Results 11 to 20 of about 100,396 (143)
Ocular abnormalities and genetic findings in Marfan' s Syndrome [PDF]
Purpose: To identify the ocular abnormalities in Marfan´s syndrome patients. Methods: Prospective study of 46 Marfan patients with complete ophthalmologic evaluation.
Chen, Jane +2 more
core +2 more sources
Variabilidad en la presentación del Síndrome de Brown-McLean [PDF]
Case report: We report two aphakic patients with Brown-McLean syndrome. Discussion: One patient was affected by Marfan syndrome, after having undergone lens subluxation surgery and aphakia 23 years previously.
Heras-Mulero, H. (Henar) +2 more
core +1 more source
Serial clinical and echocardiographic evaluation in children with Marfan syndrome [PDF]
OBJECTIVE: To describe the clinical cardiac manifestations and temporal evolution of Marfan syndrome in children; to estimate the incidence of annuloaortic ectasia and mitral valve prolapse; and to evaluate tolerability and efficacy of beta-blockers in ...
Campos Filho, Orlando +7 more
core +5 more sources
Síndrome de Marfan y sus consecuencias en el ser humano
Este ensayo hace referencia a una mutación en el gen FBN1 el cual es el promotor y encargado de producir una proteína de gran tamaño llamada fibrilina-1 que se ubica en el cromosoma 15q21.1, y al presentarse esta mutación se desarrolla el síndrome de ...
Braulio Fernando Idrovo Chiriboga +1 more
semanticscholar +2 more sources
Objetivo: Relatar a experiência vivenciada durante a assistência prestada por enfermeiros a um paciente portador de Síndrome de Marfan (SM) no contexto de emergência cardiológica associada a aneurisma de aorta dissecante. Detalhamento de Caso: O presente
Bruna Renata Farias dos Santos +10 more
semanticscholar +1 more source
Variation of visual acuity in young patients with ectopia lentis submitted to surgery [PDF]
PURPOSE: To assess the results as to visual acuity of two different surgical procedures for ectopia lentis. METHODS: Fifty-one eyes of 28 patients (16 males and 12 females, mean age 16.00± 8.5) with simple (19 cases) or Marfan syndrome-associated (9 ...
Abujamra, Suel +3 more
core +4 more sources
Pectus excavatum como debut de síndrome de Marfan: reporte de caso
Introducción: el Síndrome de Marfan (SM) es un trastorno autosómico dominante caracterizado por alteraciones del tejido conectivo; en el que la talla alta, las extremidades y dedos alargados se asocian con anormalidades en los sistemas cardiovascular ...
Luis René Puglla Sánchez +3 more
semanticscholar +1 more source
Propiedades mecánicas y resistencia de aortas ascendentes patológicas [PDF]
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Forteza, A. +3 more
core +1 more source
Clinical management of homocystinuria; case report and review of the literature [PDF]
La homocistinuria es un error congénito del metabolismo de la metionina que conduce al acúmulo de metionina y de su principal metabolito, homocisteína, en plasma, orina y tejidos.
Díaz Guardiola, Patricia +5 more
core +2 more sources
Bone mineral density in children: association with musculoskeletal pain and/or joint hypermobility [PDF]
Objective: joint hypermobility can be associated with benign musculoskeletal pain. The relation between hypermobility and low bone mineral density is still unknown.
Hilário, Maria Odete Esteves +3 more
core +1 more source

