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Article: Idiopathic Hypereosinophilia and Venous Thromboembolism: Is There a Pathophysiological or Clinical Link? Description of an Intriguing Clinical Case.

Di Micco, Pierpaolo / Scudiero, Olga / Lombardo, Barbara / Lodigiani, Corrado

2020 Volume 11, Page(s) 73–76

Abstract: Thrombosis events usually occur after prolonged bedrest, pregnancy, hormonal therapy, recent surgery and in the presence of inherited or acquired thrombophilia. However, several other diseases are often associated with thrombosis although their frequency ...

Abstract	Thrombosis events usually occur after prolonged bedrest, pregnancy, hormonal therapy, recent surgery and in the presence of inherited or acquired thrombophilia. However, several other diseases are often associated with thrombosis although their frequency is not easily estimated. Eosinophilia is one of these conditions. From a clinical viewpoint it is very difficult to understand which conditions might lead to a thrombotic event because the underlying pathophysiological mechanisms are different. Here, we report a case of idiopathic hypereosinophilia associated to venous thromboembolism without any other associated prothrombotic condition.
Language	English
Publishing date	2020-02-28
Publishing country	New Zealand
Document type	Case Reports
ZDB-ID	2587464-0
ISSN	1179-2736
ISSN	1179-2736
DOI	10.2147/JBM.S229074
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete.

Mennitti, Cristina / Miele, Ciro / Scarano, Carmela / Veneruso, Iolanda / Gentile, Alessandro / Mormile, Rosaria / Saviano, Francesca / D'Alicandro, Giovanni / Mazzaccara, Cristina / Frisso, Giulia / Capasso, Filomena / D'Argenio, Valeria / Scudiero, Olga

International journal of molecular sciences

2023 Volume 24, Issue 15

Abstract: Acute or intense exercise can result in metabolic imbalances, muscle injuries, or reveal hidden disorders. Laboratory medicine in sports is playing an increasingly crucial role in monitoring athletes' health conditions. In this study, we designed an ... ...

Abstract	Acute or intense exercise can result in metabolic imbalances, muscle injuries, or reveal hidden disorders. Laboratory medicine in sports is playing an increasingly crucial role in monitoring athletes' health conditions. In this study, we designed an integrated approach to explore the causes of a deep venous thrombosis event in an elite basketball player. Since the complete blood count revealed a marked platelet count (838 × 10
MeSH term(s)	Humans ; von Willebrand Diseases ; Basketball ; Thrombophilia/complications ; Thrombocythemia, Essential ; Venous Thrombosis/genetics ; Athletes ; von Willebrand Factor/metabolism
Chemical Substances	von Willebrand Factor
Language	English
Publishing date	2023-07-31
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms241512256
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Article: Positive effects of physical activity in autism spectrum disorder: how influences behavior, metabolic disorder and gut microbiota.

Ranieri, Annaluisa / Mennitti, Cristina / Falcone, Noemi / La Monica, Ilaria / Di Iorio, Maria Rosaria / Tripodi, Lorella / Gentile, Alessandro / Vitale, Maria / Pero, Raffaella / Pastore, Lucio / D'Argenio, Valeria / Scudiero, Olga / Lombardo, Barbara

Frontiers in psychiatry

2023 Volume 14, Page(s) 1238797

Abstract: Autism spectrum disorder is a neurodevelopmental disorder characterized by social interactions and communication skills impairments that include intellectual disabilities, communication delays and self-injurious behaviors; often are present systemic ... ...

Abstract	Autism spectrum disorder is a neurodevelopmental disorder characterized by social interactions and communication skills impairments that include intellectual disabilities, communication delays and self-injurious behaviors; often are present systemic comorbidities such as gastrointestinal disorders, obesity and cardiovascular disease. Moreover, in recent years has emerged a link between alterations in the intestinal microbiota and neurobehavioral symptoms in children with autism spectrum disorder. Recently, physical activity and exercise interventions are known to be beneficial for improving communication and social interaction and the composition of microbiota. In our review we intend to highlight how different types of sports can help to improve communication and social behaviors in children with autism and also show positive effects on gut microbiota composition.
Language	English
Publishing date	2023-10-10
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2564218-2
ISSN	1664-0640
ISSN	1664-0640
DOI	10.3389/fpsyt.2023.1238797
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Article: Visceral adipose tissue and residual cardiovascular risk: a pathological link and new therapeutic options.

