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Article ; Online: Challenges of the Effectiveness of Traumatic Brain Injuries Biomarkers in the Sports-Related Context

Rossella Tomaiuolo / Martina Zibetti / Chiara Di Resta / Giuseppe Banfi

Journal of Clinical Medicine, Vol 12, Iss 2563, p

2023 Volume 2563

Abstract: Traumatic brain injury affects 69 million people every year. One of the main limitations in managing TBI patients is the lack of univocal diagnostic criteria, including the absence of standardized assessment methods and guidelines. Computerized axial ... ...

Abstract	Traumatic brain injury affects 69 million people every year. One of the main limitations in managing TBI patients is the lack of univocal diagnostic criteria, including the absence of standardized assessment methods and guidelines. Computerized axial tomography is the first-choice examination, despite the limited prevalence of positivity; moreover, its performance is undesirable due to the risk of radiological exposure, prolonged stay in emergency departments, inefficient use of resources, high cost, and complexity. Furthermore, immediacy and accuracy in diagnosis and management of TBIs are critically unmet medical needs. Especially in the context of sports-associated TBI, there is a strong need for prognostic indicators to help diagnose and identify at-risk subjects to avoid their returning to play while the brain is still highly vulnerable. Fluid biomarkers may emerge as new prognostic indicators to develop more accurate prediction models, improving risk stratification and clinical decision making. This review describes the current understanding of the cellular sources, temporal profile, and potential utility of leading and emerging blood-based protein biomarkers of TBI; its focus is on biomarkers that could improve the management of mild TBI cases and can be measured readily and directly in the field, as in the case of sports-related contexts.
Keywords	traumatic brain injury (TBI) ; sports-related TBI ; brain injury markers/biomarkers ; TBI biomarker ; outcome assessment ; Medicine ; R
Language	English
Publishing date	2023-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Current Updates on Expanded Carrier Screening

Iolanda Veneruso / Chiara Di Resta / Rossella Tomaiuolo / Valeria D’Argenio

Medicina, Vol 58, Iss 455, p

New Insights in the Omics Era

2022 Volume 455

Abstract: Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/ ... ...

Abstract	Genetic carrier screening has been successfully used over the last decades to identify individuals at risk of transmitting specific DNA variants to their newborns, thus having an affected child. Traditional testing has been offered based on familial and/or ethnic backgrounds. The development of high-throughput technologies, such as next-generations sequencing, able to allow the study of large genomic regions in a time and cost-affordable way, has moved carrier screening toward a more comprehensive and extensive approach, i.e., expanded carrier screening (ECS). ECS simultaneously analyses several disease-related genes and better estimates individuals’ carrier status. Indeed, it is not influenced by ethnicity and is not limited to a subset of mutations that may arise from poor information in some populations. Moreover, if couples carry out ECS before conceiving a baby, it allows them to obtain a complete estimation of their genetic risk and the possibility to make an informed decision regarding their reproductive life. Despite these advantages, some weakness still exists regarding, for example, the number of genes and the kind of diseases to be analyzed and the interpretation and communication of the obtained results. Once these points are fixed, it is expectable that ECS will become an ever more frequent practice in clinical settings.
Keywords	genetic carrier screening ; expanded carrier screening ; next generation sequencing ; recessive genetic disease ; genetic counselling ; Medicine (General) ; R5-920
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The evolving role of genetic tests in reproductive medicine

Federica Cariati / Valeria D’Argenio / Rossella Tomaiuolo

Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-

2019 Volume 33

Abstract: Abstract Infertility is considered a major public health issue, and approximately 1 out of 6 people worldwide suffer from infertility during their reproductive lifespans. Thanks to technological advances, genetic tests are becoming increasingly relevant ... ...

