. Sangiorgi more...
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2019-nCoV ,Bone diseases ,Care ,Coronavirus ,COVID-19 ,ERN ,Medicine - Abstract
Abstract During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the “COVID-19 Helpline for Rare Bone Diseases” in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the “COVID-19 Helpline for Rare Bone Diseases” launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients’ care. more...
- Published
- 2020
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19. Osteogenesis imperfecta and cerebrospinal fluid leak: a unique presentation and treatment challenge
- Author
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Clara Mota Randal Pompeu, Anna Caroline Rodrigues de Souza Matos, Mirian Mota Randal Pompeu, Luis Fernando Falcão de Castro Meireles, Daniel Aguiar Dias, and Erika Ferreira Gomes
- Subjects
osteogenesis imperfecta ,cerebrospinal fluid ,hydrocephalus ,bone diseases ,Medicine ,Medicine (General) ,R5-920 - Abstract
Introduction: Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue that mainly manifests as bone fragility. Other signs and symptoms may be present, such as sensorineural hearing loss, cardiac malformations, and teeth alterations. Case description: 72-year-old female patient presented with left abundant spontaneous hyaline rhinorrhea, history of several bone fractures since early childhood, and a blue grayish sclera was noted. Cerebrospinal fluid (CSF) leak was diagnosed. Neuroimaging revealed lowering of the sella turcica floor, platybasia, basilar impression, left middle fossa calcified meningioma, syringobulbia, ventricular dilatation, and left ethmoidal fistula. Due to the patient’s age and clinical status, a medical approach was chosen, and treatment with acetazolamide and furosemide in low dosages, which resulted in a decrease of the rhinorrhea. Discussion: Clinical features and imaging study are often sufficient for diagnosis of OI. The neurological and cranial features in OI are varied. CSF leak is not commonly reported and might have been a consequence of bone softening and hydrocephalus. Conclusions: This case represents a treatment challenge, as the surgical results were uncertain, once bone fragility could result in the development of new leaks. Clinical treatment was chosen and resulted in a significant improvement of the symptoms. more...
- Published
- 2019
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20. Changes in bone density measured by ultrasound of calcaneus in sedentary workers
- Author
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Jasmina Bišćević-Tokić, Sanja Brekalo-Lazarević, Nedim Tokić, Sabina Bećirović, and Selvedina Sarajlić Spahić
- Subjects
bone diseases ,occupational health ,osteopenia ,Medicine - Abstract
Aim To determine a degree of change in the bones of workers who spend their full time job in sitting position and to find a correlation between smoking and changes in bone structure. Methods Examinees were 213 female workers who worked full time sedentary work in front of computer. Each worker was subjected to physical examination and ultrasonic osteodensitometry of calcaneus. Results The average age of patients was 45.4 years. Changes in bone density were found in 110 (51.64%) workers. Correlation between smoker and non-smoker groups was positive, but “r“ was higher in smokers than in non-smokers. It is worrying that 10 out of 22 persons in the group up to 30 years of age have osteopenia. Conclusion Recommendation for regular annual control of bone density of the working group at risk regardless of age should be followed. Prescribing exercise for the working group at risk should be a significant part of preventive work in clinics of occupational medicine and sports. more...
- Published
- 2019
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21. The role of cytokines and the suppressors of cytokine signalling (SOCS) in human osteoblastic cell survival and bone remodelling
- Author
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Steddon, Simon John
- Subjects
612.41 ,Medicine ,Bone diseases - Abstract
A number of growth factors and cytokines involved in the local regulation of bone remodelling are either synthesised by osteoblasts or have osteoblasts as their target. These include the RANK-L/OPG system, the gp130 cytokine family, including IL-6, and insulin like growth factors. In addition, aberrant cytokine signalling is strongly linked with pathological states characterised by increased bone resorption, including osteoporosis and renal osteodystrophy. The range of action and potency of these osteotropic cytokines requires that their actions are tightly regulated. Amongst such potential control mechanisms are the suppressors of cytokine signalling (SOCS), the presence and role of which in bone has not been studied in detail. The aim of this thesis was (i) to examine the direct effect of uraemia on cytokine release in human osteoblastic cells; (ii) to determine if the regulatory SOCS genes are expressed in these cells and, if so, (iii) to characterise their functional significance. In initial studies, osteoblastic cells were cultured in media containing sera from either healthy volunteers or haemodialysis treated chronic kidney disease patients. Concentrations of OPG and IL-6 were then measured in harvested supernatants. Additionally, individual serum samples collected prior to, and during, a haemodialysis (HD) session were assayed for IL-6, IL-1β and soluble IL-6 receptor (sIL-6R). HD patients had significantly higher concentrations of IL-6 than normal subjects, but there were no significant differences in either IL-1β or sIL-6R. These concentrations did not change significantly during HD. There were no differences in OPG production by osteoblastic cells after exposure to either normal or uraemic serum. Incubation with untreated sera from normal subjects increased IL-6 production by ~6-fold above control, whereas sera from uraemic subjects increased it only ~2-3-fold. HD did not restore the capacity of uraemic serum to augment IL-6 release to the same degree as normal serum. Further work examined a variety of osteotropic stimuli for their ability to induce SOCS1- 3 and CIS expression in human osteoblastic cells. The utility of both conventional RTPCR and fluorescence-based kinetic real time PCR for this purpose are compared. These SOCS were found to be expressed constitutively and could be induced to a variable degree by relevant growth factors. In general, the temporal pattern of SOCS expression was consistent with a negative feedback function. Potential functionality was explored following transfection with SOCS1 and SOCS3 plasmid DNA. Significantly enhanced IL-6 secretion was found in both the basal and stimulated state, whilst OPG production was enhanced only in the latter. Function was also studied in the context of osteoblastic apoptosis, the regulation of which is highly relevant to skeletal disease. Initial experiments developed a framework for subsequent studies: serum starvation for 24h produced reproducible cell death that could be attenuated in a dose dependent manner by IGF-I. SOCS1 and SOCS3 overexpression had limited influence on osteoblast survival, whereas gene knock down experiments using siRNA indicated that IL-1β-induced cell death is mediated differentially, depending on the type of cell death involved. SOCS1 and SOCS3 are involved in the apoptotic cascade, while IL-1β-induced necrosis appears to be independent of SOCS3. Collectively these studies demonstrate that the augmentation of IL-6 production by osteoblastic cells after exposure to normal serum is greater than after uraemic serum. HD does not correct this disparity; perhaps indicating a non-dialysable inhibitor of IL-6 release is involved in the dysregulated bone turnover of uraemic patients. Further work establishes the constitutive presence of the SOCS family in human osteoblastic cells, as well as their transient inducibility by key osteotropic stimuli. Several novel aspects of SOCS function, including influence on IL-6 and OPG production and involvement within apoptotic pathways are demonstrated. more...
- Published
- 2012
22. Use of Recombinant Human Parathyroid Hormone to Treat Hungry Bone Syndrome in Hemodialysis Patient
- Author
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Chaaban Ahmed, Fatima Kendi, Nicole Gebran, Clarisse Barcebal, Khalid Dahmani, Ali El Houni, and Mohammad Budruddin
- Subjects
parathyroidectomy ,hypocalcemia ,teriparatide ,vitamin d ,hyperparathyroidism ,secondary ,parathyroid hormone ,kidney failure ,chronic ,renal dialysis ,bone diseases ,lupus erythematosus ,systemic ,Medicine - Abstract
We report the case of a 35-year-old female with end-stage renal disease on hemodialysis for nine years. She was diagnosed with secondary hyperparathyroidism complicated with a brown tumor in the mandible. After medical therapy failed, she underwent total parathyroidectomy (PTX), which was complicated by severe and prolonged hypocalcemia (hungry bone syndrome). Post-surgery, she required prolonged and frequent intravenous calcium and a high dose of vitamin D resulting in frequent admission with symptomatic hypocalcemia. Her serum magnesium was noted to be in the normal range. She continued to be hypocalcemic for nearly eight months post-surgery despite the intensive treatment. Recombinant human parathyroid hormone (teriparatide) 20 mg daily resulted in normalization of calcium within two weeks. The use of parathyroid hormone proved to be an effective treatment approach in this case. Proper pre-operative preparation and subtotal PTX with an adequate dose of vitamin D and calcium supplement may have been a rational option for this case. more...
