scholarly journals MON-352 When Osteoporosis Does Not Make Sense: Tumor-Induced Osteomalacia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Pawarid Techathaveewat ◽  
Ghada Elshimy ◽  
Kelvin Tran ◽  
Karyne L Vinales ◽  
Ricardo R Correa
Keyword(s):  
The Body ◽  
Mesenchymal Tumor ◽  
Renal Tubules ◽  
Mineral Density ◽  
Multiple Fractures ◽  
Post Surgery ◽  
Surgery Patient ◽  
Multiple Imaging ◽  
History Of ◽  
Fgf 23

Abstract Background: Tumor-induced Osteomalacia (TIO) is a rare paraneoplastic disorder that relates to excess FGF-23 secretion from mesenchymal tumors. Typical presentations include weakness, severe bone pain, but more importantly; multiple false or true fractures. Severe Hypophosphatemia with hyperphosphaturia is one of the pathognomonic findings due to FGF-23 action on renal tubules as phosphaturic agent. Multiple imaging modalities usually required as tumor can be in any size and anywhere in the body. Case: 58 yo male with past medical history of multiple fractures: bilateral rib cage, and metatarsal, dextroscoliosis who present to endocrine clinic due to low bone mineral density (BMD). On initial visit, screening bloodwork done was unremarkable except for mild elevation of Alkaline Phosphatase and extremely low phosphorus (1.2). 24 Urine phosphorus ordered which was elevated but it was thought to be nutrition related thus phosphorus replacement was prescribed (4 times per day). On follow up, repeat labs noted again with severe hypophosphatemia with elevated FePhos. DEXA was also performed which noted with T score -4.0 of lumbar spine. During that appointment, he informed also that currently in the process of evaluating right lung mass with biopsy resulted with benign mesenchymal tumor which he was happy to hear. TIO was then suspicious to be the cause of decrease BMD along with history of multiple fractures and height loss. Subsequently, FGF-23 staining was then made to the biopsy sample which was positive thus confirming the diagnosis. Patient then underwent surgical resection of the tumor which post-surgery, patient experienced overall symptoms improvement, resolution of phosphatemia, as well as significant improvement of BMD without additional therapy besides calcium and vitamin D. Discussion: Osteomalacia is a pathological bone disease involving poor mineralization of existing bone during remodeling phrase. It is commonly involved with chronic hypophosphatemia and/or hypocalcemia. Persistent decrease in calcium-phosphate product leads to reduction in bone mineralization activity and bone stiffness with Bowing deformities of the long bone being one of the common findings as well as false fracture.In TIO, FGF-23 is excessively secreted by mesenchymal tumor that is usually difficult to locate due to its small size. When FGF-Receptor is activated, NaPi-2a transcription is reduced in proximal tubule cells which leads to Phosphate excretion and wasting.TIO is a curable disease once tumor is located and surgically removed thus it is important for providers to be aware of it and pursue diagnostic work up when high suspicious. One of the most common reason for misdiagnosis is due to standard metabolic panel on its own does not include phosphorus level which is crucial. TIO has to be distinguish from osteoporosis as Bisphosphonates is not indicated as treatment which is first line for the latter.

scholarly journals Sternal Phosphaturic Mesenchymal Tumor-Induced Osteomalacia, Diagnosis and Management: A Case Report

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A224-A225
Author(s):  
Mopelola Adetola Adeyemo ◽  
Aili Guo
Keyword(s):  
Ct Scan ◽  
Functional Status ◽  
Muscle Weakness ◽  
Bone Pain ◽  
Mesenchymal Tumor ◽  
Phosphaturic Mesenchymal Tumor ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
History Of ◽  
Fgf 23