Cesaro, Arturo / De Michele, Gianantonio / Fimiani, Fabio / Acerbo, Vincenzo / Scherillo, Gianmaria / Signore, Giovanni / Rotolo, Francesco Paolo / Scialla, Francesco / Raucci, Giuseppe / Panico, Domenico / Gragnano, Felice / Moscarella, Elisabetta / Scudiero, Olga / Mennitti, Cristina / Calabrò, Paolo

Frontiers in cardiovascular medicine

2023 Volume 10, Page(s) 1187735

Abstract: Obesity is a heterogeneous disease that affects almost one-third of the global population. A clear association has been established between obesity and cardiovascular disease (CVD). However, CVD risk is known to be related more to the local distribution ... ...

Abstract	Obesity is a heterogeneous disease that affects almost one-third of the global population. A clear association has been established between obesity and cardiovascular disease (CVD). However, CVD risk is known to be related more to the local distribution of fat than to total body fat. Visceral adipose tissue (VAT) in particular has a high impact on CVD risk. This manuscript reviews the role of VAT in residual CV risk and the available therapeutic strategies for decreasing residual CV risk related to VAT accumulation. Among the many pathways involved in residual CV risk, obesity and particularly VAT accumulation play a major role by generating low-grade systemic inflammation, which in turn has a high prognostic impact on all-cause mortality and myocardial infarction. In recent years, many therapeutic approaches have been developed to reduce body weight. Orlistat was shown to reduce both weight and VAT but has low tolerability and many drug-drug interactions. Naltrexone-bupropion combination lowers body weight but has frequent side effects and is contraindicated in patients with uncontrolled hypertension. Liraglutide and semaglutide, glucagon-like peptide 1 (GLP-1) agonists, are the latest drugs approved for the treatment of obesity, and both have been shown to induce significant body weight loss. Liraglutide, semaglutide and other GLP-1 agonists also showed a positive effect on CV outcomes in diabetic patients. In addition, liraglutide showed to specifically reduce VAT and inflammatory biomarkers in obese patients without diabetes. GLP-1 agonists are promising compounds to limit inflammation in human visceral adipocytes.
Language	English
Publishing date	2023-07-27
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2781496-8
ISSN	2297-055X
ISSN	2297-055X
DOI	10.3389/fcvm.2023.1187735
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Article ; Online: Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta, Ferdinando / Uomo, Fabiana / Caldora, Filomena / Mocerino, Rossella / Adamo, Daniela / Testa, Francesco / Simonelli, Francesca / Scudiero, Olga / Tinto, Nadia / Frisso, Giulia / Mazzaccara, Cristina

Genes

2023 Volume 14, Issue 5

Abstract: Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with ... ...

Abstract	Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the simultaneous identification of genetic variants both in whole mtDNA and in nuclear genes included in a clinic exome panel. Furthermore, the MITO-NUCLEAR assay, implemented in our diagnostic process, has allowed us to arrive at a molecular diagnosis in a young patient. Methods: Massive sequencing strategy was applied for the validation experiments, performed using multiple tissues (blood, buccal swab, fresh tissue, tissue from slide, and formalin-fixed paraffin-embedded tissue section) and two different blend-in ratios of the mitochondrial probes: nuclear probes; 1:900 and 1:300. Results: Data suggested that 1:300 was the optimal probe dilution, where 100% of the mtDNA was covered at least 3000×, the median coverage was >5000×, and 93.84% of nuclear regions were covered at least 100×. Conclusions: Our custom Agilent SureSelect MITO-NUCLEAR panel provides a potential "one-step" investigation that may be applied to both research and genetic diagnosis of MDs, allowing the simultaneous discovery of nuclear and mitochondrial mutations.
MeSH term(s)	Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mitochondria/genetics ; DNA, Mitochondrial/genetics ; Mutation ; High-Throughput Nucleotide Sequencing/methods
Chemical Substances	DNA, Mitochondrial
Language	English
Publishing date	2023-05-15
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14051087
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Article ; Online: Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

