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Hypophosphatemia Muscle Weakness

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https://www.readbyqxmd.com/read/29950359/severe-reversible-dysphagia-and-malnutrition-in-a-patient-with-tumour-induced-hypophosphataemia
#1
Tone Ramsli, Jørgen Valeur, Mikkel Pretorius, Per Gerlyng
Up to 20% of hospitalised patients may have low serum phosphate concentrations. In certain groups, such as patients with chronic alcohol overconsumption, severe trauma or sepsis, the prevalence may be 30%-50%. Profound hypophosphataemia is less common, but may lead to severe physiological disturbances. In rare cases, hypophosphataemia is caused by phosphaturic substances excreted from a tumour. Osteomalacia with chronic bone pain and fractures, as well as muscle weakness, is common in such patients. The tumours are often small and difficult to detect...
June 27, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29904418/acquired-hypophosphatemic-osteomalacia-is-easily-misdiagnosed-or-neglected-by-rheumatologists-a-report-of-9-cases
#2
Ling Li, Shu-Xia Wang, Hong-Mei Wu, Dong-Lan Luo, Guang-Fu Dong, Yuan Feng, Xiao Zhang
The aim of the present study was to assist rheumatologists in differentiating hypophosphatemic osteomalacia (HO) from mimic rheumatology diseases. Clinical data was obtained from 9 patients with acquired HO, initially misdiagnosed as mimic rheumatologic diseases. The data were retrospectively analyzed and a literature review was performed. The etiology of the cases was as follows: Adefovir dipivoxil-induced Fanconi syndrome was present in 6 of the cases, 2 were tumors and 1 case was chronic nephropathy. The chief complaint was thoracic or back pain and arthralgia, followed by progressive muscle weakness and dramatic movement limitation...
June 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29886586/-clinical-and-immunohistopathologic-study-of-phosphaturic-mesenchymal-tumor
#3
REVIEW
D M Li, H W Wu, J D Li, W B Xia, Y Jiang, D R Zhong
Objective: To study the clinicopathological characteristics and immunohistochemical phenotype of phosphaturic mesenchymal tumor (PMT) . Methods: The clinicopathological data and immunohistochemical profiles were obtained retrospectively from 206 patients diagnosed with PMT at Peking Union Medical College Hospital (PUMCH) during July 2008 to September 2017, with a review of literature. Results: The mean age of PMT patients was 42 years (range 13 to 70 years), with a male to female ratio of 1.1∶1.0. All patients presented with different degree of bone pain, muscle weakness, shorten of stature, thoracic deformity and pathological fractures, with hypophosphatemia and high serum ALP...
June 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29809158/slc34a3-intronic-deletion-in-an-iranian-kindred-with-hereditary-hypophosphatemic-rickets-with-hypercalciuria-and-review-of-reported-cases
#4
Shirin Hasani-Ranjbar, Hanieh Sadat Ejtahed, Mahsa M Amoli, Fatemeh Bitarafan, Mostafa Qorbani, Akbar Soltani, Bahareh Yarjoo
OBJECTIVE: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a very rare inheritable hypophosphatemic rickets/osteomalacia characterized by decreased renal phosphate reabsorption, hypophosphatemia, vitamin D refractory rickets, hyperphosphaturia, hypercalciuria, elevated circulating 1, 25-dihydroxy vitamin D levels and low serum parathyroid hormone (PTH) levels, leading to growth retardation, limb deformities, bone pain, muscle weakness, rickets and osteomalacia. Biallelic mutations in SLC34A3/NPT2c gene are responsible for the occurrence of the disease...
