IAS-LAB PUBLICATIONS
Progressive external ophthalmoplegia (PEO), Kearns–Sayre syndrome (KSS) and Pearson syndrome are the three sporadic clinical syndromes classically associated with single large-scale deletions of mitochondrial DNA (mtDNA). PEO plus is a term frequently utilized in the clinical setting to identify patients with PEO and some degree of multisystem involvement, but a precise definition is not available. The purpose of the present study is to better define the clinical phenotypes associated with a single mtDNA deletion, by a retrospective study on a large cohort of 228 patients from the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”. In our database, single deletions account for about a third of all patients with mtDNA-related disease, more than previously recognized. We elaborated new criteria for the definition of PEO and “KSS spectrum” (a category of which classic KSS represents the most severe extreme). The criteria for “KSS spectrum” include the resulting multisystem clinical features associated with the KSS features, and which therefore can predict their presence or subsequent development. With the new criteria, we were able to classify nearly all our single-deletion patients: 64.5 % PEO, 31.6 % KSS spectrum (including classic KSS 6.6 %) and 2.6 % Pearson syndrome. The deletion length was greater in KSS spectrum than in PEO, whereas heteroplasmy was inversely related with age at onset. We believe that the new phenotype definitions implemented here may contribute to a more homogeneous patient categorization, which will be useful in future cohort studies of natural history and clinical trials.
Authors: Redefining phenotypes associated with mitochondrial DNA single deletion; 2015 Neurol Clin; Neurol Clin; IRCCS; IRCCS Ist Sci Neurol Bologna; IRCCS Fdn Ca Granda Osped Maggiore Policlin; Meyer Childrens Hosp; Dept Med Surg & Neurosci; Neuropediat; Fdn IRCCS Ca Granda Osped Maggiore Policlin; Dept Neurosci; Inst Neurol; Unit Mol Neurogenet; Child Neurol Unit
Journal: Redefining phenotypes associated with mitochondrial DNA single deletion
Published: Mancuso, M; Orsucci, D; Angelini, C; Bertini, E; Carelli, V; Comi, GP; Donati, MA; Federico, A; Minetti, C; Moggio, M; Mongini, T; Santorelli, FM; Servidei, S; Tonin, P; Toscano, A; Bruno, C; Bello, L; Ienco, EC; Cardaioli, E; Catteruccia, M; Da Pozzo, P; Filosto, M; Lamperti, C; Moroni, I; Musumeci, O; Pegoraro, E; Ronchi, D; Sauchelli, D; Scarpelli, M; Sciacco, M; Valentino, ML; Vercelli, L; Zeviani, M; Siciliano, G;
DOI: false
WOS.SCI
Volume: Mancuso||Orsucci||Angelini||Bertini||Carelli||Comi||Donati||Federico||Minetti||Moggio||Mongini||Santorelli||Servidei||Tonin||Toscano||Bruno||Bello||Caldarazzo Ienco||Cardaioli||Catteruccia||Da Pozzo||Filosto||Lamperti||Moroni||Musumeci||Pegoraro||Ronchi||Sauchelli||Scarpelli||Sciacco||Valentino||Vercelli||Zeviani||Siciliano Pages: 104458839||104458839||112781907||103921813||104534016||103195563||115102061||113240986||113699239||104638385||113142508||115102061||112781907||104458839||103195563||103921813||103195563||113699233||103893881||106952425||113142508||112781907||104534016||104638385||113240986||113699239||103893881||104458839-closed
Keywords: 2015
AREA MIN. 09 – Ingegneria industriale e dell’informazione||AREA MIN. 09 – Ingegneria industriale e dell’informazione||AREA MIN. 09 – Ingegneria industriale e dell’informazione – ITA||CHE
Authors: AREA MIN. 09 - Ingegneria industriale e dell'informazione; ITA; CHE; title_year; MATCH; 1
Published: Proceedings of 37TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE Engineering in Medicine and Biology Society, EMBC 2015
Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded by the GALNS gene. We studied 37 MPS IV A patients and defined genotype-phenotype correlations based on clinical data, biochemical assays, molecular analyses, and in silico structural analyses of associated mutations. We found that standard sequencing procedures, albeit identifying 14 novel small GALNS genetic lesions, failed to characterize the second disease-causing mutation in the 16% of the patients’ cohort. To address this drawback and uncover potential gross GALNS rearrangements, we developed molecular procedures (CNV [copy-number variation] assays, QF-PCRs [quantitative fluorescent-PCRs]), endorsed by CGH-arrays. Using this approach, we characterized two new large deletions and their corresponding breakpoints. Both deletions were heterozygous and included the first exon of the PIEZO1 gene, which is associated with dehydrated hereditary stomatocitosis, an autosomal-dominant syndrome. In addition, we characterized the new GALNS intronic lesion c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair. We estimated the occurrence of the disease in the Italian population to be approximately 1:300,000 live births and defined a molecular testing algorithm designed to help diagnosing MPS IVA and foreseeing disease progression.
