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  1. Article: Beneficial Effects of Palmitoylethanolamide on Expressive Language, Cognition, and Behaviors in Autism: A Report of Two Cases.

    Antonucci, Nicola / Cirillo, Alessandra / Siniscalco, Dario

    Case reports in psychiatry

    2015  Volume 2015, Page(s) 325061

    Abstract: Introduction. Autism spectrum disorders are defined by behavioral and language atypias. Growing body of evidence indicates inflammatory mediators may contribute to the condition. Palmitoylethanolamide (PEA) is naturally occurring and has been available ... ...

    Abstract Introduction. Autism spectrum disorders are defined by behavioral and language atypias. Growing body of evidence indicates inflammatory mediators may contribute to the condition. Palmitoylethanolamide (PEA) is naturally occurring and has been available as a nonprescription medical food supplement in Europe since 2008. PEA has been tested in thousands of human subjects without any noted significant side effects. Here we report the first cases of the administration of PEA to two children with autism. Case Presentations. The first 13-year-old male child (Subject 1) presented with a total IgE of 572 IU/mL (nl < 200) and with low mature CD57(+) natural killer cell counts (32 cells/µL; nl = 60-300 cells/µL) and with significant eczema and allergic stigmata. Expressive language, as measured by mean length of utterance, and overall autism severity as measured by the Childhood Autism Rating Scale, Second Edition, improved significantly. Atopic symptoms diminished. No side effects were reported. The second male child, age 15 (Subject 2), also displayed noticeable and rapid improvements in cognitive, behaviors, and sociability. Conclusion. Currently, there is no definitive treatment for autism condition. Palmitoylethanolamide could be an effective treatment for autism syndrome. We propose appropriate double-blind clinical trials to further explore palmitoylethanolamide efficacy and safety.
    Language English
    Publishing date 2015-09-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2629914-8
    ISSN 2090-6838 ; 2090-682X
    ISSN (online) 2090-6838
    ISSN 2090-682X
    DOI 10.1155/2015/325061
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.

    Viggiano, Emanuela / Picillo, Esther / Ergoli, Manuela / Cirillo, Alessandra / Del Gaudio, Stefania / Politano, Luisa

    The journal of gene medicine

    2017  Volume 19, Issue 4

    Abstract: Background: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting approximately 1: 18.000 male births. Female carriers are usually asymptomatic, although 2.5-18% may present muscle or heart symptoms. In the present study, the role ... ...

    Abstract Background: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting approximately 1: 18.000 male births. Female carriers are usually asymptomatic, although 2.5-18% may present muscle or heart symptoms. In the present study, the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy (DMD) carriers.
    Methods: XCI was determined on the lymphocytes of 36 BMD carriers (both symptomatic and not symptomatic) from 11 families requiring genetic advice at the Cardiomyology and Medical Genetics of the Second University of Naples, using the AR methylation-based assay. Carriers were subdivided into two groups, according to age above or below 50 years. Seven females from the same families known as noncarriers were used as controls. A Student's t-test for nonpaired data was performed to evaluate the differences observed in the XCI values between asymptomatic and symptomatic carriers, and carriers aged above or below 50 years. A Pearson correlation test was used to evaluate the inheritance of the XCI pattern in 19 mother-daughter pairs.
    Results: The results showed that symptomatic BMD carriers had a skewed XCI with a preferential inactivation of the X chromosome carrying the normal allele, whereas the asymptomatic carriers and controls showed a random XCI. No concordance concerning the XCI pattern was observed between mothers and related daughters.
    Conclusions: The data obtained in the present study suggest that the onset of symptoms in BMD carriers is related to a skewed XCI, as observed in DMD carriers. Furthermore, they showed no concordance in the XCI pattern inheritance.
    Language English
    Publishing date 2017-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 1458024-x
    ISSN 1521-2254 ; 1099-498X
    ISSN (online) 1521-2254
    ISSN 1099-498X
    DOI 10.1002/jgm.2952
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  3. Article ; Online: The in vitro GcMAF effects on endocannabinoid system transcriptionomics, receptor formation, and cell activity of autism-derived macrophages.

