N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.

Background: CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.

Machine learning applications in healthcare clinical practice and research.

Machine learning (ML) is a type of artificial intelligence that assists computers in the acquisition of knowledge through data analysis, thus creating machines that can complete tasks otherwise requiring human intelligence. Among its various applications, it has proven groundbreaking in healthcare as well, both in clinical practice and research. In this editorial, we succinctly introduce ML applications and present a study, featured in the latest issue of the .

Combination of clinical factors predicts successful glucocorticoid withdrawal in systemic lupus erythematosus (SLE): results from a multicentre, retrospective cohort study.

Objective: Glucocorticoid (GC) tapering and withdrawal to reduce damage represents a key aspect of the European Alliance of Associations for Rheumatology (EULAR) SLE recommendations. However, optimal strategies for relapse-free GC cessation remain ill-defined. We characterised clinical predictors and their combined effect on flares in patients with SLE who discontinued GC.

Expedited Conveyance of Out-of-Hospital-Cardiac Arrest patients with STEMI and shockable rhythms to Cardiac Arrest Centres - A Feasibility Pilot Study of the British Cardiovascular Intervention Society conveyance algorithm.

Background And Aims: Guidelines suggest non-traumatic out-of-hospital cardiac arrest (OHCA) be conveyed to cardiac arrest centres (CAC). We hypothesised that (a) a pre-hospital conveyance algorithm based on initial presenting rhythm following OHCA is feasible and (b) that would demonstrate survival advantage.

Methods: This observational pilot study included all consecutive patients with OHCA from suspected cardiac aetiology from the county of Essex, United Kingdom from April 2022-April 2023.

An automated method of streamlining waiting list by clinical risk fast-tracking for patients awaiting TAVR: SWIFT TAVR algorithm.

Introduction: Transcatheter aortic valve replacement (TAVR) is increasingly in demand for treating severe aortic stenosis in a variety of surgical risk profiles. This means increasing wait times and elevated morbidity and mortality on the waitlist. To address this, we developed the SWIFT TAVR algorithm to prioritize patients based on clinical risk and reduce wait times.

Clot signature in patients with large vessel occlusion stroke and concomitant active cancer.

Background And Purpose: Patients with active cancer face an increased risk of ischemic stroke. Also, stroke may be an initial indicator of cancer. In patients with large vessel occlusion (LVO) stroke treated with thrombectomy, analysis of the clot composition may contribute new insights into the pathological connections between these two conditions.

Early life acute infections and risk for cow's milk protein allergy or atopic dermatitis at 6 months of age in high risk for allergy infants.

Background: Early life infections (ELIs), encompassing both viral and bacterial types, occur within the first six months of life. Influenced by genetic host factors and environmental conditions, the relationship between ELIs and subsequent allergic manifestations, particularly cow's milk protein allergy (CMPA) and atopic dermatitis (AD), is complex and not fully understood.

Objective: The aim of the current study was to examine the potential interplay between nutrition, infections, and allergic manifestations in the first six months of life in infants with a family history of allergies, who were either exclusively breastfed (EBF) or fed a combination of breast milk and standard (SF) or partially hydrolyzed infant formula (pHF).

Impact of C-FOS/C-JUN Transcriptional Factors Co-Expression in Non-small Cell Lung Carcinoma.

Background/aim: Significant transcription factors - including c-Fos (gene locus: 14q24.3) and c-Jun (gene locus: 1p32-p31) - regulate cell homeostasis preventing abnormal signal transduction to nucleus. Their over-activation seems to be associated with an aggressive phenotype in non-small cell lung carcinomas (NSCLCs).

Detection rate for ESR1 mutations is higher in circulating-tumor-cell-derived genomic DNA than in paired plasma cell-free DNA samples as revealed by ddPCR.

