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Article ; Online: Raman Microspectroscopy evidence of microplastics in human semen.

Montano, Luigi / Giorgini, Elisabetta / Notarstefano, Valentina / Notari, Tiziana / Ricciardi, Maria / Piscopo, Marina / Motta, Oriana

The Science of the total environment

2023 Volume 901, Page(s) 165922

Abstract: The presence of microplastics (MPs) in human fluids and organs is a great concern, since, as highlighted by recent studies on animal models, they could cause alterations of several physiological functions, including reproduction. In this study, semen ... ...

Abstract	The presence of microplastics (MPs) in human fluids and organs is a great concern, since, as highlighted by recent studies on animal models, they could cause alterations of several physiological functions, including reproduction. In this study, semen samples collected from men living in a polluted area of the Campania Region (Southern Italy), were analyzed to assess the presence of MPs. N. 16 pigmented microplastic fragments (ranging from 2 to 6 μm in size) with spheric or irregular shapes were found in six out of ten samples. All the detected MPs were characterized in terms of morphology (size, colour, and shape) and chemical composition by Raman Microspectroscopy. Chemical composition showed the presence of polypropylene (PP), polyethylene (PE), polyethylene terephthalate (PET), polystyrene (PS), polyvinylchloride (PVC), polycarbonate (PC), polyoxymethylene (POM) and acrylic, suggesting ingestion and/or inhalation as a route of exposure to environmental MPs. In this work, we propose for the first time a mechanism by which MPs pass into the semen most likely through the epididymis and seminal vesicles, which are the most susceptible to inflammation.
Language	English
Publishing date	2023-07-31
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	121506-1
ISSN	1879-1026 ; 0048-9697
ISSN (online)	1879-1026
ISSN	0048-9697
DOI	10.1016/j.scitotenv.2023.165922
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Article ; Online: A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.

Piscopo, Anthony / Warner, Taylor / Nagy, Jaime / Nagrale, Vidya / Stence, Aaron / Guseva, Natalya / Bernat, John A / Calhoun, Amy

American journal of medical genetics. Part A

2023 Volume 194, Issue 2, Page(s) 368–373

Abstract: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin-1 (FBN1) affecting nearly one in every 10,000 individuals. We report a 16-month-old female with early-onset MFS heterozygous for an 11.2 kb ... ...

Abstract	Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin-1 (FBN1) affecting nearly one in every 10,000 individuals. We report a 16-month-old female with early-onset MFS heterozygous for an 11.2 kb de novo duplication within the FBN1 gene. Tandem location of the duplication was further confirmed by optical genome mapping in addition to genetic sequencing and chromosomal microarray. This is the third reported case of a large multi-exon duplication in FBN1, and the only one confirmed to be in tandem. As the vast majority of pathogenic variants associated with MFS are point mutations, this expands the landscape of known FBN1 pathogenic variants and supports consistent use of genetic testing strategies that can detect large, indel-type variants.
MeSH term(s)	Humans ; Female ; Infant ; Fibrillin-1/genetics ; Mutation ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Marfan Syndrome/pathology ; Genetic Testing ; Point Mutation ; Fibrillins/genetics ; Adipokines/genetics
Chemical Substances	Fibrillin-1 ; Fibrillins ; FBN1 protein, human ; Adipokines
Language	English
Publishing date	2023-10-15
Publishing country	United States
Document type	Review ; Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63440
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Article: In Vitro

Scibetta, Sofia / Miceli, Martina / Iuliano, Marco / Stefanuto, Luca / Carbone, Elena / Piscopo, Paola / Petrozza, Vincenzo / Romeo, Giovanna / Mangino, Giorgio / Calogero, Antonella / Gasperi, Tecla / Rosa, Paolo

Life (Basel, Switzerland)

2024 Volume 14, Issue 4

Abstract: Oxidative stress represents a hallmark for many degenerative pathologies of the Central Nervous System. Throughout life, the constant pressure of noxious stimuli and/or episodes of traumatic events may expose the brain to a microenvironment where the non- ...

Abstract	Oxidative stress represents a hallmark for many degenerative pathologies of the Central Nervous System. Throughout life, the constant pressure of noxious stimuli and/or episodes of traumatic events may expose the brain to a microenvironment where the non-balanced reactive oxygen species inevitably lead to neuronal loss and cognitive decline. HO-1, a 32 kDa heat-shock protein catalyzing the degradation of heme into carbon monoxide (CO), iron and biliverdin/bilirubin is considered one of the main antioxidant defense mechanisms playing pivotal roles in neuroprotection. Restoring the redox homeostasis is the goal of many natural or synthetic antioxidant molecules pursuing beneficial effects on brain functions. Here, we investigated the antioxidant capacity of four selected benzofuran-2-one derivatives in a cellular model of neurodegeneration represented by differentiated SH-SY5Y cells exposed to catechol-induced oxidative stress. Our main results highlight how all the molecules have antioxidant properties, especially compound
Language	English
Publishing date	2024-03-22
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662250-6
ISSN	2075-1729
ISSN	2075-1729
DOI	10.3390/life14040422
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Article: Fatal sarcocystosis in psittacine birds from Argentina

Origlia, Javier / Unzaga, Florencia / Piscopo, Miguel / Moré, Gastón

Parasitology research. 2022 Jan., v. 121, no. 1

2022

Abstract: ... viruses were negative. All the samples resulted negative on the specific PCR for T. gondii. Sarcocystis ...

