Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection, responsible for Coronavirus Disease 2019 (COVID-19), exhibits a spectrum of clinical manifestations, ranging from asymptomatic to severe pulmonary dysfunction or death. The variability in COVID-19 severity has largely been attributed to the host's genetic characteristics, suggesting a polygenic genetic architecture, without significant strong evidence of sex-related genetic differences. In this Italian retrospective case-control study, we investigated the association between COVID-19 severity (severe vs.

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

CDKL5 deficiency disorder (CDD) is an X-linked dominant epileptic encephalopathy, characterized by early-onset and drug-resistant seizures, psychomotor delay, and slight facial features. Genomic variants inactivating or impairing its protein product kinase activity have been reported, making next-generation sequencing (NGS) and chromosomal microarray analysis (CMA) the standard diagnostic tests. We report a suspicious case of CDD in a female child who tested negative upon NGS and CMA and harbored an X chromosome de novo pericentric inversion.

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss. Evaluating the precise breakpoint is crucial from a diagnostic point of view, highlighting possible gene disruption and addressing to appropriate genotype-phenotype association. Structural rearrangements can either occur randomly within the genome or present with a recurrence, mainly due to peculiar genomic features of the surrounding regions.

Lessons for a digital future from the school of the pandemic: From distance learning to virtual reality.

The unexpected onset of the pandemic emergency placed so-called Distance Learning (DL) at the center of the academic world, affecting students and teachers across all formative steps. The DL experience has opened up the way for many queries in terms of research on the front of education, besides showcasing instances of innovation within the schooling institution, both increasingly urgent and no longer deferrable. The collective shock that started in March of 2020 was an opportunity to incentivize a leap in evolution, heavily digital in nature, within the educational system; howbeit, the generation of digital natives were already, prior to the onset of COVID-19, waiting to sense greater openness in the Italian school system toward newer technologies, in addition to less standardized, more innovative, creative and hybrid didactic formulas.