RESUMEN
We report the bilateral absence of response to tests of vestibular function in 5 patients with familial dysautonomia.
Asunto(s)
Disautonomía Familiar/fisiopatología , Pruebas de Función Vestibular , Adolescente , Niño , Electronistagmografía , Femenino , Humanos , Masculino , TemperaturaRESUMEN
The presence or absence of a double pre-beta lipoprotein (pre-beta 1+ or pre-beta 1-) peak on agarose gel electrophoresis was recorded in: a) 77 survivors of myocardial infarction, b) their first-degree relatives, and c) 148 controls. Thirty-nine percent of myocardial infarction survivors and 24% of controls had pre-beta 1+ (P less than 0.05). The segregation of pre-beta 1+ in the families of myocardial infarction survivors was consistent with autosomal dominant inheritance. In the control group, fasting serum cholesterol and triglyceride values were higher in the pre beta 1+ subjects, but the differences were not significant. We conclude that the presence of double pre-beta lipoprotein peak on electrophoresis is associated with an increased risk of myocardial infarction.
Asunto(s)
Lipoproteínas VLDL/sangre , Infarto del Miocardio/sangre , Colesterol/sangre , Inglaterra , Humanos , Infarto del Miocardio/genética , Fenotipo , Riesgo , Triglicéridos/sangreRESUMEN
Metatropic dwarfism, the Kniest syndrome, and pseudoachondroplastic dysplasia are specific chondrodystrophic disorders that have in common dysplasia of the metaphyses, epiphyses, and vertebrae. Metatropic dwarfism and the Kniest syndrome have been confused with Morquio's disease and with each other in the past, but can be easily distinguished on the basis of radiographic features, clinical features, and cartilage pathology. The pseudoachondroplastic dysplasias are associated with short limbed dwarfism and have been confused with achondroplastic dwarfism, but can be readily distinguished on the basis of the normal head, delayed age of onset, the typical radiographic features and the cartilage pathology.
Asunto(s)
Enanismo/patología , Osteocondrodisplasias , Cartílago/ultraestructura , Niño , Preescolar , Diagnóstico Diferencial , Enanismo/diagnóstico , Enanismo/diagnóstico por imagen , Femenino , Humanos , Cuerpos de Inclusión/ultraestructura , Recién Nacido , Masculino , Osteocondrodisplasias/clasificación , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/genética , Osteocondrodisplasias/patología , RadiografíaRESUMEN
The most common inherited form of hydrocephalus, X linked hydrocephalus (HSAS), is characterised by mental retardation, adducted thumbs, and spastic paraplegia. Genetic analysis has mapped the locus for HSAS to subchromosomal band Xq28 within a region of approximately 2 megabases of DNA. In order to refine the location of the disease gene we have conducted genetic linkage analysis with Xq28 marker loci in four additional HSAS families. A lod score of 4.26 with polymorphic marker DXS52 (St14) confirms the linkage of HSAS to Xq28. Identification of a recombination event between the HSAS gene and Xq28 loci F8C and DXS605 (2-19) reduces the size of the interval likely to contain the disease locus to about 1.5 megabases, the distance between DXS605 and DXS52. The locus for neural cell adhesion molecule, L1CAM, maps within this interval and therefore represents a candidate gene for HSAS.
Asunto(s)
Mapeo Cromosómico , Ligamiento Genético , Hidrocefalia/genética , Cromosoma X , Adolescente , Adulto , Niño , Femenino , Marcadores Genéticos , Haplotipos , Humanos , Hidrocefalia/diagnóstico , Lactante , Recién Nacido , Escala de Lod , Masculino , Persona de Mediana Edad , Linaje , Polimorfismo Genético , Embarazo , Ultrasonografía PrenatalRESUMEN
A family is reported where tuberous sclerosis has probably affected five generations, but where none of the members has been mentally retarded and there is no history of seizures.
Asunto(s)
Esclerosis Tuberosa/genética , Adulto , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Linaje , Convulsiones/genéticaRESUMEN
Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature.
Asunto(s)
Cabello/anomalías , Osteocondrodisplasias , Factores de Edad , Estatura , Niño , Preescolar , Femenino , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Radiografía , SíndromeRESUMEN
To determine whether dysautonomia arises from alteration in nerve-growth factor (NGF), we measured serum levels of NGF subunits in normal and dysautonomic subjects using a biologic assay based on neurite outgrowth from chick ganglions, a binding assay based on displacement of radiolabeled betaNGF from rabbit-ganglion microsomes, and radioimmunoassays of chi, gamma and betaNGF subunits via antiserum to mouse NGF polypeptides. A threefold increase (P less than 0.001) in serum antigen levels of the biologically active subunit (betaNGF) was found for dysautonomic as compared with normal subjects. By all other assays, the groups were alike. The marked discrepancy in betaNGF levels between antigenic and functional (biologic and binding) measurements suggests a qualitative abnormaltiy of betaNGF in dysautonomia. Alternatively, elevation of betaNGF antigen can be regarded as secondary to disease. This alternative seems less likely since we must then suppose that the normalcy of functional assays in spurious.