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Objective: To understand the susceptibility to single nucleotide polymorphisms in the promoter region of Interleukin-4 (IL-4) and Interleukin-13 (IL-13) in patients with and without periodontal disease. Thus, a systematic review of available studies on the subject was performed. Material and Methods: A protocol was conducted for registration in the International Prospective Register of Systematic Reviews (PROSPERO) under CRD42021246646. For this search, studies were selected from the Scopus, Web of Science, Virtual Health Library, Embase, Cochrane Library, and PubMed databases. The selection criteria consisted of case-control and cohort studies published in English that had data on IL-4 and IL-13 genetic polymorphisms in patients with and without periodontal disease in the same study. The obtained studies were managed by EndNote Program™ X7 version and the Rayyan Platform. Regarding the risk of bias, we used the Newcastle-Ottawa Scale, which classified the studies using high-quality methodology. Results: After the selection process, three studies presented the eligibility criteria. No relation between IL-13 and susceptibility to periodontal disease was found. IL-4 gene (IL-4 -590C/T; IL-4-34C/T; rs2243248) was associated with susceptibility to the development of periodontitis. Conclusion: An association between IL-4 and the susceptibility of periodontitis was verified. Further case-control studies are needed to create more concrete conclusions on the subject.

Introduction: This study aimed to build and validate a proposal for safety and emergency material and equipment adjusted to the practice of mountain sports in Portugal. The proposal was developed through documentary analysis, literature review, and expert consultation. Methods: The validation of the contents of the proposal was carried out using the Delphi technique, with the participation of 30 experts, male (N = 18) and female (N = 12), aged between 32 and 61 years (M = 42.50; SD = 7.29), with a mean of 16.63 ± 5.60 years of experience, divided into 4 groups: (i) pre-hospital trainers; (ii) pre-hospital nurses; (iii) pre-hospital physicians; (iv) higher education teachers in the field of mountain sports. The 1st version of the proposal was structured in 7 areas and included 29 items (material and/or equipment). The final version of the proposal was structured in 8 areas (general material, measuring equipment, burns, trauma, respiratory, medication, communications, and survival kit) and included 44 items (material and equipment). Results: The proposal showed Content Validity Index (CVI) values of 100%. Concerning the reliability and validity of the proposal, intraclass correlation coefficient values of 0.986 (excellent) were found for technical importance and 0.983 (excellent) for contextual fit. All values show a high level of inter-expert agreement. Conclusion: The validated proposal will be an appropriate tool for mountain sports technicians to use in order to promote safety, reduce accidents and their consequent morbidity, and reduce the activation of rescue teams.

Abstract Background Extubation during extracorporeal oxygenation (ECMO) in severe acute respiratory distress syndrome (ARDS) has not been well studied. Despite the potential benefits of this strategy, weaning from ECMO before liberation from invasive mechanical ventilation remains the most frequent approach. Our aim was to evaluate the safety and feasibility of a standardized approach for extubation during ECMO in patients with severe ARDS. Results We conducted a prospective observational study to assess the safety and feasibility of a standardized approach for extubation during ECMO in severe ARDS among 254 adult patients across 4 intensive care units (ICU) from 2 tertiary ECMO centers over 6 years. This consisted of a daily assessment of clinical and gas exchange criteria based on an Extracorporeal Life Support Organization guideline, with extubation during ECMO after validation by a dedicated intensive care medicine specialist. Fifty-four (21%) patients were extubated during ECMO, 167 (66%) did not reach the clinical criteria, and in 33 (13%) patients, gas exchange precluded extubation during ECMO. At ECMO initiation, there were fewer extrapulmonary organ dysfunctions (lower SOFA score [OR, 0.88; 95% CI, 0.79–0.98; P = .02] with similar PaO2/FiO2) when compared with patients not extubated during ECMO. Extubation during ECMO associated with shorter duration of invasive mechanical ventilation (7 (4–18) vs. 32 (18–54) days; P

Introdução: O Departamento de Saúde Mental (DSM) do Hospital Prof. Doutor Fernando Fonseca (HFF) assume a sua visão de saúde pública e um modelo comunitário como princípios orientadores na prestação de cuidados à população pela qual é responsável. Entende também como sua missão o desenvolvimento de programas preventivos de saúde mental. O financiamento pelos EEA Grants permitiu desenvolver o programa Semente, um programa de promoção da saúde mental nos filhos de pessoas com doença psiquiátrica (COPMI). Objetivos: Os autores propõem-se descrever o programa Semente, desenvolvido pelo DSM do HFF. Enquadramento: Os COPMI representam uma população com elevado risco psicossocial, nomeadamente de negligência, maus-tratos e interações familiares disfuncionais que podem estar associados a psicopatologia familiar, assim como maior risco de exposição a estigma e isolamento. São recomendadas abordagens centradas na família, que podem ser implementadas pelos profissionais responsáveis pelo tratamento de pessoas com doença psiquiátrica, estando documentada a sua eficácia. Descrição e implementação do programa: O programa Semente tem como objetivos promover a saúde mental dos COPMI, reforçar competências parentais nas pessoas com doença psiquiátrica e identificar precocemente psicopatologia nos seus filhos. Desenvolvido em conjunto por profissionais dos Serviços de Psiquiatria de adultos (SPA) e de Psiquiatria da Infância e Adolescência (SPIA), está estruturado em três níveis de intervenção de acordo com o grau de risco psicossocial, em que o terceiro nível é de intervenção terapêutica. Através da identificação de fatores de risco e de proteção, os profissionais das equipas comunitárias de adultos orientam as famílias para intervenções preventivas. Foi definido um plano de formação geral e em intervenções específicas dirigido aos profissionais e constituída uma rede integrada de cuidados. Conclusões: O programa Semente permitiu implementar um programa de promoção da saúde mental numa população vulnerável, com maior risco de desenvolvimento de psicopatologia, mas de fácil acesso através dos seus pais. Torna possível intervir no balanço entre fatores de risco e de proteção, que medeiam a transmissão transgeracional de psicopatologia. Para a sua sustentabilidade, salienta-se o reforço da articulação entre o SPA e o SPIA e a formação dos profissionais. Trata-se de um programa inovador, sustentável e replicável.

