RESUMO
The present study was undertaken to characterize the intracranial volume in patients with Apert syndrome. Radiographic and CT-based techniques for measuring intracranial volume were found to show close correlation when validated in dry normal adult skulls. A standard-deviation score of intracranial volume, determined from CT scans in 20 patients with Apert syndrome from birth to 30 years of age, was calculated with reference to a normative database of age- and sex-matched controls. Analysis of the data showed no significant difference in standard-deviation score between Apert patients with or without ventriculomegaly, before or after cranial vault surgery, or between male and female patients. The mean standard-deviation score among all Apert CT scans compared with normative data was 3.1, which was highly significant (p < 0.001). However, the growth curves showed no significant difference in intracranial volume between Apert and normal patients below 3.5 months of age. In summary, intracranial volume in Apert syndrome is within normal range at birth but increases to greater than 3 standard deviations above normal after 3.5 months of age, a finding independent of cranial vault surgery.
Assuntos
Acrocefalossindactilia/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Cefalometria , Crânio/diagnóstico por imagem , Acrocefalossindactilia/fisiopatologia , Adolescente , Adulto , Fatores Etários , Encéfalo/crescimento & desenvolvimento , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Análise por Pareamento , Valores de Referência , Crânio/crescimento & desenvolvimento , Tomografia Computadorizada por Raios XRESUMO
The distribution of equine leucocyte antigens (ELA) in horses affected by equine sarcoid tumours was determined and compared with unaffected controls. ELA-haplotype W3,B1 occurred more frequently in affected riding horses of Irish, Swiss and French background. The combined data for the three breeds resulted in a chi 2 value of 20.35 (P less than 0.0005 after correction). Simultaneously, ELA-specificity W11 was more frequently found in horses of Irish background, while W5 was found in Swiss and French horses with sarcoids. The combined data for haplotype W3,B1 and/or W5 specificity demonstrated, in the genetically closely-related Swiss and French horses, a highly significant difference in the occurrence of these haplotypes between affected horses and healthy controls (chi 2 = 28.69, P less than 0.00001 after correction). Thus, the results strongly suggest that the predisposition of horses to sarcoid is associated with or linked to the major histocompatibility complex.
