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11 results on '"Cutrupi, M. C."'

1. Neuroinflammation in Autism Spectrum Disorders: Role of High Mobility Group Box 1 Protein

Author

VALERIA DIPASQUALE, Cutrupi, M. C., Colavita, L., Manti, S., Cuppari, C., and Salpietro, C.

Subjects
marker, high mobility group box-1, mental disorders, Review Article, Autism spectrum disorder, high mobility group box-1, immunity, marker, neuroinflammation, Autism spectrum disorder, immunity, neuroinflammation
Abstract

The pathogenesis of autism spectrum disorder (ASD) likely involves genetic and environmental factors, impacting the complex neurodevelopmental and behavioral abnormalities of the disorder. Scientific research studies emerging within the past two decades suggest that immune dysfunction and inflammation have pathogenic influences through different mechanisms, all leading to both a chronic state of low grade inflammation, and alterations in the central nervous system and immune response, respectively. The high mobility group box-1 protein (HMGB1) is an inflammatory marker which has been shown to play a role in inducing and influencing neuroinflammation. Current evidences suggest a possible role in the multiple pathogenic mechanisms of ASD. The aim of this manuscript is to review the major hypothesis for ASD pathogenesis, with specific regards to the immunological ones, and to provide a comprehensive review of the current data about the association between HMGB1 and ASD. A systematic search has been carried out through Medline via Pubmed to identify all original articles published in English, on the basis of the following keywords: "HMGB1", "autism", "autism spectrum disorder", "neuroinflammation", and "child".

Published
2017

3. Inflammatory biomarkers and intellectual disability in patients with Down syndrome

Author

Manti, S., Cutrupi, M. C., Cuppari, C., Ferro, E., Dipasquale, V., Di Rosa, G., Chimenz, R., La Rosa, M. A., Valenti, A., and Salpietro, V.

Subjects
Inflammation, Male, Serum Amyloid A Protein, Adolescent, Down syndrome, serum amyloid A, C-reactive protein, Down syndrome, children, high mobility group box-1, intellectual quotient, serum amyloid A, C-reactive protein, children, high mobility group box-1, intellectual quotient, Cohort Studies, Italy, Child, Preschool, Intellectual Disability, Humans, Female, HMGB1 Protein, Child, Biomarkers
Abstract

Intellectual disability (ID) is part of the Down syndrome (DS) phenotypic spectrum, but the exact molecular pathophysiology of ID in individuals with DS is not yet fully understood, with many research hypotheses still unproven. Basing on previous studies (which suggested a possible role of altered inflammatory response in DS-related ID), we assessed the serum levels of a number of inflammatory biomarkers [serum amyloid A (SAA), C-reactive protein (C-RP), high mobility group box-1 (HMGB1)] in a cohort of individuals with DS and healthy controls.In total, 24 children diagnosed with DS and 12 healthy controls were enrolled, and all underwent detailed cognitive assessment. Also, serum SAA, C-RP and HMGB1 levels were measured in all recruited subjects and correlated to the severity of ID in the DS group.Serum SAA, C-RP and HMGB1 values were found to be significantly higher in the DS group compared with the healthy subjects (P = 0.001). In addition, serum HMGB1 levels positively correlated with C-RP and SAA in the DS group but not in the healthy controls. Only serum C-RP levels resulted inversely correlated (P 0.01) with intelligence quotient (IQ); conversely, significant statistical correlations between serum SAA levels and IQ (as well as between HMGB1 and IQ) have been not found (P 0.05).The levels of the determined markers were higher in DS individuals compared with (cognitively) healthy subjects, and CRP showed a negative correlation with IQ in children with DS.

Published
2018

4. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Author

Salpietro, Vincenzo, Malintan, Nancy T, Llano-Rivas, Isabel, Spaeth, Christine G, Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C, Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E, Macaya, Alfons, Kullmann, Dimitri M, Rothman, James E, Krishnakumar, Shyam S, Houlden, Henry, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D, Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G, Houlden, Henry., Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., and Krishnakumar, S. S.