Abstract	Abstract Infertility is considered a major public health issue, and approximately 1 out of 6 people worldwide suffer from infertility during their reproductive lifespans. Thanks to technological advances, genetic tests are becoming increasingly relevant in reproductive medicine. More genetic tests are required to identify the cause of male and/or female infertility, identify carriers of inherited diseases and plan antenatal testing. Furthermore, genetic tests provide direction toward the most appropriate assisted reproductive techniques. Nevertheless, the use of molecular analysis in this field is still fragmented and cumbersome. The aim of this review is to highlight the conditions in which a genetic evaluation (counselling and testing) plays a role in improving the reproductive outcomes of infertile couples. We conducted a review of the literature, and starting from the observation of specific signs and symptoms, we describe the available molecular tests. To conceive a child, both partners' reproductive systems need to function in a precisely choreographed manner. Hence to treat infertility, it is key to assess both partners. Our results highlight the increasing importance of molecular testing in reproductive medicine.
Keywords	Genetic tests ; Reproductive medicine ; Male infertility ; Female infertility ; Assisted reproductive technology ; Medicine ; R
Subject code	170
Language	English
Publishing date	2019-08-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Microbiota and Human Reproduction

Rossella Tomaiuolo / Iolanda Veneruso / Federica Cariati / Valeria D’Argenio

High-Throughput, Vol 9, Iss 10, p

The Case of Male Infertility

2020 Volume 10

Abstract: The increasing interest in metagenomics is enhancing our knowledge regarding the composition and role of the microbiota in human physiology and pathology. Indeed, microbes have been reported to play a role in several diseases, including infertility. In ... ...

Abstract	The increasing interest in metagenomics is enhancing our knowledge regarding the composition and role of the microbiota in human physiology and pathology. Indeed, microbes have been reported to play a role in several diseases, including infertility. In particular, the male seminal microbiota has been suggested as an important factor able to influence couple’s health and pregnancy outcomes, as well as offspring health. Nevertheless, few studies have been carried out to date to deeper investigate semen microbiome origins and functions, and its correlations with the partner’s reproductive tract microbiome. Here, we report the state of the art regarding the male reproductive system microbiome and its alterations in infertility.
Keywords	microbiota ; human microbiome ; human reproduction ; male infertility ; semen microbiome ; Science ; Q ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Language	English
Publishing date	2020-04-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Microbiota and Human Reproduction

Rossella Tomaiuolo / Iolanda Veneruso / Federica Cariati / Valeria D’Argenio

High-Throughput, Vol 9, Iss 12, p

The Case of Female Infertility

2020 Volume 12

Abstract: During the last decade, the availability of next-generation sequencing-based approaches has revealed the presence of microbial communities in almost all the human body, including the reproductive tract. As for other body sites, this resident microbiota ... ...

Abstract	During the last decade, the availability of next-generation sequencing-based approaches has revealed the presence of microbial communities in almost all the human body, including the reproductive tract. As for other body sites, this resident microbiota has been involved in the maintenance of a healthy status. As a consequence, alterations due to internal or external factors may lead to microbial dysbiosis and to the development of pathologies. Female reproductive microbiota has also been suggested to affect infertility, and it may play a key role in the success of assisted reproductive technologies, such as embryo implantation and pregnancy care. While the vaginal microbiota is well described, the uterine microbiota is underexplored. This could be due to technical issues, as the uterus is a low biomass environment. Here, we review the state of the art regarding the role of the female reproductive system microbiota in women’s health and human reproduction, highlighting its contribution to infertility.
Keywords	microbiota ; human microbiome ; human reproduction ; female reproductive system ; female infertility ; Science ; Q ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Language	English
Publishing date	2020-05-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The Gender Impact Assessment among Healthcare Workers in the SARS-CoV-2 Vaccination—An Analysis of Serological Response and Side Effects

Chiara Di Resta / Davide Ferrari / Marco Viganò / Matteo Moro / Eleonora Sabetta / Massimo Minerva / Alberto Ambrosio / Massimo Locatelli / Rossella Tomaiuolo

Vaccines, Vol 9, Iss 522, p

2021 Volume 522

Abstract: Healthcare professionals are considered to be at high risk of exposure and spread of SARS-CoV-2, and have therefore been considered a priority group in COVID-19 vaccination campaign strategies. However, it must be assumed that the immune response is ... ...