    Siniscalco, Dario / Bradstreet, James Jeffrey / Cirillo, Alessandra / Antonucci, Nicola

    Journal of neuroinflammation

    2014  Volume 11, Page(s) 78

    Abstract: Background: Immune system dysregulation is well-recognized in autism and thought to be part of the etiology of this disorder. The endocannabinoid system is a key regulator of the immune system via the cannabinoid receptor type 2 (CB2R) which is highly ... ...

    Abstract Background: Immune system dysregulation is well-recognized in autism and thought to be part of the etiology of this disorder. The endocannabinoid system is a key regulator of the immune system via the cannabinoid receptor type 2 (CB2R) which is highly expressed on macrophages and microglial cells. We have previously published significant differences in peripheral blood mononuclear cell CB2R gene expression in the autism population. The use of the Gc protein-derived Macrophage Activating Factor (GcMAF), an endogenous glycosylated vitamin D binding protein responsible for macrophage cell activation has demonstrated positive effects in the treatment of autistic children. In this current study, we investigated the in vitro effects of GcMAF treatment on the endocannabinoid system gene expression, as well as cellular activation in blood monocyte-derived macrophages (BMDMs) from autistic patients compared to age-matched healthy developing controls.
    Methods: To achieve these goals, we used biomolecular, biochemical and immunocytochemical methods.
    Results: GcMAF treatment was able to normalize the observed differences in dysregulated gene expression of the endocannabinoid system of the autism group. GcMAF also down-regulated the over-activation of BMDMs from autistic children.
    Conclusions: This study presents the first observations of GcMAF effects on the transcriptionomics of the endocannabinoid system and expression of CB2R protein. These data point to a potential nexus between endocannabinoids, vitamin D and its transporter proteins, and the immune dysregulations observed with autism.
    MeSH term(s) Amidohydrolases/genetics ; Amidohydrolases/metabolism ; Autistic Disorder/pathology ; Case-Control Studies ; Child ; Child, Preschool ; Endocannabinoids/genetics ; Endocannabinoids/metabolism ; Female ; Gene Expression Regulation/drug effects ; Humans ; Leukocytes, Mononuclear/metabolism ; Leukocytes, Mononuclear/pathology ; Macrophage-Activating Factors/pharmacology ; Macrophages/drug effects ; Male ; Phospholipase D/genetics ; Phospholipase D/metabolism ; RNA, Messenger/metabolism ; Receptor, Cannabinoid, CB2/genetics ; Receptor, Cannabinoid, CB2/metabolism ; Signal Transduction/drug effects ; Vitamin D-Binding Protein/pharmacology
    Chemical Substances Endocannabinoids ; Macrophage-Activating Factors ; RNA, Messenger ; Receptor, Cannabinoid, CB2 ; Vitamin D-Binding Protein ; vitamin D-binding protein-macrophage activating factor ; Phospholipase D (EC 3.1.4.4) ; NAPEPLD protein, human (EC 3.1.4.4.) ; Amidohydrolases (EC 3.5.-) ; fatty-acid amide hydrolase (EC 3.5.1.-)
    Language English
    Publishing date 2014-04-17
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1742-2094
    ISSN (online) 1742-2094
    DOI 10.1186/1742-2094-11-78
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Population neuroscience: challenges and opportunities for psychiatric research in low- and middle-income countries.

    Cirillo, Alessandra / Diniz, Elton / Gadelha, Ary / Asevedo, Elson / Axelrud, Luiza K / Miguel, Eurípedes C / Rohde, Luis Augusto / Bressan, Rodrigo A / Pan, Pedro / Mari, Jair de J

    Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999)

    2020  Volume 42, Issue 4, Page(s) 442–448

    Abstract: Objective: Population neuroscience is an emerging field that combines epidemiology and neuroscience to study how genes and the environment shape typical and atypical brain functioning. The objective of this study was to review key studies on population ... ...

