Browsing by Author "Florenzano, Pablo"

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    A clinical teaching course for residents improves self-perception about preparation to teach
    (SOC MEDICA SANTIAGO, 2012) Reyes, Carlos; Florenzano, Pablo; Contreras, Alvaro; Gonzalez, Alejandro; Beltran, Daniela; Aravena, Carlos; Grassi Corrales, Bruno
    A clinical teaching course for residents improves self-perception about preparation to teach 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. (Rev Med Chile 2012; 140: 1431-1436).
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    An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia
    (2022) Aljuraibah, Fahad; Bacchetta, Justine; Brandi, Maria Luisa; Florenzano, Pablo; Javaid, Muhammad K.; Makitie, Outimaija; Raimann, Adalbert; Rodriguez, Mariano; Siggelkow, Heide; Tiosano, Dov; Vervloet, Marc; Wagner, Carsten A.
    Because of their rarity, diseases characterized by chronic hypophosphatemia can be underrecognized and suboptimally managed, resulting in poor clinical outcomes. Moreover, serum phosphate may not be measured routinely in primary care practice. Authors participated in several working sessions to advance the understanding of phosphate homeostasis and the causes, consequences, and clinical implications of chronic hypophosphatemia. Phosphate levels are regulated from birth to adulthood. Dysregulation of phosphate homeostasis can result in hypophosphatemia, which becomes chronic if phosphate levels cannot be normalized. Chronic hypophosphatemia may be underrecognized as serum phosphate measurement is not always part of routine analysis in the primary care setting and results might be misinterpreted, for instance, due to age-specific differences not being accounted for and circadian variations. Clinical consequences of chronic hypophosphatemia involve disordered endocrine regulation, affect multiple organ systems, and vary depending on patient age and the underlying disorder. Signs and symptoms of chronic hypophosphatemic diseases that manifest during childhood or adolescence persist into adulthood if the disease is inadequately managed, resulting in an accumulation of clinical deficits and a progressive, debilitating impact on quality of life. Early identification and diagnosis of patients with chronic hypophosphatemia is crucial, and clinical management should be started as soon as possible to maximize the likelihood of improving health outcomes. Furthermore, in the absence of a universally accepted description for "chronic hypophosphatemia," a definition is proposed here that aims to raise awareness of these diseases, facilitate diagnosis, and guide optimal phosphate management strategies by improving monitoring and assessment of patient response to treatment. (c) 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
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    Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives
    (2023) Seefried, Lothar; Duplan, Martin Biosse; Briot, Karine; Collins, Michael T.; Evans, Rachel; Florenzano, Pablo; Hawkins, Neil; Javaid, Muhammad Kassim; Lachmann, Robin; Ward, Leanne M.
    X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D ("conventional therapy") and a fully human monoclonal anti-FGF23 antibody, burosumab. The clinical benefit of conventional therapy in adults is limited, and poor tolerance and complications are common. Burosumab was first approved as a treatment for XLH in 2018 and its disease-modifying benefits in clinical trials in children suggest burosumab treatment could also alter the disease course in adults. Without long-term clinical data on multiple XLH-related sequelae available, the results of an elicitation exercise are reported, in which eight global experts in XLH posited how long-term treatment with burosumab is anticipated to impact the life course of clinical sequelae in adults with XLH. Based on their clinical experiences, the available evidence and their disease understanding, the experts agreed that some long-term benefits of using burosumab are likely in adults with XLH even if they have a misaligned skeleton from childhood. Burosumab treatment is anticipated to reduce the incidence of fractures and halt the progression of clinical sequelae associated with conventional therapy. While the trajectories for established dental abscesses are not expected to improve with burosumab treatment, dental abscess development may be prevented. Starting treatment with burosumab in childhood to increase the likelihood of an aligned skeleton and continuation into and throughout adulthood to maintain euphosphatemia may optimize patient outcomes, although future real-world investigation is required to support this hypothesis.