Authors: Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations; 2015 Neurosci Dept; Neurosci Dept; Dept Pediat; Clin Genet Unit; UO Pediat 2; Lab Diag Prepostnatale Malattie Metab Genoa; Dept Pediat Sci; Bioinformat; Sch Med; Genet Ctr; SMEL; William Harvey Res Inst; Med Genet Unit
Journal: Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations
Published: Caciotti, A; Tonin, R; Rigoldi, M; Ferri, L; Catarzi, S; Cavicchi, C; Procopio, E; Donati, MA; Ficcadenti, A; Fiumara, A; Barone, R; Garavelli, L; Di Rocco, M; Filocamo, M; Antuzzi, D; Scarpa, M; Mooney, SD; Li, BA; Skouma, A; Bianca, S; Concolino, D; Casalone, R; Monti, E; Pantaleo, M; Giglio, S; Guerrini, R; Parini, R; Morrone, A;
DOI: false
WOS.SCI
Volume: Caciotti||Tonin||Rigoldi||Ferri||Catarzi||Cavicchi||Procopio||Donati||Ficcadenti||Fiumara||Barone||Garavelli||Rocco||Filocamo||Antuzzi||Scarpa||Mooney||Li||Skouma||Bianca||Concolino||Casalone||Monti||Pantaleo||Giglio||Guerrini||Parini||Morrone Pages: 113950731||114001411||105514465||114001411||113950731||113950731||113950731||113950731||102396996||124687399||124687399||115050613||104623613||112691879||100259331||100284496||114524222||108791048||107903429||107903429||114001411||105514465||114001411-closed
Keywords: 2015
BOLOGNA – ITA
Authors: AREA MIN. 10 - Scienze dell'antichita,filologico-letterarie e storico-artistiche; ITA; title_year; MATCH; 1
Published: Mi traduci una storia ? Riflessioni sulla traduzione per l’infanzia e per i ragazzi
ValladolidSpag
Authors: AREA MIN. 10 - Scienze dell'antichita,filologico-letterarie e storico-artistiche; Non assegn; ESP; title_year; MATCH; 1
Published: Metodologías y aplicaciones en la investigación en traducción e interpretación con corpus [Methodologies and applications in corpus-based and corpus-driven Translation and Interpreting re-search]
Objective A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool. Design/methods 17 Italian neuromuscular centres were involved in the late-onset Pompe early diagnosis (LOPED) study. Inclusion criteria were: (1) age ≥5 years, (2) persistent hyperCKaemia and (3) muscle weakness at upper and/or lower limbs (limb-girdle muscle weakness, LGMW). Acid α-glucosidase (GAA) activity was measured separately on DBS by fluorometric as well as tandem mass spectrometry methods. A DBS retest was performed in patients resulted positive at first assay. For the final diagnosis, GAA deficiency was confirmed by a biochemical assay in skeletal muscle, whereas genotype was assessed by GAA molecular analysis. Results In a 14-month period, we studied 1051 cases: 30 positive samples (2.9%) were detected by first DBS screening, whereas, after retesting, 21 samples were still positive. Biochemical and molecular genetic studies finally confirmed LOPD diagnosis in 17 cases (1.6%). The mmedian time from the onset of symptoms/signs to diagnosis was 5 years. Among those patients, 35% showed presymptomatic hyperCKaemia and 59% showed hyperCKaemia+LGMW, whereas 6% manifested with LGMW. Conclusions LOPED study suggests that GAA activity should be accurately screened by DBS in all patients referring for isolated hyperCKaemia and/or LGMW. A timely diagnosis was performed in five patients with presymptomatic hyperCKaemia, but two had already manifested with relevant changes on muscle morphology and MRI. Consequently, enzyme replacement therapy was started in 14/17 patients, including the 2 patients still clinically presymptomatic but with a laboratory evidence of disease progression.
