Publications by authors named "Pablo Florenzano"

22 Publications

  • Page 1 of 1

[An update on parathyroid carcinoma].

Rev Med Chil 2021 Mar;149(3):399-408

Departamento Radiología, Hospital Clínico Universidad de Chile, Santiago, Chile.

Parathyroid carcinoma is a rare malignant disease that presents as a sporadic or familial primary hyperparathyroidism (PHP). The latter is associated with some genetic syndromes. It occurs with equal frequency in both sexes, unlike PHP caused by parathyroid adenoma that is more common in women. It should be suspected in cases of severe hypercalcemia, with high parathyroid hormone levels and a palpable cervical mass. Given the difficulty in distinguishing between parathyroid carcinoma and adenoma prior to the surgery, the diagnosis is often made after parathyroidectomy. The only curative treatment is complete surgical resection with oncologic block resection of the primary tumor to ensure free margins. Adjuvant therapies with chemotherapy or radiation therapy do not modify overall or disease-free survival. Recurrences are common and re-operation of resectable recurrent disease is recommended. The palliative treatment of symptomatic hypercalcemia is crucial in persistent or recurrent disease after surgery since morbidity and mortality are more associated with hypercalcemia than with tumor burden.
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http://dx.doi.org/10.4067/s0034-98872021000300399DOI Listing
March 2021

Characterization of otologic involvement in patients with X-Linked Hypophosphatemia.

Clin Otolaryngol 2021 Jun 25. Epub 2021 Jun 25.

Department of Endocrinology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

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http://dx.doi.org/10.1111/coa.13825DOI Listing
June 2021

Characterization of Oral Health Status in Chilean Patients with X-Linked Hypophosphatemia.

Calcif Tissue Int 2021 Aug 10;109(2):132-138. Epub 2021 Apr 10.

Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 262, Cuarto piso, Santiago, Chile.

X-Linked Hypophosphatemia (XLH) is the most common cause of inherited hypophosphatemic rickets. Dental involvement, including spontaneous abscesses and/or fistulae, is an important part of the disease and has not been completely defined, especially in cohorts from developing countries. To describe oral health status in a cohort of Chilean patients with XLH and explore its correlation with biochemical presentation and treatment, we conducted a cross-sectional observational study of patients with PHEX mutation-confirmed XLH. All patients had an oral clinical exam, radiographic evaluation; clinical and biochemical data were obtained to determine their association with oral features. Twenty-six patients were included, 77% adults and 23% children. Most adults (89%) had past or current dental pulp pathology (abscesses and/or fistulae). Pulpal chamber enlargement and radiolucent apical lesions were common radiological features (94 and 74%, respectively). In children, abscess and/or fistulae were also common (33%). Caries index, which was determined by dmft/DMFT, was higher than the Chilean national average. Early and long-term therapy with phosphate and activated vitamin D was associated with lower carious index and attachment loss. XLH patients frequently present with high pulpal involvement and carious index. Conventional therapy was associated with lower carious index and attachment loss. These data highlight the importance of early and periodical dental care in order to prevent dental damage and assure a good quality of oral health for XLH patients.
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http://dx.doi.org/10.1007/s00223-021-00841-4DOI Listing
August 2021

[Hypophosphatemia induced by carboxymaltose iron and imatinib. Report of two cases].

Rev Med Chil 2020 Mar;148(3):404-408

Facultad de Medicina, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Hypophosphatemia is a relatively frequent and a potentially serious adverse drug effect. Clinically it is characterized by bone pain and muscle weakness. There are several mechanisms by which a drug can induce hypophosphatemia and they can be classified according to whether or not they are mediated by an excess of Fibroblast Growth Factor 23 (FGF23). We report two patients with the condition: (i) A 49-year-old woman with Chronic Myeloid Leukemia (CML) and gastric sleeve surgery at 46 years of age. After receiving intravenous carboxymaltose iron in one occasion due to refractory anemia, she developed symptomatic hypophosphatemia. Urinary phosphate losses associated with high FGF23 levels were confirmed. Plasma phosphate returned to normal values 90 days after the iron administration. (ii) A 40-year-old man with a history of CML in whom imatinib was started. He developed symptomatic hypophosphatemia due to non FGF23-mediated hyperphosphaturia. As treatment with imatinib could not be interrupted, hypophosphatemia and its symptoms resolved with oral phosphate intake. These cases illustrate the importance of recognizing and treating drug-induced hypophosphatemia in a timely manner, and thus avoid the morbidity associated with this entity.
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http://dx.doi.org/10.4067/S0034-98872020000300404DOI Listing
March 2020

Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.

