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The Journal of Clinical Endocrinology... Feb 2024Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome usually caused by oversecretion of fibroblast growth factor 23 (FGF23) from a phosphaturic mesenchymal...
CONTEXT
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome usually caused by oversecretion of fibroblast growth factor 23 (FGF23) from a phosphaturic mesenchymal tumor (PMT). PMTs are usually benign neoplasms but some of them show malignant characteristics.
OBJECTIVE
The aim of this study was to compare the clinical characteristics of benign and malignant PMTs inducing TIO.
METHODS
On March 31, 2023, we performed a systematic review of individual patient data analysis in Medline, Google Scholar, Google book, and Cochrane Library using the terms "tumor induced osteomalacia," "oncogenic osteomalacia," "hypophosphatemia," with no language restrictions and according to Preferred Reporting Items for Systematic reviews and Meta-Analyses criteria.
RESULTS
Overall, we collected data from 837 patients with TIO in which the diagnosis of benign and malignant PMT was specified. Of them, 89 were affected by malignant PMT and 748 by benign PMT. Patients with malignant PMTs were younger and presented bone pain, functional impairment, and bone deformities more frequently. Malignant PMTs showed higher values of intact FGF23 and a higher mortality rate.
CONCLUSION
The study results identify the clinical characteristics of patients with malignant TIO, permitting the early identification of patients with PMT at increased risk of malignancy. This may significantly improve the diagnostic approach to disease. Further experimental studies are mandatory to clarify the role of FGF23 in the pathogenesis of malignancy in PMTs.
Topics: Humans; Osteomalacia; Neoplasms, Connective Tissue; Fibroblast Growth Factors; Paraneoplastic Syndromes; Soft Tissue Neoplasms; Mesenchymoma
PubMed: 38006315
DOI: 10.1210/clinem/dgad690 -
Calcified Tissue International Feb 2024Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of phosphate homeostasis. We describe a single-center experience of genetically proven...
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of phosphate homeostasis. We describe a single-center experience of genetically proven HHRH families and perform systematic review phenotype-genotype correlation in reported biallelic probands and their monoallelic relatives. Detailed clinical, biochemical, radiological, and genetic data were retrieved from our center and a systematic review of Pub-Med and Embase databases for patients and relatives who were genetically proven. Total of nine subjects (probands:5) carrying biallelic SLC34A3 mutations (novel:2) from our center had a spectrum from rickets/osteomalacia to normal BMD, with hypophosphatemia and hypercalciuria in all. We describe the first case of genetically proven HHRH with enthesopathy. Elevated FGF23 in another patient with hypophosphatemia, iron deficiency anemia, and noncirrhotic periportal fibrosis led to initial misdiagnosis as tumoral osteomalacia. On systematic review of 58 probands (with biallelic SLC34A3 mutations; 35 males), early-onset HHRH and renal calcification were present in ~ 70% and late-onset HHRH in 10%. c.575C > T p.(Ser192Leu) variant occurred in 53% of probands without skeletal involvement. Among 110 relatives harboring monoallelic SLC34A3 mutation at median age 38 years, renal calcification, hypophosphatemia, high 1,25(OH)D, and hypercalciuria were observed in ~30%, 22.3%, 40%, and 38.8%, respectively. Renal calcifications correlated with age but were similar across truncating and non-truncating variants. Although most relatives were asymptomatic for bone involvement, 6/12(50%) had low bone mineral density. We describe the first monocentric HHRH case series from India with varied phenotypes. In a systematic review, frequent renal calcifications and low BMD in relatives with monoallelic variants (HHRH trait) merit identification.
Topics: Male; Humans; Adult; Familial Hypophosphatemic Rickets; Hypercalciuria; Osteomalacia; Enthesopathy; Nephrocalcinosis; Hypophosphatemia; Kidney Diseases, Cystic
PubMed: 37981601
DOI: 10.1007/s00223-023-01156-2 -
Epilepsia Apr 2018Several antiepileptic drugs (AEDs) have been associated with a detrimental effect on bone health through a reduction in serum vitamin D. Subsequently, several studies... (Review)
Review
OBJECTIVE
Several antiepileptic drugs (AEDs) have been associated with a detrimental effect on bone health through a reduction in serum vitamin D. Subsequently, several studies have investigated the effect of vitamin D supplementation in persons with epilepsy being treated with AEDs. The present systematic review of published literature was conducted to determine the effect of vitamin D intervention on bone health in adults with epilepsy.
