It has been suggested that some individuals may present genetic susceptibility to SARS‐CoV‐2 infection, with particular research interest in variants of the ACE2 and TMPRSS2 genes, involved in viral penetration into cells, in different populations and geographic regions, although insufficient information is currently available. This study addresses the apparently reasonable hypothesis that variants of these genes may modulate viral infectivity, making some individuals more vulnerable than others. Through whole‐exome sequencing, the frequency of exonic variants of the ACE2, TMPRSS2 , and Furin genes was analyzed in relation to presence or absence of SARS‐CoV‐2 infection in a familial multiple sclerosis cohort including 120 individuals from Madrid. The ACE2 gene showed a low level of polymorphism, and none variant was significantly associated with SARS‐CoV‐2 infection. These variants have previously been detected in Italy. While TMPRSS2 is highly polymorphic, the variants found do not coincide with those described in other studies, with the exception of rs75603675, which may be associated with SARS‐CoV‐2 infection. The synonymous variants rs61735792 and rs61735794 showed a significant association with infection. Despite the limited number of patients with SARS‐CoV‐2 infection, some variants, especially in TMPRSS2 , may be associated with COVID‐19.

Bilateral testicular torsion is a very uncommon emergency, with a challenging differential diagnosis. We describe the case of a 15-year-old patient with a left testicular torsion of 48 hours of duration and a sudden onset of right scrotum pain during his stay at the emergency area. Bilateral testicular torsion was diagnosed after repeat physical examination and doppler ultrasound, which had been normal for right testis in a first evaluation. Surgical exploration was performed with orchiectomy in left testis and fixation in right testis. In previous literature, there are reported bilateral torsion only in four adolescents and five adults. With this case, we demonstrate that bilateral spermatic cord torsion may be easily overlooked in a patient with acute scrotum and we emphasize the importance of bilateral exploration in testicular torsion.

Background Neuropsychological assessment is considered a valid tool in the diagnosis of neurodegenerative disorders. However, there is an important overlap in cognitive profiles between Alzheimer's disease (AD) and behavioural variant frontotemporal dementia (bvFTD), and the usefulness in diagnosis is uncertain. We aimed to develop machine learning‐based models for the diagnosis using cognitive tests. Methods Three hundred and twenty‐nine participants (170 AD, 72 bvFTD, 87 healthy control [HC]) were enrolled. Evolutionary algorithms, inspired by the process of natural selection, were applied for both mono‐objective and multi‐objective classification and feature selection. Classical algorithms (NativeBayes, Support Vector Machines, among others) were also used, and a meta‐model strategy. Results Accuracies for the diagnosis of AD, bvFTD and the differential diagnosis between them were higher than 84%. Algorithms were able to significantly reduce the number of tests and scores needed. Free and Cued Selective Reminding Test, verbal fluency and Addenbrooke's Cognitive Examination were amongst the most meaningful tests. Conclusions Our study found high levels of accuracy for diagnosis using exclusively neuropsychological tests, which supports the usefulness of cognitive assessment in diagnosis. Machine learning may have a role in improving the interpretation and test selection.

No abstract