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Marie Paquet, Mathieu Gauthé, Jules Zhang Yin, Valérie Nataf, Ophélie Bélissant, Philippe Orcel, Christian Roux, Jean-Noël Talbot, Françoise Montravers
PURPOSE: Oncogenic osteomalacia is an endocrine disorder induced by small benign tumours (TIO) producing excessive fibroblast growth factor-23 (FGF23). The only way of curing oncogenic osteomalacia is surgical resection of the culprit TIO, which is extremely difficult to detect using conventional imaging modalities due to its small size and variable location in the body. Since TIO frequently overexpress somatostatin receptors, a clinical utility of SPECT or PET with radiolabelled somatostatin analogues has been reported...
March 12, 2018: European Journal of Nuclear Medicine and Molecular Imaging
Seiji Fukumoto
Fibroblast growth factor 23 (FGF23) is a phosphotropic hormone mainly produced by bone. FGF23 reduces serum phosphate by suppressing intestinal phosphate absorption through reducing 1,25-dihydroxyvitamin D and proximal tubular phosphate reabsorption. Excessive actions of FG23 result in several kinds of hypophosphatemic rickets/osteomalacia including X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia. While neutral phosphate and active vitamin D are standard therapies for child patients with XLH, these medications have several limitations both in their effects and adverse events...
2018: Frontiers in Endocrinology
Kimberley N Sent-Doux, Craig Mackinnon, Jen-Chieh Lee, Andrew L Folpe, Omar Habeeb
Phosphaturic Mesenchymal Tumor (PMT) is a rare, histologically distinctive neoplasm, which classically presents with phosphaturia and tumor-induced osteomalacia (TIO) (i.e., oncogenic osteomalacia). Both the phosphaturia and TIO are due to paraneoplastic production of FGF23 (a phosphatonin) by the neoplastic cells, which are genetically characterized by rearrangements of FN1 (most often with FGFR1 - and less frequently with FGF1). However, rare cases of PMT present without phosphaturia and TIO (i.e., the "non-phosphaturic" variant) - and are therefore much more challenging to diagnose...
March 4, 2018: Human Pathology
Ling Wang, Shu Zhang, Hongli Jing, Libo Chen, Zhenghua Wang, Fang Li
Tumor-induced osteomalacia (TIO) is a chronic, devastating disease. The causative tumor is usually a small benign one that is very difficult to localize. Because the presenting symptoms include diffuse bone pain, a bone scintigraphy is commonly performed to determine the cause of the pain before TIO is suspected. In this retrospective investigation, we tried to assess whether bone scintigraphy acquired will be helpful in the eventual identification of the culprit tumor. METHODS: The images of bone scan and clinical charts of total 91 patients with confirmed TIO were retrospectively reviewed...
April 2018: Clinical Nuclear Medicine
Liping Xiao, Collin Homer-Bouthiette, Marja M Hurley
Mice overexpressing high molecular weight FGF2 isoforms (HMWTg) in osteoblast lineage phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets/osteomalacia. Since HMWFGF2 was up-regulated in bones of Hyp mice and abnormal FGF23 signaling is important in XLH, HMWTg mice were used to examine the effect of the FGF23 neutralizing antibody (FGF23Ab). Eight-week-old female Vector control mice and HMWTg mice were treated with FGF23Ab or control IgG...
March 4, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Benedicte De Muynck, Mathias Leys, Joke Cuypers, Dirk Vanderschueren, Marion Delcroix, Catharina Belge
We report the case of a 50-year-old woman with anorexigen-induced pulmonary arterial hypertension treated with epoprostenol, who presented with Trousseau's sign, leading to the diagnosis of severe hypocalcemia for which substitution was started (initially orally, followed by intravenous substitution). After further analysis, we assume that epoprostenol-induced diarrhea caused malabsorption (as other reasons were excluded), leading to nutritional osteomalacia with secondary hyperparathyroidism. We discovered that even more severe hypocalcemia was induced by the treatment with the anti-osteoporotic drug denosumab, which was started after the diagnosis of osteoporosis on bone densitometry...