May 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29785270/distant-lung-metastases-caused-by-a-histologically-benign-phosphaturic-mesenchymal-tumor
#5
Maria P Yavropoulou, Christos Poulios, Christoforos Foroulis, Symeon Tournis, Prodromos Hytiroglou, Kalliopi Kotsa, Isaak Kessisoglou, Pantelis Zebekakis
Tumor-induced osteomalacia (TIO) is a rare form of hypophosphatemia usually caused by phosphaturic mesenchymal tumors (PMTs); the biologic behavior of PMTs is under investigation. Herein we present a case of TIO with a protracted course over 12 years leading to a fatal outcome. A 39-year-old man presented with weakness in 2004 and was found to have decreased serum phosphorus, phosphaturia and low levels of 1,25-dihydroxyvitamin D3. Four years later he developed a painful left calf mass. The lesion was resected, but recurred causing extreme pain and dysfunction...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29581918/steroids-and-thyrotoxicosis-precipitate-periodic-paralysis
#6
Rizwan Ahamed, Sarah McCalley, Anupam A Sule
Thyrotoxic Periodic Paralysis (TPP) belongs to a group of muscle diseases called channelopathies, which present with painless generalized muscle weakness without exertion. TPP can be precipitated by a large carbohydrate meal, stress, strenuous exercise, alcohol, a high-salt diet, menstruation, and cold temperatures. Rarely, steroids such as dexamethasone can also precipitate a TPP attack. A 29-year-old Hispanic male, with a history of hyperthyroidism, presented to the emergency department with progressive weakness, predominantly in the lower extremities since morning...
January 23, 2018: Curēus
https://www.readbyqxmd.com/read/29446010/phosphaturic-mesenchymal-tumors-what-an-endocrinologist-should-know
#7
REVIEW
J M Boland, P J Tebben, A L Folpe
Tumor-induced osteomalacia (TIO), also known as "oncogenic osteomalacia", is a rare cause of osteomalacia. TIO often has an insidious onset characterized clinically by progressive muscle weakness and bone pain with fractures. The hallmark biochemical finding is a persistent low serum phosphorus concentration due to renal phosphate wasting. The vast majority of cases of TIO result from production of the phosphaturic hormone fibroblast growth factor 23 (FGF23) by a histologically distinctive mesenchymal tumor, termed "phosphaturic mesenchymal tumor" (PMT)...
February 14, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29380000/tumor-induced-osteomalacia-in-association-with-pten-negative-cowden-syndrome
#8
J A Berglund, R I Gafni, F Wodajo, E W Cowen, D El-Maouche, R Chang, C C Chen, L C Guthrie, A A Molinolo, M T Collins
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. We present a patient with TIO who also exhibited clinical findings suggestive of Cowden syndrome (CS), a rare autosomal dominant disorder characterized by numerous benign hamartomas, as well as an increased risk for multiple malignancies, such as thyroid cancer...
April 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29026610/selective-blood-sampling-for-fgf-23-in-tumor-induced-osteomalacia
#9
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
#10
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/28934935/treatment-and-outcomes-of-tumor-induced-osteomalacia-associated-with-phosphaturic-mesenchymal-tumors-retrospective-review-of-12-patients
#11
Qing-Yao Zuo, Hong Wang, Wei Li, Xiao-Hui Niu, Yan-Hong Huang, Jia Chen, Yu-Hua You, Bao-Yue Liu, Ai-Min Cui, Wei Deng
BACKGROUND: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia. Nonspecific symptoms make the diagnosis elusive. In addition, locating the responsible tumor(s) is challenging. The aim of this study was to investigate the clinical management and outcomes of TIO. METHODS: The clinical features, diagnostic procedures, treatment, and outcomes of 12 patients were reviewed retrospectively. RESULTS: The cohort comprised six men and six women (mean age 45...
September 21, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28932769/microrna-expression-in-a-phosphaturic-mesenchymal-tumour
#12
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/28852641/is-there-any-link-between-tumor-induced-osteomalacia-and-psoriasis-a-case-report
#13
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/28713755/tumor-induced-osteomalacia-a-sherlock-holmes-approach-to-diagnosis-and-management
#14
G V Chanukya, Manoj Mengade, Jagadishwar Goud, I Satish Rao, Anuj Jain
Tumor-induced osteomalacia (TIO) is a subtype of paraneoplastic syndrome associated with hypophosphatemia due to renal phosphate wasting in adults. The humoral factor responsible for clinical picture known as fibroblast growth factor 23 (FGF23) is most often secreted by benign yet elusive mesenchymal tumors, difficult to localize, access, and excise completely; rarely, they are multiple and malignant. Paradoxical inappropriately normal or low levels of 1,25-dihydroxyvitamin D in the setting of hypophosphatemia is due to suppressive effect of FGF23...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28450684/the-diagnostic-dilemma-of-tumor-induced-osteomalacia-a-retrospective-analysis-of-144-cases
#15
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...
