Valutazione dell’efficacia di un protocollo di igiene orale in pazienti pediatrici affetti da epilessia

Assessment of the effectiveness of an oral hygiene protocol in paediatric patients affected by epilepsy Aim of the work. The aim of the present study was to investigate the effectiveness of a specific oral hygiene protocol for epileptic paediatric subjects. Materials and methods A total of 30 epileptic patients were observed. They were divided into 3 groups according to their compliance level (A - high, B - medium, C - low). All patients were included in an oral hygiene prevention programme based on: instruction and motivation for home oral hygiene and for a correct diet; professional prophylaxis; follow-up at 2 weeks, 1 month, 2 months, 3 months, 6 months. Results The results show a significant decrease of the Quigley-Hein plaque index and the gingival growth index, both after 3 and 6 months. The authors observed a costant reduction of the index scores (degree 3) in all the 3 groups, with a subsequent increase in the number of patients without plaque (third measurement: 69,2% in group A; 42,9% in group B; 33,3% in group C). Conclusions Specific oral hygiene protocols showed a general improvement of the oral conditions of epileptic patients and of their degree of collaboration

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype

Interstitial deletions and pericentric inversions of chromosome 4 appear to be unusual phenomena. Here, we report the case of a 14-year-old boy with severe psychomotor retardation with a de novo 46,XY,der(4)del(p15.2p15.31)inv(4)(p15.2q13.3)del(4)(q13.2q13.2) karyotype. We used FISH analysis with YAC and BAC clones to characterise the inversion's breakpoints. A complex event with six breakpoints was found, characterised by a pericentric inversion and two deletions, the first on the short arm of chromosome 4 (4p) and the second on the long arm of chromosome 4 (4q). The deletion events had removed two segments, one of approximately 5 Mb, from 4p, outside the inversion, and the other 2 Mb from 4q, inside the inversion. These rearrangements were not found in the parents. Microsatellite marker analysis showed that the inversion carrying chromosome 4 was derived from the father. Bioinformatic analysis of the human genome sequence allowed us to identify several hemizygotic genes in the patient, which might be involved in the pathogenesis of this clinical phenotype

Eur. J. Med. Gen.

previous termInterstitial deletions and pericentric inversions of chromosome 4next term appear to be unusual phenomena. Here, we report the case of previous termanext term 14-year-old boy with severe psychomotor retardation with previous termanext term de novo 46,XY,der(previous term4)next termdel(p15.2p15.31)inv(previous term4)next term(p15.2q13.3)del(previous term4)next term(q13.2q13.2) karyotype. We used FISH analysis with YAC and BAC clones to characterise the previous terminversion'snext term breakpoints. previous termAnext term complex event with six breakpoints was found, characterised by previous terma pericentric inversion and two deletions,next term the first on the short arm of previous termchromosome 4next term (4p) and the second on the long arm of previous termchromosome 4next term (4q). The previous termdeletionnext term events had removed previous termtwonext term segments, one of approximately 5 Mb, from 4p, outside the previous terminversion,next term and the other 2 Mb from 4q, inside the previous terminversion.next term These rearrangements were not found in the parents. Microsatellite marker analysis showed that the previous terminversionnext term carrying previous termchromosome 4next term was derived from the father. Bioinformatic analysis of the human genome sequence allowed us to identify several hemizygotic genes in the previous termpatient,next term which might be involved in the pathogenesis of this clinical previous termphenotype.next ter

Benign infantile familial convulsions: Natural history of a case and clinical characteristics of a large Italian family

We present a patient (3 months old) with partial and generalized seizures who has a family history of seizures with a onset during the first 12 months of life. We diagnosed benign infantile familial convulsions (BIFC) and we did not introduce any antiepileptic therapy. We present clinical data of her family where 18 out of 35 members were affected; to our knowledge this is the largest family with BIFC. BIFC is transmitted as an autosomal dominant trait; recently it has been reported that the gene for BIFC maps to the long arm of chromosome 19. We conducted linkage analysis in our family providing significant exclusion of linkage between the BIFC locus phenotype and chromosome 19 markers, suggesting that a second locus is involved in this family

Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome

It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the threey-aminobutyric acid (GABA)(A) receptor subunits (GABRB3, GABRA5, GABRG3) located in the deleted region, a possible modification of peripheral markers of the GABAergic system was investigated in 12 subjects with Angelman's syndrome and 20 age-matched subjects (8 with idiopathic epilepsy and 12 not affected by neurologic diseases). The results confirmed a more severe clinical picture, and epilepsy syndrome in particular, in Angelman's syndrome patients with deletions versus patients without deletions. In contrast, biochemical study (based on dosage of plasma levels of GABA and diazepam binding inhibitor, an endogenous ligand of GABA(A) and peripheral benzodiazepine receptors, showed contradictory results: patients with Angelman's syndrome showed significantly higher levels of GABA and diazepam binding inhibitor than patients without neurologic impairment but significantly lower levels than epileptic controls

Miti e altre storie. La grande decorazione a Brescia 1680-1830

Un atlante storico-artistico illustrato: cinquanta palazzi e ville del bresciano rivelano la ricchezza del loro apparato decorativo. Il libro \ue8 l\u2019esito di un lungo e complesso lavoro di schedatura e ricerca, promosso dall\u2019Universit\ue0 degli Studi di Verona in collaborazione con il Centro di ricerca \u201cRossana Bossaglia\u201d e dedicato alla grande decorazione settecentesca a tema profano presente nei palazzi di Brescia e in alcune ville poste a corona della citt\ue0. A tutti gli edifici sono dedicate ampie schede di approfondimento, corredate da un ricco apparato fotografico