    Abstract Objective: Population neuroscience is an emerging field that combines epidemiology and neuroscience to study how genes and the environment shape typical and atypical brain functioning. The objective of this study was to review key studies on population neuroscience from low- and middle-income countries (LMICs) and to identify potential gaps vis-à-vis studies conducted in high-income countries.
    Methods: We conducted a systematic review to search for longitudinal cohort studies investigating the development of psychiatric disorders in children and adolescents in LMICs. We performed an electronic search in the EMBASE and MEDLINE databases from inception to July 5th, 2019.
    Results: We found six cohorts from four countries that met our search criteria: three cohorts from Brazil, one from China, one from South Africa, and one from Mauritius. Relevant examples of findings from these studies are reported.
    Conclusion: Our results demonstrate the impact of the valuable science output these cohort designs promote, allowing LMICs to have a share in frontline global psychiatry research. National and international funding agencies should invest in LMIC population neuroscience in order to promote replication and generalization of research from high-income countries.
    MeSH term(s) Biomedical Research ; Developing Countries ; Humans ; Neurosciences
    Language English
    Publishing date 2020-04-03
    Publishing country Brazil
    Document type Journal Article ; Systematic Review
    ISSN 1809-452X
    ISSN (online) 1809-452X
    DOI 10.1590/1516-4446-2019-0761
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Epigenetic findings in autism: new perspectives for therapy.

    Siniscalco, Dario / Cirillo, Alessandra / Bradstreet, James Jeffrey / Antonucci, Nicola

    International journal of environmental research and public health

    2013  Volume 10, Issue 9, Page(s) 4261–4273

    Abstract: Autism and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, communications, restricted interests, and repetitive stereotypic behaviors. Despite extensive genetic and ... ...

    Abstract Autism and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, communications, restricted interests, and repetitive stereotypic behaviors. Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. However, accumulating evidence points to the involvement of epigenetic modifications as foundational in creating ASD pathophysiology. Epigenetic modifications or the alteration of DNA transcription via variations in DNA methylation and histone modifications but without alterations in the DNA sequence, affect gene regulation. These alterations in gene expression, obtained through DNA methylation and/or histone modifications, result from transcriptional regulatory influences of environmental factors, such as nutritional deficiencies, various toxicants, immunological effects, and pharmaceuticals. As such these effects are epigenetic regulators which determine the final biochemistry and physiology of the individual. In contrast to psychopharmacological interventions, bettering our understanding of how these gene-environmental interactions create autistic symptoms should facilitate the development of therapeutic targeting of gene expression for ASD biomedical care.
    MeSH term(s) Animals ; Child Development Disorders, Pervasive/genetics ; Child Development Disorders, Pervasive/therapy ; Environment ; Epigenesis, Genetic ; Histones/metabolism ; Humans
    Chemical Substances Histones
    Language English
    Publishing date 2013-09-11
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2175195-X
    ISSN 1660-4601 ; 1661-7827
    ISSN (online) 1660-4601
    ISSN 1661-7827
    DOI 10.3390/ijerph10094261
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  6. Article ; Online: Decreased Numbers of CD57+CD3- Cells Identify Potential Innate Immune Differences in Patients with Autism Spectrum Disorder.

    Siniscalco, Dario / Mijatovic, Tatjana / Bosmans, Eugene / Cirillo, Alessandra / Kruzliak, Peter / Lombardi, Vincent C / De Meirleir, Kenny / Antonucci, Nicola

    In vivo (Athens, Greece)

    2016  Volume 30, Issue 2, Page(s) 83–89

    Abstract: Background/aim: Autism spectrum disorders (ASD) are complex, and severe heterogeneous neurodevelopmental pathologies with accepted but complex immune system abnormalities. Additional knowledge regarding potential immune dysfunctions may provide a ... ...

    Abstract Background/aim: Autism spectrum disorders (ASD) are complex, and severe heterogeneous neurodevelopmental pathologies with accepted but complex immune system abnormalities. Additional knowledge regarding potential immune dysfunctions may provide a greater understanding of this malady. The aim of this study was to evaluate the CD57(+)CD3(-) mature lymphocyte subpopulation of natural killer cells as a marker of immune dysfunction in ASD.
    Materials and methods: Three-color flow cytometry-based analysis of fresh peripheral blood samples from children with autism was utilized to measure CD57(+)CD3(-) lymphocytes.
    Results: A reduction of CD57(+)CD3(-) lymphocyte count was recorded in a significant number of patients with autism.
    Discussion and conclusion: We demonstrated that the number of peripheral CD57(+)CD3(-) cells in children with autism often falls below the clinically accepted normal range. This implies that a defect in the counter-regulatory functions necessary for balancing pro-inflammatory cytokines exists, thus opening the way to chronic inflammatory conditions associated with ASD.
    MeSH term(s) Adolescent ; Adult ; Autism Spectrum Disorder/immunology ; Autism Spectrum Disorder/metabolism ; Biomarkers ; CD3 Complex/metabolism ; CD57 Antigens/metabolism ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Immunity, Innate ; Immunophenotyping ; Lymphocyte Count ; Lymphocyte Subsets/immunology ; Lymphocyte Subsets/metabolism ; Male ; Young Adult
    Chemical Substances Biomarkers ; CD3 Complex ; CD57 Antigens
    Language English
    Publishing date 2016-03
    Publishing country Greece
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 807031-3
    ISSN 1791-7549 ; 0258-851X
    ISSN (online) 1791-7549
    ISSN 0258-851X
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  7. Article: A new SCAR marker potentially useful to distinguish Italian cattle breeds

