Cardiovascular diseases, prevention and management of complications in older adults and frail patients treated for elective or post-traumatic hip orthopaedic interventions.

Due to the aging population, focusing on healthy aging has become a global priority. Cardiovascular diseases (CVDs) and frailty, characterized by increased vulnerability to adverse stress and health events, interact synergistically in advanced age. In older adults, hip fractures are a frequent dramatic "life-transition" event.

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.

Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.

An Uncommon Presentation of Guillain-Barré Syndrome With Lhermitte Sign.

Guillain-Barré syndrome (GBS) is a complex and potentially life-threatening disease, representing the most common cause of acute neuromuscular paralysis worldwide. Its diagnosis is primarily based on clinical findings, often complemented by electrophysiological studies and laboratory investigations. Therefore, knowledge of the clinical signs and symptoms is essential to make a prompt diagnosis and allow timely initiation of therapeutic interventions.

Dissemination of arr-2 and arr-3 is associated with class 1 integrons in Klebsiella pneumoniae clinical isolates from Portugal.

\nKlebsiella pneumoniae is a common pathogen of healthcare-associated infections expressing a plethora of antimicrobial resistance loci, including ADP-ribosyltransferase coding genes (arr), able to mediate rifampicin resistance. The latter has activity against a broad range of microorganisms by inhibiting DNA-dependent RNA polymerases. This study aims to characterise the arr distribution and genetic context in 138 clinical isolates of K.

CheckAP: Prevalence of psoriatic arthritis (PsA) and performance evaluation of the EARP questionnaire in the population of Portuguese patients with psoriasis followed in a dermatology setting.

Background: The percentage of Portuguese psoriasis patients with psoriatic arthritis is unknown but musculoskeletal complaints related to PsA affect up to a third of patients. Dermatologists can identify early PsA as skin symptoms often precede joint symptoms in 80% of patients. Efficient and easy to perform screening tools are needed to help dermatologists effectively discriminate between Pso and PsA patients.

Reliability of the OMERACT Giant cell arteritis Ultrasonography Score (OGUS): results of a patient-based exercise involving experts and non-experts in vascular ultrasonography.

Objective: To test the reliability of the Outcome Measures in Rheumatology Giant cell arteritis (GCA) Ultrasonography Score (OGUS) and other composite scores in a patient-based exercise involving experts and non-experts in vascular ultrasonography.

Methods: Six GCA patients were scanned twice (two rounds separated ≥3 hours) by 12 experts and 12 non-experts. Non-experts received 90 min of theoretical and 240 min of practical training between rounds 1 and 2.

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.

Can early diaphragm dysfunction in critically ill ventilated patients predict clinical outcomes? A pilot study.

Aim: Diaphragm dysfunction (DD) is a keystone factor in difficult weaning from invasive mechanical ventilation (IMV). Diaphragm ultrasound (DUS) is the preferred method for the evaluation of diaphragm function in the Intensive Care Unit (ICU) setting, namely through the diaphragm thickening fraction (DTF). However, its potential role in the decision-making process of mechanical ventilation weaning is yet to be established.

Addressing Challenges to Enhance Clinical Research in Portugal: Insights from the OncoT3 Expert Group Delphi Study.

Introduction Over the past decades, clinical research has evolved significantly, driven by advances in regulatory frameworks, technological innovations, and methodological approaches. In Portugal, while there has been progress - such as increased regulatory alignment with European standards and the adoption of digital trial management tools - various challenges remain. These may include, among others, limited access to funding, slower patient recruitment rates, and regulatory hurdles that can delay trial approvals.

Standards for Quality Improvement Registries on Abdominal Aortic Aneurysm Repair: A Delphi Consensus Report From VASCUNET and International Consortium of Vascular Registries.

Objective: Outcome registries in vascular surgery are increasingly used to drive quality improvement by vascular societies. The VASCUNET collaboration, within the European Society for Vascular Surgery (ESVS), and the International Consortium of Vascular Registries (ICVR) developed a set of variables for quality improvement registries on abdominal aortic aneurysm (AAA) repair as a registry standard.

Methods: Representatives from international vascular registries within VASCUNET, ICVR, and other nations with established registries were invited to provide the variables.

A single-center case study series assessing the effect of selumetinib use in patients with neurofibromatosis-related plexiform neurofibromas.

Background: Neurofibromatosis type 1 (NF1) is a common genetic disorder of phenotypic variability with age-dependent penetrance. This study describes the diagnosis, clinical characterization, management, and outcomes of a large patient cohort with plexiform neurofibroma (PN) treated with selumetinib in a real-world clinical setting.

Methods: This single-center observational study consecutively enrolled patients with NF1-PN treated with selumetinib from April 2018 to 2023.

Kallmann Syndrome: Functional Analysis of a Missense Variant Shows Aberrant RNA Splicing.

