Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal.

In recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling. At the same time, there has been a growing recognition of the parameters on which to base a safe practice, not only regarding the technical skills of the professional but also regarding their counselling skills, including relational and empathy skills and the acknowledgement of the emotional impact that genetic counselling practice can have. However, despite this growing knowledge, there are still significant differences between the various European countries, and one area where this discrepancy is particularly evident is genetic counselling supervision.

Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.

Hydatidiform moles are rare and thus most pathologists and geneticists have little experience with their diagnosis. It is important to promptly and correctly identify hydatidiform moles given that they are premalignant disorders associated with a risk of persistent gestational trophoblastic disease and gestational trophoblastic neoplasia. Improvement in diagnosis can be achieved with uniformization of diagnostic criteria and establishment of algorithms.

Adverse Events of Latent Tuberculosis Treatment With Isoniazid in People Living With HIV: A Case-Control Study in a Resource-Rich Setting.

Introduction Multiple risk factors, such as human immunodeficiency virus (HIV) infection and immunosuppressive therapies, increase the odds of latent tuberculosis infection (LTBI) reactivation and progression to active tuberculosis. A six-to-nine-month preventive treatment with isoniazid (INH) decreases the risk of LTBI reactivation, but its effectiveness can be limited by its long duration and adverse events (AEs), including liver toxicity. Due to comorbidities and polypharmacy, people living with HIV (PLHIV) may be at increased risk of INH-associated AEs.

Equity matrix for kidney transplant allocation.

There is a general agreement that the distribution of kidneys for transplantation should balance utility criteria with justice. Moreover, a kidney allocation system must be based on transparent policies and seen as an ongoing process. This study aims to present an allocation system grounded on an equity matrix that balances the criteria of utility and justice.

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures and/or repetitive movements. In this report, we identified a novel heterozygous splice-site variant in VPS16 (NM_022575.4:c.

Improving Healthcare Quality with an LHS.

The Learning Health System (LHS) is an important tool to help healthcare professionals solve problems by collecting, analyzing, interpreting and comparing health data, with the objective of helping patients make the best decision based on their own data, given the best evidence available. [1]. We believe partial oxygen saturation of arterial blood (SpO2) and related measurements and calculations can also be candidates for predictions and analysis of health conditions.

Starch-based films doped with porphyrinoid photosensitizers for active skin wound healing.

Starch is a biodegradable and biocompatible carbohydrate that, when combined with bioactive molecules, can be processed as biomimetic platforms with enhanced performance, allowing its use as active wound dressing materials. Porphyrinoid photosensitizers can tune the physicochemical/functional profile of biomacromolecules, allowing their use in anti-infective strategies. In this work, the feasibility of using the cationic 5,10,15,20-tetrakis(1-methylpyridinium-4-yl)porphyrin tetraiodide (TMPyP) to enhance the physicochemical, mechanical, antimicrobial performance, and wound healing ability of casted starch-based films was studied.

People with Early Onset Parkinson's Disease: Empowered to Improve Care.

Patient organizations play an ever-growing role in modern societies by providing organized resources for patients and care partners. Importantly, patient organizations enable patients to define and share their needs and views. In Parkinson's disease (PD), patient organizations play significant roles in different countries.

Ustekinumab improves health-related quality of life in patients with moderate-to-severe Crohn's disease: Results up to Week 104 of the STARDUST trial.

Background: STARDUST is a phase 3b randomized controlled trial comparing two ustekinumab treatment strategies in patients with Crohn's disease (CD): treat-to-target (T2T) versus standard of care (SoC).

Objective: We investigated the effect of a T2T or SoC ustekinumab treatment strategy on health-related quality of life (HRQoL) and work productivity and activity impairment (WPAI) over a 2-year follow-up period.

Methods: At Week 16, adult patients with moderate-to-severe active CD were randomized 1:1 to either T2T or SoC treatment groups.

Radiation protection measures used in Portuguese interventional radiology departments: A national survey.

Introduction: This study aimed to characterise radiation protection (RP) measures used in interventional radiology (IR) departments in Portugal with respect to European and national recommendations.

Methods: An online national survey was created to characterise the fluoroscopy technology as well as analyse the frequency of body fluoroscopy-guided intervention procedures (FGIP), RP education and training of the staff, and RP measures used daily.

Results: In Portugal, most equipment for FGIP are single-sourced and have a flat panel detector (70%).

Machine learning models based on clinical indices and cardiotocographic features for discriminating asphyxia fetuses-Porto retrospective intrapartum study.

Introduction: Perinatal asphyxia is one of the most frequent causes of neonatal mortality, affecting approximately four million newborns worldwide each year and causing the death of one million individuals. One of the main reasons for these high incidences is the lack of consensual methods of early diagnosis for this pathology. Estimating risk-appropriate health care for mother and baby is essential for increasing the quality of the health care system.

Burnout among Physicians Working in Palliative Care During the COVID-19 Pandemic in Portugal: A Cross-Sectional Study.

Introduction: Physicians working in palliative care have a greater risk of burnout. Burnout has three dimensions: emotional exhaustion, depersonalization and reduction of personal accomplishments. Burnout is associated with different consequences for the professionals like less professional satisfaction and increase of overall levels of exhaustion.

Perceptions of Portuguese Doctors Regarding Hastened Death Scenarios: A Cross-Sectional Study.

Introduction: A growing number of countries have legalized the process of hastening death. At a time when laws decriminalizing hastened death have been passed in the Portuguese Parliament, the development of research related with decision making regarding this issue is of crucial importance. This study seeks to evaluate, in a sample of Portuguese doctors, whether the presentation of clinical vignettes changes the agreement with the practice of hastened death compared with general scenarios.

Peripheral T-Cell Lymphoma, Not Otherwise Specified - a case report and short literature review.

Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is the most common subgroup of peripheral T-cell lymphomas (PTCL), and constitutes a diagnosis of exclusion. At presentation, most patients exhibit B symptoms and generalized lymphadenopathy, with or without concomitant extra-nodal involvement. We present a case of a man admitted to the hospital with B symptoms, generalized lymphadenopathy and a pruritic exanthema.

Blood Biomarkers for the Diagnosis of Neurodegenerative Dementia: A Systematic Review.

Importance: Accurately diagnosing neurodegenerative dementia is often challenging due to overlapping clinical features. Disease specific biomarkers could enhance diagnostic accuracy. However, CSF analysis procedures and advanced imaging modalities are either invasive or high-priced, and routinely unavailable.

Spongy-like hydrogels prevascularization with the adipose tissue vascular fraction delays cutaneous wound healing by sustaining inflammatory cell influx.

In vitro prevascularization is one of the most explored approaches to foster engineered tissue vascularization. We previously demonstrated a benefit in tissue neovascularization by using integrin-specific biomaterials prevascularized by stromal vascular fraction (SVF) cells, which triggered vasculogenesis in the absence of extrinsic growth factors. SVF cells are also associated to biological processes important in cutaneous wound healing.

Proximal femur geometry: a major predictor of proximal femur fracture subtypes.

Introduction: Proximal femur geometry (PFG) represents an important risk factor for the occurrence of hip fractures. There are currently few studies regarding the correlation between PFG and the occurrence of a specific fracture subtype, and those that exist have small cohorts and present with different methodologies and contradictory results. Therefore, there is no consensus in the literature regarding this topic.

Anxiety in heart failure patients and its association with socio-demographic and clinical characteristics: a cross-sectional study.

Unlabelled: Anxiety is one of the most frequent psychiatric disorders in heart failure (HF) patients. However, it is often neglected in clinical practice and studies about the particular relationship with the New York Heart Association (NYHA) classes for HF are scarce. In this context, this study aims to analyze the presence of anxiety symptoms in HF outpatients and also its association with sociodemographic and clinical characteristics of these patients.

Integrin-specific hydrogels for growth factor-free vasculogenesis.

Integrin-binding biomaterials have been extensively evaluated for their capacity to enable de novo formation of capillary-like structures/vessels, ultimately supporting neovascularization in vivo. Yet, the role of integrins as vascular initiators in engineered materials is still not well understood. Here, we show that αvβ3 integrin-specific 3D matrices were able to retain PECAM1 cells from the stromal vascular fraction (SVF) of adipose tissue, triggering vasculogenesis in vitro in the absence of extrinsic growth factors.

Opportunistic Infections in Patients with Inflammatory Bowel Disease Treated with Advanced Therapies: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Background And Aims: Advanced therapies for inflammatory bowel disease [IBD] could potentially lead to a state of immunosuppression with an increased risk of opportunistic infections [OIs]. We aimed to provide an update on the incidence of OIs among adult IBD patients in randomized controlled trials [RCTs] of approved biologics and small-molecule drugs [SMDs]. Also, we aimed to describe OI definitions utilized in RCTs, to ultimately propose a standardized definition.