Browsing by Author "Jimenez, M."

Now showing 1 - 3 of 3
  • No Thumbnail Available
    Item
    Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia
    (2021) Jimenez, M.; Ivanovic-Zuvic, D.; Loureiro, C.; Carvajal, C. A.; Cavada, G.; Schneider, P.; Gallardo, E.; Garcia, C.; Gonzalez, G.; Contreras, O.; Collins, M. T.; Florenzano, P.
    We report the most comprehensive clinical and molecular characterization of XLH patients performed in Chile. We show high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life, with many relevant complications presenting more frequently than previously reported in cohorts from developed countries. Introduction Our current understanding of the clinical presentation and natural history of X-linked hypophosphatemia (XLH) comes mainly from cohorts from developed countries, with limited data on the clinical and genetic abnormalities of XLH patients in South America. Objective To describe the clinical, biochemical, and molecular presentation of patients with XLH in Chile. Methods Patients with XLH referred by endocrinologist throughout Chile were included. Demographic data and clinical presentation were obtained from a clinical interview. Surveys were applied for quality of life (QoL), pain, and functionality. FGF23 was measured by ELISA, and genetic testing was performed. Imaging studies were conducted to assess skeletal and renal involvement. Results We included 26 patients, aged 2-64 years, from 17 unrelated Chilean families. All pediatric patients but only 40% of adults were receiving conventional therapy, while 65% of all patients had elevated alkaline phosphatase. All patients had mutations in PHEX, including 5 novel variants. Radiographic skeletal events (RSE) and enthesopathies in adults were frequent (34% and 85%, respectively). The duration of treatment was associated with fewer RSE (p < 0.05). Most adults reported pain and impaired QoL, and 50% had impaired physical capacity. The number of enthesopathies was associated with worse pain and stiffness scores (p < 0.05). Conclusion Chilean patients with XLH have a high prevalence of musculoskeletal burden associated with pain and impaired physical capacity and QoL, especially in adults who were generally undertreated. These data identify a significant unmet need, inform our understanding of the current status of patients, and can guide care for XLH patients in similarly socioeconomically defined countries.
  • No Thumbnail Available
    Item
    Decreasing tidal volume from 6 to 4 ml/kg: feasibility and effects on repeated opening and closing
    (2010) Retamal, J.; Libuy Mena, Javiera Camila; Jimenez, M.; Delgado, M.; Besa, C.; Bugedo, G.; Bruhn, A.
  • Thumbnail Image
    Item
    Microcarcinoma tiroideo de evolución agresiva
    (2005) Mosso, L.; Jimenez, M.; Gonzalez, H.; Solar, A.; Torres, J.; Fardella, C.; NCD Risk Factor Collaboration (NCD-RisC)
    The treatment of papillary thyroid carcinoma of less than 10 mm diameter is a matter of controversy. The incidental finding of papillary microcarcinomas in autopsies is frequent and some authors postulate that these tumors are biologically inactive and should only be observed. We report a 21 years old woman with a papillary thyroid cancer of 6x5x5 mm and bilateral paratracheal metastases, that leas subjected to a total thyroidectomy. She received 200 mCi of radioiodine. Two years after surgery, a new nodule of 9.6 Mm diameter was detected by ultrasound, that was treated with a new dose of 200 1,170 of radioiodine. One year later a suprasternal mass of 2 cm diameter and 3 enlarged lymph nodes were detected. She was subjected to a surgical lymph node dissection of the neck and the biopsy confirmed the presence of cancer. She received a new dose of 300 mCi of radioiodine. The mother of the patient had a 7 mm thyroid nodule that was also a papillary carcinoma.