Kallmann syndrome is a rare disorder characterized by hypogonadotropic hypogonadism and an impaired sense of smell (anosmia or hyposmia) caused by congenital defects in the development of the gonadotropin-releasing hormone (GnRH) and olfactory neurons. Mutations in several genes have been associated with Kallmann syndrome. However, genetic testing of this disorder often reveals variants of uncertain significance (VUS) that remain uninterpreted without experimental validation.

C-reactive Protein Variation and Its Usefulness in the Prognostication and Monitoring of Patients With Pneumococcal Pneumonia.

Background and objective Community-acquired pneumonia (CAP) is a prevalent and life-threatening infection that causes significant morbidity and mortality. Biomarkers, such as C-reactive protein (CRP), can help to diagnose, monitor, and prognose patients with this condition. This study aimed to analyze the disease course, the CRP peak concentration, its relationship with prognosis, and its variation in hospitalized patients with pneumococcal CAP.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.

Radiologic Clue to Cavernous Sinus Hemangioma Diagnosis.

We describe a case of a 57-year-old woman presenting initially with diplopia who later developed retro-orbital and retroauricular pain. Examination showed right abducens nerve palsy and subsequent right trigeminal nerve hyperesthesia. Neuroimaging revealed a well-defined mass confined to the right cavernous sinus, with high T2 signal intensity and homogeneous enhancement on postgadolinium T1-weighted images.

Effects of eplontersen on symptoms of autonomic neuropathy in hereditary transthyretin-mediated amyloidosis: secondary analysis from the NEURO-TTRansform trial.

Background: The NEURO-TTRansform trial showed that after 66 weeks of treatment, eplontersen significantly reduced neuropathic impairment and improved quality of life (QoL) in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy (ATTRv-PN). In this secondary analysis from NEURO-TTRansform, autonomic impairment, and the impact of eplontersen on autonomic impairment progression was evaluated through 85 weeks in patients randomised to eplontersen ( = 144) versus external placebo ( = 60; through Week 66 from the NEURO-TTR trial).

Methods: Change from baseline in modified Neuropathy Impairment Score +7 (mNIS+7) composite score, Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QoL-DN) total score, and the Neuropathy Symptoms and Change (NSC) total score was evaluated.

Sequential adaptive e-learning and hands-on simulator training for unilateral biportal endoscopy (UBE) of the lumbar spine - results from an EANS Young Neurosurgeons hands-on course.

Introduction: Unilateral biportal endoscopy (UBE) is a minimally invasive surgical (MIS) technique utilized for lumbar decompression, which has recently gained popularity in Europe. We aimed to explore the value of sequential adaptive e-learning, followed by simulator-based hands-on training modules for UBE at the occasion of the 2024 EANS Young Neurosurgeons meeting.

Materials And Methods: An adaptive e-learning was designed by learning engineers (Area 9 Lyceum), based on theoretical content provided by two endoscopic spine surgeons.

Improving organisation to improve care: ERN ReCONNET organisational reference model for systemic sclerosis patients' care pathway.

Objective: To optimise the organisation of care and encourage the adoption of good clinical practices, the RarERN Path methodology was designed within ERN ReCONNET. The aim of our work was to report the application of RarERN Path on systemic sclerosis within the ERN ReCONNET centres, providing a feasible and flexible organisational reference model for optimising the systemic sclerosis care pathway in different countries.

Methods: RarERN Path is a six-phase methodology which enables the creation of a reference organisational model co-designed on the basis of the expertise of different stakeholders.

Perceived discrepancies in neurosonology training and certification across Europe: a RRFS/EAN survey.

Introduction: Neurosonology is a vital paraclinical investigation in modern neurology. However, access to education and certification in neurosonology for neurology residents and young specialists in Europe is challenging, and comprehensive data regarding this topic are scarce. Information regarding difficulties in neurosonology training across Europe may help bring this topic under the spotlight and act as a call for the harmonization of curricula across the continent.

Macropolycytes as a sepsis biomarker.

A 16-year-old male patient who underwent a kidney transplant developed a septic shock. A full blood count (FBC) was performed and the presence of monocytosis in the automatic FBC, the overlap between neutrophils and monocytes in the WBC scatter plot, and a "MO blast" flag triggered by the analyzer, led to a peripheral blood film (PBF). PBF revealed the presence of macropolycytes that were erroneously count as monocytes by the analyzer.

A Randomized Controlled Trial Assessing the Release of Circulating Tumor and Mesenchymal Cells in No-Touch Radical Nephrectomy.

Background: Circulating tumor cells (CTCs) may be the missing renal cell carcinoma (RCC) biomarker. No-touch (NT) resection has shown benefit in several tumors.

Methods: A randomized controlled trial comparing CTC and circulating mesenchymal cell (CMC) release in no-touch (NT) vs.