Evaluation of smartphone-based cough data in amyotrophic lateral sclerosis as a potential predictor of functional disability.

Objectives: Cough dysfunction is a feature of patients with amyotrophic lateral sclerosis (ALS). The cough sounds carry information about the respiratory system and bulbar involvement. Our goal was to explore the association between cough sound characteristics and the respiratory and bulbar functions in ALS.

Autoimmune Hemolytic Anemia: A Challenging Complication of Allogeneic Hematopoietic Stem Cell Transplant.

Autoimmune hemolytic anemia (AIHA) is an uncommon but recognized complication of a hematopoietic stem cell transplant (HSCT). Management challenges include the absence of established guidelines and variable response rates to first-line treatments. We present a case series of three patients, all submitted to HSCT for non-oncologic diseases, who developed AIHA as a complication in the following months.

Evaluating the efficacy of AI systems in diabetic retinopathy detection: A comparative analysis of Mona DR and IDx-DR.

Purpose: To compare two artificial intelligence (AI)-based Automated Diabetic Retinopathy Image Assessment (ARIA) softwares in terms of concordance with specialist human graders and referable diabetic retinopathy (DR) diagnostic capacity.

Methods: Retrospective comparative study including 750 consecutive diabetes mellitus patients imaged for non-mydriatic fundus photographs. For each patient four images (45 degrees field of view) were captured, centered on the optic disc and macula.

Rectal synovial sarcoma case report - An unexpected cause of acute lower gastrointestinal bleeding.

Introduction And Importance: Acute lower gastrointestinal bleeding is one of the most common causes of hospital admission. However, massive bleeding is uncommon and is mainly due to hemorrhoidal bleeding in elderly patients receiving anticoagulant therapy. We present a rare case of a massive rectal haemorrhage with an uncommon cause.

Voice Assessment in Patients with Amyotrophic Lateral Sclerosis: An Exploratory Study on Associations with Bulbar and Respiratory Function.

Background: Speech production is a possible way to monitor bulbar and respiratory functions in patients with amyotrophic lateral sclerosis (ALS). Moreover, the emergence of smartphone-based data collection offers a promising approach to reduce frequent hospital visits and enhance patient outcomes. Here, we studied the relationship between bulbar and respiratory functions with voice characteristics of ALS patients, alongside a speech therapist's evaluation, at the convenience of using a simple smartphone.

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.

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.

Decoding mutational hotspots in human disease through the gene modules governing thymic regulatory T cells.

Computational strategies to extract meaningful biological information from multiomics data are in great demand for effective clinical use, particularly in complex immune-mediated disorders. Regulatory T cells (Tregs) are essential for immune homeostasis and self-tolerance, controlling inflammatory and autoimmune processes in many diseases with a multigenic basis. Here, we quantify the Transcription Factor (TF) differential occupancy landscape to uncover the Gene Regulatory Modules governing lineage-committed Tregs in the human thymus, and show that it can be used as a tool to prioritise variants in complex diseases.

F-waves responses derived from low-intensity electrical stimulation: A method to explore split-hand pathogenesis.

Objectives: The "split-hand syndrome" is a common clinical sign in amyotrophic lateral sclerosis (ALS), being characterized by more severe atrophy of the hand muscles on the radial side of the hand compared to the ulnar side. We aimed to investigate possible physiological differences between relevant hand muscles using low-intensity F-wave stimulation to assess spinal motoneuron excitability.

Methods: We recruited 36 healthy volunteers.

Identification of red flags for IgG4-related disease: an international European Reference Network for Rare Connective Tissue Diseases framework.

IgG4-related disease is a rare fibroinflammatory condition. Prompt recognition is fundamental to initiate treatment and to prevent organ damage. Diagnostic and classification criteria are primarily intended for use by clinicians with established expertise in IgG4-related disease.

Cardiophrenic Lymph Node Resection Through Abdominal Subxiphoid Approach: Surgical Technique.

While metastatic extension to the cardiophrenic lymph nodes (CPN) is relatively rare, cardiophrenic lymphadenectomy may be performed for diagnostic and/or therapeutic purposes. The subxiphoid approach is appropriate, especially for CPN in the prepericardiac area, offering adequate exposure while avoiding the morbidity associated with pleural or pericardial breach. In this article, we describe the surgical technique-detailing the retrosternal liberation section of the tranversus abdominis muscle, followed by cardiophrenic dissection and lymphadenectomy.

A global effort to benchmark predictive models and reveal mechanistic diversity in long-term stroke outcomes.

Stroke remains a leading cause of mortality and long-term disability worldwide, with variable recovery trajectories posing substantial challenges in anticipating post-event care and rehabilitation planning. In response, we established the NeuralCup consortium to address these challenges by benchmarking predictive models of stroke outcome through a collaborative, data-driven approach. This study presents the findings of 15 participating teams worldwide who used a comprehensive dataset including clinical and imaging data, to identify and compare predictors of motor, cognitive, and emotional outcomes one-year post-stroke.

Digital health in cardiovascular medicine: An overview of key applications and clinical impact by the Portuguese Society of Cardiology Study Group on Digital Health.

Digital health interventions including telehealth, mobile health, artificial intelligence, big data, robotics, extended reality, computational and high-fidelity bench simulations are an integral part of the path toward precision medicine. Current applications encompass risk factor modification, chronic disease management, clinical decision support, diagnostics interpretation, preprocedural planning, evidence generation, education, and training. Despite the acknowledged potential, their development and implementation have faced several challenges and constraints, meaning few digital health tools have reached daily clinical practice.