Curriculum Tortorella

Transcript

Formato Europeo per il Curriculum Vitae
Informazioni Personali
NOME: TORTORELLA Gaetano
Telefono +39 (090) 221 2911
Fax 0902930414
E-mail - [email protected]
Nazionalità: italiana
Data di Nascita 11/10/1948
Esperienza Lavorativa
Date (da - a)
01/06/2009 Nome e indirizzo del datore di lavoro: Azienda Ospedaliera Universitaria ,
Tipo di azienda o settore: Sanità
Tipo di impiego: Dirigente Medico
Principali mansioni e responsabilità
Direttore UOC di Neuropsichiatria Infantile Dipartimento Materno-Infantile
Date (da - a)
01/10/2007 Nome e indirizzo del datore di lavoro: Università degli Studi di Messina,
Tipo di azienda o settore
Istruzione
Tipo di impiego
Professore Associato
Principali mansioni e responsabilità: Direttore Scuola di Specializzazione in Neuropsichiatria Infantile
Date (da - a)
Istruzione
Tipo di impiego : Professore Associato
Principali mansioni e responsabilità: Professore associato di Neuropsichiatria Infantile.
Date (da - a)
Istruzione
Tipo di impiego: Ricercatore Confermato
Principali mansioni e responsabilità: Attività didattica, scientifica, assistenziale.
Date (da - a)
01/11/1973 Nome e indirizzo del datore di lavoro: Università degli Studi Messina,
Istruzione
Tipo di impiego: Assistente Incaricato
Principali mansioni e responsabilità
Attività didattica, scientifica, assistenziale.
ISTRUZIONE E FORMAZIONE
Date (da - a)
- 28/10/1976
Nome e tipo di istituto di istruzione o formazione
Università degli Studi di Pisa, Pisa - Italia
Titolo di Studio: Spec.ne in Neuropsichiatria Infantile
Qualifica conseguita: Specialista in Neuropsichiatria Infantile
Livello nella classificazione nazionale
Date (da - a)
- 31/07/1973
Nome e tipo di istituto di istruzione o formazione
Università degli Studi di Messina, Messina - Italia
Titolo di Studio: Laurea in Medicina e Chirurgia
Qualifica conseguita: Medico-chirurgo
Livello nella classificazione nazionale
110 con lode
Pubblicazioni
Titolo
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
Autori
Messina S, Tortorella G, Concolino D, Spanò M, D'Amico A, Bruno C, Santorelli
Abstract
Anno pubblicazione e riferimenti
Neurology.2009 Nov. 10; 73 (19):1599-601.
Anno: 2009 - ISBN:
Titolo: Recurrent rearrangements in synaptic and neurodevelopmental alpha-dystroglycan, cerebellar hypoplasia, and
epilepsy.
Autori: Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V,
Abstract
CONTEXT: Results of comparative genomic hybridization studies have suggested that rare copy number variations
(CNVs) at numerous loci are involved in the cause of mental retardation, autism spectrum disorders, and schizophrenia.
OBJECTIVES: To provide an estimate of the collective frequency of a set of recurrent or overlapping CNVs in 3 different
groups of cases compared with healthy control subjects and to assess whether each CNV is present in more than 1
clinical category. DESIGN: Case-control study. SETTING: Academic research. PARTICIPANTS: We investigated 28
candidate loci previously identified by comparative genomic hybridization studies for gene dosage alteration in 247
cases with mental retardation, in 260 cases with autism spectrum disorders, in 236 cases with schizophrenia or
schizoaffective disorder, and in 236 controls. MAIN OUTCOME MEASURES: Collective and individual frequencies of
the analyzed CNVs in cases compared with controls. RESULTS: Recurrent or overlapping CNVs were found in cases at
39.3% of the selected loci. The collective frequency of CNVs at these loci is significantly increased in cases with autism, in
cases with schizophrenia, and in cases with mental retardation compared with controls (P < .001, P = .01, and P = .001,
respectively, Fisher exact test). Individual significance (P = .02 without correction for multiple testing) was reached for
the association between autism and a 350-kilobase deletion located at 22q11 and spanning the PRODH and DGCR6
genes. CONCLUSIONS: Weakly to moderately recurrent CNVs (transmitted or occurring de novo) seem to be causative
or contributory factors for these diseases. Most of these CNVs (which contain genes involved in neurotransmission or in
synapse formation and maintenance) are present in the 3 pathologic conditions (schizophrenia, autism, and mental
retardation), supporting the existence of shared biologic pathways in these neurodevelopmental disorders.