METHODS
The following databases were searched using keywords including but not limited to epilepsy, bone, and vitamin D: PubMed, Medline, Embase, Scopus, Cochrane Clinical Trials, International Pharmaceutical Abstracts, Health Canada Clinical Trials Database, ClinicalTrials.gov, EU Clinical Trials, and Google. Studies were eligible if there was an epilepsy diagnosis, participants were adults (18+ years old), and vitamin D treatment and bone outcome were provided. Articles were screened independently by 2 reviewers. Methodological quality was assessed using the Cochrane Collaboration's tool and a modified Newcastle Ottawa Scale for nonrandomized studies.
RESULTS
Nine studies were found to be eligible for this review. After vitamin D treatment, there appeared to be positive changes in bone turnover markers; 3 of 8 studies found the increase in serum calcium to be significant, 6 of 8 studies found the decrease in alkaline phosphatase to be significant, and 2 of 4 studies found the decrease in parathyroid hormone to be significant. All 6 studies that investigated bone mineralization had significant findings; however, due to varying methodologies, the impact of vitamin D on bone mineralization was inconclusive.
SIGNIFICANCE
Vitamin D does appear to have some benefit to bone health in adults with epilepsy, and therefore supplementation could potentially be a requisite to using some AEDs. To clarify the role of vitamin D supplementation to manage the adverse effect of AEDs on bone health in adults with epilepsy, long-term trials that use higher doses (>1800 IU) and measure bone mineral density are necessary.
Topics: Animals; Anticonvulsants; Bone Density; Bone Remodeling; Clinical Trials as Topic; Dietary Supplements; Epilepsy; Humans; Vitamin D
PubMed: 29399794
DOI: 10.1111/epi.14015 -
Therapeutics and Clinical Risk... 2020Iron deficiency anemia (IDA) is a prevalent yet underdiagnosed condition with a significant impact on quality of life. Oral iron supplementation is often poorly... (Review)
Review
BACKGROUND
Iron deficiency anemia (IDA) is a prevalent yet underdiagnosed condition with a significant impact on quality of life. Oral iron supplementation is often poorly tolerated or yields inadequate response, requiring the use of intravenous iron (IVI) in some patients. Administration of certain IVI preparations has been associated with decreases in serum phosphate levels and clinically significant hypophosphatemia, which has been reported to lead to adverse events including serious fatigue and osteomalacia.
OBJECTIVE
The purpose of this study was to systematically assess the prevalence, clinical consequences, and reporting of treatment-emergent hypophosphatemia within literature investigating IVI therapies marketed in the United States (US).
METHODS
A systematic literature review (SLR) was conducted using the PubMed database to identify publications reporting serum phosphate levels or rates of hypophosphatemia within adult IDA patient populations receiving current US-marketed IVIs.
RESULTS
The SLR yielded 511 unique publications, with 40 records meeting the final inclusion criteria. Most studies did not report phosphate monitoring methodology or an explicit definition of hypophosphatemia. Hypophosphatemia rates ranged from 0.0% to 92.1% for ferric carboxymaltose (FCM), 0.0% to 40.0% for iron sucrose, 0.4% for ferumoxytol, and 0.0% for low-molecular-weight (LMW) iron dextran. Randomized controlled studies described hypophosphatemia as "asymptomatic" or did not report on other associated sequelae. Eleven case reports detailed treatment-emergent hypophosphatemia in patients treated with FCM. Patients with acute hypophosphatemia primarily developed severe fatigue; those with repeated FCM dosing developed chronic hypophosphatemia associated with osteomalacia and bone deformities.