2018: Respiration; International Review of Thoracic Diseases
(no author information available yet)
No abstract text is available yet for this article.
January 2018: Medicine (Baltimore)
Paul P Lerner, Laura Sharony, Chanoch Miodownik
BACKGROUND & AIMS: Vitamin D deficiency has been identified as a global problem. Approximately 14% of the world population has inadequate vitamin D levels. This vitamin has been usually associated with bone disorders such as rickets, osteomalacia, and osteoporosis. However, these disorders present only a small part of all the disturbances which can be induced by its deficiency. Low serum vitamin D is associated with development of cardiovascular diseases, hypertension, neurodegenerative diseases, diabetes mellitus, metabolic syndrome and even cancer...
February 2018: Clinical Nutrition ESPEN
Cheng Luo, Yuan-Bin Zhang, Yang-Jun Lao, Tao-Tao Xu, Hong-Ting Jin, Wei-Feng Ji, Lu-Wei Xiao, Pei-Jian Tong
No abstract text is available yet for this article.
October 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
J M Boland, P J Tebben, A L Folpe
Tumor-induced osteomalacia (TIO), also known as "oncogenic osteomalacia", is a rare cause of osteomalacia. TIO often has an insidious onset characterized clinically by progressive muscle weakness and bone pain with fractures. The hallmark biochemical finding is a persistent low serum phosphorus concentration due to renal phosphate wasting. The vast majority of cases of TIO result from production of the phosphaturic hormone fibroblast growth factor 23 (FGF23) by a histologically distinctive mesenchymal tumor, termed "phosphaturic mesenchymal tumor" (PMT)...
February 14, 2018: Journal of Endocrinological Investigation
Deep Dutta, Raghuvansh Kumar Pandey, Rakhee Gogoi, Nagender Solanki, Renu Madan, Anupam Mondal, Shruti Dogra, Pradeep Thapa
BACKGROUND: Tumor induced osteomalacia (TIO) are extremely rare paraneoplastic syndrome with less than 300 reported cases. This report highlights the pitfalls and challenges in diagnosing and localizing TIO in patients with refractory and resistant osteomalacia. PATIENT AND METHODS: 41- year gentleman with 4-year history of musculoskeletal weakness and pathologic fractures presented in wheelchair bound incapacitated state of 1-year duration. Investigations were significant for severe hypophosphatemia, severe phosphaturia, normal serum calcium, reduced 1,25-dihydroxy vitamin-D, elevated ALP, elevated intact parathyroid hormone (iPTH), and pseudo-fractures involving pelvis and bilateral femur...
February 14, 2018: Endokrynologia Polska
D Goltzman
Vitamin D, synthesized in the skin or absorbed from the diet, undergoes multi-step enzymatic conversion to its active form, 1,25-dihydroxy vitamin D [1,25(OH)2 D], followed by interaction with the vitamin D receptor (VDR), to modulate target gene expression. Loss-of function mutations in the genes encoding the enzymes regulating these processes, or in the VDR, result in human diseases, which have demonstrated the paramount role of 1,25(OH)2 D in mineral and skeletal homeostasis. Mouse genetics has been used to create disease phenocopies which have produced considerable insight into the mechanisms of 1,25(OH)2 D regulation of mineral and skeletal metabolism...
February 12, 2018: Histochemistry and Cell Biology
Rolf Jorde, G Grimnes
Vitamin D is produced in the skin upon sun-exposure or obtained through the diet. Vitamin D is hydroxylated to 25-hydroxyvitamin D (25(OH)D) in the liver and to the active form 1,25-dihydroxyvitamin D (1,25(OH)2 D) in the kidneys. To exert its effect 1,25(OH)2 D has to bind to the nuclear vitamin D receptor VDR. Lack of vitamin D leads to rickets in children and to osteomalacia in adults. 25(OH)D is used as a marker of a subject's vitamin D status. Low serum 25(OH)D levels are associated with a number of diseases, risk factors for disease and increased mortality...
