Curriculum Salpietro

Transcript

Formato Europeo per il Curriculum Vitae
Informazioni Personali
Nome
SALPIETRO DAMIANO Carmelo
Telefono
+39 (090) 221 3114
Fax
0902213788
E-mail
[email protected]
Nazionalità
italiana
Data di Nascita
08/02/1952
Esperienza Lavorativa
Date (da - a)
01/10/2006 Nome e indirizzo del datore di lavoro
Ministero Università,
Tipo di azienda o settore
Sanità
Tipo di impiego
Professore ordinario
Principali mansioni e responsabilità
Direttore UOC di Genetica ed Immunologia Pediatrica. Direttore Scuola di Specializzazione in
Genetica Medica
ISTRUZIONE E FORMAZIONE
Date (da - a)
- 01/10/1983
Nome e tipo di istituto di istruzione o formazione
Università di Messina, messina - Italia
Titolo di Studio
Spec.ne in Ematologia
Qualifica conseguita
Specialista in ematologia
Livello nella classificazione nazionale
50/50
Date (da - a)
- 07/07/1979
Università di Messina, Messina - Italia
Titolo di Studio
Spec.ne in Pediatria
Specialista in pediatria
50/50
Date (da - a)
- 26/11/1976
Università di Messina, Messina - Italia
Titolo di Studio
Bachelor
Dottore in medicina e chirurgia
108/110
Pubblicazioni
Titolo
Expanding CEP290 mutational spectrum in ciliopathies.
Autori
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M,
Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM;
International JSRD Study Group, Salpietro DC et al
Abstract
Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement,
that are caused by mutations in genes encoding for proteins of the primary cilium or its
apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly
mutated in Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS), SeniorLoken syndrome and isolated Leber congenital amaurosis (LCA). Although these conditions are
recessively inherited, in a subset of patients only one CEP290 mutation could be detected. To
assess whether genomic rearrangements involving the CEP290 gene could represent a possible
mutational mechanism in these cases, exon dosage analysis on genomic DNA was performed in
two groups of CEP290 heterozygous patients, including five JSRD/MKS cases and four LCA,
respectively. In one JSRD patient, we identified a large heterozygous deletion encompassing
CEP290 C-terminus that resulted in marked reduction of mRNA expression. No copy number
alterations were identified in the remaining probands. The present work expands the CEP290
genotypic spectrum to include multiexon deletions. Although this mechanism does not appear to
be frequent, screening for genomic rearrangements should be considered in patients in whom a
single CEP290 mutated allele was identified.
Anno pubblicazione e riferimenti
Am J Med Genet A. 2009 Oct;149A(10):2173-80.
Anno: 2009 - ISBN:
Titolo
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and
microtia.
Autori
Salpietro CD, Briuglia S, Cutrupi MC, Gallizzi R, Rigoli L, Dallapiccola B.
Abstract
Mastocytosis refers to a heterogeneous group of rare disorders characterized by an abnormal
accumulation of mast cells in one or more organ systems. Cutaneous mastocytosis (CM) is the
most frequent form in children and is characterized by hyperpigmented macules or papules
symmetrically distributed over the trunk, and less so over the limbs, neck, and scalp. Two
published articles have reported on unrelated girls presenting with mastocytosis, microcephaly,
hearing loss, and hypotonia. Based on the original observation, this disorder was defined as CM
with short stature, conductive hearing loss, and microtia (OMIM 248910). Here we report on a girl
with similar manifestations who corroborates the existence of this rare disorder. CM,
microcephaly, microtia, and/or hearing loss are the minimal diagnostic criteria. All the known
patients were sporadic, but parental consanguinity in the first case argues for a possible
autosomal-recessive inheritance.
Am J Med Genet A. 2009 Oct;149A(10):2270-3.
Anno: 2009 - ISBN:
Titolo
On the use of conventional and tissue Doppler echocardiography in patients with betaThalassemia major and myocardial iron-overload: Preliminary data by a single centre study.
Autori
de Gregorio C, Piraino B, Morabito G, Salpietro CD, Coglitore S.
Abstract
beta-Thalassemia Major (betaTM) is a hereditary chronic haemolytic anaemia that requires
multiple blood transfusions all along lifetime. Late complication of this treatment is tissue iron
overload (IO), mostly located on the reticulo-endothelial system, joints, liver, endocrine glands and
the heart. In some patients, IO is responsible for heart failure. Echocardiography allows
recognizing preclinical left ventricular dysfunction, which can be related to myocardial IO. Over
the last few years, cardiac magnetic resonance imaging has become the gold standard for making
diagnosis of myocardial IO, by a specific index of myocardial relaxation time, called T2 star (T2).
We enrolled 14 betaTM patients, mean aged 37.7+/-10.4 years, with no signs of heart failure, on
treatment with iron chelating agents, in whom we sought to investigate whether conventional
and/or tissue Doppler velocity echocardiography could discriminate low T2 value patients.
Important findings from this preliminary study likely indicate a low prevalence of myocardial IO
(approximately 14%) in regularly treated betaTM patients. Tissue Doppler velocity imaging was not
able to discriminate these latter patients. On the contrary, isovolumetric relaxation time <60 ms,
mitrale E/A velocity ratio >2, and both atrial chambers dilatation were associated with T2 value
<20 ms.