Authors: LOPED study: Looking for an early diagnosis in a late-onset Pompe disease high-risk population; 2016 Dept Neurosci; Dept Neurosci Psychol Pharmacol & Child Hlth; Dept Neurosci; Dept Pathophysiol & Transplantat DEPT; Neurol Clin; Fac Med & Psychol; IRCCS; Neuroimmunol & Neuromuscular Dis Unit; Neuromuscular Unit; Inst Neurol; Dept Neurosci Rita Levi Montalcini
Journal: LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
Published: Musumeci, O; la Marca, G; Spada, M; Mondello, S; Danesino, C; Comi, GP; Pegoraro, E; Antonini, G; Marrosu, G; Liguori, R; Morandi, L; Moggio, M; Massa, R; Ravaglia, S; Di Muzio, A; Filosto, M; Tonin, P; Di Iorio, G; Servidei, S; Siciliano, G; Angelini, C; Mongini, T; Toscano, A;
DOI: false
WOS.SCI
Volume: Musumeci||Marca||Spada||Mondello||Danesino||Comi||Pegoraro||Antonini||Marrosu||Liguori||Morandi||Moggio||Massa||Ravaglia||Muzio||Filosto||Tonin||Iorio||Servidei||Siciliano||Angelini||Mongini||Toscano||Montagnese||Barca||Ombrone||Pagliardini||Vercelli||De Filippi||Ronchi||Lucchini||Semplicini||Garibaldi||Piras||Maggi||Terracciano||Scarpelli||Ciccocioppo||Chieti||Primiano||Ricci Pages: 111205131||113894192||113699239||111205131||104534016||112781907||127211359||126617053||103893920||104532509||113699233||104638385||104458839||114302369||111205131||121031846-closed
Keywords: 2016
scopus.description.allpeopleoriginal
Authors: eng 2-s2.0-0021679414
Journal: Italy||Italy||Italy||Italy||Italy||Italy
Published: false
Volume: Burlina A.; Rizzotti P.; Plebani M.; Cocco C.; Vassanelli C.; Menegatti G. Pages: Burlina||Rizzotti||Plebani||Cocco||Vassanelli||Menegatti-This study was carried out on patients of a coronary unit to evaluate the diagnostic efficiency of total CPK and CPK-MB by using different analytical techniques: catalytic, immunoassisted, cellulose acetate electrophoresis, radioimmunoassay and immunoradiometric assay. The behaviour of the enzyme was studied in all patients with reference to the localization and extent of the infarct. In all cases a diagnostic algorithm was followed based on the combined use of CPK and its MB isoenzyme; the activity was measured twice, at three-hour intervals after admission. In this way the utilization of total CPK and MB isoenzyme allows almost complete diagnostic efficiency within the first 9 hours from onset of chest pain, together with the possibility of calculating the slope of the curve of MB isoenzyme release useful for calculating infarct size. Maximum diagnostic efficiency is also obtained in cases of small infarcts, with silent ECG, and those difficult to classify clinically. © 1984 The Canadian Society of Clinical Chemists.
