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11. 18‐year follow‐up of enzyme‐replacement therapy in two siblings with attenuated mucopolysaccharidosis I.

Author

Pjetraj, Dorina, Santoro, Lucia, Sgattoni, Claudia, Padella, Lucia, Zampini, Lucia, Monachesi, Chiara, Gabrielli, Orazio, and Catassi, Carlo

Abstract

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder caused by the deficiency of α‐L‐iduronidase and characterized by a progressive course with multisystem involvement. Clinically, MPS I is divided into two forms: (1) severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement; (2) attenuated (Hurler/Scheie and Scheie syndromes), which displays a slower progression and absent to mild nervous system involvement. The specific treatment for attenuated MPS I consists of enzyme‐replacement therapy with laronidase (human recombinant α‐L‐iduronidase, Aldurazyme). We present updated data after 18 years of laronidase treatment in two siblings affected by the attenuated form of MPS I who started therapy at 5 months and 5 years of age, respectively. Clinical and laboratory data of the siblings show that long‐term enzyme replacement therapy may improve/stabilize many symptoms already present at the time of the diagnosis and reduce the disease progression. This study confirms that early diagnosis and early initiation of enzyme‐replacement therapy are essential to modify positively the natural history of the attenuated form of MPS I. [ABSTRACT FROM AUTHOR]

Published
2023
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19. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations

Author

Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J., Dentici, Maria L., Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F., Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B., Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C., Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., and Tartaglia, Marco

Published
2011
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20. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

Author

Bertola, Francesca, Filocamo, Mirella, Casati, Giorgio, Mort, Matthew, Rosano, Camillo, Tylki-Szymanska, Anna, Tysz, Beyhan, Gabrielli, Orazio, Grossi, Serena, Scarpa, Maurizio, Parenti, Giancarlo, Antuzzi, Daniela, Dalmau, Jaime, Rocco, Maja Di, Vici, Carlo Dionisi, Okur, Ilyas, Rosell, Jordi, Rovelli, Attilio, Furlan, Francesca, Rigoldi, Miriam, Biondi, Andrea, Cooper, David N, and Parini, Rossella

Published
2011
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25. Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly: Report of 14 Novel Mutations and Review of the Literature

Author

Callewaert, Bert L., Loeys, Bart L., Ficcadenti, Anna, Vermeer, Sascha, Landgren, Magnus, Kroes, Hester Y., Yaron, Yuval, Pope, Michael, Foulds, Nicola, Boute, Odile, Galán, Francisco, Kingston, Helen, Van der Aa, Nathalie, Salcedo, Iratxe, Swinkels, Marielle E., Wallgren-Pettersson, Carina, Gabrielli, Orazio, De Backer, Julie, Coucke, Paul J., and De Paepe, Anne M.

Published
2009
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26. Molecular analysis of SALL1 (ital) mutations in Townes-Brocks syndrome

Author

Kohlhase, Jurgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., Kate, Leo P. ten, Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jorg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby-van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, and Engel, Wolfgang

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Birth defects -- Genetic aspects, Mutation (Biology) -- Research, Gene mutations -- Research, Biological sciences
Abstract

Townes-Brocks syndrome (TBS), an autosomal dominantly inherited malformation syndrome, is caused by mutations in the putative zinc finger transcription factor gene SALL1 (ital). Twenty-three families with TBS or similar phenotypes have been studied for SALL1 (ital) mutations to determine the spectrum of SALL1 (ital) mutations and to look into genotype-phenotype correlation. In nine of the families mutations exist, none previously described. Two were nonsense mutations and five are short deletions. All were in the the area 5' of the first double zinc finger (DZF) encoding region and predicted to bring on putative prematurely terminated proteins lacking all DZF domains. It seems only SALL1 (ital) mutations that take out DZF domains bring on TBS. In rare cases SALL1 mutations seem to lead to phenotypes like Goldenhar syndrome. Phenotypic variation in TBS seems not to be dependent on mutation site.

