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https://www.readbyqxmd.com/read/28515613/secondary-sjogren-s-syndrome-presenting-with-distal-tubular-acidosis-and-quadriparesis
#1
Kartik Munta, Manimala Rao Surath, K Seshikiran
A 52-year-old female patient was admitted to Intensive Care Unit with complaints of quadriparesis. Investigations revealed distal renal tubular acidosis (DRTA) secondary to Sjogren's syndrome with involvement of the parotid and thyroid glands. Laboratory investigations showed hyperchloremic metabolic acidosis and an alkaline urine pH with clinical signs of sicca syndrome. Sjogren's syndrome is associated with DRTA and occurrences of quadriparetic hypokalemia, nephrolithiasis, and osteomalacia can be prevented with early diagnosis and lifelong treatment with potassium and alkali replacement...
April 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28495360/fractures-and-osteomalacia-in-a-patient-treated-with-frequent-home-hemodialysis
#2
Mark R Hanudel, Larry Froch, Barbara Gales, Harald Jüppner, Isidro B Salusky
Bone deformities and fractures are common consequences of renal osteodystrophy in the dialysis population. Persistent hypophosphatemia may be observed with more frequent home hemodialysis regimens, but the specific effects on the skeleton are unknown. We present a patient with end-stage renal disease treated with frequent home hemodialysis who developed severe bone pain and multiple fractures, including a hip fracture and a tibia-fibula fracture complicated by nonunion, rendering her nonambulatory and wheelchair bound for more than a year...
May 9, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28469928/effective-localization-in-tumor-induced-osteomalacia-using-68-ga-dotatoc-pet-ct-venous-sampling-and-3t-mri
#3
Shintaro Kawai, Hiroyuki Ariyasu, Yasushi Furukawa, Reika Yamamoto, Shinsuke Uraki, Ken Takeshima, Kenji Warigaya, Yuji Nakamoto, Takashi Akamizu
SUMMARY: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting leading to hypophosphatemia due to excessive actions of fibroblast growth factor 23 (FGF23) produced by the tumors. Although the best way of curing TIO is complete resection, it is usually difficult to detect the culprit tumors by general radiological modalities owing to the size and location of the tumors. We report a case of TIO in which the identification of the tumor by conventional imaging studies was difficult...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28459498/octreotide-is-ineffective-in-treating-tumor-induced-osteomalacia-results-of-a-short-term-therapy
#4
Diana Ovejero, Diala El-Maouche, Beth A Brillante, Azar Khosravi, Rachel I Gafni, Michael T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome in which unregulated hypersecretion of fibroblast growth factor 23 (FGF23) by phosphaturic mesenchymal tumors (PMT) causes renal phosphate wasting, hypophosphatemia, and osteomalacia. The resulting mineral homeostasis abnormalities and skeletal manifestations can be reversed with surgical resection of the tumor. Unfortunately, PMTs are often difficult to locate, and medical treatment with oral phosphate and vitamin D analogues is either insufficient to manage the disease or not tolerated...
April 29, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28457494/vitamin-d-status-and-the-host-resistance-to-infections-what-it-is-currently-not-understood
#5
Pierre Olivier Lang, Richard Aspinall
PURPOSE: Vitamin D is increasingly thought to play a role in regulating immunity. This comprehensive review updates the current understanding regarding ways in which we believe that vitamin D regulates responsiveness of the immune system and how serum status modulates the host defense against pathogens. METHODS: The literature was searched by using PubMed and Scopus with the following key words: vitamin D, immunity, innate and adaptive immunity, infectious disease, and vaccine response...
April 27, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28450684/the-diagnostic-dilemma-of-tumor-induced-osteomalacia-a-retrospective-analysis-of-144-cases
#6
Juan Feng, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Li Huo, Fang Li, Wei Yu, Ding-Rong Zhong, Jin Jin, Yong Liu, Fang Qi, Wei Lv, Lian Zhou, Xun-Wu Meng, Wei-Bo Xia
Diagnostic delay of tumor induced osteomalacia (TIO) is common in clinic practice. To investigate the diagnostic condition of TIO in China and raise clinicians' awareness of TIO, we retrospectively analyzed clinical manifestations, biochemical features, and specially evaluated missed diagnoses and misdiagnoses among 144 TIO patients from Peking Union Medical College Hospital during December 1982 to December 2014. Clinical presentations of TIO mainly included bone pain, difficulty in walking, pathological fractures, muscle weakness, and height loss...