Anno pubblicazione e riferimenti : Arch Gen Psychiatry. 2009 Sep;66(9):947-56
Anno: 2009 - ISBN:
Titolo: Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic EPILEPSY
Autori: Provenzano G, Mannarino E, Annesi F, De Marco EV, Rocca FE, Greco V,
Abstract
Hum
Anno: 2009 - ISBN:
Genet.
2009
Aug;126(2):337
Titolo: Visual evoked potentials in succinate semialdehYDE dehydrogenase (SSADH) deficiency.
Autori: Di Rosa G, Malaspina P, Blasi P, Dionisi-Vici C, Rizzo C, Tortorella G,
Abstract
n mammals, increased GABA in the central nervous system has been associated with abnormalities of visual evoked
potentials (VEPs), predominantly manifested as increased latency of the major positive component P100. Accordingly,
we hypothesized that patients with a defect in GABA metabolism, succinate semialdehyde dehydrogenase (SSADH)
deficiency (in whom supraphysiological levels of GABA accumulate), would manifest VEP anomalies. We evaluated
VEPs on two patients with confirmed SSADH deficiency. Whereas the P100 latencies and amplitudes for binocular VEP
analyses were within normal ranges for both patients, the P100 latencies were markedly delayed for left eye (OS) (and
right eye (OD), patient 1) and monocular OS (patient 2): 134-147 ms; normal <118 ms. We hypothesize that elevated
GABA in ocular tissue of SSADH patients leads to a use-dependent downregulation of the major GABAergic receptor in
eye, GABA(C), and that the VEP recordings' abnormalities, as evidenced by P100 latency and/or amplitude
measurements, may be reflective of abnormalities within visual systems. This is a preliminary finding that may suggest
the utility of performing VEP analysis in a larger sample of SSADH-deficient patients, and encourage a
neurophysiological assessment of GABA(C) receptor function in Aldh5a1(-/-) mice to reveal new pathophysiological
mechanisms of this rare disorder of GABA degradation.
J
Inherit
Anno: 2009 - ISBN:
Metab
Dis.
2009
May
30.
Titolo: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a a population study.
Autori: Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello
Abstract
BACKGROUND: Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alphaDG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative
glycosyltransferases. OBJECTIVES: The aim of the study was to establish the prevalence of mutations in the six genes in
the Italian population and the spectrum of clinical and brain MRI findings. METHODS: As part of a multicentric study
involving all the tertiary neuromuscular centers in Italy, FKRP, POMT1, POMT2, POMGnT1, fukutin, and LARGE were
screened in 81 patients with CMD and alpha-DG reduction on muscle biopsy (n = 76) or with a phenotype suggestive of
alpha-dystroglycanopathy but in whom a muscle biopsy was not available for alpha-DG immunostaining (n = 5).
RESULTS: Homozygous and compound heterozygous mutations were detected in a total of 43/81 patients (53%), and
included seven novel variants. Mutations in POMT1 were the most prevalent in our cohort (21%), followed by POMT2
(11%), POMGnT1 (10%), and FKRP (9%). One patient carried two heterozygous mutations in fukutin and one case
harbored a new homozygous variant in LARGE. No clear-cut genotype-phenotype correlation could be observed with
each gene, resulting in a wide spectrum of clinical phenotypes. The more severe phenotypes, however, appeared to be
consistently associated with mutations predicted to result in a severe disruption of the respective genes.
CONCLUSIONS: Our data broaden the clinical spectrum associated with mutations in glycosyltransferases and provide
data on their prevalence in the Italian population.
Neurology.
Anno: 2009 - ISBN:
2009
May
26;72(21):1802-9
Titolo: A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
Autori: Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.
Abstract
Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been
recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy. We
describe the first CDKL5 mutation detected in a male individual with 47,XXY karyotype. This previously unreported, de
novo, mutation truncates the large CDKL5 COOH-terminal region, thought to be crucial for the proper sub-cellular
localization of the CDKL5 protein. The resulting phenotype is characterized by a severe early-onset epileptic
encephalopathy, global developmental delay, and profound intellectual and motor impairment with features
reminiscent of Rett syndrome. In light of the data presented we discuss the possible phenotypic modulatory effects of the
supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering
the causal involvement of CDKL5 in developmentally delayed males with early-onset seizures.
