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Anthropogenic pressures on the environment are increasingly evident, characterized by uncontrolled changes in land use that adversely affect water quality. This study aims to assess how land use and land cover contribute to water quality and to evaluate the influence of spatial landscape metrics on water quality variability in eight tributary sub-basins of the Paraopeba River. The analysis considers two seasonal periods reflective of the region's tropical climate. The dataset includes spatial data on land use and land cover, digital elevation models, soil types, geology, geomorphology, spatial-temporal data, and landscape fragmentation metrics. First, spatial differences in water quality data collected at each sampling site were tested, and the significance of seasonal variations was assessed. Correlation analyses were then conducted to determine the relationships between landscape metrics and water quality parameters across the eight sub-basins, considering both seasonal periods. Key findings include the identification of mixed pollution sources, such as pasture, urban areas, and mining, which significantly affect water quality, particularly during the rainy period. Conversely, forest plantations were found to be the land use category that most positively contributed to the preservation of water quality. The relationships between landscape patterns and water quality, analyzed using redundancy analysis, revealed that the influence of landscape metrics on the variation of water quality parameters was significantly more pronounced during the dry period, explaining 75 % of the variation, compared to 49 % during the rainy period.

ABSTRACT Introduction: CrossFit® is a physical training method that aims to promote physical fitness through the development of components such as aerobic capacity, strength and muscular endurance. Data regarding bruxism behaviors in CrossFit® practitioners are scarce, but previous studies have shown increased dental clenching behavior during weightlifting practices. Objective: The present study aimed to evaluate clinical signs of bruxism in CrossFit® practitioners. Methods: The sample comprised a convenience sample of CrossFit® practitioners (n=57), of both genders, aged 19-58 years. Outcome variables were as follows: Oral Behavior Checklist, the International Physical Activity Questionnaire and the Standardized Tool for the Assessment of Bruxism. Data were expressed in terms of absolute values and percentages. Spearman’s correlation and Fisher exact tests were used for statistical analysis, and a significance level of 5% was considered. Results: The mean age was 32.82 years, with a female majority (63.15%). CrossFit® practitioners frequently reported clenching their teeth during training practice (61.40%) and presented linea alba (82.45%), lip impression (54.38%), tongue impression (26.31%), bone exostosis (19.29%), tooth wear (61.40%) and non-carious cervical lesions (35.09%). Conclusions: No correlation was found between clinical signs of bruxism, oral behaviors and physical activity intensity; however, the results suggest that individuals who practice CrossFit® training have oral behaviors that can cause morpho-functional changes in the stomatognathic system, especially the habit of clenching their teeth during training. In addition, data emphasize the need for dental health education among CrossFit® practitioners, and more studies with a representative sample are necessary.

O artigo objetiva problematizar a avaliação externa na educação brasileira, e de modo particular, o Sistema Permanente de Avaliação da Educação Básica do Ceará-Spaece. Dessa forma, o estudo pontua o contexto político em que essa política de controle chegou ao Brasil. Além disso, este trabalho discorre sobre o processo histórico da implementação do Spaece no estado do Ceará e sobre os objetivos prescritos nas diretrizes do Spaece-alfa. Ao identificar as características do sistema avaliativo do ensino básico do Ceará, nesta redação, pondera-se na perspectiva crítica as implicações desse exame externo na prática educativa para a reflexão sobre os contornos desse instrumento avaliativo expresso no cotidiano escolar. A pesquisa busca questionar a intencionalidade desta avaliação em termos de melhoria para a educação, uma vez que compromete a relação professor/aluno e a construção do conhecimento mecanizando a prática pedagógica para alcançar metas.