Abstract Background: Tumor induced osteomalacia (TIO) is a rare paraneoplastic disorder in which overproduction of fibroblast growth factor-23 (FGF-23) by mesenchymal tumor results in decreased renal phosphorus reabsorption and low to inappropriately normal 1,25-dihydroxyvitamin D, leading to hypophosphatemia and osteomalacia. Patients often present with bone pain, fractures, muscle weakness, and progressive decline in mobility. Due to the nonspecific nature of presenting symptoms of TIO diagnosis is often delayed. Clinical Case: A 55-year-old male presented with complaints of chest pain, shortness of breath, and generalized weakness following a ground level fall. Patient also reported a 10-year history of osteoarthritis with chronic back pain and 1-year history of generalized weakness, resulting in significant decline in functional status. On work-up, the initial CT scan of chest revealed multiple fractures including ribs, manubrium, scapula, and pubic rami. Subsequent biochemical evaluation was remarkable for hypophosphatemia to low of 1.3 mg/dL (2.4 - 5.0 mg/dL), low of 1,25-dihydroxyvitamin D of 13.1 pg/ml (19.9 - 79.3 pg/mL), reduced tubular phosphate reabsorption rate of 28% (normal > 80%) ratifying for renal phosphate wasting, normal iPTH level, and elevated serum FGF-23 level of 460 (normal < 180). Then, localization imaging for TIO was performed. After PET/CT scan showing increased uptake at the sternal area suggestive of lytic metastasis, subsequent CT angiogram of the chest identified mottled, irregular, mildly expansile appearance of the sternal manubrium. Sternal biopsy revealed phosphaturic mesenchymal tumor with positive FGF 23 mRNA expression. Surgical resection was delayed due to poor functional status and concurrent discovery of an EBV-positive nasopharyngeal carcinoma. Prior to surgery patient was treated with phosphorus and calcitriol supplements. Post-operatively serum phosphorus and FGF-23 levels were normalized. Patient also improved clinically. Patients treatment course was complicated by secondary hyperparathyroidism; however, this improved following surgery. Conclusion: Diagnosis of TIO can be delayed due to its nonspecific symptoms. Thus, in patients with chronic bone pain, muscle weakness, and atraumatic fractures, TIO should be kept on the differential and these patients should undergo thorough biochemical and imaging evaluation. Tumor localization could be challenging. Patients should be managed with supplements of active vitamin D and phosphorus with goal to normalize phosphorus level to prevent further bone demineralization prior to surgery. However, surgical intervention remains the mainstay of management as this is curative of TIO.

scholarly journals MON-373 Low Bone Mineral Density Does Not Equal Osteoporosis: The Finding of XLHR with a Novel Phex Mutation

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Kelvin Tran ◽  
Michael Mortensen ◽  
Ghada Elshimy ◽  
Karyne Lima Vinales ◽  
Ricardo Rafael Correa
Keyword(s):  
Vitamin D ◽  
Genetic Testing ◽  
Hypophosphatemic Rickets ◽  
Mineral Density ◽  
Inherited Disorders ◽  
Femur Fractures ◽  
Vitamin D Levels ◽  
Phex Gene ◽  
History Of ◽  
Fgf 23

Abstract Introduction: X-linked Hypophosphatemic rickets (XLHR) is a rare form of rickets that mainly affects children but, in some cases, it can be missed and not diagnosed until later in life. We present a post-menopausal female that was misdiagnosed with osteoporosis for many years until complete work up was done, and she was found to have osteomalacia due to hypophosphatemia. Clinical case: A 59-year-old female was evaluated following admission to the hospital for a worsening femur fracture on imaging and had received ORIF. She was diagnosed with osteoporosis at the age of 45 and endorses a history of multiple femur fractures from low impact trauma. Despite previous bisphosphonate therapy, she continued to have recurrent fractures.[RC1] She reported no family history of early osteoporosis, but her mother was diagnosed with rickets as a child. Secondary workup for osteoporosis revealed normal 25OH vitamin D, SPEP, TSH, PTH and serum calcium, endomysial antibodies, and 24-hour urine calcium levels. However, the patient had persistently elevated alkaline phosphatase levels (150-200) and low phosphate levels (1.8-2.4). This raised the possibility of Paget’s disease, so a bone scan and lumbar X-ray were obtained which were normal. Given low phosphate levels, fibroblast growth factor (FGF)-23 was obtained and was elevated. This left the differential between tumor-induced osteomalacia (TIO) vs hypophosphatemic rickets. Ga-DOTATE scan and PET scan were negative, so the patient subsequently underwent genetic testing. She was found to have a phosphate regulating endopeptidase homologue (PHEX) gene mutation and was finally diagnosed with XLHR Her PHEX mutation was caused by a novel variant, c.1366 T>C or W456R, which has only been documented once in the literature. The patient was treated with 2 gm per day of phosphate supplementation in divided doses and calcitriol 0.25 mcg once daily which normalized her phosphate and 1,25 vitamin D levels. 1 month later after treatment, she reported significant improvements in bone pain, and her DEXA scans were stable for the following 4 years. Discussion: XLHR is a heterogeneous group of inherited disorders characterized by hypophosphatemia and impaired bone mineralization leading to rickets. It results from mutations affecting the PHEX gene of which more than 300 pathogenic variants have been described. The mutation causes excess FGF-23 which leads to osteomalacia and chronic hypophosphatemia. This condition can be difficult to distinguish from TIO as both present with low phosphate and elevated FGF-23 but can be differentiated with genetic testing. Recognition of the correct diagnosis is prudent to providing correct treatment. The current treatment for XLH is calcitriol and phosphorus replacement. Recently, burosumab was FDA approved in 2018 for treatment in adults.