- Published
- 2020
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23. Osteopoıkılosıs at Hand And Foot Fıngers: Case Report
- Author
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Rıdvan Altay, Seçkin Özcan, and İsmet Yalkın Çamurcu
- Subjects
osteopoikilosis ,genetics ,bone diseases ,finger phalangaes ,toe phalangaes ,osteopoikiloz ,genetik ,kemik hastalıkları ,el parmakları ,Medicine - Abstract
Osteopoikilosis is a rare and genetical benign bone disease which is not well defined in terms of its phenotypic characteristics. In literature, it is generally stated that it holds large and medium bone metaphyses and phenotypic features are not mentioned. We will also notice that our patients can also retain small bone metaphyses and have typical phenotypic features. more...
- Published
- 2018
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24. Clinical Implication of Sarcopenia in Patients with Inflammatory Bowel Disease
- Author
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Seong-Eun Kim
- Subjects
Inflammatory bowel disease ,Sarcopenia ,Body composition ,Obesity ,Bone diseases ,metabolic ,Medicine - Abstract
Recent studies have shown that inflammatory bowel disease (IBD) patients are affected by altered body composition, especially low muscle mass or sarcopenia. Detection of sarcopenia is important, as it can independently predict osteopenia, sarcopenic obesity, and poor disease outcomes during IBD progress. The challenges are needed to identify diagnostic and managing strategies for sarcopenia in IBD to improve disease outcomes and increase the quality of life in patients with IBD. more...
- Published
- 2018
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25. Challenges and operative strategy in an unusual case of giant mastoid osteoma
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Asmita Madhavi, Hetal Marfatia, Kp Ashwathy, and Pankaj Goyal
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Adult ,medicine.medical_specialty ,Case Report ,Mastoid ,Lesion ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Throat ,otorhinolaryngologic diseases ,medicine ,Deformity ,Outpatient clinic ,Humans ,030223 otorhinolaryngology ,Osteoma ,Nose ,Unusual case ,business.industry ,Temporal Bone ,General Medicine ,medicine.disease ,Surgery ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Histopathology ,Female ,medicine.symptom ,Bone Diseases ,business ,Neck - Abstract
A 19-year-old female patient presented to the outpatient department of ear, nose and throat with complaints of hard swelling behind her left ear for the past 5 years. It was a large bony swelling arising from the left temporal bone causing a cosmetic deformity that was surgically excised. The patient made a good recovery post procedure. Histopathology confirmed the lesion to be osteoma. more...
- Published
- 2023
26. Radioisotopic assessment of bone metabolism of the operated vertebra after inter-process stabilizer implantation in the lumbar segment of the spine
- Author
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Maciej Radek, Andrzej Radek, Jacek Rysz, Zbigniew Maziarz, Mariusz Gadzicki, and Wiesław Tryniszewski
- Subjects
bone diseases ,lumbar vertebrae ,spondylosis ,emission-computed tomography ,Medicine - Abstract
Introduction: Lack of efficacy of pharmacotherapy and physiotherapy in spinal pain syndrome is an indication for intervertebral stabilizer implantation between the processes in the lumbar segment of the spine. Material and methods: The group consisted of 32 patients qualified after radioisotopic single-photon emission computed tomography/computed tomography (SPECT/CT) examinations with assessment of bone metabolism and mineral density. For comparative purposes, the L2 vertebra was defined as normal. Parameters defined in the area of operated vertebrae were comparable to L2. Imaging examinations and a pain intensity test were performed before and 12 months after the procedure. Results: In SPECT, osteotropic isotope (OI) activity in spinous bodies and processes was close to L2 values. Density assessed in CT of analysed vertebrae was close to L2. In the control examination, activity of OI in spinous bodies and processes was higher in the procedure area. Under the stabilizer, there was a strong positive correlation with the L2 parameters. The differences were statistically significant (p = 0.0002). The increase of OI activity in the elements above the stabilizer was variable. In the control examination, there was higher density of spinous processes and bodies above and under the stabilizer. The difference, compared to the L2 density, was statistically significant. Conclusions : The radioisotopic method with SPECT/CT allows for the precise assessment of bone metabolism in the spine. After the procedure, a negative correlation was observed between bone metabolism changes and pain intensity test results. more...
- Published
- 2016
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27. Diagnostic accuracy of quantitative dual-energy CT-based volumetric bone mineral density assessment for the prediction of osteoporosis-associated fractures
- Author
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Tatjana Gruber-Rouh, Julian L. Wichmann, Leona S. Alizadeh, Lukas Lenga, Leon D. Gruenewald, Christoph Mader, Tommaso D'Angelo, Christian Booz, Silvio Mazziotti, Vitali Koch, Katrin Eichler, Thomas J. Vogl, Simon S. Martin, Stefan Wesarg, Ibrahim Yel, Nicole A Huizinga, Moritz H. Albrecht, Publica, APH - Quality of Care, Biological Psychology, and APH - Mental Health more...
- Subjects
Lead Topic: Individual Health ,Research Line: Modeling (MOD) ,medicine.medical_specialty ,Bone diseases, Metabolic ,Bone density ,Osteoporosis ,CT dual-energy computed tomography ,Osteoporotic fractures ,Logistic regression ,dual-energy CT ,Medicine ,Radiology, Nuclear Medicine and imaging ,ddc:610 ,Research Line: Computer vision (CV) ,Bone mineral ,bone mineral density (BMD) ,Receiver operating characteristic ,business.industry ,Incidence (epidemiology) ,Ultrasound ,General Medicine ,Odds ratio ,medicine.disease ,Radiology ,Metabolic ,business ,Bone diseases - Abstract
Objectives To evaluate the predictive value of volumetric bone mineral density (BMD) assessment of the lumbar spine derived from phantomless dual-energy CT (DECT)-based volumetric material decomposition as an indicator for the 2-year occurrence risk of osteoporosis-associated fractures. Methods L1 of 92 patients (46 men, 46 women; mean age, 64 years, range, 19–103 years) who had undergone third-generation dual-source DECT between 01/2016 and 12/2018 was retrospectively analyzed. For phantomless BMD assessment, dedicated DECT postprocessing software using material decomposition was applied. Digital files of all patients were sighted for 2 years following DECT to obtain the incidence of osteoporotic fractures. Receiver operating characteristic (ROC) analysis was used to calculate cut-off values and logistic regression models were used to determine associations of BMD, sex, and age with the occurrence of osteoporotic fractures. Results A DECT-derived BMD cut-off of 93.70 mg/cm3 yielded 85.45% sensitivity and 89.19% specificity for the prediction to sustain one or more osteoporosis-associated fractures within 2 years after BMD measurement. DECT-derived BMD was significantly associated with the occurrence of new fractures (odds ratio of 0.8710, 95% CI, 0.091–0.9375, p p Conclusions Retrospective DECT-based volumetric BMD assessment can accurately predict the 2-year risk to sustain an osteoporosis-associated fracture in at-risk patients without requiring a calibration phantom. Lower DECT-based BMD values are strongly associated with an increased risk to sustain fragility fractures. Key Points •Dual-energy CT–derived assessment of bone mineral density can identify patients at risk to sustain osteoporosis-associated fractures with a sensitivity of 85.45% and a specificity of 89.19%. •The DECT-derived BMD threshold for identification of at-risk patients lies above the American College of Radiology (ACR) QCT guidelines for the identification of osteoporosis (93.70 mg/cm3 vs 80 mg/cm3). more...
