1 Formato Europeo per il Curriculum Vitae Informazioni Personali Nome SALPIETRO DAMIANO Carmelo Telefono +39 (090) Fax Nazionalità italiana Data di Nascita 08/02/1952 Esperienza Lavorativa Date (da - a) 01/10/ 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 di Studio Spec.ne in Ematologia Qualifica conseguita Specialista in ematologia Livello nella classificazione nazionale 50/50 Date (da - a) - 07/07/1979 Nome e tipo di istituto di istruzione o formazione Università di Messina, Messina - Italia 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 di Studio Bachelor Qualifica conseguita Dottore in medicina e chirurgia Livello nella classificazione nazionale 108/110 Pubblicazioni Expanding CEP290 mutational spectrum in ciliopathies.
2 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 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. Am J Med Genet A Oct;149A(10): Anno: ISBN: Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. Salpietro CD, Briuglia S, Cutrupi MC, Gallizzi R, Rigoli L, Dallapiccola B. 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 ). 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 Oct;149A(10): Anno: ISBN: 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. de Gregorio C, Piraino B, Morabito G, Salpietro CD, Coglitore S. 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
3 (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 Jun 27. [Epub ahead of print] Anno: ISBN: MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 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, 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 Feb;30(2):E Anno: ISBN: The quality of life of children and adolescents with X-linked 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. 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): Anno: ISBN: Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease. 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. 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.
4 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 Jul 28;14(28): Anno: ISBN: 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. Rigoli L, Caminiti L, Di Bella C, Procopio V, Cuppari C, Vita D, Barberio G, Salpietro C, Pajno GB. 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 May;33(3): Epub 2008 Feb 28. Anno: ISBN: RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. 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. 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
5 RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%). Clin Genet Aug;74(2): Epub 2008 Jun 28. Anno: ISBN: Rituximab for the treatment of post-bone marrow transplantation refractory hemolytic anemia in a child with Omenn's syndrome. 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. Pediatr Transplant Aug;11(5): Anno: ISBN: Uteroglobin-related protein 1 gene -112G/a polymorphism and atopic asthma in Sicilian children. Rigoli L, Di Bella C, Procopio V, Finocchiaro G, Amorini M, Lo Giudice G, Cuppari C, Salpietro CD. 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 Nov-Dec;28(6): Anno: ISBN: CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 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
6 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 Jul;81(1): Epub 2007 May 18. Anno: ISBN: Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2. Di Bella C, Salpietro C, La Rosa M, Cuppari C, Piraino B, Cutri MR, Rigoli L. 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 Dec;85(12): Epub 2006 Sep 2. Anno: ISBN: 14.Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. 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# ). 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 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
7 in the evaluation of multiple malformation syndromes of previously unrecognized causation. Copyright 2006 Wiley-Liss, Inc. Am J Med Genet A Jun 15;140(12): Anno: ISBN: Increased protein carbonyl groups in the serum of patients affected by thalassemia major. Trombetta D, Gangemi S, Saija A, Minciullo PL, Cimino F, Cristani M, Briuglia S, Piraino B, Isola S, Salpietro CD. 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 Aug;85(8): Epub 2006 May 6. Anno: ISBN: AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 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, 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 Mar;59(3): Anno: ISBN: Looking for immunotolerance: a case of allergy to baker's yeast (Saccharomyces cerevisiae). Pajno GB, Passalacqua G, Salpietro C, Vita D, Caminiti L, Barberio G. 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
8 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 Sep;37(7): Anno: ISBN: Report of a third family with Oliver syndrome. Salpietro CD, Briuglia S, Bertuccio G, Rigoli L, Mingarelli R, Dallapiccola B. Am J Med Genet A Dec 1;139A(2): Anno: ISBN: The almond milk: a new approach to the management of cow-milk allergy/intolerance in infants. Salpietro CD, Gangemi S, Briuglia S, Meo A, Merlino MV, Muscolino G, Bisignano G, Trombetta D, Saija A. 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 Aug;57(4): Anno: ISBN: Distribution of the mutated delta 32 allele of the CCR5 gene in a Sicilian population. Sidoti A, D'Angelo R, Rinaldi C, De Luca G, Pino F, Salpietro C, Giunta DE, Saltalamacchia F, Amato A. 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
9 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 / The highest value was observed in the province of Messina, with a mean delta32 allele frequency of / , where we collected samples from a cohort of 114 HIV-1-infected individuals. The observed frequency amongst these patients was quite low (fr = / ) compared to the healthy population, although the difference was not statistically significant. Int J Immunogenet Jun;32(3):193-8 Anno: ISBN: Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 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. 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 Apr;57(4): Anno: ISBN: Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies. Rigoli L, Chimenz R, di Bella C, Cavallaro E, Caruso R, Briuglia S, Fede C, Salpietro CD. 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
10 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 Dec;56(6): Epub 2004 Oct 6. Anno: ISBN: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B. 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 Mar;23(3):286. Anno: ISBN: Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families. 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. Allergy Feb;59(2): Anno: 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
11 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 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 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 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 Componente del Direttivo dell Ordine dei Medici di Messina per il triennio in qualità di Vicepresidente. Riconfermato Vicepresidente per il triennio 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 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 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.
12 ATTIVITA DIDATTICA TRIENNIO 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 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 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 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)
13 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 Esci CV
Vitamina D e Patalogie del Metabolismo Osseo In Pediatria Update on Vitamin D & Bone Disease in Childhood Hotel Galilei, Pisa - 17 Maggio 2013 Presidente: Giuseppe Saggese PROGRAMM BSTRACT BOOK PATROCINI
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