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Neurologia e psichiatria dello sviluppo
No full texti vari capitoli della Neuropsichiatria Infantile sono presentati da vari esperti del settore divisi per argomenti neurologici e psichiatrici
Bilateral Periventricular Nodular Heterotopia with Amniotic Band Syndrome
No full textThe amniotic (constriction) band syndrome is characterized by distal ring constrictions, intrauterine amputations, and acrosyndactyly. External constriction by amniotic bands is the generally accepted mechanism: early amniotic rupture leads to formation of mesodermal fibrous strands that constrict, entangle, and amputate distal portions of limbs. Etiology is heterogeneous. Anecdotal cases involving central nervous system abnormalities (e.g., acrania, anencephaly, polymicrogyria, congenital bilateral perisylvian syndrome, neuronal heterotopia, septo-optic dysplasia, and spinal cord tethering) have been reported. We describe a 9-year-old girl with typical features of constriction band syndrome localized to the lower limbs who had also profound mental retardation and drug-resistant epilepsy associated with bilateral periventricular nodular heterotopia (a brain malformation of neuronal migration and proliferation caused by mutations in the X-linked filamin 1 gene [FLN1] on chromosome Xq28). The karyotype was normal, as was mutational screening for FLN1. The occurrence of bilateral periventricular nodular heterotopia in the context of amniotic band syndrome is novel (chance occurrence of both: 0.000004%). © 2007 Elsevier Inc. All rights reserved
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy
No full textWe report on the use of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14 years of age, who were affected by severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome, a channelopathy caused by abnormalities in the voltage-gated sodium channel neuronal type alpha 1 subunit (SCN1A) gene at 2q24. Both girls had pharmacoresistant epilepsy and developmental delay. Mutation analysis for the SCN1A gene revealed a missense mutation in exon 2 in the 4-year-old girt. Verapamil was co-administered in both children with a prompt response in controlling status epilepticus, myoclonic jerks, and partial and generalized seizures. The therapeutic effect lasted 13 months in the 14-year-old girt, while it is still present after a 20-month follow-up period in the 4-year-old girt who, in addition, has experienced improvement in motor and language development. The verapamil vVg-CCB, which crosses the blood-brain barrier (BBB): (a) inhibits the P-glycoprotein, an active efflux transporter protein expressed in normal tissue, including the brain, which is believed to contribute to the in situ phenomenon of multidrug resistance; and (b) may regulate membrane depolarization induced by abnormal sodium channels functions by modulating the abnormal Ca(++) influxes into neurons with subsequent cell resting. This is the first report on long-lasting verapamil therapy in SMEI The functional consequences of such in vivo modulating effects on Ca(++) channels could contribute to rational targeting for future molecular therapeutic approaches in pharmacoresistant epileptic channelopathies. (C) 2009 Elsevier B.V. All rights reserved
Pigmentary Mosaicism, Subcortical Band Heterotopia, and Brain Cystic Lesions
No full textA 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed hypoplastic corpus callosum (primarily posterior), subcortical band heterotopia, and diffuse subcortical, periventricular cystic-like lesions. Similar dysmorphic features were observed in the child's mother, but with no imaging abnormalities. The facial phenotype coupled with the cysts in the brain was strongly reminiscent of the oculocerebrorenal Lowe syndrome. Full chromosome studies in the parents and the proband and mutation analysis on peripheral blood lymphocytes (and on skin cultured fibroblasts from affected and unaffected skin areas in the child) in the genes for subcortical band heterotopia (DCX (Xq22.3 similar to q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23 similar to q24)] were unrevealing. This constellation of multiple congenital anomalies including ski
Riqualificazione del Lungomare di Fregene
No full textIl progetto di Riqualificazione del Lungomare di Fregene, vincitore dell'omonimo Concorso Internazionale, bandito nel 2006, dal Comune di Fiumicino (RM), si sviluppa sia sul piano stradale che su una piastra attrezzata rialzata, ove trovano alloggio destinazioni commerciali e infrastrutture di servizio. Un articolato progetto di suolo, unito all'installazione di molteplici utilities, restituisce qualità urbana e architettonica a un waterfront, che da tempo versa in un avanzato stato di degrado.
Il saggio di presentazione ne illustra gli sviluppi attraverso testi, schizzi, disegni tecnici, schede e diagrammi funzionali.
Un capitolo importante di questo intervento è rappresentato dal tema della mobilità. Nel progetto, infatti, si giustappongono, organizzandosi in virtuose complementarietà, i percorsi pedonali, i carrabili e i ciclabili dell’intera fascia lungomare. Nello specifico l’area viene dotata di una pista ciclabile, di una circolazione veicolare ad anello (con senso unico di marcia e dissuasori di velocità), di parcheggi in linea su tutto il tratto lungomare e di una strada pedo-carrabile dedicata esclusivamente all’accesso veicolare di emergenza e allo spazio di manovra per i gli ospiti degli stabilimenti balneari. Particolare attenzione è stata posta alla regolamentazione e messa in sicurezza degli accessi carrabili e pedonali agli arenili, che vengono conservati e salvaguardati. L'estensivo miglioramento e la dotazione infrastrutturale prevista dal progetto garantiscono l’attivazione di un servizio di trasporto pubblico urbano, oggi non possibile a causa delle condizioni di degrado in cui versa sia l’arteria stradale principale longitudinale che quelle di collegamento trasversale.The project of redevelopment of the roman waterfront
of Fregene takes place both on the street level and on a raised equipped plate with commercial services and infrastructures. An extensive redevelopment to restore urban
and architectural quality to a waterfront, which has
long been in an advanced state of degradation.
The presentation essay illustrates the choices through texts, sketches, technical drawings, and functional diagrams.
An important chapter of this intervention is the theme of mobility. In fact, in the project, the pedestrian paths, the vehicular roads and the cycle paths, of the entire seafront, virtuously intertwine in good complementarity. Specifically, the area is equipped with a cycle track, with an anular vehicle circulation (with single direction of travel and speed bollards), with an on-line parking on the entire stretch of waterfront and a pedestrian road, open only to the emergency vehicle access and for the maneuvering space for the guests of the bathing facilities. Particular attention has been dedicated to the regulation and safety of the pedestrian access to the beaches, which are preserved and safeguarded. The extensive improvement and the level of infrastructures, provided by the project, guarantee the activation of an urban public transport service, today not possible due to the degradation conditions in which both the longitudinal main road and the cross-link roads are suffering
Ohtahara syndrome with emphasis on recent genetic discovery
No full textOhtahara syndrome or Early Infantile Epileptic Encephalopathy (EIEE) with Suppression-Burst, is the most severe and the earliest developing age-related epileptic encephalopathy. Clinically, the syndrome is characterized by early onset tonic spasms associated with a severe and continuous pattern of burst activity. It is a debilitating and early progressive neurological disorder, resulting in intractable seizures and severe mental retardation. Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18- 1) gene at 9q34-1 (EIEE-4 variant). A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME-ErbB4 mutations) versus the EIEE spectrum of disorders. © 2011 The Japanese Society of Child Neurology
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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