The Location of Home Support Services for Older Adults in the Aveiro Region of Portugal.

Home and community-based services are key to an aging society and the aging in place strategies that are preferred by older adults as well as policymakers. But the provision of these kinds of services is often inadequate in territorial terms, raising the question of how to increase their reach and efficiency. This article analyzes the spatial coverage of home support services in the Aveiro Region of Portugal, considering the distribution of their target population and identifying network configurations which would provide these services more efficiently, through a location analysis that minimizes the distance to potential users of these services. This approach showed that, in the Aveiro Region, the spatial coverage of these services is highly uneven and insufficient, considering that the population with difficulties in performing daily tasks exceeds the population benefiting from these services and that the level of coverage differs greatly between territories. It also showed that significant efficiency and equity gains are possible by optimizing the service providers' location at the supra-municipal scale, decreasing the distances to be covered and reducing territorial inequalities.

Emotion Detection from EEG Signals Using Machine Deep Learning Models.

Detecting emotions is a growing field aiming to comprehend and interpret human emotions from various data sources, including text, voice, and physiological signals. Electroencephalogram (EEG) is a unique and promising approach among these sources. EEG is a non-invasive monitoring technique that records the brain's electrical activity through electrodes placed on the scalp's surface. It is used in clinical and research contexts to explore how the human brain responds to emotions and cognitive stimuli. Recently, its use has gained interest in real-time emotion detection, offering a direct approach independent of facial expressions or voice. This is particularly useful in resource-limited scenarios, such as brain-computer interfaces supporting mental health. The objective of this work is to evaluate the classification of emotions (positive, negative, and neutral) in EEG signals using machine learning and deep learning, focusing on Graph Convolutional Neural Networks (GCNN), based on the analysis of critical attributes of the EEG signal (Differential Entropy (DE), Power Spectral Density (PSD), Differential Asymmetry (DASM), Rational Asymmetry (RASM), Asymmetry (ASM), Differential Causality (DCAU)). The electroencephalography dataset used in the research was the public SEED dataset (SJTU Emotion EEG Dataset), obtained through auditory and visual stimuli in segments from Chinese emotional movies. The experiment employed to evaluate the model results was "subject-dependent". In this method, the Deep Neural Network (DNN) achieved an accuracy of 86.08%, surpassing SVM, albeit with significant processing time due to the optimization characteristics inherent to the algorithm. The GCNN algorithm achieved an average accuracy of 89.97% in the subject-dependent experiment. This work contributes to emotion detection in EEG, emphasizing the effectiveness of different models and underscoring the importance of selecting appropriate features and the ethical use of these technologies in practical applications. The GCNN emerges as the most promising methodology for future research.

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes. Among the ultra-rare and recently discovered genes is ARSG, coding for the lysosomal sulfatase Arylsulfatase G. This subtype was assigned as "USH IV" with a late onset of RP and usually late-onset progressive SNHL without vestibular involvement. Here, we describe nine new subjects and the clinical description of four cases with the USH IV phenotype bearing seven novel and two known pathogenic variants. Functional experiments indicated the complete loss of sulfatase enzymatic activity upon ectopic expression of mutated ARSG cDNA. Interestingly, we identified a homozygous missense variant, p.(Arg99His), previously described in dogs with neuronal ceroid lipofuscinosis. Our study expands the genetic landscape of ARSG-USH IV and the number of known subjects by more than 30%. These findings highlight that USH IV likely has been underdiagnosed and emphasize the need to test molecularly unresolved subjects with deafblindness syndrome. Finally, testing of ARSG should be considered for the genetic work-up of apparent isolated inherited retinal diseases.

Dissecting the invasion history of Spotted-Wing Drosophila (Drosophila suzukii) in Portugal using genomic data.

BACKGROUND: The invasive pest Spotted-Wing Drosophila, Drosophila suzukii (Matsumura), causes extensive damage and production losses of soft-skinned fruits. Native to Asia, the species has now spread worldwide, with first reports in Portugal in 2012. In this study, we focus on the genomic signatures of the recent Portuguese invasion, in the context of worldwide patterns established in previous works. We analyzed whole genome pool sequencing data from three Portuguese populations (N = 240) sampled in 2019 and 2021. RESULTS: The correlation of allele frequencies suggested that Portuguese populations are related to South European ones, indicating a Mediterranean invasion route. While two populations exhibited levels of genetic variation comparable to others in the invasive range, a third showed low levels of genetic diversity, which may result from a recent colonization of the region. Genome-wide analyses of natural selection identified ten genes previously associated with D. suzukii's invasive capacity, which may have contributed to the species' success in Portugal. Additionally, we pinpointed six genes evolving under positive selection across Portuguese populations but not in European ones, which is indicative of local adaptation. One of these genes, nAChRalpha7, encodes a nicotinic acetylcholine receptor, which are known targets for insecticides widely used for D. suzukii control, such as neonicotinoids and spinosyns. Although spinosyn resistance has been associated with mutations in the nAChRalpha6 in other Drosophila species, the putative role of nAChRalpha7 in insecticide resistance and local adaptation in Portuguese D. suzukii populations encourages future investigation. CONCLUSIONS: Our results highlight the complex nature of rapid species invasions and the role of rapid local adaptation in determining the invasive capacity of these species.

