Publications by authors named "Martinho M"

Endometriosis is a highly prevalent gynecological disease characterized by the presence of endometrium-like tissue outside the uterus, whose etiopathology is far from being elucidated. The most frequent complains of patients are pelvic pain and infertility. Increasing evidence supports the systemic impact of endometriosis suggesting that an intricate crosstalk among distinct organs underlies the development of the disease.

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  • * The study utilized advanced neuroimaging techniques to analyze brain structure in 91 adolescent ED patients and 48 healthy controls, linking specific brain microstructural patterns to different behavioral profiles.
  • * A key finding was that an 'undercontrolled' behavioral profile, marked by high emotional dysregulation and low self-control, correlated with neurological changes in white matter tracts, especially in regions associated with emotional regulation, highlighting the significance of brain-behavior interactions in EDs for future clinical applications.
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  • - Hypereosinophilic syndromes (HES) are rare disorders that cause high levels of eosinophils in the blood, leading to potential damage to various organs, with the skin, lungs, heart, and gut being the most affected.
  • - A 39-year-old woman experienced serious complications from HES, including heart failure and encephalopathy, after being admitted for a blood clot, and was diagnosed with idiopathic HES impacting multiple organs.
  • - Although she initially responded well to high-dose corticosteroids, her failure to adhere to prescribed treatment ultimately led to disease progression and her death, emphasizing the critical need for consistent medical compliance in managing HES.
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  • About one-third of Portuguese patients with congenital hypogonadotropic hypogonadism (CHH) have a genetic cause linked to 10 different genes, with a small percentage showing oligogenic inheritance.
  • CHH leads to delayed puberty and infertility due to issues with hormones like GnRH, LH, and FSH.
  • In a study involving 81 patients and 263 controls, genetic screening helped identify pathogenic variants, but many variants classified as uncertain complicate the understanding of the disease causes.
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Background: Patients with endometriosis tend to have a low body mass index, suggesting an inverse relationship between body fat and risk of disease. This is supported by evidence that miRNAs differentially expressed in endometriosis induce browning of pre-adipocytes in vitro. Thus, we hypothesize that endometriosis may underlie adipose tissue (AT) dysfunction and browning.

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Compartmentalization of proteins by liquid-liquid phase separation (LLPS) is used by cells to control biochemical reactions spatially and temporally. Among them, the recruitment of proteins to DNA foci and nucleolar trafficking occur by biomolecular condensation. Within this frame, the oncoprotein SET/TAF-Iβ plays a key role in both chromatin remodeling and DNA damage response, as does nucleophosmin (NPM1) which indeed participates in nucleolar ribosome synthesis.

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Frequent (>70%) TP53 mutations often promote its protein stabilization, driving esophageal adenocarcinoma (EAC) development linked to poor survival and therapy resistance. We previously reported that during Barrett's esophagus progression to EAC, an isoform switch occurs in the E3 ubiquitin ligase RNF128 (aka GRAIL-gene related to anergy in lymphocytes), enriching isoform 1 (hereby GRAIL1) and stabilizing the mutant p53 protein. Consequently, GRAIL1 knockdown degrades mutant p53.

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A 65-year-old man with previous history of smoking, controlled HIV infection, treated hepatitis B infection, and type III cryoglobulinemia, was admitted due to right heart failure symptoms and significant weight loss. Despite being haemodynamically stable, he had periods of 1:1 conduction atrial flutter and presented with respiratory alkalosis and metabolic acidosis, as well as acute kidney and hepatic dysfunction, elevated D-dimer and cardiac markers. He underwent imaging with chest computed tomography and echocardiogram that confirmed pulmonary embolism and most notably revealed a significant sized cardiac mass causing almost complete obstruction of the right chambers, with no cleavage plane with the myocardial walls and tricuspid valve.

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Background: School meals represent a significant supply of nutrients for children in Brazil, especially those in conditions of social vulnerability.

Objectives: This study aimed to assess the levels of arsenic (As), cadmium (Cd), and lead (Pb) in meals served in public elementary schools in four municipalities in the state of Bahia, Brazil, and assess the risk posed to children's health.

Methods: Ninety-six samples were collected from 16 schools, freeze-dried, and subjected to microwave-assisted digestion.

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Introduction: Gestational diabetes (GD) is a risk factor for neonatal hypoglycaemia (NH), but other factors can increase this risk.

Objectives: To create a score to predict NH in women with GD.

Methods: Retrospective study of women with GD with a live singleton birth between 2012 and 2017 from the Portuguese GD registry.