July 28, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28353596/adult-onset-hypophosphatemic-osteomalacia-associated-with-sjogren-syndrome-clinical-case-report
#16
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/27709474/identifying-the-culprit-lesion-in-tumor-induced-hypophosphatemia-the-solution-of-a-clinical-enigma
#17
Mathilde M Bruins Slot-Steenks, Neveen A T Hamdy, Michiel A J van de Sande, Dennis Vriens, Arjen H G Cleven, Natasha M Appelman-Dijkstra
Tumor-induced osteomalacia is a rare acquired metabolic bone disorder characterized by isolated renal phosphate wasting due to abnormal tumor production of fibroblast growth factor 23. We report the case of a 59 year old woman referred to our department with a long history of progressive diffuse muscle weakness and pain, generalized bone pains and multiple insufficiency fractures of heels, ankles and hips due to a hypophosphatemic osteomalacia. A fibroblast growth factor 23-producing phosphaturic mesenchymal tumor localized in the left quadriceps femoris muscle was identified 7 years after onset of symptoms...
December 2016: Endocrine
https://www.readbyqxmd.com/read/27338702/hypophosphatemia-promotes-lower-rates-of-muscle-atp-synthesis
#18
Dominik H Pesta, Dimitrios N Tsirigotis, Douglas E Befroy, Daniel Caballero, Michael J Jurczak, Yasmeen Rahimi, Gary W Cline, Sylvie Dufour, Andreas L Birkenfeld, Douglas L Rothman, Thomas O Carpenter, Karl Insogna, Kitt Falk Petersen, Clemens Bergwitz, Gerald I Shulman
Hypophosphatemia can lead to muscle weakness and respiratory and heart failure, but the mechanism is unknown. To address this question, we noninvasively assessed rates of muscle ATP synthesis in hypophosphatemic mice by using in vivo saturation transfer [31 P]-magnetic resonance spectroscopy. By using this approach, we found that basal and insulin-stimulated rates of muscle ATP synthetic flux (VATP ) and plasma inorganic phosphate (Pi ) were reduced by 50% in mice with diet-induced hypophosphatemia as well as in sodium-dependent Pi transporter solute carrier family 34, member 1 (NaPi2a)-knockout (NaPi2a-/- ) mice compared with their wild-type littermate controls...
October 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27247753/pathologic-femoral-neck-fracture-due-to-fanconi-syndrome-induced-by-adefovir-dipivoxil-therapy-for-hepatitis-b
#19
Yoon-Suk Lee, Byung-Kook Kim, Ho-Jae Lee, Jinmyoung Dan
In Fanconi syndrome, hypophosphatemic osteomalacia is caused by proximal renal tubule dysfunction which leads to impaired reabsorption of amino acids, glucose, urate, and phosphate. We present a rare case of a 43-year-old Korean male who was found to have insufficiency stress fracture of the femoral neck secondary to osteomalacia due to Fanconi syndrome. He had been receiving low-dose adefovir dipivoxil (ADV, 10 mg/day) for the treatment of chronic hepatitis B virus infection for 7 years and he subsequently developed severe hypophosphatemia and proximal renal tubule dysfunction...
June 2016: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/27242547/skeletal-muscle-but-not-cardiovascular-function-is-altered-in-a-mouse-model-of-autosomal-recessive-hypophosphatemic-rickets
#20
Michael J Wacker, Chad D Touchberry, Neerupma Silswal, Leticia Brotto, Chris J Elmore, Lynda F Bonewald, Jon Andresen, Marco Brotto
Autosomal recessive hypophosphatemic rickets (ARHR) is a heritable disorder characterized by hypophosphatemia, osteomalacia, and poor bone development. ARHR results from inactivating mutations in the DMP1 gene with the human phenotype being recapitulated in the Dmp1 null mouse model which displays elevated plasma fibroblast growth factor 23. While the bone phenotype has been well-characterized, it is not known what effects ARHR may also have on skeletal, cardiac, or vascular smooth muscle function, which is critical to understand in order to treat patients suffering from this condition...
2016: Frontiers in Physiology
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