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Article ; Online: Letter to the Editor:

Margiotti, Katia / Fabiani, Marco / Mesoraca, Alvaro / Giorlandino, Claudio

2022 Volume 35, Issue 4, Page(s) 345–346

MeSH term(s)	Asymptomatic Infections ; COVID-19/diagnosis ; Humans ; SARS-CoV-2
Language	English
Publishing date	2022-05-17
Publishing country	United States
Document type	Letter
ZDB-ID	639075-4
ISSN	1557-8976 ; 0882-8245
ISSN (online)	1557-8976
ISSN	0882-8245
DOI	10.1089/vim.2022.0009
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Zs.A 2227: Show issues

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Article ; Online: Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.

Margiotti, Katia / Fabiani, Marco / Cima, Antonella / Libotte, Francesco / Mesoraca, Alvaro / Giorlandino, Claudio

Current issues in molecular biology

2024 Volume 46, Issue 4, Page(s) 3209–3217

Abstract: Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2-3% of live births and 20% of spontaneous miscarriages. ...

Abstract	Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2-3% of live births and 20% of spontaneous miscarriages. This study aims to identify the genetic cause of ultrasound anomalies through clinical exome sequencing (CES) analysis. The focus is on utilizing CES analysis in a trio setting, involving the fetuses and both parents. To achieve this objective, prenatal trio clinical exome sequencing was conducted in 51 fetuseses exhibiting ultrasound anomalies with previously negative results from chromosomal microarray (CMA) analysis. The study revealed pathogenic variants in 24% of the analyzed cases (12 out of 51). It is worth noting that the findings include de novo variants in 50% of cases and the transmission of causative variants from asymptomatic parents in 50% of cases. Trio clinical exome sequencing stands out as a crucial tool in advancing prenatal diagnostics, surpassing the effectiveness of relying solely on chromosomal microarray analysis. This underscores its potential to become a routine diagnostic standard in prenatal care, particularly for cases involving ultrasound anomalies.
Language	English
Publishing date	2024-04-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2000024-8
ISSN	1467-3045 ; 1467-3037
ISSN (online)	1467-3045
ISSN	1467-3037
DOI	10.3390/cimb46040201
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Zs.A 5122: Show issues

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Article ; Online: Survey of fully vaccinated anti-COVID 19 people from June to November 2021: Single Italian center study.

Margiotti, Katia / Fabiani, Marco / Mesoraca, Alvaro / Giorlandino, Claudio

Journal of medical virology

2022 Volume 94, Issue 7, Page(s) 2919–2920

MeSH term(s)	COVID-19/prevention & control ; Humans ; Italy/epidemiology ; SARS-CoV-2 ; Surveys and Questionnaires
Language	English
Publishing date	2022-03-08
Publishing country	United States
Document type	Letter
ZDB-ID	752392-0
ISSN	1096-9071 ; 0146-6615
ISSN (online)	1096-9071
ISSN	0146-6615
DOI	10.1002/jmv.27690
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Zs.A 1320: Show issues

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Article ; Online: EPIGENETIC CLOCKS: IN AGING-RELATED AND COMPLEX DISEASES.

Margiotti, Katia / Monaco, Francesca / Fabiani, Marco / Mesoraca, Alvaro / Giorlandino, Claudio

Cytogenetic and genome research

2023

Abstract: There is evidence that complex disease and mortality are associated with DNA methylation (DNAm) and age acceleration. Numerous epigenetic clocks, including Horvath, Hannum, DNA PhenoAge, DNA GrimAge, and DunedinPoAm continue to be developed in this young ...