Abstract Background Hereditary angioedema (HAE) with C1‐inhibitor deficiency (C1‐INH‐HAE) is a rare disease caused by low level (type I) or dysfunction (type II) of the C1‐inhibitor protein with subsequent reduction of certain complement protein levels. Methods To develop and test the reliability of a two‐tier method based on C1‐INH and C4 quantitation followed by genetic analysis from dried blood spot (DBS) for establishing the diagnosis of C1‐INH‐HAE. C1‐INH and C4 proteins have been quantified in human plasma using a classical immuno‐assay and in DBS using a newly developed proteolytic liquid chromatography–mass spectrometry method. Genetic analysis was carried out as reported previously (PMID: 35386643) and by a targeted next‐generation sequencing panel, multiplex ligation‐dependent probe amplification and in some cases whole genome sequencing. Results DBS quantification of C1‐INH and C4 showed the same pattern as plasma, offering the possibility of screening patients with AE symptoms either locally or remotely. Genetic analysis from DBS verified each of the previously identified SERPING1 mutations of the tested C1‐INH‐HAE patients and revealed the presence of other rare variations in genes that may be involved in the pathogenesis of AE episodes. Conclusions C1‐INH/C4 quantification in DBS can be used for screening of hereditary AE and DNA extracted from dried blood spots is suitable for identifying various types of mutations of the SERPING1 gene.

Although the discovery of the Golgi apparatus (GA) was made over 125 years ago, only a very limited number of therapeutic approaches have been developed to target this complex organelle. The GA serves as a modification and transport center for proteins and lipids and also has more recently emerged as an important store for some ions. The dysregulation of GA functions is implicated in many cellular processes associated with cancer and some GA proteins are indeed described as cancer biomarkers. This dysregulation can affect protein modification, localization, and secretion, but also cellular metabolism, redox status, extracellular pH, and the extracellular matrix structure. Consequently, it can directly or indirectly affect cancer progression. For these reasons, the GA is an appealing anticancer pharmacological target. Despite this, no anticancer drug specifically targeting the GA has reached the clinic and few have entered the clinical trial stage. Advances in nanodelivery approaches may help change this scenario by specifically targeting tumor cells and/or the GA through passive, active, or physical strategies. This article aims to examine the currently available anticancer GA-targeted drugs and the nanodelivery strategies explored for their administration. The potential benefits and challenges of modulating and specifically targeting the GA function in the context of cancer therapy are discussed.

Abstract Background Falls are associated with cognitive and physical function deterioration. Attention decline, inaccurate affordance perception, and balance impairment are considered to be risk factors for falls. Furthermore, few studies have reported psychomotor intervention as a fall prevention program. This study aimed to investigate the effects of two multimodal programs on attention, perceptual and stepping-forward boundaries, and balance in community-dwelling older adults at risk of falling. Methods Fifty-one community-dwelling older adults were recruited to participate in a 24-week randomized controlled trial. Participants (75.4 ± 5.6 years) were randomly assigned to one of three groups: the 1) multimodal psychomotor program [EG1], 2) combined program (multimodal psychomotor program + whole-body vibration program) [EG2], and 3) control group. Participants were assessed at baseline, at post-intervention, and after a 12-week no-intervention follow-up period. Results The within-group comparisons showed significant improvements in attention and balance in EG1 and EG2 after the intervention (p

Abstract Background Mental disorders are highly prevalent in older people, being depression a predominant disorder. Evidence points to a possible relationship between depression and violence against older people. Nonetheless, the role of the depressive symptomology severity in the risk of violence against older people remains unclear. Thus, this study’s main objective was to analyze the relationship between geriatric depressive symptomatology and the risk of violence against older people. Methods This exploratory study involved 502 community-dwelling older persons aged 65 to 96 years (73.3 ± 6.5). Measures were performed using the Geriatric Depression Scale and the Risk Assessment of Violence against the Non-Institutionalized Elderly scale. Results One hundred nineteen older people (23.7%) had mild/moderate depressive symptomology, and twenty-six (5.2%) had severe depressive symptomology. There were significant relationships between the severity of depressive symptomatology and the risk of violence (p

Abstract Background Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between 18 months and 8 years, but examples of later-onset have also been reported. Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis. Results We present one of the largest cohorts to date of genetically diagnosed CLN6 patients screened at a single center. In total 97 subjects, originating from 20 countries were screened between 2010 and 2020. They comprised 86 late-infantile, eight juvenile, and three adult-onset cases (two patients with Kufs disease type A, and one with teenage progressive myoclonic epilepsy). The male to female ratio was 1.06: 1.00. The age at referral was between six months and 33 years. The time from disease onset to referral ranged from less than 1 month to 8.3 years. The clinical phenotype consisted of a combination of symptoms, as reported before. We characterized a total of 45 distinct variants defining 45 distinct genotypes. Twenty-four were novel variants, some with distinct geographic associations. Remarkably, c.257A > G (p.H86R) was present in five out of 23 unrelated Egyptian individuals but in no patients from other countries. The most common genotype was homozygosity for the c.794_796del in-frame deletion. It was present in about one-third of CLN6 patients (28 unrelated cases, and 2 familial cases), all with late-infantile onset. Variants with a high likelihood of causing loss of CLN6 function were found in 21% of cases and made up 33% of all distinct variants. Forty-four percent of variants were classified as pathogenic or likely pathogenic. Conclusions Our study significantly expands the number of published clinical cases and the mutational spectrum of disease-associated CLN6 variants, especially for the Middle Eastern and North African regions. We confirm previous observations regarding the most prevalent symptoms and recommend including CLN6 in the genetic diagnosis of patients presenting with early-onset abnormalities of the nervous system, musculoskeletal system, and eye.

O objetivo deste estudo foi desenvolver e validar o instrumento checklist e matriz de avaliação do risco (CMAR) em desportos de montanha, nomeadamente, pedestrianismo, canyoning e escalada. O desenvolvimento do CMAR realizou-se mediante análise documental, revisão de literatura e consulta de especialistas. A validação de conteúdo do CMAR efetuou-se recorrendo à técnica Delphi, envolvendo 10 especialistas (idade: 35-58 anos, 42,30±7,70 anos; experiência na área: 17,00 ± 6,8 anos), e a validação de constructo recorrendo à análise fatorial exploratória, envolvendo 548 técnicos e praticantes de pedestrianismo (n:182), canyoning (n:183) e escalada (n:183). A 1|ª versão do CMAR revelou-se pertinente, clara e objetiva (ICCespecilaistas: 0,85-0,90) e incluiu 51 itens (fatores de risco) agrupados em 3 dimensões. A versão final do CMAR incluiu 36 itens estruturados em 4 dimensões (humana, materiais e equipamentos, ambiental, e segurança e emergência), a serem avaliados numa matriz de risco de 5x5 pontos (probabilidade x consequência), que resulta num nível de risco estratificado correspondente a uma recomendação, ação e tratamento (KMOmodelo: 0,816; variância justificada modelo: 56,4%). O CMAR evidenciou valores bons de confiabilidade e bons a aceitáveis de validação de construto, viabilizando a sua utilização na análise e gestão de risco nos desportos de montanha pedestrianismo, canyoning e escalada.