Published
1999

30. Changes in carbohydrate composition in human milk over 4 months of lactation

Author

Coppa, Giovanni V., Gabrielli, Orazio, Pierani, Paolo, Catassi, Carlo, Carlucci, Antonio, and Giorgi, Pier L.

Subjects
Breast milk -- Health aspects, Carbohydrates -- Measurement
Abstract

The carbohydrate composition of human milk appears to vary over different phases of lactation. Samples of human milk were taken from 46 lactating mothers in the four months following childbirth. Simple sugars, mostly glucose and fructose, made up about 1.2% of the total carbohydrate content soon after birth, and their concentration gradually declined over the next four months. Lactose concentration rose from 70% of the total carbohydrates at day four to 83% by day 60. The concentration of oligosaccharides, which are complex sugars, dropped from 27% of the total carbohydrates on day four to about 15% by day 60., This study aimed to examine the carbohydrate content (monosaccharides, lactose, and oligosaccharides) of human milk over 4 months of lactation to determine whether any changes occurred over time. Milk samples from 46 mothers, who delivered at term, were collected at 4th, 10th, 30th, 60th, 90th, and 120th days after delivery. Carbohydrates were measured by high-pressure liquid chromatography. Mean lactose concentration ([+ or -]SD) increased from 56[+ or -] 6.06 g/L on day 4 to 68.9 [+ or -] 8.16 g/L on day 120. Oligosaccharide level decreased from 10.9 [+ or -] 4.81 g/L to 12.9 [+ or -] 3.30 g/L, respectively. Monosaccharides represented only 1.2% of total carbohydrates. The changes in carbohydrate composition found indicate that carbohydrate synthesis by the mammary gland is a dynamic process. The physiological and biological relevance of human milk oligosaccharides is also discussed. Pediatrics 1993;91:637-641; human milk, lactation, monosaccharides, lactose, oligosaccharides, carbohydrates.

Published
1993

32. Human milk glycosaminoglycans: the state of the art and future perspectives

Author

Coppa Giovanni Valentino, Gabrielli Orazio, Bertino Enrico, Zampini Lucia, Galeazzi Tiziana, Padella Lucia, Santoro Lucia, Marchesiello Rita Lucia, Galeotti Fabio, Maccari Francesca, and Volpi Nicola

Subjects
Pediatrics, RJ1-570
Abstract

Abstract Recently, a complete characterization and detailed evaluation of the glycosaminoglycans of human milk were performed. The total glycosaminoglycans content in milk from healthy mothers having delivered term or preterm newborns showed a constant pattern which was essentially composed of two main polysaccharides: chondroitin sulfate (60-70%) and heparin (30-40%). Moreover, considerable variations of glycosaminoglycans concentration were found during the first month of lactation, the highest values being present in colostrum compared to mature milk. Metabolism and potential biological functions of human milk glycosaminoglycans are hypothesized and future studies are encouraged.

Published
2013
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33. Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Author

Renieri Alessandra, Prontera Paolo, Priolo Manuela, Patricelli Maria G, Melis Daniela, Mattina Teresa, Lapi Elisabetta, Garavelli Livia, Fischetto Rita, Ferrari Paola, Daolio Cecilia, Douzgou Sofia, Clementi Maurizio, Bonfante Aldo, Accadia Maria, Forzano Francesca, Faravelli Francesca, Dallapiccola Bruno, Digilio Maria C, Calcagnì Alessia, Belligni Elga, D'Addetta Ester V, Zucchetti Federica, Gumiero Barbara, Reymond Alexandre, Silengo Margherita, Loviglio Maria N, Selicorni Angelo, Fusco Carmela, Augello Bartolomeo, Micale Lucia, Mencarelli Maria A, Scarano Gioacchino, Monica Matteo, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, and Merla Giuseppe

Subjects
Medicine
Abstract

Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. Results We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. Conclusions This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management.

