Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer.

Introduction: Translation of genome-wide association study (GWAS) findings into preventive approaches is challenged by the identification of the causal risk variants and the understanding of the biological mechanisms by which they act. We present using allelic expression (AE) ratios to perform quantitative case-control analysis as a novel approach to identify risk associations, causal regulatory variants, and target genes.

Methods: Using the breast cancer (BC) risk locus 17q22 to validate this approach, we measured AE ratios in normal breast tissue samples from controls and cases, as well as from unmatched blood samples.

Seasonal and Spatial Comparison of Polycyclic Aromatic Hydrocarbons Among Decapod Shrimp from Coastal Portugal.

Polycyclic aromatic hydrocarbons (PAHs) are ubiquitous global pollutants that are lipophilic, bioaccumulative and can be both endocrine disruptors and carcinogens. In this study, we measured 18 PAHs among decapod shrimp samples (Palaemon spp.) collected during the spring and autumn from multiple locations along the Portuguese coastal, including local markets and aquaculture farms.

Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant.

PIK3CA mutations are the most common in breast cancer, particularly in the estrogen receptor-positive cohort, but the benefit of PI3K inhibitors has had limited success compared with approaches targeting other less common mutations. We found a frequent allelic expression imbalance between the missense mutant and wild-type PIK3CA alleles in breast tumors from the METABRIC (70.2%) and the TCGA (60.

FHIR Based Interoperability of Medical Devices.

Although FHIR has been designed to be easy to implement, it requires knowledge that is still hard to find. We aim to evaluate the use of FHIR in Portuguese projects for the integration of medical devices. Two projects were selected, including easyHealth4Covid (EH4C) and Chronic Diseases Management Platform (CDMP).

Endoscopic management of subepithelial lesions including neuroendocrine neoplasms: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.

1: ESGE recommends endoscopic ultrasonography (EUS) as the best tool to characterize subepithelial lesion (SEL) features (size, location, originating layer, echogenicity, shape), but EUS alone is not able to distinguish among all types of SEL.Strong recommendation, moderate quality evidence. 2: ESGE suggests providing tissue diagnosis for all SELs with features suggestive of gastrointestinal stromal tumor (GIST) if they are of size > 20 mm, or have high risk stigmata, or require surgical resection or oncological treatment.

Brominated flame retardants effect in MCF-7 cells: Impact on vitamin D pathway.

Brominated flame retardants (BFRs) are persistent environmental pollutants, allowing a constant human exposure which carries several health risks, including the occurrence of breast cancer and vitamin D deficiency. Vitamin D inhibits cell growth and is negatively associated with breast cancer risk. The effect of BFRs in breast cancer and vitamin D pathway is still poorly understood.

Diagnosis of MALT Lymphoma from Surveillance Endoscopy of a Patient with a Gene Germline Mutation.

Carriers of the mutated gene have an increased risk of developing early-onset signet-ring cell (diffuse) gastric cancer. We present a case of a young patient with a confirmed mutation of the gene, who was diagnosed with a gastric marginal zone B-cell lymphoma (MZL) of mucosa-associated lymphoid tissue (MALT lymphoma) from surveillance endoscopy. He underwent eradication treatment and was subsequently submitted to a total prophylactic gastrectomy.

Does emotional valence modulate word recognition? A behavioral study manipulating frequency and arousal.

Effects of emotional valence have been observed in lexical decision tasks, suggesting that valence information modulates early word recognition. However, is still unclear the processing advantage of the different valence categories, and how these advantages might be modulated by word frequency and arousal. To clarify this question, a lexical decision task was designed using emotional words as stimuli.

Reading Comprehension Predictors in European Portuguese Adults.

Research on the predictors of reading comprehension has been largely focused on school-aged children and mainly in opaque orthographies, hindering the generalization of the results to adult populations and more transparent orthographies. In the present study, we aim to test two versions of the Simple View of Reading (SVR): the original model and an extended version, including reading fluency and vocabulary. Additional mediation models were analyzed to verify if other reading comprehension predictors (rapid automatized naming, phonological decoding, phonological awareness, morphological awareness, and working memory) have direct effects or if they are mediated through word reading and reading fluency.

Impact of brominated flame retardants on lipid metabolism: An in vitro approach.

Brominated flame retardants (BFRs) are chemicals employed to lower the flammability of several objects. These endocrine disruptor chemicals are lipophilic and persistent in the environment. Due to these characteristics some have been restricted or banned by the European Union, and replaced by several new chemicals, the novel BFRs (NBFRs).

The psychometric properties of PSYCHLOPS, an individualized patient-reported outcome measure of personal distress.

Objective: Few studies report the psychometric properties of individualized patient-reported outcome measures (I-PROMs) combining traditional analysis and Item Response Theory (IRT).

Methods: Pre- and posttreatment PSYCHLOPS data derived from six clinical samples (n = 939) were analyzed for validity, reliability, and responsiveness; caseness cutoffs and reliable change index were calculated. Exploratory and confirmatory factor analyses were used to determine whether items represented a unidimensional construct; IRT examined item properties of this construct.

The role of adipose tissue analysis on Environmental Pollutants Biomonitoring in women: The European scenario.