Int J Cardiol. 2009 Jun 27. [Epub ahead of print]
Anno: 2009 - ISBN:
Titolo
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related
disorder with liver involvement.
Autori
Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F,
Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro
CD, Signorini S, Stringini GR, Verloes A, Zabloka D,
Abstract
The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia,
Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth
sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related
Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from
malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome
(MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L
genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7%
MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14
COACH families identified mutations in 8 (57%). Features such as colobomas and
nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a
distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and
further strengthen gene-phenotype correlates in JSRDs. (c) 2008 Wiley-Liss, Inc.
Hum Mutat. 2009 Feb;30(2):E432-42.
Anno: 2009 - ISBN:
Titolo
The quality of life of children and adolescents with X-linked agammaglobulinemia.
Autori
Soresina A, Nacinovich R, Bomba M, Cassani M, Molinaro A, Sciotto A, Martino S, Cardinale F, De
Mattia D, Putti C, Dellepiane RM, Felici L, Parrinello G, NeriF, Salpietro C, Plebani A; Italian
Network for Primary Immunodeficiencies.
Abstract
INTRODUCTION: The health-related quality of life in X-linked agammaglobulinemia was
investigated in 25 children and adolescents patients through the Italian version of Pediatric
Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing
child perception to that of the parents and the physician's evaluation. The data were compared
with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic
diseases. DISCUSSION: The agammaglobulinemia subjects perceived a lower global quality of life
than the healthy subjects, but significantly higher than the rheumatic diseases controls. The
clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia
pediatric patients is discussed.
J Clin Immunol.2009 Jul;29(4):501-7.
Anno: 2009 - ISBN:
Titolo
Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide
polymorphisms in inflammatory bowel disease.
Autori
Rigoli L, Romano C, Caruso RA, Lo Presti MA, Di Bella C, Procopio V, Lo Giudice G, Amorini M,
Costantino G, Sergi MD, Cuppari C, Calabro GE, Gallizzi R, Salpietro CD, Fries W.
Abstract
AIM: To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and
ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of
NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G
and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy.
METHODS: Allele and genotype frequencies of NOD2/CARD15 (R702W, G908R and L1007finsC)
and TLR4 (D299G and T399I) SNPs were examined in 133 CD patients, in 45 UC patients, and in
103 healthy controls. A genotype-phenotype correlation was performed. RESULTS:
NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls
(2.4%, P = 0.001) and in UC (2.3%, P = 0.03). No significant difference was found between UC
patients and control group (P > 0.05). In CD and UC patients, no significant association with
G908R variant was found. L1007finsC SNP showed an association with CD (9.8%) compared with
controls (2.9%, P = 0.002) and UC patients (2.3%, P = 0.01). Moreover, in CD patients, G908R and
L1007finsC mutations were significantly associated with different phenotypes compared to CD
wild-type patients. No association of IBD with the TLR4 SNPs was found in either cohort (allele
frequencies: D299G-controls 3.9%, CD 3.7%, UC 3.4%, P > 0.05; T399I-controls 2.9%, CD 3.0%,
UC 3.4%, P > 0.05). CONCLUSION: These findings confirm that, in our IBD patients selected from
Southern Italy, the NOD2/CARD15, but not TLR4 SNPs, are associated with increased risk of CD.
World J Gastroenterol. 2008 Jul 28;14(28):4454-61.
Anno: 2008 - ISBN:
Titolo
Investigation of the eotaxin gene -426C-->T, -384A-->G and 67G-->a single-nucleotide
polymorphisms and atopic dermatitis in Italian children using family-based association methods.
Autori
Rigoli L, Caminiti L, Di Bella C, Procopio V, Cuppari C, Vita D, Barberio G, Salpietro C, Pajno GB.
Abstract
BACKGROUND: Eotaxin plays an important role in atopic dermatitis (AD) as a potent
chemoattractant and activator of eosinophils and T-helper 2 lymphocytes. AIM: To investigate
whether single-nucleotide polymorphisms of the eotaxin gene are associated with AD, we
investigated the genotype and allelic frequencies of -426C-->T, -384A-->G, and 67G-->A SNPs in
130 Italian families. METHODS: In total, 130 children with either the extrinsic allergic or intrinsic
nonallergic forms of AD (EAD and IAD) were recruited from 130 families. Genotyping was
performed using PCR and restriction fragment length polymorphism analysis. RESULTS: A
significant difference was observed in the genotype frequency of the -426C-->T SNP between
children with EAD and those with IAD (P = 0.01), and between children with EAD and controls (P
= 0.01). The allele frequencies of the -426C-->T SNP were significantly different between children
with EAD and those with IAD (P < 0.01), and between children with EAD and controls (P < 0.01).
For children with EAD, the genotype frequency of the -426C-->T SNP was no different between the
groups with mild, moderate and severe SCORAD (P = NS). No significant association was observed
between the -384A-->G and 67G-->A SNPs and the two groups of children with EAD and IAD
compared with the control group. In 32 trios selected from 68 EAD families, the transmission
disequilibrium test showed a preferential transmission of the -426T allele from the parents to
affected offspring (P < 0.01). CONCLUSIONS: Our results suggest that in our group of children
with AD, the eotaxin gene may play a crucial role in the development of extrinsic AD, probably
with other genetic factors.
