Browsing by Author "Uslar N., Thomas"

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    Aceptación y adherencia de una pauta de preparación de colon el mismo día del examen en población chilena
    (2015) Mansilla V., Rodrigo; Corsi S., Oscar; Glasinovic V., Esteban; Uslar N., Thomas; Monrroy Bravo, Hugo Alfonso; Candia Balboa, Roberto; González Donoso, Robinson; Álvarez Lobos, Manuel; Parra Blanco, Adolfo
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    Progressive 11β-hydroxysteroid dehydrogenase type 2 insufficiency as kidney function declines
    (2024) Uslar N., Thomas; Newman, Andrew J.; Tapia Castillo, Alejandra; Carvajal Maldonado, Cristián Andrés; Fardella B., Carlos; Allende, Fidel; Solari, Sandra; Tsai, Laura C.; Milks, Julia; Cherney, Michael; Stouffer, David G.; Auchus, Richard; Brown, Jenifer M.; Baudrand Biggs, René; Vaidya, Anand
    Background It has been postulated that chronic kidney disease (CKD) is a state of relative 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta HSD2) insufficiency, resulting in increased cortisol-mediated mineralocorticoid receptor (MR) activation. We hypothesized that relative 11 beta HSD2 insufficiency manifests across a wide spectrum of progressively declining kidney function, including within the normal range. Methods Adult participants were recruited at 2 academic centers. A discovery cohort (n = 500) enrolled individuals with estimated glomerular filtration rate (eGFR) ranging from normal to CKD stage 5, in whom serum cortisol-to-cortisone (F/E) was measured as a biomarker of 11 beta HSD2 activity. A validation cohort (n = 101) enrolled only individuals with normal kidney function (eGFR >= 60 mL/min/1.73 m(2)) in whom 11 beta HSD2 activity was assessed via serum F/E and 11-hydroxy-to-11-keto androgen (11OH/K) ratios following multiple maneuvers: oral sodium suppression test, dexamethasone suppression test (DST), and ACTH-stimulation test (ACTHstim). Results In the discovery cohort, lower eGFR was associated with higher F/E (P-trend < .001). Similarly, in the validation cohort, with normal eGFR, an inverse association between eGFR and both F/E and 11OH/K ratios was observed (P-trend < .01), which persisted following DST (P-trend < .001) and ACTHstim (P-trend < .05). The fractional excretion of potassium, a marker of renal MR activity, was higher with higher F/E (P-trend < .01) and with lower eGFR (P-trend < .0001). Conclusion A continuum of declining 11 beta HSD2 activity was observed with progressively lower eGFR in individuals spanning a wide spectrum of kidney function, including those with apparently normal kidney function. These findings implicate cortisol-mediated MR activation in the pathophysiology of hypertension and cardiovascular disease in CKD.
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    Reporte de caso de feocromocitoma bilateral asociado a mutación del gen TMEM127. Primer caso chileno
    (2022) Delgado García, José Fröbel; Perez E., María Javiera; Delgado, Dasha; Lagos, Carlos; Baudrand Biggs, René; Uslar N., Thomas
    Up to 40% of Pheochromocytoma/paraganglioma syndromes are associated with germline mutations. Therefore, they are considered familial and heritable. We report a 65 year old woman with hypertension, bilateral adrenal nodules found in the CT scan and elevated urinary metanephrines. Her genetic testing showed a c.117_120delGTCT TMEM127 gene mutation. She was subjected to a laparoscopic bilateral adrenal excision. After five years of follow up, no recurrence of the disease has been recorded.
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    Sarcoid-like granulomatous myositis-associated hypercalcemia. An infrequent case to consider
    (2021) Uslar N., Thomas; Olmos Borzone, Roberto Ignacio; Godoy Santín, Jaime; Mellado T., Patricio; González Vicente, 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, 18F-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 18F-FDG PET/CT to ensure a correct approach.
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    Validez y confiabilidad de una escala de clasificación de limpieza gástrica en endoscopia digestiva alta en población chilena
    (2016) Mansilla V., Rodrigo; Uslar N., Thomas; Chahuán A., Javier; Latorre S., Gonzalo; Cruz N., Rodrigo; Cruz Urrutia, Ricardo Javier; Sirhan Nahum, Marisol; Espino Espino, Alberto Antonio; Honold G., Francisca; Huenur F., Julieth; Miranda B., Paula; Riquelme Pérez, Arnoldo