As prevalências de doenças crônicas não transmissíveis vêm crescendo na população, incluindo em profissionais da saúde, portanto, avaliou-se a ocorrência de rigidez arterial (RA) elevada segundo atividade física no lazer (AFL) através de estudo transversal realizado com agentes comunitárias de saúde (ACS) do sexo feminino de Vitória, Espírito Santo. A AFL foi avaliada pela versão longa do International Physical Activity Questionnaire e a RA foi mensurada pela Velocidade de Onda de Pulso carotídeo-femoral (VOPc-f ). As participantes foram consideradas ativas quando praticavam pelo menos 150 minutos/semana de AFL moderada ou 150 minutos/semana da soma da AFL moderada e vigorosa ou 75 minutos/semana de AFL vigorosa. Para a classificação da RA elevada foi utilizado o ponto de corte que considera valor de VOPc-f ≥ ao percentil 90 estratificado por sexo e faixa etária para população saudável. Foram executados testes estatísticos para comparação de proporções e médias. Um valor de p

The deposits of mine tailings can be a source of groundwater contamination by metals. In this study, we simulated the concentrations of iron, manganese and aluminum in groundwater potentially affected by drainage from tailings deposits located in Brumadinho (Brazil). The aim was to verify whether the concentrations observed in the region can be attributed to these drainages. The simulation used the FREEWAT graphical interface, which incorporates the MODFLOW model, the hydraulic properties of existing unconfined and confined aquifers, the spatial distribution of the tailings’ deposits, and the dissolved iron concentrations measured in drilled wells. The simulation period was 20 years, starting in 2019 after the collapse of B1 tailings dam of Córrego do Feijão mine of Vale, S.A. The modeling results revealed plumes of metal contamination progressively less dispersed over time, in the unconfined aquifer, and increased metal concentrations in the confined aquifer. The simulated concentrations in both aquifers were generally lower than the legal limits imposed for human consumption, although some areas in the vicinity of the deposits had iron and manganese concentrations higher than those limits, especially in the unconfined aquifer, and these areas widened over time. The most relevant result was the revelation that the contribution of tailings drainage to the iron concentrations observed in the drilled wells might have not exceeded 1%. This is important from a management standpoint, because monitoring of anthropogenic groundwater contamination in these cases (where rock weathering dominates groundwater chemistry) becomes more challenging.

The Soil and Water Assessment Tool (SWAT) was used to assess total phosphorus concentrations (TOT-P) and fluxes (TOT_P) in the Paraopeba River basin, located in the state of Minas Gerais, Brazil, following the collapse of tailings dam B1 in Brumadinho. The model was calibrated and validated for periods before (2000–2018) and after (2019–2021) the collapse of Brumadinho dam in 25 January 2019, with great accuracy measured by various performance indicators (e.g., R2 ≈ 0.8). The flow of phosphorus-containing sludge from the iron-ore tailings explored in the Córrego do Feijão Mine of Vale, SA, and released after the B1 dam break has impacted the Paraopeba River water through large increments in the TOT-P near the dam site (60–100%, with pre-rupture values varying between 0.06 and 0.1 mg/L). But other major sources were flagged, namely urban sources from the Betim region that raised TOT-P to ≈ 0.9 mg/L periodically during the entire simulation period. The study also revealed controls of TOT-P concentration in the basin, namely the coverage by forests that lowered down the TOT-P at 0.5–0.8 μg/L.km2. The lowering rate was, however, dependent on the occupation by argisols. As per the simulation results, the larger the percentage of argisols in a region the larger the TOT-P will be in the surrounding water courses, meaning that the argisols are prone to erosion and phosphorus leaching. A cluster analysis of input (e.g., terrain slope, soil type) and output (e.g., runoff) variables from the SWAT allowed relating TOT-P with surface- and TOT_P with underground-dominant hydrological processes, respectively runoff and groundwater flow, linking them to specific environmental variables such as argisols and steep slopes in the first case and latosols and smooth landscapes in the second case. The management implications retrieved from this holistic assessment were discussed. Finally, the TOT-P were checked against Brazilian environmental standards. In that regard, the concentration of total phosphorus was compared to limits established in Resolution 454/2012 of the National Environmental Council – CONAMA. Some sub-basins exhibited levels above the legal threshold, and the contamination was viewed as systemic requiring immediate action (e.g., implementation of sewage treatment and best management practices in agriculture), as well as monitoring in the spatial and temporal frames. The existence of extreme rainfall events in the basin was the main cause of SWAT model inaccuracies, namely of overestimated TOT-P.