Abstract	There is evidence that complex disease and mortality are associated with DNA methylation (DNAm) and age acceleration. Numerous epigenetic clocks, including Horvath, Hannum, DNA PhenoAge, DNA GrimAge, and DunedinPoAm continue to be developed in this young scientific field. The most well-known epigenetic clocks are presented here, along with information about how they relate to chronic disease. We examined all the literature until January 2023, investigating associations between measures of age acceleration and complex and age-related diseases. We focused on the scientific literature and researches that are most strongly associated with epigenetic clocks and that have shown promise as biomarkers for obesity, cardiovascular illness, type 2 diabetes, and neurodegenerative disease. Understanding the complex interactions between accelerated epigenetic clocks and chronic diseases may have significant effects on both the early diagnosis of disease and health promotion. Additionally, there is a lot of interest in developing treatment plans that can delay the onset of illnesses or, at the very least, alter the underlying causes of such disorders.
Language	English
Publishing date	2023-10-28
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000534561
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Zs.A 512: Show issues

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Article: Natural immune response and protection from SARS-CoV-2 reinfection.

Margiotti, Katia / Fabiani, Marco / Mesoraca, Alvaro / Giorlandino, Claudio

Acta virologica

2021 Volume 65, Issue 4, Page(s) 333–338

Abstract: The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the associated disease Coronavirus disease 2019 (COVID-19) continues to spread throughout the world, causing millions of infections and dead. One major question in predicting the ... ...

Abstract	The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the associated disease Coronavirus disease 2019 (COVID-19) continues to spread throughout the world, causing millions of infections and dead. One major question in predicting the course of the COVID-19 pandemic is how well and how long the immune response protects the host from reinfection. Although more studies are needed, evidence suggests that virus-specific B cell response in people with SARS-CoV-2 infection is rapidly generated and seems to be more reliable marker of long-lasting humoral responses than serum antibodies. Here we reviewed all related major studies of immune response to SARS-CoV-2 virus to better understand the natural protection against the virus, and the risk of reinfection. The ability of our community to eradicate this virus will mostly depend on our knowledge of the immune response, critical not only for vaccine development and distribution but also for therapeutic options. Keywords: SARS-CoV-2 virus reinfection; humoral immune response; SARS-CoV-2 virus variants; vaccination.
MeSH term(s)	COVID-19 ; Humans ; Immunity, Humoral ; Pandemics ; Reinfection ; SARS-CoV-2 ; Vaccine Development
Language	English
Publishing date	2021-11-18
Publishing country	Slovakia
Document type	Journal Article ; Review
ZDB-ID	210452-0
ISSN	1336-2305 ; 0001-723X
ISSN (online)	1336-2305
ISSN	0001-723X
DOI	10.4149/av_2021_401
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Zs.A 336: Show issues

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Article ; Online: Dynamics of SARS-CoV-2-Specific B Cell Memory Responses in Infected and Vaccinated Individuals.

Fabiani, Marco / Margiotti, Katia / Monaco, Francesca / Viola, Antonella / Cima, Antonella / Mesoraca, Alvaro / Giorlandino, Claudio

Viral immunology

2023 Volume 36, Issue 5, Page(s) 343–350

Abstract: Coronavirus disease 2019 (COVID-19), caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), rapidly resulted in a pandemic constituting a global health emergency. As an indicator of long-term immune protection from reinfection ... ...

Abstract	Coronavirus disease 2019 (COVID-19), caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), rapidly resulted in a pandemic constituting a global health emergency. As an indicator of long-term immune protection from reinfection with the SARS-CoV-2 virus, the presence of memory B cells (MBCs) should be evaluated. Since the beginning of COVID-19 pandemic, several variants of concerns have been detected, including Alpha (B.1.1.7), Beta (B.1.351), Gamma (P.1/B.1.1.28.1), Delta (B.1.617.2), and Omicron (BA.1) variants with several different mutations, causing serious concern regarding the increased frequency of reinfection, and limiting the effectiveness of the vaccine response. At this regard, we investigated SARS-CoV-2-specific cellular immune responses in four different cohorts: COVID-19, COVID-19 infected and vaccinated, vaccinated, and negative subjects. We found that MBC response to SARS-CoV-2 at more than 11 months postinfection was higher in the peripheral blood of all COVID-19 infected and vaccinated subjects respect to all the other groups. Moreover, to better characterize the differences of SARS-CoV-2 variants immune responses, we genotyped SARS-CoV-2-positive samples from the patients' cohort. We found a higher level of immunoglobulin M+ (IgM+) and IgG+ spike MBCs in SARS-CoV-2-positive patients (5-8 months after symptoms onset) infected with the SARS-CoV-2-Delta variant compared with the SARS-CoV-2-Omicron variant implying a higher immune memory response. Our findings showed that MBCs persist more than 11 months after primary infection indicating a different involvement of the immune system according to the different SARS-CoV-2 variant that infected the host.
MeSH term(s)	Humans ; SARS-CoV-2/genetics ; COVID-19 ; Memory B Cells ; Pandemics ; Reinfection ; Spike Glycoprotein, Coronavirus/genetics ; Antibodies, Viral
Chemical Substances	Spike Glycoprotein, Coronavirus ; Antibodies, Viral ; spike protein, SARS-CoV-2
Language	English
Publishing date	2023-05-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	639075-4
ISSN	1557-8976 ; 0882-8245
ISSN (online)	1557-8976
ISSN	0882-8245
DOI	10.1089/vim.2022.0197
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Zs.A 2227: Show issues