scholarly journals Tumor-Induced Osteomalacia: Increased Level of FGF-23 in a Patient with a Phosphaturic Mesenchymal Tumor at the Tibia Expressing Periostin

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Anke H. Hautmann ◽  
Josef Schroeder ◽  
Peter Wild ◽  
Matthias G. Hautmann ◽  
Elisabeth Huber ◽  
...  
Keyword(s):  
Postoperative Radiotherapy ◽  
Somatostatin Receptor ◽  
Tumor Resection ◽  
Distal Tibia ◽  
Immunohistochemical Analysis ◽  
Mesenchymal Tumor ◽  
Phosphaturic Mesenchymal Tumor ◽  
Multiple Fractures ◽  
Magnetic Resonance Imaging Mri ◽  
Fgf 23

In our case, a 45-year-old male patient had multiple fractures accompanied by hypophosphatemia. FGF-23 levels were significantly increased, and total body magnetic resonance imaging (MRI) revealed a tumor mass located at the distal tibia leading to the diagnosis of tumor-induced osteomalacia (TIO). After resection of the tumor, hypophosphatemia and the increased levels of FGF-23 normalized within a few days. Subsequent microscopic examination and immunohistochemical analysis revealed a phosphaturic mesenchymal tumor mixed connective tissue variant (PMTMCT) showing a positive expression of somatostatin receptor 2A (SSTR2A), CD68, and Periostin. Electron microscopy demonstrated a poorly differentiated mesenchymal tumor with a multifocal giant cell component and evidence of neurosecretory-granules. However, the resected margins showed no tumor-free tissue, and therefore a subsequent postoperative radiotherapy was performed. The patient is still in complete remission after 34 months. Tumor resection of PMTMCTs is the therapy of choice. Subsequent radiotherapy in case of incompletely resected tumors can be an important option to avoid recurrence or metastasis even though this occurs rarely. The prognostic value of expression of Periostin has to be evaluated more precisely in a larger series of patients with TIO.

scholarly journals Prevalence and Risk Factors of Osteoporosis in Women Referring to the Bone Densitometry Academic Center in Urmia, Iran

2015 ◽  
Vol 8 (7) ◽  
pp. 135 ◽  
Author(s):  
Marzieh Saei Ghare Naz ◽  
Giti Ozgoli ◽  
Mir Amir Aghdashi ◽  
Fatemeh Salmani
Keyword(s):  
Risk Factors ◽  
Bone Mineral Density ◽  
Bone Mineral ◽  
Bone Fracture ◽  
Significant Risk ◽  
The Body ◽  
Mineral Density ◽  
Total Prevalence ◽  
History Of ◽  
Prevalence Of Osteoporosis

<p><strong>BACKGROUND: </strong>Osteoporosis is one of the fastest growing health problems around the world. Several factors can affect this silent disease. The current study aimed to determine the prevalence and risk factors of osteoporosis in women in Urmia, a city in northwestern Iran.</p><p><strong>METHODS: </strong>This cross‑sectional study was performed on 360 non-pregnant women over the age of 15 who referred for bone density testing to the Urmia Imam Khomeini Academic Hospital. Data were collected by questionnaire, and bone mineral density of the femoral neck and lumbar spines L1- L4 was evaluated by dual X-ray absorptiometry.</p><p><strong>RESULTS:</strong> The total prevalence of osteoporosis in this study was 42.2%; prevalence of osteoporosis among women 45 years old or less was 14.3% and over the age of 45 years was 50.7%. The factors such as level of education, history of bone fracture, disease history (rheumatoid arthritis, diabetes, high blood pressure), gravidity and parity values, duration of lactation (p&lt;0.001), nutrition dimension of lifestyle (p=0.03), and green tea consumption (p=002) showed a statistically significant association with the bone mineral density. According to the regression model, age (OR=1.081), history of bone fracture (OR=2.75), and gravidity (OR=1.14) were identified as significant risk factors for osteoporosis, while the body mass index (OR=0.94) was identified as a protector against osteoporosis.</p><p><strong>CONCLUSION: </strong>The prevalence of osteoporosis in this study was high, and findings showed that the advancement of age, lifestyle, and reproductive factors (especially gravidity and duration of lactation) were determining factors for osteoporosis .Appropriate educational programs and interventions could help to increase the women’s peak bone mass therefore reducing their risk of developing osteoporosis.</p>