Clin Exp Dermatol. 2008 May;33(3):316-21. Epub 2008 Feb 28.
Anno: 2008 - ISBN:
Titolo
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert
syndrome-related disorders.
Autori
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano
G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG,
Valente EM.
Abstract
Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions
sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign' (MTS).
Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs
and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven
MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations,
the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were
detected in 2 of 16 families with cerebello-renal presentation ( approximately 12%). Conversely, no
pathogenic changes were found in patients with other JSRD phenotypes, suggesting that
RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall
represent a rare cause of JSRD (<2%).
Clin Genet. 2008 Aug;74(2):164-70. Epub 2008 Jun 28.
Anno: 2008 - ISBN:
Titolo
Rituximab for the treatment of post-bone marrow transplantation refractory hemolytic anemia in
a child with Omenn's syndrome.
Autori
Silvana B, Antonella LM, Basilia P, Trombetta D, Saija A, Salpietro C.
Abstract
Omenn's syndrome is a rare severe combined immunodeficiency that kills affected subjects before
the end of the first year of life unless patients are treated with bone marrow transplantation
(BMT). Unfortunately, post-BMT patients may develop autoimmune diseases, such as
autoimmune hemolytic anemia (AIHA), which sometimes fails to respond to standard therapies.
Rituximab is a chimeric, human, immunoglobulin G1/k monoclonal antibody specific for the
CD20 antigen expressed on the surface of B lymphocytes. Rituximab is currently only labeled for
treatment of B-cell lymphoproliferative disorders, such as B-cell non-Hodgkin's lymphoma and
follicular lymphoma; however, it is also employed in the treatment of a variety of disorders
mediated by auto-antibodies, such as AIHA and transplant-related autoimmune disorders.
Herein, we describe the case of a 23-month-old male child with Omenn's syndrome, who had
undergone BMT and was successfully treated with rituximab (375 mg/m(2) intravenously, weekly
for three times) for refractory post-BMT hemolytic anemia. Our findings evidence that rituximab
should be considered for treatment of post-BMT AIHA refractory to traditional therapy also in
children with primary immunodeficiencies; furthermore, rituximab might represent a means to
obtain remissions without the toxic effects associated with corticosteroid and immunosuppressive
agents.
Pediatr Transplant. 2007 Aug;11(5):552-6.
Anno: 2007 - ISBN:
Titolo
Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children.
Autori
Rigoli L, Di Bella C, Procopio V, Finocchiaro G, Amorini M, Lo Giudice G, Cuppari C, Salpietro CD.
Abstract
The secretory protein, uteroglobin-related protein 1 (UGRP1), is expressed mainly in the lung and
trachea and recently has been implicated in asthma. The -112G to A transition in the promoter
was reported to be associated with asthma in the Japanese population. However, this has not
been replicated in other studies. The aim of this study was to find the association of the UGRP1
gene polymorphism with atopic asthma in the Sicilian population. We conducted a transmission
disequilibrium test (TDT) in 73 trios identified through 113 pediatric patients being treated for
asthma. A case-control study also was performed by comparing the 113 unrelated asthmatic
children and 230 unrelated healthy Italian subjects (121 children and 109 adults). The -112 G/A
polymorphism was genotyped by the polymerase chain reaction-restriction fragment length
polymorphism method and direct sequencing. The TDT revealed that the -112A allele was not
preferentially transmitted from the parents to asthmatic offspring (chi-square = 3.08; p = NS).
Neither the presence of at least one A allele in an individual's genotype (sum of the G/A and A/A
genotype) nor the -112A allele was more prevalent among the asthma subjects than among the
control subjects. Our results suggest that the -112G/A polymorphism does not play a significant
role in the genetic predisposition of the UGRP1 gene in atopic asthma in the Sicilian population.
Allergy Asthma Proc. 2007 Nov-Dec;28(6):667-70.
Anno: 2007 - ISBN:
Titolo
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related
disorders.
Autori
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D,
Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam
RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Sa
Abstract
Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically
heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign
(MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations.
Mutations in the CEP290 gene were recently identified in families with the MTS-related
neurological features, many of which showed oculo-renal involvement typical of Senior-Loken
syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis
on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified
mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients
representing the spectrum of other JSRD subtypes, with mutations identified in only two patients.
The data suggest that CEP290 mutations are frequently encountered and are largely specific to
the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming
the clinical and genetic overlap between JSRDs and other ciliopathies.
Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18.
Anno: 2007 - ISBN:
Titolo
Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal
hematological indices and normal Hb A2.
Autori
Di Bella C, Salpietro C, La Rosa M, Cuppari C, Piraino B, Cutri MR, Rigoli L.
Abstract
We analyzed the prevalence of alpha-thalassemia mutations in 298 subjects from Eastern Sicily
(Italy) with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH),
normal HbA2 and HbF, and normal serum iron. In 131 subjects (43.9%) we found six different
genotypes of alpha-thalassemia: -alpha3.7/alphaalpha (36.6%), -alpha3.7/-alpha3.7 (27.5%), (MED)/alphaalpha (10.0%), -alpha20.5/alphaalpha (9.1%), alphaHphIalpha/alphaalpha (8.4%),
alphaHphIalpha/alphaHphIalpha (6.1%), and -alpha3.7/alphaHphIalpha (2.3%). Our data
underline that in Eastern Sicily populations, the molecular screening of alpha-thalassemia
mutations and/or deletions may be useful to better characterize the clinically asymptomatic
subjects with a slightly reduced MCV and MCH and normal iron status.
