Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

Contains fulltext : 88199.pdf (publisher's version ) (Closed access)Incidental reports suggest that antenatal treatment of pyridoxine dependent seizures (PDS) may improve neurodevelopmental outcome of affected patients. Two families with PDS are reported, both with two affected siblings. Antenatal treatment with pyridoxine was instituted during the second pregnancy in each family (50 and 60 mg daily from 3 and 10 weeks of gestation, respectively). Perinatal characteristics and neurodevelopmental outcome at 4 (Family A) and 12 (Family B) years of age were compared between the untreated and treated child within each family. Meconium-stained amniotic fluid was present in both first pregnancies and abnormal foetal movements were noticed in one. In the treated infants, pregnancy and birth were uncomplicated. In family A, postnatal pyridoxine supplementation prevented neonatal seizures. Both children in family A were hypotonic and started walking after 2 years of age; both had white matter changes on MRI, and the first child was treated for squint. IQ was 73 and 98 in the antenatally untreated and treated child, respectively. The second child in family B developed seizures on the seventh day, because pyridoxine maintenance therapy had not been instituted after birth. Seizures responded rapidly to pyridoxine supplementation. MRI showed large ventricles and a mega cisterna magna. IQ was 80 and 106 in the antenatally untreated and treated child respectively. Both children had normal motor development. These results suggest that antenatal pyridoxine supplementation may be effective in preventing intrauterine seizures, decreasing the risk of complicated birth and improving neurodevelopmental outcome in PDS.1 maart 201

Sicurezza sociale,giuridificazione e politica interna mondiale. Due percorsi di J.Habermas

E’ costante in Habermas l’obbiettivo analitico della comunicazione come architettura realistica per la cornice della propria teoria dell’azione e dei sistemi sociali;tuttavia,per quanto animato dalla fiducia illuministica nel diritto come mediazione (anche se un po’ meno in tempi recenti) per quanto convinto della debolezza di ogni costruzione cosmopolitica ma fiducioso nel peso del discorso normativo,non si lascia sfuggire come l’attuale sistema complesso tenda ad organizzare il proprio autogoverno (il mercato come sistema) respingendo ai margini i vincoli tra le relazioni soggettive (private) e gli ambiti pubblici e della politica.Ne conseguirebbe che la divaricazione dall’eticità premoderna,avvenuta con la modernità,generatrice della differenziazione tra sfera morale e sfera politica,si avvierebbe alla rarefazione,mettendo in crisi il processo di relazione diritti umani-autorealizzazione morale dell’individuo/sovranità popolare-autorealizzazione etica nella comunità