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https://www.readbyqxmd.com/read/28932769/microrna-expression-in-a-phosphaturic-mesenchymal-tumour
#1
Darrell Green, Irina Mohorianu, Isabelle Piec, Jeremy Turner, Clare Beadsmoore, Andoni Toms, Richard Ball, John Nolan, Iain McNamara, Tamas Dalmay, William D Fraser
Phosphaturic mesenchymal tumours are a heterogeneous set of bone and soft tissue neoplasms that can cause a number of paraneoplastic syndromes such as tumour induced osteomalacia. The term phosphaturic comes from the common finding that these tumours secrete high levels of fibroblast growth factor 23 which causes renal phosphate wasting leading to hypophosphatemia. Phosphaturic mesenchymal tumours are rare and diagnosis is difficult. A very active 68 year old male presented with bone pain and muscle weakness...
December 2017: Bone Reports
https://www.readbyqxmd.com/read/28914205/vitamin-d-and-depression-the-evidence-from-an-indirect-clue-to-treatment-strategy
#2
Sok Kuan Wong, Kok Yong Chin, Soelaiman Ima-Nirwana
Depression is a common psychiatric disorder that decreases the quality of life and increases the mortality of patients. It incurs significant healthcare costs if left untreated. Even though intervention with antidepressants can reduce depressive symptoms, side effects are often an issue and relapse is very common. Vitamin D, commonly known as the sunshine vitamin, is an essential fat-soluble vitamin for the absorption of calcium to prevent rickets (children) and osteomalacia (adults). Evidence on a possible relationship between vitamin D deficiency and depression is growing...
September 13, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28880715/defective-mineralization-in-x-linked-hypophosphatemia-dental-pulp-cell-cultures
#3
B R Coyac, B Hoac, P Chafey, G Falgayrac, L Slimani, P S Rowe, G Penel, A Linglart, M D McKee, C Chaussain, C Bardet
X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a decreased serum phosphate level, which cause mineralization defects in the skeleton and teeth (osteomalacia/odontomalacia). It is not yet altogether clear whether these manifestations are caused solely by insufficient circulating phosphate availability for mineralization or also by a direct, local intrinsic effect caused by impaired PHEX activity. Here, we evaluated the local role of PHEX in a 3-dimensional model of extracellular matrix (ECM) mineralization...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28859264/adefovir-induced-fanconi-syndrome-associated-with-osteomalacia
#4
Samel Park, Woo-Il Kim, Dai-Hyun Cho, Yeo-Joo Kim, Hong-Soo Kim, Ji-Hee Kim, Seung-Kuy Cha, Kyu-Sang Park, Ji-Hye Lee, Sang Mi Lee, Eun Young Lee
Fanconi syndrome is a dysfunction of the proximal renal tubules that results in impaired reabsorption and increased urinary loss of phosphate and other solutes. The pathophysiology of drug-induced Fanconi syndrome is unclear. Here we report the case of a 36-year-old woman who presented with pain in multiple bones and proteinuria. She had a 7-year history of taking adefovir at 10 mg/day for chronic hepatitis B. Three years previously she had received surgery for a nontraumatic right femur neck fracture, after which she continued to complain of pain in multiple bones, and proteinuria, glycosuria, and phosphaturia were noted...
September 1, 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28858396/histopathological-and-genetic-review-of-phosphaturic-mesenchymal-tumours-mixed-connective-tissue-variant
#5
Yuichi Yamada, Izumi Kinoshita, Kenichi Kohashi, Hidetaka Yamamoto, Takeshi Iwasaki, Hiroshi Otsuka, Masato Yoshimoto, Shin Ishihara, Yu Toda, Yuki Kuma, Nokitaka Setsu, Yuki Koga, Yumi Honda, Takeshi Inoue, Hiroyuki Yanai, Kyoko Yamashita, Ichiro Ito, Mitsuru Takahashi, Shouichi Ohga, Masutaka Furue, Yasuharu Nakashima, Yoshinao Oda
AIMS: Phosphaturic mesenchymal tumour, mixed connective tissue variant (PMT-MCT), is a tumour of uncertain differentiation, characterised by 'smudgy/grungy' calcification and vitamin D-resistant phosphaturic osteomalacia. FGF23 is recognised as a reliable marker of PMT-MCT, but quantitative evaluation of it has never been performed. We reviewed cases of tumour-associated osteomalacia or histologically definitive PMT-MCT without osteomalacia using histological, immunohistochemical and genetic methods and evaluated the diagnostic significance of these findings...
August 31, 2017: Histopathology
https://www.readbyqxmd.com/read/28855492/multiple-pseudofractures-due-to-fanconi-s-syndrome-associated-with-wilson-s-disease
#6
Mai Tsuchiya, Ryusuke Takaki, Fumikazu Kobayashi, Takamura Nagasaka, Kazumasa Shindo, Yoshihisa Takiyama
We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs...
