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Curriculum Vitae - SALPIETRO DAMIANO Carmelo
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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
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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
50/50
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Livello nella classificazione
nazionale
Date (da - a)
- 07/07/1979
Nome e tipo di istituto di
istruzione o formazione
UNIVERSITÀ DI MESSINA, MESSINA - ITALIA
Titolo di Studio
SPEC.NE IN PEDIATRIA
Qualifica conseguita
SPECIALISTA IN PEDIATRIA
Livello nella classificazione
nazionale
50/50
Date (da - a)
- 26/11/1976
Nome e tipo di istituto di
istruzione o formazione
UNIVERSITÀ DI MESSINA, MESSINA - ITALIA
Titolo di Studio
BACHELOR
Qualifica conseguita
DOTTORE IN MEDICINA E CHIRURGIA
Livello nella classificazione
nazionale
108/110
PUBBLICAZIONI
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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), SENIOR-LOKEN 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.
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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 AUTOSOMALRECESSIVE INHERITANCE.
Anno pubblicazione e
riferimenti
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 BETA-THALASSEMIA 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
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(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.
Anno pubblicazione e
riferimenti
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.
Anno pubblicazione e
riferimenti
HUM MUTAT. 2009 FEB;30(2):E432-42.
ANNO: 2009 - ISBN:
Titolo
Autori
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THE QUALITY OF LIFE OF CHILDREN AND ADOLESCENTS WITH XLINKED AGAMMAGLOBULINEMIA.
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.
Anno pubblicazione e
riferimenti
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 TOLLLIKE 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 GENOTYPEPHENOTYPE CORRELATION WAS PERFORMED. RESULTS:
NOD2/CARD15 R702W MUTATION WAS SIGNIFICANTLY MORE
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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.
Anno pubblicazione e
riferimenti
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
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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.
Anno pubblicazione e
riferimenti
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%).
Anno pubblicazione e
riferimenti
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
Abstract
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SILVANA B, ANTONELLA LM, BASILIA P, TROMBETTA D, SAIJA A,
SALPIETRO C.
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.
Anno pubblicazione e
riferimenti
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
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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.
Anno pubblicazione e
riferimenti
ALLERGY ASTHMA PROC. 2007 NOV-DEC;28(6):667-70.
ANNO: 2007 - ISBN:
Titolo
CEP290 MUTATIONS ARE FREQUENTLY IDENTIFIED IN THE OCULORENAL 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.
Anno pubblicazione e
riferimenti
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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.
Anno pubblicazione e
riferimenti
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
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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.
Anno pubblicazione e
riferimenti
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;
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THE POSSIBILITY OF A ROLE FOR CARBONYL STRESS IN THE
PROGRESSION AND SEVERITY OF THE DISEASE NEEDS FURTHER
INVESTIGATION.
Anno pubblicazione e
riferimenti
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.
Anno pubblicazione e
riferimenti
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).
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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-BY-PRICK
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 VISUALANALOG 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.
Anno pubblicazione e
riferimenti
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
Anno pubblicazione e
riferimenti
AM J MED GENET A. 2005 DEC 1;139A(2):159-61.
ANNO: 2005 - ISBN:
Titolo
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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/CMAAFFECTED INFANTS.
Anno pubblicazione e
riferimenti
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
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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 MACROPHAGETROPIC STRAINS OF HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 (HIV1). 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.
Anno pubblicazione e
riferimenti
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, ALTAWARI 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
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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, MIDBRAINHINDBRAIN 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.
Anno pubblicazione e
riferimenti
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
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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.
Anno pubblicazione e
riferimenti
PEDIATR RES. 2004 DEC;56(6):988-93. EPUB 2004 OCT 6.
ANNO: 2004 - ISBN:
Titolo
A HOMOZYGOUS GJA1 GENE MUTATION CAUSES A HALLERMANNSTREIFF/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.
Anno pubblicazione e
riferimenti
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
Abstract
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RIGOLI L, DI BELLA C, PROCOPIO V, BARBERIO G, BARBERI I, CAMINITI
L, LA GRUTTA S, BRIUGLIA S, SALPIETRO CD, PAJNO GB.
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.
Anno pubblicazione e
riferimenti
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
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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
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•
Page 22 of 27
COMPONENTE DEL CONSIGLIO DIRETTIVO DELLA S.I.P
SEZIONE SICILIANA NEL BIENNIO 1984-1986
• COMPONENTE, SU INVITO, DEL COMITATO DI ESPERTI
DELLA
CONSENSUS
“INTERPRETAZIONE
DEI
CONFERENCE
DATI
DI
SU
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
(ASSOCIAZIONE
AL
2006
PRESIDENTE
PEDIATRICA
DI
DELL’APIG
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.
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•
Page 23 of 27
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
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Page 24 of 27
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
DELL’ISTITUTO
IN
BIOETICA
TEOLOGICO
E
SAN
SESSUOLOGIA
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
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•
NEL
2007
E
NEL
2009
Page 25 of 27
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
NABLUS
•
INTERNATIONAL
SULLA
JOUBERT
SINDROME
SINDROME
DI
RELATE
DISORDERS STUDY GROUP
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•
ITALIAN
NETWORK
Page 26 of 27
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)
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•
SCREENING
MOLECOLARE
DI
Page 27 of 27
MUTAZIONI
E/O
DELEZIONI DEL GENE A-GLOBINICO IN SOGGETTI
PORTATORI DEL TRAIT BETA-TALASSEMICO: INDAGINE
EPIDEMIOLOGICA
(FINANZIAMENTO
NELLA
SICILIA
REGIONE
ORIENTALE
SICILIANA
CHE
CONTEMPLA ANCHE 1 BORSA DI STUDIO DI UN ANNO
PER 1 BIOLOGO)
•
LIVELLI SERICI DI GRUPPI CARBONILICI PROTEICI IN
PAZIENTI
CON
(FINANZIAMENTO
BETA
TALASSEMIA
REGIONE
SICILIANA
MAJOR
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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