J Am Soc Nephrol 2020 09 6;31(9):2184-2192. Epub 2020 Jul 6.

Skeletal Disorders and Mineral Homeostasis Section, National Institutes of Dental and Craniofacial Research, Bethesda, Maryland.

Background: The rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD-mineral and bone disorder have been defined, it is unknown if persistent phosphate wasting in nephropathic cystinosis is associated with a biochemical mineral pattern distinct from that typically observed in CKD-mineral and bone disorder.

Methods: We assessed and compared determinants of mineral homeostasis in patients with nephropathic cystinosis across the predialysis CKD spectrum to these determinants in age- and CKD stage-matched patients, with causes of CKD other than nephropathic cystinosis.

Results: The study included 50 patients with nephropathic cystinosis-related CDK and 97 with CKD from other causes. All major aspects of mineral homeostasis were differentially effected in patients with CKD stemming from nephropathic cystinosis versus other causes. Patients with nephropathic cystinosis had significantly lower percent tubular reabsorption of phosphate and fibroblast growth factor-23 (FGF23) at all CKD stages, and lower blood phosphate in CKD stages 3-5. Linear regression analyses demonstrated lower FGF23 levels in nephropathic cystinosis participants at all CKD stages when corrected for eGFR and age, but not when adjusted for serum phosphate.

Conclusions: Nephropathic cystinosis CKD patients have mineral abnormalities that are distinct from those in CKD stemming from other causes. Persistently increased urinary phosphate excretion maintains serum phosphate levels within the normal range, thus protecting patients with nephropathic cystinosis from elevations of FGF23 during early CKD stages. These findings support the notion that phosphate is a significant driver of increased FGF23 levels in CKD and that mineral abnormalities associated with CKD are likely to vary depending on the underlying renal disease.
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http://dx.doi.org/10.1681/ASN.2019111172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461669PMC
September 2020

Tumor-Induced Osteomalacia.

Calcif Tissue Int 2021 01 5;108(1):128-142. Epub 2020 Jun 5.

Skeletal Disorders and Mineral Homeostasis Section, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by tumoral production of fibroblast growth factor 23 (FGF23). The hallmark biochemical features include hypophosphatemia due to renal phosphate wasting, inappropriately normal or frankly low 1,25-dihydroxy-vitamin D, and inappropriately normal or elevated FGF23. TIO is caused by typically small, slow growing, benign phosphaturic mesenchymal tumors (PMTs) that are located almost anywhere in the body from the skull to the feet, in soft tissue or bone. The recent identification of fusion genes in a significant subset of PMTs has provided important insights into PMT tumorigenesis. Although management of this disease may seem straightforward, considering that complete resection of the tumor leads to its cure, locating these often-tiny tumors is frequently a challenge. For this purpose, a stepwise, systematic approach is required. It starts with thorough medical history and physical examination, followed by functional imaging, and confirmation of identified lesions by anatomical imaging. If the tumor resection is not possible, medical therapy with phosphate and active vitamin D is indicated. Novel therapeutic approaches include image-guided tumor ablation and medical treatment with the anti-FGF23 antibody burosumab or the pan-FGFR tyrosine kinase inhibitor, BGJ398/infigratinib. Great progress has been made in the diagnosis and treatment of TIO, and more is likely to come, turning this challenging, debilitating disease into a gratifying cure for patients and their providers.
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http://dx.doi.org/10.1007/s00223-020-00691-6DOI Listing
January 2021

Approach to patients with hypophosphataemia.