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This study investigated the occurrence of aflatoxins (B1, B2, G1, and G2) in maize flour produced in Mozambique and to assess the associated carcinogenic risk. At different opportunities, 30 samples of maize flour were collected in five flour processing factories. These were determined by high-performance liquid chromatography (HPLC) with fluorescence detection.

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Tau is a microtubule-associated protein that belongs to the Intrinsically Disordered Proteins (IDPs) family. IDPs or Intrinsically Disordered Regions (IDRs) play key roles in protein interaction networks and their dysfunctions are often related to severe diseases. Defined by their lack of stable secondary and tertiary structures in physiological conditions while being functional, these proteins use their inherent structural flexibility to adapt to and interact with various binding partners.

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Background: Atrioventricular block (AVB) secondary to transient causes can recover with its correction. However, studies assessing predictors of recovery and long-term recurrence are lacking.

Methods: Patients with advanced or complete AVB who had a reversible cause admitted in a single expert center were retrospectively studied.

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Background: Primary intimal sarcomas of the heart are extremely rare and have a dismal prognosis. Their management represents a complex clinical challenge since complete surgical resection is the only reliable possibility of cure but is only possible in 50% of patients. In non-resectable disease, anthracycline-based therapy is the most effective treatment, but pazopanib may be used in patients unfit to receive anthracyclines.

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The flavoprotein Cytochrome P450 reductase (CPR) is the unique electron pathway from NADPH to Cytochrome P450 (CYPs). The conformational dynamics of human CPR in solution, which involves transitions from a "locked/closed" to an "unlocked/open" state, is crucial for electron transfer. To date, however, the factors guiding these changes remain unknown.

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ATP-binding cassette (ABC) transporters are ubiquitous membrane proteins responsible for the translocation of a wide diversity of substrates across biological membranes. Some of them confer multidrug or antimicrobial resistance to cancer cells and pathogenic microorganisms, respectively. Despite a wealth of structural data gained in the last two decades, the molecular mechanism of these multidrug efflux pumps remains elusive, including the extent of separation between the two nucleotide-binding domains (NBDs) during the transport cycle.

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Introduction: Reperfusion therapy is generally recommended in acute high-risk pulmonary embolism (HR-PE), but several population-based studies report that it is underused. Data on epidemiology, management and outcomes of HR-PE in Portugal are scarce.

Objective: To determine the reperfusion rate in HR-PE patients, the reasons for non-reperfusion, and how it influences outcomes.

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Effective antiviral treatments for coronavirus disease 2019 (COVID-19) are needed to reduce the morbidity and mortality associated with severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection, particularly in patients with risk factors for severe disease. Molnupiravir (MK-4482, EIDD-2801) is an orally administered, ribonucleoside prodrug of β-D-N4-hydroxycytidine (NHC) with submicromolar potency against SARS-CoV-2. A population pharmacokinetic (PopPK) analysis for molnupiravir exposure was conducted using 4202 NHC plasma concentrations collected in 1207 individuals from a phase I trial in healthy participants, a phase IIa trial in non-hospitalized participants with COVID-19, a phase II trial in hospitalized participants with COVID-19, and a phase II/III trial in non-hospitalized participants with COVID-19.

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Introduction And Objectives: The true prevalence of chronic thromboembolic pulmonary hypertension (CTEPH) after pulmonary embolism (PE) in the Portuguese population remains unknown. We aimed to assess the prevalence and predictors of CTEPH two years after a symptomatic high- (HR) or intermediate-high risk (IHR) PE.

Methods: We conducted a retrospective cohort study of patients admitted with PE between 2014 and 2019 to a Portuguese referral center for pulmonary hypertension.

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Deep inferior epigastric artery perforator (DIEAP) flap reconstruction surgeries can potentially benefit from augmented reality (AR) in the context of surgery planning and outcomes improvement. Although three-dimensional (3D) models help visualize and map the perforators, the anchorage of the models to the patient's body during surgery does not consider eventual skin deformation from the moment of computed tomography angiography (CTA) data acquisition until the position of the patient while in surgery. In this work, we compared the 3D deformation registration from supine arms down (CTA position) to supine with arms at 90° degrees (surgical position), estimating the patient's skin deformation.

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Background: Breast cancer therapy improved significantly, allowing for different surgical approaches for the same disease stage, therefore offering patients different aesthetic outcomes with similar locoregional control. The purpose of the CINDERELLA trial is to evaluate an artificial-intelligence (AI) cloud-based platform (CINDERELLA platform) vs the standard approach for patient education prior to therapy.

Methods: A prospective randomized international multicentre trial comparing two methods for patient education prior to therapy.

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