February 2018: Medical Hypotheses
Jee Hyuk Kim, Heung Yong Jin, Hong Sun Baek, Kyung Ae Lee
No abstract text is available yet for this article.
January 2018: Chonnam Medical Journal
Weiqian Wu, Chongyang Wang, Jianwei Ruan, Feng Chen, Ningjun Li, Fanghu Chen
RATIONALE: Tumor-induced osteomalacia (TIO) is a rare and often misdiagnosed syndrome. Surgical resection is currently the first line treatment for TIO. PATIENT CONCERNS: Here we report the case of a 49-year-old woman presented with intermittent pain in the right chest and bilateral hip that had persisted for over two years. DIAGNOSES: She was diagnosed of TIO caused by a phosphaturic mesenchymal tumor based on the following examinations. Laboratory tests revealed high serum alkaline phosphatase, high urinary phosphorus, hypophosphatemia and normal serum calcium levels...
December 2017: Medicine (Baltimore)
Yuka Kinoshita, Seiji Fukumoto
Phosphate plays essential roles in many biological processes, and the serum phosphate level is tightly controlled. Chronic hypophosphatemia causes impaired mineralization of the bone matrix and results in rickets and osteomalacia. Fibroblast growth factor 23 (FGF23) is a bone-derived hormone that regulates phosphate metabolism. FGF23 excess induces hypophosphatemia via impaired phosphate reabsorption in the renal proximal tubules and decreased phosphate absorption in the intestines. There are several types of genetic and acquired form of FGF23-related hypophosphatemic diseases...
January 26, 2018: Endocrine Reviews
Yan Geng, Youlu Zhao, Zhuoli Zhang
The Funding statement was omitted from the original publication; the authors have requested that this be noted and now presented in this article.
January 29, 2018: Clinical Rheumatology
J A Berglund, R I Gafni, F Wodajo, E W Cowen, D El-Maouche, R Chang, C C Chen, L C Guthrie, A A Molinolo, M T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. We present a patient with TIO who also exhibited clinical findings suggestive of Cowden syndrome (CS), a rare autosomal dominant disorder characterized by numerous benign hamartomas, as well as an increased risk for multiple malignancies, such as thyroid cancer...
January 29, 2018: Osteoporosis International
Barbieri Anna Maria, Chiodini Iacopo, Ragni Enrico, Colaianni Graziana, Gadda Franco, Locatelli Marco, Lampertico Pietro, Spada Anna Maria, Eller-Vainicher Cristina
Tenofovir disoproxil fumarate (TDF) is an antiretroviral drug commonly used for the management of Human Immunodeficiency Virus (HIV) in highly active antiretroviral therapy (HAART) and of chronic Hepatitis B Virus (HBV) infections. Long-term TDF-treated subjects present decrease of bone mineral density and rarely severe osteomalacia. Although these adverse effects have been attributed to the impaired proximal tubule function, a possible direct involvement of TDF on osteoblasts should be taken into account. The aim of this study was to evaluate whether sodium phosphate transporters NPT2A (sodium-dependent phosphate transport protein 2A), NPT2C (sodium-dependent phosphate transport protein 2C), PIT1 (sodium-dependent phosphate transporter 1) and PIT2 (sodium-dependent phosphate transporter 2) were expressed in primary human osteoblasts (HOBs), whether their expression was related to HOBs differentiation and whether TDF could affect mineralization and gene expression...
January 24, 2018: Journal of Cellular Biochemistry
Michael P Whyte, Stephen P Coburn, Lawrence M Ryan, Karen L Ericson, Fan Zhang
Hypophosphatasia (HPP) is the inborn-error-of-metabolism due to loss-of-function mutation(s) of the ALPL (TNSALP) gene that encodes the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). TNSALP represents a family of cell-surface phosphohydrolases differing by post-translational modification that is expressed especially in the skeleton, liver, kidney, and developing teeth. Thus, the natural substrates of TNSALP accumulate extracellularly in HPP including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B6...
January 19, 2018: Bone
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