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https://www.readbyqxmd.com/read/29143140/impact-of-conventional-medical-therapy-on-bone-mineral-density-and-bone-turnover-in-adult-patients-with-x-linked-hypophosphatemia-a-6-year-prospective-cohort-study
#1
Vikram Vinod Shanbhogue, Stinus Hansen, Niklas Rye Jørgensen, Signe Sparre Beck-Nielsen
X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim of this 6-year prospective study was to determine the impact of conventional medical treatment on areal bone mineral density (aBMD), bone turnover markers (BTMs) and measures of calcium homeostasis in 27 adult patients with XLH, 11 of whom received medical treatment...
November 15, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29124435/vitamin-d-deficiency-an-unrecognized-cause-of-flank-pain
#2
Dina O Abdulazim, Mona M Salem, Mohammed Hassan, Ahmed Abdo, Esam Rashad, Usama A A Sharaf El Din
Loin pain is frequently not associated with any urinary abnormality. Musculoskeletal abnormalities are not uncommon as alternative cause of flank pain. Osteomalacia of the ribs was infrequently encountered as the cause of flank pain. Vitamin D deficiency has been reported as a common problem worldwide with special predilection to the Middle East area. In this study, we looked for vitamin D deficiency in patients with flank pain associated with tenderness over the tips of the lowermost ribs. Out of 783 patients presenting with unilateral or bilateral flank pain to a single center over a period of 3 years, 316 did not have a definite urologic cause (group B)...
November 9, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29114374/prevention-of-chemotherapy-induced-nephrotoxicity-in-children-with-cancer
#3
REVIEW
Fatemeh Ghane Sharbaf, Hamid Farhangi, Farahnak Assadi
Children with cancer treated with cytotoxic drugs are frequently at risk of developing renal dysfunction. The cytotoxic drugs that are widely used for cancer treatment in children are cisplatin (CPL), ifosfamide (IFO), carboplatin, and methotrexate (MTX). Mechanisms of anticancer drug-induced renal disorders are different and include acute kidney injury (AKI), tubulointerstitial disease, vascular damage, hemolytic uremic syndrome (HUS), and intrarenal obstruction. CPL nephrotoxicity is dose-related and is often demonstrated with hypomagnesemia, hypokalemia, and impaired renal function with rising serum creatinine and blood urea nitrogen levels...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29104808/the-foot-that-broke-both-hips-a-case-report-and-literature-review-of-tumor-induced-osteomalacia
#4
Sara Beygi, Alfred Denio, Tarun S Sharma
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by hypophosphatemia and clinical symptoms of osteomalacia. Only discussed as case reports, there is still limited knowledge of this condition as a potentially curable cause of osteomalacia among clinicians and pathologists. In this article, we present a case of tumor-induced osteomalacia in a 59-year-old gentleman followed by an up-to-date review of the existing literature on TIO.
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29101648/intestinal-regulation-of-calcium-vitamin-d-and-bone-physiology
#5
Sylvia Christakos, Vaishali Veldurthy, Nishant Patel, Ran Wei
The principal function of vitamin D in the maintenance of calcium homeostasis is to increase intestinal calcium absorption. This conclusion was made from studies in vitamin D receptor (VDR) null mice which showed that rickets and osteomalacia were prevented when VDR null mice were fed a rescue diet that included high calcium, indicating that the skeletal abnormalities of the VDR null mice are primarily the result of impaired intestinal calcium absorption. Although vitamin D is critical for controlling intestinal calcium absorption, the mechanisms involved have remained incomplete...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29083055/hormonal-regulation-of-osteocyte-perilacunar-and-canalicular-remodeling-in-the-hyp-mouse-model-of-x-linked-hypophosphatemia
#6
Danielle Tokarz, Janaina S Martins, Elizabeth T Petit, Charles P Lin, Marie B Demay, Eva S Liu
Osteocytes remodel their surrounding perilacunar matrix and canalicular network to maintain skeletal homeostasis. Perilacunar/canalicular remodeling is also thought to play a role in determining bone quality. X-linked hypophosphatemia (XLH) is characterized by elevated serum fibroblast growth factor 23 (FGF23) levels, resulting in hypophosphatemia and decreased production of 1,25 dihydroxyvitamin D (1,25D). In addition to rickets and osteomalacia, long bones from mice with XLH (Hyp) have impaired whole-bone biomechanical integrity accompanied by increased osteocyte apoptosis...