Ann Hematol. 2006 Dec;85(12):829-31. Epub 2006 Sep 2.
Anno: 2006 - ISBN:
Titolo
14.Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based
comparative genomic hybridization.
Autori
Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L,
Dallapiccola B, Hoyme HE.
Abstract
In 2000, Teebi reported on a 4-year-old boy with a distinctive pattern of malformation, which he
termed the "Nablus mask-like facial syndrome" (OMIM# 608156). Characterization of this
syndrome has been difficult because of the paucity of patients described in the medical literature
and its unknown etiology and pathogenesis. We present two patients with Nablus mask-like facial
syndrome who both display a microdeletion in the 8q21-8q22 region detected by array-based
comparative genomic hybridization. Patient 1, a boy, has a distinct facial appearance
characterized by severe blepharophimosis, tight-appearing glistening facial skin, sparse and
unruly hair, a flat and broad nose, and distinctive ears that are triangular in shape with
prominent antihelices. He also demonstrates camptodactyly, contractures, unusual dentition,
cryptorchidism, mild developmental delay, and a happy demeanor. Patient 2, a girl with a
strikingly similar phenotype, was previously described in a report by Salpietro et al. 2003. She
has distinctive ears, dental anomalies, and developmental delay. The etiology of her pattern of
malformation was not identified at that time. Although high-resolution chromosome and
subtelomeric FISH analyses were normal, array-based comparative genomic hybridization
revealed an approximately 4 Mb deletion involving the 8q21.3-8q22.1 region in both patients. This
region encompasses a number of genes that may contribute to this unique phenotype. These
results demonstrate a chromosomal microdeletion as the etiology of Nablus mask-like facial
syndrome and emphasize the diagnostic utility of array-based comparative genomic hybridization
in the evaluation of multiple malformation syndromes of previously unrecognized causation.
Copyright 2006 Wiley-Liss, Inc.
Am J Med Genet A. 2006 Jun 15;140(12):1267-73.
Anno: 2006 - ISBN:
Titolo
Increased protein carbonyl groups in the serum of patients affected by thalassemia major.
Autori
Trombetta D, Gangemi S, Saija A, Minciullo PL, Cimino F, Cristani M, Briuglia S, Piraino B, Isola
S, Salpietro CD.
Abstract
High oxidative stress status is known to be one of the most important factors determining cell
injury in thalassemic patients and causing other serious medical complications, including a
continuous proinflammatory status. The quantification of protein carbonyl groups in peripheral
blood is widely used to measure the extent of oxidative modification. Thus, we measured serum
concentrations of protein carbonyl groups in 30 patients affected by thalassemia major and in 15
healthy subjects. Strongly higher levels of protein carbonyl groups were measured in the blood
from thalassemic patients than in that from healthy controls. Our findings evidence that
thalassemic patients suffer from protein oxidative stress; the possibility of a role for carbonyl
stress in the progression and severity of the disease needs further investigation.
Ann Hematol. 2006 Aug;85(8):520-2. Epub 2006 May 6.
Anno: 2006 - ISBN:
Titolo
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Autori
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E,
Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB,
Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I,
Abstract
OBJECTIVE: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with
several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar
vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of
Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of
mutations in the first positionally cloned gene, AHI1, is unknown. METHODS: We searched for
mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically
proven molar tooth sign. RESULTS: We identified 15 deleterious mutations in 10 families with
pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations
among families with JSRD including kidney or liver involvement were not detected.
Transheterozygous mutations were identified in the majority of those without history of
consanguinity. Most mutations were truncating or splicing errors, with only one missense
mutation in the highly conserved WD40 repeat domain that led to disease of similar severity.
INTERPRETATION: AHI1 mutations are a frequent cause of disease in patients with specific forms
of JSRD.
Ann Neurol. 2006 Mar;59(3):527-34.
Anno: 2006 - ISBN:
Titolo
Looking for immunotolerance: a case of allergy to baker's yeast (Saccharomyces cerevisiae).
Autori
Pajno GB, Passalacqua G, Salpietro C, Vita D, Caminiti L, Barberio G.
Abstract
We describe one case of baker's yeast true allergy in a boy with previously diagnosed mite-allergy
and atopic dermatitis. At the age of 6, being atopic dermatitis and rhinitis well controlled by
drugs, he began to experience generalized urticaria and asthma after eating pizza and bread, but
only fresh from the oven. The diagnostic workup revealed single sensitization to baker's yeast
(Saccharomyces cerevisiae), and a severe systemic reaction also occurred during the prick-byprick procedure. After discussing with parents, no special dietary restriction was suggested but
the use of autoinjectable adrenaline and on demand salbutamol. A diary of symptoms was
recorded by means of a visual-analog scale. During the subsequent 2 years, the severity of
symptoms was progressively reduced, and presently urticaria has disappeared. Only cough
persists, invariantly after eating just-baked and yeast-containing foods. If bread, pizza and cakes
are ate more than one hour after preparation, no symptom occur at all. Baker's yeast is a
common component of everyday diet and it usually acts as an allergen only by the inhalatory
route. We speculate that the continuous exposure to saccharomyces in foods may have lead to an
immunotolerance with a progressive reduction of symptoms, whereas why the allergens is active
only in ready-baked foods remains unexplained.