This study describes the first potential multi-species shark nursery area in Atlantic Africa (Sal Rei Bay – SRB, Boa Vista Island, Cabo Verde). From August 2016 to September 2019, 6162 neonates and juveniles of 5 different shark species were observed in SRB using beach gillnet-based bycatch surveys, namely milk (Rhizoprionodon acutus; n= 4908), scalloped hammerhead (Sphyrna lewini; n= 1035), blacktip (Carcharhinus limbatus; n=115), Atlantic weasel (Paragaleus pectoralis; n= 93) and nurse (Ginglymostoma cirratum; n= 12) sharks. Except for nurse sharks, significant seasonal variations in shark relative abundance were observed, with higher levels being recorded during summer and autumn. These findings, together with local knowledge (interviews to fishermen), denote the consistent use of SRB by juvenile sharks and its preference relative to other areas in the region. Ensuring the protection and conservation of SRB nursery area is especially relevant as, according to IUCN, all identified shark species are threatened with extinction over the near-future – in particular, scalloped hammerheads (critically endangered) and Atlantic weasel sharks (endangered). The effective protection of SRB will not only support the conservation of shark populations, but also of other charismatic fauna (e.g., loggerhead turtles) and broader benthic and pelagic ecosystems.

Abstract Background Multimodal forms of exercise can influence several physical and mental factors important for successful aging. In the present study, we introduce a new type of multimodal intervention, combining movement (creative dance) with traditional singing. This study aims to compare physical fitness, functional physical independence, depressive symptoms, general cognitive status, and daytime sleepiness among older adults participating in multimodal exercise, those participating in traditional physical exercise, and those not actively engaged in physical exercise. Methods This cross-sectional study included 112 people aged ≥ 65 years (75.3 ± 0.7 years) living independently in the community, divided into 3 groups: multimodal exercise (n = 34), traditional exercise (n = 41), and no physical exercise (n = 37). Results The multimodal exercise group showed greater flexibility of the lower limbs and upper limbs/shoulders and better general cognitive status than the traditional exercise group (p

Abstract Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) accumulates, leading to a multisystemic disease. Mucopolysaccharidosis VI induces reduced growth, coarse face, audiovisual deficits, osteoarticular deformities, and cardiorespiratory issues, hampering the quality of life of the patient. Enzyme replacement therapy with galsulfase (Naglazyme, BioMarin Pharmaceuticals Inc., USA) is the specific treatment for this condition. Although studies have shown that enzyme replacement therapy slows the progression of the disease, the effects of long-term enzyme replacement therapy remain poorly understood. Case presentation A 29-year-old, Caucasian, male patient diagnosed with mucopolysaccharidosis VI was treated with enzyme replacement therapy for over 15 years. Enzyme replacement therapy was initiated when patient was 13 years old. The patient evolved multiplex dysostosis, carpal tunnel syndrome, thickened mitral valve, and hearing and visual loss. Conclusions Although enzyme replacement therapy did not prevent the main signs of mucopolysaccharidosis VI, it slowed their progression. Additionally, enzyme replacement therapy was associated with a longer survival compared with the untreated affected sibling. Taken together, the results indicate that enzyme replacement therapy positively modified the course of the disease.

Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validity Framework for evaluation of GDR was applied. Most of the assessed genes were without a phenotype entry in the Online Mendelian Inheritance in Man (OMIM) database. Our Biodatabank with genetic data from over 670,000 previously tested individuals, in addition to data available in literature and public databases, were used for gene curation. Results: We confirmed 61 GDR (Definitive: 4 genes, Strong: 22 genes, Moderate: 35 genes). For 84 of 109 gene-disease pairs, a higher score was reached when using data from our Biodatabank in addition to externally obtainable data. This increased the final level of classification in 21 of the genes. Over 400 patients received a genetic report with clinically relevant variants in these 61 genes. Conclusion: Our results demonstrate the importance of careful assessment of gene clinical validity data, along with the use of genetic data repositories. Implementation of the ClinGen Clinical Validity Framework for assessment of GDR is relatively straightforward. We encourage diagnostic laboratories to implement such a system and contribute to closing the knowledge gap in genetic research and diagnostics.

Abstract Background Fall risk assessment in older people is of major importance for providing adequate preventive measures. Current predictive models are mainly focused on intrinsic risk factors and do not adjust for contextual exposure. The validity and utility of continuous risk scores have already been demonstrated in clinical practice in several diseases. In this study, we aimed to develop and validate an intrinsic-exposure continuous fall risk score (cFRs) for community-dwelling older people through standardized residuals. Methods Self-reported falls in the last year were recorded from 504 older persons (391 women: age 73.1 ± 6.5 years; 113 men: age 74.0 ± 6.1 years). Participants were categorized as occasional fallers (falls ≤1) or recurrent fallers (≥ 2 falls). The cFRs was derived for each participant by summing the standardized residuals (Z-scores) of the intrinsic fall risk factors and exposure factors. Receiver operating characteristic (ROC) analysis was used to determine the accuracy of the cFRs for identifying recurrent fallers. Results The cFRs varied according to the number of reported falls; it was lowest in the group with no falls (− 1.66 ± 2.59), higher in the group with one fall (0.05 ± 3.13, p

Abstract Background Falls and violence against older people might represent a joint public health problem, as both may result in injury, fear, social isolation, sedentary behavior and dependence or even death. The ESACA project “Aging safely in Alentejo - Understanding for action” was designed to promote the healthy aging of older people in Alentejo by preventing the occurrence of falls and violence. This study aimed to report the ESACA protocol and the preliminary outcomes. Methods The ESACA study has a twofold design as a cross-sectional study that included retrospective and prospective surveys. The participants were 508 community-dwelling older people. Assessments included falls, the risk of violence against older people, sociodemographic characteristics, health-related measurements, fear of falling, anthropometric measures and body composition, functional physical fitness, physical activity, and environmental hazards. Results Among the participants, 43% were fallers, 21% were recurrent fallers, and 22% were victims of one or more kinds of violence (psychological: 17.1%, physical: 5.6%, and patrimonial: 3.0%). Moreover, the cumulative results suggested high risk on several risk factors for falling (7 factors: 0.6% to 2 factors: 17.4%) and of violence (26.7%). Conclusions In the ESACA project, a wide range of potential influencing factors on falls and violence risk factors were measured, and comprehensive quality control measures were applied. Overall, the results suggest that for falls and violence prevention strategies to be effective, it is essential to evaluate, diagnose, and inform all stakeholders in a directed and useful way. Moreover, we believe that our project outcomes may help change mindsets and behaviors by involving people in active aging and well-being programs that promote exercise and avoid isolation.