Lancet Diabetes Endocrinol 2020 02 7;8(2):163-174. Epub 2020 Jan 7.

Department of Internal Medicine and Medical Disciplines, Sapienza University of Rome, Rome, Italy.

Phosphate metabolism is an evolving area of basic and clinical research. In the past 15 years, knowledge on disturbances of phosphate homoeostasis has expanded, as has the discovery of new targeted therapies. Hypophosphataemia might be the biochemical finding in several diseases, and its clinical evaluation should initially focus on the assessment of pathophysiological mechanisms leading to low serum phosphate concentrations. Clinical consequences of hypophosphataemia can involve multiple organ systems and vary depending on several factors, the most important being the underlying disorder. This Review focuses on the approach to patients with hypophosphataemia and how underlying pathophysiological mechanisms should be understood in the evaluation of differential diagnosis. We define an algorithm for the assessment of hypophosphataemia and review the most up-to-date literature on specific therapies. Continuous research in this area will result in a better understanding and management of patients with hypophosphataemia.
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http://dx.doi.org/10.1016/S2213-8587(19)30426-7DOI Listing
February 2020

F-NaF PET/CT IMAGING IN FIBROUS DYSPLASIA OF BONE.

J Bone Miner Res 2019 09 22;34(9):1619-1631. Epub 2019 May 22.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health, Bethesda, MD, USA.

Fibrous dysplasia (FD) is a mosaic skeletal disorder resulting in fractures, deformity, and functional impairment. Clinical evaluation has been limited by a lack of surrogate endpoints capable of quantitating disease activity. The purpose of this study was to investigate the utility of F-NaF PET/CT imaging in quantifying disease activity in patients with FD. Fifteen consecutively evaluated subjects underwent whole-body F-NaF PET/CT scans, and FD burden was assessed by quantifying FD-related F-NaF activity. F-NaF PET/CT parameters obtained included (i) SUV (standardized uptake value [SUV] of the FD lesion with the highest uptake); (ii) SUV (average SUV of all F-NaF-positive FD lesions); (iii) total volume of all F-NaF-positive FD lesions (TV); and (iv) total FD lesion activity determined as the product of TV multiplied by SUV (TA =  TV ×  SUV ) (TA). Skeletal outcomes, functional outcomes, and bone turnover markers were correlated with F-NaF PET/CT parameters. TV and TA of extracranial FD lesions correlated strongly with skeletal outcomes including fractures and surgeries (p values ≤ 0.003). Subjects with impaired ambulation and scoliosis had significantly higher TV and TA values (P < 0.05), obtained from extracranial and spinal lesions, respectively. Craniofacial surgeries correlated with TV and TA of skull FD lesions (P < 0.001). Bone turnover markers, including alkaline phosphatase, N-telopeptides, and osteocalcin, were strongly correlated with TV and TA (P < 0.05) extracted from FD lesions in the entire skeleton. No associations were identified with SUV or SUV . Bone pain and age did not correlate with F-NaF PET/CT parameters. FD burden evaluated by F-NaF-PET/CT facilitates accurate assessment of FD activity, and correlates quantitatively with clinically-relevant skeletal outcomes. © 2019 American Society for Bone and Mineral Research.
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http://dx.doi.org/10.1002/jbmr.3738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744316PMC
September 2019

[Guidelines of the Chilean Endocrinology Society for the correct clinical use of bone densitometry].

Rev Med Chil 2018 Dec;146(12):1471-1480

Departamento de Medicina Interna, Facultad de Medicina, Universidad de Concepción, Concepción, Chile.

