RESUMEN
In 1928, Hugo Friedrich Kufs reported on a family with cerebral, retinal, and cutaneous cavernous malformations. Since then, more than 300 families with inherited cavernous malformations have been reported. Genetic studies showed three loci, on chromosomes 7q21-q22 (with the gene CCM1), 7p15-p13 (CCM2), and 3q25.2-q27 (CCM3). The gene product of CCM1 is Krit 1 (Krev interaction trapped 1), a protein interacting with angiogenesis by various mechanisms. Recently, CCM2 has also been identified; its product is a protein which might have a function similar to that of Krit 1. However, the CCM3 gene has still not been found. In this study, we present clinical and genetic findings on 15 German families.
Asunto(s)
Encéfalo/metabolismo , Proteínas Portadoras/genética , Pruebas Genéticas/métodos , Malformaciones Arteriovenosas Intracraneales/epidemiología , Malformaciones Arteriovenosas Intracraneales/metabolismo , Proteínas Asociadas a Microtúbulos/genética , Proteínas Proto-Oncogénicas/genética , Medición de Riesgo/métodos , Adulto , Análisis Mutacional de ADN/métodos , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Alemania/epidemiología , Humanos , Malformaciones Arteriovenosas Intracraneales/genética , Proteína KRIT1 , Masculino , Linaje , Polimorfismo Genético , Prevalencia , Factores de RiesgoRESUMEN
Spinal tumors are a frequent form of manifestation of neurofibromatosis. Out of 171 patients, who have been operated on over a ten years period on spinal tumors, 7 patients had neurofibromatosis (4.1%). A total of 9 operations were performed, removing 20 spinal tumors. Three patients had multiple neurofibromas. Half of the neurofibromas had a dumbbell configuration with a larger extraspinal extension. In three patients a family history of neurofibromatosis and typical dermatological signs were evident. Two cases will be selected and the basic concept regarding treatment and the risks involved will be discussed.
Asunto(s)
Neurofibromatosis/cirugía , Neoplasias del Sistema Nervioso Periférico/cirugía , Nervios Espinales , Adolescente , Adulto , Neoplasias Encefálicas/patología , Niño , Ependimoma/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Neoplasias Meníngeas/patología , Meningioma/patología , Persona de Mediana Edad , Neoplasias Primarias Múltiples , Neurilemoma/patología , Neurofibromatosis/diagnóstico , Neurofibromatosis/patología , Neoplasias del Sistema Nervioso Periférico/diagnóstico , Neoplasias del Sistema Nervioso Periférico/patologíaRESUMEN
The chemiluminescence-activity (CL-A) of peripheral blood monocytes (MO) was measured in eight patients with lymphocytic meningitis or meningoencephalitis and compared to CSF parameters and the clinical course. The initial maximum CL-A was around four times above the control and decreased to normal values within approximately 20 days. Poor correlations were found when the CL-A was compared to CSF parameters in the total group of patients. With regard to the CSF parameters in individual patients the CL-A was closely related to the cell count, to a lesser degree to the protein content, but not to the IgG content. Finally, a very good correlation of the CL-A was found with the clinical course in individual patients. This preliminary data suggests the clinical usefulness of CL-measurements and supports the conception that the CL-A predominantly reflects the specific cellular phase of inflammation, which is dominated by T cells.