Eur Ann Allergy Clin Immunol. 2005 Sep;37(7):271-2.
Anno: 2005 - ISBN:
Titolo
Report of a third family with Oliver syndrome.
Autori
Salpietro CD, Briuglia S, Bertuccio G, Rigoli L, Mingarelli R, Dallapiccola B.
Abstract
Am J Med Genet A. 2005 Dec 1;139A(2):159-61.
Anno: 2005 - ISBN:
Titolo
The almond milk: a new approach to the management of cow-milk allergy/intolerance in infants.
Autori
Salpietro CD, Gangemi S, Briuglia S, Meo A, Merlino MV, Muscolino G, Bisignano G, Trombetta D,
Saija A.
Abstract
AIM: Elimination of the offending food is imperative in the management of children with cow-milk
allergy/intolerance (CMA/CMI). Herein we report the result of randomized clinical trial carried out
to test the efficacy and safety of a new almond-based food (hereinafter named almond milk) in a
group of infant with CMI/CMA. METHODS: A group of 52 infants aged 5 to 9 months and with
documented CMI/CMA was enrolled and randomized to: almond milk (Group A, n=26); soy-based
formula (Group B, n=13); protein hydrolysate-based formula (n=13). The main efficacy outcomes
were the improvement in clinical symptoms and the decrease in serum levels of soluble CD30 (a
potential marker for atopic disorders; sCD30). RESULTS: Elimination of the offending food and
supplementation with a milk protein-free formula produced a considerable improvement of
clinical manifestations within 5-12 days in all cases examined (at the onset of the study: 26.4+/5.4 U/mL and 7.9+/-5.2 U/mL in IgE+ and IgE- infants respectively, after 6 months of
supplementation: 16.6+/-4.8 U/mL and 7.1+/-4.5 U/mL in IgE+ and IgE- infants respectively).
No difference in growth rate (increment of weight, length and head circumference) was found,
during the entire study, between infants given the almond milk and babies given the soy-based
formula or the protein hydrolysate-based formula. Supplementation with the soy-based and
protein hydrolysate-based formulas caused the development, in some subjects, of a secondary
sensitization (23% to soy-based and 15% protein hydrolysate-based formula), whereas
supplementation with the almond milk did not. CONCLUSIONS: Though preliminary, the present
findings seem to demonstrate that the almond milk may an efficacious substitute of cow milk in
infants with CMA/CMI. One could speculate that some active principles contained in the almond
milk could contribute to its beneficial effect observed in CMI/CMA-affected infants.
Minerva Pediatr. 2005 Aug;57(4):173-80.
Anno: 2005 - ISBN:
Titolo
Distribution of the mutated delta 32 allele of the CCR5 gene in a Sicilian population.
Autori
Sidoti A, D'Angelo R, Rinaldi C, De Luca G, Pino F, Salpietro C, Giunta DE, Saltalamacchia F,
Amato A.
Abstract
The CCR5 gene encodes a cell-surface chemokine receptor molecule that serves as a co-receptor
for macrophage-tropic strains of human immunodeficiency virus type 1 (HIV-1). A mutation in
this gene may alter the expression or the function of the protein product, thereby altering
chemokine binding and/or signalling or HIV-1 infection of cells that normally express CCR5
protein. Individuals homozygous for a 32-bp deletion allele of CCR5 (CCR5 delta32), heritable as a
Mendelian trait, are relatively resistant to HIV-1 infection. The CCR5 delta32 mutation is present
in the Caucasian population at different frequencies. The aim of this study was to investigate the
frequency of truncated alleles of the CCR5 delta32 gene in a Sicilian population, as the
interpopulation variation in CCR5 delta32 frequency may be a significant factor in the prediction
of AIDS endemicity in future studies. We examined 901 healthy individuals from several Sicilian
provinces. We found a mean (+/- standard deviation) delta32 allele frequency (fr) of 0.04 +/0.012. The highest value was observed in the province of Messina, with a mean delta32 allele
frequency of 0.06 +/- 0.024, where we collected samples from a cohort of 114 HIV-1-infected
individuals. The observed frequency amongst these patients was quite low (fr = 0.03 +/- 0.031)
compared to the healthy population, although the difference was not statistically significant.
Int J Immunogenet. 2005 Jun;32(3):193-8
Anno: 2005 - ISBN:
Titolo
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Autori
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C,
Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig
M, Dallapiccola B, Gleeson JG.