Abstract	Five psittacine birds, one eastern rosella (Platycercus eximius), one rose-ringed parakeet (Psittacula krameri), two eclectus parrot (Eclectus roratus), and one princess parrot (Polytelis alexandrae), all housed in a commercial aviary from La Plata, Buenos Aires, Argentina, suddenly died after a short period of dyspnea. The most significant histopathological findings for all specimens were interstitial exudative pneumonia, with marked congestion and hemorrhage, septa thickening, and massive perivascular lymphoplasmacytic infiltration. Structures compatible with protozoal schizonts were observed in the capillary lumen. No bacterial development was obtained and the real-time PCR for Chlamydia spp. and several psittacine viruses were negative. All the samples resulted negative on the specific PCR for T. gondii. Sarcocystis spp. PCR was positive in the lung and/or liver samples from all birds. The samples showed a restriction pattern of S. neurona and of S. falcatula-like by PCR–RFLP using JNB25-JD396 and JNB33-JNB54 primers, respectively. Sequences obtained from Sarcocystis sp. 18S rRNA and COI gene from 4 birds showed a high identity among them. The 18S rRNA fragment and complete gene sequences obtained showed the highest similarity with S. falcatula and S. speeri sequences but also with S. neurona SN5 isolate sequence. Likewise, COI sequences have 99.89–100% similarity with S. falcatula and S. speeri sequences. Based on all biological and molecular information recorded, we conclude that the etiological agent was S. falcatula-like, close related with the species shed by opossums in South America.
Keywords	Chlamydia ; Psittacula krameri ; aviaries ; dyspnea ; etiological agents ; genes ; hemorrhage ; histopathology ; liver ; lungs ; parasitology ; parrots ; pneumonia ; quantitative polymerase chain reaction ; research ; sarcocystosis ; schizonts ; Argentina
Language	English
Dates of publication	2022-01
Size	p. 491-497.
Publishing place	Springer Berlin Heidelberg
Document type	Article
ZDB-ID	284966-5
ISSN	1432-1955 ; 0932-0113 ; 0044-3255
ISSN (online)	1432-1955
ISSN	0932-0113 ; 0044-3255
DOI	10.1007/s00436-021-07375-6
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Article ; Online: A novel human biomonitoring study by semiconductor gas sensors in Exposomics: investigation of health risk in contaminated sites.

Longo, Valentina / Forleo, Angiola / Radogna, Antonio Vincenzo / Siciliano, Pietro / Notari, Tiziana / Pappalardo, Sebastiana / Piscopo, Marina / Montano, Luigi / Capone, Simonetta

Environmental pollution (Barking, Essex : 1987)

2022 Volume 304, Page(s) 119119

Abstract: Two areas in central-southern Italy Land of Fires in Campania and Valley of Sacco river in Lazio are known to be contaminated sites, the first due to illegal fly-tipping and toxic fires, and the second due to an intensive industrial exploitation done by ... ...

Abstract	Two areas in central-southern Italy Land of Fires in Campania and Valley of Sacco river in Lazio are known to be contaminated sites, the first due to illegal fly-tipping and toxic fires, and the second due to an intensive industrial exploitation done by no-scruple companies and crooked public administration offices with dramatic consequences for environment and resident people. The work is intended to contribute to Human BioMonitoring (HBM) studies conducted in these areas on healthy young male population by a semiconductor gas sensor array trained by SPME-GC/MS. Human semen, blood and urine were investigated. The fingerprinting of the Volatile Organic Compounds (VOCs) by a gas sensors system allowed to discriminate the different contamination of the two areas and was able to predict the chemical concentration of several VOCs identified by GC/MS.
MeSH term(s)	Biological Monitoring ; Gas Chromatography-Mass Spectrometry ; Humans ; Male ; Semiconductors ; Solid Phase Microextraction ; Volatile Organic Compounds/analysis
Chemical Substances	Volatile Organic Compounds
Language	English
Publishing date	2022-03-24
Publishing country	England
Document type	Journal Article
ZDB-ID	280652-6
ISSN	1873-6424 ; 0013-9327 ; 0269-7491
ISSN (online)	1873-6424
ISSN	0013-9327 ; 0269-7491
DOI	10.1016/j.envpol.2022.119119
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Article ; Online: Plasma Biomarker Profile and Clinical Correlations in Adult Patients With Tuberous Sclerosis Complex.