An evolutionary perspective to innate antiviral immunity in animals.

Viruses pose a significant threat to cellular organisms. Innate antiviral immunity encompasses both RNA- and protein-based mechanisms designed to sense and respond to infections, a fundamental aspect present in all living organisms. A potent RNA-based antiviral mechanism is RNA interference, where small RNA-programmed nucleases target viral RNAs. Protein-based mechanisms often rely on the induction of transcriptional responses triggered by the recognition of viral infections through innate immune receptors. These responses involve the upregulation of antiviral genes aimed at countering viral infections. In this review, we delve into recent advances in understanding the diversification of innate antiviral immunity in animals. An evolutionary perspective on the gains and losses of mechanisms in diverse animals coupled to mechanistic studies in model organisms such as the fruit fly Drosophila melanogaster is essential to provide deep understanding of antiviral immunity that can be translated to new strategies in the treatment of viral diseases.

Impact of vaccination with the Anaplasma phagocytophilum MSP4 chimeric antigen on gene expression in the rabbit host.

There are currently no vaccines available to prevent and control of Anaplasma phagocytophilum, an intracellular bacterial pathogen transmitted by ticks that occurs in many regions of the world and causes disease in a wide range of domestic and wild hosts, including humans. Vaccines induce long-lasting immunity and could prevent or reduce transmission of this pathogen. Understanding how vaccines induce a protective response can be difficult due to the complexity of the immune system, which operates at many levels throughout the organism. New perspectives in vaccinology, based on systems biology approaches, integrate many scientific disciplines to fully understand the biological responses to vaccination, where a transcriptomic approach could reveal relevant information of the host immune system, allowing profiling for rational design of vaccine formulations, administration, and potential protection. In the present study we report the gene expression profiles by RNA-seq followed by functional analysis using whole blood samples from rabbits immunized with a recombinant chimeric protein containing peptides from the MSP4 protein of A. phagocytophilum, which showed satisfactory results in terms of potential protection. Transcriptomic analysis revealed differential expression of 720 genes, with 346 genes upregulated and 374 genes downregulated. Overrepresentation of biological and metabolic pathways correlated with immune response, protein signaling, cytoskeleton organization and protein synthesis were found. These changes in gene expression could provide a complete and unique picture of the biological response to the epitope candidate vaccine against A. phagocytophilum in the host.

Pars-plana vitrectomy for the treatment of vitreous amyloid in patients with hereditary transthyretin amyloidosis.

PURPOSE: To describe a series of patients with hereditary transthyretin amyloidosis (ATTRv) with vitreous amyloid and to study the efficacy and safety of pars plana vitrectomy (PPV) for its treatment. METHODS: Retrospective study of 266 patients with ATTRv due to Val30Met mutation submitted to PPV for vitreous amyloid, with a minimum 3-month follow-up. Indications for surgery were disabling myodesopsia or 2 lines loss in visual acuity. Only the first operated eye was considered for analysis. RESULTS: Male patients were operated at younger age (51.0 vs 53.6, p<0.001). Best-corrected visual acuity improved from 0.38 to 0.89 (decimal scale, p<0.001). Preoperative glaucoma was associated with lower gain in visual acuity (p<0.001). During the follow-up, 69%, 22% and 1% developed new onset glaucoma, retinal angiopathy or retinal detachment, respectively, and 36% required cataract surgery. PPV was also required in the fellow eye in 57%. ATTRv-related death occurred in 27%, 9.3 95%CI 8.0-10.7 years after PPV. CONCLUSION: Vitreous opacities are frequently the first symptomatic manifestation of ocular amyloidosis. Moreover, they may be a marker of mortality. Vitrectomy is a safe and effective treatment, but these patients require long-term follow-up to monitor the development or worsening of glaucoma or retinal angiopathy.

