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https://www.readbyqxmd.com/read/28737011/a-distinctive-patchy-osteomalacia-characterises-phospho1-deficient-mice
#1
Alan Boyde, Katherine A Staines, Behzad Javaheri, Jose Luis Millan, Andrew A Pitsillides, Colin Farquharson
The phosphatase PHOSPHO1 is involved in the initiation of biomineralisation. Bones in Phospho1 knockout (KO) mice show histological osteomalacia with frequent bowing of long bones and spontaneous fractures: they contain less mineral, with smaller mineral crystals. However, the consequences of Phospho1 ablation on the microscale structure of bone are not yet fully elucidated. Tibias and femurs obtained from wild-type and Phospho1 null (KO) mice (25-32 weeks old) were embedded in PMMA, cut and polished to produce near longitudinal sections...
August 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28736272/rheumatic-paraneoplastic-syndromes-a-clinical-link-between-malignancy-and-autoimmunity
#2
Bernhard Manger, Georg Schett
Paraneoplastic syndromes are rare but can have enormous clinical impact on diagnosis and outcome of neoplastic diseases. The rheumatologist should be familiar with a few typical musculoskeletal manifestations of malignancies to be able to diagnose them early for a timely initiation of anti-tumour therapies. This review describes the characteristic features of various paraneoplastic arthritides and vasculitides, cancer-associated myositis, hypertrophic osteoarthropathy, and tumour-induced osteomalacia. In addition, the current knowledge about underlying pathomechanisms of these syndromes is discussed...
July 20, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28728941/comparison-of-calcimimetic-r568-and-calcitriol-in-mineral-homeostasis-in-the-hyp-mouse-a-murine-homolog-of-x-linked-hypophosphatemia
#3
Maren Leifheit-Nestler, Julia Kucka, Emi Yoshizawa, Geert Behets, Patrick D'Haese, Christian Bergen, Martin Meier, Dagmar-Christiane Fischer, Dieter Haffner
X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)2D3 (1,25D) deficiency, rickets and osteomalacia. Here we studied the effects of calcimimetic R568 and calcitriol treatment in the Hyp mouse, a murine homolog of XLH. We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho axis and bone health...
July 18, 2017: Bone
https://www.readbyqxmd.com/read/28725949/tubulointerstitial-nephritis-induced-hypophosphatemic-osteomalacia-in-sj%C3%A3-gren-s-syndrome-a-case-report-and-review-of-the-literature
#4
REVIEW
Yan Geng, Youlu Zhao, Zhuoli Zhang
Sjögren's syndrome (SS) is a chronic autoimmune inflammatory disease that typically affects the salivary and lacrimal glands. Renal involvement is relatively uncommon and may precede other complaints. Tubulointestitial nephritis (TIN) is the most common renal involvement in SS. Osteomalacia occurring as the first manifestation of renal tubular disorder due to SS is very rare. We report a 39-year-old male who presented with polydipsia, polyuria, and multiple bone pain. Bone density test showed severe osteoporosis, and laboratory findings suggested hypokalemia, hypophosphatemia, and vitamin D deficiency, which supported the diagnosis of hypophosphatemic osteomalacia...
July 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28724169/the-spectrum-of-vitamin-d-deficiency-description-of-a-family
#5
Francesco Vierucci, Marta Del Pistoia, Emioli Randazzo, Francesco Massart, Giovanni Federico
Background Vitamin D deficiency represents a global health problem, affecting children and adolescents worldwide. Objects To confirm that vitamin D deficiency can present as a spectrum of clinical pictures. Methods We diagnosed nutritional rickets in a 10-month-old infant of Senegal origin with several risk factors for vitamin D deficiency. As many of these factors affected also his cohabitant relatives, we evaluate infant's family members (mother and 4 brothers) looking for other vitamin D deficiency-related comorbidities...
July 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28719445/adefovir-induced-hypophosphatemic-osteomalacia-mimicking-bone-metastases-from-primary-hepatocarcinoma
#6
Wei-Jun Wei, Zhen-Kui Sun, Chen-Tian Shen, Zhong-Ling Qiu, Quan-Yong Luo
Adefovir-induced hypophosphatemic osteomalacia in the context of hepatocarcinoma is rare and needs to be differentiated from metastatic hepatocarcinoma. We here report a case of severe osteomalacia whose focal uptakes of radiotracer on the Tc-MDP SPECT/CT images mimicked that of metastatic hepatocarcinoma.
July 17, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28718983/multimodality-image-guided-cryoablation-for-inoperable-tumor-induced-osteomalacia
#7
Sri Harsha Tella, Hayet Amalou, Bradford J Wood, Richard Chang, Clara C Chen, Cemre Robinson, Michelle Millwood, Guthrie Lori, Sheng Xu, Elliot Levy, Venkatesh Krishnasamy, Rachel I Gafni, Michael T Collins
Tumor-induced osteomalacia (TIO) is a debilitating paraneoplastic condition caused by small phosphaturic mesenchymal tumors (PMTs) that secrete large amounts of the phosphate- and vitamin D-regulating hormone, FGF23. Tumor removal results in cure. However, due to high perioperative comorbidity, either from tumor location or host factors, surgery is sometimes not an option. Tumor destruction via cryoablation may be an effective option for inoperable PMTs. Three subjects with a confirmed diagnosis of TIO were studied...
