Madeira

INTRODUCTION: Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data. OBJECTIVE: To describe bone characteristics in a large CGL1 and 2 case series. METHODS: Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil...

BACKGROUND: Dietary composition can modify gene expression, favoring the development of chronic diseases via epigenetic mechanisms. OBJECTIVE: Our study aimed to investigate the relationship between dietary patterns and NR3C1 gene methylation in users of the Brazilian Public Unified Health System (SUS). METHODS: We recruited 250 adult volunteers and evaluated their socioeconomic status, psychosocial characteristics, lifestyle, and anthropometrics...

Despite providing important ecosystem services, termites are also serious pests of wooden structures. Termites are highly adaptive organisms that cause concern as an invasive species. Predictions of the future spread of their distribution range due to factors such as climate change, urban growth, and global trade present new challenges to our capacity to protect our wood and wood-based materials and structures effectively. Reticulitermes grassei Clément, 1978 (Blattodea: Rhinotermitidae) is a subterranean termite native to the Iberian Peninsula and France, whose global distribution has widened over recent years...

INTRODUCTION AND OBJECTIVES: Idiopathic ventricular fibrillation (IVF) is diagnosed in patients who survive sudden cardiac arrest (SCA), preferably with documented ventricular fibrillation (VF), without any identifiable structural or electrical abnormality. Current evidence provides limited guidance on the diagnosis and follow-up of these patients. Our aim was to assess the clinical outcomes of survivors of an aborted SCA attributed to IVF. METHODS: We retrospectively collected clinical data from all patients who survived SCA and implanted a cardiac defibrillator (ICD) between 2005 and 2023...

Whipple's disease is a multisystemic chronic infectious condition caused by Tropheryma whipplei ( T. whipplei ). Though characterised often by insidious weight loss, diarrhoea, and arthralgia, three other distinct manifestations can be observed, namely localised disease, acute infection and asymptomatic carriage. The diagnosis relies on histopathological examination of duodenal biopsies and polymerase chain reaction analysis of the 16S rRNA gene for T. whipplei. We report the case of a middle-aged man admitted for etiologic investigation of prolonged, migrating, and inflammatory arthralgias and subsequent development of gastrointestinal symptoms...

Protein evolution is constrained by structure and function, creating patterns in residue conservation that are routinely exploited to predict structure and other features. Similar constraints should affect variation across individuals, but it is only with the growth of human population sequencing that this has been tested at scale. Now, human population constraint has established applications in pathogenicity prediction, but it has not yet been explored for structural inference. Here, we map 2.4 million population variants to 5885 protein families and quantify residue-level constraint with a new Missense Enrichment Score (MES)...

The EMBL-EBI Job Dispatcher sequence analysis tools framework (https://www.ebi.ac.uk/jdispatcher) enables the scientific community to perform a diverse range of sequence analyses using popular bioinformatics applications. Free access to the tools and required sequence datasets is provided through user-friendly web applications, as well as via RESTful and SOAP-based APIs. These are integrated into popular EMBL-EBI resources such as UniProt, InterPro, ENA and Ensembl Genomes. This paper overviews recent improvements to Job Dispatcher, including its brand new website and documentation, enhanced visualisations, improved job management, and a rising trend of user reliance on the service from low- and middle-income regions...

Sub-mesoscale and mesoscale (i.e., 1-10 km and 10-200 km, respectively) ocean processes are highly relevant for the understanding of global circulation, mixing of water masses and energy exchange between ocean layers. However, the processes happening at these scales are hard to be characterized using direct measurements of temperature and salinity. Direct measurements are obtained from vertical probes and/or autonomous vehicles, which, despite their high vertical resolution, are sparsely located in space and therefore unable to capture spatial details at these scales...

INTRODUCTION: The prevalence of alpha-1 antitrypsin deficiency (AATD) in Macaronesia (i.e., Azores, Madeira, Canary Islands and Cape Verde archipelagos) is poorly known. Our goal is to update it by selecting the most reliable available articles. METHOD: Literature search using Medline, EMBASE (via Ovid) and Google Scholar, until December 2023, for studies on prevalence of AATD in the general population and in screenings, published in peer-reviewed journals. RESULTS: Three studies carried out in the general population of Madeira, La Palma and Cape Verde, and three screenings carried out in La Palma (2) and Gran Canaria (1) were selected...