    Cirillo, Alessandra / Gaudio, Stefania Del / Bernardo, Giovanni Di / Galano, Giovanni / Galderisi, Umberto / Cipollaro, Marilena

    Food chemistry. 2012 Jan. 1, v. 130, no. 1

    2012  

    Abstract: In recent years, the safeguarding of Italian native cattle breeds has increased the recovery of these breeds and the promotion of their products by enhancing the application of useful methods to trace the origin of meat products. The random amplified ... ...

    Abstract In recent years, the safeguarding of Italian native cattle breeds has increased the recovery of these breeds and the promotion of their products by enhancing the application of useful methods to trace the origin of meat products. The random amplified polymorphic DNA sequence (RAPD–PCR) followed by characterised amplified region (SCAR) marker approach could be considered an advantageous method to ensure food quality and origin, and represents a further opportunity to recover Italian autochthonous cattle breeds. Here, we report the results of RAPD–PCR using 42 primers and the development of two informative SCAR markers. Ten different clones for each cultivar-specific RAPD fragment were sequenced and database searches of sequence similarity were performed. The method enabled the detection of low amounts of DNA and, because of the relatively short dimension of the amplicon, it was suitable for the analysis of potentially degraded DNA obtained from processed commercial food that contained meat as an ingredient.
    Keywords DNA ; cattle breeds ; clones ; databases ; food quality ; ingredients ; meat ; nucleotide sequences ; random amplified polymorphic DNA technique ; sequence homology
    Language English
    Dates of publication 2012-0101
    Size p. 172-176.
    Publishing place Elsevier Ltd
    Document type Article
    ZDB-ID 243123-3
    ISSN 1873-7072 ; 0308-8146
    ISSN (online) 1873-7072
    ISSN 0308-8146
    DOI 10.1016/j.foodchem.2011.06.043
    Database NAL-Catalogue (AGRICOLA)

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  8. Article ; Online: Autism spectrum disorders: is mesenchymal stem cell personalized therapy the future?

    Siniscalco, Dario / Sapone, Anna / Cirillo, Alessandra / Giordano, Catia / Maione, Sabatino / Antonucci, Nicola

    Journal of biomedicine & biotechnology

    2012  Volume 2012, Page(s) 480289

    Abstract: Autism and autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders. They are enigmatic conditions that have their origins in the interaction of genes and environmental factors. ASDs are characterized by dysfunctions in social ... ...

    Abstract Autism and autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders. They are enigmatic conditions that have their origins in the interaction of genes and environmental factors. ASDs are characterized by dysfunctions in social interaction and communication skills, in addition to repetitive and stereotypic verbal and nonverbal behaviours. Immune dysfunction has been confirmed with autistic children. There are no defined mechanisms of pathogenesis or curative therapy presently available. Indeed, ASDs are still untreatable. Available treatments for autism can be divided into behavioural, nutritional, and medical approaches, although no defined standard approach exists. Nowadays, stem cell therapy represents the great promise for the future of molecular medicine. Among the stem cell population, mesenchymal stem cells (MSCs) show probably best potential good results in medical research. Due to the particular immune and neural dysregulation observed in ASDs, mesenchymal stem cell transplantation could offer a unique tool to provide better resolution for this disease.
    MeSH term(s) Child ; Child Development Disorders, Pervasive/surgery ; Humans ; Mesenchymal Stem Cell Transplantation/methods ; Precision Medicine/methods
    Language English
    Publishing date 2012-02-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2052552-7
    ISSN 1110-7251 ; 1110-7243
    ISSN (online) 1110-7251
    ISSN 1110-7243
    DOI 10.1155/2012/480289
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Molecular characterization of Italian rice cultivars