Am
J
Anno: 2009 - ISBN:
Med
Genet
A.
2009
Feb;149A(2):232-6
Titolo: POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Autori: Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R,
Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, , Tessa A,
Toscano A, Tortorella G
Abstract
Mutations in POMT1 and POMT2 genes were originally identified in Walker-Warburg syndrome (WWS) and
subsequently reported in patients with milder phenotypes characterised by mental retardation with or without brain
abnormalities and without ocular malformations. As part of a multicentric Italian study we screened the POMT1 and
POMT2 genes in 61 congenital muscular dystrophy (CMD) patients with alpha-dystroglycan reduction on muscle biopsy
and/or clinical and radiological findings suggestive of the known forms of CMD with alpha-dystroglycan deficiency.
The aim of the study was to establish how frequently mutations in POMT1 and POMT2 occur in CMD patients in the
Italian population and to evaluate the spectrum of associated phenotypes. Thirteen patients showed mutations in
POMT1 and five harboured mutations in POMT2, accounting for a total of 20 different mutations, eight of which were
novel (two in POMT1 and six in POMT2). Normal brain MRI associated with mental retardation and microcephaly was
the most frequent finding in patients with mutations in POMT1 (six out of 13), but was also found in a patient with
POMT2 mutations. Predominant cerebellar hypoplasia was also frequent both in patients with POMT1 (three out of 13)
and POMT2 (three out of 5) mutations. A MEB phenotype with frontal cortical dysplasia and pons abnormalities was
found in two patients with POMT1 and in one with POMT2 mutations, while a WWS phenotype was only found in a
case with mutations in POMT1. Mutations causing frameshifts and stop codons were responsible for the more severe
phenotypes. Our results provide further evidence that, as previously reported for FKRP, the array of mutations in
POMT1 and POMT2 is ample and the spectrum of associated phenotypes is wider than initially thought.
Neuromuscul
Anno: 2008 - ISBN:
Disord.
2008
Jul;18(7):565-71.
Titolo: Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy
and mental retardation.
Autori: Di Rosa G, Pustorino G, Spano M, Campion D, Calabrò M, Aguennouz M, Caccamo D, Legallic S, Sgro DL,
Bonsignore M, Tortorella G.
Abstract
Type I hyperprolinemia (HPI) is an autosomal recessive disorder caused by proline oxidase deficiency. This enzyme is
encoded by the proline dehydrogenase (PRODH) gene on 22q11. The functional consequences of different PRODH
mutations on proline oxidase activity have been characterized in vitro. Few patients with HPI with epilepsy and
cognitive/behavioral disturbances have been described so far. We screened four Italian children with HPI presenting
epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotypephenotype correlation.
Psychiatr
Anno: 2008 - ISBN:
Genet.
2008
Feb;18(1):40-2.
Titolo: Early impairment of synaptic plasticity in patients with Down's syndrome.
Autori: Battaglia F, Quartarone A, Rizzo V, Ghilardi MF, Di Rocco A, Tortorella G, Girlanda P.
Abstract
We investigated synaptic plasticity in persons with Down' syndrome (DS) and control subjects used paired associative
stimulation (PAS) protocol, a paradigm capable of producing long-term potentiation (LTP)-like changes in the
sensorimotor system. After PAS, patients showed less LTP-like plasticity compared to control subjects. Abnormal motor
cortex synaptic plasticity may play a role in the development of motor signs in DS
Neurobiol
Anno: 2008 - ISBN:
Aging.
2008
Aug;29(8):1272-5.
Titolo: Status gelasticus associated with levetiracetam as add-on treatment.
Autori: Pustorino G, Spano M, Sgro DL, Di Rosa G, Tricomi G, Bellantone D, Tortorella G
Abstract
Epileptic
Anno: 2007 - ISBN:
Disord.2007,9(2):186-189.
Titolo: Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms
Autori: Di Rosa G, Attinà S, Spanò M, Ingegneri G, Sgrò DL, Pustorino G, Bonsignore M, Trapani-Lombardo V,
Tortorella G.