April 26, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28445300/malignant-phosphaturic-mesenchymal-tumor-with-pulmonary-metastasis-a-case-report
#7
Shui Qiu, Li-Li Cao, Yue Qiu, Ping Yan, Zi-Xuan Li, Jiang Du, Li-Mei Sun, Qing-Fu Zhang
RATIONALE: Phosphaturic mesenchymal tumor (PMT) is a new tumor entity of soft tissue and bone tumor recently accepted by the World Health Organization, which typically causes the paraneoplastic syndrome of tumor-induced osteomalacia (TIO). The majority of PMTs follow a benign clinical course and local recurrence occurs in < 10% of cases, malignant PMTs with distant organ metastasis are extremely uncommon. PATIENT CONCERNS: We reported a 41-year-old woman who was diagnosed with PMT 10 years ago with a repeated recurrence and pulmonary metastasis...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28431446/-vitamin-d-in-clinic-and-practice
#8
Armin Zittermann, Stefan Pilz
Vitamin D is unique among the vitamins, since its major source is skin synthesis by solar UVB exposure, whereas dietary intake plays only a minor role. In the general population, cutaneous vitamin D synthesis is clearly below the recommended amount. Dietary vitamin D does not fill this gap. Severe vitamin D deficiency results in rickets in infants and osteomalacia in adults. In the absence of endogenous vitamin D synthesis (e. g. during winter), oral supplements should ensure adequate daily vitamin D intake, where appropriate...
April 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28425622/targeted-disruption-of-nf1-in-osteocyte-increases-fgf23-and-osteoid-with-osteomalacia-like-bone-phenotype
#9
Nobuhiro Kamiya, Ryosuke Yamaguchi, Olumide Aruwajoye, Audrey Kim, Gen Kuroyanagi, Matthew Phipps, Naga Suresh Adapala, Jian Q Feng, Harry K W Kim
Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi-system abnormalities including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the protein product of the NF1 gene, in osteocytes is largely unknown. This study investigated the role of neurofibromin in osteocytes by disrupting Nf1 under the Dmp1-promoter. The conditional knockout (Nf1 cKO) mice displayed serum profile of a metabolic bone disorder with an osteomalacia-like bone phenotype...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28399017/iron-induced-hypophosphatemia-an-emerging-complication
#10
Heinz Zoller, Benedikt Schaefer, Bernhard Glodny
PURPOSE OF REVIEW: Iron-induced hypophosphatemia is a well documented side-effect but associated complications are largely neglected, because the results from single dosing studies suggest that transient decreases in plasma phosphate concentrations are asymptomatic and fully reversible. However, an increasing number of case reports and case series suggest that some patients develop severe and symptomatic hypophosphatemia. Long-term complications from hypophosphatemia include osteomalacia and bone fractures, which can result from repeated intravenous administration of certain high-dose iron preparations...
April 8, 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28382631/imaging-in-chronic-kidney-disease-metabolic-bone-disease
#11
Anup J Alexander, David Jahangir, Martin Lazarus, Stuart M Sprague
Musculoskeletal manifestations in chronic kidney disease (CKD) are the result of a series of complex alterations in mineral metabolism, which has been defined as chronic kidney disease - mineral and bone-related disorder (CKD-MBD). Biochemical assessment and, at times, bone biopsy remains the mainstay of disease assessment, however, radiological imaging is an important adjunct in evaluating disease severity. This review aims to illustrate the radiological features of CKD-MBD, such as secondary hyperparathyroidism, osteomalacia, adynamic bone disease, osteopenia, and extra-skeletal calcifications...
April 5, 2017: Seminars in Dialysis
https://www.readbyqxmd.com/read/28382112/the-role-of-vitamin-d-in-maintaining-bone-health-in-older-people
#12
REVIEW
Thomas R Hill, Terry J Aspray
This review summarises aspects of vitamin D metabolism, the consequences of vitamin D deficiency, and the impact of vitamin D supplementation on musculoskeletal health in older age. With age, changes in vitamin D exposure, cutaneous vitamin D synthesis and behavioural factors (including physical activity, diet and sun exposure) are compounded by changes in calcium and vitamin D pathophysiology with altered calcium absorption, decreased 25-OH vitamin D [25(OH)D] hydroxylation, lower renal fractional calcium reabsorption and a rise in parathyroid hormone...
