Browsing by Author "Talesnik, Eduardo"
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- ItemChanges in Treatments and Outcomes After Implementation of a National Universal Access Program for Juvenile Idiopathic Arthritis(J RHEUMATOL PUBL CO, 2021) Concha, Sara; Morales, Pamela S.; Talesnik, Eduardo; Borzutzky, ArturoObjective. To evaluate the clinical and demographic characteristics of patients with juvenile idiopathic arthritis (JIA) in Chile and compare treatments and outcomes before and after the introduction in 2010 of the Explicit Health Guarantees (GES) for JIA, a national universal access program for diagnosis and treatment of this condition. Methods. The clinical records of 280 patients with JIA followed at a private tertiary academic health network between 2007 and 2018 were reviewed. Results. Seventy percent of patients with JIA were female, mean age at diagnosis was 8.5 +/- 4.8 years and mean follow-up was 4.0 +/- 3.7 years. After GES implementation (post-GES), time to evaluation by pediatric rheumatologist and diagnostic delay were significantly reduced (15.0 +/- 4.5 vs 9.0 +/- 4.2 months, P = 0.004). In addition, use of magnetic resonance imaging significantly increased post-GES (P < 0.001). In terms of JIA treatments, before GES implementation, no patients received biologics. Of the 67 patients diagnosed before 2010 with continued follow-up at our center, 34% began biologic treatment after GES implementation. Of 196 patients diagnosed post-GES, 46% were treated with biologics. JIA remission rates were significantly higher in patients diagnosed post-GES compared to pre-GES (43% vs 29%, P = 0.02). Post-GES, we observed a significant decrease in uveitis complications among JIA patients (45% vs 13%, P = 0.04). Conclusion. The implementation of a national government-mandated universal access program for guaranteed JIA diagnosis and treatment led to earlier access to a pediatric rheumatologist and JIA diagnosis, increased rates of treatment with biologic drugs, higher rates of clinical remission, and lower rates of uveitis complications in Chilean children with JIA.
- ItemClinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience(2012) Vergara, Cristian; Borzutzky, Arturo; Gutierrez, Miguel A.; Iacobelli, Sergio; Talesnik, Eduardo; Martinez, Maria E.; Stange, Lilith; Basualdo, Javier; Maluje, Viviana; Jimenez, Renato; Wiener, Roberto; Tinoco, Javier; Jarpa, Elena; Arostegui, Juan I.; Yaguee, Jordi; Alvarez-Lobos, ManuelHereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1-35) and 8 years (range 0.3-21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5-15) for FMF and 21 days (range 9.5-30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G -> A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G -> A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations.
- ItemHigh sensitivity C-reactive protein and endothelial function in Chilean patients with history of Kawasaki disease(2008) Borzutzky, Arturo; Gutierrez, Miguel; Talesnik, Eduardo; Godoy, Ivan; Kraus, Jonathan; Hoyos, Rodrigo; Arnaiz, Pilar; Acevedo, MonicaKawasaki disease (KD) produces endothelial inflammation, which may lead to dilatation and aneurysms of coronary and peripheral arteries. Previous studies have suggested that these patients can present endothelial dysfunction that can predispose to coronary vascular events late after KD. The purpose of this study was to determine the cardiovascular risk profile and endothelial function of Chilean children with history of KD. In a prospective case-control study, 11 patients with history of KD (age 10.6 +/- 2.0 years, interval from initial episode 8.1 +/- 3.6 years) and 11 healthy, age-, gender-, and BMI z score-matched controls were evaluated with blood pressure (BP), a fasting lipid profile, high sensitivity C-reactive protein (hsCRP), and flow-mediated dilatation of the brachial artery (FMD). One KD patient (9.1%) had persistent coronary aneurysms. There was a significant difference of mean and log-transformed concentrations of hsCRP between case and control groups (2.3 +/- 3.0 vs 0.5 +/- 0.3 mg/l, P=0.045). None of the patients with elevated hsCRP had persistent coronary arterial lesions. No difference was found in systolic BP z score between the case and control groups. Diastolic BP z score was significantly higher in cases than controls (P=0.039). There were no significant differences of FMD between cases and controls. Mean fasting total cholesterol, high-density and low-density lipoprotein, and triglycerides in cases were normal, with no significant difference vs controls. This study shows that Chilean children with history of KD have increased levels of hsCRP, possibly reflecting persistent low-grade inflammation. The prognostic value of hsCRP in KD patients deserves further investigation.