Abstract	Healthcare professionals are considered to be at high risk of exposure and spread of SARS-CoV-2, and have therefore been considered a priority group in COVID-19 vaccination campaign strategies. However, it must be assumed that the immune response is influenced by numerous factors, including sex and gender. The analysis of these factors is an impact element for stratifying the population and targeting the vaccination strategy. Therefore, a large cohort of healthcare workers participating in the Italian vaccination campaign against SARS-CoV-2 has been studied to establish the impact of sex and gender on vaccination coverage using the Gender Impact Assessment approach. This study shows a significant difference in the antibody titers among different age and sex groups, with a clear decreasing trend in antibody titers in the older age groups. Overall, the serological values were significantly higher in females; the reported side effects are more frequent in females than in males. Therefore, disaggregated data point out how the evaluation of gender factors could be essential in COVID-19 vaccination strategies. On this biomedical and social basis, suggestions are provided to improve the SARS-CoV-2 vaccination campaign in healthcare professionals. Still, they could be adapted to other categories and contexts.
Keywords	COVID-19 ; side effects ; vaccination coverage ; gender impact assessment ; Medicine ; R
Subject code	360
Language	English
Publishing date	2021-05-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells

Federica Cariati / Francesca Borrillo / Varun Shankar / Marcella Nunziato / Valeria D’Argenio / Rossella Tomaiuolo

International Journal of Molecular Sciences, Vol 20, Iss 4, p

The Neuroblastoma Case Study

2019 Volume 893

Abstract: Tumors often show intra-tumor heterogeneity because of genotypic differences between all the cells that compose it and that derive from it. Recent studies have shown significant aspects of neuroblastoma heterogeneity that may affect the diagnostic- ... ...

Abstract	Tumors often show intra-tumor heterogeneity because of genotypic differences between all the cells that compose it and that derive from it. Recent studies have shown significant aspects of neuroblastoma heterogeneity that may affect the diagnostic-therapeutic strategy. Therefore, we developed a laboratory protocol, based on the combination of the advanced dielectrophoresis-based array technology and next-generation sequencing to identify and sort single cells individually and carry out their copy number variants analysis. The aim was to evaluate the cellular heterogeneity, avoiding overestimation or underestimation errors, due to a bulk analysis of the sample. We tested the above-mentioned protocol on two neuroblastoma cell lines, SK-N-BE(2)-C and IMR-32. The presence of several gain or loss chromosomal regions, in both cell lines, shows a high heterogeneity of the copy number variants status of the single tumor cells, even if they belong to an immortalized cell line. This finding confirms that each cell can potentially accumulate different alterations that can modulate its behavior. The laboratory protocol proposed herein provides a tool able to identify prevalent behaviors, and at the same time highlights the presence of particular clusters that deviate from them. Finally, it could be applicable to many other types of cancer.
Keywords	intra-tumor heterogeneity ; single cell isolation ; whole genome amplification ; next-generation sequencing ; copy number variations ; chromosomal pattern ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Language	English
Publishing date	2019-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Fertility-Sparing Approach in Women Affected by Stage I and Low-Grade Endometrial Carcinoma

Giuseppe Gullo / Andrea Etrusco / Gaspare Cucinella / Antonino Perino / Vito Chiantera / Antonio Simone Laganà / Rossella Tomaiuolo / Amerigo Vitagliano / Pierluigi Giampaolino / Marco Noventa / Alessandra Andrisani / Giovanni Buzzaccarini

International Journal of Molecular Sciences, Vol 22, Iss 11825, p

An Updated Overview

2021 Volume 11825

Abstract: Endometrial cancer (EC) is a deleterious condition which strongly affects a woman’s quality of life. Although aggressive interventions should be considered to treat high-grade EC, a conservative approach should be taken into consideration for women ... ...

