Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms. However, emerging phenotypes, including neurodevelopmental comorbidities, are being reported in some treated SMA patients, indicative of alterations in brain development.

Early-Start vs. Late-Start Icodextrin for Children Receiving Chronic Peritoneal Dialysis: Findings from the International Pediatric Peritoneal Dialysis Network.

Background: Experience with icodextrin use in children on long-term peritoneal dialysis is limited. We describe international icodextrin prescription practices and their impact on clinical outcomes: ultrafiltration, blood pressure control, residual kidney function (RKF), technique and patient survival.

Methods: We included patients under 21 years enrolled in the International Pediatric Peritoneal Dialysis Network (IPPN) between 2007 and 2024, on automated PD with a daytime dwell.

Antithrombin-binding heparan sulfate is ubiquitously expressed in epithelial cells and suppresses pancreatic tumorigenesis.

3-O-sulfation of heparan sulfate (HS) is the key determinant for binding and activation of Antithrombin III (AT). This interaction is the basis of heparin treatment to prevent thrombotic events and excess coagulation. Antithrombin-binding HS (HSAT) is expressed in human tissues, but is thought to be expressed in the subendothelial space, mast cells, and follicular fluid.

One-year outcomes of polymer-free Sirolimus-eluting stents in complex femoropopliteal stenosis: a single center real-world registry.

Background: Lower extremity arterial disease is a prevalent vascular condition leading to ischemic symptoms and increased risk of cardiovascular events. Drug-eluting stents have improved outcomes by reducing restenosis, with sirolimus emerging as a promising alternative to paclitaxel due to its safer profile. This study evaluates the efficacy and safety of novel polymer-free Amphilimus formulation (Sirolimus + fatty acid) eluting self-expanding stent in the treatment of femoropopliteal disease in a real-world population.

Synovial MS4A4A correlates with inflammation and counteracts response to corticosteroids in arthritis.

MS4A4A belongs to the MS4A tetraspan protein superfamily and is selectively expressed by the monocyte-macrophage lineage. In this study, we aimed to evaluate the role of MS4A4A+ macrophages in rheumatoid arthritis (RA) pathogenesis and response to treatment. RNA sequencing and immunohistochemistry of synovial samples from either early treatment-naïve or active chronic RA patients showed that MS4A4A expression positively correlated with synovial inflammation.

Management of ocular toxicity in patients with gynecologic cancer receiving novel antibody-drug conjugates: a narrative review.

Antibody-drug conjugates (ADCs) represent a promising therapeutic approach in gynecologic cancers, particularly ovarian and cervical malignancies. Agents such as mirvetuximab soravtansine, and tisotumab vedotin, targeting folate receptor alpha and tissue factor, respectively, reported clinical efficacy in patients with limited options. However, their use is associated with ocular toxicities, including keratopathy, blurred vision, and dry eye, which may impact adherence and quality of life.

Benefit-Risk Assessment of GLP-1 Receptor Agonists: Implications for Dermatologists and Plastic Surgeons.

Glucagon-like peptide 1 receptor agonists (GLP-1 RAs) have gained prominence for their efficacy in treating type 2 diabetes and obesity. Recent evidence suggests that their pleiotropic effects-beyond glycemic control and weight loss-include anti-inflammatory, immunomodulatory, and antioxidative effects, which may beneficially support various dermatologic conditions such as psoriasis, hidradenitis suppurativa, acanthosis nigricans, and Hailey-Hailey disease. However, GLP-1 RAs are also associated with emerging cutaneous adverse drug reactions, including bullous, exanthematous and vasculitic manifestations, and other rare side effects.

Targeting the Epigenetic Remodeler GCN5 Prevents Vascular Oxidative Stress and Endothelial Dysfunction in Obesity: Insights in Patients with Cardiometabolic Disease.

Introduction: Epigenetic changes are important modulators of gene expression. The histone acetyltransferase gene non-derepressible 5 (Gcn5) is emerging as a pivotal epigenetic player in metabolism and cancer, yet its role in obesity and cardiovascular disease remains elusive.

Aims: To investigate Gcn5 role in obesity-related endothelial dysfunction.

Statins in Acute Ischemic Stroke: Mechanisms, Resistance, and Precision Strategies for Neurovascular and Cognitive Protection.

Acute ischemic stroke (AIS) remains a leading cause of mortality and long-term disability globally, with survivors at high risk of recurrent stroke, cardiovascular events, and post-stroke dementia. Statins, while widely used for their lipid-lowering effects, also possess pleiotropic properties, including anti-inflammatory, endothelial-stabilizing, and neuroprotective actions, which may offer added benefit in AIS management. This article synthesizes emerging evidence on statins' dual mechanisms of action and evaluates their role in reducing recurrence, improving survival, and mitigating cognitive decline.

Target controlled infusion in the intensive care unit: a scoping review.