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Article: Mild Symptomatic SARS-CoV-2 P.1 (B.1.1.28) Infection in a Fully Vaccinated 83-Year-Old Man.

Fabiani, Marco / Margiotti, Katia / Viola, Antonella / Mesoraca, Alvaro / Giorlandino, Claudio

Pathogens (Basel, Switzerland)

2021 Volume 10, Issue 5

Abstract: The novel severe acute respiratory syndrome coronavirus (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) continue to spread throughout the world, causing more than 120 million infections. Several variants of concern (VOCs) have emerged ...

Abstract	The novel severe acute respiratory syndrome coronavirus (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) continue to spread throughout the world, causing more than 120 million infections. Several variants of concern (VOCs) have emerged and spread with implications for vaccine efficacy, therapeutic antibody treatments, and possible reinfections. On 17 March 2021, several VOCs were detected, including lineage B.1.1.7, first identified in the UK, B.1.351 in South Africa, Lineage P.1 (B.1.1.28.1) in Brazil, and novel Sub-Lineage A (A.23.1), reported in Uganda, and B.1.525, reported in Nigeria. Here, we describe an 83-year-old man infected with the SARS-CoV-2 P.1 variant after two doses of the BNT162b2 mRNA COVID-19 vaccine.
Language	English
Publishing date	2021-05-17
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2695572-6
ISSN	2076-0817
ISSN	2076-0817
DOI	10.3390/pathogens10050614
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Article ; Online: De novo

Libotte, Francesco / Fabiani, Marco / Margiotti, Katia / Carpineto, Lorena Sonia / Monaco, Francesca / Raffio, Raffaella / Mesoraca, Alvaro / Giorlandino, Claudio

Experimental and therapeutic medicine

2023 Volume 25, Issue 2, Page(s) 100

Abstract: Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of ... ...

Abstract	Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of clinical manifestations. Terminal 12p deletion represents one of the rarest subtelomeric imbalances; patients with distal monosomy 12p present different phenotypes ranging from muscular hypotonia to autism spectrum disorders. The present study reported a prenatal diagnosis of a male fetus presenting ultrasound evidence of corpus callosum dysplasia and ventriculomegaly showing a 3q13q21.2 deletion and a 12p13.33 microdeletion paternally inherited. Among several features previously attributed to the terminal deletion of 3q, corpus callosum dysplasia and ventriculomegaly have rarely been reported together. As the 12p13.33 microdeletion in the father was associated only with muscular hypotonia and joint laxity, the involvement of terminal 12p deletions in the clinical features of the fetus was not possible to verify during the prenatal period. The present case report may provide a reference for prenatal diagnosis and genetic counseling in patients who present 3q13q21.2 deletions and 12p13.33 microdeletion.
Language	English
Publishing date	2023-01-16
Publishing country	Greece
Document type	Case Reports
ZDB-ID	2683844-8
ISSN	1792-1015 ; 1792-0981
ISSN (online)	1792-1015
ISSN	1792-0981
DOI	10.3892/etm.2023.11799
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Article: A Rapid and Consistent Method to Identify Four SARS-CoV-2 Variants during the First Half of 2021 by RT-PCR.