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

Re-imagining Reproduction: Unsettling Metaphors in the History of Imperial Science and Commercial Surrogacy in India

Somatechnics ◽  
2015 ◽  
Vol 5 (1) ◽  
pp. 88-103 ◽  
Author(s):  
Kalindi Vora
Keyword(s):  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
The Body ◽  
Body Parts ◽  
Colonial History ◽  
Women's Bodies ◽  
Commercial Surrogacy ◽  
Art Practices ◽  
History Of ◽  
Travel Industry

This paper provides an analysis of how cultural notions of the body and kinship conveyed through Western medical technologies and practices in Assisted Reproductive Technologies (ART) bring together India's colonial history and its economic development through outsourcing, globalisation and instrumentalised notions of the reproductive body in transnational commercial surrogacy. Essential to this industry is the concept of the disembodied uterus that has arisen in scientific and medical practice, which allows for the logic of the ‘gestational carrier’ as a functional role in ART practices, and therefore in transnational medical fertility travel to India. Highlighting the instrumentalisation of the uterus as an alienable component of a body and subject – and therefore of women's bodies in surrogacy – helps elucidate some of the material and political stakes that accompany the growth of the fertility travel industry in India, where histories of privilege and difference converge. I conclude that the metaphors we use to structure our understanding of bodies and body parts impact how we imagine appropriate roles for people and their bodies in ways that are still deeply entangled with imperial histories of science, and these histories shape the contemporary disparities found in access to medical and legal protections among participants in transnational surrogacy arrangements.

Receptions of the Past: Commemoration, Racism, Desire

Somatechnics ◽  
2017 ◽  
Vol 7 (2) ◽  
pp. 288-303
Author(s):  
Michael Connors Jackman
Keyword(s):  
Critical Point ◽  
Social Relations ◽  
White Privilege ◽  
Body Politic ◽  
The Body ◽  
Race And Racism ◽  
Lesbian And Gay ◽  
The Past ◽  
History Of

This article investigates the ways in which the work of The Body Politic (TBP), the first major lesbian and gay newspaper in Canada, comes to be commemorated in queer publics and how it figures in the memories of those who were involved in producing the paper. In revisiting a critical point in the history of TBP from 1985 when controversy erupted over race and racism within the editorial collective, this discussion considers the role of memory in the reproduction of whiteness and in the rupture of standard narratives about the past. As the controversy continues to haunt contemporary queer activism in Canada, the productive work of memory must be considered an essential aspect of how, when and for what reasons the work of TBP comes to be commemorated. By revisiting the events of 1985 and by sifting through interviews with individuals who contributed to the work of TBP, this article complicates the narrative of TBP as a bluntly racist endeavour whilst questioning the white privilege and racially-charged demands that undergird its commemoration. The work of producing and preserving queer history is a vital means of challenging the intentional and strategic erasure of queer existence, but those who engage in such efforts must remain attentive to the unequal terrain of social relations within which remembering forms its objects.

Myriad Aspects of Secular Thinking on Malayali Cuisine

GIS Business ◽  
2019 ◽  
Vol 14 (3) ◽  
pp. 202-206
Author(s):  
SAJITHA M
Keyword(s):  
Social Status ◽  
Daily Life ◽  
Social Indicators ◽  
The Body ◽  
Human Being ◽  
Healthy Life ◽  
The Social ◽  
The World ◽  
History Of ◽  
Civilized Society

Food is one of the main requirements of human being. It is flattering for the preservation of wellbeing and nourishment of the body.  The food of a society exposes its custom, prosperity, status, habits as well as it help to develop a culture. Food is one of the most important social indicators of a society. History of food carries a dynamic character in the socio- economic, political, and cultural realm of a society. The food is one of the obligatory components in our daily life. It occupied an obvious atmosphere for the augmentation of healthy life and anticipation against the diseases.  The food also shows a significant character in establishing cultural distinctiveness, and it reflects who we are. Food also reflected as the symbol of individuality, generosity, social status and religious believes etc in a civilized society. Food is not a discriminating aspect. It is the part of a culture, habits, addiction, and identity of a civilization.Food plays a symbolic role in the social activities the world over. It’s a universal sign of hospitality.[1]