Subjects
Male, Heterozygote, Adolescent, Vesicle-Associated Membrane Protein 2, neuronal exocytosi, synaptopathy, autism, synaptobrevin, Membrane Fusion, Exocytosis, R-SNARE Proteins, Protein Domains, Report, Intellectual Disability, Genetics, Humans, Autistic Disorder, Child, Genetics (clinical), Neurons, Neurotransmitter Agents, neurodevelopmental disorders, vesicle fusion, Brain, epilepsy, movement disorders, neuronal exocytosis, SNARE, VAMP2, Lipids, Magnetic Resonance Imaging, neurodevelopmental disorder, autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical), Phenotype, Child, Preschool, Mutation, Synapses, Muscle Hypotonia, Female, sense organs, movement disorder
Abstract

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.

Published
2019

6. Congenital heart disease in Down Syndrome.

Author

Gramaglia SMC, Cuppari C, Salpietro C, Ceravolo A, Cutrupi MC, Concolino D, De Sarro R, Amatruda M, Mondello P, Ceravolo G, Calabrò MP, and Gitto E

Subjects
Humans, Down Syndrome complications, Heart Defects, Congenital
Published
2020

7. Genetics and cardiovascular disease.

Author

Loddo I, Barbera F, Di Gesaro G, Cutrupi MC, Calabrò MP, Ceravolo G, Salpietro C, Gramaglia SMC, Ceravolo A, Concolino D, De Sarro R, Cuppari C, Gitto E, Clemenza F, and Di Carlo D

Subjects
Genetic Predisposition to Disease, Humans, Risk Factors, Cardiovascular Diseases genetics
Published
2020

8. Renal anomalies in newborns with vacterel association: case series and literature review.

Author

Passanisi S, D'Angelo G, Marseglia L, De Cola C, Granese R, Conti G, Betta P, Cutrupi MC, Fede C, Chimenz R, Salpietro C, and Gitto E

Subjects
Deamino Arginine Vasopressin therapeutic use, Humans, Infant, Newborn, Kidney pathology, Nocturnal Enuresis diagnosis, Nocturnal Enuresis therapy
Abstract

Nocturnal enuresis (NE) was defined by the World Health Organization (ICD-10) and the American Psychiatric Association (DSM-5) as bed-wetting in children aged >5 years. In cases of mental retardation, the developmental age may be equivalent to 5 years. In this review, we focus on the current knowledge about the etiology of enuresis and the most recent therapeutical options. Both non-pharmacological and pharmacological therapies are included, although the relative effectiveness of each remains uncertain. To date, motivational, alarm and drug therapies are the mainstay of treatment. Alarm therapy remains the first-line treatment modality for NE, while desmopressin is the most commonly used medical treatment., (Copyright 2019 Biolife Sas. www.biolifesas.org.)

Published
2019

9. Ureterocystoplasty (bladder augmentation) in a 16 year-old boy with Goldenhar syndrome.

Author

Scuderi MG, Milazzo G, Betta P, Spampinato G, Fusco M, Cutrupi MC, Chimenz R, Falsaperla M, and Di Benedetto V

Subjects
Adolescent, Humans, Male, Ureter surgery, Goldenhar Syndrome surgery, Urinary Bladder, Neurogenic surgery, Urologic Surgical Procedures
Abstract

The use of the dilated ureter for bladder augmentation is universally accepted for its lower rate of complications compared to the use of gastrointestinal segments. We report the case of a 16 yearold boy affected by Goldenhar syndrome who presented with neurogenic bladder with small-capacity, 5° grade vescico-ureteral reflux (VUR) with megaureter and bilateral hydronephrosis. Bladder augmentation using the distal dilated ureter, transuretero-ureterostomy left to right and Mitrofanoff's appendicovescicostomy were performed. Six months after surgery voiding cystourethrogram (VCUG) revealed a compliant bladder with a functional capacity of 400 ml. Ureterocystoplasty is a safe and effective method of augmenting small capacity urinary bladder. We suggest using the ureter, when available, instead of using gastrointestinal segments., (Copyright 2019 Biolife Sas. www.biolifesas.org.)