Osteoporosis is a silent and frequent disease, which increases fracture risk. Approximately half of women and one of five men over 50 years old will suffer an osteoporotic fracture throughout their lives. Dual-energy x-ray absorptiometry (DXA) allows a real bone mineral density (BMD) measurement in different parts of the skeleton and is considered the "gold standard" for quantifying osteoporosis with high accuracy and precision. The Board of the Chilean Society of Endocrinology and Diabetes (SOCHED) required from the Bone Disease Study Group to develop a consensus about the "Correct use of bone densitometry in clinical practice in Chilean population". Therefore, we elaborated 25 questions which addressed key aspects about the indications for a DXA scan, and the details of how to perform and report this test. Since some of the evidence obtained was of low quality or inconclusive, we decided to create a multidisciplinary group of national experts in osteoporosis to develop a consensus in this subject. The group consisted of 22 physicians including endocrinologists, gynecologists, geriatricians, radiologists, rheumatologists and nuclear medicine specialists. Using the Delphi methodology to analyze previously agreed questions, we elaborated statements that were evaluated by the experts who expressed their degree of agreement. The final report of this consensus was approved by the SOCHED board.
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http://dx.doi.org/10.4067/s0034-98872018001201471DOI Listing
December 2018

Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone.

J Bone Miner Res 2019 04 15;34(4):653-660. Epub 2019 Jan 15.

Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Fibrous dysplasia (FD) is a mosaic disease in which bone is replaced with fibro-osseous tissue. Lesions expand during childhood, reaching final burden by age 15 years. In vitro data suggest that disease activity decreases in adulthood; however, there is no clinical data to support this concept. Bone turnover markers (BTMs) have been used as markers of disease activity in FD; however, the natural history of BTM changes, the effects of antiresorptive treatment, and their association to clinical outcomes have not been described. The goals of this study are to describe 1) the natural history of FD disease activity and its association with pain; 2) the impact of bisphosphonates on the natural history of BTMs; and 3) the effect of bisphosphonates on progression of FD burden during childhood. Disease burden scores and alkaline phosphatase, osteocalcin, NTx, FGF23, and RANKL levels from 178 subjects in an FD/MAS natural history study were reviewed, including 73 subjects treated with bisphosphonates. BTMs, RANKL, and FGF23 demonstrated a sustained reduction with age. Bisphosphonate treatment did not significantly impact this age-dependent decrease in BTMs. Pain was more prevalent and severe in adults compared with children and was not associated with BTMs. In children, the progression of disease burden was not affected by bisphosphonates. In conclusion, FD is associated with an age-dependent decline in bone turnover and other markers of disease activity. Pain, in contrast, is more frequent and severe in adults with FD and is not related to bone turnover. Bisphosphonate treatment does not significantly impact the age-dependent decrease in bone turnover, nor does it prevent the progression of FD disease burden in children. These findings, in association with the established adverse effects of antiresorptives, should be considered when evaluating use and response to bisphosphonates in patients being treated for FD and in any study using BTMs as surrogate endpoints. © 2019 American Society for Bone and Mineral Research.
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http://dx.doi.org/10.1002/jbmr.3649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6983318PMC
April 2019

Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden.

J Bone Miner Res 2019 02 29;34(2):290-294. Epub 2018 Nov 29.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Fibrous dysplasia of bone (FD) is a mosaic disease caused by mutations in GNAS. Constitutive activation of the α-subunit of the G stimulatory protein (Gαs) leads to dysregulated proliferation of bone marrow stromal cells (BMSCs), generating expansile lesions of fibrotic tissue and abnormal bone. Local bone remodeling regulation by BMSCs is also altered, and FD tissue is characterized by abundant osteoclast-like cells that may be essential for lesion expansion. Animal models show local expression of RANKL in bone lesions, and treatment with the RANKL neutralizing antibody denosumab decreased lesion expansion rate in a patient with aggressive FD. However, the role of RANKL/osteoprotegerin (OPG) in FD pathophysiology is not yet understood. We measured serum levels of RANKL, OPG, and inactive RANKL-OPG complexes in FD patients of known disease burden and in healthy volunteers (HVs). RANK, RANKL, and Ki67 immunohistochemistry were assessed in FD tissue. Cultured FD and HV BMSCs were stimulated with prostaglandin E (PGE ) and 1,25 vitamin D to increase RANKL expression, and media levels of RANKL and OPG were measured. Osteoclastogenic induction by FD or HV BMSCs was assessed in co-cultures with HV peripheral monocytes. FD patients showed a 16-fold increase in serum RANKL compared to HVs. OPG was moderately increased (24%), although RANKL/OPG ratio was 12-fold higher in FD patients than in HVs. These measurements were positively correlated with the skeletal burden score (SBS), a validated marker of overall FD burden. No differences in serum inactive RANKL-OPG complexes were observed. In FD tissue, RANKL+ and Ki67+ fibroblastic cells were observed near RANK+ osteoclasts. High levels of RANKL were released by FD BMSCs cultures, but were undetectable in HV cultures. FD BMSC released less OPG than HV BMSCs. FD, but not HV BMSCs, induced osteoclastogenesis in monocyte co-cultures, which was prevented by denosumab addition. These data are consistent with the role of RANKL as a driver in FD-induced osteoclastogenesis. © 2018 American Society for Bone and Mineral Research.
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http://dx.doi.org/10.1002/jbmr.3602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6983320PMC
February 2019