The B1 tailings dam of Córrego do Feijão iron-ore mine of Vale SA, located in the Ferro-Carvão stream watershed (Brumadinho municipality, state of Minas Gerais, Brazil), collapsed in 25 January 2019. This accident had unprecedent water resources management impacts in the Paraopeba River basin, the parent of Ferro-Carvão stream, marked by the suspension of drinking water supply to the Metropolitan Region of Belo Horizonte, which was decided after the huge rise of turbidity and metal concentrations in the aquatic environment, mostly iron and manganese. The water authorities keep the use of Paraopeba River downstream of B1 dam site prohibited today, and entailed a number of studies to understand and predict the evolution of metal spreading before envisaging any suspension lift. One of those studies is presented now and had the purpose to assess the role of a weir located in the Paraopeba River and 40 km downstream from the Ferro-Carvão stream outlet, in the attenuation of iron and manganese fluxes. The weir is called Igarapé and the modeling of dissolved iron and manganese using the RiverFlow 2D software revealed a 33.5-fold attenuation of iron fluxes per unit length, from 3062.0 g/yr. km upstream the weir to 91.4 g/yr. km downstream, under stream flows typical of 10-year return periods. The attenuation was related with backwater effects that reduced flow velocities in the inundated stream banks during flood events, which induced the precipitation of iron-bearing sand particles. The attenuation was not visible for manganese because the element is preferably included in silt and clay particles that were not affected by the backwater effects because of their small sizes (and hence weights). Our results corroborate previous outcomes that highlighted the capacity of Igarapé weir to retain the B1 dam tailings, decelerating their propagation downstream, and opened a time window to remove the large volume still deposited over the river bed through dredging. The monitoring and eventual treatment of the stream banks is also paramount because the backwater effects seem to be related with flooding.

Abstract Background One-third of veterans returning from the 1990–1991 Gulf War reported a myriad of symptoms including cognitive dysfunction, skin rashes, musculoskeletal discomfort, and fatigue. This symptom cluster is now referred to as Gulf War Illness (GWI). As the underlying mechanisms of GWI have yet to be fully elucidated, diagnosis and treatment are based on symptomatic presentation. One confounding factor tied to the illness is the high presence of post-traumatic stress disorder (PTSD). Previous research efforts have demonstrated that both GWI and PTSD are associated with immunological dysfunction. As such, this research endeavor aimed to provide insight into the complex relationship between GWI symptoms, cytokine presence, and immune cell populations to pinpoint the impact of PTSD on these measures in GWI. Methods Symptom measures were gathered through the Multidimensional fatigue inventory (MFI) and 36-item short form health survey (SF-36) scales and biological measures were obtained through cytokine & cytometry analysis. Subgrouping was conducted using Davidson Trauma Scale scores and the Structured Clinical Interview for Diagnostic and statistical manual of mental disorders (DSM)-5, into GWI with high probability of PTSD symptoms (GWIH) and GWI with low probability of PTSD symptoms (GWIL). Data was analyzed using Analysis of variance (ANOVA) statistical analysis along with correlation graph analysis. We mapped correlations between immune cells and cytokine signaling measures, hormones and GWI symptom measures to identify patterns in regulation between the GWIH, GWIL, and healthy control groups. Results GWI with comorbid PTSD symptoms resulted in poorer health outcomes compared with both Healthy control (HC) and the GWIL subgroup. Significant differences were found in basophil levels of GWI compared with HC at peak exercise regardless of PTSD symptom comorbidity (ANOVA F = 4.7, P = 0.01,) indicating its potential usage as a biomarker for general GWI from control. While the unique identification of GWI with PTSD symptoms was less clear, the GWIL subgroup was found to be delineated from both GWIH and HC on measures of IL-15 across an exercise challenge (ANOVA F > 3.75, P