Abstract Background Falls in older adults are considered a major public health problem. Declines in cognitive and physical functions, as measured by parameters including reaction time, mobility, and dual-task performance, have been reported to be important risk factors for falls. The aim of this study was to investigate the effects of two multimodal programs on reaction time, mobility, and dual-task performance in community-dwelling older adults at risk of falling. Methods In this randomized controlled trial, fifty-one participants (75.4 ± 5.6 years) were allocated into two experimental groups (EGs) (with sessions 3 times per week for 24 weeks), and a control group: EG1 was enrolled in a psychomotor intervention program, EG2 was enrolled in a combined exercise program (psychomotor intervention program + whole-body vibration program), and the control group maintained their usual daily activities. The participants were assessed at baseline, after the intervention, and after a 12-week no-intervention follow-up period. Results The comparisons revealed significant improvements in mobility and dual-task performance after the intervention in EG1, while there were improvements in reaction time, mobility, and dual-task performance in EG2 (p ≤ 0.05). The size of the interventions’ clinical effect was medium in EG1 and ranged from medium to large in EG2. The comparisons also showed a reduction in the fall rate in both EGs (EG1: -44.2%; EG2: − 63.0%, p ≤ 0.05) from baseline to post-intervention. The interventions’ effects on reaction time, mobility, and dual-task performance were no longer evident after the 12-week no-intervention follow-up period. Conclusions The results suggest that multimodal psychomotor programs were well tolerated by community-dwelling older adults and were effective for fall prevention, as well as for the prevention of cognitive and physical functional decline, particularly if the programs are combined with whole-body vibration exercise. The discontinuation of these programs could lead to the fast reversal of the positive outcomes achieved. Trial registration ClinicalTrials.gov Identifier: NCT03446352. Date of registration: February 07, 2018.

Abstract Background Fall risk assessment and determination of older adults’ individual risk profiles are crucial elements in fall prevention. As such, it is essential to establish cutoffs and reference values for high and low risk according to key risk factor outcomes. This study main objective was to determine the key physical fitness, body composition, physical activity, health condition and environmental hazard risk outcome cutoffs and interval reference values for stratified fall risk assessment in community-dwelling older adults. Methods Five-hundred community-dwelling Portuguese older adults (72.2 ± 5.4 years) were assessed for falls, physical fitness, body composition, physical (in) activity, number of health conditions and environmental hazards, and sociodemographic characteristics. Results The established key outcomes and respective cutoffs and reference values used for fall risk stratification were multidimensional balance (low risk: score > 33, moderate risk: score 32–33, high risk: score 30–31, and very high: score 44 kg, moderate risk: 42–44 kg, high risk: 39–41 kg, and very high: 42%); total physical activity (low risk: > 2800 Met-min/wk., moderate risk: 2300–2800 Met-min/wk., high risk: 1900–2300 Met-min/wk., and very high: 5 h/day); health conditions (low risk: n 5); and environmental hazards (low risk: n 8). Conclusions Assessment of community-dwelling older adults’ fall risk should focus on the above outcomes to establish individual older adults’ fall risk profiles. Moreover, the design of fall prevention interventions should manage a person’s identified risks and take into account the determined cutoffs and respective interval values for fall risk stratification.

Abstract Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the collection and visualization of CF data to extract additional biological significance and find novel therapeutic targets. Here, we present the CyFi-MAP—a disease map repository of CFTR molecular mechanisms and pathways involved in CF. Specifically, we represented the wild-type (wt-CFTR) and the F508del associated processes (F508del-CFTR) in separate submaps, with pathways related to protein biosynthesis, endoplasmic reticulum retention, export, activation/inactivation of channel function, and recycling/degradation after endocytosis. CyFi-MAP is an open-access resource with specific, curated and continuously updated information on CFTR-related pathways available online at https://cysticfibrosismap.github.io/ . This tool was developed as a reference CF pathway data repository to be continuously updated and used worldwide in CF research.

IntroductionHistorically considered to be a single cosmopolitan species, the so called Octopus vulgaris species complex (OVSC) is now recognized to be a group of (at least) six cryptic species: O. americanus (in the west Atlantic), O. vulgaris (in the northeast Atlantic and Mediterranean Sea), O. aff. vulgaris (in the region of South Africa), O. tetricus (southeastern Oceania), O. sinensis (northwestern Pacific), and O. djinda (western Australia). The potentially different environmental preferences of this highly cryptic species complex may result in distinct consequences under future environmental conditions.MethodsThe present study employed species distribution models (SDM) using MaxEnt to investigate potential changes in habitat suitability and geographical distribution of the OVSC in the future (i.e., 2050, and 2100), across four representative concentration pathway scenarios (RCP-2.6, 4.5, 6.0, and 8.5, CMIP5).ResultsDifferential responses were observed in the OVSC species analyzed. Specifically, O. vulgaris and O. tetricus exhibited a severe loss in distribution across their predicted range; O. americanus exhibited projected extirpation close to the equator, with limited expansion towards the poles; O. aff. vulgaris was projected to lose half of its current distribution; O. sinensis exhibited moderate losses, with projected increases in northern areas; and finally, O. djinda exhibited limited losses to its distribution. Except for O. sinensis, increasing RCP severity exacerbated changes in mean habitat suitability and projected distribution gains and losses.DiscussionUltimately, this study provides information on the potential biogeographical effects of marine climate change on a key worldwide ecological and economic resource to further disentangle the effects over each OVSC species, with the goal of assisting toward the sustainable management of octopus species at the global scale.

Polygonum maritimum L. (sea knotgrass) belongs to a genus commonly used in folk medicine to treat inflammation-related disorders. In vitro pharmacological studies have confirmed these properties that were ascribed to bioactive flavonoids, such as myricetin and quercetin glycosides. Therefore, this study aimed at establishing a micropropagation procedure for sea knotgrass for obtaining standardized materials for its potential commercial cultivation. For that, a complete plant regeneration protocol was developed by improving shoot multiplication from nodal explants, rooting and acclimatization procedures, followed by the assessment of the phenolic profile of the in vitro-produced plants. The combination of 3 mg/L 6-benzylaminopurine (BA) + 0.1 mg/L indole-3-acetic acid (IAA) induced the maximum shoot formation (10.3), which was significantly increased from the first to the second cycle (18.3). The best rooting capacity was observed on shoots derived from the control medium (100%), followed by 2 mg/L kinetin (KIN) (97%) and 3 mg/L BA + 0.1 mg/L IAA (90%); however, the shoot number at the end of the rooting phase was higher on shoots derived from 3 mg/L BA + 0.1 mg/L IAA (6.16). The plant growth regulators used in the multiplication phase influenced survival in the acclimatization process, and plants derived from the control medium had the highest survival percentage (63.1%). Acetone extracts made from aerial organs of micropropagated sea knotgrass showed a predominance of the flavonoid myricetin-3-O-rhamnoside (8.135 mg/g). Overall, the halophyte sea knotgrass was successfully micropropagated showing its potential as a medicinal crop for the extraction of bioactive molecules.