Genes (Basel). 2023 May 15, v. 14, no. 5

2023

Abstract	Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the simultaneous identification of genetic variants both in whole mtDNA and in nuclear genes included in a clinic exome panel. Furthermore, the MITO-NUCLEAR assay, implemented in our diagnostic process, has allowed us to arrive at a molecular diagnosis in a young patient. Methods: Massive sequencing strategy was applied for the validation experiments, performed using multiple tissues (blood, buccal swab, fresh tissue, tissue from slide, and formalin-fixed paraffin-embedded tissue section) and two different blend-in ratios of the mitochondrial probes: nuclear probes; 1:900 and 1:300. Results: Data suggested that 1:300 was the optimal probe dilution, where 100% of the mtDNA was covered at least 3000×, the median coverage was >5000×, and 93.84% of nuclear regions were covered at least 100×. Conclusions: Our custom Agilent SureSelect MITO-NUCLEAR panel provides a potential “one-step” investigation that may be applied to both research and genetic diagnosis of MDs, allowing the simultaneous discovery of nuclear and mitochondrial mutations.
Keywords	blood ; mitochondria ; mitochondrial genome ; patients
Language	English
Dates of publication	2023-0515
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14051087
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Evaluation of Antioxidant Defence Systems and Inflammatory Status in Basketball Elite Athletes.

Gentile, Alessandro / Punziano, Carolina / Calvanese, Mariella / De Falco, Renato / Gentile, Luca / D'Alicandro, Giovanni / Miele, Ciro / Capasso, Filomena / Pero, Raffaela / Mazzaccara, Cristina / Lombardo, Barbara / Frisso, Giulia / Borrelli, Paola / Mennitti, Cristina / Scudiero, Olga / Faraonio, Raffaella

Genes

2023 Volume 14, Issue 10

Abstract: Intense physical activity can induce metabolic changes that modify specific biochemical biomarkers. In this scenario, the purpose of our study was to evaluate how intense physical activity can affect oxidative metabolism. Following this, fifteen ... ...

Abstract	Intense physical activity can induce metabolic changes that modify specific biochemical biomarkers. In this scenario, the purpose of our study was to evaluate how intense physical activity can affect oxidative metabolism. Following this, fifteen professional basketball players and fifteen sedentary controls were recruited and subjected to two samplings of serum and urine in the pre-season (September) and two months after the start of the competitive season (November). Our results have shown an increase in athletes compared to controls in CK and LDH in September (respectively,
MeSH term(s)	Humans ; Antioxidants/metabolism ; Basketball ; Athletes ; Exercise ; Kidney/metabolism
Chemical Substances	Antioxidants
Language	English
Publishing date	2023-09-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14101891
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Article ; Online: A Novel View of Human

Pero, Raffaela / Brancaccio, Mariarita / Laneri, Sonia / Biasi, Margherita-Gabriella De / Lombardo, Barbara / Scudiero, Olga

Biomolecules

2019 Volume 9, Issue 6

Abstract: The gut microbiota is significantly involved in the preservation of the immune system of the host, protecting it against the pathogenic bacteria of the stomach. The correlation between gut microbiota and the host response supports human gastric ... ...

Abstract	The gut microbiota is significantly involved in the preservation of the immune system of the host, protecting it against the pathogenic bacteria of the stomach. The correlation between gut microbiota and the host response supports human gastric homeostasis. Gut microbes may be shifted in
MeSH term(s)	Gastrointestinal Microbiome ; Helicobacter Infections/metabolism ; Helicobacter Infections/microbiology ; Helicobacter pylori/physiology ; Humans ; Microbiota ; beta-Defensins/metabolism
Chemical Substances	beta-Defensins
Language	English
Publishing date	2019-06-18
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2701262-1
ISSN	2218-273X ; 2218-273X
ISSN (online)	2218-273X
ISSN	2218-273X
DOI	10.3390/biom9060237
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Article: Antimicrobial Peptides and Physical Activity: A Great Hope against COVID 19.