- Published
- 2022
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28. Hypervitaminosis A in Pediatric Patients With Advanced Chronic Kidney Disease
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Charles D. Varnell, Veronica Taylor, Meredith Harris, Bin Zhang, Elif Erkan, and Susan Tulley Nehus
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Male ,0301 basic medicine ,Vitamin ,medicine.medical_specialty ,Population ,030232 urology & nephrology ,Medicine (miscellaneous) ,Adynamic bone disease ,Parathyroid hormone ,Gastroenterology ,Article ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,Hypervitaminosis A ,Renal Insufficiency, Chronic ,Vitamin D ,Child ,Vitamin A ,education ,education.field_of_study ,030109 nutrition & dietetics ,Nutrition and Dietetics ,business.industry ,medicine.disease ,chemistry ,Parathyroid Hormone ,Nephrology ,Cohort ,Calcium ,Female ,Bone Diseases ,business ,Mineral bone disease ,Kidney disease - Abstract
Objective Hypervitaminosis A is well-described but overlooked in chronic kidney disease (CKD) and has been associated with hypercalcemia, contributing to mineral bone disease. Our objective is to assess prevalence of hypervitaminosis A and its association with bone health in an advanced-CKD population. Methods We performed a retrospective review of 58 children with CKD 4-5 to examine the association between vitamin A levels and bone health and compared these values between a primarily formula-fed (FF) and nonprimarily formula-fed cohort (NFF). Results Fifty-six of 58 patients (97%) had hypervitaminosis A with a mean vitamin A level of 1,475 ± 597 mcg/dL. When compared with the upper limit of normal vitamin A level for age, the FF group's vitamin A level was 2.9x upper limit of normal and the NFF group's vitamin A level was 2.2x upper limit of normal (P = .02). The mean calcium level was 10.3 mg/dL in the FF group and 9.8 mg/dL in the NFF group (P = .057). Percent of patients lower than, within, or greater than goal parathyroid hormone range was statistically significant with 15 (62%) of the FF group lower than goal and 16 (72%) of the NFF cohort greater than goal (P = .006). Conclusions We concluded vitamin A and calcium levels are higher in the FF versus the NFF population. FF patients are more likely to have parathyroid hormone levels lower than the goal range, placing them at risk for adynamic bone disease. We recommend monitoring vitamin A levels as part of routine nutritional assessments and dietary interventions to prevent hypervitaminosis A to improve bone health in late CKD. more...
- Published
- 2022
- Full Text
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29. Остеопороз и остеопатии
- Subjects
medicine ,endocrinology ,rheumatology ,bone diseases ,mineral metabolism ,osteoporosis ,Osteopathy ,RZ301-397.5 - Published
- 2018
30. Deciphering spatial genomic heterogeneity at a single cell resolution in multiple myeloma
- Author
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Paul K. Wallace, Joseph D. Tario, Philip L. McCarthy, AnneMarie W. Block, Jens Hillengass, Ahmed Belal, Mehmet Kemal Samur, Cherie Rondeau, Jesse Luce, Maximilian Merz, Hemn Mohammadpour, Theresa Hahn, Lei Wei, Almuth Maria Anni Merz, Sean T. Glenn, Song Liu, Kimberly Celotto, Jie Wang, Nicholas Hutson, Prashant Singh, Megan M. Herr, Qiang Hu, Ronald A. Alberico, and Nikhil C. Munshi more...
- Subjects
Multidisciplinary ,Science ,Resolution (electron density) ,Cell ,Plasma Cells ,General Physics and Astronomy ,Computational biology ,Genomics ,General Chemistry ,Biology ,medicine.disease ,General Biochemistry, Genetics and Molecular Biology ,Gene Expression Regulation, Neoplastic ,Genetic Heterogeneity ,medicine.anatomical_structure ,Bone Marrow ,Exome Sequencing ,medicine ,Cluster Analysis ,Humans ,Bone Diseases ,Multiple Myeloma ,Multiple myeloma - Abstract
Osteolytic lesions (OL) characterize symptomatic multiple myeloma. The mechanisms of how malignant plasma cells (PC) cause OL in one region while others show no signs of bone destruction despite subtotal infiltration remain unknown. We report on a single-cell RNA sequencing (scRNA-seq) study of PC obtained prospectively from random bone marrow aspirates (BM) and paired imaging-guided biopsies of OL. We analyze 148,630 PC from 24 different locations in 10 patients and observe vast inter- and intra-patient heterogeneity based on scRNA-seq analyses. Beyond the limited evidence for spatial heterogeneity from whole-exome sequencing, we find an additional layer of complexity by integrated analysis of anchored scRNA-seq datasets from the BM and OL. PC from OL are characterized by differentially expressed genes compared to PC from BM, including upregulation of genes associated with myeloma bone disease like DKK1, HGF and TIMP-1 as well as recurrent downregulation of JUN/FOS, DUSP1 and HBB. Assessment of PC from longitudinally collected samples reveals transcriptional changes after induction therapy. Our study contributes to the understanding of destructive myeloma bone disease. more...
- Published
- 2022
31. Changes of Migration, Immunoregulation and Osteogenic Differentiation of Mesenchymal Stem Cells in Different Stages of Inflammation
- Author
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Xiaoping Xie, Qiangqiang Wen, Tiecheng Yu, Zhenjiang Sui, Jiangbi Li, Feng Gu, Ke Zhang, and Zilong Su
- Subjects
Inflammation ,Immunomodulatory ,Mesenchymal stem cell ,Mesenchymal Stem Cells ,Cell Differentiation ,Review ,General Medicine ,Biology ,Infections ,Cell biology ,Immunomodulation ,Cell Movement ,Osteogenesis ,Differentiation ,Acute Disease ,Chronic Disease ,medicine ,Humans ,Bone Diseases ,medicine.symptom ,Infection ,Signal Transduction - Abstract
Bone infection has always been the focus of orthopedic research. Mesenchymal stem cells (MSCs) are the natural progenitors of osteoblasts, and the process of osteogenesis is triggered in response to different signals from the extracellular matrix. MSCs exert important functions including secretion and immune regulation and also play a key role in bone regeneration. The biological behavior of MSCs in acute and chronic inflammation, especially the transformation between acute inflammation and chronic inflammation, has aroused great interest among researchers. This paper reviews the recent literature and summarizes the behavior and biological characteristics of MSCs in acute and chronic inflammation to stimulate further research on MSCs and treatment of bone diseases. more...
- Published
- 2022
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32. Evidence-based Treatment of Failed Primary Osteochondral Lesions of the Talus: A Systematic Review on Clinical Outcomes of Bone Marrow Stimulation
- Author
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Eoghan T. Hurley, Gino M. M. J. Kerkhoffs, Jari Dahmen, Yoshiharu Shimozono, John G. Kennedy, Christopher D. Murawski, Sjoerd A. S. Stufkens, Graduate School, Orthopedic Surgery and Sports Medicine, AMS - Amsterdam Movement Sciences, AMS - Ageing & Vitality, and AMS - Sports more...
- Subjects
medicine.medical_specialty ,revision ,Evidence-based practice ,Intra-Articular Fractures ,Biomedical Engineering ,bone marrow stimulation ,failed surgery ,Physical Therapy, Sports Therapy and Rehabilitation ,Stimulation ,Bone Marrow ,medicine ,Humans ,Immunology and Allergy ,microfracture ,Clinical Research papers ,osteochondral lesions ,arthroscopy ,medicine.diagnostic_test ,business.industry ,Arthroscopy ,nonprimary ,talus ,Magnetic Resonance Imaging ,Return to Sport ,Surgery ,Cartilage ,Treatment Outcome ,medicine.anatomical_structure ,Ankle and Foot ,Quality of Life ,Bone marrow ,Bone Diseases ,business ,Sports - Abstract
Objective The purpose of this study is to systematically review the literature and to evaluate the outcomes following bone marrow stimulation (BMS) for nonprimary osteochondral lesions of the talus (OLT). Design A literature search was performed to identify studies published using PubMed (MEDLINE), EMBASE, CDSR, DARE, and CENTRAL. The review was performed according to the PRISMA guidelines. Two authors separately and independently screened the search results and conducted the quality assessment using the Methodological Index for Non-Randomized Studies (MINORS). Studies were pooled on clinical, sports, work, and imaging outcomes, as well as revision rates and complications. The primary outcome was clinical success rate. Results Five studies with 70 patients were included in whom nonprimary OLTs were treated with secondary BMS. The pooled clinical success rate was 61% (95% confidence interval [CI], 50-72). The rate of return to any level of sport was 83% (95% CI, 70-91), while the return to pre-injury level of sport was 55% (95% CI, 34-74). The rate of return to work was 92% (95% CI, 78-97), and the complication rate was assessed to be 10% (95% CI, 4-22). Imaging outcomes were heterogeneous in outcome assessment, though a depressed subchondral bone plate was observed in 91% of the patients. The revision rate was 27% (95% CI, 18-40). Conclusions The overall success rate of arthroscopic BMS for nonprimary osteochondral lesions of the talus was 61%, including a revision rate of 27%. Return to sports, work, and complication outcomes yielded fair to good results. more...