CONCLUSION
Studies analyzed in this SLR reported a range of hypophosphatemia rates, with the highest consistently seen in patients treated with FCM. Across the clinical literature, there appeared to be minimal standardization of phosphate monitoring and definitions of hypophosphatemia. Although multiple cases have documented serious clinical consequences of hypophosphatemia associated with certain IVIs, current trials neither consistently nor adequately assess the frequency and severity of treatment-emergent hypophosphatemia and may underestimate its prevalence.
PubMed: 32308402
DOI: 10.2147/TCRM.S243462 -
Zhonghua Nei Ke Za Zhi Sep 2011To investigate the clinical features and treatment protocol and prognosis for the hypophosphataemic osteomalacia related to adefovir dipivoxil. (Review)
Review
OBJECTIVE
To investigate the clinical features and treatment protocol and prognosis for the hypophosphataemic osteomalacia related to adefovir dipivoxil.
METHODS
Analysis was made upon a case of patient with chronic hepatitis B developed hypophosphataemic osteomalacia after administration of adefovir dipivoxil. Literature review was carried out to survey the global prevalence of hypophosphataemic osteomalacia after administration of adefovir dipivoxil among patients with chronic hepatitis B.
RESULTS
The clinical symptoms started paralleling to the time taking adefovir dipivoxil, and alleviated after the patient withdrawn adefovir dipivoxil 10 weeks and was given phosphorus. Meanwhile, serum inorganic phosphorus recovered to normal (0.98 mmol/L), which lowest level was 0.77 mmol/L. Systematic review of the literature showed that hyperphosphaturia related to adefovir dipivoxil was dose-dependent, time-dependent and reversible. All reported cases of hypophosphataemic osteomalacia secondary to adefovir dipivoxil (10 mg/d) were from Asian population.
CONCLUSIONS
Adefovir dipivoxil induced hypophosphataemic osteomalacia is rarely seen in clinical practice. Those patients with chronic hepatitis B who take adefovir dipivoxil, no matter dosages, should take periodical examinations including blood calcium and serum inorganic phosphorus to monitor whether hypophosphataemic osteomalacia occurs. Other anti-virus drugs could be used when it happens.
Topics: Adenine; Humans; Hypophosphatemia; Male; Middle Aged; Organophosphonates; Osteomalacia
PubMed: 22176963
DOI: No ID Found -
Clinical Nutrition ESPEN Feb 2018Vitamin D deficiency has been identified as a global problem. Approximately 14% of the world population has inadequate vitamin D levels. This vitamin has been usually...
BACKGROUND & AIMS
Vitamin D deficiency has been identified as a global problem. Approximately 14% of the world population has inadequate vitamin D levels. This vitamin has been usually associated with bone disorders such as rickets, osteomalacia, and osteoporosis. However, these disorders present only a small part of all the disturbances which can be induced by its deficiency. Low serum vitamin D is associated with development of cardiovascular diseases, hypertension, neurodegenerative diseases, diabetes mellitus, metabolic syndrome and even cancer. This vitamin may be an important factor in the development of psychiatric illnesses, therefore clinicians should not leave this serious issue unresolved. The aim of this review is to describe the current data concerning the association between vitamin D serum levels, cognition and mental disorders.
METHODS
We conducted a systematic bibliographical research, of PubMed, MedLine literature and Cochrane database without language restriction to identify all publications concerning this issue from 1995 to the first quarter of 2017.
RESULTS
We found 48,937 articles concerning vitamin D, published during the last 22 years and 3 months (1995-2017). We selected only those publications focused on the association between vitamin D serum deficiency and mental disturbances (depression, schizophrenia, cognitive disturbances, attention deficit disorder, and autism). One hundred and sixty-seven papers were found suitable to our selection criteria. Careful evaluation of the relevant literature demonstrates that addition of vitamin D to conventional antidepressive agents can improve antidepressive effect in contrast to placebo. Regarding other mental conditions there are no clear-cut conclusions.
CONCLUSIONS
An association between low vitamin D serum levels and different mental disorders was found. Yet, nonetheless there is no clear consensus that addition of vitamin D improves or is related to a beneficial effect on mental health. More randomized clinical control trials should be performed in order to reach evidence based conclusions.