April 2017: Therapeutic Advances in Musculoskeletal Disease
https://www.readbyqxmd.com/read/28353596/adult-onset-hypophosphatemic-osteomalacia-associated-with-sjogren-syndrome-clinical-case-report
#13
Guohua Shen, Yuwei Zhang, Shuang Hu, Bin Liu, Anren Kuang
RATIONALE: Hypophosphatemic osteomalacia (HO) is a metabolic bone disease, exhibiting different etiologies such as genetic mutation, tumor induction, dysimmunity, or renal disease. Sjogren's syndrome (SS) is a connective tissue disorder commonly involving exocrine glands; however kidney involvement is also encountered, leading to abnormal phosphorus metabolism, even HO. PATIENT CONCERNS: A 47-year-old female patient presented progressively worsening pain in the chest wall, back and bilateral lower extremities as well as muscle weakness was referred to our department...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28341900/tumor-induced-osteomalacia-experience-from-a-south-american-academic-center
#14
G González, R Baudrand, M F Sepúlveda, N Vucetich, F J Guarda, P Villanueva, O Contreras, A Villa, F Salech, L Toro, L Michea, P Florenzano
The majority of tumor-induced osteomalacia cases have been reported in the Northern Hemisphere and Asia. In this first series of South American patients, we show that the clinical presentation and sensitivity of plasmatic fibroblast growth factor 23 and somatostatin analog-based imaging are similar to those described in other populations. INTRODUCTION: Describe the experience of clinical presentation, diagnostic study, and treatment of patients with tumor-induced osteomalacia (TIO) in a South American academic center in comparison to literature...
March 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28326350/tumor-induced-osteomalacia-secondary-to-anaplastic-thyroid-carcinoma-a-case-report-and-review-of-the-literature
#15
Ejigayehu G Abate, Victor Bernet, Cherise Cortese, Hillary W Garner
CONTEXT: Tumor induced osteomalacia related to anaplastic thyroid cancer has never been reported. OBJECTIVE: We describe a case of tumor induced osteomalacia (TIO) in a patient with a fibroblast growth factor 23 (FGF-23) secreting anaplastic thyroid carcinoma. The current imaging modalities are reviewed. DESIGN AND INTERVENTION: Clinical, biochemical, and radiological assessments were done, including computer tomography (CT) of the neck and skull to thigh positron emission tomography (PET)/CT...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28326335/multiple-fractures-pain-and-severe-disability-in-a-patient-with-adult-onset-hypophosphatasia
#16
Neil A Braunstein
Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease resulting from mutations in the gene encoding tissue non-specific alkaline phosphatase. The biochemical hallmark and key diagnostic indicator is low alkaline phosphatase activity, which leads to a variety of clinical manifestations across all ages. The diagnosis is easily missed in adults, who frequently present with nonspecific clinical manifestations such as fractures, osteomalacia, and pain. Here, the pathway to diagnosis and disease course is described in an adult patient presenting with pain...
June 2016: Bone Reports
https://www.readbyqxmd.com/read/28323922/fibrogenesis-imperfecta-ossium-and-response-to-human-growth-hormone-a-potential-therapy
#17
Sanjay Kumar Bhadada, Vandana Dhiman, Soham Mukherjee, Sameer Aggarwal, Amanjit Bal, Suja P Sukumar, Ashwani Sood, Dinesh Chandra Sharma, Niranjan Khandelwal, Anil Bhansali, Wim Van Hul, Sudhaker D Rao
Context: Fibrogenesis imperfecta ossium (FIO) is a rare bone disease manifested by generalized bone pain, fragility fractures, progressive disability, and extensive mineralization defect seen in bone biopsy specimens. The pathogenesis of the disease is unknown and currently there is no effective treatment. Objective: To report on the effect of recombinant human growth hormone (rhGH) therapy in FIO. Design: An observational study in two patients...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28314685/association-of-psoriasis-and-psoriatic-arthritis-with-osteoporosis-and-pathological-fractures
#18
Parul Kathuria, Kenneth B Gordon, Jonathan I Silverberg
BACKGROUND: Previous studies examining the relationship between psoriasis (Pso), osteoporosis, and pathological fractures found conflicting results. OBJECTIVE: To determine whether Pso and psoriatic arthritis (PsA) are associated with osteoporosis and fractures in US adults. METHODS: Cross-sectional study of 198,102,435 children and adults, including 183,725 with Pso and 28,765 with PsA from the 2006-2012 National Emergency Department Sample, including 20% of the emergency care visits throughout the United States...
March 14, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28250301/tumor-induced-osteomalacia-caused-by-a-parotid-tumor
#19
Yuichi Takashi, Yuka Kinoshita, Nobuaki Ito, Manabu Taguchi, Masaaki Takahashi, Naoya Egami, Shogo Tajima, Masaomi Nangaku, Seiji Fukumoto
A 77-year-old man was suspected of having tumor-induced osteomalacia (TIO) because of hypophosphatemia (1.9 mg/dL) and elevated serum fibroblast growth factor 23 (FGF23) level (186.9 pg/mL). We detected a tumor in his left parotid gland, and the FGF23 level in the left external jugular vein indicated that the tumor overproduced FGF23. After the removal of the tumor, the serum FGF23 level rapidly decreased, and the serum phosphate normalized. This is the first case of TIO caused by a tumor in a parotid gland...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#20
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
February 24, 2017: Bone
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