Plasma cell-free DNA (cfDNA) analysis to track estrogen receptor 1 (ESR1) mutations is highly beneficial for the identification of tumor molecular dynamics and the improvement of personalized treatments for patients with metastatic breast cancer (MBC). Plasma-cfDNA is, up to now, the most frequent liquid biopsy analyte used to evaluate ESR1 mutational status. Circulating tumor cell (CTC) enumeration and molecular characterization analysis provides important clinical information in patients with MBC.

Ultra-Processed Foods and Childhood Obesity: Current evidence and perspectives.

Purpose Of The Review: Ultra-processed foods (UPFs) represent foods that have undergone substantial industrial processing, such as the addition of preservatives and various other ingredients, thereby making them more tasty, appealing and easy to consume. UPFs are often rich in sugars, saturated fats and salt, while they are low in essential nutrients.The aim of this review is to examine the relationship between the widespread consumption of UPFs and the development of obesity among children and adolescents.

Viruses and psychiatric disorders: We have not crossed the borderline from hypothesis to proof yet (Review).

Most psychiatric disorders are heterogeneous and are attributed to the synergistic action of a multitude of factors. It is generally accepted that psychiatric disorders are the outcome of interactions between genetic predisposition and environmental perturbations, which involve psychosocial stress, or alterations in the physiological state of the organism. A number of hypotheses have been presented on such environmental influences that may include direct insults such as injury, malnutrition and hostile living conditions, or indirect sequelae following infection from viruses such as influenza, arboviruses, enteroviruses and several herpesviruses, or the differential expression of human endogenous retroviruses.

A Narrative Review of Combat Sports Injuries With a Particular Focus on Cervical Spine Injuries.

Combat sports encompass a wide range of disciplines, each associated with distinct injury patterns and mechanisms. From karate to wrestling, athletes face varying degrees of injury risks, with common clinical presentations including head injuries, strains, sprains, fractures, and concussions. These injuries often result from dynamic movements, physical contact, and high-impact collisions inherent to combat sports.

Clinical remission in patients with severe eosinophilic asthma treated with mepolizumab: A analysis of RELIght study.

Remission of asthma can occur as part of the natural history of the disease; however, the use of biologics can result in disease remission in some patients. In this post hoc analysis of the RELIght study, we aimed to evaluate clinical remission in real life among patients treated with mepolizumab, to detect possible differences between "remitters" and "nonremitters," and to evaluate possible predictors of remission. Clinical remission was defined as the absence of asthma exacerbations, discontinuation of oral corticosteroids (OCS), achievement of asthma control (Asthma Control Test [ACT] ≥ 20), and stable or improved lung function.

Identification of a T2-hyperintense Perivascular Space in Brain Arteriovenous Malformations.

Background/aim: Brain arteriovenous malformations (AVMs) are vascular malformations characterized by dysmorphic, aberrant vasculature. During previous surgeries of compact nidus brain AVMs (representing the majority of cases), we have observed a "shiny" plane between nidal and perinidal AVM vessels and the surrounding grey and white matter and hypothesized that preoperative neuroimaging of brain AVMs may show a neuroradiological correlate of these intraoperative observations.

Patients And Methods: We retrospectively reviewed and analyzed multiplanar and multisequence 3-Tesla magnetic resonance (3T MR) imaging in five consecutive brain AVMs with special attention on imaging characteristics of the brain-AVM interface, i.

Up-regulation of Cuproptosis-related lncRNAS in Patients Receiving Immunotherapy for Metastatic Clear Cell Renal Cell Carcinoma Indicates Progressive Disease.

Background/aim: Clear cell renal cell carcinoma (ccRCC) represents the most common type of renal cancer. When resectable, nephrectomy is the only radical treatment for ccRCC, however metastasis is already present at 30% of the patient population. Although great progress has been made in the field of targeted therapy with the emergence of immune checkpoint inhibitors (ICIs) the cure of metastatic ccRCC (mccRCC) remains far from achieved.

Bone and muscle mass characteristics in patients with gastroenteropancreatic neuroendocrine neoplasms.