Background: This study aimed to evaluate the effects of physical activity on the cognition of patients with stroke, comparing the effectiveness of using isolated or combined rehabilitation, as well as the duration and intensity of training, to identify the characteristics of optimal training programs for post-stroke cognitive rehabilitation. Methods: For this systematic review, we followed PRISMA guidelines and searched Web of Science, Scopus, PEDRo, SPORTdiscus, PubMed, Trial Registries, and Google Scholar for studies published between 2013 and April 12, 2023. We included randomized controlled trials (RCTs) of interventions that measured the effect of physical activity on cognition in patients with stroke. We restricted our search to reports published in the English language. Evidence from the RCTs was synthesized. The risk of bias was assessed using the Cochrane risk of bias tool. Results: Of the 1,755 records identified, 34 were eligible, and data were available, with mainly low to moderate risk of general bias. The combined rehabilitation training programs proved more efficient when compared with isolated rehabilitation training programs in several cognitive domains. A moderate-intensity, 12-week intervention duration, with three weekly sessions, proved adequate. Discussion: It seems that combined rehabilitation training programs are efficient for patients with stroke as these alter neuroplastic conditions due to synergistic or additional onset of action. Future research should investigate combined rehabilitation training programs, with follow-up, to assess how long the recorded improvements last. The protocol of this study is registered in PROSPERO, number CRD42021248533.

The Brain Sciences Editorial Office retracts the article, “Sex-Based Differences in Plasma Autoantibodies to Central Nervous System Proteins in Gulf War Veterans versus Healthy and Symptomatic Controls” [...]

There seems to be a consensus that adolescents worldwide are not getting enough sleep. This study aimed to evaluate the psychometric properties of the Epworth Sleepiness Scale (ESS) in adolescents using the item response theory. A psychometric study was conducted with 2206 adolescents aged 18 and 19 years in the city of São Luís, Maranhão, Brazil. The dimensionality of the ESS was assessed by principal component analysis. A Samejima’s graded response model (SGRM) was fitted to it. The findings of this study showed a good internal consistency and the unidimensionality of the ESS. Considering the latent trait continuum, we obtained three levels, with anchor items. For the item ‘Sitting still in a public place’, the adolescents presented a small possibility of dozing in level 1, and a medium and great possibility in level 2. The item ‘Sitting around talking to someone’ presented small, medium, and great possibilities of dozing in level 3. The ESS with five items showed satisfactory psychometric properties. In addition, the results from the SGRM showed that adolescents with high levels of sleepiness are likely to nod off or sleep sitting up while talking to someone. This study allows us to understand excessive daytime sleepiness in adolescents.

To investigate the dynamics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in a vulnerable population of children and their household contacts. SARS-CoV-2 reverse transcription polymerase chain reaction assays and coronavirus disease 2019 (COVID-19) immunoglobulin G serology tests were performed in children and their household contacts after enrollment during primary health care clinic visits. Participants were followed prospectively with subsequent specimens collected through household visits in Manguinhos, an impoverished urban slum (a favela) in Rio de Janeiro at 1, 2, and 4 weeks and quarterly post study enrollment. Six hundred sixty-seven participants from 259 households were enrolled from May to September 2020. This included 323 children (0-13 years), 54 adolescents (14-19 years), and 290 adults. Forty-five (13.9%) children had positive test results for SARS-CoV-2 polymerase chain reaction. SARS-CoV-2 infection was most frequent in children aged