In Portugal, there are four venomous species, the horned viper (Vipera latastei), seoane (Vipera seoanei), rat snake (Malpolon monspessulanus), and the hooded snake (Macroprotodon brevis ibericus), and in the UK, there is one: the common European adder (Vipera berus). Snake venom is a complex mixture of toxins whose composition varies depending on the family, genera, species, and even subspecies. In Europe, particularly Portugal, there are no published data on the frequency of these types of incidents, but it is estimated to be high, mainly in dogs. Thus, to characterize the injuries caused by the bite of venomous snakes in domestic animals, the authors describe cases in dogs, cats, and goats with a suspected snakebite. Animals presented wounds compatible with snakebites, with two points 1 to 1.8 cm apart that could be noted on the head or limbs. The main clinical signs observed included pain, oedema, and necrosis. From the animals that died, a post-mortem examination revealed subcutaneous and muscular necrosis and hemorrhages of surrounding tissues, including muscles and organic hemorrhages. The severity of envenomation depends on the quantity of inoculated venom; the species, age, size, and previous state of health of the bitten animal; the bite location; and post-bite excitability. With this study, the authors hope to help improve the knowledge regarding snakebites in Europe.

The outermost layer of the epidermis, the stratum corneum (SC), ensures protection against harmful xenobiotics, and alterations in its lipidic matrix composition are related to several cutaneous dysfunctions. The skin barrier function is usually attributed to ceramides, but the role of free fatty acids, such as stearic acid, has been increasingly acknowledged. This research work aimed to develop solid lipid nanoparticles (SLN) and nanostructured lipid carriers (NLC) based on stearic acid and glyceryl distearate, in order to explore the potential of these materials as the basis of lipid nanoparticles. Different blends of stearic acid, Precirol® ATO 5, Capryol® 90 and Tween® 80 were probed to prepare SLN and NLC. These lipid nanoparticles were further characterised according to particle size, polydispersity index (PDI), pH, and viscosity. Accelerated and long-term stability tests were also performed for 90 days, as well as in vivo assays to evaluate safety and efficacy. Overall, most nanoparticles showed interesting properties for topical application if they had sizes less than 300 nm, PDI below 0.3, pH compatible with skin and viscosity lower than 5 mPa.s. In long-term stability studies, the SLN_2 and NLC_2 formulations stood out, as they remained stable over time. In vivo biocompatibility tests conducted in human volunteers showed no negative impact of the formulations when applied openly or under occlusion. Efficacy studies with the most stable nanoparticles made of Precirol® ATO 5 showed an increase in skin hydration. The nanoparticles developed in this study have shown potential to be used for cosmetic purposes, and the blend of lipids provided good biocompatibility and moisturising properties.

Mushroom extracts have shown potential as a source of new antimicrobial agents. This study investigates the chemical profile of an aqueous ammonia extract obtained from the carpophores of Ganoderma lucidum, which grows on Quercus ilex trees, and explores its valorization as a biorational. The major chemical constituents of the extract, identified through gas chromatography–mass spectrometry, include acetamide, oleic acid, 1,2,3,4-butanetetrol, monomethyl azelate, undecane, and palmitic acid. The anti-oomycete and antifungal activity of G. lucidum extract was evaluated against Phytophthora cinnamomi, the primary threat to Quercus spp. in the dehesa biome, as well as three Botryosphaeriaceae fungi. In vitro tests revealed minimum inhibitory concentration (MIC) values of 187.5 μg·mL−1 against P. cinnamomi and 187.5–1000 μg·mL−1 against the fungi. Furthermore, conjugation of the G. lucidum extract with chitosan oligomers (COS) synergistically enhanced its antimicrobial activity, resulting in MIC values of 78.12 and 375–500 μg·mL−1 against P. cinnamomi and the fungi, respectively. These MIC values are among the highest reported to date for natural products against these phytopathogens. Subsequent ex situ testing of the COS-G. lucidum conjugate complex on artificially inoculated Q. ilex excised stems resulted in high protection against P. cinnamomi at a dose of 782 µg·mL−1. These findings support the potential utilization of this resource from the dehesa ecosystem to protect the holm oak, aligning with sustainable and circular economy approaches.

Introdução – As lentes ICL (Implantable Collamer Lens) são uma alternativa aos procedimentos refrativos mais convencionais. O seu implante pode desencadear complicações, que podem ser minimizadas se forem efetuadas medições pré e pós-operatórias fiáveis. O objetivo deste estudo é analisar a variabilidade interoperador das medições pré e pós-operatórias, utilizando imagens obtidas através de tomografia de coerência ótica do segmento anterior. Métodos – Utilizando o equipamento SD-OCT Spectralis®, dois ortoptistas mediram o diâmetro inter esporão escleral, o diâmetro pupilar e o vault, em 60 imagens de 30 olhos implantados com lentes ICL. Para a análise estatística foram utilizadas estatísticas descritivas, o teste t para o valor médio para amostras independentes, tendo-se ainda calculado o coeficiente de correlação intraclasse. Foram ainda construídos gráficos de dispersão de Bland-Altman Plot. Resultados – Avaliando o coeficiente de correlação intraclasse, todas as medições em estudo apresentaram uma concordância excelente entre os dois operadores. No teste t observaram-se diferenças estatisticamente significativas entre os dois operadores, apenas para as medições do vault, com possível impacto clínico. Quanto às medidas de diâmetro inter esporão escleral, apesar da ausência de diferenças estatisticamente significativas, existiram algumas diferenças com significância clínica que devem ser corrigidas no futuro. Conclusões – Diferenças de medição interoperador devem ser avaliadas estatisticamente, mas também clinicamente, pois apesar da ausência de diferenças estatisticamente significativas o seu impacto clínico deve ser avaliado, ponderado e, quando necessário, corrigido.

Introdução: As crianças e adolescentes com perturbação de hiperatividade e défice de atenção (PHDA) poderão apre- sentar um agravamento comportamental devido à pandemia e respetivas consequências. Por outro lado, a diminuição da imposição, em contexto de sala de aula, no sentido de exibirem um bom comportamento e realizarem as tarefas, poderá levar a melhoria sintomática. O objetivo do estudo foi avaliar a perceção dos cuidadores de crianças e adolescentes com PHDA em relação ao impacto da pandemia no seu comportamento, emoções e rotinas. Métodos: Foram inquiridos 40 cuidadores de crianças e adolescentes com diagnóstico de PHDA recorrendo aos seguintes instrumentos: Questionário de dados sociodemográficos e clínicos; Questionário para avaliação do impacto da COVID‐19 nos pais e nos filhos e Conners Parent Rating Scale Revised – Versão reduzida (CPRSR). Resultados: No que toca à perceção dos cuidadores acerca das alterações comportamentais da criança, a maioria denotou uma melhoria na agitação e seguimento de instruções e um maior agravamento na ansiedade e na tolerância à frustração. A nível da perceção dos cuidadores relativamente ao confinamento, denotou‐se agravamento mais significativo do stress parental, da irritabilidade e da ansiedade dos progenitores. Quanto à relação entre o agravamento comportamental das crianças com diagnóstico PHDA durante a pandemia e as dimensões avaliadas pela CPRSR, destaca‐se as associações positivas e estatisticamente significativas entre o agravamento global da criança e do adolescente percecionado pelos cui- dadores e as dimensões oposição, atividade motora e índice de PHDA. Relativamente às diferenças entre o agravamento comportamental e emocional das crianças e adolescentes, em função do agravamento das variáveis pessoais e ambientais do cuidador, verifica‐se que o grupo de crianças/adolescentes cujos pais reportaram um agravamento da sua própria ansiedade, tristeza, stress parental e das dificuldades na relação entre os diferentes membros da família na quarentena, apresenta níveis mais elevados de agravamento comportamental e emocional. Conclusão: Consideramos que este estudo vem demonstrar a importância da intervenção dos serviços de saúde mental em crianças e adolescentes com PHDA, durante a pandemia COVID‐19.