scopus.description.abstract||scopus.description.allpeopleoriginal||scopus.relation.issue||scopus.title
Authors: ita 2-s2.0-0022016760
Published: pmid
Volume: Vassanelli C.; Menegatti G.; Rizzotti P.; Cocco C.; Plebani M.; Burlina A.; Zardini P. Pages: Vassanelli||Menegatti||Rizzotti||Cocco||Plebani||Burlina||Zardini-To define the optimal diagnostic strategy for acute myocardial infarction, 225 patients with suspected myocardial infarction were studied by serial (3 hour intervals) sampling for CK and CK-MB enzyme activity. In 12 patients the diagnosis of myocardial infarction was rejected. In the remaining 213 the myocardial infarction was transmural in 183 (anterior in 79, postero-inferior in 95, anterior and inferior in 9), non transmural in 30. In these patients the mean increase of enzyme activity, the time to pick activity and the infarct size (Sobel method) were measured. The best diagnostic sensitivity in the early phases of myocardial infarction was obtained by the combined use of CK and CK-MB determinations (95.9% of the diagnosis at 9 hours after the acute event). However the percent of positivity of CK & CK-MB values occurred significantly (p less than 0.01) later in non transmural (4.3% at 3, 34.7% at 6 and 86.9% at 9 hours after the onset of the chest pain) than in transmural myocardial infarction (25.2% at 3, 54.4% at 6 and 97.6% at 9 hours) and among these in inferior as compared to anterior (18.7% vs 32.2% at 3 hours, 46.8% vs 62.7% at 6 hours and 96.8% vs 98.3% at 9 hours). The CK/CK-MB ratio was of limited diagnostic value because it was increased (greater than 8) in most of the patients, either with normal or abnormal enzymes activities. Early kinetics differed in the different anatomo-clinical types of infarction. In all locations of myocardial infarction the mean enzyme activity increase was significantly correlated with the calculated enzymatic infarct size.(ABSTRACT TRUNCATED AT 250 WORDS)
https://doi.org/10.1103/physrevlett.81.942
Authors: 946 ONE PHYSICS ELLIPSE, COLLEGE PK, MD 20740-3844 USA; eng 2-s2.0-4243328762
Published: false
DOI: bronze
Volume: Abe K.; Abe K.; Abe T.; Adam I.; Akagi T.; Allen N.J.; Arodzero A.; Ash W.W.; Aston D.; Baird K.G.; Baltay C.; Band H.R.; Barakat M.B.; Bardon O.; Barklow T.L.; Bauer J.M.; Bellodi G.; Ben David R.; Benvenuti A.C.; Bilei G.M.; Bisello D.; Blaylock G.; Bogart J.R.; Bolen B.; Bower G.R.; Brau J.E.; Breidenbach M.; Bugg W.M.; Burke D.; Burnett T.H.; Burrows P.N.; Calcaterra A.; Caldwell D.O.; Calloway D.; Camanzi B.; Carpinelli