Abstract Background There is a rapid increase in the incidence of inflammatory bowel diseases (IBD) in newly industrialized countries, yet epidemiological data is incomplete. We herein report the methodology adopted to study the incidence of IBD in newly industrialized countries and to evaluate the effect of environmental factors including diet on IBD development. Methods Global IBD Visualization of Epidemiology Studies in the 21st Century (GIVES-21) is a population-based cohort of newly diagnosed persons with Crohn’s disease and ulcerative colitis in Asia, Africa, and Latin America to be followed prospectively for 12 months. New cases were ascertained from multiple sources and were entered into a secured online system. Cases were confirmed using standard diagnostic criteria. In addition, endoscopy, pathology and pharmacy records from each local site were searched to ensure completeness of case capture. Validated environmental and dietary questionnaires were used to determine exposure in incident cases prior to diagnosis. Results Through November 2022, 106 hospitals from 24 regions (16 Asia; 6 Latin America; 2 Africa) have joined the GIVES-21 Consortium. To date, over 290 incident cases have been reported. All patients have demographic data, clinical disease characteristics, and disease course data including healthcare utilization, medication history and environmental and dietary exposures data collected. We have established a comprehensive platform and infrastructure required to examine disease incidence, risk factors and disease course of IBD in the real-world setting. Conclusions The GIVES-21 consortium offers a unique opportunity to investigate the epidemiology of IBD and explores new clinical research questions on the association between environmental and dietary factors and IBD development in newly industrialized countries.

The Brain Sciences Editorial Office retracts the article “Using Plasma Autoantibodies of Central Nervous System Proteins to Distinguish Veterans with Gulf War Illness from Healthy and Symptomatic Controls” [...]

Enquadramento: A violência conjugal (VC) representa um problema de saúde pública, sendo a intervenção dos enfermeiros influenciada pelas suas crenças e conhecimentos. Objetivo: Analisar as perceções, crenças e os conhecimentos dos enfermeiros de família (EF) sobre a VC. Metodologia: Estudo observacional, descritivo e correlacional, partindo de uma amostra não probabilística de 98 EF, através de questionário online, utilizando escalas sobre perceção, crenças e conhecimentos sobre VC. Resultados: Numa situação de VC, a maioria dos EF (78%) encaminha as vítimas para outros profissionais e apenas 16% faz a denúncia. Um terço dos EF fez formação nesta área. Como barreiras para a sua intervenção, identificaram a falta de preparação teórica e técnica e falhas ao nível da organização das unidades de saúde. Globalmente, apresentaram baixo nível de crenças (1,44 ± 0,45) e conhecimentos aceitáveis (2,90 ± 0,41). O sexo masculino influenciou significativamente o nível de crenças sobre VC. Conclusão: Os EF percecionam situações de VC, contudo necessitam de formação e de condições favoráveis nas unidades de saúde para intervirem de forma efetiva.

Trata-se de um estudo qualitativo cujo objetivo central foi mapear os estudantes público-alvo da Educação Inclusiva matriculados na rede de ensino municipal de Ouro Preto – MG, incluindo os 12 distritos. Como objetivos específicos buscamos: identificar ano de escolaridade, necessidade educacional específica e escola em que estão matriculados estudantes público-alvo da Educação Inclusiva matriculados na rede ensino municipal de Ouro Preto – MG no ano de 2022; identificar se há oferta de AEE e como ela ocorre; e apresentar características gerais da identificação e encaminhamento desses estudantes no município. Para isso, realizamos uma análise documental de fichas de acompanhamento dos estudantes; planilha correspondente aos dados das fichas; lista de escolas que oferecem Atendimento Educacional Especializado (AEE) e que contam com sala de recursos e/ou sala de recursos multifuncionais; o edital de contratação de profissionais para AEE e edital de contratação dos monitores educacionais. Identificamos que a rede municipal conta com 114 estudantes matriculados da Educação Infantil ao Ensino Fundamental, com necessidades educacionais específicas diversas como Transtorno do Espectro Autista (TEA), Deficiência intelectual, Surdez entre outros, sendo apoiados por monitores e/ou professores especializados. Das 28 escolas referente a matrícula desses estudantes, 5 contam com AEE junto à sala de recursos.