BACKGROUND: Takotsubo syndrome (TTS) mimics acute coronary syndromes but can lead to serious cardiac complications, emphasizing the need for improved understanding and management. CASE SUMMARY: We describe a TTS case presented with cardiogenic shock due to ventricular septal rupture (VSR). Successful treatment involved mechanical circulatory support followed by VSR surgical closure. DISCUSSION: Ventricular septal rupture is the rarest and deadliest complication associated with TTS...

BACKGROUND: Advance directives (ADs) were implemented in Portugal in 2012. Although more than a decade has passed since Law 25/2012 came into force, Portuguese people have very low levels of adherence. In this context, this study aimed to identify and analyse the attitudes of people aged 18 or older living in Portugal towards ADs and to determine the relationships between sociodemographic variables (gender/marital status/religion/level of education/residence/whether they were a health professional/whether they had already drawn up a living will) and people's attitudes towards ADs...

BACKGROUND: Ecological segregation allows populations to reduce competition and coexist in sympatry. Using as model organisms two closely related gadfly petrels endemic to the Madeira archipelago and breeding with a two month allochrony, we investigated how movement and foraging preferences shape ecological segregation in sympatric species. We tested the hypothesis that the breeding allochrony is underpinned by foraging niche segregation. Additionally, we investigated whether our data supported the hypothesis that allochrony is driven by species-specific adaptations to different windscapes...

Sacoglossa sea slugs have garnered attention due to their ability to retain intracellular functional chloroplasts from algae, while degrading other algal cell components. While protective mechanisms that limit oxidative damage under excessive light are well documented in plants and algae, the photoprotective strategies employed by these photosynthetic sea slugs remain unresolved. Species within the genus Elysia are known to retain chloroplasts from various algal sources, but the extent to which the metabolic processes from the donor algae can be sustained by the sea slugs is unclear...

BACKGROUND: In 2015, a quality improvement project called "Adequate Childbirth Project" (PPA) was implemented in Brazilian private hospitals in order to reduce cesarean sections without clinical indication. The PPA is structured in four components, one of which is directed at women and families. The objective of this study is to evaluate the effects of PPA on women's preference for vaginal birth (VB) at the end of pregnancy. METHODS: Evaluative research conducted in 12 private hospitals participating in the PPA...

Mercury (Hg) is a chemical element that poses risks to human health due to its high toxicity and environmental persistence. We determined the total Hg (THg) and methyl Hg (MeHg) concentrations in hair samples from residents of the Demarcação District (Porto Velho, Rondônia) in the Brazilian Amazon, as well as in water and fish samples, to evaluate factors influencing human exposure. The average THg concentration in human hair was 7.86 ± 6.78 mg kg-1 and it was significantly higher in men, with an increasing trend related to age...

The basolateral amygdala (BLA) contains interneurons that express neuropeptide Y (NPY) and vasoactive intestinal polypeptide (VIP), both of which are involved in the regulation of functions and behaviors that undergo deterioration with aging. There is considerable evidence that, in some brain areas, the expression of NPY and VIP might be modulated by acetylcholine. Importantly, the BLA is one of the brain regions that has one of the densest cholinergic innervations, which arise mainly from the basal forebrain cholinergic neurons...

Parasiticide fungi are considered an accurate, sustainable, and safe solution for the biocontrol of animal gastrointestinal (GI) parasites. This research provides an initial characterization of the virulence of the native parasiticide fungus Mucor circinelloides (FMV-FR1) and an assessment of its impact on birds' gut microbes. The genome of this fungus was sequenced to identify the genes coding for virulence factors. Also, this fungus was checked for the phenotypic expression of proteinase, lecithinase, DNase, gelatinase, hemolysin, and biofilm production...

The emergence of phase separation in both intracellular biomolecular condensates (membrane-less organelles) and in vitro aqueous two-phase systems (ATPS) relies on the formation of immiscible water-based phases/domains. The solvent properties and arrangement of hydrogen bonds within these domains have been shown to differ and can be modulated with the addition of various inorganic salts and osmolytes. The naturally occuring osmolyte, trimethylamine- N -oxide (TMAO), is well established as a biological condensate stabilizer whose presence results in enhanced phase separation of intracellular membrane-less compartments...

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Many predatory animals, such as the praying mantis, use vision for prey detection and capture. Mantises are known in particular for their capability to estimate distances to prey by stereoscopic vision. While the initial visual processing centers have been extensively documented, we lack knowledge on the architecture of central brain regions, pivotal for sensory motor transformation and higher brain functions. To close this gap, we provide a three-dimensional (3D) reconstruction of the central brain of the Asian mantis, Hierodula membranacea...