SO2 is a preservative often used in the food industry, particularly in the wine industry. However, regulatory authorities and consumers have been strongly suggesting its reduction or even its replacement. In order to understand the impact of SO2 on the profiles of volatile organic compounds (VOCs) as well as amino acids (AAs), the aging of two white wines (one being a varietal and another being a blend) under identical conditions and in the presence of different doses of total SO2 was studied. After alcoholic fermentation (t = 0), either no SO2 was added (0 mg/L), or 30, 60, 90, or 120 mg/L of SO2 was applied. The samples under study were kept on fine lees for 3 months (t = 3). After 3 months (t = 6) and 9 months (t = 12), the wines were bottled and analyzed. For t = 0 and t = 3, the samples were submitted to HS-SPME-GC/MS for VOC analysis and LC-DAD for AA analysis. From the principal component analysis of the detected VOCs, it was observed that the blended wine in comparison with the varietal wine, was less impacted by the applied SO2 doses and aging time. From the AA profile, it was also observed in this study that maturation on fine lees resulted in an increase in the total concentration of AAs as would be expected.

Climate change is leading to the loss of oxygen content in the oceans and endangering the survival of many marine species. Due to sea surface temperature warming and changing circulation, the ocean has become more stratified and is consequently losing its oxygen content. Oviparous elasmobranchs are particularly vulnerable as they lay their eggs in coastal and shallow areas, where they experience significant oscillations in oxygen levels. Here, we investigated the effects of deoxygenation (93% air saturation) and hypoxia (26% air saturation) during a short-term period (six days) on the anti-predator avoidance behavior and physiology (oxidative stress) of small-spotted catshark (Scyliorhinus canicula) embryos. Their survival rate decreased to 88% and 56% under deoxygenation and hypoxia, respectively. The tail beat rates were significantly enhanced in the embryos under hypoxia compared to those exposed to deoxygenation and control conditions, and the freeze response duration showed a significant opposite trend. Yet, at the physiological level, through the analyses of key biomarkers (SOD, CAT, GPx, and GST activities as well as HSP70, Ubiquitin, and MDA levels), we found no evidence of increased oxidative stress and cell damage under hypoxia. Thus, the present findings show that the projected end-of-the-century deoxygenation levels elicit neglectable biological effects on shark embryos. On the other hand, hypoxia causes a high embryo mortality rate. Additionally, hypoxia makes embryos more vulnerable to predators, because the increased tail beat frequency will enhance the release of chemical and physical cues that can be detected by predators. The shortening of the shark freeze response under hypoxia also makes the embryos more prone to predation.

Transfersomes have been highlighted as an interesting nanotechnology-based approach to facilitate the skin delivery of bioactive compounds. Nevertheless, the properties of these nanosystems still need to be improved to enable knowledge transfer to the pharmaceutical industry and the development of more efficacious topical medicines. Quality-by-design strategies, such as Box–Behnken factorial design (BBD), are in line with the current need to use sustainable processes to develop new formulations. Thus, this work aimed at optimizing the physicochemical properties of transfersomes for cutaneous applications, by applying a BBD strategy to incorporate mixed edge activators with opposing hydrophilic–lipophilic balance (HLB). Tween® 80 and Span® 80 were used as edge activators and ibuprofen sodium salt (IBU) was selected as the model drug. After the initial screening of the IBU solubility in aqueous media, a BBD protocol was implemented, and the optimized formulation displayed appropriate physicochemical properties for skin delivery. By comparing the optimized transfersomes to equivalent liposomes, the incorporation of mixed edge activators was found to be beneficial to upgrade the storage stability of the nanosystems. Furthermore, their cytocompatibility was shown by cell viability studies using 3D HaCaT cultures. Altogether, the data herein bode well for future advances in the use of mixed edge activators in transfersomes for the management of skin conditions.

Preparations of the Cymbopogon citratus leaves are used in folk medicine for the treatment of inflammatory processes. The present study investigated the proposed anti-inflammatory properties of C. citratus essential oil (EOCC) in human skin in vivo using the methylnicotinate (MN) microinflammation skin model. Skin exposure to MN causes a disturbance that triggers the production of reactive oxygen species and evokes a short duration microinflammatory reaction that might be explored to meet this objective. Fourteen participants of both sexes were selected after providing informed consent. Three areas (3 cm × 3 cm) were drawn on both forearms. One randomly chosen area was treated for 14 days, twice a day, with a polyacrylic acid gel containing 5% EOCC. Remaining areas were used as controls. Results revealed a clear protective effect at the EOCC-treated site. The MN reaction showed significantly lower transepidermal water loss, blood perfusion, erythema, and edema when compared with the other areas. Furthermore, the methodology here proposed is an innovative approach to study the clinical impact of these substances on human skin, contributing to an evidence-based support regarding the interest of using these products in human health.

Cardiothoracic surgery patients have the risk of developing surgical site infections which cause hospital readmissions, increase healthcare costs, and may lead to mortality. This work aims to tackle the problem of surgical site infections by predicting the existence of worrying alterations in wound images with a wound image analysis system based on artificial intelligence. The developed system comprises a deep learning segmentation model (MobileNet-Unet), which detects the wound region area and categorizes the wound type (chest, drain, and leg), and a machine learning classification model, which predicts the occurrence of wound alterations (random forest, support vector machine and k-nearest neighbors for chest, drain, and leg, respectively). The deep learning model segments the image and assigns the wound type. Then, the machine learning models classify the images from a group of color and textural features extracted from the output region of interest to feed one of the three wound-type classifiers that reach the final binary decision of wound alteration. The segmentation model achieved a mean Intersection over Union of 89.9% and a mean average precision of 90.1%. Separating the final classification into different classifiers was more effective than a single classifier for all the wound types. The leg wound classifier exhibited the best results with an 87.6% recall and 52.6% precision.

