Marfan syndrome
Top PDF Marfan syndrome:
TítuloA novel heterozygous intronic mutation in the FBN1 gene contributes to FBN1 RNA missplicing events in the Marfan syndrome
... cited. Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) ...
11
Vlvula artica bicspide: un factor sinrgico para dilatacin y diseccin artica en el sndrome de Marfan?
... either Marfan syndrome or bicuspid aortic valve are at increased risk for aortic dilation and dissection, but oc- currence of both conditions has barely been ...in Marfan syndrome patients is ...
5
Síndrome de Marfan en edad adulta: a propósito de un caso
... 4. Lebreiro A, Martins E, Cruz C, Almeida J, Maciel MJ, Cardoso JC, et al. Marfan syndrome: clinical mani- festations, pathophysiology and new outlook on drug therapy. Rev Port Cardiol. 2010;29(6):1021-36. ...
5
Resultados a corto y mediano plazos de la cirugía de la aorta ascendente en el Síndrome de Marfan
... Objective: Marfan syndrome is a genetic disorder that causes des- truction of elastic fibers in tissues that contain ...with Marfan syndrome and ascending aortic ...
7
Proceso enfermero aplicado a una persona con sndrome de Marfan y diseccin artica
... Introduction: Marfan syndrome affects different systems, es- pecially skeletal, ocular and cardiovascular muscle; the latter is referred within the abnormalities of as aortic ...fan syndrome is the ...
8
Estrategias terapéuticas de aneurisma abdominal en sindrome de Marfan a propósito de un caso
... 11. Samadi A, Detaint D, Roy C, Arnoult F, Delorme G, Gautier M, Milleron O, Raoux F, Meuleman C, Hvass U, Hamroun D, Beroud C, Tubach F, Boileau C, Jondeau G. Surgical ma- nagement of patients with Marfan ...
8
Acercamiento a la correlacin genotipo fenotipo en familias cubanas con sndrome Marfan
... Marfan syndrome is a hereditary condition caused by the mutation of the fibrillin-1 ...this syndrome being attended at the Clinical Genetics Department in the “Juan Manuel Márquez” Pediatric Hospital ...
6
Sndrome de Marfan Reporte de un paciente
... Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and ...
6
Vol. 91, Núm. 4 (2020)
... Marfan syndrome can affect several systems, inclu- ding the cardiovascular, musculoskeletal, central ner- vous, pulmonary, ocular, and skin systems. The 2010 revised Ghent criteria are used for the ...
6
Identificación de nuevas variantes genotípicas del Síndrome de Marfan Un estudio de caso
... de Marfan está relacionado con el gen FBN1; sin embargo, es difícil de conceder; ya que, se han encontrado diversas variaciones en este gen relacionadas con el síndrome; tal como menciona Faiver et ...with ...
73
Intercambio acadmico
... PURPOSE: To describe a technique of monoscleral fixation of the intraocular lens (IOL) after extracapsular extraction of subluxated lens in patients with Marfan syndrome. Design: Noncomparative, ...
6
Descripción de un caso clínico de un bovino Holando compatible con síndrome de Marfan
... Bovine Marfan Syndrome (BMFS) is an autosomal dominant hereditary disorder of the connective tissue with many of the clinical and pathologic manifestations of human Marfan ...Human’s Marfan ...
97
Sndrome de Marfan en edad adulta: a propsito de un caso
... Marfan syndrome is an autosomal dominant connective tissue disorder, caused by a defect in the fibrillin-1 gene, which plays an important role in the formation of elastic ...of Marfan syndrome ...
10
Neumotrax espontneo bilateral en un paciente con sndrome de Marfan: Reporte de caso y revisin de la literatura
... ABSTRACT. Case presentation of a 20 year-old male with bilateral spontaneous pneumothorax and Marfan syndrome. In spite of international consensus guiding the treatment of primary spontaneous pneumothorax, ...
5
Fragile X Syndrome
... • intellectual disabilities and chromosome fragility in other fragile sites have been described (FRAXD and FRAXF genes). Other less frequent syndromes, with prevalence lower than one in 50,000, have similar genetic and ...
9
Melkersson Rosenthal syndrome
... RESULTS: >L PKLU[PÄLK WH[PLU[Z ^P[O 4LSRLYZZVU9VZLU[OHS Z`UKYVTL ^LYL females and 13 were males; 100% of patients presented with recurrent facial nerve palsy. The onset of the disease was an average of 22.2 years old. ...
9
02 Sepsys Syndrome
... Incidence of severe sepsis or septic shock: 3 cases per 1,000 inhabitants and year 2/3 of sepsis cases in patients with significant underlying illnesses Occurs in 2 % of all hospitalizat[r] ...
68
Alteraciones de las enzimas que emplean el glutatión en el tejido aórtico de pacientes con síndrome de marfan
... Hasta ahora es bien conocido que el estrés oxidante está asociado con disfunción endotelial en enfermedades vasculares y cardiacas. Y la disfunción endotelial se ha descrito como el deterioro de la vasorelajación ...
37
Proceso de enfermería aplicada a un paciente con el síndrome de Marfan asociado a la aneurisma aórtica
... resultados de enfermería en un paciente con el Síndrome de Marfan internado en la unidad de terapia intensiva en el posoperatório de co- rrección de aneurisma de aorta. Fue desarro- llado en el hospital ...
10
Necesidad del manejo clnico integral de pacientes cubanos adultos con sndrome Marfan
... Se realizó un estudio descriptivo transversal para ca- racterizar a los pacientes adultos con SM que fueron atendidos durante la infancia en la consulta de Ge- nética Clínica del Hospital Juan Manuel Márquez o recogidos ...
5