Published
2011
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37. Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Author

Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, and Engel, Wolfgang

Published
1999
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38. Preliminary study of breastfeeding and bacterial adhesion to uroepithelial cells

Author

Coppa, Giovanni V., Gabrielli, Orazio, Giorgi, Pierluigi, Catassi, Carol, Montanari, Maria P., Varaldo, Pietro E., and Nichols, Buford L.

Subjects
Breast feeding -- Research, Cell adhesion -- Research, Breast milk -- Composition, Epithelial cells -- Research, Urinary tract infections -- Causes of
Published
1990

40. Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach

Author

Gabrielli, Orazio, primary, Zampini, Lucia, additional, Monachesi, Chiara, additional, Marchesiello, Rita Lucia, additional, Padella, Lucia, additional, Santoro, Lucia, additional, Volpi, Nicola, additional, Concolino, Daniela, additional, Fiumara, Agata, additional, Rigon, Laura, additional, Mazzoli, Milena, additional, Carnielli, Virgilio Paolo, additional, Giovagnoni, Andrea, additional, Catassi, Carlo, additional, Galeazzi, Tiziana, additional, and Coppa, Giovanni Valentino, additional

Published
2017
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41. Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey

Author

Guillem Pintos-Morell, Gabrielli Orazio, Gere Sunder-Plassmann, José Luis Andreu, Derralynn Hughes, Debora Karetova, Jean-Claude Lubanda, Sudheera Magage, Didier Lacombe, Peter Kotanko, Perry Elliott, Marie-Cécile Nassogne, Ales Linhart, and Jose Ballarin

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Vascular disease, Hyperhidrosis, General Medicine, Enzyme replacement therapy, medicine.disease, Fabry disease, Surgery, Quality of life, Cohort, medicine, Age of onset, medicine.symptom, business, Paediatric patients
Abstract

Hypohidrosis is a classic feature of Fabry disease; in contrast, hyperhidrosis has only been rarely described. The aim of the study is to characterise the baseline descriptive data on hyperhidrosis (frequency, age at onset, sex ratio and outcome with and without enzyme replacement therapy) in hemizygous male and heterozygous female patients with Fabry disease. We describe case histories of five patients with Fabry disease and hyperhidrosis seen at three different centres. We have also analysed a cohort of 21 paediatric patients in the UK and a large European cohort of patients enrolled in the Fabry Outcome Survey (FOS). Five patients (three female, two male) with hyperhidrosis were originally identified, although each had additional symptoms related to Fabry disease. The age at onset of hyperhidrosis was less than 18 years in four cases. In the cohort of 21 paediatric patients (12 female, nine male), one female had hyperhidrosis; the age at onset of this symptom was 11 years. In the FOS cohort, 66 of 714 patients with Fabry disease had hyperhidrosis (44 of 369 females, 11.9%; 22 of 345 males, 6.4%). The female predominance was observed in seven of nine countries from which data were analysed. Hyperhidrosis is an increasingly recognised feature of the Fabry disease phenotype. It is more prevalent in females than in males and often appears in childhood or adolescence. The efficacy of enzyme replacement therapy on this recently recognised symptom should be assessed.

Published
2006
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42. Human Milk Oligosaccharides Inhibit the Adhesion to Caco-2 Cells of Diarrheal Pathogens: Escherichia coli, Vibrio cholerae, and Salmonella fyris

Author

Lucia Zampini, Tiziana Galeazzi, L. Ferrante, Gabrielli Orazio, Giovanni V. Coppa, Bruna Facinelli, and Roberta Capretti

Subjects
Diarrhea, Oligosaccharides, medicine.disease_cause, Bacterial Adhesion, Microbiology, Salmonella, Vibrionaceae, Escherichia coli, medicine, Animals, Humans, Enteropathogenic Escherichia coli, Vibrio cholerae, chemistry.chemical_classification, Milk, Human, biology, Epithelial Cells, Pathogenic bacteria, Oligosaccharide, biology.organism_classification, Enterobacteriaceae, Biochemistry, chemistry, Pediatrics, Perinatology and Child Health, Caco-2 Cells, Bacteria
Abstract