October 30, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29080646/the-use-of-vitamin-d-metabolites-and-analogues-in-the-treatment-of-chronic-kidney-disease
#7
REVIEW
Ladan Zand, Rajiv Kumar
Chronic kidney disease (CKD) and end-stage renal disease (ESRD) are associated with abnormalities in bone and mineral metabolism, known as CKD-bone mineral disorder. CKD and ESRD cause skeletal abnormalities characterized by hyperparathyroidism, mixed uremic osteodystrophy, osteomalacia, adynamic bone disease, and frequently enhanced vascular and ectopic calcification. Hyperparathyroidism and mixed uremic osteodystrophy are the most common manifestations due to phosphate retention, reduced concentrations of 1,25-dihydroxyvitamin D, intestinal calcium absorption, and negative calcium balance...
December 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29080644/vitamin-d-effect-on-bone-mineral-density-and-fractures
#8
REVIEW
Ian R Reid
One hundred years ago, vitamin D was identified as the cause and cure of osteomalacia. This role remains firmly established. Vitamin D influences skeletal mineralization principally through the regulation of intestinal calcium absorption. It has been proposed that vitamin D has direct beneficial effects on bone (besides the prevention of osteomalacia), but these have been difficult to establish in clinical trials. Meta-analyses of vitamin D trials show no effects on bone density or fracture risk when the baseline 25-hydroxyvitamin D is >40 nmol/L...
December 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29074835/-update-on-recent-progress-in-vitamin-d-research-treatment-of-metabolic-bone-disorders-by-vitamin-d
#9
Reiko Watanabe, Daisuke Inoue
Vitamin D is indispensable for bone health and calcium metabolism, and decreased action of vitamin D causes various abnormalities in bone metabolism. Severe vitamin D deficiency causes osteomalacia/rickets. Even milder vitamin D insufficiency could still be harmful for bone health via secondary hyperparathyroidism and bone loss, and could also lead to increased risk of falling. Osteomalacia/rickets associated with impaired vitamin D action should be treated by either native or active vitamin D3, depending on its etiology...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/29074833/-update-on-recent-progress-in-vitamin-d-research-vitamin-d-insufficiency-deficiency
#10
Ryo Okazaki
Serum 25(OH)D level reflects bodily vitamin D store. Recently published "Assessment criteria for vitamin D deficiency/insufficiency in Japan" defines vitamin D sufficiency as 25(OH)D level of 30 ng/mL or more, vitamin D insufficiency as that of 20 to 30 ng/mL, vitamin D deficiency as that of less than 20 ng/mL. The lower the serum 25(OH)D level is, the higher the risks are, of secondary hyperparathyroidism, low bone mineral density, fall, fracture, rickets/osteomalacia, and hypocalcemia, as well as lower response to anti-osteoporosis medications...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/29073294/previously-unreported-abnormalities-in-wolfram-syndrome-type-2
#11
Halis Kaan Akturk Md, Seda Yasa MSc
Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29072234/occult-metabolic-bone-disease-in-chronic-pancreatitis
#12
Kvs Hari Kumar, A K Sood, M Manrai
BACKGROUND: Chronic pancreatitis (CP) leads to malabsorption and metabolic bone disease (MBD). Alcoholic CP (ACP) and tropical CP (TCP) are the two common types of CP. OBJECTIVE: We investigated the presence of occult MBD in patients with CP and compared the same between ACP and TCP. MATERIALS AND METHODS: In this cross-sectional, observational study, we included serial patients of CP in different stages and are grouped as ACP (Group 1; n = 67) and TCP (Group 2; n = 35)...