Impact and Correction of an Anterior Phakic Intraocular Lens on Swept-Source Optical Coherence Tomography Biometry.

PURPOSE: To evaluate the impact of anterior chamber phakic intraocular lens (pIOL) on swept-source optical coherence tomography (SS-OCT) biometric measurements and IOL power calculation. METHODS: This retrospective analysis of 67 eyes of 49 patients with previous anterior chamber pIOL implantation analyzed the accuracy of automatic segmentation of the anterior surface of the crystalline lens and its impact on anterior chamber depth (ACD, measured from epithelium to lens), lens thickness measurements, and IOL power calculation. The sample was divided into two groups: correct detection of the anterior surface of the crystalline lens and inaccurate detection. Segmentation of eyes from the inaccurate detection group was manually corrected and ACD and lens thickness were calculated using ImageJ software. IOL power was calculated using 7 formulas for both measurements. RESULTS: The anterior surface of the crystalline lens was mis-identified in 13 (19.4%) eyes. ACD was underestimated (Δ -0.85 ± 0.33 mm, P < .001) and lens thickness was overestimated (Δ +0.81 ± 0.25 mm, P < .001). Manual correction changed the target spherical equivalent only in the Haigis formula (P = .009). After correction for segmentation bias, the Pearl DGS, Cooke K6, and EVO 2.0 formulas showed the lowest prediction error, with the Pearl DGS showing greatest accuracy within ±1.00 diopters of prediction error range (81.0%). CONCLUSIONS: SS-OCT biometry misidentifies the anterior surface of the crystalline lens in a significant proportion, resulting in significant IOL power calculation error in the Haigis formula. Manual proofing of segmentation is mandatory in every patient with anterior chamber pIOL implantation. After correct segmentation, the Pearl DGS, Cooke K6, and EVO seem to be the best formulas. [J Refract Surg. 2024;40(8):e562-e568.].

Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.

INTRODUCTION: The purpose of this project was to explore the current standards of clinical care genetic testing and counseling for patients with inherited retinal diseases (IRDs) from the perspective of leading experts in selected European countries. Also, to gather opinions on current bottlenecks and future solutions to improve patient care. METHODS: On the initiative of the European Vision Institute, a survey questionnaire with 41 questions was designed and sent to experts in the field from ten European countries. Each participant was asked to answer with reference to the situation in their own country. RESULTS: Sixteen questionnaires were collected by November 2023. IRD genetic tests are performed in clinical care settings for 80% or more of tested patients in 9 countries, and the costs of genetic tests in clinical care are covered by the public health service to the extent of 90% or more in 8 countries. The median proportion of patients who are genetically tested, the median rate of genetically solved patients among those who are tested, and the median proportion of patients receiving counseling are 51-70%, 61-80%, and 61-80%, respectively. Improving the education of healthcare professionals who facilitate patient referrals to specialized centers, improving access of patients to more thorough genotyping, and increasing the number of available counselors were the most advocated solutions. CONCLUSION: There is a significant proportion of IRD patients who are not genetically tested, whose genetic testing is inconclusive, or who do not receive counseling. Educational programs, greater availability of state-of-the-art genotyping and genetic counselors could improve healthcare for IRD patients.

Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration.

Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male patients but also some heterozygous females. Vision-related disability and anxiety of patients with RPGR-associated retinal degeneration have never been explored before. This study aimed to evaluate self-reported visual function and vision-related anxiety in a Portuguese cohort of male and female patients with RPGR-associated retinal degeneration using two validated patient-reported outcome measures. Cross-sectional data of thirty-two genetically-tested patients was examined, including scores of the Michigan retinal degeneration questionnaire (MRDQ) and Michigan vision-related anxiety questionnaire. Patients were classified according to retinal phenotypes in males (M), females with male phenotype (FM), and females with radial or focal pattern. Both M and FM revealed higher rod-function and cone-function anxiety scores (p < 0.017). Most MRDQ disability scores were higher in M and FM (p < 0.004). Overall, positive correlations (p < 0.004) were found between every MRDQ domain and both anxiety scores. In RPGR-associated retinal degeneration, males and females with male phenotype show similar levels of increased vision-related anxiety and disability. Every MRDQ visual function domain showed a strong correlation with anxiety scores.

Remarks on Eimeria spp. (Apicomplexa: Eimeriidae) from Kobus spp. (Bovidae: Reduncini), with supplementary morphological data of Eimeria congolensis Ricci-Bitti et al., 1973 from a new host subspecies, the common waterbuck Kobus ellipsiprymnus ellipsiprymnus (Ogilbyi, 1833).