Humans are exposed every day to assorted environmental pollutants namely, polychlorinated biphenyls (PCB), organochlorine pesticides (OCP), brominated flame-retardants (BFR), polycyclic aromatic hydrocarbons (PAH), synthetic musks, heavy metals (e.g. cadmium) and plastic additives (e.

Validation and Evaluation of Selected Organic Pollutants in Shrimp and Seawater Samples from the NW Portuguese Coast.

The development of coastal regions has contributed to the intensification of environmental contamination, which can accumulate in aquatic biota, such as shrimps. These crustaceans, besides being delicious and being a good source of nutrients, can also accumulate environmental pollutants. Amongst others, these include organochlorine pesticides (OCPs), organophosphorus pesticides (OPPs), brominated flame retardants (BFRs), polychlorinated biphenyls (PCBs) and synthetic musks (SMs).

Changes in appetite, taste, smell, and food aversion in post-bariatric patients and their relations with surgery time, weight loss and regain.

Purpose: We aimed to study the occurrence of long-term changes in appetite, taste, smell perceptions, and food aversion in patients following bariatric surgery. Additionally, we compared two surgery types, excess weight loss, rate of weight regain, and time since surgery.

Methods: This cross-sectional study included 146 post-bariatric patients who were without regular medical follow-up (126 post-Roux-en-Y gastric bypass [RYGB] and 20 post-sleeve gastrectomy [SG]), aged 42 ± 8 years, BMI of 32.

The Role of Phage Therapy in Burn Wound Infections Management: Advantages and Pitfalls.

Burn wound infections are often the source of bacteria responsible for systemic infections, including bloodstream infections and pneumonia that ultimately can result in multisystem organ failure and death. Any rapid change in the burn wound appearance or the clinical condition of the burn patient may herald burn wound infection or sepsis. The revival of phage therapy, either in single mode or in combination with conventional antibiotics may represent a valuable alternative, to treat specific bacterial infections such as burn wound infections, including those caused by multidrug-resistant organisms.

The Impact of () Expression Levels in Patients with Comorbidities on COVID-19 Severity: A Comprehensive Review.

Angiotensin-Converting Enzyme 2 (ACE2) has been proved to be the main host cell receptor for the binding of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for the COVID-19 pandemic. The SARS-CoV-2 spike (S) protein binds to ACE2 to initiate the process of replication. This enzyme is widely present in human organ tissues, such as the heart and lung.

Patterns of dosage regimen instructions regarding topical medicines: how is the information perceived by patients?

Background: The communication of dosage regimen instructions by physicians is of utmost importance on treatment adherence. Few studies until now have approached the topical treatment adherence subject.

Objective: This study aims the characterization of dosage regimen instructions given by physicians and the assessment of chronic dermatological patients' perception regarding these instructions.

Turkish language validity and reliability of the Control of Allergic Rhinitis and Asthma Test and its comparison with other scales.

Objectives: Patients with asthma often suffer from concomitant allergic rhinitis (AR). The Control of Allergic Rhinitis and Asthma Test (CARAT) is a validated tool to assess asthma and rhinitis multimorbidity. Turkish language validity and reliability of CARAT and its compatibility with other scales were evaluated in the study.

quincunx: an R package to query, download and wrangle PGS Catalog data.

Motivation: The Polygenic Score (PGS) Catalog is a recently established open database of published polygenic scores that, to date, has collected, curated and made available 721 polygenic scores from over 133 publications. The PGS Catalog REST API is the only method allowing programmatic access to this resource.

Results: Here, we describe quincunx, an R package that provides the first client interface to the PGS Catalog REST API.

Visceral obesity is associated with lower stage colon tumors in males without survival advantage.

Visceral obesity and systemic inflammatory response (SIR) were suggested to be closely related to colon cancer (CC) oncological and surgical outcomes. The first by producing several soluble factors involved in carcinogenesis and the second for having a key role in the nutritional and functional decline of patients with cancer. Furthermore, gender differences in relative body composition and adipose tissue regional distribution have also been acknowledged to influence CC.

Surviving Extreme Anaemia.

Unlabelled: Before the development of transfusion medicine, severe anaemia was an important cause of morbidity and mortality. The discovery of haematopoietic mechanisms and essential nutrients made it possible to easily treat and prevent this condition. Nevertheless, it is often fatal in patients presenting with extreme anaemia (haemoglobin levels <2 g/dl).

Representation of Diagnosis and Nursing Interventions in OpenEHR Archetypes.

Objective: The study aimed to represent the content of nursing diagnosis and interventions in the openEHR standard.

Methods: This is a developmental study with the models developed according to ISO 18104: 2014. The Ocean Archetype Editor tool from the openEHR Foundation was used.

Revising the European Society of Gastrointestinal Endoscopy (ESGE) research priorities: a research progress update.

Background: One of the aims of the European Society of Gastrointestinal Endoscopy (ESGE) is to encourage high quality endoscopic research at a European level. In 2016, the ESGE research committee published a set of research priorities. As endoscopic research is flourishing, we aimed to review the literature and determine whether endoscopic research over the last 4 years had managed to address any of our previously published priorities.