M.; Cassell R.; Castaldi R.; Castro A.; Cavalli Sforza M.; Chou A.; Church E.; Cohn H.O.; Coller J.A.; Convery M.R.; Cook V.; Cotton R.; Cowan R.F.; Coyne D.G.; Crawford G.; Damerell C.J.S.; Danielson M.N.; Daoudi M.; de Groot N.; Dell'orso R.; Dervan P.J.; de Sangro R.; Dima M.; D'oliveira A.; Dong D.N.; Du P.Y.C.; Dubois R.; Eisenstein B.I.; Eschenburg V.; Etzion E.; Fahey S.; Falciai D.; Fan C.; Fernandez J.P.; Fero M.J.; Flood K.; Frey R.; Gillman T.; Gladding G.; Gonzalez S.; Hart E.L.; Harton J.L.; Hasan A.; Hasuko K.; Hedges S.J.; Hertzbach S.S.; Hildreth M.D.; Huber J.; Huffer M.E.; Hughes E.W.; Huynh X.; Hwang H.; Iwasaki M.; Jackson D.J.; Jacques P.; Jaros J.A.; Jiang Z.Y.; Johnson A.S.; Johnson J.R.; Johnson R.A.; Junk T.; Kajikawa R.; Kalelkar M.; Kamyshkov Y.; Kang H.J.; Karliner I.; Kawahara H.; Kim Y.D.; King R.; King M.E.; Kofler R.R.; Krishna N.M.; Kroeger R.S.; Langston M.; Lath A.; Leith D.W.G.; Lia V.; Lin C.-J.S.; Liu X.; Liu M.X.; Loreti M.; Lu A.; Lynch H.L.; Ma J.; Mancinelli G.; Manly S.; Mantovani G.; Markiewicz T.W.; Maruyama T.; Masuda H.; Mazzucato E.; Mc Kemey A.K.; Meadows B.T.; Menegatti G.; Messner R.; Mockett P.M.; Moffeit K.C.; Moore T.B.; Morii M.; Muller D.; Murzin V.; Nagamine T.; Narita S.; Nauenberg U.; Neal H.; Nussbaum M.; Oishi N.; Onoprienko D.; Osborne L.S.; Panvini R.S.; Park H.; Park C.H.; Pavel T.J.; Peruzzi I.; Piccolo M.; Piemontese L.; Pieroni E.; Pitts K.T.; Plano R.J.; Prepost R.; Prescott C.Y.; Punkar G.D.; Quigley J.; Ratcliff B.N.; Reeves T.W.; Reidy J.; Reinertsen P.L.; Rensing P.E.; Rochester L.S.; Rowson P.C.; Russell J.J.; Saxton O.H.; Schalk T.; Schindler R.H.; Schumm B.A.; Schwiening J.; Sen S.; Serbo V.V.; Shaevitz M.H.; Shank J.T.; Shapiro G.; Sherden D.J.; Shmakov K.D.; Simopoulos C.; Sinev N.B.; Smith S.R.; Smy M.B.; Snyder J.A.; Staengle H.; Stahl A.; Stamer P.; Steiner H.; Steiner R.; Strauss M.G.; Su D.; Suekane F.; Sugiyama A.; Suzuki S.; Swartz M.; Szumilo A.; Takahashi T.; Taylor F.E.; Thom J.; Torrence E.; Toumbas N.K.; Trandafir A.I.; Turk J.D.; Usher T.; Vannini C.; Va'vra J.; Vella E.; Venuti J.P.; Verdier R.; Verdini P.G.; Wagner S.R.; Wagner D.L.; Waite A.P.; Walston S.; Wang J.; Ward C.; Watts S.J.; Weidemann A.W.; Weiss E.R.; Whitaker J.S.; White S.L.; Wickens F.J.; Williams B.; Williams D.C.; Williams S.H.; Willocq S.; Wilson R.J.; Wisniewski W.J.; Wittlin J.L.; Woods M.; Word G.B.; Wright T.R.; Wyss J.; Yamamoto R.K.; Yamartino J.M.; Yang X.; Yashima J.; Yellin S.J.; Young C.C.; Yuta H.; Zapalac G.; Zdarko R.W.; Zhou J.