Orlando, Biagio / Morano, Alessandra / Manzini, Valeria / Cerulli Irelli, Emanuele / Borioni, Maria S / Veroni, Caterina / Salamone, Enrico Michele / D'Amelio, Chiara / Moliterni, Elisa / Giustini, Sandra / Ruffolo, Gabriele / Arisi, Ivan / D'Onofrio, Mara / Giallonardo, Anna T / Piscopo, Paola / Di Bonaventura, Carlo

Neurology

2023 Volume 101, Issue 19, Page(s) e1933–e1938

Abstract: Objectives: Different pathophysiologic mechanisms, especially involving astrocytes, could contribute to tuberous sclerosis complex (TSC). We assessed neurodegeneration and astrocytopathy plasma biomarkers in adult patients with TSC to define TSC ... ...

Abstract	Objectives: Different pathophysiologic mechanisms, especially involving astrocytes, could contribute to tuberous sclerosis complex (TSC). We assessed neurodegeneration and astrocytopathy plasma biomarkers in adult patients with TSC to define TSC biomarker profile and investigate clinical-radiologic correlations. Methods: Patients with TSC aged 15 years or older followed at Policlinico "Umberto I" of Rome were consecutively enrolled (July 2021-June 2022). The plasma levels of the following biomarkers were compared between patients and age/sex-matched healthy controls (HCs): tTau, pTau181, Abeta Results: Thirty-one patients (20 females/11 males; median age 30 years, interquartile range 24-47) and 38 HCs were enrolled. Only GFAP was significantly higher in the whole TSC population than in HCs (132.71 [86.14-231.06] vs 44.80 [32.87-66.76] pg/mL, Discussion: Our exploratory study documented a significant increase of GFAP plasma concentration in adult patients with TSC, correlated with their neurologic severity, supporting the central role of astrocytopathy in TSC pathophysiology.
MeSH term(s)	Male ; Female ; Humans ; Adult ; Autism Spectrum Disorder/genetics ; Tuberous Sclerosis/genetics ; Biomarkers ; Astrocytes ; Genotype ; Glial Fibrillary Acidic Protein/genetics
Chemical Substances	Biomarkers ; Glial Fibrillary Acidic Protein
Language	English
Publishing date	2023-08-31
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000207799
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Article ; Online: Correction: The first wave of COVID-19 in Malta; a national cross-sectional study.

Micallef, Sarah / Piscopo, Tonio V / Casha, Ramon / Borg, Denise / Vella, Chantal / Zammit, Maria-Alessandra / Borg, Janice / Mallia, Daniela / Farrugia, James / Vella, Sarah Marie / Xerri, Thelma / Portelli, Anette / Fenech, Manuel / Fsadni, Claudia / Azzopardi, Charles Mallia

PloS one

2021 Volume 16, Issue 8, Page(s) e0255881

Abstract: This corrects the article DOI: 10.1371/journal.pone.0239389.]. ...

Abstract	[This corrects the article DOI: 10.1371/journal.pone.0239389.].
Language	English
Publishing date	2021-08-03
Publishing country	United States
Document type	Published Erratum
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0255881
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Article ; Online: Effects of temperature on caffeine and carbon nanotubes co-exposure in Ruditapes philippinarum.

Piscopo, Raffaele / Coppola, Francesca / Almeida, Ângela / De Marchi, Lucia / Russo, Tania / Esteves, Valdemar I / Soares, Amadeu M V M / Pretti, Carlo / Chiellini, Federica / Polese, Gianluca / Freitas, Rosa

Chemosphere

2021 Volume 271, Page(s) 129775

Abstract: In the marine environment, organisms are exposed to a high and increasing number of different contaminants that can interact among them. In addition, abiotic factors can change the dynamics between contaminants and organisms, thus increasing or even ... ...