August 31, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28855070/can-vitamin-d-supplementation-alone-effective-to-increase-a-physical-fitness-levels-in-post-menopausal-women-with-metabolic-disorders-brief-review
#7
REVIEW
Claudio M Bentes, Monique Resende, Humberto Miranda, Claudia C Netto, Lizanka P F Marinheiro
BACKGROUND: During the climacteric period, occur an aging process of the skin, and promote several decreases in the ability of vitamin D synthesis in an organism and lower levels of Vitamin D may contribute to the appearance of conditions such as osteomalacia, osteoporosis, falls and fractures. AIM: The present brief review focuses on the influence of Vitamin D supplementation alone on physical fitness (strength, endurance, and balance) in postmenopausal with diseases or not...
August 24, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28852641/is-there-any-link-between-tumor-induced-osteomalacia-and-psoriasis-a-case-report
#8
Mojtaba Akbari, Bagher Larijani, Sasan Sharghi, Ali Jalili, Sayed Mahmoud Sajjadi-Jazi
BACKGROUND: Tumor-induced osteomalacia is an uncommon paraneoplastic syndrome caused by Fibroblast growth factor-23-secreting tumors. It is characterized by phosphaturia, hypophosphatemia, and a high plasma level of alkaline phosphatase. CASE PRESENTATION: We report a young patient with psoriasis who had suffered from bone pain and muscle weakness for more than 6.5 years. He was finally diagnosed with tumor-induced osteomalacia. However, mistakenly attributing the patient's signs and symptoms to psoriatic arthritis for a long time had resulted in multiple complications for the patient...
2017: Journal of Diabetes and Metabolic Disorders
https://www.readbyqxmd.com/read/28851305/nephrolithiasis-and-osteomalacia-associated-with-adefovir-induced-fanconi-syndrome-in-a-patient-with-hepatitis-b
#9
Jueying Lin, Yufeng Zhuo, Dongdong Zhang
BACKGROUND: An increasing number of case reports suggest that acquired renal Fanconi syndrome may be associated with prolonged use of adefovir against hepatitis B virus. Renal Fanconi syndrome is an uncommon disease, and its complication with nephrolithiasis is quite rare. Herein, we report a rare coexistence of nephrolithiasis and acquired renal Fanconi syndrome in a chronic hepatitis B-positive patient with prolonged adefovir therapy. CASE PRESENTATION: The patient presented with osteomalacia and nephrolithiasis...
August 29, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28840440/pathological-fractures-in-a-patient-with-severe-osteomalacia-and-hyperparathyroidism-a-multidisciplinary-challenge
#10
Erwin A Gorter, Anthony J C G D Kluck, Pieta Krijnen, Inger B Schipper
No abstract text is available yet for this article.
August 24, 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28836028/prevalence-and-clinical-outcomes-of-hip-fractures-and-subchondral-insufficiency-fractures-of-the-femoral-head-in-patients-with-tumour-induced-osteomalacia
#11
Hiroshi Kobayashi, Nobuaki Ito, Toru Akiyama, Tomotake Okuma, Yuka Kinoshita, Masachika Ikegami, Yusuke Shinoda, Seiji Fukumoto, Sakae Tanaka, Hirotaka Kawano
PURPOSE: Tumour-induced osteomalacia (TIO) is a rare paraneoplastic syndrome usually caused by phosphaturic mesenchymal tumours, leading to great distress due to bone pain and affecting quality of life (QoL). This study aimed to investigate the prevalence and clinical outcomes of hip fractures and subchondral insufficiency fractures (SIF) of the femoral head. METHODS: Twelve TIO patients were treated between January 2000 and December 2016 at our hospital. All underwent surgery for the tumour causing TIO, and complete removal of the tumour was accomplished in nine of 12 cases...
August 23, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28833384/primary-hyperparathyroidism-in-chinese-children-and-adolescents-a-single-center-experience-at-peking-union-medical-college-hospital
#12
Wenbo Wang, Jing Kong, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing, Ou Wang
OBJECTIVE: Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. Our study aimed to summarize the clinical characteristics and the molecular genetics in patients with pediatric PHPT in China. DESIGN: Retrospective observational study. METHODS: A total of 59 pediatric PHPT patients (onset age <18 years) admitted to Peking Union Medical College Hospital from 1975 to 2015 were retrospectively identified. A group of 118 adult PHPT patients who presented during the same period were selected for comparing clinical characteristics between the two groups...
August 22, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28808956/erratum-to-nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#13
Suma Uday, Wolfgang Högler
No abstract text is available yet for this article.
August 14, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28794533/perioperative-management-of-patients-with-severe-hypophosphataemia-secondary-to-oncogenic-osteomalacia-our-experience-and-review-of-literature
#14
Alka Verma, Saipriya Tewari, Ashish Kannaujia
Oncogenic osteomalacia (OOM) is a rare paraneoplastic syndrome associated with mesenchymal tumours. It is characterised by phosphaturia, hypophosphataemia, decreased serum Vitamin D3 levels and severe osteomalacia. OOM-inducing tumours are usually benign, arising either from bone or soft tissue, with extremities and craniofacial region being the most common sites. Surgical resection of the tumour remains the mainstay of treatment. Challenges to an anaesthesiologist arise when such patients are planned for surgical resection of the underlying tumour...