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- 2021
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33. Cribriotic lesions in archaeological human skeletal remains. Prevalence, co-occurrence, and association in medieval and early modern Netherlands
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Rachel Schats
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Adult ,Bone growth ,Archeology ,medicine.medical_specialty ,business.industry ,Co-occurrence ,Dermatology ,Body Remains ,Pathology and Forensic Medicine ,Lesion ,Prevalence ,Etiology ,Humans ,Medicine ,Age distribution ,Bone Diseases ,medicine.symptom ,business ,Orbit ,Netherlands - Abstract
ObjectiveThis paper studies the prevalence, co-occurrence, and association of cribra orbitalia, cribra humeri, and cribra femora to contribute to the complex debate on cribriotic lesions and their relationship with one another.Materials179 adults and 53 non-adults from the medieval/early modern Netherlands (800–1600 CE) for whom all three lesions could be observed are included in this study.MethodsPresence or absence of cribriotic lesions was studied macroscopically. Prevalence, co-occurrence, and association of lesions and their link to sex and age-at-death were assessed.ResultsA clear link between prevalence of the lesions and age-at-death is found. Co-occurrence and association of all three lesions is uncommon. There is a significant moderate correlation for cribra humeri-femora in non-adults.ConclusionsLesion prevalence is connected to age-at-death. However, while a similar age distribution and associations between pairs of lesions are noted, due to limited co-occurrence of the three lesions, the presence of a ‘cribrous syndrome’ cannot supported.SignificanceThis is the first study investigating the prevalence, co-occurrence and association of cribra orbitalia, cribra humeri, and cribra femora in non-adults and adults contributing to discussions about the nature and the much-debated aetiology of these commonly encountered skeletal lesions.LimitationsThe number of non-adults in this study is limited, potentially obscuring meaningful patterns, as the cribrous lesions are significantly more common in younger individuals.Suggestions for further researchMore research into the prevalence of the post-cranial lesions and their co-occurrence as well as into bone growth and remodelling is warranted. more...
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- 2021
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34. Peripheral Blood Mononuclear Cells (PBMCs) to Dissect the Underlying Mechanisms of Bone Disease in Chronic Kidney Disease and Rare Renal Diseases
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Candide Alioli, Marie-Noelle Meaux, Julie Bernardor, Irma Machuca-Gayet, Justine Bacchetta, Olivier Peyruchaud, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence des Maladies Rares du Métabolisme du Phosphore et du Calcium and Filière de Santé Maladies Rares (OSCAR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Université Côte d'Azur (UCA), Hôpital Archet 2 [Nice] (CHU), Filières Maladies Rares ORKID et ERK-Net, and Peyruchaud, Olivier more...
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Stromal cell ,Bone disease ,Endocrinology, Diabetes and Metabolism ,Cystinosis ,Cell Culture Techniques ,Osteoclasts ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Bone tissue ,Peripheral blood mononuclear cell ,Bone resorption ,Bone remodeling ,[SDV.CAN] Life Sciences [q-bio]/Cancer ,CKD ,medicine ,Animals ,Humans ,Renal Insufficiency, Chronic ,Kidney ,Osteoblasts ,business.industry ,medicine.disease ,medicine.anatomical_structure ,PBMCs ,Immunology ,Leukocytes, Mononuclear ,Bone Diseases ,business ,Kidney disease - Abstract
International audience; Purpose of review: To describe the methods that can be used to obtain functional and mature osteoclasts from peripheral blood mononuclear cells (PBMCs) and report the data obtained with this model in two peculiar diseases, namely pediatric chronic kidney disease-associated mineral and bone disorders (CKD-MBD) and nephropathic cystinosis. To discuss future research possibilities in the field.Recent findings: Bone tissue undergoes continuous remodeling throughout life to maintain bone architecture; it involves two processes: bone formation and bone resorption with the coordinated activity of osteoblasts, osteoclasts, and osteocytes. Animal models fail to fully explain human bone pathophysiology during chronic kidney disease, mainly due to interspecies differences. The development of in vitro models has permitted to mimic human bone-related diseases as an alternative to in vivo models. Since 1997, osteoclasts have been generated in cell cultures, notably when culturing PBMCs with specific growth factors and cytokines (i.e., M-CSF and RANK-L), without the need for osteoblasts or stromal cells. These models may improve the global understanding of bone pathophysiology. They can be been used not only to evaluate the direct effects of cytokines, hormones, cells, or drugs on bone remodeling during CKD-MBD, but also in peculiar genetic renal diseases inducing specific bone impairment. more...
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- 2021
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35. Outcome of Surgical Management of Hemophilic Pseudotumor: Review of 10 Cases from Single‐Center
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Yunfeng Yao, Juehua Jing, Fang Wang, Gao Qiang, Chenxi Xue, and Li Jiale
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Adult ,Male ,medicine.medical_specialty ,Hemophilic pseudotumors ,medicine.medical_treatment ,Long bone ,Blood Loss, Surgical ,Knee replacement ,Thigh ,Single Center ,Hemophilia A ,law.invention ,Intramedullary rod ,Young Adult ,law ,Medicine ,Outpatient clinic ,Humans ,Orthopedics and Sports Medicine ,Hemophilia ,Retrospective Studies ,Orthopedic surgery ,Clinical Article ,Factor VIII ,business.industry ,Coagulants ,Perioperative ,Surgery ,medicine.anatomical_structure ,Surgical resection ,Clinical Articles ,Surgical management ,Female ,Bone Diseases ,business ,Range of motion ,RD701-811 - Abstract
Objective To evaluate the operative methods and clinical results of surgical treatment in a case series of 10 patients with hemophilic pseudotumors. Methods Ten patients with hemophilic pseudotumors who received surgical resection treatment in our hospital from October 2017 to June 2020 were retrospectively reviewed. All patients were hemophilia A (factor VIII deficiency).The age range was 20–51 years. Preoperative imaging examination revealed the size of irregular mass from 8.2 cm× 3.3 cm× 2.3 cm to 22.3 cm× 15.5 cm× 17.0 cm. With the supplementary of recombinant coagulation factor VIII, five cases received complete resection; one received resection and skin grafting; one received cytoreduction surgery as the pseudotumor closing to iliac vessel and nerve; three cases received complete resection and construction as bone destruction. The perioperative variables were recorded and all the patients were followed in the outpatient clinic. Clinical and radiological assessments were conducted. Results In these patients, the average intraoperative blood loss volume was 783.1 mL (range, 240–2100 mL). Six patients received blood transfusion during perioperative period. The average duration of surgery was 140.7 min (range, 110–240 min). All wounds healed smoothly and there was no infection or chronic sinus formation. The average length of hospital stay was 16.3 days (range, 12–25 days). There is no iatrogenic vascular nerve injury in our series. Complete follow‐up was performed in all patients. Mean follow‐up duration was 14.2 months (range, 6–26 months). One patient with pseudotumor in the thigh had a recurrence 1 year after operation, then secondary operation was performed. In three cases who received complete resection and construction, patient 8 obtained bone graft and late fixation. X‐ray examination showed bone formation in the lesion at the 2‐year follow‐ups after operation. Patient 9 underwent knee replacement, his left knee showed flexion deformity in preoparation. At the last follow‐up, range of motion was improved from 0° to 40° compared with preoperative status. Patient 10 had pseudotumor in the distal femur, received long bone graft and intramedullary nail fixation. Conclusions Surgical resection for hemophilic pseudotumors is an effective and safe method. The choice of surgical procedure must be individualized according to the localization and progress of pseudotumor., Pseudotumors occur in 1% to 2% of patients with severe hemophilia and they are associated with encapsulated blood after bleeding in soft tissue or subperiosteum. There are three kinds of pseudotumors: Type I, a simple cyst which develops within the muscle; Type II, a cyst that develops in a muscle and has an extensive blood supply in region of its attachment to a bone, which leads to compression to cortex and thinning of the cortex of bone; Type III, which starts as subperiosteal hemorrhage and destroys the structure of the underlining bone, and is considered as true pseudotumor, and originate from the bone itself. Due to the enlarged cyst resulting in compression of bone, pseudotumors often lead to bone structure erosion and fracture. Treatment for this type of hemophilic complication is very difficult due to its rarity. more...
