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https://www.readbyqxmd.com/read/29326807/heavy-chain-diseases-and-myeloma-associated-fanconi-syndrome-an-update
#1
REVIEW
Roberto Ria, Franco Dammacco, Angelo Vacca
The heavy chain diseases (HCDs) are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain. There are three types of HCD, defined by the class of immunoglobulin heavy chain produced: IgA (α-HCD), IgG (γ-HCD), and IgM (μ-HCD). Alpha-HCD is the most common and usually occurs as intestinal malabsorption in a young adult from a country of the Mediterranean area. Gamma- and μ-HCDs are rarer and associated with a B-cell non-Hodgkin lymphoma that produces an abnormal Ig heavy chain...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29319792/oncogenic-osteomalacia
#2
Anand K Annamalai, Anthony J Gill, Ajit Shinto, R Sivakumar, Prahlad Kumar Singhi, V A Prabhu, Subbiah Sridhar, Radhakrishnan Shanthi, Vipla Puri, N Gururaj, Chandrasekhar Gopalakrishnan, Mathirajan Chelian, K G Srinivasan, Roderick Clifton-Bligh, Mark Gurnell
No abstract text is available yet for this article.
January 8, 2018: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29314669/vitamin-d-deficiency-is-associated-with-tibial-bone-pain-and-tenderness-a-possible-contributive-role
#3
Mansour Babaei, Mehdi Esmaeili Jadidi, Behzad Heidari, Hemmat Gholinia
BACKGROUND: Vitamin D deficiency is associated with osteomalacia and a variety of musculoskeletal pain. This study aimed to determine the association of vitamin D deficiency with tibial bone pain and tenderness. METHODS: Patients with leg pain, defined as local pain and tenderness over tibial bones for ≥ 6 weeks were consecutively selected. Secondary causes of pain were excluded by appropriate clinical, radiological and laboratory examinations. Serum 25-hydroxyvitamin D (25-OHD) was assessed by enzyme-linked immunosorbent assay method and levels < 20 ng/mL were considered as deficiency...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29298794/severe-fgf23-based-hypophosphataemic-osteomalacia-due-to-ferric-carboxymaltose-administration
#4
Klara Klein, Shonda Asaad, Michael Econs, Janet E Rubin
Ferric carboxymaltose (FCM) is a novel iron formulation increasingly prescribed due to its effectiveness and fast infusion time. FCM administration can cause an asymptomatic hypophosphataemia secondary to fibroblast growth factor 23 (FGF23) dysregulation. In patients with chronic iron needs, however, a severe, long-lasting hypophosphataemia can lead to osteomalacia with associated bone pain. Lack of awareness of this complication results in delayed time to diagnosis and significant morbidity. We report a case of a patient with Crohn's disease and chronic iron-deficiency anaemia receiving multiple doses of FCM who developed severe hypophosphataemic osteomalacia with urinary phosphate loss and increased FGF23...
January 3, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29296561/an-analysis-of-the-combination-frequencies-of-constituent-medicinal-herbs-in-prescriptions-for-the-treatment-of-bone-and-joint-disorder-in-korean-medicine-determination-of-a-group-of-candidate-prescriptions-for-universal-use
#5
Yoo Kyoung Han, Seo Yul Kim, Jae Young Ahn, Jin Ung Baek
Background: This study aimed to select prescriptions (mixtures of medicinal herbs) used in the treatment of bone and joint disorders in Korean medicine, and through the analysis of medicinal herb combination frequencies, select a high-frequency medicinal herb combination group for further experimental and clinical research. Methods: We systematically searched for terms related to bone and joint disorder in the "Dongeuibogam (Dong yibaojian)", a seminal Korean medicine book...
December 2017: Integrative Medicine Research
https://www.readbyqxmd.com/read/29295788/clinical-significance-of-increased-serum-levels-of-fgf-23-in-fibrous-dysplasia
#6
Helena Florez, Stanislava Mandelikova, Xavier Filella, Ana Monegal, Núria Guañabens, Pilar Peris
INTRODUCTION AND OBJECTIVE: Fibrous dysplasia (FD) can be associated with the development of hypophosphatemic osteomalacia, caused by the production of FGF-23 by dysplastic bone tissue. This study analysed FGF-23 levels in patients with FD, and their association with disease activity and serum phosphate values. PATIENTS AND METHODS: Twelve adult patients with FD were included in the study. Clinical history, disease extension and activity and treatments received were reviewed, and the relationship of those values with FGF-23 and serum P levels was analysed...
December 30, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29244678/oncogenic-osteomalacia-secondary-to-a-metastatic-phosphaturic-mesenchymal-tumor-in-the-talus-a-case-report-and-review-of-the-literature
#7
Keith T Aziz, Edward F McCarthy, Carol D Morris
CASE: We report the case of a 50-year-old woman with oncogenic osteomalacia secondary to a metastatic phosphaturic mesenchymal tumor (PMT) that presented, to our knowledge, with the first reported lesion in the talus. CONCLUSION: Oncogenic osteomalacia is a rare condition with a unique serum biochemical profile that requires a high index of suspicion for diagnosis. A PMT is a rare neoplasm that can lead to oncogenic osteomalacia through secretion of fibroblast growth factor 23...
April 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29236161/genetic-analysis-of-adults-heterozygous-for-alpl-mutations
#8
Agnès Taillandier, Christelle Domingues, Annika Dufour, Françoise Debiais, Pascal Guggenbuhl, Christian Roux, Catherine Cormier, Bernard Cortet, Valérie Porquet-Bordes, Fabienne Coury, David Geneviève, Jean Chiesa, Thierry Colin, Elaine Fletcher, Agnès Guichet, Rose-Marie Javier, Michel Laroche, Michael Laurent, Ekkehart Lausch, Bruno LeHeup, Cédric Lukas, Georg Schwabe, Ineke van der Burgt, Christine Muti, Brigitte Simon-Bouy, Etienne Mornet
Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene. Patients have consistently low serum alkaline phosphatase (AP), so that this parameter is a good hallmark of the disease. Adult HPP is heterogeneous, and some patients present only mild nonpathognomonic symptoms which are also common in the general population such as joint pain, osteomalacia and osteopenia, chondrocalcinosis, arthropathy and musculoskeletal pain...
December 13, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29207224/-bone-biopsy-in-the-chronic-kidney-disease-ckd
#9
REVIEW
Luca Dalle Carbonare, Maria Teresa Valenti
Histomorphometry or quantitative histology is the analysis on histologic sections of bone resorption, formation and structure parameters. It is the only technique allowing a dynamic evaluation of osteoblast activity after labelling with tetracycline. In addition, the use of computed image analyzer allows the possibility to assess bone microarchitecture. Histomorphometric bone biopsy is a reliable and well-tolerated procedure. Bone samples are taken at iliac crest level under local anesthesia and sedation. Samples are put into methyl-metacrilate resin where the sections are prepared for the microscopic analysis of different histomorphometric parameters...
December 5, 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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