Dravet syndrome

"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy

In response: No evidence of thalamic metabolic abnormality associated with continuous spike‐and‐wave during sleep

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/122439/1/epi13396.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/122439/2/epi13396_am.pd

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies (Currarino triad). We studied a 3-year-old girl with Currarino triad who had additional systemic features and performed array comparative genomic hybridisation to look for chromosomal abnormalities. This girl had the typical spectrum of anomalies of the CS including (a) partial sacral agenesis (hemisacrum with remnants of only sacral S1–S2 vertebrae and a residual S3 vertebral body) associated with complete coccygeal agenesis, (b) pre-intrasacral dermoid, (c) intra-dural lipoma, (d) ectopic anus and (e) tethered cord. She had, in addition, pre- and post-natal growth impairment (<3rd percentile), severe microcephaly (<−3 SD) with normal gyration pattern and lack of cortical thickening associated with a hypoplastic inferior vermis, facial dysmorphism, sensorineural deafness and decreased serum levels of IGF-1. A de novo 10.3-Mb duplication of 7q34–q35 and an 8.8-Mb deletion on 7q36 were identified in this patient. The Homeobox HLXB9 (CS) gene is contained within the deletion accounting for the CS phenotype including microcephaly. The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with sensorineural deafness and mental retardation syndrome (OMIM no. 608747) are discussed. To the best of our knowledge, this is the first reported case of a patient with distal 7q chromosomal imbalance and features of CS triad (including microcephaly) and the first documented case of a patient with normal gyration pattern microcephaly. The spectrum of associated anomalies in this newly recognised phenotype complex consists of growth failure, typical facial anomalies with additional (previously unreported) nervous system abnormalities (e.g. sensorineural deafness) and somatomedin C deficiency

Canonico Paolo Damanti della R. Cappella Palatina - verso

Botanico: Damanti, Paolo (1858-?). Professore di storia naturale nel collegio municipale di San Rocco a Palermo. Titolo e data manoscritti sul recto, dove compaiono anche le note: della R. Cappella Palatina; n. 11 dic. 1858 in Palermo; fot. 1900; autogr. Nota manoscritta sul verso: Can.co Paolo Damanti della R. Cappella Palatina nato in Palermo l’anno 1858-addì 11 Dicembre dal Barbiere Angelo Damanti ed Illuminata Panramo. Montata su cartone 163 x 109 mm. 1 fotografia : albumina ; 139 x 97 mm. Vai alla scheda bibliografica: https://galileodiscovery.unipd.it/discovery/fulldisplay?context=L&vid=39UPD_INST:VU1&search_scope=MyInst_and_CI&tab=Everything&docid=alma99001559030020604

Edificio centrale - lato nord

1 fotografia : albumin

Boschetto di Bambù

1 fotografia : albumin

Boschetto

1 fotografia : albumin

R. Orto Botanico di Palermo

Coperta posterior

Acquario con Papiri

1 fotografia : albumin