IntroductionStroke is a neurological deficit caused by an acute focal injury to the central nervous system due to vascular injury that can result in loss of neurological function, lasting brain damage, long-term disability and, in some cases, death. The literature reports that aerobic physical exercise, as well as dual-task cognitive walking, are used for the cognitive recovery of people with stroke. We aimed to assess whether aerobic physical exercise influences post-stroke cognitive recovery, namely performance on selective and sustained attention. We tested the hypothesis that post-stroke aerobic physical exercise leads to more significant gains than post-stroke dual-task cognitive walking.MethodsWe used a Randomized Clinical Trial, single-blind, parallel group, to verify the existence of differences between two groups. A total of 34 patients with subacute to chronic stroke were divided into two groups to train three times a week for 12 weeks: the aerobic physical exercise (PE) group engaged in 20 min on a treadmill, 20 min on a stationary bicycle and 5 min on a desk bike pedal exerciser per session; the dual-task (DT) gait exercise group walked for 45 min while simultaneously performing cognitive tasks per session. All participants were assessed on cognitive functioning with the Mini-Mental State Examination (MMSE) and d2 Test of Attention before acute interventions and post interventions. We have also applied a Visual Analog Scale to monitor the participants’ perceived difficulty, pre-, post-acute, and post-chronic interventions. Participants also responded to a Borg Scale of perceived exertion following the acute and the final session of chronic training.ResultsA mixed model ANOVA revealed a significant interaction effect with a large effect size for most of the cognitive variables under study. The variables associated with the d2 Test of Attention showed significant differences between the groups, mainly from T0 to T2. Also for MMSE, an ANOVA revealed a significant interaction effect with significant improvements from T0 to T2. Our results strongly suggest that aerobic physical exercise is more beneficial than dual-task cognitive-gait exercise since in the PE group, cognitive attention scores increase, and cognitive impairment and perception of exertion decrease, compared to the DT group.ConclusionThese findings support that PE provides more significant benefits for patients post-stroke when compared to DT.

A obra De gados e homens (2013), da escritora Ana Paula Maia, convida-nos a refletir sobre o consumo da carne numa sociedade capitalista moderna. Da carne dos trabalhadores precarizados no matadouro, corpos estes moldados no processo de trabalho, ao abate dos animais produtores de carne destinada às fábricas de hambúrguer. Diante dessa perspectiva, o texto literário nos permite pensar os impactos ambientais e sociais gerados por abatedouros. No contexto onde o crescimento da fome coincide com um pico na exportação de carne bovina, o romance de Maia emerge como uma obra atual no país. Este trabalho pretende, portanto, examinar a interação entre natureza e ação humana na narrativa, buscando compreender as diversas complexidades que a permeiam. Nas reflexões ora propostas, reconhecemos que a carne explícita na obra de Maia surge atravessada por inscrições políticas e culturais. Nesse sentido, sob o viés dos estudos animais no texto literário, o trabalho fundamenta-se nas contribuições de Vânia Márcia Damasceno Nogueira (2012), Peter Singer (2013), Gabriel Giorgi (2015) e Carol J. Adams (2018).