Abstract	In the marine environment, organisms are exposed to a high and increasing number of different contaminants that can interact among them. In addition, abiotic factors can change the dynamics between contaminants and organisms, thus increasing or even decreasing the toxic effect of a particular compound. In this study, the effects of caffeine (CAF) and functionalized multi-walled carbon nanotubes (f-MWCNTs) induced in the clam Ruditapes philippinarum were evaluated, acting alone and in combination (MIX), under two temperature levels (18 and 21 °C). To assess the impact of such compounds, their interaction and the possible influence of temperature, biochemical and histopathological markers were investigated. The effects of f-MWCNTs and caffeine appear to be clearly negative at the control temperature, with lower protein content in contaminated clams and a significant decrease in their metabolism when both pollutants were acting in combination. Also, at control temperature, clams exposed to pollutants showed increased antioxidant capacity, especially when caffeine was acting alone, although cellular damages were still observed at CAF and f-MWCNTs treatments. Increased biotransformation capacity at 18 °C and MIX treatment may explain lower caffeine concentration observed. At increased temperature differences among treatments were not so evident as at 18 °C, with a similar biological pattern among contaminated and control clams. Higher caffeine accumulation at MIX treatment under warming conditions may result from clams' inefficient biotransformation capacity when exposed to increased temperatures.
MeSH term(s)	Animals ; Bivalvia ; Caffeine/toxicity ; Nanotubes, Carbon/toxicity ; Oxidative Stress ; Temperature ; Water Pollutants, Chemical/toxicity
Chemical Substances	Nanotubes, Carbon ; Water Pollutants, Chemical ; Caffeine (3G6A5W338E)
Language	English
Publishing date	2021-01-27
Publishing country	England
Document type	Journal Article
ZDB-ID	120089-6
ISSN	1879-1298 ; 0045-6535 ; 0366-7111
ISSN (online)	1879-1298
ISSN	0045-6535 ; 0366-7111
DOI	10.1016/j.chemosphere.2021.129775
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Article ; Online: Leishmaniasis.

Piscopo, T V / Mallia, A C

Postgraduate medical journal

2006 Volume 82, Issue 972, Page(s) 649–657

Abstract: Epidemiology, disease patterns, immunology, diagnosis, treatment and control measures of leishmaniasis are described. Various issues relating to leishmaniasis are highlighted: the relative lack of importance given to this disease is compared with other ... ...

Abstract	Epidemiology, disease patterns, immunology, diagnosis, treatment and control measures of leishmaniasis are described. Various issues relating to leishmaniasis are highlighted: the relative lack of importance given to this disease is compared with other infections, climate change and its possible effect on extension of endemicity of this infection, and new diagnostic tests that are helping better diagnosis, especially in resource-poor areas. Other important aspects discussed include the potential for newer oral treatment to change the way this disease is managed; leishmania-HIV coinfection and groups at risk; and the development of an effective vaccine.
MeSH term(s)	HIV Infections/complications ; Humans ; Leishmaniasis/complications ; Leishmaniasis/diagnosis ; Leishmaniasis/therapy ; Opportunistic Infections/complications
Language	English
Publishing date	2006-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	80325-x
ISSN	1469-0756 ; 0032-5473
ISSN (online)	1469-0756
ISSN	0032-5473
DOI	10.1136/pgmj.2006.047340
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Article ; Online: Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Leone, Maria Pia / Morlino, Silvia / Nardella, Grazia / Pracella, Riccardo / Giachino, Daniela / Celli, Luca / Baldo, Demetrio / Turolla, Licia / Piccione, Maria / Salzano, Emanuela / Busè, Martina / Lastella, Patrizia / Zollino, Marcella / Cantone, Rachele / Grosso, Enrico / Zonta, Andrea / Pasini, Barbara / Piscopo, Carmelo / De Maggio, Ilaria /

Priolo, Manuela / Mammi, Corrado / Foiadelli, Thomas / Trabatti, Chiara / Savasta, Salvatore / Iolascon, Achille / Ferraris, Alessandro / Lodato, Valentina / Di Giosaffatte, Niccolò / Majore, Silvia / Selicorni, Angelo / Petracca, Antonio / Fusco, Carmela / Celli, Mauro / Guarnieri, Vito / Micale, Lucia / Castori, Marco

Human genetics

2023 Volume 142, Issue 6, Page(s) 785–808

Abstract: Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still ... ...

Abstract	Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as pathogenic and likely pathogenic null alleles without downgrading of the PVS1 level of strength and recurrent Glycine substitutions. Adaptations of selected criteria reduced uncertainties on private Glycine substitutions, intronic variants predicted to affect the splicing, and null alleles with a downgraded PVS1 level of strength. Segregation and multigene panel sequencing data mitigated uncertainties on non-Glycine substitutions by the attribution of one or more benignity criteria. These specifications may improve the clinical utility of molecular testing in HCTD by reducing the number of variants with neutral/conflicting interpretations. Close interactions between laboratory and clinicians are crucial to estimate the a priori utility of molecular test and to improve medical reports.
MeSH term(s)	Humans ; United States ; Genetic Variation ; Genetic Testing/methods ; Joint Instability/diagnosis ; Joint Instability/genetics ; Sequence Analysis, DNA/methods
Chemical Substances	Collagen Type I, alpha2 Subunit
Language	English
Publishing date	2023-04-20
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-023-02547-z
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