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https://www.readbyqxmd.com/read/28431446/-vitamin-d-in-clinic-and-practice
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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-novel-therapy
#10
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 on bone biopsy. 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. Setting: Endocrinology Clinic in an Academic Institution Patients or Other Participants: Two siblings with FIO Intervention(s): rhGH was administered subcutaneously at a dose of 1U daily for one year...
February 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28314685/association-of-psoriasis-and-psoriatic-arthritis-with-osteoporosis-and-pathological-fractures
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#14
Rafiu Ariganjoye
Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28219093/-impact-of-vitamin-d-in-sports-does-vitamin-d-insufficiency-compromise-athletic-performance
#15
Sebastian Butscheidt, Tim Rolvien, Peter Ueblacker, Michael Amling, Florian Barvencik
Introduction Vitamin D is essential for calcium homeostasis and regulates the expression of over 900 genes. It thereby influences musculoskeletal health and function. Additionally, multiple other effects were observed through the detection of vitamin D receptors (VDR) in numerous tissues of the human body. Material and Methods We reviewed the literature regarding evidence of the impact of vitamin D on musculoskeletal health and peak athletic performance. Results and Discussion It is well known that there is a high prevalence of vitamin D deficiency in the average European population...
January 2017: Sportverletzung Sportschaden: Organ der Gesellschaft Für Orthopädisch-Traumatologische Sportmedizin
https://www.readbyqxmd.com/read/28203361/long-term-iron-polymaltose-infusions-associated-with-hypophosphataemic-osteomalacia-a-report-of-two-cases-and-review-of-the-literature
#16
REVIEW
Ramy H Bishay, Kirtan Ganda, Markus J Seibel
Iron-induced hypophosphataemic osteomalacia remains under-recognized as a potential complication of parenteral iron therapy. We here report two cases of symptomatic hypophosphataemic osteomalacia with multiple insufficiency fractures in the context of chronic gastrointestinal blood loss, necessitating monthly iron polymaltose infusions over prolonged periods of time. Respective blood tests revealed severe hypophosphataemia [0.29 and 0.43; normal range (NR) 0.8-1.5 mmol/l] in the presence of normal serum calcium and 25-hydroxy vitamin D levels...
January 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28193220/a-rare-case-of-multiple-phosphaturic-mesenchymal-tumors-along-a-tendon-sheath-inducing-osteomalacia
#17
Ryuta Arai, Tomohiro Onodera, Mohamad Alaa Terkawi, Tomoko Mitsuhashi, Eiji Kondo, Norimasa Iwasaki
BACKGROUND: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, hypophosphatemia, reduction of 1,25-dihydroxyl vitamin D, and bone calcification disorders. Tumors associated with TIO are typically phosphaturic mesenchymal tumors that are bone and soft tissue origin and often present as a solitary tumor. The high production of fibroblast growth factor 23 (FGF23) by the tumor is believed to be the causative factor responsible for the impaired renal tubular phosphate reabsorption, hypophosphatemia and osteomalacia...
February 13, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28182049/tumor-induced-hypophosphatemia
#18
M Mulani, K Somani, S Bichu, V Billa
Significant hypophosphatemia is commonly due to Vitamin D deficiency. Any sporadic onset of hypophosphatemia in adults warrants workup to identify alternate causes. Hypophosphatemia may also be the only manifestation of an occult malignancy. A high index of clinical suspicion can help diagnose such conditions in early stages. Prompt treatment of the cause can correct this biochemical abnormality. We describe a case report of a woman presenting with severe hypophosphatemia and osteomalacia, leading eventually to the diagnosis of a phosphaturic mesenchymal tumor of the temporo-occipital bone...
January 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28181822/oncogenic-osteomalacia-role-of-ga-68-dotanoc-pet-ct-scan-in-identifying-the-culprit-lesion-and-its-management
#19
Deepa Singh, Aditi Chopra, Mudalsha Ravina, Srikant Kongara, Eesh Bhatia, Narvesh Kumar, Sushil Gupta, Subhash Yadav, Preeti Dabadghao, Rajnikant Yadav, Veeresh Dube, Utham Kumar, Manish Dixit, Sanjay Gambhir
OBJECTIVE: The aim of this study was to evaluate the role of (68)Ga-DOTANOC positron emission tomography (PET)/CT scan in localization of culprit lesion for biopsy and required intervention [surgical excision/radiofrequency ablation (RFA)] in patients with long-standing oncogenic osteomalacia (OOM)/tumour-induced osteomalacia. METHODS: 17 patients (8 males and 9 females) underwent (68)Ga-DOTANOC PET/CT scan. The patients referred with clinical and biochemical evidence of hypophosphatemia and raised fibroblast growth factor-23...
April 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28180054/anterior-skull-base-glomangioma-induced-osteomalacia
#20
Malia S Gresham, Steven Shen, Yi J Zhang, Kelly Gallagher
Oncogenic osteomalacia (OO) is an uncommon but treatable cause of osteomalacia related to tumor production of FGF23, usually caused by benign mesenchymal neoplasms. Paranasal sinus glomangiomas are a rare cause of OO, with only one previously reported case. Here we describe a second case (first reported in English) of paranasal sinus glomangioma-induced osteomalacia in a 42-year-old man. He presented with weakness and multiple spontaneous fractures, and was found to have an ethmoid sinus glomangioma with intracranial extension...
January 2017: Journal of Neurological Surgery Reports
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