Skeletal Consequences of Nephropathic Cystinosis.

J Bone Miner Res 2018 10 20;33(10):1870-1880. Epub 2018 Jul 20.

Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders in nephropathic cystinosis have not been described. We performed systematic bone and mineral evaluations of subjects with cystinosis seen at the NIH (n = 30), including history and physical examination, serum and urine biochemistries, DXA, vertebral fracture assessment, skeletal radiographs, and renal ultrasound. Additionally, histomorphometric analyses are reported on six subjects seen at the UCLA Bone and Mineral Metabolism Clinic. In NIH subjects, mean age was 20 years (range, 5 to 44 years), 60% were CKD stages G1 to G4, and 40% had a renal transplant. Mean bone mineral density (BMD) Z-scores were decreased in the femoral neck, total hip, and 1/3 radius (p < 0.05). Low bone mass at one or more sites was present in 46% of subjects. Twenty-seven percent of subjects reported one or more long bone fractures. Thirty-two percent of subjects had incidental vertebral fractures, which were unrelated to transplant status. Long-bone deformity/bowing was present in 64%; 50% had scoliosis. Diffuse osteosclerosis was present in 21% of evaluated subjects. Risk factors included CKD, phosphate wasting, hypercalciuria, secondary hyperparathyroidism, hypovitaminosis D, male hypogonadism, metabolic acidosis, and glucocorticoid/immunosuppressive therapy. Sixty-one percent of the non-transplanted subjects had ultrasonographic evidence of nephrocalcinosis or nephrolithiasis. Histomorphometric analyses showed impaired mineralization in four of six studied subjects. We conclude that skeletal deformities, decreased bone mass, and vertebral fractures are common and relevant complications of nephropathic cystinosis, even before renal transplantation. Efforts to minimize risk factors for skeletal disease include optimizing mineral metabolism and hormonal status, combined with monitoring for nephrocalcinosis/nephrolithiasis. © 2018 This article is a U.S. Government work and is in the public domain in the USA.
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http://dx.doi.org/10.1002/jbmr.3522DOI Listing
October 2018

[Pseudohypoparathyroidism: report of two cases of late presentation].

Rev Med Chil 2018 Jan;146(1):116-121

Departamento de Endocrinología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.
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http://dx.doi.org/10.4067/s0034-98872018000100116DOI Listing
January 2018

Tumor-induced osteomalacia.

Bone Rep 2017 Dec 20;7:90-97. Epub 2017 Sep 20.

Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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. In up to 60% of these tumors, a fibronectin-1(FN1) and fibroblast growth factor receptor-1 (FGFR1) fusion gene has been identified that may serve as a tumoral driver. The diagnosis is established by the finding of acquired chronic hypophosphatemia due to isolated renal phosphate wasting with concomitant elevated or inappropriately normal blood levels of FGF23 and decreased or inappropriately normal 1,25-OH-Vitamin D (1,25(OH)D). Locating the tumor is critical, as complete removal is curative. For this purpose, a step-wise approach is recommended, starting with a thorough medical history and physical examination, followed by functional imaging. Suspicious lesions should be confirmed by anatomical imaging, and if needed, selective venous sampling with measurement of FGF23. If the tumor is not localized, or surgical resection is not possible, medical therapy with phosphate and active vitamin D is usually successful in healing the osteomalacia and reducing symptoms. However, compliance is often poor due to the frequent dosing regimen and side effects. Furthermore, careful monitoring is needed to avoid complications such us secondary/tertiary hyperparathyroidism, hypercalciuria, and nephrocalcinosis. Novel therapeutical approaches are being developed for TIO patients, such as image-guided tumor ablation and medical treatment with the anti-FGF23 monoclonal antibody KRN23 or anti FGFR medications. The case of a patient with TIO is presented to illustrate the importance of adequate and appropriate evaluation of patients with bone pain and hypophosphatemia, as well as an step-wise localization study of patients with suspected TIO.
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http://dx.doi.org/10.1016/j.bonr.2017.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633085PMC
December 2017