Laneri, Sonia / Brancaccio, Mariarita / Mennitti, Cristina / De Biasi, Margherita G / Pero, Maria Elena / Pisanelli, Giuseppe / Scudiero, Olga / Pero, Raffaela

Microorganisms

2021 Volume 9, Issue 7

Abstract: Antimicrobial peptides (AMPs), α- and β-defensins, possess antiviral properties. These AMPs achieve viral inhibition through different mechanisms of action. For example, they can: (i) bind directly to virions; (ii) bind to and modulate host cell-surface ... ...

Abstract	Antimicrobial peptides (AMPs), α- and β-defensins, possess antiviral properties. These AMPs achieve viral inhibition through different mechanisms of action. For example, they can: (i) bind directly to virions; (ii) bind to and modulate host cell-surface receptors, disrupting intracellular signaling; (iii) function as chemokines to augment and alter adaptive immune responses. Given their antiviral properties and the fact that the development of an effective coronavirus disease 2019 (COVID-19) treatment is an urgent public health priority, they and their derivatives are being explored as potential therapies against COVID-19. These explorations using various strategies, range from their direct interaction with the virus to using them as vaccine adjuvants. However, AMPs do not work in isolation, specifically in their role as potent immune modulators, where they interact with toll-like receptors (TLRs) and chemokine receptors. Both of these receptors have been shown to play roles in COVID-19 pathogenesis. In addition, it is known that a healthy lifestyle accompanied by controlled physical activity can represent a natural weapon against COVID-19. In competitive athletes, an increase in serum defensins has been shown to function as self-protection from the attack of microorganisms, consequently a controlled physical activity could act as a support to any therapies in fighting COVID-19. Therefore, including information on all these players' interactions would produce a complete picture of AMP-based therapies' response.
Language	English
Publishing date	2021-06-30
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2720891-6
ISSN	2076-2607
ISSN	2076-2607
DOI	10.3390/microorganisms9071415
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Article ; Online: Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara, Cristina / Mirra, Bruno / Barretta, Ferdinando / Caiazza, Martina / Lombardo, Barbara / Scudiero, Olga / Tinto, Nadia / Limongelli, Giuseppe / Frisso, Giulia

International journal of molecular sciences

2021 Volume 22, Issue 11

Abstract: Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, ... ...

Abstract	Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, laboratory, and neuroimaging investigations. Currently, the molecular screening for MCM is fundamental part of MDs management and allows achieving the definitive diagnosis. In this article, we review the current genetic knowledge associated with MDs, focusing on diagnosis of MCM and MDs showing cardiac involvement. We searched for publications on mitochondrial and nuclear genes involved in MCM, mainly focusing on genetic screening based on targeted gene panels for the molecular diagnosis of the MCM, by using Next Generation Sequencing. Here we report twelve case reports, four case-control studies, eleven retrospective studies, and two prospective studies, for a total of twenty-nine papers concerning the evaluation of cardiac manifestations in mitochondrial diseases. From the analysis of published causal mutations, we identified 130 genes to be associated with mitochondrial heart diseases. A large proportion of these genes (34.3%) encode for key proteins involved in the oxidative phosphorylation system (OXPHOS), either as directly OXPHOS subunits (22.8%), and as OXPHOS assembly factors (11.5%). Mutations in several mitochondrial tRNA genes have been also reported in multi-organ or isolated MCM (15.3%). This review highlights the main disease-genes, identified by extensive genetic analysis, which could be included as target genes in next generation panels for the molecular diagnosis of patients with clinical suspect of mitochondrial cardiomyopathies.
MeSH term(s)	Alleles ; Cardiomyopathies/diagnosis ; Cardiomyopathies/epidemiology ; Cardiomyopathies/etiology ; Disease Susceptibility ; Genes, Mitochondrial ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Mitochondria/genetics ; Mitochondria/metabolism ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/epidemiology ; Mitochondrial Diseases/etiology ; Molecular Epidemiology ; Mutation ; Organ Specificity ; Phenotype
Language	English
Publishing date	2021-05-27
Publishing country	Switzerland
Document type	Journal Article ; Meta-Analysis ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22115742
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