Abstract
MTHFR gene variants C677T and A1298C seem to be related to an increased risk of migraine. Folates' metabolism could
play a role in the pathophysiology of migraine. We supplemented 16 children with migraine, hyperhomocysteinemia,
and MTHFR polymorphisms with folic acid and obtained a resolution/reduction of migraine attacks. Although the
mechanism leading to these effects has been not made clear, we believe that the use of folic acid needs further
investigations in migraineurs with hyperhomocysteinemia and MTHFR variants. A randomized, double-blind, placebo
controlled crossover trial is needed to support these findings.
Headache.
Anno: 2007 - ISBN:
2007
Oct;47(9):1342-4
Titolo: Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Autori: Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari
R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, Lepiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P,
Vignoli A, Be
Abstract
OBJECTIVES: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from
Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.
MATERIALS AND METHODS: Twenty-seven families (86 affected individuals, 52 women) with at least two affected
members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each
exon of the EFHC1 gene was amplified and sequenced using intronic primers. RESULTS: Two heterozygous mutations
were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was
previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease.
In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME.
CONCLUSIONS: The results of our study extend the distribution of EFHC1 mutations to the white population and
confirm the high level of genetic heterogeneity associated with JME.
Epilepsia.
Anno: 2007 - ISBN:
2007
Sep;48(9):1686-90
Titolo: Ictal and interictal EEG abnormalities in ADHD children recorded over night by video-polysomnography.
Autori: Silvestri R, Gagliano A, Calarese T, Aricò I, Cedro C, Condurso R, Germanò E, Vita G, Tortorella G.
Abstract
In this paper we explore the prevalence of ictal and interictal epileptiform discharges (IEDs) and sleep disorders in
ADHD children referred to a sleep clinic for all night video-PSG. Forty-two ADHD outpatients (35 males and 7 females)
underwent video-PSG and a behavioural/neuropsychological assessment. Spearman correlation coefficients (p<0.05
criterion level) were used to assess the association between cognitive, behavioural, clinical (co-morbidity), sleep (sleep
efficiency) and EEG (seizures, IEDs, localization of IEDs foci) variables. Sleep disorders were found in 86% of ADHD
children; among these, 26% had RLS. 53.1% of ADHD children had IEDs (28.2% centro-temporal spikes, 12.5% frontal
spikes, 9.3% temporal-occipital spikes and 2.3% generalized S-W). Nocturnal seizures were recorded in three patients:
two with atypical interictal rolandic spikes and one with left frontal slow abnormalities. A significant relationship
(p<0.05) emerges between nocturnal seizures and WISC-R IQ score and visual-spatial memory test and between some
cognitive variables and interictal rolandic spikes. High levels of inattention, impulsivity/hyperactivity and oppositional
behaviours were related (p<0.01 or 0.05) with Restless Leg Syndrome diagnosis. In conclusion, ADHD is a condition
often associated with EEG epileptiform abnormalities. Seizures/IEDs presence seems to play a role on cognitive abilities,
conversely sleep disorders have a stronger impact on behavioural rather than cognitive indicators.
Epilepsy
Anno: 2007 - ISBN:
Res.
2007
Jul;75(2-3):130-
Titolo: Neuropsychological deficits in monozygotic twins with childhood epilepsy with occipital paroxysms.
Autori
Gagliano A, Ferlazzo E, Germanò E, Calarese T, Magazù A, Sferro C, Tortorella G.
Abstract
We report a unique pair of monozygotic twins with childhood epilepsy with occipital paroxysms who showed subtle
cognitive deficits. The twin with a more severe epileptic disorder showed a more severe impairment of cognitive
functioning. We suggest that epileptic focus may act as an element of disturbance in the development of primary
functions and may give rise to a neuropsychological impairment proportionate to the severity of the epileptic activity.
J
Clin
Anno: 2007 - ISBN:
Exp
Neuropsychol.
2007
Jul;29(5):488-95.
Titolo: Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
Autori: Mei D, Parrini E, Pasqualetti M, Tortorella G, Franzoni E, Giussani U, Marini C, Migliarini S, Guerrini R.