Breast-fed children, compared with the bottle-fed ones, have a lower incidence of acute gastroenteritis due to the presence of several antiinfective factors in human milk. The aim of this work is to study the ability of human milk oligosaccharides to prevent infections related to some common pathogenic bacteria. Oligosaccharides of human milk were fractionated by gel-filtration and characterized by thin-layer chromatography and high-performance anion exchange chromatography. Fractions obtained contained, respectively, 1) acidic oligosaccharides, 2) neutral high-molecular-weight oligosaccharides, and 3) neutral low-molecular-weight oligosaccharides. Experiments were carried out to study the ability of oligosaccharides in inhibiting the adhesion of three intestinal microorganisms (enteropathogenic Escherichia coli serotype O119, Vibrio cholerae, and Salmonella fyris) to differentiated Caco-2 cells. The study showed that the acidic fraction had an antiadhesive effect on the all three pathogenic strains studied (with different degrees of inhibition). The neutral high-molecular-weight fraction significantly inhibited the adhesion of E. coli O119 and V. cholerae, but not that of S. fyris; the neutral low-molecular-weight fraction was effective toward E. coli O119 and S. fyris but not V. cholerae. Our results demonstrate that human milk oligosaccharides inhibit the adhesion to epithelial cells not only of common pathogens like E. coli but also for the first time of other aggressive bacteria as V. cholerae and S. fyris. Consequently, oligosaccharides are one of the important defensive factors contained in human milk against acute diarrheal infections of breast-fed infants.

Published
2006
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45. Human milk glycosaminoglycan composition from women of different countries: a pilot study.

Author

Volpi, Nicola, Maccari, Francesca, Galeotti, Fabio, Peila, Chiara, Coscia, Alessandra, Zampini, Lucia, Monachesi, Chiara, Gabrielli, Orazio, and Coppa, Giovanni

Subjects
BREAST milk, COMPOSITION of milk, CHONDROITIN sulfates, HEPARAN sulfate, GOAT milk, PILOT projects
Abstract

Objective: In this pilot study, we report the composition, structure and properties of glycosaminoglycans (GAG) present in milk samples of various countries and ethnicities.Methods: Fifty samples of human milk were analyzed, 10 from east Europe, 10 from North Africa, 10 from Central Africa, 10 from South America and 10 from Asia. Moreover, 30 samples were obtained during the first week and 20 between 8 to 30 days of life.Results: Overall, no significant differences were observed for the qualitative composition of GAGs, mainly chondroitin sulfate, heparan sulfate and hyaluronic acid, comparing the mothers from the various countries and between the 30 milks obtained during the first week and the 20 samples collected thereafter. Moreover, no significant differences in human milk GAGs within the different groups analyzed belonging to various counties and ethnicities were observed.Conclusions: These results may be of useful, as in the case of pilot studies with infant formulas enriched with chondroitin sulfate (CS) and/or heparan sulfate (HS) necessary to verify their possible positive effects on newborns feeding in countries at high risk of infection and/or infestation. [ABSTRACT FROM AUTHOR]

Published
2020
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46. Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

Author

Tummolo, Albina, Gabrielli, Orazio, Gaeta, Alberto, Masciopinto, Maristella, Zampini, Lucia, Pavone, Luigi Michele, Di Natale, Paola, and Papadia, Francesco

Subjects
Article Subject, sense organs
Abstract

Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisystemic involvement and have a short life expectancy. Attenuated forms with clinical features limited to minor skeletal abnormalities and short stature have also been described, sometimes associated to an early-onset osteoporotic phenotype. No treatment with allogenic bone marrow transplantation or gene therapy is currently available for Morquio A syndrome, and enzyme replacement therapy is under evaluation. We report a case of MPS IVA, who manifested tardily attenuated phenotype and significant bone mass reduction, which was treated with a bisphosphonate (BPN), resulting in an improvement of X-ray skeletal aspects and functional bone performance. We suggest that the use of bisphosphonates may be an interesting supportive therapeutic option for Morquio A patients with osteoporotic phenotype, but further studies involving more patients are necessary to confirm our findings.

