Depressive Symptoms and Amyloid Pathology.

Importance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology.

Corrigendum: Medical residency in Portugal: a cross-sectional study on the working conditions.

[This corrects the article DOI: 10.3389/frhs.2023.

Features of intermediate and late dry age-related macular degeneration on adaptive optics ophthalmoscopy: Pinnacle Study Report 8.

Background/objectives: Adaptive optics ophthalmoscopy (AOO) has the potential to provide insights into AMD pathology and to assess the risk of progression. We aim to utilise AOO to describe detailed features of intermediate AMD and to characterise microscopic changes during atrophy development.

Subjects/methods: Patients with intermediate AMD were recruited into PINNACLE, a prospective observational cohort study.

The impact of neoadjuvant therapy in patients with left-sided resectable pancreatic cancer: an international multicenter study.

Purpose: To assess the association between neoadjuvant therapy and overall survival (OS) in patients with left-sided resectable pancreatic cancer (RPC) compared to upfront surgery.

Background: Left-sided pancreatic cancer is associated with worse OS compared to right-sided pancreatic cancer. Although neoadjuvant therapy is currently seen as not effective in patients with RPC, current randomized trials included mostly patients with right-sided RPC.

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.

Peripheral Axonal Neuropathy in Hemophagocytic Lymphohistiocytosis Secondary to Rickettsia conorii Infection.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal hyperinflammatory syndrome characterized by dysregulated immune activation and systemic inflammation. Secondary HLH is often triggered by infections, with being an infrequently reported cause. Peripheral axonal neuropathy is a rare and poorly understood complication of HLH.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Distributive and Refractory Shock in Myxoedema Coma.

Myxoedema coma is a rare medical emergency, presenting even less commonly without sepsis and with the diagnosis of distributive shock. Reports of catecholamine-refractory shock are scarce. This report describes the case of a 54-year-old male, who presented to the emergency department with altered mental status.

Impact of Chorionicity in Neurodevelopmental Outcomes in Preterm Twins.

Introduction Multifetal pregnancies, which account for 2-4% of births worldwide, have increased in recent years. Twin pregnancies carry a higher risk of preterm birth and associated neonatal morbimortality, with monochorionic twins considered at greater risk. This study investigates the influence of chorionicity on neurodevelopmental outcomes in preterm twins.

Type 2 inflammation: a Portuguese consensus using Web-Delphi and decision conferencing (INFLAT2-PT).

Objectives: Atopic/allergic diseases impose a growing burden on public health, affecting millions of patients worldwide. The main objective of this study was to develop a national expert consensus on relevant clinical questions related to type 2 inflammation.

Methods: We conducted: a comprehensive literature review with a qualitative analysis to identify the most repeated themes on the overlap of conditions; a modified 3-round Web-Delphi (or e-Delphi); and a final online decision conference.

[Healthcare-Associated Infections in Pediatric Patients: A Decade of Experience in an Intensive Care Unit].

Introduction: Healthcare-associated infections are an important cause of morbidity and mortality in the pediatric population and a growing problem in intensive care services. However, limited data are available on these infections in the Portuguese pediatric population. This study aimed to estimate its prevalence rate in a Portuguese pediatric intensive care unit, identifying the most frequent microorganisms and their antibiotic resistance profiles.

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

The Portuguese Society of Ophthalmology and the Portuguese Society of Human Genetics developed clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underlining the critical role of molecular diagnosis in enhancing patient care. Genetic testing is pivotal in diagnosis, genetic counselling, prognosis and access to clinical trials, and new gene-specific therapies. These guidelines recommend genetic testing in all IRD patients and provide a detailed assessment of available testing methods, ensuring that genetic counselling is integrated into ophthalmic care.

Mortality and Pulmonary Complications of Post-stroke Dysphagia: A Casuistic Review of an Acute Stroke Unit.

Introduction: Dysphagia is a common post-stroke neurological disorder. Early screening for dysphagia can identify patients at risk of aspiration, thereby reducing the occurrence of pulmonary complications, morbidity, and mortality in this population.

Objectives: This study aims to evaluate the impact of an intervention in a stroke unit, following a retrospective study carried out in the same unit in 2020, which investigated the association between dysphagia and acute cerebrovascular disease and analyzed the prevalence of readmissions due to respiratory tract infections (RTI) and mortality.

Opsoclonus-Myoclonus-Ataxia Syndrome: A Rare Outcome Following Routine Vaccinations.

Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder, affecting approximately 0.18 per million individuals annually. It presents with a triad of opsoclonus, myoclonus, and ataxia, often including cognitive dysfunction and behavioral disturbances.

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.

Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.

Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.

Quality and readability of online information on Keratoconus in Portugal and Brazil.

Introduction: Keratoconus patients turn to the internet for answers to their disease expectations. Webpages are not filtered or submitted to evaluation before getting published. We aim to evaluate the quality and readability of the online information regarding keratoconus in Portugal and Brazil.

Neonatal Late-Onset Sepsis Due to Acinetobacter baumannii: A Case Report.

Late-onset sepsis (LOS) is commonly associated with pathogens acquired in hospital or community settings and carries a significant risk of morbidity and mortality in neonates. We present a case of a late preterm neonate, born at 36 weeks and 2 days with low birth weight (1700 g), who was admitted to the neonatal intensive care unit (NICU) and developed LOS on the fourth day of life. LOS was diagnosed in the context of fever and lethargy, mild thrombocytopenia, leukopenia, and lymphopenia, and was caused by multidrug-resistant (MDR) , confirmed through blood culture.

Applicability of the Scottish screen-detected polyp cancer study (SSPoCS) algorithm in a multicentric cohort in the management of malignant colorectal polyps.

Background/objectives: Robust evidence regarding the management after endoscopic resection of malignant colorectal polyps (MCP) is lacking. Inconsistencies in reporting on potential prognostic factors hinder the decision process. To address these issues, the Scottish Screen-detected Polyp Cancer Study (SSPoCS) introduced an algorithm based in two easily obtainable variables: resection margin and lymphovascular invasion.

European consensus-based interdisciplinary guideline for melanoma. Part 2: Treatment - Update 2024.

A unique collaboration of multi-disciplinary experts from the European Association of Dermato-Oncology (EADO), the European Dermatology Forum (EDF), and the European Organization of Research and Treatment of Cancer (EORTC) was formed to make recommendations on cutaneous melanoma diagnosis and treatment, based on systematic literature reviews and the experts' experience. Cutaneous melanomas are excised with one to two-centimeter safety margins. For a correct stage classification and treatment decision, a sentinel lymph node biopsy shall be offered in patients with tumor thickness ≥ 1.

Microembolic signal detection in acute ischemic stroke: Clinical relevance and impact on treatment individualization-A narrative review.

Background: Microembolic signals (MES) can be detected using transcranial Doppler (TCD) ultrasound in several clinical scenarios, including acute ischemic stroke (AIS). This narrative review aims to provide insights into their role in AIS patient management and outcomes.

Methods: The present narrative review consolidates current observational and randomized evidence on the prevalence and clinical relevance of MES in different AIS subtypes and settings.

"My Voice Sounds Different": A Case of Acute Idiopathic Velopharyngeal Insufficiency.

This report details a case of acute idiopathic velopharyngeal insufficiency in a previously healthy eight-year-old girl, presenting with sudden voice alteration and nasal regurgitation following mild respiratory symptoms. Physical examination identified unilateral velar paralysis with open rhinolalia, without additional neurological deficits. Extensive diagnostic evaluation, including nasopharyngoscopy, cerebral and cervical imaging, and infectious serologies, yielded unremarkable findings.

European consensus-based interdisciplinary guideline for melanoma. Part 1: Diagnostics - Update 2024.

This guideline was developed in close collaboration with multidisciplinary experts from the European Association of Dermato-Oncology (EADO), the European Dermatology Forum (EDF) and the European Organization for Research and Treatment of Cancer (EORTC). Recommendations for the diagnosis and treatment of melanoma were developed on the basis of systematic literature research and consensus conferences. Cutaneous melanoma (CM) is the most dangerous form of skin tumor and accounts for 90 % of skin cancer mortality.

Reassessing cardiovascular risk stratification in men with erectile dysfunction.

Background And Objectives: Erectile dysfunction (ED) is an independent and strong marker of cardiovascular disease (CVD) risk. The Princeton Consensus aimed to evaluate and manage cardiovascular risk in men with ED and no known cardiovascular disease, focusing on identifying those requiring additional cardiologic work-up. It has recently been updated to the American population demographics, but European recommendations are needed.