Abstract	Endometrial cancer (EC) is a deleterious condition which strongly affects a woman’s quality of life. Although aggressive interventions should be considered to treat high-grade EC, a conservative approach should be taken into consideration for women wishing to conceive. In this scenario, we present an overview about the EC fertility-sparing approach state of art. Type I EC at low stage is the only histological type which can be addressed with a fertility-sparing approach. Moreover, no myometrium and/or adnexal invasion should be seen, and lymph-vascular space should not be involved. Regarding the pharmaceutical target, progestins, in particular medroxyprogesterone acetate (MPA) or megestrol acetate (MA), are the most employed agent in conservative treatment of early-stage EC. The metformin usage and hysteroscopic assessment is still under debate, despite promising results. Particularly strict and imperious attention should be given to the follow-up and psychological wellbeing of women, especially because of the double detrimental impairment: both EC and EC-related infertility consequences.
Keywords	endometrial cancer ; fertility sparing ; fertility preservation ; ART ; infertility ; progestin ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	300
Language	English
Publishing date	2021-10-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Antibody Titer Kinetics and SARS-CoV-2 Infections Six Months after Administration with the BNT162b2 Vaccine

Davide Ferrari / Nicola Clementi / Elena Criscuolo / Alessandro Ambrosi / Francesca Corea / Chiara Di Resta / Rossella Tomaiuolo / Nicasio Mancini / Massimo Locatelli / Mario Plebani / Giuseppe Banfi

Vaccines, Vol 9, Iss 1357, p

2021 Volume 1357

Abstract: Background: Studies reporting the long-term humoral response after receiving the BNT162b2 COVID-19 vaccine are important to drive future vaccination strategies. Yet, available literature is scarce. Covidiagnostix is a multicenter study designed to assess ...

Abstract	Background: Studies reporting the long-term humoral response after receiving the BNT162b2 COVID-19 vaccine are important to drive future vaccination strategies. Yet, available literature is scarce. Covidiagnostix is a multicenter study designed to assess the antibody response in >1000 healthcare professionals (HCPs) who received the BNT162b2 vaccine. Methods: Serum was tested at time-0 (T 0 ), before the first dose, T 1 , T 2, and T 3 , respectively, 21, 42, and 180 days after T 0 . Antibodies against the SARS-CoV-2 nucleocapsid-protein were measured to assess SARS-CoV-2 infections, whereas antibodies against the receptor-binding domain of the spike protein were measured to assess the vaccine response. Neutralization activity against the D614G, B.1.1.7, and B.1.351 variants were also analyzed. Results: Six months post-vaccination HCPs showed an antibody titer decrease of approximately 70%, yet, the titer was still one order of magnitude higher than that of seropositive individuals before vaccination. We identified 12 post-vaccination infected HCPs. None showed severe symptoms. Interestingly, most of them showed titers at T 2 above the neutralization thresholds obtained from the neutralization activity experiments. Conclusion: Vaccination induces a humoral response which is well detectable even six months post-vaccination. Vaccination prevents severe COVID-19 cases, yet post-vaccination infection is possible even in the presence of a high anti-S serum antibody titer.
Keywords	COVID-19 ; serological test ; mRNA vaccine ; Roche Anti-SARS-CoV-2-S ; immune response ; vaccination ; Medicine ; R
Subject code	570
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The Gender Gap in the Diagnostic-Therapeutic Journey of the Infertile Couple

Giuseppe Gullo / Gaspare Cucinella / Antonio Perino / Domenico Gullo / Daniela Segreto / Antonio Simone Laganà / Giovanni Buzzaccarini / Zaira Donarelli / Angelo Marino / Adolfo Allegra / Marianna Maranto / Andrea Roberto Carosso / Piernicola Garofalo / Rossella Tomaiuolo

International Journal of Environmental Research and Public Health, Vol 18, Iss 6184, p

2021 Volume 6184

Abstract: Medical procreation impairs both the biological and psychological lives of couples. However, male and female attitudes to infertility are different and require a different approach during the IVF journey. Thus, the gender impact assessment (GIA) method ... ...

Abstract	Medical procreation impairs both the biological and psychological lives of couples. However, male and female attitudes to infertility are different and require a different approach during the IVF journey. Thus, the gender impact assessment (GIA) method was used to analyse original studies present in the literature. We found some gender-related differences and, subsequently, possible outcomes of intervention to improve healthy reproduction management and prevent infertility. In particular, it became apparent that there was the need for an in-depth male infertility assessment and a gender-specific follow-up.
Keywords	assisted reproductive technology (ART) ; male infertility ; gender-oriented specific approach ; Medicine ; R
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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