Abstract
BACKGROUND: Subcortical band heterotopia (SBH, or double cortex syndrome) is a neuronal migration disorder
consisting of heterotopic bands of gray matter located between the cortex and the ventricular surface, with or without
concomitant pachygyria. Most cases show diffuse or anteriorly predominant (A>P) migration abnormality. All familial
and 53% to 84% of sporadic cases with diffuse or A>P SBH harbor a mutation of the DCX gene, leaving the genetic
causes unexplained, and genetic counseling problematic, in the remaining patients. Our purpose was to verify the extent
to which exonic deletions or duplications of the DCX gene would account for sporadic SBH with A>P gradient but
normal gene sequencing. METHODS: We identified 23 patients (22 women, 1 man) with sporadic, diffuse, or anteriorly
predominant SBH. After sequencing the DCX gene and finding mutations in 12 (11 women, 1 man), we used multiplex
ligation-dependent probe amplification (MLPA) to search for whole-exon deletions or duplications in the 11 remaining
women. We used semiquantitative fluorescent multiplex PCR (SQF-PCR) and Southern blot to confirm MLPA findings.
RESULTS: MLPA assay uncovered two deletions encompassing exons 3 to 5, and one involving exon 6, in 3 of 11 women
(27%) and raised the percentage of DCX mutations from 52% to 65% in our series. SQF-PCR performed in all three
women and Southern blot analysis performed in two confirmed the deletions. CONCLUSIONS: MLPA uncovers large
genomic deletions of the DCX gene in a subset of patients with SBH in whom no mutations are found after gene
sequencing. Deletions of DCX are an underascertained cause of SBH.
Neurology.
Anno: 2007 - ISBN:
2007
Feb
6;68(6):446-50.
Titolo: Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
Autori: Bonsignore M, Tessa A, Di Rosa G, Piemonte F, Dionisi-Vici C, Simonati A, Calamoneri F, Tortorella G,
Santorelli FM.
Abstract
We detected a novel CLN1 mutation (c.125-15t>g) in two Italian siblings. The clinical phenotype is that of a variant lateinfantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures.
Ultrastructurally, granular osmiophilic deposits were found in skin biopsy of both patients. The novel mutation occurs
in the acceptor sequences for splicing and leads to skipping of multiple exons. This predicts a protein lacking part or all
of the active site of the enzyme and the palmitate-binding pocket. Consequently, biochemical activity of the palmitoyl
protein thioesterase-1 enzyme was drastically reduced. The new mutation was not identified in a large set of ethnically
matched control chromosomes. Our findings support the notion that CLN1 patients are not rare in Southern Europe and
facilitate DNA-based mutation and carrier testing in this family.
Eur
J
Anno: 2006 - ISBN:
Paediatr
Neurol.
2006
May;10(3):154-6.
Titolo: antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T
and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome).
Autori: Nucera C, Vaccaro M, Moleti M, Priolo C, Tortorella G, Angioni A, Ientile R, Violi MA, Loda M, Trimarchi F,
Vermiglio F.
Abstract
CONTEXT: Antiphospholipid syndrome (APS, or Hughes' syndrome) is a systemic autoimmune disorder characterized
by antiphospholipid antibody positivity, which may lead to arterial and/or venous thrombosis. Hyperhomocysteinemia
(HHcy), variously associated with 5,10-methylene tetrahydrofolate reductase (MTHFR) gene point mutations, is also
implicated in thromboembolic events. The association of APS and HHcy has already been described but has never been
reported in patients with DiGeorge syndrome (DGS), the most common contiguous-gene deletion syndrome (22q11.2) in
humans, whose phenotype conversely includes bleeding disorders. DATA ACQUISITION: In this report, we present the
case of a 19-yr-old patient with a past medical history of learning disability and obesity affected with idiopathic
hypoparathyroidism, metabolic syndrome, and diffuse vasculitis disorders. He was referred to our endocrinology clinic
for the management of severe hypocalcemia. At the time of presentation he had been taking antiepileptic drugs for 2 wk
and displayed facial dysmorphism (short neck, micrognathia, a small mouth, hypoplastic nasal alae, eye hypertelorism,
and low-set simple ears). DGS was suspected and confirmed by both fluorescence in situ hybridization analysis and
single nucleotide polymorphism-array analysis, which revealed contiguous gene microdeletion of the chromosome
22q11.2 in the minimal DiGeorge critical region, specifically at the gene locus D22S75 (N25). CONCLUSIONS: APS,
revealed by anti-beta-2-glycoprotein and anti-prothrombin antibodies positivity, and moderate HHcy related to
heterozygous C677T and A1298C point mutations of the MTHFR gene were identified as a possible cause of thrombotic
disorder responsible for the widespread presence of cutaneous and cerebral lesions.
