Browsing by Author "Contreras Olea, Oscar"

Now showing 1 - 12 of 12
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    Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports
    (2018) Avila Smirnow, Daniela; Beytía Reyes, María de Los Ángeles; Contreras Olea, Oscar; Gejman Enríquez, Roger; Escobar Henríquez, Raúl; Förster Mujica, Jorge.; Boutron, Audrey.; Caicedo Feijoo, Alfredo.
    Abstract Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. Case presentation Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients’ parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed. Conclusions To the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.
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    CASO CLÍNICO RADIOLÓGICO PARA DIAGNÓSTICO
    (2010) Rojas C, M. F.; Burdiles, Álvaro; Contreras Olea, Oscar; Rojas C, R.
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    Chronic nonbacterial osteomyelitis in children: a multicenter case series
    (2020) Concha, S; Hernández-Ojeda, A; Contreras Olea, Oscar; Mendez, C; Talesnik Guendelman, Eduardo; Borzutzky Schachter, Arturo
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    Elbow monoarthritis and bone infarction as a form of presentation of B cell lymphoma. Case report
    (2017) Díaz, P; Contreras Olea, Oscar; Durán, Josefina
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    Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico
    (2019) Contreras Olea, Oscar; Goecke Hochberger, C.; Rumié Carmi, Hana Karime; Lobo Avilés, R.; Mellado Sagredo, Cecilia Ximena; Avila Smirnow, Daniela
    Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.
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    Medial Patellofemoral Muscle : Report of a Rare Variant
    (2016) Beddings, C.; Burdiles, Álvaro; Contreras Olea, Oscar
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    Medial Patellofemoral Muscle: Report of a Rare Variant
    (2016) Beddings Moreno, Ignacio; Burdiles Orellana, Alvaro; Contreras Olea, Oscar
    Muscle anatomic variants range from absence of a muscle to supernumerary muscles, with a spectrum of possibilities that include anomalous course, anomalous origin or insertion, accessory slips, and others. The most common muscle variants around the knee include aberrant origin and accessory slips of the gastrocnemius muscles, presence of tensor fascia suralis muscle, and accessory popliteus. The medial patellofemoral ligament is a distinct extra-articular condensation of fibers located superficially to the medial joint capsule. We describe the presence of an accessory medial patellofemoral muscle in the expected location of the medial patellofemoral ligament, which to our knowledge has not been described in the literature before.
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    Neuropatía ciática en pediatría : presentación clínica y seguimiento a largo plazo
    (2020) Jaque Almendras, C.; Escobar Henríquez, Raúl; Caicedo Feijoo, A.; Beytía Reyes, María de Los Ángeles; Correa Pérez, S.; Gejman Enríquez, Roger; Cruz, Juan Pablo; Contreras Olea, Oscar; Avila Smirnow, Daniela
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    Protocolo de resonancia magnética de manos en diagnóstico precoz de artritis reumatoide : ¿por qué? ¿cómo? ¿para qué?
    (2020) Cikutovic Molina, Pablo Andrés; Contreras Olea, Oscar; Burdiles, Álvaro; Llanos Muñoz, Carolina; Pérez Díaz, Gonzalo Javier
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    Radiosinovectomía de muñeca guiada por ultrasonido: Experiencia de un caso clínico y revisión del tema
    (2012) Contreras Olea, Oscar; Riquelme M, P.; Quintana Fresno, Juan Carlos; Llanos C, J.; Burdiles, Álvaro
    La radiosinovectomía es una forma local de radioterapia utilizada como tratamiento de segunda línea en el manejo de artropatías inflamatorias y no inflamatorias con respuesta insatisfactoria a la terapia sistémica o local con corticoesteroides. Tiene una eficacia similar a la sinovectomía quirúrgica, con las ventajas de ser un tratamiento de menor costo, menos cruento y con menor tiempo de convalecencia. Su eficacia es mayor en artropatías inflamatorias caracterizadas por sinovitis, como la artritis reumatoide y artritis crónica juvenil, con compromiso mono u oligoarticular y en articulaciones de extremidades superiores. Existen múltiples isótopos que se pueden utilizar en suspensiones coloidales, siendo el sulfuro coloidal de renio-186 el utilizado para la articulación radiocarpiana. Una técnica de administración adecuada es fundamental para el éxito del tratamiento, siendo la inyección con guía ultrasonográfica adecuada para articulaciones de volumen pequeño, instancia en la que la colaboración del médico radiólogo entrenado es fundamental.
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    Tumor-induced osteomalacia: experience from a South American academic center
    (2017) González Vicente, Gilberto; Baudrand Biggs, René; Sepúlveda, M. F.; Vucetich, N.; Guarda Vega, Francisco; Villanueva Garín, Pablo Rodrigo; Contreras Olea, Oscar; Villa Massiff, Andrés Alberto; Salech, F.; Florenzano Valdés, Pablo Felipe