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by TIMM8A loss of function. It is characterized by sensorineural hearing loss in childhood, progressive optic atrophy in early adulthood, early onset dementia and psychiatric symptoms of variable expressivity. We present a family with 4 affected males, explore age-related and interfamilial variability and review the literature.Case reportA 31 years-old male developed psychiatric symptoms at age 18 and presented early onset dementia. Sensorineural hearing loss had been diagnosed in childhood. At 28yo, he developed dysarthria, dysphonia, dysmetria, limb hyperreflexia, dystonia, and spasticity following an acute encephalopathic crisis. WES revealed a hemizygous novel likely pathogenic variant in TIMM8A, c.45_61dup p.(His21Argfs*11), establishing the diagnosis of MTS. Genetic counseling of the family allowed the diagnosis of three other symptomatic relatives −3 nephews (11yo and two 6yo twins), children of a carrier sister. The oldest nephew had been followed since 4yo due to speech delay. Sensorineural hearing loss was diagnosed at 9yo, and hearing aids were prescribed. The two other nephews were monozygotic twins, and both had unilateral strabismus. One of the twins had macrocephaly and hypoplasia of the anterior temporal lobe, as disclosed by an MRI performed due to febrile seizures. Both had developmental delays, with the language being the most affected area. Their audiograms confirmed hearing loss. All three nephews were hemizygous for the familial TIMM8A variant.DiscussionHearing loss, an early sign of MTS due to auditory neuropathy, can often be overlooked until more severe features of the disorder manifest. Recurrence risk is high for female carriers, and reproductive options should be offered. Early monitoring of hearing and vision loss and neurological impairment in MTS patients is mandatory since early interventions may positively impact their development. This family showcases the importance of performing a timely etiological investigation of hearing loss and its impact on genetic counseling.

A three-parameter lifetime distribution is proposed, named extended Chen-Poisson distribution, by compounding the Chen and zero-truncated Poisson distributions. The new distribution belongs to the unified Poisson family, where both distributions of the minimum and maximum are merged into one. Several properties of the distribution are studied. The proposed distribution is quite flexible since it accommodates different complex hazard shapes. Inference is based on the maximum likelihood method in the presence of a right-censoring mechanism. A simulation study is performed to evaluate the properties of the parameters estimators. Two real lifetime data sets are analysed for purposes of comparison with other generalizations of the Chen distribution, as well as with other members of the unified Poisson family. The obtained results allow to highlight the potential of the new distribution.

Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient’s phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning.

Abstract When considering deaf and hard of hearing (DHH) population, research recognizes that fatigue due to communication challenges and multi-focal attention allocation is a significant concern. Given the putative heightened demands of distance learning on deaf and hard of hearing students, we investigate how an online environment might differently affect deaf and hard of hearing participants, compared to hearing participants, Portuguese Sign Language (PSL) users and non-users. Our findings show that the deaf and hard of hearing group present higher values in the post-task fatigue rates with significant differences from the hearing group (non-PSL users). Furthermore, our results revealed an association between post-task fatigue rates and lower performance scores for the deaf and hard of hearing group, and the gap is significantly bigger when compared with the hearing group (non-PSL users). We also found evidence for high levels of post-task fatigue and lower performance scores in the hearing group PSL users. These novel data contribute to the discussion concerning of the pros and cons of digital migration and help redesign more accessible and equitable methodologies and approaches, especially in the DHH educational field, ultimately supporting policymakers in redefining optimal learning strategies.

Abstract Phubbing is defined as ignoring other individuals by using a mobile phone during a face-to-face conversation. The Phubbing Scale (PS) was developed to assess this practice. In this study, we analyze the psychometric properties of the 8-item version of the PS (PS-8) in the Portuguese population, providing validity evidence based on internal structure and on relationships with other variables, and examining item properties, reliability, and measurement invariance across gender. Participants were 391 Portuguese adults (132 men, 259 women) who completed a battery of questionnaires. Confirmatory factor analysis yielded satisfactory goodness-of-fit indices for the two-factor structure (communication disturbance and phone obsession), which was invariant across gender. Item homogeneity and reliability of factor scores (McDonald’s omega) were satisfactory. Validity evidence based on relationships with other variables was provided by positive associations with time spent on the Internet on weekdays and at the weekend, time spent on social networking sites, number of social networks used, Internet addiction, problematic mobile phone use, Facebook intrusion, fear of missing out, and depression. These associations show the addictive component of phubbing and its relationship with mental health. The PS-8 is a short and easy-to-administer scale with adequate psychometric properties for measuring phubbing in the Portuguese population.