Fabiani, Marco / Margiotti, Katia / Sabatino, Manuela / Viola, Antonella / Mesoraca, Alvaro / Giorlandino, Claudio

Vaccines

2022 Volume 10, Issue 3

Abstract: Since 2020, the COVID-19 pandemic has spread worldwide, causing health, economic, and social distress. Containment strategies rely on rapid and consistent methodology for molecular detection and characterization. Emerging variants of concern (VOCs) are ... ...

Abstract	Since 2020, the COVID-19 pandemic has spread worldwide, causing health, economic, and social distress. Containment strategies rely on rapid and consistent methodology for molecular detection and characterization. Emerging variants of concern (VOCs) are currently associated with increased infectivity and immune escape (natural defence mechanisms and vaccine). Several VOCs have been detected, including Alpha variant (B.1.1.7), Beta variant (B.1.351), Gamma variant (P.1/B.1.1.28.1) and Delta variant (B.1.617.2), first identified in the UK, South Africa, Brazil and India, respectively. Here, a rapid and low-cost technique was validated to distinguish the Alpha, Beta, Gamma, and Delta SARS-CoV-2 variants by detecting spike gene mutations using a real-time reverse transcription polymerase chain reaction methodology (RT-PCR). A total of 132 positive patients affected by coronavirus disease-19 (COVID-19) were analysed by employing RT-PCR to target single-nucleotide polymorphisms (SNPs) to screen spike protein mutations. All data were validated by the next-generation sequencing (NGS) methodology and using sequences from a public database. Among 132 COVID-19-positive samples, we were able to discriminate all of the investigated SARS-CoV-2 variants with 100% concordance when compared with the NGS method. RT-PCR -based assays for identifying circulating VOCs of SARS-CoV-2 resulted in a rapid method used to identify specific SARS-CoV-2 variants, allowing for a better survey of the spread of the virus and its transmissibility in the pandemic phase.
Language	English
Publishing date	2022-03-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2703319-3
ISSN	2076-393X
ISSN	2076-393X
DOI	10.3390/vaccines10030483
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Article ; Online: Quantification of circulating microRNAs by droplet digital PCR for cancer detection.

Cirillo, Priscila D R / Margiotti, Katia / Mesoraca, Alvaro / Giorlandino, Claudio

BMC research notes

2020 Volume 13, Issue 1, Page(s) 351

Abstract: Objective: Circulating cell-free microRNAs (miRNAs) which consist of short-sequence RNAs are released from cells into the blood stream and has emerged as new biomarkers in the clinical cancer diagnosis and treatment. For instance, ovarian cancer ... ...

Abstract	Objective: Circulating cell-free microRNAs (miRNAs) which consist of short-sequence RNAs are released from cells into the blood stream and has emerged as new biomarkers in the clinical cancer diagnosis and treatment. For instance, ovarian cancer comprises one of the three major malignant tumor types in the female reproductive system. The mortality rate of this cancer is the highest among all gynecological tumors, with ovarian cancer metastasis constituting an important cause of death. Therefore, development of a diagnostic tool that enables the ovarian cancer diagnosis in earlier stages is urgent. Results: We have described an efficient protocol for an accurate absolute quantification of circulating miRNAs in healthy and ovarian cancer serum samples. Our data showed that ddPCR methodology can accurately measure circulating miRNAs levels and that can be a useful tool in biomarkers discovery for ovarian cancer detection.
MeSH term(s)	Biomarkers, Tumor/genetics ; Circulating MicroRNA/genetics ; Female ; Humans ; MicroRNAs/genetics ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics ; Polymerase Chain Reaction
Chemical Substances	Biomarkers, Tumor ; Circulating MicroRNA ; MicroRNAs
Language	English
Publishing date	2020-07-23
Publishing country	England
Document type	Journal Article
ZDB-ID	2413336-X
ISSN	1756-0500 ; 1756-0500
ISSN (online)	1756-0500
ISSN	1756-0500
DOI	10.1186/s13104-020-05190-3
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