The Neurobiology of Formal Thought Disorder.

The concept of Formal Thought Disorder (FTD) is an ambiguous and disputed one, even though it has endured as a core psychopathological construct in clinical Psychiatry. FTD can be summarized as a multidimensional construct, reflecting difficulties or idiosyncrasies in thinking, language, and communication in general and is usually subdivided into positive negative. In this article, we aim to explore the putative neurobiology of FTD, ranging from changes in neurotransmitter systems to alterations in the functional anatomy of the brain.

Uncovering the burden of Influenza in children in Portugal, 2008-2018.

Background: Despite their higher risk of developing severe disease, little is known about the burden of influenza in Portugal in children aged < 5 years old. This study aims to cover this gap by estimating the clinical and economic burden of severe influenza in children, in Portugal, during ten consecutive influenza seasons (2008/09-2017/18).

Methods: We reviewed hospitalizations in children aged < 5 years old using anonymized administrative data covering all public hospitals discharges in mainland Portugal.

Digital health and patient adherence: A qualitative study in older adults.

Introduction: Computer confidence and computer self-efficacy can impact an individual's perceived ease of use and usefulness of technology, ultimately determining adherence to digital healthcare services. However, few studies focus on assessing the impact of non-clinical factors on the efficacy and adherence to digital healthcare platforms.

Objective: We aimed to analyse the role of non-clinical factors (i.

Segmental motor neuron dysfunction in amyotrophic lateral sclerosis: Insights from H reflex paradigms.

Introduction/aims: In amyotrophic lateral sclerosis (ALS), the role of spinal interneurons in ALS is underrecognized. We aimed to investigate pre- and post-synaptic modulation of spinal motor neuron excitability by studying the H reflex, to understand spinal interneuron function in ALS.

Methods: We evaluated the soleus H reflex, and three different modulation paradigms, to study segmental spinal inhibitory mechanisms.

Diagnostic delays in breast cancer among young women: An emphasis on healthcare providers.

Despite advances in breast cancer care, breast cancer in young women (BCYW) faces unique challenges, diagnostic delays, and limited awareness in many countries. Here, we discuss the challenges and consequences associated with the delayed diagnosis of BCYW. The consequences of delayed diagnosis in young women - which generally varies among developed, developing, or underdeveloped countries - are severe due to a faster breast tumor growth rate than tumors in older women, also contributing to advanced cancer stages and poorer outcomes.

Surgical approach for management of complete anterior capsular contraction syndrome.

Anterior capsular contraction syndrome is an uncommon but well-known complication associated with continuous curvilinear capsulorhexis performed during cataract surgery. It remains asymptomatic unless the constriction progresses to involve the visual axis or causes late intraocular lens-related complications. A male patient in his 50s presented with severely decreased vision in his right eye 2 years after uneventful cataract surgery.

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal.

Liver cirrhosis requiring transplantation in the context of hepaticojejunostomy stricture after a traumatic bile duct injury.

Biliary injury secondary to trauma is frequently associated with long-term complications. Liver transplantation is rarely indicated but might be the best therapeutic option in severe or intractable cases. We report the case of a 19-year-old male referred for liver transplantation due to biliary injury after abdominal trauma.

When less is more: lower esophageal sphincter-preserving peroral endoscopic myotomy is effective for non-achalasia esophageal motility disorders.

Background: Non-achalasia esophageal motility disorders (NAEMDs), encompassing distal esophageal spasm (DES) and hypercontractile esophagus (HCE), are rare conditions. Peroral endoscopic myotomy (POEM) is a promising treatment option. In NAEMDs, unlike with achalasia, the lower esophageal sphincter (LES) functions normally, suggesting the potential of LES preservation during POEM.

Staphylococcal toxic shock syndrome.

Toxic Shock Syndrome (TSS) is a severe acute disease characterized by high fever, hypotension, rash, multiple organ dysfunction and desquamation during convalescence. TSS is caused by toxin-producing strains of Staphylococcus aureus or Streptococcus pyogenes. TSS remains a rare but severe disease.

Chest Computed Tomography for Lymphoma Staging: A Wasted Opportunity for Cardiovascular Risk Stratification?

Aim: Patients with a lymphoma diagnosis undergo non-gated chest computed tomography (CT) scans as part of cancer diagnosis or staging. Although coronary artery calcification (CAC) is traditionally evaluated on dedicated cardiac CT, CAC can also be detected on standard chest CT. This exploratory study aimed to determine the prognostic value of CAC detected on non-gated chest CT and to report its use on clinical practice.

The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients.

Telomere fusions (TFs) can trigger the accumulation of oncogenic alterations leading to malignant transformation and drug resistance. Despite their relevance in tumour evolution, our understanding of the patterns and consequences of TFs in human cancers remains limited. Here, we characterize the rates and spectrum of somatic TFs across >30 cancer types using whole-genome sequencing data.

Long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases: The ERN-ReCONNET VACCINATE study.

Background: Vaccination is one of the most important measures to contain the COVID-19 pandemic, especially for frail patients. VACCINATE is a multicentre prospective observational study promoted by the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) aimed at assessing the long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases (rcCTDs) in terms of efficacy and safety.

Methods: Adult rcCTDs patients were eligible for recruitment.

Vitamin B Supplementation for Optic Neuropathies: A Comprehensive Review.

Optic neuropathies, such as glaucoma, are some of the leading causes of irreversible blindness worldwide. There has been a lot of research for potential therapies that could attenuate and even reduce the impact of the pathological pathways that lead to the loss of retinal ganglion cells (RGCs). In recent years, vitamin B (nicotinamide) has gained some interest as a viable option for these neurodegenerative diseases due to its fundamental role in enhancing the mitochondria metabolism of the RGCs.

Erythrocytes' surface properties and stiffness predict survival and functional decline in ALS patients.

Erythrocytes play a fundamental role in oxygen delivery to tissues and binding to inflammatory mediators. Evidences suggest that dysregulated erythrocyte function could contribute to the pathophysiology of several neurodegenerative diseases. We aimed to evaluate changes in morphological, biomechanical, and biophysical properties of erythrocytes from amyotrophic lateral sclerosis (ALS) patients, as new areas of study in this disease.

HLA frequency distribution of the Portuguese bone marrow donor registry.

Introduction: The Portuguese donor Registry of CEDACE was the fifth largest bone marrow donor Registry of the WMDA as of 2019 and has yet to be thoroughly analyzed. We aimed to characterize its various aspects, including demographics and HLA allele and haplotype frequencies, to evaluate the genetic matching propensity score and ultimately further develop it.

Methods: We described and compared characteristics of the donor population with census data and used an Expectation-Maximization algorithm and analyses of molecular variance to assess haplotype frequencies and establish phylogenetic distances between regions and districts within the country.