Abstract
Jouberts syndrome-related disorders are a group of recessively inherited conditions showing
cerebellar vermis hypoplasia and the molar tooth sign of the midbrain-hindbrain junction. Recent
analyses have suggested at least three loci, JBTS1 (9q34.3), -2 (11p11.2-q12.3), and -3 (6q23),
but the phenotypic spectrum associated with each locus has not been delineated. In addition,
deletions of the NPHP1 gene, usually responsible for isolated juvenile nephronophthisis, are
occasionally encountered among Jouberts syndrome-related disorder patients. Here, we describe
four novel families showing evidence of linkage to two of these loci, provide a 3.6Mb refinement of
the JBTS2 locus, and perform a detailed comparison of all linked families identified so far, to
define the clinical and radiographical hallmarks for each genetic condition. We find that JBTS1
and -3 primarily show features restricted to the central nervous system, with JBTS1 showing
largely pure cerebellar and midbrain-hindbrain junction involvement, and JBTS3 displaying
cerebellar, midbrain-hindbrain junction, and cerebral cortical features, most notably
polymicrogyria. Conversely, JBTS2 is associated with multiorgan involvement of kidney, retina,
and liver, in addition to the central nervous system features, and results in extreme phenotypic
variability. This provides a useful framework for genetic testing strategies and prediction of which
patients are most likely to experience development of systemic complications.
Ann Neurol. 2005 Apr;57(4):513-9.
Anno: 2005 - ISBN:
Titolo
Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in
Italian children with congenital uropathies.
Autori
Rigoli L, Chimenz R, di Bella C, Cavallaro E, Caruso R, Briuglia S, Fede C, Salpietro CD.
Abstract
Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene
polymorphisms have been associated with an increased incidence of congenital anomalies of the
kidney and urinary tract (CAKUT). We investigated the genotype distribution of these
polymorphisms in Italian children with CAKUT. We also evaluated the association between the
ACE insertion/deletion and the AT2R gene polymorphisms with the progression of renal damage
in subgroups of CAKUT patients. We recruited 102 Italian children with CAKUT; 27 with
vesicoureteral reflux; 12 with hypoplastic kidneys; 20 with multicystic dysplastic kidneys; 13 with
ureteropelvic junctions stenosis/atresia; 18 with nonobstructed, nonrefluxing primary
megaureters; and 12 with posterior urethral valves and compared them with 92 healthy control
subjects. ACE and AT2R gene polymorphisms were analyzed by PCR. The identification of AT2R
gene polymorphisms in intron 1 and in exon 3 was revealed by enzymatic digestion. ACE genotype
distribution in children with CAKUT was no different from that of the control subjects, but the
subgroup of patients with radiographic renal parenchymal abnormalities showed an increased
occurrence of the D/D genotype. The frequency of the G allele of AT2R gene in children with
CAKUT was increased in respect to that of the control subjects. By contrast, no significant
difference in the frequency of the C and A alleles of the AT2R gene was found. Our findings
indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in
CAKUT patients. Moreover, a major role of the AT2R gene in the development of CAKUT has been
found, at least in Italian children.
Pediatr Res. 2004 Dec;56(6):988-93. Epub 2004 Oct 6.
Anno: 2004 - ISBN:
Titolo
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
Autori
Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B.
Abstract
Oculodentodigital dysplasia (ODDD) and Hallermann-Streiff syndrome (HSS) share several clinical
characteristics. However, while ODDD is a dominantly inherited disorder due to mutations in the
connexin 43 gene GJA1, the inheritance pattern of the HSS syndrome is still debated. Overlapping
phenotypes have been described. In one of such cases we found a homozygous change at the very
conserved R76 codon (c.227G>A, p.R76H), the clinically normal parents being heterozigous
carriers of the same mutation. A different base change at the same codon (p.R76S) leads to a
complete dominant ODDD phenotype. A case of full-blown HSS phenotype was also analysed but
GJA1 mutations were not found. GJA1 homozygous hypomorphic mutations can result in a
phenotype in the HSS/ODDD spectrum.
Hum Mutat. 2004 Mar;23(3):286.
Anno: 2004 - ISBN:
Titolo
Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene and IL-4 gene
promoter in Italian atopic families.
Autori
Rigoli L, Di Bella C, Procopio V, Barberio G, Barberi I, Caminiti L, La Grutta S, Briuglia S,
Salpietro CD, Pajno GB.
Abstract
BACKGROUND: The genetic variants in the Fcepsilon receptor I beta gene (Glu237Gly) and the T
allele of the (C590T) polymorphism of interleukin (IL)-4 gene promoter were reported to be
associated with atopy. But the data of the studies in different populations are contrasting with
one another. METHODS: A group of 25 Italian nuclear families were studied. In each family at
least two allergic subjects were present. The allergic children were 65 and the allergic relatives
were 35. One hundred and three nonallergic unrelated controls included outpatiens with no
history of atopy. The (C590T) promoter polymorphism of the IL-4 and the genetic variant
Glu237Gly of Fcepsilon RI beta genes were analysed by the polymerase chain reaction-restriction
fragment length polymorphism method. RESULTS: A significant difference was observed in the
genotype frequency at codon 237 of the Fcepsilon RI beta gene between allergic children and
nonatopic control (P < 0.01) and in the allergic relatives (P < 0.001). In the children, the
Glu237Gly polymorphism was also associated with elevated circulating levels of immunoglobulin
E. The -590C/T allele of IL-4 promoter gene showed no association with atopy. CONCLUSIONS: In
our study, the Glu237Gly polymorphism of the Fcepsilon RI beta gene was associated with atopy.