Published
2013
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48. Human milk glycosaminoglycans inhibit in vitro the adhesion of Escherichia coli and Salmonella fyris to human intestinal cells

Author

Coppa, Giovanni V., primary, Facinelli, Bruna, additional, Magi, Gloria, additional, Marini, Emanuela, additional, Zampini, Lucia, additional, Mantovani, Veronica, additional, Galeazzi, Tiziana, additional, Padella, Lucia, additional, Marchesiello, Rita L., additional, Santoro, Lucia, additional, Coscia, Alessandra, additional, Peila, Chiara, additional, Volpi, Nicola, additional, and Gabrielli, Orazio, additional

Published
2015
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49. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Author

Kristien Hoornaert, Maryse Bonduelle, Frits A. Beemer, Kristi J. Jones, Jenneke van den Ende, Orit Reish, Carlo Marcelis, S. Kjaergaard, Gabrielli Orazio, Kristina Lagerstedt, Bart P. Leroy, Hélène Dollfus, Odile Boute, Anne De Paepe, Yolande H. Kroes, Véronique Paquis, Johanna M. van Hagen, Sarah F. Smithson, Kalle O. J. Simola, Chantal Dewinter, Martine Lemerrer, Raoul C.M. Hennekam, Yolande van Bever, Michèle Mathieu, Erik Björck, Muriel Holder, Laila Bendix, Christine E. M. de Die-Smulders, Leopoldo Zelante, Mariet W. Elting, Carel B. Hoyng, Angela Mendicino, Inge Vereecke, Karen Temple, Cinzia Magnani, Marc De Buyzere, Anne Dieux-Coeslier, Ilkka Kaitila, Elisabeth Van Aken, Riina Zordania, Veronica Ileana Guerci, Loreto Martorell, Thomas Rosenberg, Dragana Josifova, Yvonne Hilhorts-Hofstee, Andrew Green, Meriel McEntagart, Melissa Lees, Jules G. Leroy, Jenny Morton, Paul Coucke, Valérie Cormier-Daire, Geert Mortier, Human genetics, Other Research, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, and Department of Embryology and Genetics

Subjects
Proband, COL2A1, Hearing Loss, Sensorineural, DNA Mutational Analysis, Biology, genotype-phenotype correlation, medicine.disease_cause, Article, Craniofacial Abnormalities, Genomic disorders and inherited multi-system disorders [IGMD 3], Genotype, Genetics, medicine, Humans, type II collagenopathies, Abnormalities, Multiple, Stickler syndrome, Connective Tissue Diseases, Collagen Type II, Gene, Genetic Association Studies, Genetics (clinical), Mutation, Splice site mutation, Sequence Analysis, RNA, Arthritis, Retinal Detachment, genotype–phenotype correlation, Sequence Analysis, DNA, medicine.disease, Phenotype, Osteochondrodysplasia, eye diseases, Cleft Palate, Evaluation of complex medical interventions [NCEBP 2], splice site mutation
Abstract

Contains fulltext : 89172.pdf (Publisher’s version ) (Closed access) Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effect of splice site alterations was investigated by analyzing mRNA. Multiplex ligation-dependent amplification analysis was used for the detection of intragenic deletions. We identified 77 different COL2A1 mutations in 100 affected individuals. Analysis of the splice site mutations showed unusual RNA isoforms, most of which contained a premature stop codon. Vitreous anomalies and retinal detachments were found more frequently in patients with a COL2A1 mutation compared with the mutation-negative group (P90% of the mutations were predicted to result in nonsense-mediated decay. On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome. 01 augustus 2010

Published
2010
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