Browsing by Author "Gonzalez, Gilberto"

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    Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis
    (ELSEVIER SCIENCE INC, 2008) Lopez, Jose M.; Balemans, Wendy; Piters, Elke; Van Hul, Wim; Gonzalez, Gilberto
    Craniotubular hyperostosis are a group of high bone mass disorders related to mutations in the LRP5 and SOST genes, although other causative genes remain to be identified. Little is known about the bone turnover and the response to T3 OF glucocorticoids in these patients. We describe a patient with craniotubular hyperostosis, including mutation analyses of the LRP5, SOST, DKK1 and KRM1 genes. We also studied bone turnover and bone mineral density (BMD), before and after a trial with T3 (75 mu g/d for 28 weeks) and T3 and prednisone (T3 100 mu g/d for 2 weeks, followed by 10 weeks on prednisone 10 mg/d, and a final 2 weeks period off of medicactions, completing 3 cycles in 42 weeks. Mutation analysis of the complete coding region and flanking highly conserved sequences of SOST, evaluation of the presence of the 52-kb deletion associated with Van Buchem disease in Dutch patients and mutation analysis of exons 2-4 of LRP5, and the coding regions of DKK1 and KRM1 did not reveal any disease-causing mutations. A baseline 5 to 7 fold increase in osteocalcin and in deoxypiridinoline was detected. After 4 weeks on 75 mu g/d of T3, osteocalcin decreased 36%, but at week 28, it returned to basal. Deoxypiridinoline did not change. After the first cycle on T3 and prednisone osteocalcin decreased 72% and at the end of the third cycle it remained 44% below basal value. Deoxypiridinoline was stable and high during the three cycles; no changes in BMD were observed. As we failed to identify any disease-causing mutations in our patient with craniotubular hyperostosis, we suggest that another gene must be involved in the pathogenesis of his condition. This study provides additional data about the high bone turnover described in craniotubular hyperostosis, and also suggests an abnormal response to T3 excess in this condition. (c) 2008 Elsevier Inc. All rights reserved.
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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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    High prevalence of vitamin D deficiency in Chilean healthy postmenopausal women with normal sun exposure: additional evidence for a worldwide concern
    (LIPPINCOTT WILLIAMS & WILKINS, 2007) Gonzalez, Gilberto; Alvarado, Jose N.; Rojas, Auristela; Navarrete, Carlos; Velasquez, Carmen G.; Arteaga, Eugenio
    Objective: To assess the prevalence of vitamin D deficiency in healthy postmenopausal women with normal sun exposure but without vitamin D fortification in their diets.
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    Increase of Bone Resorption and the Parathyroid Hormone in Postmenopausal Women in the Long-term after Roux-en-Y Gastric Bypass
    (2009) Valderas, Juan P.; Velasco, Soledad; Solari, Sandra; Liberona, Yessica; Viviani, Paola; Maiz, Alberto; Escalona, Alex; Gonzalez, Gilberto
    The effects of Roux-en-Y Gastric Bypass (RYGB) on bone in the long-term remains unclear. We assessed bone metabolism and bone mineral density (BMD) 1 to 5 years after RYGB.
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    Primary pituitary lymphoma in immunocompetent patient: diagnostic problems and prolonged follow-up
    (2012) Carrasco, Carmen A.; Rojas-Z, David; Chiorino, Renato; Gonzalez, Gilberto
    Primary pituitary lymphoma in immunocompetent patients is a rare disease and has been described in less than 20 cases. Moreover, low-grade lymphomas constitute only 3% of all primary central nervous system lymphoma. The objective of this report is to report a low-grade primary pituitary lymphoma, diagnostic problems and to give more evidence about the evolution of this rare disease. A 49 y.o. woman was referred to our clinic with symptoms of hypopituitarism. A diagnostic work-up showed mild anemia, an erythrocyte sedimentation rate of 122 mm/h and a negative Elisa test for HIV. Panhypopituitarism was confirmed and the MRI showed a 20 mm sellar and suprasellar enhancing mass with a thickening of the pituitary stalk, chiasmal compression and bitemporal hemianopsia. She underwent transsphenoidal resection only 10 months later for non medical reasons. During this period she was clinically asymptomatic on hormonal replacement therapy. A new MRI showed regression of the suprasellar extension and invasion to the left cavernous sinus. A firm and infiltrative mass was found during transsphenoidal surgery, and only partial resection was performed. Biopsy showed a low-grade lymphoplasmacytic lymphoma. Staging was negative for other localizations. She was given chemotherapy and localized radiotherapy. Four years after surgery, the sellar MRI showed a 10 mm residual sellar mass with the persistence of a cavernous sinus invasion and she is considered to be in remission. The neurosurgeon and clinician should consider primary pituitary lymphoma as a potential cause of a sellar mass, especially in the presence of diabetes insipidus and an enhancing invasive mass. Neurosurgical biopsy is crucial for a correct diagnosis and prognosis could be better than classic CNS primary lymphomas.
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    SARCOID-LIKE GRANULOMATOUS MYOSITIS-ASSOCIATED HYPERCALCEMIA. AN INFREQUENT CASE TO CONSIDER
    (2021) Uslar, Thomas; Olmos, Roberto; Godoy-Santin, Jaime; Mellado, Patricio; Gonzalez, Gilberto
    PTH-independent hypercalcemia due to granulomatous disease is well-documented and sarcoidosis is the most characteristic disease, although there are others. We describe a case of sarcoid-like granulomatous myositis. An 87-year-old man was referred with tetraparesis and hypercalcemia (albumin-corrected calcium of 13.4 mg/dl) following a trip to the Caribbean. The evaluation showed a suppressed PTH, 25-hydroxy vitamin D of 7.5 ng/ml, F-18-FDG PET/CT showed markedly increased uptake in intercostal, back, shoulder, buttock and thigh muscles and a deltoid biopsy confirmed extensive granulomatous myositis. He was prescribed glucocorticoids which resulted in normalized plasma calcium levels and complete recovery from tetraparesis. Sarcoid-like granulomatous myositis should be incorporated into the differential diagnosis of PTH-independent hypercalcemia, especially in the absence of clinical features of sarcoidosis and with special emphasis on the use of F-18-FDG PET/CT to ensure a correct approach.