Published
2019

10. Inflammatory biomarkers and intellectual disability in patients with Down syndrome.

Author

Manti S, Cutrupi MC, Cuppari C, Ferro E, Dipasquale V, Di Rosa G, Chimenz R, La Rosa MA, Valenti A, and Salpietro V

Subjects
Adolescent, Biomarkers blood, C-Reactive Protein metabolism, Child, Child, Preschool, Cohort Studies, Down Syndrome blood, Female, HMGB1 Protein blood, Humans, Intellectual Disability blood, Italy, Male, Serum Amyloid A Protein metabolism, Down Syndrome complications, Inflammation blood, Inflammation complications, Intellectual Disability complications
Abstract

Background: Intellectual disability (ID) is part of the Down syndrome (DS) phenotypic spectrum, but the exact molecular pathophysiology of ID in individuals with DS is not yet fully understood, with many research hypotheses still unproven. Basing on previous studies (which suggested a possible role of altered inflammatory response in DS-related ID), we assessed the serum levels of a number of inflammatory biomarkers [serum amyloid A (SAA), C-reactive protein (C-RP), high mobility group box-1 (HMGB1)] in a cohort of individuals with DS and healthy controls., Methods: In total, 24 children diagnosed with DS and 12 healthy controls were enrolled, and all underwent detailed cognitive assessment. Also, serum SAA, C-RP and HMGB1 levels were measured in all recruited subjects and correlated to the severity of ID in the DS group., Results: Serum SAA, C-RP and HMGB1 values were found to be significantly higher in the DS group compared with the healthy subjects (P = 0.001). In addition, serum HMGB1 levels positively correlated with C-RP and SAA in the DS group but not in the healthy controls. Only serum C-RP levels resulted inversely correlated (P < 0.01) with intelligence quotient (IQ); conversely, significant statistical correlations between serum SAA levels and IQ (as well as between HMGB1 and IQ) have been not found (P > 0.05)., Conclusions: The levels of the determined markers were higher in DS individuals compared with (cognitively) healthy subjects, and CRP showed a negative correlation with IQ in children with DS., (© 2018 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

Published
2018
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11. Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?

Author

Procopio V, Manti S, Bianco G, Conti G, Romeo A, Maimone F, Arrigo T, Cutrupi MC, Salpietro C, and Cuppari C

Subjects
Female, Genetic Association Studies methods, Genetic Loci genetics, Genotype, Heterozygote, Homozygote, Humans, Male, Mutation genetics, Pedigree, Phenotype, Familial Mediterranean Fever genetics, Genes, Recessive genetics
Abstract

Background: Uncertainty remains on the pathogenetic mechanisms, model of inheritance as well as genotype-phenotype correlation of FMF disease., Objective: To investigate the impact of genetic factors on the FMF phenotype and the disease inheritance model., Methods: A total of 107 FMF patients were enrolled. Patients were diagnosed clinically. All patients underwent genetic analysis of the FMF locus on 16p13.3., Results: 9 distinct mutations were detected. Specifically, the 85.98% of patients showed a heterozygous genotype. The most common genotypes were p.Met680Ile/wt and p.Met694Val/wt. The most frequent clinical findings were fever, abdominal pain, joint pain, thoracic pain, and erysipelas-like erythema. Analysis of clinical data did not detect any significant difference in clinical phenotype among heterozygous, homozygous as well as compound homozygous subjects, further supporting the evidence that, contrary to the recessive autosomal inheritance, heterozygous patients fulfilled the criteria of clinical FMF. Moreover, subjects with p.Met694Val/wt and p.Met680Ile/wt genotype reported the most severe clinical phenotype. p.Ala744Ser/wt, p.Glu148Gln/Met680Ile, p.Met680Ile/Met680Ile, p.Met680Ile/Met694Val, p.Pro369Ser/wt, p.Met694Ile/wt, p.Glu148Gln/Glu148Gln, p.Lys695Arg/wt resulted in 100% pathogenicity., Conclusions: The existence of a "non classic" autosomal recessive inheritance as well as of an "atypical" dominant autosomal inheritance with incomplete penetrance and variable expressivity cannot be excluded in FMF., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Published
2018
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