A Case Report on Glanzmann’s Thrombasthenia: A Rare Platelet Function Disorder

2018 ◽  
Vol 2 (02) ◽  
pp. 59-60
Author(s):  
Farida Yasmin ◽  
Md. Anwarul Karim ◽  
Chowdhury Yakub Jamal ◽  
Mamtaz Begum ◽  
Ferdousi Begum
Keyword(s):  
Case Report ◽  
Platelet Function ◽  
The Body ◽  
Presenting Symptoms ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Platelet Function Disorders ◽  
Recurrent Epistaxis ◽  
Severe Epistaxis ◽  
History Of

Epistaxis in children is one of the important presenting symptoms for attending emergency department in paediatric patients. Recurrent epistaxis is common in children. Although epistaxis in children usually occurred due to different benign conditions, it may be one of the important presenting symptoms of some inherited bleeding disorder. Whereas most bleeding disorders can be diagnosed through different standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. In this article we describe one case report of platelet function disorders on Glanzmann’s thrombasthenia (GT). Our patient was a 10-year old girl who presented to us with history of recurrent severe epistaxis. She had a bruise on her abdomen and many scattered petechiae in different parts of the body. Her previous investigations revealed no demonstrable haemostatic anomalies. After performing platelet aggregation test, she was diagnosed as GT.

A Case of Neurosarcoidosis Mimicking Brain Tumor

2020 ◽  
Vol 16 ◽  
Author(s):  
Lutfullah Sari ◽  
Abdusselim Adil Peker ◽  
Dilek Hacer Cesme ◽  
Alpay Alkan
Keyword(s):  
Brain Tumor ◽  
Contrast Enhancement ◽  
Clinical Laboratory ◽  
Vasogenic Edema ◽  
Pulmonary Sarcoidosis ◽  
Brain Parenchyma ◽  
The Body ◽  
Oligoclonal Bands ◽  
Flair Sequence ◽  
History Of

Background: Neurosarcoidosis manifests symptomatically in 5% of patients with sarcoidosis and diagnosis can be challenging if not clinically suspected. Cerebral mass-like presentation of neurosarcoidosis rarely reported in the literature. We presented a woman with neurosarcoidosis who had a cerebral mass-like lesion which completely disappeared after medical treatment. Discussion: A 37-year-old woman with history of pulmonary sarcoidosis referred to the emergency service of our hospital with a one-month history of progressive dizziness, nausea and seeing flashing lights. At neurologic examination, numbness and weakness on the left side of the body, deviation of uvula toward the right side was seen. Cranial MRI demonstrated a 2.5x2 cm in size mass lesion which hypointense on T1 WI, heterogeneous hyperintense on T2 and FLAIR sequence with peripheral vasogenic edema and heterogeneous, irregular contrast enhancement simulating brain tumor. Also, leptomeningeal and nodular contrast enhancement was seen on brainstem, cerebellar vermis, perimesencephalic cistern and left frontal, bilateral parietooccipital sulcus. In laboratory tests; The level of serum angiotensin-converting enzyme (ACE) was 53 IU/mL (N:8-52 IU/mL) and cerebrospinal fluid (CSF) ACE was 23 IU/mL (N:0-2.6 IU/mL). CSF cytology analysis was normal. Pattern 2 oligoclonal bands were present. With these clinical, laboratory and radiological findings, cerebral involvement of sarcoidosis was suspected. Biopsy was not performed due to the high risk of morbidity caused by the deep location of the lesion.Patient was treated with methylprednisolone and Azathioprine for a month.On post-treatment control imaging; lesion disappeared completely without residual leptomeningeal and nodular contrast enhancement.Also, neurologic symptoms were decreased remarkably. Conclusion: Multi-system inflammatory disorders like sarcoidosis, can present with mass-like lesion in the brain parenchyma. While early diagnosis is important to prevent unnecessary interventions like biopsy and surgery, it is crucial to initiate the necessary treatment with the aim of recovery without sequelae. Radiological and clinical follow-up are fundamental in differential diagnosis.

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