Reduncin bovids of Kobus spp. (Bovidae: Reduncini) are natively distributed in sub-Saharan Africa, although some populations have been introduced into parks and zoos around the world. The majority of the species has declining populations, being categorized as threatened by the International Union for Conservation of Nature and Natural Resources; therefore, protective measures for the conservation of Kobus spp. are necessary, including the study of their parasites, such as the eimeriid coccidians (Apicomplexa: Eimeriidae). In this context, the aim of the current study was to brings together the taxonomic data from the descriptions and reports of Eimeria spp. from reduncin bovids, based on the detailed morphological identification of Eimeria congolensis Ricci-Bitti, Pampiglione & Kabala, 1973 from a new host subspecies, the common waterbuck Kobus ellipsiprymnus ellipsiprymnus (Ogilbyi, 1833), in a safari park of Portugal. Five Eimeria spp. are recorded from reduncin bovids, in addition to six more reports identified generically as Eimeria sp., which were compared and taxonomically rearranged. The oocysts identified as E. congolensis in the current study were compatible with the original description and were supplemented for some taxonomic characters not originally included, such as: Stieda body flattened to nipplelike, sub-Stieda body rounded to trapezoidal, sporocyst residuum granular and membrane-bound, in addition to greater details of the micropyle, among others. Finally, the current study highlights the importance of studying the coccidians of reduncin bovids for the conservation of Kobus spp. due to the possibility of these Eimeria spp. are extra-intestinal parasites, which can potentially cause severe coccidiosis associated with increased morbidity and mortality in certain threatened populations of Kobus spp.

An exploration of blood-based biomarkers of negative symptoms of psychosis in men.

Negative symptoms in the context of psychosis are still poorly understood and diagnosed, which impairs the treatment efficacy of current therapies and patient's integration in society. In this study, we aimed to test hypothesis-based and exploratory associations of negative symptom domains, as defined by the Brief Negative Symptom Scale (BNSS), with hormonal and hematological variables, and, complementarily, with standard psychological/cognitive and psychopathological measures. Fifty-one male patients diagnosed with a psychotic disorder underwent a structured interview and blood collection. Standard Spearmen bivariate correlations were used for data analysis. We obtained evidence of hypothesis-based associations between specific negative symptoms and oxytocin, thyroid stimulating hormone levels and neutrophil-to-lymphocyte ratio; as well as novel and hypothesis-free associations with erythrocyte and lymphocyte count, mean corpuscular volume and red cell distribution width. Complementarily, we also obtained some validation of previous associations of negative symptoms with illness resolution, cognitive symptom severity and social performance, and a novel association with anger contagion. We hope our results can generate new hypotheses in psychosis research. Our work suggests further avenues in research on erythrocytic, inflammatory, thyroid and oxytocin-related markers and abnormalities in psychosis, especially in regards to specific negative symptoms, towards more precise and comprehensive etiological, diagnostic and therapeutic models.

The Portuguese version of the self-report form of the DSM-5 Level of Personality Functioning Scale (LPFS-SR) in a community and clinical sample.

The Level of Personality Functioning Scale-Self-Report (LPFS-SR) operationalizes Criterion A of the DSM-5 Alternative Model for Personality Disorders. The current study aimed 1) to examine the internal consistency of the Portuguese version of the LPFS-SR in a community sample and a clinical sample, 2) to compare non-clinical participants (N = 282, Mage = 48.01, SD = 10.87) with two samples of clinical participants, one composed of patients with a personality disorder diagnosis (PD sample, n = 40, Mage = 46.18, SD = 13.59) and the other of patients with other psychiatric diagnoses (OD sample, n = 148, Mage = 49.49, SD = 11.88), with respect to LPFS-SR dimensions and total score, 3) to examine the capacity of the LPFS-SR to discriminate between samples through the ROC curve analyses, and 4) to examine the factor structure of the Portuguese version of the LPFS-SR. The Portuguese version of the LPFS-SR revealed adequate internal consistency results, akin to the original data, in the community and clinical samples. The community sample differed significantly from both clinical samples in all the LPFS-SR dimensions and total score. The ROC curve analysis indicated an optimal cut-off for the total score of 272.00, corresponding to a sensitivity of 75% and a specificity of 89%, in the PD vs. community samples. The LPFS-SR total score discriminative capacity between the PD and OD samples was lower, albeit also significant (area-under-the-curve of .63; p = .027; 95% CI: .52-.74). The current study provided evidence of the LPFS-SR's unidimensionality in both community and clinical samples. Although this study has limitations, its findings contribute to a deeper understanding of the LPFS-SR construct, as well as to its cross-cultural validation.

