Autism in tuberous sclerosis

Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the temporal lobes may be associated with autism. No one factor alone (cognitive impairment, tuber localization, occurrence of infantile spasms, focal EEG abnormalities), can be causally linked with the abnormal behaviour. Autism may also reflect a direct effect of the abnormal genetic program. Incidence of autism associated with Tuberous Sclerosis may be significantly higher than the rates of cardiac and renal abnormalities, for which screening is routinely conducted in this population. Hopefully, early diagnosis of autism will allow for earlier treatment and the potential for better outcome for children with Tuberous Sclerosis. © 2004 Published by Elsevier Ltd. on behalf of European Paediatric Neurology Society

Autism: evidence of association with adenosine deaminase genetic polymorphism

Reduced adenosine deaminase (ADA) activity has been reported in sera of autistic children relative to controls. Additionally, the Asn allele of the ADA Asp8Asn polymorphism has been associated with reduced enzymatic activity. Therefore, we studied this polymorphism in autistic children and controls from two Italian populations. We observed a significantly elevated frequency of the low-activity Asn allele in the total sample of autistic cases relative to controls (P < 0.00001), and in both study populations (P < 0.001 and P < 0.025). We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism

Life flight, vuelo de vida. Transporte aéreo de pacientes en aeronaves presurizadas, fisiología de vuelo, fisiopatología, casuística y sugerencias

El transporte aerom&eacute;dico de pacientes en aviones ambulancia con cabina presurizada se ha desarrollado ampliamente en los &uacute;ltimos a&ntilde;os. El avance tecnol&oacute;gico en la industria aeron&aacute;utica y en equipos m&eacute;dicos, han permitido que el transporte sea m&aacute;s eficiente y seguro. Se presenta nuestra experiencia, Life Flight Vuelo de Vida, durante el per&iacute;odo 1987 &ndash; 2019, en el que se trasportaron 2102 pacientes.Life Flight, flight of life. Air transport of patients in Pressurized Aircraft,Flight Physiology, Pathophysiology, Casuistry and SuggestionsThe aeromedical transport of civilian patients in pressurized air ambulance has been widely used in recent years. The technological advances of the aeronautic industry and medical equipment permitted that transport can be safe and efficient