186,627 research outputs found
Syndromes associated with simple calvarial and complex craniofacial anomalies.
No full textCentral nervous system (CNS) development is a complex process of predetermined events that must occur in an ordered sequence to ensure normal ontogenesis. Various critical steps take place in a relatively short time (from the first few days to the first months of gestation). Both genetic and environmental insults may produce morphological defects. Early defects often result in nonviable embryos; later, complex craniofacial anomalies, mainly associated with brain damage, may be observed. The pathogenesis of congenital malformations is heterogeneous; sporadic cases are reported as well as recessive or dominant inheritance and chromosomal aberrations. Some of these syndromes have been identified as contiguous gene syndromes; the role of critical chromosomal regions and homeobox genes is discussed. Furthermore, these conditions present difficulties in regard to early diagnosis, surgical repair, and social impact
Manuale di patologia degli organi di senso.
No full textSegnala
a un collega Stampa scheda
Manuale di patologia degli organi di senso
Polimeni A., Iannetti G.
, Pivetti Pezzi P., Filipo Roberto
Titolo Universitario - Audiologia, Chirurgia maxillo - facciale, Oculistica, Otorinolaringoiatria, Chirurgia orale
febbraio 2014
ISBN: 9788821437397
Pagine: 408
Rilegatura: Brossura Cucita
Formato: 19,5 x 26,5
€ 69,00
Descrizione
L’obiettivo di questo testo è di illustrare le correlazione fisiopatologiche degli organi di senso in modo da sottolineare la necessità di un approccio integrato al paziente. Si tratta quindi di un volume compatto, centrato sulla corretta valutazione dei segni e sintomi da parte del clinico per orientare il paziente verso la visita specialistica; in questa ottica vengono illustrate le indagini strumentali per l’inquadramento delle patologie dell’apparato uditivo e visivo delle patologie del cavo orale e del distretto maxillofacciale
Residual and persistent Adie’s pupil after pediatric ophthalmoplegic migraine
No full textWe report on a 9-year-old girl diagnosed with ophthalmoplegic migraines who had been previously diagnosed, at age 7 years, with typical migraines with aura. After resolution of the third ophthalmoplegic migraine attack, the only evident residual clinical sign was Adie’s pupil. During 24-month follow-up, at age 11 years, a neurologic examination produced completely normal results. However, Adie’s pupil persisted. Adie’s tonic pupil can be associated with extraocular diseases, which were all excluded in this patient. The mechanisms underlying tonic pupil are not fully understood. This is the first
report, to the best of our knowledge, of an ophthalmoplegic migraine followed by persistent Adie’s pupil. Possible
pathogenic mechanisms are discussed
Effetti collaterali dei farmaci antiepilettici.
No full textEffetti collaterali comuni e rari nei bambini che assumono farmaci antiepilettici
Residual and persistent Adie's pupil after pediatric ophthalmoplegic migraine.
No full textWe report on a 9-year-old girl diagnosed with ophthalmoplegic migraines who had been previously diagnosed, at age 7 years, with typical migraines with aura. After resolution of the third ophthalmoplegic migraine attack, the only evident residual clinical sign was Adie's pupil. During 24-month follow-up, at age 11 years, a neurologic examination produced completely normal results. However, Adie's pupil persisted. Adie's tonic pupil can be associated with extraocular diseases, which were all excluded in this patient. The mechanisms underlying tonic pupil are not fully understood. This is the first report, to the best of our knowledge, of an ophthalmoplegic migraine followed by persistent Adie's pupil. Possible pathogenic mechanisms are discussed
Residual and persistent Adie's pupil after pediatric ophthalmoplegic migraine.
No full textWe report on a 9-year-old girl diagnosed with ophthalmoplegic migraines who had been previously diagnosed, at age 7 years, with typical migraines with aura. After resolution of the third ophthalmoplegic migraine attack, the only evident residual clinical sign was Adie's pupil. During 24-month follow-up, at age 11 years, a neurologic examination produced completely normal results. However, Adie's pupil persisted. Adie's tonic pupil can be associated with extraocular diseases, which were all excluded in this patient. The mechanisms underlying tonic pupil are not fully understood. This is the first report, to the best of our knowledge, of an ophthalmoplegic migraine followed by persistent Adie's pupil. Possible pathogenic mechanisms are discussed
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 α1 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 girl. 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 girl, while it is still present after a 20-month follow-up period in the 4-year-old girl 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. © 2009 Elsevier B.V. All rights reserved
- …