J
Clin
Anno: 2006 - ISBN:
Endocrinol
Metab.
2006
Jun;91(6):2021-6.
Titolo: Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up
Autori: Di Rosa G, Spanò M, Pustorino G, Ferrari MD, Stam AH, Sgrò DL, Mannarino E, Bonsignore M, Tortorella G.
Abstract
Neurology.
Anno: 2006 - ISBN:
2006
Jan
10;66(1):146
Titolo: Attention deficit and hyperactivity disorders in the offspring of mothers exposed to mild-moderate iodine
deficiency: a possible novel iodine deficiency disorder in developed countries
Autori: Vermiglio F, Lo Presti VP, Moleti M, Sidoti M, Tortorella G, Scaffidi G, Castagna MG, Mattina F, Violi MA, Crisà
A, Artemisia A, Trimarchi F.
Abstract
Over a period of almost 10 yr, we carried out a prospective study of the neuropsychological development of the
offspring of 16 women from a moderately iodine-deficient area (area A) and of 11 control women from a marginally
iodine-sufficient area (area B) whose thyroid function had been monitored during early gestation. Attention deficit and
hyperactivity disorder (ADHD) was diagnosed in 11 of 16 area A children (68.7%) but in none from area B. Total
intelligence quotient score was lower in area A than in area B children (92.1 +/-7.8 vs. 110 +/- 10) and in ADHD children
when compared with both non-ADHD children from the same area and control children (88.0 +/- 6.9 vs. 99.0 +/- 2.0 and
110 +/- 10, respectively). Seven of 11 ADHD children (63.6%) were born to the seven of eight area A mothers who
became hypothyroxinemic at early gestation, whereas only one of five non-ADHD children was born to a woman who
was hypothyroxinemic at 20 wk of gestation. So far, a similar prevalence of ADHD has been reported only in children
with generalized resistance to thyroid hormones. This might suggest a common ADHD pathogenetic mechanism
consisting either of reduced sensitivity of the nuclear receptors to thyroid hormone (generalized resistance to thyroid
hormones) or reduced availability of intracellular T3 for nuclear receptor binding. The latter would be the ultimate
consequence of maternal hypothyroxinemia (due to iodine deficiency), resulting in a critical reduction of the source of
the intracellular T3 available to the developing fetal brain.
J
Clin
Anno: 2004 - ISBN:
Endocrinol
Metab.
2004
Dec;89(12):6054-60.
Titolo: Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth
malformation.
Autori: N Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B.
Abstract
Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous
autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain
axial images, a condition referred to as "molar tooth on imaging" (MTI) or the "molar tooth sign." The current literature
on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically
homogeneous cases for genetic purposes. So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with
JS. Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal
phenotype. We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus
"CORS2." The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the
MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes.
Am
J
Anno: 2003 - ISBN:
Hum
Genet.
2003
Sep;73(3):663-70.
Titolo: Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Autori: Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani
L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S.
Abstract
DCX mutations cause mental retardation in male subjects with lissencephalypachygyria and in female subjects with
subcortical band heterotopia (SBH). We observed four families in which carrier women had normal brain magnetic
resonance imaging (MRI) and mild mental retardation, with or without epilepsy. Affected male subjects had SBH or
pachygyria-SBH. In two families, the phenotype was mild in both genders. In the first family, we found a tyr138his
mutation that is predicted to result in abnormal folding in the small hinge region. In the second family, we found an
arg178cys mutation at the initial portion of R2, in the putative beta-sheet structure. Carrier female subjects with normal
MRI showed no somatic mosaicism or altered X-inactivation in lymphocytes, suggesting a correlation between mild
mutations and phenotypes. In the two other families, with severely affected boys, we found arg76ser and arg56gly
mutations within the R1 region that are predicted to affect DCX folding, severely modifying its activity. Both carrier
mothers showed skewed X-inactivation, possibly explaining their mild phenotypes. Missense DCX mutations may
manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and SBH in boys. Mutation
analysis in mothers of affected children is mandatory, even when brain MRI is normal.
Ann
Anno: 2003 - ISBN:
Neurol.