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    Characterization of Oral Health Status in Chilean Patients with X-Linked Hypophosphatemia
    (2021) Marin, Alejandro; Morales, Pilar; Jimenez, Macarena; Borja, Eugenia; Ivanovic-Zuvic, Danisa; Collins, Michael T.; Florenzano, Pablo
    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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    Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia
    (2022) Hartley, Iris R.; Gafni, Rachel, I; Roszko, Kelly L.; Brown, Sydney M.; de Castro, Luis F.; Saikali, Amanda; Ferreira, Carlos R.; Gahl, William A.; Pacak, Karel; Blau, Jenny E.; Boyce, Alison M.; Salusky, Isidro B.; Collins, Michael T.; Florenzano, Pablo
    Fibroblast growth factor-23 (FGF23) measurement is a critical tool in the evaluation of patients with disordered phosphate homeostasis. Available laboratory reference ranges for blood FGF23 were developed using samples from normophosphatemic individuals. Reliance on such values can lead to misdiagnosis in patients with FGF23-mediated hypophosphatemia, such as X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO), in whom pathology-driving FGF23 levels can be in the "normal range." To determine FGF23 levels that are diagnostic for the identification of patients with FGF23-mediated hypophosphatemic disorders, we studied 149 patients with various disorders of FGF23-mediated and FGF23-independent hypophosphatemia and defined cut-off levels for both intact FGF23 (iFGF23) and C-terminal FGF23 (cFGF23) that can accurately distinguish between FGF23-mediated and FGF23-independent hypophosphatemia. In addition, to demonstrate the relationship between FGF23 and phosphate across the spectrum of human physiology, we assessed blood levels of FGF23 and phosphate in 434 patients with various forms of hypophosphatemia, hyperphosphatemia, and normophosphatemia. An intact FGF23 cut point of 27 pg/mL was 100% sensitive and specific in distinguishing FGF23-mediated from FGF23-independent hypophosphatemia, and a cFGF23 cut point of 90 RU/mL was 100% sensitive and specific in distinguishing specifically TIO from FGF23-independent hypophosphatemia. There was overlap in the cFGF23 range of 45-90 RU/mL between genetic forms of FGF23 excess and FGF23-independent hypophosphatemia, substantiating the superiority of iFGF23 over cFGF23 in making the diagnosis of FGF23-mediated hypophosphatemia. In this cohort, using the laboratory upper limit of normal for cFGF23 (180 RU/mL) would result in a misdiagnosis in more than half of patients with FGF23-mediated hypophosphatemia. In this, the largest study of FGF23 in chronic hypophosphatemia to date, we established iFGF23 and cFGF23 cut-off values to assist in the evaluation and diagnosis of hypophosphatemic conditions. (c) 2022 American Society for Bone and Mineral Research (ASBMR). This article has been contributed to by US Government employees and their work is in the public domain in the USA.
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    Guidelines of the Chilean Endocrinology Society for the correct clinical use of bone densitometry
    (SOC MEDICA SANTIAGO, 2018) Barberan M, Marcela; Campusano M, Claudia; Trincado M, Patricio; Oviedo G, Sofia; Brantes G, Sergio; Sapunar Z, Jorge; Canessa, Jose; Cid, Pia; Escobar, Freddy; Eugenin, Daniela; Florenzano, Pablo; Gajardo, Hector; Gonzalez, Gilberto; Illanes, Francisca; Jimenez, Beatriz; Martinez, Carolina; Miranda, Edith; Rivera, Sandra; Salman, Patricio; Trejo, Pamela; Velasco, Soledad
    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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    Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23
    (2020) Florenzano, Pablo; Jimenez, Macarena; Ferreira, Carlos R.; Nesterova, Galina; Roberts, Mary Scott; Tella, Sri Harsha; Fernandez de Castro, Luis; Gafni, Rachel I.; Wolf, Myles; Juppner, Harald; Gales, Barbara; Wesseling-Perry, Katherine; Markovich, Daniela; Gahl, William A.; Salusky, Isidro B.; Collins, Michael T.
    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.