Our results have not pointed out an association between the (C590T) promoter polymorphism of
the IL-4 gene and atopy. These data suggest the potential role of the Fc RI beta gene in the
development of the allergy.
Allergy. 2004 Feb;59(2):213-8.
Anno: 2004 - ISBN:
CAPACITÀ E COMPETENZE PERSONALI
Organizzazione UOC di Genetica ed Immunologia Pediatrica in area medica e area laboratoristica;
Organizzazione annuale dei Percorsi Pediatrici Messinesi (IV anno);
Organizzazione annuale Congresso Italiano di Genetica, Immunologia e Terapie innovative in
Pediatria (10° anno)
Fondatore e direttore scientifico della RIGIP (Rivista Italiana di Genetica ed Immunologia
Pediatrica)
PRIMA LINGUA
italiano
Altre Lingue
inglese
Capacità di lettura
Buono
Capacità di scrittura
Elementare
Capacità di espressione orale
Elementare
francese
Capacità di lettura
Buono
Capacità di scrittura
Elementare
Capacità di espressione orale
Elementare
CAPACITÀ E COMPETENZE RELAZIONALI
Organizzazione di numero 7 sezioni cliniche e 5 laboratoristiche, oltre a numerosi gruppi di
ricerca che operano nell'ambito della UOC di Genetica ed immunolgia Pediatrica, in armonia e con
eccellenti risultati sul piano assistenziale, formativo e della ricerca.
CAPACITÀ E COMPETENZE ORGANIZZATIVE
 Socio Fondatore e Presidente Nazionale nel triennio 1977-80 dell’A.M.I.S. (Associazione
Nazionale Specializzandi)
 Componente la Segreteria Organizzativa di Congressi Regionali, Interregionali e Nazionali
 Componente del Consiglio Direttivo della S.I.P Sezione Siciliana nel biennio 1984-1986
 Componente, su invito, del Comitato di Esperti della Consensus Conference su “Interpretazione
dei dati di laboratorio sull’allergia respiratoria infantile” (Salò, 1989)
 Componente, su invito, del Comitato di Esperti della Consensus Conference su “Le Vaccinazioni
in Pediatria” (Garda, 1995)
 Componente del Direttivo Nazionale del Gruppo di Studio di Immunologia ed Allergologia
Pediatrica nel triennio 1994-97
 Dal 1997 ad oggi Presidente Nazionale dell’Associazione Interuniversitaria PHAROS
 Socio Fondatore della Società Italiana di Allergologia ed Immunologia Pediatrica
 Componente del Direttivo dell’Ordine dei Medici di Messina nel triennio 1997-99.
 Componente del Direttivo dell’Ordine dei Medici di Messina per il triennio 2000-2003 in qualità
di Vicepresidente. Riconfermato Vicepresidente per il triennio 2003-2006.
 Nel 1998 è stato chiamato a far parte, con voto unanime della Facoltà, della Commissione per la
selezione del Direttore Generale dell’Azienda Policlinico di Messina
 Per il triennio 1999-2001 consulente del Preside della Facoltà di Medicina e Chirurgia di
Messina per l’area Materno-Infantile
 Dal 1999 al 2004 consulente del Direttore Sanitario della Azienda Policlinico di Messina per
l’area Materno-Infantile.
 Dal 2001 al 2006 Presidente dell’APIG (Associazione Pediatrica di Immunologia e Genetica)
 Per il triennio 2002-2004 è componente del Consiglio di Presidenza della Facoltà di Medicina e
Chirurgia in seguito a designazione unanime del Consiglio di Dipartimento.
 Dal 1999 al 2008 ha organizzato a Messina il Meeting Nazionale di Genetica, Immunologia e
Terapie Innovative in Pediatria.
 Dal 2002 al 2007 ha organizzato il Convegno Nazionale su “Le Malattie Genetiche Rare”.
 Nel 2005 ha attivato il progetto REGEM (Rete Genetica Messina) che ha determinato la ufficiale
costituzione di un consorzio tra l’U.O. di Genetica ed Immunologia Pediatrica dell’Azienda
Ospedaliera Universitaria di Messina, l’IRCCS di San Giovanni Rotondo e l’Istituto Mendel di
Roma. Il progetto prevede l’attribuzione di un budget annuale specifico dell’AOU di Messina e si
propone l’abbattimento della migrazione sanitaria pediatrica per malattie genetiche ed un
aumento della attrazione di pazienti da tutta la Sicilia e da altre Regioni. Sono coinvolte nel
progetto, con specifiche linee di ricerca e protocolli assistenziali, più Unità Operative del
Dipartimento di Pediatria e dell’Azienda Ospedaliera Universitaria Policlinico di Messina.
 Moderatore al 56°, 57°, 58°, 59°, 60° Congresso Nazionale di Pediatria.
 Membro cooptato della Morgagni Medical Society of Washington, D.C.
CAPACITÀ E COMPETENZE TECNICHE
Capacità di utilizzare il computer, con programmi Microsoft
ALTRE CAPACITÀ E COMPETENZE
 Corrispondente della Gazzetta del Sud di Messina dal 1972 al 1992.