2003
Jul;54(1):30-7
Titolo: Highly disabling cerebellar presentation in Huntington disease
Autori: Squitieri F, Pustorino G, Cannella M, Toscano A, Maglione V, Morgante L, Tortorella G.
Abstract
Eur
Anno: 2003 - ISBN:
J
Neurol.
2003
Jul;10(4):443-4.
Titolo: Chiari I malformation mimicking myasthenia gravis.
Autori: Rodolico C, Girlanda P, Nicolosi C, Vita G, Bonsignore M, Tortorella G.
Abstract
J
Neurol
Anno: 2003 - ISBN:
Neurosurg
Psychiatry.
2003
Mar;74(3):393
Titolo: Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene
Autori: Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R.
Abstract
OBJECTIVE: To examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM
# 300049) in two families segregating a missense mutation and a C-terminal deletion of the filamin 1(FLN1) gene.
BACKGROUND: Classical familial BPNH, an X-linked dominant disorder, has been associated with protein truncations
or splicing mutations, which tend to cluster at the N-terminal of the FLN1 protein, causing severe predicted loss of the
protein function. The clinical syndrome includes symmetrical contiguous nodular heterotopia lining the lateral
ventricles, epilepsy, mild retardation to normal cognitive level in affected females, and prenatal lethality in hemizygous
boys. METHODS: Clinical examination, cognitive testing, MRI, mutation analysis (direct sequencing, single-strand
conformation polymorphism) in seven patients from two families with BPNH. RESULTS: In Family 1, harboring an A >
T change in exon 2 (E82V), heterotopic nodules were few, asymmetric, and noncontiguous. Five boys born from affected
females had died unexpectedly early in life. In Family 2, harboring an 8 base pair deletion in exon 47 (7627_7634del
TGTGCCCC), heterotopic nodules were thick and contiguous. Affected females in both families showed normal to
borderline IQ and epilepsy. CONCLUSION: Missense mutations and distal truncations consistent with partial loss of
FLN1 function cause familial BPNH with the classical clinical phenotype including epilepsy and mild mental
retardation, if any. However, missense mutations have milder anatomic consequences in affected females and are
possibly compatible with live birth but short survival of boys.
Neurology.
Anno: 2002 - ISBN:
2002
Mar
Titolo: Familial unilateral and bilateral occipital calcifications and epilepsy.
26;58(6):916-21
Autori: Tortorella G, Magaudda A, Mercuri E, Longo M, Guzzetta F.
Abstract
Neuropediatrics.
Anno: 1993 - ISBN:
1993
Dec;24(6):341-2.
Titolo: Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve.
Autori: Guzzetta F, Tortorella G, Cardia E, Ferrière G.
Abstract
Dev
Med
Anno: 1986 - ISBN:
Child
Neurol.
1986
Feb;28(1):62-8.
CAPACITÀ E COMPETENZE PERSONALI
L’attività didattica del prof. Tortorella è documentata dai numerosi insegnamenti di cui è titolare presso 5 corsi di laurea
e presso 3 scuole di specializzazione; dal 2000 è coordinatore del corso di laurea triennale per Terapisti della
Neuropsicomotricità dell’Età Evolutiva. E’ stato docente di numerosi corsi di aggiornamento nell’ambito del programma
ECM e in Master universitari. In atto è Direttore della Scuola di Specializzazione in Neuropsichiatria Infantile e Direttore
del Master di I livello in Neuropsicopatologia dell’apprendimento
L'attivita' scientifica del prof. Tortorella e' documentata da oltre 180 pubblicazioni su riviste italiane e straniere, tutte
inerenti argomenti di neuropsichiatria infantile; molti di questi lavori sono stati oggetto di relazioni ufficiali in congressi
nazionali ed internazionali.
Gli interessi scientifici del prof. Tortorella si sono orientati verso tutti i settori della Neuropsichiatria Infantile, dalle
problematiche di psi¬copatologia infantile a quelle di neurologia pediatrica. Nell'ambito della psicopatologia dell'età
evolutiva ha pubblicato lavori originali sulle psiconevrosi infantili, sulle sequele neuropsichiatriche nei traumi cranici,
sulla semeiologia delle turbe psicopatologiche nelle epilessie dell'infanzia, oltre a numerosi interventi sulle
problematiche assistenziali e di inserimento dei bambini con handicap neuropsichici. Per quanto concerne gli aspetti
neuropediatrici si è particolarmente dedicato allo studio delle patologie pre¬coci dello sviluppo neurocogniti¬vo, di
patologie neurodegenerative, di malattie neuromuscolari; gran parte della sua produzione scientifica si è rivolta alle
malattie convulsivanti dell'infanzia e agli studi di elettroencefalografia in eta' evolutiva.