Topics: Cognition; Cognitive Dysfunction; Databases, Factual; Humans; Meta-Analysis as Topic; Observational Studies as Topic; Randomized Controlled Trials as Topic; Vitamin D; Vitamin D Deficiency
PubMed: 29460820
DOI: 10.1016/j.clnesp.2017.11.011 -
Journal of Clinical Neuroscience :... May 2019Tumor-induced osteomalacia (TIO) is regarded as a rare paraneoplastic syndrome generally caused by phosphaturic mesenchymal tumors (PMTs). As far as we know, only 18...
Tumor-induced osteomalacia (TIO) is regarded as a rare paraneoplastic syndrome generally caused by phosphaturic mesenchymal tumors (PMTs). As far as we know, only 18 spinal PMTs have been described in the world's English literature. The purpose of this study is to increase familiarity with its clinical features, diagnosis, and treatment of spinal PMTs. A 34-year-old woman presented with bone pain for more than 3 years and was found to have decreased serum phosphorus, elevated serum alkaline phosphatase. A full body Ga-DOTA-TATE PET/CT revealed increased uptake at the left posterior L5 neural arch. Then the tumor was totally resection and the histopathology revealed a PMT. Postoperatively, the patient's symptoms were relieved and experienced no recurrence during the 3-year follow-up. Generally, the preoperative diagnosis and location of spinal PMT still remains challenging. We also retrospectively analyzed 18 cases of patients with spinal PMTs published in English. Clinical symptoms, laboratory findings, treatment and outcome were retrospectively analyzed. Spinal PMTs are extraordinary and it is challengeable in locating tumors. Besides surgical resection, the treatment also included radiation, monoclonal antibodies or medical therapy. However, the optimal treatment remains controversial. Therefore, we should exert all our energies on the exploration of etiology and adjuvant therapy for this disease.
Topics: Adult; Female; Humans; Lumbar Vertebrae; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Positron Emission Tomography Computed Tomography; Retrospective Studies; Spinal Canal
PubMed: 30660478
DOI: 10.1016/j.jocn.2019.01.010 -
Frontiers in Microbiology 2024The incidence of oropharyngeal cancer (OPC) is increasing. This study used bibliometric analysis and topic modeling to explore the research trends and advancements in...
OBJECTIVES
The incidence of oropharyngeal cancer (OPC) is increasing. This study used bibliometric analysis and topic modeling to explore the research trends and advancements in this disease over the past 10 years, providing valuable insights to guide future investigations.
METHODS
7,355 English articles from 2013 to 2022 were retrieved from the Web of Science Core Collection for bibliometric analysis. Topic modeling was applied to 1,681 articles from high-impact journals, followed by an assessment of topic significance ranking (TSR). Medical Subject Headings (MeSH) terms were extracted using R and Python, followed by an analysis of the terms associated with each topic and on an annual basis. Additionally, genes were extracted and the number of genes appearing each year and the newly emerged genes were counted.
RESULTS
The bibliometric analysis suggested that the United States and several European countries hold pivotal positions in research. Current research is focused on refining treatments, staging and stratification. Topic modeling revealed 12 topics, emphasizing human papillomavirus (HPV) and side effect reduction. MeSH analysis revealed a growing emphasis on prognosis and quality of life. No new MeSH terms emerged after 2018, suggesting that the existing terms have covered most of the core concepts within the field of oropharyngeal cancers. Gene analysis identified TP53 and EGFR as the most extensively studied genes, with no novel genes discovered after 2019. However, CD69 and CXCL9 emerged as new genes of interest in 2019, reflecting recent research trends and directions.
CONCLUSION
HPV-positive oropharyngeal cancer research, particularly treatment de-escalation, has gained significant attention. However, there are still challenges in diagnosis and treatment that need to be addressed. In the future, more research will focus on this issue, indicating that this field still holds potential as a research hotspot.
PubMed: 38919494
DOI: 10.3389/fmicb.2024.1387679