Racial Disparities in Glioblastoma Genomic Alterations: A Comprehensive Analysis of a Multi-Institution Cohort of 2390 Patients.

BACKGROUND: Although molecular biomarkers have significantly advanced precision oncology in glioblastoma, the prevalence of these biomarkers by race remains underexplored. This study aims to characterize the genomic alterations in glioblastoma across Asian, Black, and White patients, offering insights into racial disparities that may influence treatment outcomes and disease progression. METHODS: Analyzing data from the American Association for Cancer Research Project Genomics Evidence Neoplasia Information Exchange database V13.0, this study examined 2390 primary glioblastoma samples from unique patients. Genomic alterations in 566 cancer-related genes were assessed using targeted next-generation sequencing panels from 3 large cancer institutes. The patient cohort included 112 Asians, 67 Blacks, and 2211 Whites. Statistical significance of associations between genomic alterations and race was evaluated using the chi-squared test, with the Benjamini-Hochberg method applied to control for multiple testing adjustments. RESULTS: Significant racial differences were observed in the frequency of genomic alterations. Asians exhibited a higher frequency of TP53 alterations (52.68%, P < 0.001), Blacks showed more frequent alterations in NRAS (7.46%, P < 0.001), MTOR (10.45%, P = 0.039), and TET2 (8.96%, P = 0.039), and Whites had a higher occurrence of PTEN alterations (48.67%, P = 0.045). Additionally, Black patients had an elevated rate of RET deletions (14.29%, P < 0.001). CONCLUSIONS: This study identifies significant racial disparities in the alteration frequencies of 6 key glioblastoma genes: NRAS, TP53, MTOR, TET2, PTEN, and RET. These findings underscore the need for racial considerations in glioblastoma treatment strategies and highlight potential avenues for targeted therapeutic interventions. Further research is needed to explore the clinical implications of these genomic disparities.

Uncovering multiscale structure in the variability of larval zebrafish navigation.

Animals chain movements into long-lived motor strategies, exhibiting variability across scales that reflects the interplay between internal states and environmental cues. To reveal structure in such variability, we build Markov models of movement sequences that bridges across time scales and enables a quantitative comparison of behavioral phenotypes among individuals. Applied to larval zebrafish responding to diverse sensory cues, we uncover a hierarchy of long-lived motor strategies, dominated by changes in orientation distinguishing cruising versus wandering strategies. Environmental cues induce preferences along these modes at the population level: while fish cruise in the light, they wander in response to aversive stimuli, or in search for appetitive prey. As our method encodes the behavioral dynamics of each individual fish in the transitions among coarse-grained motor strategies, we use it to uncover a hierarchical structure in the phenotypic variability that reflects exploration-exploitation trade-offs. Across a wide range of sensory cues, a major source of variation among fish is driven by prior and/or immediate exposure to prey that induces exploitation phenotypes. A large degree of variability that is not explained by environmental cues unravels motivational states that override the sensory context to induce contrasting exploration-exploitation phenotypes. Altogether, by extracting the timescales of motor strategies deployed during navigation, our approach exposes structure among individuals and reveals internal states tuned by prior experience.

A review of published studies on virtual reality in sexuality research.

INTRODUCTION: Virtual reality (VR) technology contributes to greater approach of methodological safety to make ecological validity more feasible and a growing interest in sexuality behaviors. OBJECTIVES: The aim of this study was to show VR in the sexuality area by a comprehensive review of outcomes, offer a synthesis of the studies, and make a methodological quality assessment of finding results. A secondary goal was to investigate the effect of immersion on diverse sexual responses outcomes. METHODS: We designed a review based on a systematic review strategy describing types of studies, participants, data collection and outcomes; searched in 4 electronic databases (PubMed, EMBASE, PsycINFO, and SciELO), and made a full-text screening process. RESULTS: The study found 18 articles that met research criteria synthesized within 3 outcome groups: erection measures, level of immersion, and biomarker studies. Synthesis shows a lack of methodological aspects that impair results, such as description of methods from bias protection, randomization, or concealment. The literature still needs to improve its methodology, even though it already shows relevant data for intervention in sexual dysfunction, forensic psychiatry, sexual attraction, orientation, and use of pornography. CONCLUSION: Current methodological issues need better design to highlight relevant issues in sexuality with stronger quality of design, opening boundaries to new diagnostic or interventional technologies to sexual health.