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- 2021
36. Sensory Innervation of Human Bone: An Immunohistochemical Study to Further Understand Bone Pain
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Douwe Oostinga, Mattie H.P. van Rijen, Floris R van Tol, Tom A.P. Roeling, Albert J.M. van Wijck, Claire Mackaaij, Bas Jeroen Oosterman, Jorrit-Jan Verlaan, Suzanne A.M.W. Verlinde-Schellekens, and Jasper G. Steverink more...
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Periosteum ,business.industry ,Age Factors ,Sensory system ,Anatomy ,Immunohistochemistry ,Anesthesiology and Pain Medicine ,medicine.anatomical_structure ,Neurology ,Bone Marrow ,Musculoskeletal Pain ,Neurocranium ,Cortical Bone ,medicine ,Humans ,Cortical bone ,Neurology (clinical) ,Bone marrow ,Animal studies ,Bone Diseases ,medicine.symptom ,business ,Bone pain ,Sensory nerve - Abstract
Skeletal diseases and their surgical treatment induce severe pain. The innervation density of bone potentially explains the severe pain reported. Animal studies concluded that sensory myelinated A∂-fibers and unmyelinated C-fibers are mainly responsible for conducting bone pain, and that the innervation density of these nerve fibers was highest in periosteum. However, literature regarding sensory innervation of human bone is scarce. This observational study aimed to quantify sensory nerve fiber density in periosteum, cortical bone, and bone marrow of axial and appendicular human bones using immunohistochemistry and confocal microscopy. Multivariate Poisson regression analysis demonstrated that the total number of sensory and sympathetic nerve fibers was highest in periosteum, followed by bone marrow, and cortical bone for all bones studied. Bone from thoracic vertebral bodies contained most sensory nerve fibers, followed by the upper extremity, lower extremity, and parietal neurocranium. The number of nerve fibers declined with age and did not differ between male and female specimens. Sensory nerve fibers were organized as a branched network throughout the periosteum. The current results provide an explanation for the severe pain accompanying skeletal disease, fracture, or surgery. Further, the results could provide more insight into mechanisms that generate and maintain skeletal pain and might aid in developing new treatment strategies. PERSPECTIVE: This article presents the innervation of human bone and assesses the effect of age, gender, bone compartment and type of bone on innervation density. The presented data provide an explanation for the severity of bone pain arising from skeletal diseases and their surgical treatment. more...
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- 2021
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37. Blood lead levels, calcium metabolism and bone-turnover among automobile technicians in Sagamu, Nigeria: Implications for elevated risk of susceptibility to bone diseases
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John I. Anetor, Opeyemi A Adetunji, Nnodimele O. S. Atulomah, Osahon S Usiobeigbe, Nnenna L. Nwobi, Joseph C. Nwobi, and Esther Ngozi Adejumo
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Adult ,Male ,Health, Toxicology and Mutagenesis ,Nigeria ,Physiology ,Toxicology ,Bone remodeling ,Young Adult ,chemistry.chemical_compound ,Lead (geology) ,Risk Factors ,Occupational Exposure ,medicine ,Humans ,Calcium metabolism ,medicine.diagnostic_test ,business.industry ,Public Health, Environmental and Occupational Health ,Middle Aged ,Cross-Sectional Studies ,Lead ,chemistry ,Calcium ,Blood lead level ,Bone Remodeling ,Bone Diseases ,business ,Automobiles ,Biomarkers ,Toxicant - Abstract
Lead is an occupational toxicant and a recognised health threat particularly in developing countries. Hence, this study explored the interaction of blood lead level (BLL), a conventional marker of lead exposure, with indices of calcium metabolism and biomarkers of bone-turnover in 120 adult male automobile technicians (AT) with ≥ 1 year duration in professional practice. The AT as well as the control group, which comprised 120 age, body-size and socio-economically matched male administrative workers, were recruited from Sagamu, South West Nigeria. Levels of blood lead, serum indices of calcium metabolism [total calcium (tCa), ionised calcium (iCa), phosphate, albumin, magnesium (Mg) and 25-Hydroxycholecalceferol (25-OHCC)], biomarkers of bone formation [bone alkaline phosphatase (BALP) and osteocalcin (OC)] and biomarkers of bone resorption [tartarate-resistant acid phosphatase-5b (TACRP-5b) and urinary hydroxyproline (UHYP)] were determined in all participants. The BLL, 25-OHCC, TRACP-5b and UHYP significantly increased while tCa and iCa significantly reduced in AT compared to control. However, no significant difference was observed in phosphate, albumin, Mg, BALP and OC in AT compared to control. Interestingly, BLL demonstrated a significant negative association with tCa and iCa but a significant positive association with 25-OHCC, TRACP-5b and UHYP. However, BLL did not show significant association with phosphate, albumin, Mg, BALP and OC. Increased lead exposure as well as altered calcium metabolism and bone-turnover demonstrated by the automobile technicians may be suggestive of lead-induced accelerated bone demineralisation. These workers may be predisposed to high risk of increased susceptibility to bone diseases if this sub-clinical picture is sustained. more...
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- 2021
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38. Pathogenesis and treatment of multiple myeloma bone disease
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Masahiro Abe, Masahiro Hiasa, Takeshi Harada, and Eiji Tanaka
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Osteoblasts ,Bone disease ,business.industry ,Osteoclasts ,RK1-715 ,Review Article ,Disease ,medicine.disease ,Malignancy ,Osteocytes ,Pathogenesis ,medicine.anatomical_structure ,immune system diseases ,hemic and lymphatic diseases ,Dentistry ,Plasma Cell Myeloma ,medicine ,Tumor Expansion ,Cancer research ,Multiple myeloma (Plasma cell myeloma) ,Bone marrow ,business ,General Dentistry ,Bone diseases ,Multiple myeloma - Abstract
Multiple myeloma (Plasma cell myeloma), a malignancy of the plasma cells, exhibits tumor expansion preferentially in the bone marrow and the development of bone-destructive lesions. Multiple myeloma is still an incurable disease with changes in the bone marrow microenvironment in favor of the survival and proliferation of multiple myeloma cells and bone destruction. In this review, we described the recent findings on the regulators involved in the development of myeloma bone diseases, and succinctly summarize currently available therapeutic options and the development of novel bone modifying agents for myeloma treatment. more...