L’ attività assistenziale del prof. Gaetano Tortorella si è svolta ininterrottamente dal 1973 a tutt’oggi presso la Clinica di
Neuropsichiatria Infantile del policlinico universitario; il suo interesse è stato rivolto alla diagnosi ed al trattamento delle
molteplici patologie neurologiche e psicopatologiche dell’infanzia con particolare approfondimento delle problematiche
assistenziali relative ai disturbi percettivo-motori della prima infanzia e alle malattie convulsivanti del bambino. Il prof.
Tortorella ha avuto modo di esprimere le sue capacità cliniche nell’ambito delle strutture ambulatoriali,
nell’organizzazione del day hospital, nel reparto degenze, nelle attività di consulenza alle altre cliniche pediatriche.
Particolare interesse il prof. Tortorella ha dedicato all’organizzazione ed al funzionamento del laboratorio di
neurofisiologia clinica: oltre alla notevole mole di registrazioni elettroencefalografiche ed all’impegno nella loro analisi e
refertazione in tale ambito il prof. Tortorella ha avuto modo di introdurre, tra i primi centri in Italia, tecniche innovative
di registrazione come quelle “dinamiche” su cassette magnetiche e, assai recentemente, su “microchip”. Esperienze di
applicazione di tali tecniche in età neonatale hanno costituito la base di originali apporti scientifici in sede internazionale.
Il prof. Tortorella è componente di varie società scientifiche nazionali (SINPIA, SINP, LICE, SINC) ed è componente del
Comitato di Redazione del “Giornale di Neuropsichiatria dell’Età Evolutiva”, organo ufficiale della Società Italiana di
Neuropsichiatria dell’Infanzia e dell’Adolescenza.
PRIMA LINGUA: italiano
Altre Lingue: inglese
Capacità di lettura: Eccellente
Capacità di scrittura: Buono
Capacità di espressione orale: Buono
Altre Lingue : francese
Capacità di lettura: Buono
Capacità di scrittura: Elementare
Capacità di espressione orale: Elementare
CAPACITÀ E COMPETENZE RELAZIONALI
Quotidiana attività assistenziale in un reparto di Neuropsichiatria Infantile, svolta ininterrottamente dal 1973 ad oggi.
Capacità e competenze relazionali indispensabili per garantire una corretta comunicazione dei dati clinici (particolare
importanza della comunicazione della diagnosi e della prognosi ai genitori di bambini con cerebropatie).
Capacità comunicative indispensabili per i rapporti con i colleghi e con il personale tecnico e parasanitario, la cui
collaborazione ed il cui spirito di squadra sono fondamentali per il raggiungimento degli obiettivi specifici.
CAPACITÀ E COMPETENZE ORGANIZZATIVE
Coordinamento del corso di laurea per Terapisti della NPEE.
Coordinamento, costante aggiornamento organizzativo, potenziamento tecnico strumentale del laboratorio di
Neurofisiologia della NPI del Policlinico Universitario di Messina.
Coordinamento, in qualità di delegato del Rettore dell’Università di Messina, degli interventi a favore degli studenti
universitari disabili (ex legge 17/1999), organizzazione ex novo dell’Ufficio Disabilità dell’Ateneo, organizzazione del
servizio di tutorato specializzato, organizzazione e coordinamento dell’esperienza di “peer-tutoring” con il
coinvolgimento degli studenti “part-time”, partecipazione al coordinamento nazionale dei Delegati Rettorali per la
Disabilità presso la CRUI.
CAPACITÀ E COMPETENZE TECNICHE
Conoscenza ed applicazione dei principali strumenti informatici ( word processing, data base, presentazioni, connessioni
internet, posta elettronica, pubblicazioni scientifiche in formato digitale, biblioteche on-line, video-conferenze). L’ attività
principale assistenziale e di ricerca (Neurofisiologia) è svolta solo grazie alle conoscenze di strumentazioni e programmi
applicativi di elevato livello tecnologico.
Esci CV

Curriculum Tortorella

Transcript

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