July 18, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28718587/-drugs-induced-osteopathies
#8
Bérengère Aubry-Rozier
Drug induced bone diseases concerns : induced osteoporosis, induced osteomalacia (by loss of calcium, phosphate or vitamin D) and induced sarcopenia. Some of these drugs are well known, such as anti-hormones, corticotherapy (which could induce all of osteoporosis, osteomalacia and sarcopenia). In the present article, we will focus on 3 others less known but frequently used drugs : iron replacement, proton pump inhibitors therapy, and serotonin reuptake inhibitor antidepressants treatment. For each of them we will discuss the pathophysiological mechanism leading to bone fragility as well as the recommendations of prevention / management to be proposed in case of absolute necessity of the treatment...
March 8, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28713755/tumor-induced-osteomalacia-a-sherlock-holmes-approach-to-diagnosis-and-management
#9
G V Chanukya, Manoj Mengade, Jagadishwar Goud, I Satish Rao, Anuj Jain
Tumor-induced osteomalacia (TIO) is a subtype of paraneoplastic syndrome associated with hypophosphatemia due to renal phosphate wasting in adults. The humoral factor responsible for clinical picture known as fibroblast growth factor 23 (FGF23) is most often secreted by benign yet elusive mesenchymal tumors, difficult to localize, access, and excise completely; rarely, they are multiple and malignant. Paradoxical inappropriately normal or low levels of 1,25-dihydroxyvitamin D in the setting of hypophosphatemia is due to suppressive effect of FGF23...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28703220/tumour-induced-osteomalacia
#10
REVIEW
Salvatore Minisola, Munro Peacock, Seijii Fukumoto, Cristiana Cipriani, Jessica Pepe, Sri Harsha Tella, Michael T Collins
Tumour-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic disorder caused by tumours that secrete fibroblast growth factor 23 (FGF23). Owing to the role of FGF23 in renal phosphate handling and vitamin D synthesis, TIO is characterized by decreased renal tubular reabsorption of phosphate, by hypophosphataemia and by low levels of active vitamin D. Chronic hypophosphataemia ultimately results in osteomalacia (that is, inadequate bone mineralization). The diagnosis of TIO is usually suspected when serum phosphate levels are chronically low in the setting of bone pain, fragility fractures and muscle weakness...
July 13, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28703216/tumour-induced-osteomalacia
#11
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
July 13, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28692172/effect-of-monthly-high-dose-vitamin-d-on-bone-density-in-community-dwelling-older-adults-sub-study-of-a-randomized-controlled-trial
#12
Ian R Reid, Anne M Horne, Borislav Mihov, Gregory D Gamble, Fadiya Al-Abuwsi, Manisha Singh, Lucie Taylor, Sheryl Fenwick, Carlos A Camargo, Alistair W Stewart, Robert Scragg
BACKGROUND: Severe vitamin D deficiency causes osteomalacia, yet trials of vitamin D supplementation in the community have not on average demonstrated benefit to bone mineral density (BMD) or fracture risk in adults. OBJECTIVE: To determine whether monthly high-dose vitamin D supplementation influences BMD in the general population and in those with low 25-hydroxyvitamin D levels. METHODS: 2-year sub-study of a trial in older community-resident adults...
July 10, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/28689456/chest-deformity-and-disability-due-to-tenofovir-induced-hypophosphatemic-osteomalacia-case-report-and-call-for-improved-global-access-to-laboratory-testing
#13
Jan Hajek, Simple Ouma, Juliya Hemmett, Rob Starko, Paska Apiyo
Millions of people worldwide take tenofovir disoproxil fumarate (TDF) for the treatment of human immunodeficiency virus (HIV) and/or hepatitis B infection. Although generally safe and well tolerated, clinicians need to be aware that TDF can cause proximal renal tubular dysfunction and loss of bone mineral density, especially in patients with concomitant renal disease or other risk factors. We present the case of a patient with chronic HIV infection and urethral stricture who developed TDF-related proximal renal tubular dysfunction with hypophosphatemia and osteomalacia, presenting with bone pains, skeletal deformity, and disability...
January 1, 2017: Journal of the International Association of Providers of AIDS Care
https://www.readbyqxmd.com/read/28660378/mineral-metabolism-abnormalities-in-patients-with-prostate-cancer-a-systematic-case-controlled-study
#14
Francesco Minisola, Cristiana Cipriani, Luciano Colangelo, Mirella Cilli, Alessandro Sciarra, Magnus Von Heland, Luciano Nieddu, Emanuela Anastasi, Roberto Pascone, Valeria Fassino, Daniele Diacinti, Flavia Longo, Salvatore Minisola, Jessica Pepe
PURPOSE: Prostate cancer is the most common tumor in men. To the best of our knowledge a systematic assessment of bone and mineral abnormalities has not been performed in prostatic cancer patients consecutively enrolled. METHODS: This study was therefore carried out to investigate changes of skeletal and mineral metabolism in patients with prostate cancer (n  = 69). A population of patients with cancer of various origin was also investigated as a control group (n  = 53), since a comparison with non-prostate cancer patients has not been previously reported...