https://doi.org/10.1103/physrevlett.83.1902
Authors: 1907 ONE PHYSICS ELLIPSE, COLLEGE PK, MD 20740-3844 USA; eng 2-s2.0-4244092322
Published: false
DOI: bronze
Volume: Abe K.; Abe K.; Abe T.; Adam I.; Akagi T.; Allen N.J.; Arodzero A.; Ash W.W.; Aston D.; Baird K.G.; Baltay C.; Band H.R.; Barakat M.B.; Bardon O.; Barklow T.L.; Bashindzhagyan G.L.; Bauer J.M.; Bellodi G.; Ben-David R.; Benvenuti A.C.; Bilei G.M.; Bisello D.; Blaylock G.; Bogart J.R.; Bolen B.; Bower G.R.; Brau J.E.; Breidenbach M.; Bugg W.M.; Burke D.; Burnett T.H.; Burrows P.N.; Byrne R.M.; Calcaterra A.; Calloway D.; Camanzi B.; Carpinelli M.; Cassell R.; Castaldi R.; Castro A.; Cavalli-Sforza M.; Chou A.; Church E.; Cohn H.O.; Coller J.A.; Convery M.R.; Cook V.; Cotton R.; Cowan R.F.; Coyne D.G.; Crawford G.; Damerell C.J.S.; Danielson M.N.; Daoudi M.; De Groot N.; Dell-Orso R.; Dervan P.J.; De Sangro R.; Dima M.; Oliveira A.D.; Dong D.N.; Doser M.; Dubois R.; Eisenstein B.I.; Eschenburg V.; Etzion E.; Fahey S.; Falciai D.; Fan C.; Fernandez J.P.; Fero M.J.; Flood K.; Frey R.; Gillman T.; Gladding G.; Gonzalez S.; Goodman E.R.; Hart E.L.; Harton J.L.; Hasan A.; Hasuko K.; Hedges S.J.; Hertzbach S.S.; Hildreth M.D.; Huber J.; Huffer M.E.; Hughes E.W.; Huynh X.; Hwang H.; Iwasaki M.; Jackson D.J.; Jacques P.; Jaros J.A.; Jiang Z.Y.; Johnson A.S.; Johnson J.R.; Johnson R.A.; Junk T.; Kajikawa R.; Kalelkar M.; Kamyshkov Y.; Kang H.J.; Karliner I.; Kawahara H.; Kim Y.D.; King R.; King M.E.; Kofler R.R.; Krishna N.M.; Kroeger R.S.; Langston M.; Lath A.; Leith D.W.G.; Lia V.; Lin C.-J.S.; Liu X.; Liu M.X.; Loreti M.; Lu A.; Lynch H.L.; Ma J.; Mahjouri M.; Mancinelli G.; Manley S.; Mantovani G.; Markiewicz T.W.; Maruyama T.; Masuda H.; Mazzucato E.; Mc Kemey A.K.; Meadows B.T.; Menegatti G.; Messner R.; Mockett P.M.; Moffeit K.C.; Moore T.B.; Morii M.; Muller D.; Murzin V.; Nagamine T.; Narita S.; Nauenberg U.; Neal H.; Nussbaum M.; Oishi N.; Onoprienko D.; Osborne L.S.; Panvini R.S.; Park H.; Park C.H.; Pavel T.J.; Peruzzi I.; Piccolo M.; Piemontese L.; Pieroni E.; Pitts K.T.; Plano R.J.; Prepost R.; Prescott C.Y.; Punkar G.D.; Quigley J.; Ratcliff B.N.; Reeves T.W.; Reidy J.; Reinertsen P.L.; Rensing P.E.; Rochester L.S.; Rowson P.C.; Russell J.J.; Saxton O.H.; Schalk T.; Schindler R.H.; Schumm B.A.; Schwiening J.; Sen S.; Serbo V.V.; Shaevitz M.H.; Shank J.T.; Shapiro G.; Sherden D.J.; Shmakov K.D.; Simopoulos C.; Sinev N.B.; Smith S.R.; Smy M.B.; Snyder J.A.; Staengle H.; Stahl A.; Stamer P.; Steiner R.; Steiner H.; Strauss M.G.; Su D.; Suekane F.; Sugiyama A.; Suzuki S.; Swartz M.; Szumilo A.; Takahashi T.; Taylor F.E.; Thom J.; Torrence E.; Toumbas N.K.; Usher T.; Vannini C.; Vavra J.; Vella E.; Venuti J.P.; Verdier R.; Verdini P.G.; Wagner S.R.; Wagner D.L.; Waite A.P.; Walston S.; Wang J.; Ward C.; Watts S.J.; Weidemann A.W.; Weiss E.R.; Whitaker J.S.; White S.L.; Wickens F.J.; Williams B.; Williams D.C.; Williams S.H.; Willocq S.; Wilson R.J.; Wisniewski W.J.; Wittlin J.L.; Woods M.; Word G.B.; Wright T.R.; Wyss J.; Yamamoto R.K.; Yamartino J.M.; Yang X.; Yashima J.; Yellin S.J.; Young C.C.; Yuta H.; Zapalac G.; Zdarko R.W.; Zhou J.