AbstractBackground Hereditary Transthyretin-Related Amyloidosis, a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene, is characterized by the deposition of insoluble misfolded protein fibrils. The diagnosis, especially in non-endemic areas, is typically delayed by 4–5 years; a misdiagnosis due to clinical heterogeneity is common. The study objective was to define the prevalence of Hereditary Transthyretin-Related Amyloidosis in patients with polyneuropathy and/or cardiomyopathy of no obvious aetiology.Method A multicenter observational “Epidemiological analysis for the hereditary Transthyretin-Related AMyloidosis”—TRAM study was performed in Germany, Austria, and Switzerland.Results A total of 5141 participants were recruited by 50 neurologic and 27 cardiologic specialized centres. Genetic analysis demonstrated a 1.1% Hereditary Transthyretin-Related Amyloidosis positivity rate among patients with polyneuropathy and/or cardiomyopathy of not obvious aetiology. Twenty-one various TTR variants (TTR-positive) were identified. Body Mass Index was lower in the TTR-positive patients as an indicator for the involvement of the autonomic nervous system; the age of onset of clinical manifestations was higher in TTR-positive patients. There were no other genotype-phenotype correlations or the prevalence of specific clinical manifestations in TTR-positive patients.Conclusions Our data support the fact that Hereditary Transthyretin-Related Amyloidosis is underdiagnosed in polyneuropathy and cardiomyopathy patients. Routine implementation of genetic testing is recommended in patients with unexplained polyneuropathy and/or cardiomyopathy to accelerate the earlier diagnosis and the time-sensitive treatment initiation.KEY MESSAGESMore than 5.000 participants with CM and/or PNP of no obvious aetiology were recruited in the observational “Epidemiological analysis for the hereditary Transthyretin-Related AMyloidosis” TRAM study and screened for pathogenic TTR variants.The study demonstrated >1% of patients with CM and/or PNP of unclear aetiology are positive for a pathogenic TTR variant.Routine genetic testing is recommended in patients with unexplained CM and/or PNP to accelerate the initial diagnosis and timely treatment initiation.

Abstract Background Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations. Case presentation The infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure. Conclusion The accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.

Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical features with lamin-associated progeroid syndromes.

Introduction Fifth metacarpal neck fractures are extremely common, but there is still no consensus regarding the ideal course of treatment. Volar angulation and shortening are decisive factors; however, there is still controversy about the cut-off values that translate into worse clinical results. The present study aims to answer these questions in order to provide additional data to aid in the clinical practice and decision making. Materials and Methods A retrospective study evaluated patients with fifth metacarpal fractures treated between 2013 and 2018. A total of 133 patients were included, with an average follow-up of 2 months. Surgery was performed in 21 patients, and 112 were treated conservatively. The radiological assessment of volar anguation and shortening was based in the first and last radiographs of the follow-up. The patients were contacted and submited to a questionnaire that included the Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) score and subjective evaluations of pain (Visual Analogue Scale, VAS), hand strength, stiffness and finger mobility, and cosmetic result. Results Surgery was more successful in reducing angulation than the conservative treatment, achieving more anatomic final values for angulation and shortening (p 60° and final angulations > 50° were associated with worse cosmetic results (p = 0,039). Final shortening > 4 mm translated into a higher notion of stiffness and limited finger mobility (p = 0.034). More advanced age showed a correlation with higher scores on the VAS (p = 0.023) and QuickDASH (p

Aiming to develop a sustainable methodology for must acidity correction in winemaking, particularly needed in warm regions, the present study intends to fulfill the circular economy values. Antão Vaz white wines were produced using two different strategies for must acidity correction: (i) the addition of a mixture of organic acids (Mix*) commonly used in winemaking; and (ii) the addition of previously produced unripe grape must (UM*) from the same grape variety. In addition, a testimonial (T*) sample was produced with no acidity correction. For all wines produced, oenological parameters were determined, and both amino acid (AA) content and volatile composition were evaluated. A higher AA content was found in the Antão Vaz T* wine, followed by UM* wines. The volatile profile was also affected, and LDA demonstrates a clear separation of wines with different acidity corrections. Results obtained indicate that unripe grape musts—a vital waste product containing several compounds with important biological activity—can be used to increase musts acidity without a negative impact on wine characteristics. Furthermore, this work also shows that the use of unripe must may be a valuable tool for reducing the alcoholic content of wines.

Despite the long evolutionary history of this group, the challenges brought by the Anthropocene have been inflicting an extensive pressure over sharks and their relatives. Overexploitation has been driving a worldwide decline in elasmobranch populations, and rapid environmental change, triggered by anthropogenic activities, may further test this group's resilience. In this context, we searched the literature for peer-reviewed studies featuring a sustained (>24 h) and controlled exposure of elasmobranch species to warming, acidification, and/or deoxygenation: three of the most pressing symptoms of change in the ocean. In a standardized comparative framework, we conducted an array of mixed-model meta-analyses (based on 368 control-treatment contrasts from 53 studies) to evaluate the effects of these factors and their combination as experimental treatments. We further compared these effects across different attributes (lineages, climates, lifestyles, reproductive modes, and life stages) and assessed the direction of impact over a comprehensive set of biological responses (survival, development, growth, aerobic metabolism, anaerobic metabolism, oxygen transport, feeding, behavior, acid-base status, thermal tolerance, hypoxia tolerance, and cell stress). Based on the present findings, warming appears as the most influential factor, with clear directional effects, namely decreasing development time and increasing aerobic metabolism, feeding, and thermal tolerance. While warming influence was pervasive across attributes, acidification effects appear to be more context-specific, with no perceivable directional trends across biological responses apart from the necessary to achieve acid-base balance. Meanwhile, despite its potential for steep impacts, deoxygenation has been the most neglected factor, with data paucity ultimately precluding sound conclusions. Likewise, the implementation of multi-factor treatments has been mostly restricted to the combination of warming and acidification, with effects approximately matching those of warming. Despite considerable progress over recent years, research regarding the impact of these drivers on elasmobranchs lags behind other taxa, with more research required to disentangle many of the observed effects. Given the current levels of extinction risk and the quick pace of global change, it is further crucial that we integrate the knowledge accumulated through different scientific approaches into a holistic perspective to better understand how this group may fare in a changing ocean.

Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa enzyme replacement treatment (ERT) mineralizes the skeleton and improves respiratory function and survival in severe forms of HPP. Our patient was a newborn infant evaluated for respiratory failure and generalized hypotonia after birth. Diagnosis of HPP was based on low-serum ALP activity, high concentrations of substrates of the TNSALP and radiologic findings. On day 21 after birth, ERT using asfotase alfa (2 mg/kg three times per week, subcutaneous injection) was started. His respiratory support was gradually reduced and skeletal mineralization improved during treatment. We were able to discharge the patient when he was seven months old. No mutation was detected in the ALPL gene by all exon sequencing, and additional analysis was done by quantitative polymerase chain reaction (qPCR). As a result, a novel homozygote duplication encompassing exons 2 to 6 was detected. Early diagnosis and rapid intervention with ERT is life-saving in the severe form of HPP. qPCR can detect duplications if a mutation cannot be detected by sequence analysis in these patients.