July 2017: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/28792142/localization-of-oncogenic-osteomalacia-by-systemic-venous-sampling-of-fibroblast-growth-factor-23
#15
Ji Yeon Lee, Hye Sun Park, Seunghee Han, Jiyu Kelly Lim, Namki Hong, Sung Il Park, Yumie Rhee
PURPOSE: Tumor-induced osteomalacia (TIO) is characterized by hypophosphatemia caused by a phosphaturic mesenchymal tumor. While surgical resection of the tumor leads to a cure, identification of the responsible tumor is challenging. Recently, several studies showed that systemic sampling of fibroblast growth factor 23 (FGF23) is helpful for localization of tumors. The present study aimed to evaluate the clinical utility of this method in Korean patients. MATERIALS AND METHODS: Six patients compatible with TIO who were admitted to our hospital between 2006 and 2015 were analyzed...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28790551/bilateral-subcapital-femoral-neck-fracture-in-a-28-year-old-postpartum-woman
#16
Miroslav Kezunovic, Nikola Bulatovic, Vojin Kadic
INTRODUCTION: Subcapital femoral neck fractures are associated with high morbidity and mortality. These fractures mostly occur as a result of a high-force impact from traffic accidents and a fall from a great height, though non-traumatic forms are described in transient osteoporosis during the second half of pregnancy, in convulsions during electric shock, eclampsia, hypocalcemia, osteomalacia, renal osteodystrophy and myeloma. CASE REPORT: In this report we present a bilateral subcapital femoral neck fracture in a woman sustained two days after delivery...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28774221/lower-pain-and-higher-muscular-strength-in-immigrant-women-with-vitamin-d-deficiency-following-vitamin-d-treatment
#17
Marianne Englund, Jan Persson, Ingrid Bergström
BACKGROUND: Vitamin D deficiency is common among immigrants in the Nordic region. It may lead to osteomalacia with severe musculoskeletal pain. There are reports that vitamin D deficiency without osteomalacia may lead to pain but little is known of the effect of treatment. OBJECTIVE: To investigate whether a moderate dose of cholecalciferol and calcium improves strength and pain in a group of vitamin D deficient women. DESIGN: Twentyfive immigrant women with vitamin D deficiency diagnosed during pregnancy were treated postpartum with a daily dose of 1,600 IU cholecalciferol and 1,000 mg of calcium...
2017: International Journal of Circumpolar Health
https://www.readbyqxmd.com/read/28768937/definitive-surgical-treatment-of-osteomalacia-induced-by-skull-base-tumor-and-determination-of-the-half-life-of-serum-fibroblast-growth-factor-23
#18
Taijun Hana, Shota Tanaka, Hirofumi Nakatomi, Masaaki Shojima, Seiji Fukumoto, Masako Ikemura, Nobuhito Saito
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome often associated with fibroblast growth factor 23 (FGF23)-producing tumors such as phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT) affecting the bone and soft tissue. We experienced a patient with progressive bone and muscle pain due to FGF23-related TIO. Venous sampling had strongly suggested the anterior skull base as a source of FGF23, which led to the discovery of a small tumor in the ethmoid sinus extending intracranially...
August 2, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28761972/evaluation-of-a-new-fully-automated-assay-for-plasma-intact-fgf23
#19
Jean-Claude Souberbielle, Dominique Prié, Marie-Liesse Piketty, Anya Rothenbuhler, Pierre Delanaye, Philippe Chanson, Etienne Cavalier
Several FGF23 immunoassays are available. However, they are reserved for research purposes as none have been approved for clinical use. We evaluated the performances of a new automated assay for intact FGF23 on the DiaSorin Liaison platform which is approved for clinical use. We established reference values in 908 healthy French subjects aged 18-89 years, and measured iFGF23 in patients with disorders of phosphate metabolism and in patients with chronic kidney disease (CKD). Intra-assay CV was 1.04-2.86% and inter-assay CV was 4...
July 31, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28748194/recurrent-metatarsal-fractures-in-postmenopausal-woman-with-low-serum-alkaline-phosphatase-a-rare-diagnosis-not-to-miss
#20
Umair Iqbal, Hafsa Anwar, Ahmad Chaudhary, Madiha Alvi, Amy Freeth
Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in the gene for tissue nonspecific isoenzyme of alkaline phosphatase (ALP) that results in low levels of ALP. The clinical presentation of HPP is variable and in adults can easily be misdiagnosed as other forms of osteomalacia. We present a case of a 53-year-old Caucasian female who was evaluated for recurrent metatarsal fractures. She reported her first metatarsal fracture at age 21, and since then had at least 8 more metatarsal fractures over her lifetime, most without injury other than weight bearing...
July 2017: Journal of Investigative Medicine High Impact Case Reports
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