The use of digital information and communication technologies (ICTs) has enabled many professionals to continue to provide their services during the COVID-19 pandemic. However, little is known about the adoption of ICTs by psychologists and the impact of such technologies on their practice. This study aimed to explore psychologists’ practices related with the use of ICTs before and during the COVID-19 lockdown, to identify the main changes that the pandemic has brought and the impact that such changes have had on their practice with clients, and also identify the factors that potentially have affected such changes. The Portuguese Psychologists Association announced the study, and 108 psychologists responded to an online survey during the mandatory lockdown. The results showed that these professionals continued to provide their services due to having adopted ICTs. Comparing with face-to-face interventions, psychologists recognized that additional precautions/knowledge were needed to use such technologies. Despite the challenges identified, they described the experience with the use of ICTs as positive, meeting clients’ adherence, and yielding positive results. Psychologists with the most years of professional experience maintained their services the most, but those with average experience showed the most favorable attitudes toward the use of technologies and web-based interventions.

Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported. Two novel damaging missense variants are described: c.1742T > A; p.I581N found in homozygosis, and c.1634T > C; p.L545P found in compound heterozygosis with p.R166*. The reported patients had predominant limb girdle weakness with symptom onset at 12, 17, 18, and 30 years of age, and the majority exhibited a good clinical response to Salbutamol therapy, but not to esterase inhibitors. Meta-analysis including previously reported variants revealed an increased likelihood of a severe, respiratory phenotype with null alleles. Missense variants exclusively affecting the kinase domain, but not the catalytic site, are associated with late onset. These data refine the phenotype associated with MuSK-related CMS.

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The allelic muscle disorders known as limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy and distal anterior compartment myopathy result from defects in dysferlin-a sarcolemma-associated protein involved in membrane repair. Mutation screening in the dysferlin gene (DYSF) enabled the identification of seven Portuguese patients presenting the variant c.5492G4A, which was observed to promote skipping of exon 49 (p.Gly1802ValfsX17). Several residually expressed products of alternative splicing also involving exons 50 and 51 were detected in the leukocytes and muscle of both patients and normal controls. Quantitative transcript analysis confirmed these results and revealed that D49/D50 transcripts were predominant in blood. Although the patients were apparently unrelated, the c.5492G4A mutation was found in linkage disequilibrium with a particularly rare haplotype in the population, corroborating the hypothesis of a common origin. Despite the presence of the same mutation on the same haplotype background, onset of the disease was heterogeneous, with either proximal or distal muscle involvement.

The near-miss effect in gambling refers to a losing situation that is (or perceived to be) close to a win by the gambler. This effect is one of the many cognitive distortions that can occur during gambling games. The main objective of the present study was to analyze the electrophysiological correlates of the near-miss effect via an event related potential (ERP) study examining four distinct gambling outcomes: win, full miss, nearmiss before the payline, and near-miss after the payline. This study comprised 23 healthy voluntary participants (10 women) with ages ranging between 19 and 34 years (M = 22.5; SD = 3.65). All participants completed the South Oaks Gambling Screen (SOGS) and played a computerized slot machine, programed to induce the near-miss effect and specifically designed for an ERP study. By splitting the near-miss effect in two subtypes (before and after the payline), increased feedback-related negativity (FRN) was found for the near-misses after the payline in comparison to losses and also to near-misses before the payline. Results also indicated an increased P300 amplitude for the near-misses before the payline compared both with losses and with near-misses after the payline. The results suggest that both FRN and P300 present different sensitivities to near-miss subtypes, suggesting a payline effect that is not demonstrated when the data of near-misses before and after the payline are analyzed together. This is the first study to analyze the effect of the near-miss subtype in an ERP study and confirms the findings of previous behavioral studies.