Abstract Toxoplasma gondii and Leishmania infantum are zoonotic protozoal parasites. Serum samples were obtained from 186 donkeys (Equus africanus asinus) from Portugal and assessed for antibodies to T. gondii by the modified agglutination test (MAT). For titration of antibodies to Leishmania spp. the direct agglutination test was used (DAT). Eleven donkeys were seropositive for T. gondii with titres of 20 (n = 7), 80 (n = 2), 640 (n = 1) and ≥ 2560 (n = 1). One donkey was seropositive for Leishmania spp. (titre of 800). Donkeys in Portugal are exposed to and can be infected with T. gondii and Leishmania spp.

Enquadramento: o Modelo Dinâmico de Avaliação e Intervenção Familiar (MDAIF) é um referencial teórico e operativo que pretende dar resposta às necessidades dos enfermeiros no cuidado às famílias. Objetivo: avaliar os ganhos em saúde sensíveis aos cuidados de enfermagem prestados por estudantes colaborativamente com as famílias segundo o MDAIF. Metodologia: trata-se de um estudo descritivo, transversal, de natureza quantitativa, com uma amostra de conveniência, constituída por 35 famílias. A colheita de dados foi realizada a partir dos registos de enfermagem dos cuidados prestados às famílias, sujeitos posteriormente a análise descritiva. Resultados: o MDAIF permitiu aos estudantes obter em ganhos em saúde junto das famílias. Dos diagnósticos formulados destacam-se pela prevalência os da dimensão do desenvolvimento, seguidos dos da dimensão funcional e finalmente os da dimensão estrutural. Registaram-se ganhos em saúde sensíveis aos cuidados de enfermagem em todas as áreas de atenção das dimensões, com uma modificação positiva no estado dos diagnósticos de enfermagem de 80,8% do antes para após a intervenção. Conclusão: os estudantes de enfermagem, fundamentados no MDAIF, avaliaram e interviram colaborativamente com as famílias, obtendo ganhos em saúde familiar. Recomenda-se a disseminação generalizada do MDAIF no cuidado às famílias.

There has been an increasing interest in using nanomaterials to develop innovative delivery systems [...]

Abstract Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. The four types of MPS III are recognized in accordance with the deficient enzyme, resulting in the accumulation of heparan sulfate with particularly deleterious effects in the central nervous system. The incidence of MPS III remains to be established in Latin American countries. We describe the journey of a patient with MPS IIIB whom, even in the presence of speech delay and deterioration, behavioral problems and motor incoordination, showed unaltered urinary glycosaminoglycans (GAGs) levels. An investigation for MPS was undertaken and enzyme analysis indicated a deficiency of alpha-N-acetylglucosaminidase, leading to the diagnosis of MPS IIIB. With the correct diagnosis, the patient’s symptoms could be properly managed, and the parents received appropriate genetic counseling. The present case report reinforces the need of investigating MPS III in patients with language delay and/or regression, neurological impairment and behavioral alterations, even when urinary GAGs are within normal range. A definitive diagnosis ends the diagnostic journey and enables the medical team and family to provide a better care for the child.

The stepping-forward affordance perception test (SF-APT) fills an important gap within the screening of falls risk factors by considering the perception of affordances. The test showed to be a valid instrument for community-dwelling older adults falls risk assessment. The present study aimed to distinguish and test the key outcomes of the SF-APT usable for falls risk assessment in community-dwelling older adults to determine the respective cut-offs. This cross-sectional study enrolled 347 participants (73.1 ± 6.2 years; non-fallers: 57.9%; fallers: 42.1%; recurrent-fallers: 17.9%). Falls occurrence and SF-APT outcomes were assessed. Analyses were performed using multivariate binary logistic regression analysis and receiver operating characteristic (ROC). The area under the ROC curve was computed (AUC) for each built model explaining falling or recurrent falling. Results distinguished the Estimated stepping-forward, and Absolute-error in interaction with Error-tendency as the SF-APT key outcomes for falls risk assessment [AUCfalling: 0.665 (CI 95%: 0.608-0.723); AUCfalling recurrently: 0.728 (CI 95%: 0.655-0.797)]. Computed cut-offs' analysis showed that (i) a boundary stepping-forward estimation >58 cm plus an underestimation bias >5 cm (>42nd percentile) avoid older adults to be recurrent-fallers, and (ii) a boundary stepping-forward estimation >62 cm plus an underestimation bias >6 cm (>54th percentile) avoid older adults to be fallers. In conclusion, results suggest that SF-APT is a valuable tool for falls risk assessment in community-dwelling older adults. Interventions targeting the prevention of falls should consider the above key outcomes and the respective cut-offs as alert red-flags.

The human epidermis has a characteristic lipidic composition in the stratum corneum, where ceramides play a crucial role in the skin barrier homeostasis and in water-holding capacity. Several skin diseases, such as atopic dermatitis and psoriasis, exhibit a dysfunction in the lipid barrier with altered ceramide levels and increased loss of transepidermal water. Glucocorticoids are normally employed in the therapeutical management of these pathologies. However, they have shown a poor safety profile and reduced treatment efficiency. The main objective of this review is to, within the framework of the limitations of the currently available therapeutical approaches, establish the relevance of nanocarriers as a safe and efficient delivery strategy for glucocorticoids and ceramides in the topical treatment of skin disorders with barrier impairment.

Ionic liquids (ILs) have increasingly been studied as key materials to upgrade the performance of many pharmaceutical formulations. In controlled delivery systems, ILs have improved multiple physicochemical properties, showing the relevance of continuing to study their incorporation into these formulations. Transfersomes are biocompatible nanovesicular systems, quite useful in controlled delivery. They have promising characteristics, such as elasticity and deformability, making them suitable for cutaneous delivery. Nonetheless, their overall properties and performance may still be improved. Herein, new TransfersomILs systems to load rutin were developed and the physicochemical properties of the formulations were assessed. These systems were prepared based on an optimized formulation obtained from a Box–Behnken factorial design (BBD). The impact of imidazole-based ILs, cholinium-based ILs, and their combinations on the cell viability of HaCaT cells and on the solubility of rutin was initially assessed. The newly developed TransfersomILs containing rutin presented a smaller size and, in general, a higher association efficiency, loading capacity, and total amount of drug release compared to the formulation without IL. The ILs also promoted the colloidal stability of the vesicles, upgrading storage stability. Thus, ILs were a bridge to develop new TransfersomILs systems with an overall improved performance.