[Vitamin D and parathyroid hormone levels and bone mineral density in patients undergoing hematopoietic cell transplantation].

Rev Med Chil 2016 Sep;144(9):1119-1124

Departamento de Endocrinología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile,

Background: Patients undergoing hematopoietic cell transplantation (HCT) are at increased risk of developing osteoporosis.

Aim: To determine the frequency and severity of Vitamin D deficiency, secondary hyperparathyroidism and low bone mass in patients undergoing HCT.

Patients And Methods: Analysis of the database of patients undergoing HCT in our institution in the 2010-2015 period. We searched for patients with measurements of 25-OH vitamin D (25OHD), parathyroid hormone (PTH) and bone densitometry by double beam X ray absorptiometry (DXA) prior and up to one year after HCT.

Results: Ninety patients were included, 53 were evaluated prior to HCT and 37 after HCT. They represent 73% of all patients undergoing HCT in the period. Median 25OHD was 12 ng/ml (range 4-41.4). Ninety seven percent of patients had levels considered insufficient and 85% compatible with deficiency. Median PTH was 60.5 pg/ml (range 21-186). Forty five percent of patients had secondary hyperparathyroidism. DXA was performed in 65 patients (prior to HCT in 54 and after HCT in 11). Of these, 11% had had a low bone mineral density.

Conclusions: Patients undergoing HCT have a high risk of vitamin D deficiency, secondary hyperparathyroidism and low bone mineral density.
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http://dx.doi.org/10.4067/S0034-98872016000900004DOI Listing
September 2016

Radioactive Iodine Administration Is Associated with Persistent Related Symptoms in Patients with Differentiated Thyroid Cancer.

Int J Endocrinol 2016 27;2016:2586512. Epub 2016 Oct 27.

Department of Endocrinology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

. Radioiodine (RAI) administration has adverse effects in patients treated for thyroid cancer (DTC), but there is scarce information regarding their intensity and duration. . To evaluate frequency and intensity of early and late RAI-related symptoms in patients with DTC. . Observational prospective study. . DTC patients who underwent thyroidectomy, with or without RAI. . Patients answered 2 surveys: (1) from 0 to 6 months and (2) between 6 and 18 months after initial treatment. . 110 patients answered the first survey and 61 both. Nearly 80 percent received RAI. Among early symptoms, periorbital edema, excessive tearing, salivary gland disturbances, dry mouth, taste disorders, and nausea were more frequent and intense among RAI patients. Regarding late symptoms, periorbital edema, salivary gland pain and swelling, and dry mouth were more frequent and intense in RAI patients. Frequency and intensity of adverse effects were not different between low and high RAI doses (50 versus ≥100 mCi). . RAI-related symptoms are frequent and usually persist after 6 months of administration, even when low doses are given. This finding must be considered when deciding RAI administration, especially in low risk patients, among whom RAI benefit is controversial.
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http://dx.doi.org/10.1155/2016/2586512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102728PMC
October 2016

High prevalence of vitamin D deficiency in women with breast cancer: The first Chilean study.

Breast 2016 Oct 9;29:39-43. Epub 2016 Jul 9.