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- 2021
39. What happens to the patella height in patients with cerebral palsy as they age
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Chin Youb Chung, Kyoung Min Lee, Jae Jung Min, Soon Sun Kwon, Hansang Lee, Moon Seok Park, and Ki Hyuk Sung
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medicine.medical_specialty ,business.industry ,Cerebral Palsy ,Retrospective cohort study ,Gross Motor Function Classification System ,Patella ,medicine.disease ,Cerebral palsy ,Radiography ,Child, Preschool ,Reference values ,Internal medicine ,Pediatrics, Perinatology and Child Health ,medicine ,Humans ,Orthopedics and Sports Medicine ,In patient ,Bone Diseases ,business ,Retrospective Studies - Abstract
OBJECTIVE We aimed to investigate the progression of patella alta (PA) in patients with cerebral palsy (CP) using the Koshino-Sugimoto (KS) index and assess associated risk factors. METHOD Participants in our retrospective study met the following inclusion criteria: patients with CP who visited our institute from May 2003 to December 2019, were ≤18 years of age, were followed up for >2 years and had at least two lateral knee radiographs. KS indices of both knee radiographs were measured for each patient. A linear mixed model was implemented. RESULTS Our participants included 222 CP patients. KS index values were measured via 652 knee radiographs. Reference values of the KS index for those between 4 and 18 years of age were determined according to Gross Motor Function Classification System (GMFCS) levels. In all GMFCS levels, the KS index decreased with patients' ages (P < 0.0001). In groups where the KS index increased, GMFCS levels IV (P = 0.0045) and V (P = 0.0040) were statistically significant. CONCLUSIONS Change in the KS index values indicates that PA improves as patients age within all GMFCS levels. However, in patients with GMFCS levels of IV and V, progressive PA is expected. more...
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- 2021
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40. <scp>MPS</scp> I: Early diagnosis, bone disease and treatment, where are we now?
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An I. Jonckheere and Sandra D. K. Kingma
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Oncology ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Bone disease ,Mucopolysaccharidosis I ,Disease ,Severity of Illness Index ,Mucopolysaccharidosis type I ,Neonatal Screening ,Internal medicine ,Genetics ,medicine ,Humans ,Enzyme Replacement Therapy ,skin and connective tissue diseases ,Genetics (clinical) ,Newborn screening ,business.industry ,Hematopoietic Stem Cell Transplantation ,Infant, Newborn ,Disease Management ,nutritional and metabolic diseases ,Genetic Therapy ,Enzyme replacement therapy ,medicine.disease ,Pathophysiology ,Transplantation ,Early Diagnosis ,Phenotype ,Intercellular Signaling Peptides and Proteins ,Human medicine ,Bone Diseases ,Stem cell ,business - Abstract
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterized by α-L-iduronidase deficiency. Patients present with a broad spectrum of disease severity ranging from the most severe phenotype (Hurler) with devastating neurocognitive decline, bone disease and early death to intermediate (Hurler-Scheie) and more attenuated (Scheie) phenotypes, with a normal life expectancy. The most severely affected patients are preferably treated with haematopoietic stem cell transplantation, which halts the neurocognitive decline. Patients with more attenuated phenotypes are treated with enzyme replacement therapy. There are several challenges to be met in the treatment of MPS I patients. Firstly, to optimize outcome, early recognition of the disease and clinical phenotype is needed to guide decisions on therapeutic strategies. Secondly, there is thus far no effective treatment available for MPS I bone disease. The pathophysiological mechanisms behind bone disease are largely unknown, limiting the development of effective therapeutic strategies. This article is a state of the art that comprehensively discusses 3 of the most urgent open issues in MPS I: early diagnosis of MPS I patients, pathophysiology of MPS I bone disease, and emerging therapeutic strategies for MPS I bone disease. This article is protected by copyright. All rights reserved. more...
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- 2021
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41. Importance of bone turnover for therapeutic decisions in patients with CKD-MBD
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Vanda Jorgetti, Hartmut H. Malluche, Susan M. Ott, and Grahame J Elder
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Chronic Kidney Disease-Mineral and Bone Disorder ,Fracture risk ,Kidney ,medicine.medical_specialty ,Bone Density Conservation Agents ,business.industry ,Adynamic bone disease ,Pathophysiology ,Bone remodeling ,medicine.anatomical_structure ,Nephrology ,Internal medicine ,Humans ,Medicine ,In patient ,Bone formation ,Bone Remodeling ,Bone Diseases ,business - Abstract
Patients with chronic kidney disease-mineral and bone disorder (CKD-MBD) frequently have low bone formation rates. A recent review suggested that adynamic bone disease is not always associated with negative outcomes and therefore antiresorptive medications could be used more often. However, there is currently no evidence to support an improvement in fracture risk or mortality in patients with CKD-MBD and low bone turnover who are treated with antiresorptive medication. There is reasonable pathophysiological evidence suggesting that it may even be harmful. more...
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- 2021
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42. Associations between bone attenuation and prevalent vertebral fractures on chest CT scans differ with vertebral fracture locations
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Frank W.J.M. Smeenk, Emiel F.M. Wouters, Piet Geusens, Johanna H M Driessen, M J van Dort, Elisabeth A. P. M. Romme, J. van den Bergh, B. van Rietbergen, Orthopaedic Biomechanics, Clinical Pharmacy, RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, RS: NUTRIM - R3 - Respiratory & Age-related Health, Interne Geneeskunde, Pulmonologie, MUMC+: MA Longziekten (3), Onderwijsontw & Onderwijsresearch, RS: SHE - R1 - Research (OvO), and RS: CAPHRI - R3 - Functioning, Participating and Rehabilitation more...
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0301 basic medicine ,medicine.medical_specialty ,LUMBAR SPINE ,PREDICTION ,Endocrinology, Diabetes and Metabolism ,Vertebral level ,ct scans ,MODELS ,Chest ct ,Bone attenuation ,030209 endocrinology & metabolism ,SDG 3 – Goede gezondheid en welzijn ,Age and sex ,03 medical and health sciences ,0302 clinical medicine ,SDG 3 - Good Health and Well-being ,Bone Density ,Hounsfield scale ,COMPRESSIVE STRENGTH ,Medicine ,Humans ,Spinal Fractures/diagnostic imaging ,Tomography ,Bone mineral ,RISK ,DXA ,business.industry ,WOMEN ,MEN ,BIOMECHANICS ,Spine ,X-Ray Computed ,Vertebra ,Bone Diseases, Metabolic ,medicine.anatomical_structure ,Vertebral fractures ,Orthopedic surgery ,Spinal Fractures ,Lumbar spine ,Original Article ,MINERAL DENSITY ,Metabolic ,030101 anatomy & morphology ,Bone Diseases ,business ,Nuclear medicine ,Tomography, X-Ray Computed - Abstract
Vertebral fracture (VF) locations are bimodally distributed in the spine. The association between VF and bone attenuation (BA) measured on chest CT scans varied according to the location of VFs, indicating that other factors than only BA play a role in the bimodal distribution of VFs.INTRODUCTION: Vertebral fractures (VFs) are associated with low bone mineral density but are not equally distributed throughout the spine and occur most commonly at T7-T8 and T11-T12 ("cVFs") and less commonly at T4-T6 and T9-T10 ("lcVF"). We aimed to determine whether associations between bone attenuation (BA) and VFs vary between subjects with cVFs only, with lcVFs only and with both cVFs and lcVFs.METHODS: Chest CT images of T4-T12 in 1237 smokers with and without COPD were analysed for prevalent VFs according to the method described by Genant (11,133 vertebrae). BA (expressed in Hounsfield units) was measured in all non-fractured vertebrae (available for 10,489 vertebrae). Linear regression was used to compare mean BA, and logistic regression was used to estimate the association of BA with prevalent VFs (adjusted for age and sex).RESULTS: On vertebral level, the proportion of cVFs was significantly higher than of lcVF (5.6% vs 2.0%). Compared to subjects without VFs, BA was 15% lower in subjects with cVFs (p < 0.0001), 25% lower in subjects with lcVFs (p < 0.0001) and lowest in subjects with cVFs and lcVFs (- 32%, p < 0.0001). The highest ORs for presence of VFs per - 1SD BA per vertebra were found in subjects with both cVFs and lcVFs (3.8 to 4.6).CONCLUSIONS: The association between VFs and BA differed according to VF location. ORs increased from subjects with cVFs to subjects with lcVFs and were highest in subjects with cVFs and lcVFs, indicating that other factors than only BA play a role in the bimodal VF distribution.TRIAL REGISTRATION: Clinicaltrials.gov identifier: NCT00292552. more...