Background: Neuroendocrine neoplasms (NEN) are rare tumors arising from neuroendocrine cells most commonly in the gastrointestinal-tract. In recent years, advancements in therapeutics have increased survival rates in patients with NEN leading to a greater clinical burden compared to the general population.

Methods: The aim of this single-center case-control study was to investigate the incidence of low bone mass and changes in body composition in adult patients diagnosed with gastroenteropancreatic neuroendocrine tumors (GEPNET).

Successful Pregnancy in a Poor Responder: Natural In Vitro Fertilization, Menopause Treatment With Oral Contraceptives, and Anti-Müllerian Hormone as a Predictor.

The study focuses on spontaneous conception after menopause in a woman with primary ovarian insufficiency (POI), with an emphasis on the role of anti-Müllerian hormone (AMH) in fertility management. This case involves a 33-year-old woman with POI who has experienced both aided and spontaneous pregnancies. She had low AMH and high follicle-stimulating hormone (FSH) levels, which typically indicate a limited ovarian reserve.

HIV Disclosure and Low HIV Stigma in a Gay Serodiscordant Couple: An Interpretative Phenomenological Case Study of the Discloser-Confidant Dynamics.

Introduction HIV stigma levels are high in Greece. HIV stigma hinders testing, healthcare access, and treatment adherence, often leading to non-disclosure. The discloser navigates challenges by balancing the confidant's potential reactions, ranging from rejection and discrimination to the benefits of increased intimacy and liking.

Could Fibrin Sealants (TISSEEL) Be Effective in the Management of Burn Injuries? A Histopathological Study in Rats.

Burn injuries remain a major clinical problem worldwide, which require special management by experienced plastic surgeons. However, they cannot be available in every healthcare unit; consequently, there is a need for effective treatment options that could be utilized by a wide range of non-expert healthcare professionals. The aim of the present experimental study was to investigate the safety and efficacy of using a fibrin sealant (TISSEEL) compared to the conventional treatment with sulfadiazine on partial-thickness burn in a rat animal model.

Evaluating Brain Tumor Detection with Deep Learning Convolutional Neural Networks Across Multiple MRI Modalities.

Central Nervous System (CNS) tumors represent a significant public health concern due to their high morbidity and mortality rates. Magnetic Resonance Imaging (MRI) has emerged as a critical non-invasive modality for the detection, diagnosis, and management of brain tumors, offering high-resolution visualization of anatomical structures. Recent advancements in deep learning, particularly convolutional neural networks (CNNs), have shown potential in augmenting MRI-based diagnostic accuracy for brain tumor detection.

"Chasing Rainbows" Beyond Kaposi Sarcoma's Dermoscopy: A Mini-Review.

The dermoscopic rainbow pattern (RP), also known as polychromatic pattern, is characterized by a multicolored appearance, resulting from the dispersion of polarized light as it penetrates various tissue components. Its separation into different wavelengths occurs according to the physics principles of scattering, absorption, and interference of light, creating the optical effect of RP. Even though the RP is regarded as a highly specific dermoscopic indicator of Kaposi's sarcoma, in the medical literature, it has also been documented as an atypical dermoscopic finding of other non-Kaposi skin entities.

Long COVID: Pathophysiology, current concepts, and future directions.

Long COVID, an umbrella term referring to a variety of symptoms and clinical presentations that emerges in a subset of patients after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, has a significant effect on quality of life and places a substantial burden on health care systems worldwide, straining financial and human resources. The pathophysiology of long COVID remains incompletely understood, though several hypotheses have been proposed to explain different aspects of this complex condition. SARS-CoV-2 persistence, direct organ damage, innate and adaptive immune system perturbation, autoimmunity, latent virus reactivation, endothelial dysfunction, and microbiome disturbances are among the most relevant avenues for elucidating the evolution, complexity, and mechanisms of long COVID.

Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report.

A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as "clinodactyly" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease.