Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Purpose: Uniparental disomy (UPD) is a genetic condition which both copies of a chromosome are inherited from a single parent, potentially leading to imprinting disorders. This study aimed to assess the integration of Short Tandem Repeat (STR) analysis into Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) to assess UPD risk and its impact on selecting euploid embryos for embryo transfer in couples with chromosomal translocations involving imprinted chromosomes.

Methods: This study evaluated three couples carrying balanced chromosomal translocations: 45,XX,der(13;14)(q10;q10), 46,XX,t(10;11)(q22;q13), and 45,XY,der(14;15)(q10;q10).

Trimodal brain imaging: A novel approach for simultaneous investigation of human brain function.

While advancements have improved the extent to which individual brain imaging approaches capture information regarding spatial or temporal dynamics of brain activity, the connections between these aspects and their relation to psychological functioning remain only partially understood. Acquisition and integration across multiple brain imaging modalities allows for the possible clarification of these connections. The present review provides an overview of three complementary modalities - functional magnetic resonance imaging (fMRI), electroencephalography/event-related potentials (EEG/ERP), and event-related optical signals (EROS) - and discusses progress and considerations for each modality, along with a summary of a novel protocol for acquiring them simultaneously.

A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.

Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis.

Compound Heterozygous Variants in the Gene Associated with Skeletal Ciliopathies.

Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome.

Sex differences in response to COVID-19 mRNA vaccines in Italian population.

Since the beginning of mass vaccination campaign for COVID-19 in Italy (December 2020) and following the rapidly increasing vaccine administration, sex differences have been emphasized. Nevertheless, incomplete and frequently incoherent sex-disaggregated data for COVID-19 vaccinations are currently available, and vaccines clinical studies generally do not include sex-specific analyses for safety and efficacy. We looked at sex variations in the COVID-19 vaccine's effectiveness against infection and severe disease outcomes.

Monovalent XBB.1.5 COVID-19 vaccine effectiveness against hospitalisations and deaths during the Omicron BA.2.86/JN.1 period among older adults in seven European countries: A VEBIS-EHR network study.

Background: We aimed to estimate XBB.1.5 vaccine effectiveness (VE) against COVID-19-related hospitalizations and deaths during BA.

Case-time series study on the short-term impact of meteorological factors on West Nile Virus incidence in Italy at the local administrative unit level, 2012 to 2021.

Introduction: West Nile Virus (WNV) is a significant public health concern in southern Europe, with meteorological, climatic, and environmental factors playing a critical role in its transmission dynamics. This study aims to assess the short-term effects of meteorological variables on the incidence of WNV in five Italian regions in Northern Italy from 2012 to 2021.

Methods: Linking epidemiological data from the national surveillance system and local meteorological data, we conducted a Case-Time Series analysis to examine the association between WNV incident cases and temperature, humidity, and precipitation recorded up to ten weeks before case occurrence at the local administrative unit level.

Caregiving burden, social support, and psychological well-being among family caregivers of older Italians: a cross-sectional study.

Objectives: This study aimed to identify factors affecting the psychological well-being of family caregivers of dependent older adults in Italy. Understanding these variables is essential for designing interventions to prevent negative outcomes in at-risk caregivers. The research explored how varying levels of caregiving burden and types of perceived social support influence psychological well-being.

Vascular Surgery Education and Training in the American Continent: Current Status and Future Directions.

Background: Despite the increasing burden of cardiovascular diseases (CVDs), there is a shortage of vascular surgeons worldwide, with a higher scarcity in low- and middle-income countries. The objective of the present study was to report the current status of vascular surgery education and training on the American continent.

Methods: Official government, postgraduate medical schools, and medical associations' websites were searched for data regarding vascular surgery training positions, programs, and pathways available in the 35 countries of the American continent.

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic Variants in an Italian Cohort.

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results in 40-60% of HCM cases, owing to, among other causes, technical limitations such as the inability to detect pathogenic intronic variants.

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity and mortality and are often driven by genetic factors. Recent advances in next-generation sequencing (NGS) technology have enabled the identification of rare variants in both well-established and minor genes associated with CMPs. Nowadays, a set of core genes is included in diagnostic panels for ACM, DCM, and HCM.

Impact of the 2023/24 autumn-winter COVID-19 seasonal booster campaign in preventing severe COVID-19 cases in Italy (October 2023-March 2024).

We assessed the impact of the 2023/2024 COVID-19 vaccination campaign in Italy by estimating the number of averted COVID-19 severe cases (i.e. COVID-19 associated hospitalisations or deaths) between October 2023 and March 2024, in those aged ≥60 years.

Increasing situational awareness through nowcasting of the reproduction number.

Background: The time-varying reproduction number R is a critical variable for situational awareness during infectious disease outbreaks; however, delays between infection and reporting of cases hinder its accurate estimation in real-time. A number of nowcasting methods, leveraging available information on data consolidation delays, have been proposed to mitigate this problem.

Methods: In this work, we retrospectively validate the use of a nowcasting algorithm during 18 months of the COVID-19 pandemic in Italy by quantitatively assessing its performance against standard methods for the estimation of R.

Neurovascular mechanisms of cognitive aging: Sex-related differences in the average progression of arteriosclerosis, white matter atrophy, and cognitive decline.

Arterial stiffness (arteriosclerosis) has been linked to heightened risks for cognitive decline, and ultimately for Alzheimer's disease and other forms of dementia. Importantly, neurovascular outcomes generally vary according to one's biological sex. Here, capitalizing on a large sample of participants with neuroimaging and behavioral data (N = 203, age range = 18-87 years), we aimed to provide support for a hierarchical model of neurocognitive aging, which links age-related declines in cerebrovascular health to the rate of cognitive decline via a series of intervening variables, such as white matter integrity.

Effects of Aging, Fitness, and Cerebrovascular Status on White Matter Microstructural Health.

White matter (WM) microstructural health declines with increasing age, with evidence suggesting that improved cardiorespiratory fitness (CRF) may mitigate this decline. Specifically, higher fit older adults tend to show preserved WM microstructural integrity compared to their lower fit counterparts. However, the extent to which fitness and aging impact WM integrity across the adult lifespan is still an open question, as is the extent to which cerebrovascular health mediates these relationships.

Single-Trial Detection and Classification of Event-Related Optical Signals for a Brain-Computer Interface Application.

Event-related optical signals (EROS) measure fast modulations in the brain's optical properties related to neuronal activity. EROS offer a high spatial and temporal resolution and can be used for brain-computer interface (BCI) applications. However, the ability to classify single-trial EROS remains unexplored.

Effects of reducing sedentary behaviour by increasing physical activity, on cognitive function, brain function and structure across the lifespan: a systematic review and meta-analysis.

Objective: To examine the acute and chronic effects of reducing prolonged sedentary time (ST) with physical activity (PA) on cognitive and brain health.

Design: Systematic review and meta-analysis.

Data Sources: PubMed, Scopus, CINAHL, PsycINFO, SPORTDiscus, Web of Science, and ProQuest Dissertation and Theses.

Two thiosemicarbazones derived from 1-indanone as potent non-nucleoside inhibitors of bovine viral diarrhea virus of different genotypes and biotypes.

Bovine viral diarrhea virus (BVDV) is a widespread pathogen of cattle and other mammals that causes major economic losses in the livestock industry. N4-TSC and 6NO-TSC are two thiosemicarbazones derived from 1-indanone that exhibit anti-BVDV activity in vitro. These compounds selectively inhibit BVDV and are effective against both cytopathic and non-cytopathic BVDV-1 and BVDV-2 strains.

Survey-Based Assessment of the Quality of Reporting Guidelines of Carotid Artery Stenosis.

Background: No evaluation of the quality of different carotid guidelines using validated scales has been performed to date. The present study aims to analyze 3 carotid stenosis guidelines, apprizing their quality and reporting using validated tools.

Methods: A survey-based assessment of the quality of the European Society for Vascular Surgery (ESVS) 2023, European Stroke Organisation (ESO) 2021, and the Society for Vascular Surgery (SVS) 2021 carotid stenosis guidelines, was performed by 43 vascular surgeons, cardiologists, neurologist or interventional radiologists using 2 validated appraisal tools for quality and reporting guidelines, the AGREE II instrument and the RIGHT statement.

Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.

Background: The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype. DSD incidence is reported as 2 in 10,000 births, and the etiology has been attributed to genetic causes. .

Risk of breakthrough infection and hospitalisation after COVID-19 primary vaccination by HIV status in four Italian regions during 2021.

Background: As of 2024, vaccination remains the main mitigation measure against COVID-19, but there are contradictory results on whether people living with HIV (PLWH) are less protected by vaccines than people living without HIV (PLWoH). In this study we compared the risk of SARS-CoV-2 infection and COVID-19 hospitalisation following full vaccination in PLWH and PLWoH.

Methods: We linked data from the vaccination registry, the COVID-19 surveillance system and from healthcare/pharmacological registries in four Italian regions.

The impact of underreported infections on vaccine effectiveness estimates derived from retrospective cohort studies.

Background: Surveillance data and vaccination registries are widely used to provide real-time vaccine effectiveness (VE) estimates, which can be biased due to underreported (i.e. under-ascertained and under-notified) infections.

Effectiveness against severe COVID-19 of a seasonal booster dose of bivalent (original/Omicron BA.4-5) mRNA vaccines in persons aged ≥60 years: Estimates over calendar time and by time since administration during prevalent circulation of different Omicron subvariants, Italy, 2022-2023.

Evaluating how a COVID-19 seasonal vaccination program performed might help to plan future campaigns. This study aims to estimate the relative effectiveness (rVE) against severe COVID-19 of a seasonal booster dose over calendar time and by time since administration. We conducted a retrospective cohort analysis among 13,083,855 persons aged ≥60 years who were eligible to receive a seasonal booster at the start of the 2022-2023 vaccination campaign in Italy.