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- 2021
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43. Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss
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Amir Ghorbani-Aghbolagh, Morgan Angus Darrow, and Tao Wang
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Neoplasm ,Connective Tissue ,Oncogenic Osteomalacia ,Fibroblast Growth factors ,Hypophosphatemia ,Bone Diseases ,Medicine ,Internal medicine ,RC31-1245 - Abstract
Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Thus, overexpression of FGF23 by the tumor cells leads to increased excretion of phosphate in the urine, mobilization of calcium and phosphate from bones, and the reduction of osteoblastic activity, ultimately resulting in widespread osteomalacia. Patients typically present with gradual muscular weakness and diffuse bone pain from pathologic fractures. The diagnosis is often delayed due to the non-specific nature of the symptoms and lack of clinical suspicion. While serum phosphorus and FGF23 testing can assist in making a clinical diagnosis of PMT, the responsible tumor is often difficult to locate. The pathologic diagnosis is often missed due to the rarity of PMTs and histologic overlap with other mesenchymal neoplasms. While patients can experience severe disabilities without treatment, excision is typically curative and results in a dramatic reversal of symptoms. Histologically, PMT has a variable appearance and can resemble other low grade mesenchymal tumors. Even though very few cases of PMT have been reported in the world literature, it is very important to consider this diagnosis in all patients with hypophosphatemic osteomalacia. Here we present a patient who suffered for almost 5 years without a diagnosis. Ultimately, the PMT was located on a 68Ga-DOTA TATE PET/CT scan and subsequently confirmed by histologic and immunohistologic study. Interestingly, strong positivity for FGFR1 by IHC might be related to the recently described FN1-FGFR1 fusion. Upon surgical removal, the patient’s phosphate and FGF23 levels returned to normal and the patient’s symptoms resolved more...
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- 2017
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44. Advances in the molecular pharmacology of bone and cancer-related bone diseases
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R. Graham G. Russell and Claire M. Edwards
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Pharmacology ,business.industry ,Neoplasms ,Humans ,Medicine ,Cancer ,Molecular Pharmacology ,Bone Diseases ,business ,Bioinformatics ,medicine.disease ,Bone and Bones - Published
- 2022
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45. Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity
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Justin R. Bendigo, Megan Lin, Margret L. Casal, Mark E. Haskins, Patricia O'Donnell, Lachlan J. Smith, Yian Khai Lau, Sun H. Peck, Toren Arginteanu, Jennifer L. Kang, and Dena R. Matalon
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Male ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Mucopolysaccharidosis ,Mucopolysaccharidosis VII ,030105 genetics & heredity ,Biochemistry ,Article ,Bone and Bones ,Bone remodeling ,03 medical and health sciences ,chemistry.chemical_compound ,Dogs ,0302 clinical medicine ,Endocrinology ,Osteogenesis ,Genetics ,Lysosomal storage disease ,medicine ,Animals ,Chondroitin sulfate ,skin and connective tissue diseases ,Molecular Biology ,Bone mineral ,Ossification ,business.industry ,nutritional and metabolic diseases ,medicine.disease ,Spine ,Animals, Newborn ,chemistry ,Disease Progression ,Alkaline phosphatase ,Female ,Growth and Development ,Bone Diseases ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient β-glucuronidase activity, leading to accumulation of incompletely degraded heparan, dermatan and chondroitin sulfate glycosaminoglycans. Patients with MPS VII exhibit progressive spinal deformity, which decreases quality of life. Previously, we demonstrated that MPS VII dogs exhibit impaired initiation of secondary ossification in the vertebrae and long bones. The objective of this study was to build on these findings and comprehensively characterize how vertebral bone disease manifests progressively in MPS VII dogs throughout postnatal growth. Vertebrae were collected postmortem from MPS VII and healthy control dogs at seven ages ranging from 9 to 365 days. Microcomputed tomography and histology were used to characterize bone properties in primary and secondary ossification centers. Serum was analyzed for bone turnover biomarkers. Results demonstrated that not only was secondary ossification delayed in MPS VII vertebrae, but that it progressed aberrantly and was markedly diminished even at 365 days-of-age. Within primary ossification centers, bone volume fraction and bone mineral density were significantly lower in MPS VII at 180 and 365 days-of-age. MPS VII growth plates exhibited significantly lower proliferative and hypertrophic zone cellularity at 90 days-of-age, while serum bone-specific alkaline phosphatase (BAP) was significantly lower in MPS VII dogs at 180 days-of-age. Overall, these findings establish that vertebral bone formation is significantly diminished in MPS VII dogs in both primary and secondary ossification centers during postnatal growth. more...
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- 2021
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46. Zygomatic root abscess: A rare entity not to be forgotten!
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Farah Hani Hassan, Azila Alias, Zara Nasseri, Chow Xiao Hong, and Nur Aida Razuan
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Male ,medicine.medical_specialty ,High-resolution computed tomography ,Tympanic Membrane ,Mastoidectomy ,Zygomatic process ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Temporal bone ,Enhancing Lesion ,Humans ,Medicine ,030223 otorhinolaryngology ,Abscess ,Zygoma ,medicine.diagnostic_test ,business.industry ,Rare entity ,Temporal Bone ,General Medicine ,medicine.disease ,Anti-Bacterial Agents ,Surgery ,Otitis ,Otorhinolaryngology ,030220 oncology & carcinogenesis ,Bone Diseases ,medicine.symptom ,Tomography, X-Ray Computed ,business ,Complication - Abstract
Zygomatic root abscess is a rare extracranial extratemporal complication of otitis media. To the best of our knowledge, there are only a few scattered cases of zygomatic root abscesses reported in the literature. We present an unusual case of a zygomatic root abscess in a 24 years old adult. He presented with one month duration of right zygomatic swelling. Otoscopic examination revealed superior and posterior external auditory canal wall sagging with an intact tympanic membrane. High Resolution Computed Tomography (HRCT) temporal bone revealed a rim enhancing lesion lateral to the zygomatic process with fluid filled mastoid air cells. He was managed with antibiotics and staged surgical interventions. He recovered well. Our case serves to shed light on the pathways of infection, clinical manifestations and timely staged surgical intervention in this rare pathology. more...
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- 2021
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47. Skeletal adverse events in childhood cancer survivors: An Adult Life after Childhood Cancer in Scandinavia cohort study
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Laura Madanat-Harjuoja, Arja Harila-Saari, Anna Sällfors Holmqvist, Anne Katrine Duun-Henriksen, Andrea Bautz, Mats Heyman, Riitta Niinimäki, Laufey Tryggvadottir, Jeanette Falck Winther, Trausti Oskarsson, Scott Montgomery, Henrik Hasle, Cecilia Petersen, HUS Children and Adolescents, and Children's Hospital more...