ATTIVITA’ DIDATTICA TRIENNIO 2006-2009
 Docente di Genetica Medica nel Corso di Laurea per Infermieri
 Docente di Genetica Medica nel Corso di Laurea per Dietisti
 Docente di Genetica Medica nel Corso di Laurea per Ortottisti
 Docente di Genetica Medica nel Corso di Laurea in Medicina e Chirurgia
 Docente di Pediatria nel Corso di Laurea di Medicina e Chirurgia
 Docente di Immunoematologia nel Corso di Laurea in Infermieristica Pediatrica
 Docente di Genetica Medica presso la Scuola di Specializzazione in Psichiatria
 Docente di Genetica Medica presso la scuola di specializzazione in Psicologia Clinica
 Docente di Genetica Medica presso la Scuola di Specializzazione in Igiene
 Docente di Pediatria ed Immunologia presso la Scuola di Specializzazione in Pediatria
 Docente di Immunogenetica presso la Scuola di Specializzazione in Chirurgia Pediatrica
 Docente di Genetica Medica presso la Scuola di Specializzazione in Ostetricia e Ginecologia
 Docente della Scuola Superiore di Specializzazione in Bioetica e Sessuologia dell’Istituto
Teologico San Tommaso aggregato alla Facoltà di Teologia della Università Pontificia Salesiana di
Roma
 Direttore della Scuola di Specializzazione in Genetica Medica
Commissario in concorsi:
 Nel 2008 e nel 2009 commissario per la conferma in ruolo di Professori associati
 Nel 2007 e nel 2009 Presidente della commissione nei concorsi di selezione per dirigenti medici
specialisti in Pediatria
 Nel 2007 e nel 2009 Presidente della commissione nei concorsi di selezione per dirigenti medici
specialisti in Genetica Medica
 Nel 2007 e nel 2009 Presidente della commissione nei concorsi di selezione per dirigenti biologi
 Nel 2006, 2007, 2008, 2009 Presidente commissione per il concorso di ammissione alla Scuola
di Specializzazione in Genetica Medica
 Nel 2006, 2007, 2009 componente commissione per il concorso di ammissione alla Scuola di
Specializzazione in Pediatria
 Nel 2006, 2007, 2008, 2009 componente commissioni per l’attribuzione a medici e biologi di
borse di studio di ricerca finalizzata
ATTIVITA’ SCIENTIFICA TRIENNIO 2006-2009
L’attività scientifica è documentata da 18 lavori in extenso su riviste internazionali censite da
PubMed, 15 su riviste nazionali, da 10 comunicazioni a congressi internazionali, da 53
comunicazioni a congressi nazionali, 3 capitoli in Trattati, oltre che da 65 lavori internazionali dei
collaboratori.
Collaborazioni scientifiche:
 Department of Pediatrics, Division of Medical Genetics, University School of Medicine, Stanford,
California, USA per un progetto di studio già pubblicato sulla sindrome di Nablus
 International Joubert Sindrome Relate Disorders Study Group
 Italian Network for Primary Immunodeficiencies.
 Cleveland Clinic, Cleveland USA per uno studio sul dismicrobismo intestinale nelle IBD
 Istituto Mendel di Roma ed IRCCSS di San Giovanni Rotondo nell’ambito del Progetto REGEM
(Rete Genetica Messina, attivo dal 2006) con un finanziamento specifico dell’AOU Policlinico di
Messina di 100.000 euro l’anno
 Cattedra di Genetica Medica dell’Università Torvergata di Roma nell’ambito di uno studio in fase
avanzata sulla genetica della dermatite atopica
 Cattedra di Pediatria UOC di Gastroenterologia Pediatrica Università La Sapienza di Roma
nell’ambito di uno studio in fase avanzata sui meccanismi immunologici mucosali in pazienti con
MICI
 Cattedra di Pediatria e Reumatologia Gaslini di Genova per uno studio già ultimato sui
meccanismi genetici della sindrome da Iper IgD
Progetti di ricerca finanziati nel triennio 2006-2009
 Tipizzazione molecolare di nuclei familiari con retinite pigmentosa (Finanziamento PRA)
 Valutazione dinamica dello stress ossidativo in soggetti con sindrome di Down
(Finanziamento PRA).
 Dosaggio della ghrelina nei talassemici politrasfusi (Finanziamento Regione Siciliana che
contempla anche 1 borsa di studio di un anno per 1 medico)
 Valutazione dell’omeostasi del ferro mediante determinazione dei livelli serici e screening
mutazionale del gene dell’epcidina nelle anemie ereditarie ed acquisite (Finanziamento PRA)
 Screening molecolare di mutazioni e/o delezioni del gene A-globinico in soggetti portatori del
trait Beta-talassemico: indagine epidemiologica nella Sicilia orientale (Finanziamento Regione
Siciliana che contempla anche 1 borsa di studio di un anno per 1 biologo)
 Livelli serici di gruppi carbonilici proteici in pazienti con beta talassemia major (Finanziamento
Regione Siciliana che contempla anche 1 borsa di studio di un anno per 1 biologo)
 Malformazioni congenite del cervelletto: epidemiologia, basi genetiche, correlati clinici, diagnosi
e gestione dei pazienti. (Finanziamento della Fondazione Mariani che prevede anche 3 borse di
studio biennali).
HA presentato relazioni , comunicazioni o poster a Congressi nazionali ed internazionali
PATENTE O PATENTI
Patente B
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