September 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29068481/hypophosphatemia-severe-bone-pain-gait-disturbance-and-fatigue-fractures-after-iron-substitution-in-inflammatory-bowel-disease-a-case-report
#13
J Bartko, P Roschger, S Zandieh, A Brehm, J Zwerina, K Klaushofer
Intravenous infusions of different iron formulations are recognized as a cause of hypophosphatemia. Chronic hypophosphatemia can alter bone metabolism and bone material structure. As a consequence, osteomalacia may develop and lead to bone fragility. Herein, we report a patient with Crohn's disease presenting with persistent hypophosphatemia and insufficiency fractures while receiving regular iron infusions due to chronic gastrointestinal bleeding. Previously, the patient received regularly vitamin D and also zoledronic acid...
October 25, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29043208/phosphaturic-mesenchymal-tumor-pmt-exceptionally-rare-disease-yet-crucial-not-to-miss
#14
Amir Ghorbani-Aghbolaghi, Morgan Angus Darrow, Tao Wang
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...
July 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/29042903/renal-tubular-acidosis-in-patients-with-primary-sj%C3%A3-gren-s-syndrome
#15
Su Woong Jung, Eun Ji Park, Jin Sug Kim, Tae Won Lee, Chun Gyoo Ihm, Sang Ho Lee, Ju-Young Moon, Yang Gyun Kim, Kyung Hwan Jeong
Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys...
September 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29034744/correction-to-oncogenic-osteomalacia-role-of-ga-68-dotanoc-pet-ct-scan-in-identifying-the-culprit-lesion-and-its-management
#16
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
No abstract text is available yet for this article.
November 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/29026776/antiepileptic-therapy-osteomalacia-and-synchronous-fractures-don-t-lose-looser-zones
#17
Ganesh Singh Dharmshaktu
No abstract text is available yet for this article.
January 2017: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29026610/selective-blood-sampling-for-fgf-23-in-tumor-induced-osteomalacia
#18
Hans-Christof Schober, Christian Kneitz, Franziska Fieber, Kathrin Hesse, Henry Schroeder
Tumor-induced osteomalacia (TIO) is caused by the hormone fibroblast growth factor 23 (FGF-23). It is mainly produced in the tissue of mesenchymal tumors. Patients with TIO frequently suffer from a chronic decompensated pain syndrome and/or muscle weakness with postural deformity. Despite the severity of the disease, the diagnosis is frequently established late. In some cases, it takes several years to establish the condition. This case report concerning a 68-year old woman demonstrates the selective blood sampling for FGF-23 as path-breaking diagnostics to confirm the diagnosis of a neuroendocrine tumor...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29021995/tumor-induced-osteomalacia
#19
Pablo Florenzano, Rachel I Gafni, Michael T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. It is caused by tumoral overproduction of fibroblast growth factor 23 (FGF23) that acts primarily at the proximal renal tubule, decreasing phosphate reabsorption and 1α-hydroxylation of 25 hydroxyvitamin D, thus producing hypophosphatemia and osteomalacia. Lesions are typically small, benign mesenchymal tumors that may be found in bone or soft tissue, anywhere in the body...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/28982589/identification-of-a-novel-loss-of-function-phex-mutation-ala720ser-in-a-sporadic-case-of-adult-onset-hypophosphatemic-osteomalacia
#20
Katarzyna Goljanek-Whysall, Andreas Tridimas, Rachel McCormick, Nicki-Jayne Russell, Melissa Sloman, Alan Sorani, William D Fraser, Fadil M Hannan
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some cases the underlying tumor is not detected, and such patients may harbor other causes of FGF23 excess. Indeed, coding-region and 3'UTR mutations of phosphate-regulating neutral endopeptidase (PHEX), which encodes a cell-surface protein that regulates circulating FGF23 concentrations, can lead to alterations in phosphate homeostasis, which are not detected until adulthood...
October 3, 2017: Bone
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