- ItemInverse correlation between allergy markers and Helicobacter pylori infection in children is associated with elevated levels of TGF-beta(LIPPINCOTT WILLIAMS & WILKINS, 2011) Serrano, Carolina A.; Talesnik, Eduardo; Pena, Alfredo; Rollan, Antonio; Duarte, Ignacio; Torres, Javiera; Majerson, Daniela; Einisman, Helly; Viviani, Paola; Harris, Paul R.Objectives We evaluated allergy/hypersensitivity clinical markers and their correlation with Helicobactor pylori infection in children and adults to analyze how early acquisition of H. pylori could modulate allergic disorder expression.
- ItemIRF8 Mutations and Human Dendritic-Cell Immunodeficiency(MASSACHUSETTS MEDICAL SOC, 2011) Hambleton, Sophie; Salem, Sandra; Bustamante, Jacinta; Bigley, Venetia; Boisson Dupuis, Stephanie; Azevedo, Joana; Fortin, Anny; Haniffa, Muzlifah; Ceron Gutierrez, Lourdes; Bacon, Chris M.; Menon, Geetha; Trouillet, Celine; McDonald, David; Carey, Peter; Ginhoux, Florent; Alsina, Laia; Zumwalt, Timothy J.; Kong, Xiao Fei; Kumararatne, Dinakantha; Butler, Karina; Hubeau, Marjorie; Feinberg, Jacqueline; Al Muhsen, Saleh; Cant, Andrew; Abel, Laurent; Chaussabel, Damien; Doffinger, Rainer; Talesnik, Eduardo; Grumach, Anete; Duarte, Alberto; Abarca, Katia; Moraes Vasconcelos, Dewton; Burk, David; Berghuis, Albert; Geissmann, Frederic; Collin, Matthew; Casanova, Jean Laurent; Gros, PhilippeBACKGROUND
- ItemPediatric ANCA-associated vasculitis, a case seriesVasculitis asociadas a ANCA en pediatría, serie de casos clínicos(2021) Cid, Bárbara Javiera; Feuerhake, Teo; Méndez, Gonzalo P.; Talesnik, Eduardo; Borzutzky Schachter, ArturoLas vasculitis asociadas a ANCA (AAV) son enfermedades infrecuentes en la edad pediátrica. La literatura internacional en pediatría es escasa y la mayoría de las publicaciones se refieren a otras vasculitis de mayor incidencia en la infancia, como la vasculitis IgA y enfermedad de Kawasaki. Objetivo: Describir las características clínicas y de laboratorio de una serie de pacientes pediátricos con diagnóstico de AAV. Pacientes y Método: Estudio retrospectivo, descriptivo, de pacientes con diagnóstico de AAV atendidos en un centro terciario de salud en Santiago, Chile, entre los años 2000 y 2020. Se revisaron fichas electrónicas recolectando datos epidemiológicos, de laboratorio, imágenes y biopsias. Resultados: Se presentan cinco pacientes pediátricos con AAV de severidad variable, rango de edad al debut 5,5 a 13,5 años. Destaca una frecuencia elevada de compromiso renal en casos de poliangeítis microscópica (MPA) y el compromiso orbitario de tipo pseudotumor inflamatorio en pacientes con granulomatosis con poliangeítis (GPA); manifestación poco frecuente en series pediátricas internacionales. Los pacientes fueron tratados según recomendaciones extrapoladas de ensayos clínicos en población adulta con respuesta clínica satisfactoria; en su mayoría con corticoides sistémicos y ciclofosfamida o rituximab en etapa de inducción. Durante la mantención, la mayoría de pacientes se mantuvo estable con rituximab, azatioprina o metotrexato. Ningún paciente evolucionó con secuelas en órganos afectados y todos lograron suspender la terapia corticoidal. Conclusión: El presente reporte describe las características clínicas de una serie de pacientes pediátricos con AAV. En esta serie, la afectación renal fue frecuente en MPA y la afectación ocular por pseudotumor inflamatorio en GPA. La respuesta clínica con tratamiento según recomendaciones extrapoladas de población adulta fue favorable.
- ItemSyndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings(2009) Valenzuela, Patricia M.; Majerson, Daniela; Tapia, Jose L.; Talesnik, EduardoPFAPA syndrome is characterized by episodes of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. PFAPA syndrome usually begins in children under 5 years old and normally has self-resolution. The etiology of PFAPA syndrome remains unknown. In this paper, we report the cases of two different families with siblings with PFAPA syndrome: two sisters and two brothers. To our knowledge, this is the first report of siblings with PFAPA syndrome.