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1.
Thromb Haemost ; 70(4): 691-6, 1993 Oct 18.
Artículo en Inglés | MEDLINE | ID: mdl-8115998

RESUMEN

An Arg91Gln substitution in the mature von Willebrand factor (vWF) has been associated with defective binding of vWF to factor VIII (FVIII). We studied four families with members initially classified as having type I von Willebrand disease (vWD) who were either homozygous or heterozygous for the Arg91Gln change. The first family was the original case described by Nishino et al. (1) where three members were homozygous for the Gln91 allele. They had a low FVIII coagulant activity:vWF antigen (VIIIC:vWFAg) ratio, from 0.29 to 0.44, and the ability of their plasma vWF to bind FVIII was markedly decreased. All the heterozygous members had normal vWF and FVIII levels but the capacity of their plasma vWF to bind FVIII was reduced and intermediate between the homozygous members and normals. The affected individual from the second family was heterozygous for the Gln91 allele and demonstrated a VIIIC:vWFAg ratio of 0.98. The FVIII binding assay confirmed the heterozygous status indicating that the moderately low levels of vWF were due to reduced expression of both alleles. The propositus from the third family was also heterozygous and had below normal levels of vWF as well as a low VIIIC:vWFAg ratio of 0.34; however, FVIII binding to her plasma vWF was similar to that of the homozygous individuals suggesting that Gln91-vWF was the major circulating form. Her daughter who has type I vWD inherited the allele without the Gln91 mutation indicating that the expression of this allele was indeed impaired. The heterozygous patient in the fourth family had a vWF level of 24 U/dl but an VIIIC:vWFAg ratio greater than 2.(ABSTRACT TRUNCATED AT 250 WORDS)


Asunto(s)
Arginina/genética , Factor VIII/metabolismo , Variación Genética , Glicina/genética , Mutación , Estructura Terciaria de Proteína , Factor de von Willebrand/química , Alelos , Secuencia de Bases , Femenino , Heterocigoto , Homocigoto , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Fenotipo , Unión Proteica
2.
Blood Coagul Fibrinolysis ; 4(5): 787-9, 1993 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-8292729

RESUMEN

A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected in exon 28 of the von Willebrand factor gene in three additional unrelated families with inherited type IIB von Willebrand disease. This identical mutation showed a differential phenotypic expression in each family.


Asunto(s)
Arginina/genética , Glutamina/genética , Mutación , Enfermedades de von Willebrand/genética , Factor de von Willebrand/genética , Adulto , Anciano , Secuencia de Bases , Preescolar , ADN Complementario/química , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Enfermedades de von Willebrand/sangre
3.
Ann Biol Clin (Paris) ; 62(5): 591-4, 2004.
Artículo en Francés | MEDLINE | ID: mdl-15355812

RESUMEN

We describe a patient who developed overlapping sensory ataxic form of Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS) following Campylobacter jejuni infection. Two cerebrospinal fluid examinations shown albuminocytologic dissociation associated with Campylobacter jejuni infection after tongue pierced. He had high titers of monospecific anti-GD1b IgG antibody. Because of the rarety of this disorder the diagnostic was difficult. There is a close association of IgG anti-ganglioside GD1b antibodies in sensory ataxic GBS. The findings of the present study show that antibody to GD1b ganglioside is one of the immunological factors in the pathogenesis of sensory ataxic form of GBS, a rare specific immuno-clinical variant form of GBS with prominent sensory ataxia.


Asunto(s)
Gangliósidos/inmunología , Síndrome de Guillain-Barré/sangre , Inmunoglobulina G/sangre , Síndrome de Miller Fisher/sangre , Adulto , Diagnóstico Diferencial , Síndrome de Guillain-Barré/diagnóstico , Humanos , Masculino , Síndrome de Miller Fisher/diagnóstico
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