June 28, 2017: Endocrine
https://www.readbyqxmd.com/read/28642672/multifocal-osteonecrosis-secondary-to-occupational-exposure-to-aluminum
#15
Jorge Henrique Assunção, Eduardo Angeli Malavolta, Mauro Emilio Conforto Gracitelli, Renée Zon Filippi, Arnaldo Amado Ferreira
Multifocal osteonecrosis is a rare disease; chronic use of corticosteroids is considered the main risk factor. Patients with chronic renal failure can develop aluminum toxicity, which can lead to osteomalacia and encephalopathy. An association between osteonecrosis and aluminum toxicity has been reported among patients with dialytic renal insufficiency. Occupational exposure to aluminum rarely causes lung disease and no cases of bone lesions resulting from exposure to this metal have been reported. In this manuscript, we describe a novel case of a patient with multifocal osteonecrosis associated with chronic occupational exposure to aluminum...
May 2017: Acta Ortopedica Brasileira
https://www.readbyqxmd.com/read/28620422/special-considerations-for-vitamin-d-in-the-south-asian-population-in-the-uk
#16
REVIEW
Nicola M Lowe, Issak Bhojani
The human requirement for vitamin D is achieved primarily through the synthesis of this prehormone in the skin during exposure to ultraviolet B (UVB) radiation, with only a minor contribution from the diet, year round. Achieving optimal vitamin D status is therefore largely dependent upon adequate exposure of the skin to sunlight, however, the length of exposure required varies with latitude and season, and is also dependent upon skin pigmentation, with darker skin requiring greater exposure than fair skin due to the protective effects of melanin against UVB radiation...
June 2017: Therapeutic Advances in Musculoskeletal Disease
https://www.readbyqxmd.com/read/28614212/phosphaturic-mesenchymal-tumors-clinicopathologic-immunohistochemical-and-molecular-analysis-of-22-cases-expanding-their-morphologic-and-immunophenotypic-spectrum
#17
Abbas Agaimy, Michael Michal, Simion Chiosea, Fredrik Petersson, Ladislav Hadravsky, Glenn Kristiansen, Raymund E Horch, Jan Schmolders, Arndt Hartmann, Florian Haller, Michal Michal
Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm of uncertain histogenesis that has been linked to tumor-induced osteomalacia (TIO) since 1959. The neoplastic cells produce increased amount of FGF23 which results in TIO via uncontrolled renal loss of phosphate (phosphaturia), and consequently diminished bone mineralization. To date, ∼300 cases have been reported. Although there is increasing evidence that PMT can be diagnosed by reproducible histopathologic features, firm diagnosis has been often restricted to cases associated with TIO and, hence, diagnosis of "nonphosphaturic variants" remained challenging...
June 13, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28612338/nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#18
REVIEW
Suma Uday, Wolfgang Högler
PURPOSE OF REVIEW: Nutritional rickets and osteomalacia are common in dark-skinned and migrant populations. Their global incidence is rising due to changing population demographics, failing prevention policies and missing implementation strategies. The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (rickets, osteomalacia and muscle weakness) complications. This article reviews sustainable prevention strategies and identifies areas for future research...
June 13, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28609017/clinical-aspects-of-magnesium-physiology-in-patients-on-dialysis
#19
REVIEW
Paraish S Misra, Sharon J Nessim
Magnesium balance is infrequently discussed in the dialysis population, and the clinical consequences of derangements in magnesium homeostasis are incompletely understood. There is an association between hypomagnesemia and adverse outcomes including increases in cardiovascular disease and mortality, while elevated magnesium levels have also been linked with complications such as osteomalacia. In this review, we discuss the features of magnesium physiology relevant to dialysis patients and provide an updated summary of the literature linking magnesium derangements with bone disease, cardiovascular disease, sudden cardiac death, and mortality...
June 13, 2017: Seminars in Dialysis
https://www.readbyqxmd.com/read/28603080/a-novel-auditory-ossicles-membrane-and-the-development-of-conductive-hearing-loss-in-dmp1-null-mice
#20
Kun Lv, Haiyang Huang, Xing Yi, Mark E Chertoff, Chaoyuan Li, Baozhi Yuan, Robert J Hinton, Jian Q Feng
Genetic mouse models are widely used for understanding human diseases but we know much less about the anatomical structure of the auditory ossicles in the mouse than we do about human ossicles. Furthermore, current studies have mainly focused on disease conditions such as osteomalacia and rickets in patients with hypophosphatemia rickets, although the reason that these patients develop late-onset hearing loss is unknown. In this study, we first analyzed Dmp1 lac Z knock-in auditory ossicles (in which the blue reporter is used to trace DMP1 expression in osteocytes) using X-gal staining and discovered a novel bony membrane surrounding the mouse malleus...
June 8, 2017: Bone
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