Target-controlled infusion (TCI) systems, originally developed for intravenous drug administration of anesthetic drugs, enable precise drug delivery based on pharmacokinetic-pharmacodynamic (PKPD) models. While widely used in the operating room, their application in the intensive care unit (ICU) remains limited despite the complexity of drug dosing in critically ill patients. This scoping review evaluates existing evidence on the use of TCI systems in ICU settings, focusing on sedation, analgesia, and antibiotic administration.

Cerebrovascular malformations different from AVMs in patients with hereditary hemorrhagic telangiectasia: a systematic review.

Background: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vascular formations across multiple organ systems, including the brain. While arteriovenous malformations (AVMs) are well recognized in HHT, non-AVM cerebrovascular malformations remain underreported and poorly understood manifestations of the disease.

Methods: A systematic review was conducted using multiple databases, applying a two-step screening process to exclude studies with insufficient, irrelevant, or incomplete data.

Individual alpha frequency tACS modifies the detection of space-time optical illusion.

Postdiction is a perceptual phenomenon where the perception of an earlier stimulus is influenced by a later one. This effect is commonly studied using the 'rabbit illusion', in which temporally regular, but spatially irregular, stimuli are perceived as equidistant. While previous research has focused on short inter-stimulus intervals (100-200 ms), the role of longer intervals, which may engage late attentional processes, remains unexplored.

Voiding cystourethrography for the pediatric nephrologist: clinical value, challenges, and areas of debate.

Voiding cystourethrography (VCUG) is indicated for evaluating the anatomy of the urethra and bladder. It is primarily used to diagnose vesicoureteral reflux (VUR) and posterior urethral valves (PUV), especially in cases of febrile urinary tract infections (UTIs), significant ureteral dilation on ultrasound, and-in continent children-urinary symptoms suggestive of infravesical obstruction. VCUG exposes children to a non-negligible dose of radiation and requires urethral catheterization, which can be painful-particularly in males-and carries a low but present risk of post-procedural UTI.

Copeptin in the diagnosis and management of renal tubular disorders.

Copeptin, a stable glycopeptide derived from the precursor of arginine vasopressin (AVP), has emerged as a valuable surrogate biomarker for AVP due to its stability and ease of measurement. This narrative review explores the physiological role of copeptin, its utility as a diagnostic and prognostic biomarker in different kidney diseases, and its clinical relevance in renal tubular disorders. The clinical application of copeptin as a diagnostic biomarker is best established in the differential diagnosis of polyuria-polydipsia syndrome (PPS), distinguishing nephrogenic diabetes insipidus (NDI) from central diabetes insipidus (CDI) and primary polydipsia (PP).

Long-term complications in patients with bladder-prostate rhabdomyosarcoma treated with brachytherapy: a systematic review.

Introduction: Brachytherapy has been used for the multimodal treatment of pediatric bladder-prostate rhabdomyosarcoma in the last two decades. The aim of this systematic review is to gather the current evidence about this innovative technique with a special focus on long-term outcomes.

Methods: According to PRISMA criteria, PubMed, Scopus, and Web of Science were searched for papers published between 2000 and 2022.

A Scorecard for Information Synthesis in Multiple Experimental Conditions: Application to Bacterial Biofilm Matrix Transcriptomics.

A Python-scripted software tool has been developed to help study the heterogeneity of gene changes, markedly or moderately expressed, when several experimental conditions are compared. The analysis workflow encloses a scorecard that groups genes based on relative fold-change and statistical significance, providing additional functions that facilitate knowledge extraction. The scorecard reports highlight unique patterns of gene regulation, such as genes whose expression is consistently up- or down-regulated across experiments, all of which are supported by graphs and summaries to characterize the dataset under investigation.

Immunomodulatory effects of the herbicide glyphosate following occupational exposure.

Glyphosate, a widely used herbicide, has raised concerns regarding its impact on human health and the environment due to its widespread and excessive use. Adverse effects on the immune system have been reported. In this study, 26 vineyard workers in Veneto vineyards were examined before and after glyphosate applications to investigate possible immune parameter changes.

Usefulness and timing of the third-trimester ultrasound scan: a review of guidelines and underlying evidence.

Objectives: Recommendations regarding the use of third-trimester ultrasound lack universal consensus. Yet, there is evidence which supports its value in assessing fetal growth, fetal well-being, and a number of pregnancy-related complications. This literature review evaluates the available scientific evidence regarding its applications, usefulness, and the timing of the third-trimester scan in a low-risk population.

The role of personal risk factors in the occurrence of the hand-arm vibration syndrome: a pooled analysis of individual data from Italian cross-sectional and cohort studies.

Purpose: To investigate the role of personal risk factors in the occurrence of the vascular, neurological and fibroproliferative disorders of the hand-arm vibration syndrome (HAVS) in workers groups exposed to hand-transmitted vibration (HTV).

Methods: HAVS prevalence and incidence data were pooled across a series of cross-sectional studies (total sample: 1272 HTV workers, 579 controls) and prospective cohort studies (total sample: 377 HTV workers, 138 controls) conducted in Central and North-Eastern Italy. The pooled studies included detailed individual-level information about HTV exposure, personal risk factors, medical comorbidities and HAVS disorders.