    Cirillo, Alessandra / Del Gaudio, Stefania / Di Bernardo, Giovanni / Galderisi, Umberto / Cascino, Antonino / Cipollaro, Marilena

    Zeitschrift für Lebensmittel-Untersuchung und -Forschung. A, European food research and technology. 2009 Apr., v. 228, no. 6

    2009  

    Abstract: Random amplified polymorphic DNA (RAPD) is an efficient tool to detect DNA polymorphisms and to distinguish different clones and cultivars. We have applied the RAPD technique to distinguish, starting from a single rice seed, among some Italian rice ... ...

    Abstract Random amplified polymorphic DNA (RAPD) is an efficient tool to detect DNA polymorphisms and to distinguish different clones and cultivars. We have applied the RAPD technique to distinguish, starting from a single rice seed, among some Italian rice cultivars from market and from National Institute for research on food and nutrition, Italy. We also estimated the genomic similarity among the rice cultivars object of this study taking advantage of the amplification patterns. Despite the low genomic variability among Italian rice cultivars, RAPD technique allowed us to distinguish among them. This indicates that RAPD can be used routinely to verify the identity of Italian rice cultivars in order to prevent fraudulent commercial activity.
    Keywords DNA ; clones ; cultivars ; markets ; nutrition research ; random amplified polymorphic DNA technique ; rice ; seeds ; Italy
    Language English
    Dates of publication 2009-04
    Size p. 875-881.
    Publisher Springer-Verlag
    Publishing place Berlin/Heidelberg
    Document type Article
    ZDB-ID 1359456-4
    ISSN 1431-4630 ; 1438-2377
    ISSN 1431-4630 ; 1438-2377
    DOI 10.1007/s00217-008-1000-1
    Database NAL-Catalogue (AGRICOLA)

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  10. Article ; Online: Preamplification procedure for the analysis of ancient DNA samples.

    Del Gaudio, Stefania / Cirillo, Alessandra / Di Bernardo, Giovanni / Galderisi, Umberto / Thanassoulas, Theodoros / Pitsios, Theodoros / Cipollaro, Marilena

    TheScientificWorldJournal

    2013  Volume 2013, Page(s) 734676

    Abstract: In ancient DNA studies the low amount of endogenous DNA represents a limiting factor that often hampers the result achievement. In this study we extracted the DNA from nine human skeletal remains of different ages found in the Byzantine cemetery of ... ...

    Abstract In ancient DNA studies the low amount of endogenous DNA represents a limiting factor that often hampers the result achievement. In this study we extracted the DNA from nine human skeletal remains of different ages found in the Byzantine cemetery of Abdera Halkidiki and in the medieval cemetery of St. Spiridion in Rhodes (Greece). Real-time quantitative polymerase chain reaction (qPCR) was used to detect in the extracts the presence of PCR inhibitors and to estimate the DNA content. As mitochondrial DNA was detected in all samples, amplification of nuclear targets, as amelogenin and the polymorphism M470V of the transmembrane conductance regulator gene, yielded positive results in one case only. In an effort to improve amplification success, we applied, for the first time in ancient DNA, a preamplification strategy based on TaqMan PreAmp Master Mix. A comparison between results obtained from nonpreamplified and preamplified samples is reported. Our data, even if preliminary, show that the TaqMan PreAmp procedure may improve the sensitivity of qPCR analysis.
    MeSH term(s) Anthropology, Physical/methods ; Base Sequence ; DNA/genetics ; DNA Fingerprinting/methods ; Forensic Genetics/methods ; Greece ; Molecular Sequence Data ; Real-Time Polymerase Chain Reaction/methods ; Sequence Analysis, DNA/methods ; Specimen Handling/methods
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2013-09-25
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2075968-X
    ISSN 1537-744X ; 1537-744X
    ISSN (online) 1537-744X
    ISSN 1537-744X
    DOI 10.1155/2013/734676
    Database MEDical Literature Analysis and Retrieval System OnLINE

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