Hematology-Oncology Department, Facultad de Medicina, Pontificia Universidad Católica de Chile, Avda. Diagonal Paraguay 319, Santiago, Chile. Electronic address:

Background: Breast cancer (BC) is the leading cause of female death from malignancy worldwide. One factor that has been associated to a higher incidence and poor prognosis is a Vitamin D deficiency (measured as 25-Hydroxi-Vitamin D (25OHD)). Our aim was to determine 25OHD levels in serum samples of Chilean BC patients before endocrine therapy and its association to clinical parameters at the time of diagnosis.

Methods: We analyzed clinical records of 105 women, evaluated at the Cancer Center of the Pontificia Universidad Católica de Chile. Serum levels of 25OHD were determined using a chemiluminescent microparticle immunoassay.

Results: The prevalence of vitamin D deficiency before endocrine therapy was of 70.5%. Only 7% of our patients showed sufficient vitamin D levels at the beginning of the endocrine treatment. There was a significant correlation found between age and 25OHD levels, and also between body fat percentage and 25OHD levels (r(2) = 0.04; p = 0.021; r(2) = 0.028; p = 0.0432, respectively). Summer 25OHD levels were significantly higher than winter levels (p = 0.0322).

Conclusion: Vitamin D deficiency is highly prevalent in Chilean BC women before endocrine therapy and 25OHD levels are inversely correlated to the age and body fat percentage of patients. Further studies are needed to determine causal relationship between vitamin D levels and BC development and outcome.
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http://dx.doi.org/10.1016/j.breast.2016.06.022DOI Listing
October 2016

[Bone involvement in systemic mastocytosis: Report of two cases].

Rev Med Chil 2016 Mar;144(3):401-5

Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.
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http://dx.doi.org/10.4067/S0034-98872016000300018DOI Listing
March 2016

[Constrictive pericarditis as a serious and rare presentation of systemic lupus erythematosus: Report of one case].

Rev Med Chil 2014 Aug;142(8):1065-8

Constrictive Pericarditis (CP) is an unusual disease. Its most common causes are idiopathic or secondary to cardiac surgery. Less frequently it is caused by connective tissue diseases. We report a 30 years old woman hospitalized due to progressive dyspnea, chest pain and signs of right sided heart failure. During her stay, a Systemic Lupus Erythematosus (SLE) was diagnosed. The echocardiogram suggested a CP and the diagnosis was confirmed by cardiac catheterization. Pericardiectomy was successfully performed. The biopsy confirmed a nonspecific chronic pericarditis, with extensive fibrosis and absence of caseating granulomas. The patient had a satisfactory recovery.
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http://dx.doi.org/10.4067/S0034-98872014000800015DOI Listing
August 2014

[A clinical teaching course for residents improves self-perception about preparation to teach].

Rev Med Chil 2012 Nov;140(11):1431-6

Escuela de Medicina, Pontificia Universidad Católica de Chile, Chile.

Background: Medical doctors need to be competent to teach patients, their families, students, and the health care team. In a previous study we determined that although the residents attach great importance to have teaching skills, they do not feel prepared to meet this role.

Aim: To assess self-perception of learning in a formal course of training how to teach for residents.

Material And Methods: In 2004 we implemented the course "Residents as Clinical Teachers", based on the Stanford Faculty Development Center for Medical Teachers Model (SFDC), for residents of a Medical School. Residents of all the post graduate programs were invited to take the course as an elective during the period 2004-2011. At the end of the course each resident completed the pre/post Seminar Series Housestaff/student Questionnaire; assessing perceptions of learning, expressed in a Likert scale from 1-5.

Results: The implementation of the course in 111 residents significantly improved self-perception of general preparation for teaching and improved self-perception of preparedness in each educational category. The personal goals most commonly established by participants were on feedback (52,2%), control of session (44%) and communication of goals (40%). Barriers for teaching most frequently identified were lack of time to do clinical teaching (51,3%) and environmental limitations (16,2%). The main impact of the course reported by residents were acquisition of teaching skills or tools for teaching (39,6%), enhancing of motivation (14%), and a richer understanding of teaching principles (14%).

Conclusions: A clinical teaching course for residents improves their self-perception of preparation to teach and enhances motivation for clinical teaching.
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November 2012
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