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Male ,skeletal adverse events ,Cancer Research ,Pediatrics ,CHILDREN ,Bone Diseases/epidemiology ,Rate ratio ,Cohort Studies ,Fractures, Bone ,0302 clinical medicine ,Cancer Survivors ,3123 Gynaecology and paediatrics ,Neoplasms ,YOUNG-ADULTS ,LYMPHOMA ,Registries ,030212 general & internal medicine ,Young adult ,Child ,education.field_of_study ,LONG-TERM SURVIVORS ,Registries/statistics & numerical data ,3. Good health ,Hospitalization ,Oncology ,Child, Preschool ,030220 oncology & carcinogenesis ,Cohort ,Female ,Bone Diseases ,BONE-MINERAL DENSITY ,Cancer Survivors/statistics & numerical data ,Cohort study ,Risk ,medicine.medical_specialty ,Adolescent ,OSTEONECROSIS ,3122 Cancers ,Population ,Scandinavian and Nordic Countries ,Young Adult ,03 medical and health sciences ,FRACTURES ,Survivorship curve ,medicine ,Humans ,childhood cancer ,late effects ,education ,Adverse effect ,ACUTE LYMPHOBLASTIC-LEUKEMIA ,Hospitalization/statistics & numerical data ,Cancer och onkologi ,PEDIATRIC-PATIENTS ,business.industry ,Infant ,Cancer ,medicine.disease ,Scandinavian and Nordic Countries/epidemiology ,Cancer and Oncology ,Fractures, Bone/epidemiology ,RISK-FACTORS ,ALiCCS ,business ,Neoplasms/epidemiology ,survivorship - Abstract
The dynamic growth of the skeleton during childhood and adolescence renders it vulnerable to adverse effects of cancer treatment. The lifetime risk and patterns of skeletal morbidity have not been described in a population-based cohort of childhood cancer survivors. A cohort of 26,334 one-year cancer survivors diagnosed before 20 years of age was identified from the national cancer registries of Denmark, Finland, Iceland and Sweden as well as a cohort of 127,531 age- and sex-matched comparison subjects randomly selected from the national population registries in each country. The two cohorts were linked with data from the national hospital registries and the observed numbers of first-time hospital admissions for adverse skeletal outcomes among childhood cancer survivors were compared with the expected numbers derived from the comparison cohort. In total, 1,987 childhood cancer survivors had at least one hospital admission with a skeletal adverse event as discharge diagnosis, yielding a rate ratio (RR) of 1.35 (95% CI, 1.29-1.42). Among the survivors, we observed an increased risk for osteonecrosis with a RR of 25.9 (15.0-44.5), osteoporosis, RR 4.53 (3.28-6.27), fractures, RR 1.27 (1.20-1.34), osteochondropathies, RR 1.57 (1.28-1.92) and osteoarthrosis, RR 1.48 (1.28-1.72). The hospitalization risk for any skeletal adverse event was higher among survivors up to the age of 60 years, but the lifetime pattern was different for each type of skeletal adverse event. Understanding the different lifetime patterns and identification of high-risk groups is crucial for developing strategies to optimize skeletal health in childhood cancer survivors. This article is protected by copyright. All rights reserved. more...
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- 2021
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48. Rare Symptomatic Meta–Os Acromiale in an Athlete
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Rolando Izquierdo, Blake T. Moskal, Jeffrey S. Earhart, Marie Rivers, Gabrielle R. Kuhn, and Rebecca Cheski
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medicine.medical_specialty ,2019-20 coronavirus outbreak ,Coronavirus disease 2019 (COVID-19) ,business.industry ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Physical Therapy, Sports Therapy and Rehabilitation ,Surgery ,Os acromiale ,Fracture Fixation, Internal ,Athletes ,Humans ,Medicine ,Orthopedics and Sports Medicine ,Tension band ,Bone Diseases ,Joint Diseases ,business ,Surgical treatment ,Acromion - Published
- 2021
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49. A functional three‐dimensional microphysiological human model of myeloma bone disease
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Kyle L. Kolaja, Richard J. Visconti, and Jessica Cottrell
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Osteoblasts ,Bone disease ,Tartrate-Resistant Acid Phosphatase ,Chemistry ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Osteoclasts ,Osteoblast ,Bisphosphonate ,medicine.disease ,Bone remodeling ,medicine.anatomical_structure ,Osteoclast ,medicine ,Cancer research ,Humans ,Orthopedics and Sports Medicine ,Cortical bone ,Bone marrow ,Bone Diseases ,Bone Resorption ,medicine.symptom ,Multiple Myeloma ,Bone pain - Abstract
Human myeloma bone disease (MBD) occurs when malignant plasma cells migrate to the bone marrow and commence inimical interactions with stromal cells, disrupting the skeletal remodeling process. The myeloma cells simultaneously suppress osteoblastic bone formation while promoting excessive osteoclastic resorption. This bone metabolism imbalance produces osteolytic lesions that cause chronic bone pain and reduce trabecular and cortical bone structural integrity, and often culminate in pathological fractures. Few bone models exist that enable scientists to study MBD and the effect therapies have on restoring the bone metabolism imbalance. The purpose of this research was to develop a well characterized three-dimensional (3D) bone organoid that could be used to study MBD and current or potential treatment options. First, bone marrow stromal cell-derived osteoblasts (OBs) mineralized an endosteal-like extracellular matrix (ECM) over 21 days. Multiple analyses confirmed the generation of hydroxyapatite (HA)-rich bone-like tissue fragments that were abundant in alkaline phosphatase, calcium, and markers of osteoblastic gene expression. On day 22, bone marrow macrophage (BMM)-derived osteoclasts (OCs) were introduced to enhance the resorptive capability of the model and recapitulate the balanced homeostatic nature of skeletal remodeling. Tartrate-resistant acid phosphatase 5b (TRAcP-5b), type I collagen C-telopeptide (CTX-1), and gene expression analysis confirmed OC activity in the normal 3D organoid (3D in vitro model of normal bonelike fragments [3D-NBF]). On day 30, a human multiple myeloma (MM)-derived plasmacytoma cell line was introduced to the 3D-NBF to generate the 3D-myeloma bone disease organoid (3D-MBD). After 12 days, the 3D-MBD had significantly reduced total HA, increased TRAcP-5b levels, increases levels of CTX-1, and decreased expression of osteoblastic genes. Therapeutic intervention with pharmaceutical agents including an immunomodulatory drug, a bisphosphonate, and monoclonal restored HA content and reduced free CTX-1 in a dose-dependent manner. This osteogenically functional model of MBD provides a novel tool to study biological mechanisms guiding the disease and to screen potential therapeutics. © 2021 American Society for Bone and Mineral Research (ASBMR). more...
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- 2021
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50. Early-Onset Osteoporosis
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M. Carola Zillikens and Outi Mäkitie
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Adult ,Male ,0301 basic medicine ,Bone disease ,Endocrinology, Diabetes and Metabolism ,Osteoporosis ,030209 endocrinology & metabolism ,Gene mutation ,Bioinformatics ,Bone and Bones ,Collagen Type I ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,SDG 3 - Good Health and Well-being ,Skeletal disorder ,Bone Density ,Pregnancy ,medicine ,PLS3 ,Vitamin D and neurology ,Humans ,Orthopedics and Sports Medicine ,Young adult ,Child ,Aged ,business.industry ,medicine.disease ,030104 developmental biology ,Osteogenesis imperfecta ,Mutation ,Female ,Bone Diseases ,business - Abstract
Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly. It is very rare in children and young adults and the definition is not only based on a low BMD (a Z-score Z-score ≤ − 2.0 or a T-score ≤ − 2.5 in young adults) but also on the occurrence of fragility fractures and/or the existence of underlying chronic diseases or secondary factors such as use of glucocorticoids. In the absence of a known chronic disease, fragility fractures and low BMD should prompt extensive screening for secondary causes, which can be found in up to 90% of cases. When fragility fractures occur in childhood or young adulthood without an evident secondary cause, investigations should explore the possibility of an underlying monogenetic bone disease, where bone fragility is caused by a single variant in a gene that has a major role in the skeleton. Several monogenic forms relate to type I collagen, but other forms also exist. Loss-of-function variants in LRP5 and WNT1 may lead to early-onset osteoporosis. The X-chromosomal osteoporosis caused by PLS3 gene mutations affects especially males. Another recently discovered form relates to disturbed sphingolipid metabolism due to SGMS2 mutations, underscoring the complexity of molecular pathology in monogenic early-onset osteoporosis. Management of young patients consists of treatment of secondary factors, optimizing lifestyle factors including calcium and vitamin D and physical exercise. Treatment with bone-active medication should be discussed on a personalized basis, considering the severity of osteoporosis and underlying disease versus the absence of evidence on anti-fracture efficacy and potential harmful effects in pregnancy. more...
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- 2021
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