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Background: Early-onset sepsis (EOS) is responsible for an important fraction of neonatal morbidity and mortality all over the world. The aim of this study was to assess whether presepsin (P-SEP) can be a more accurate biomarker of EOS compared with pro-calcitonin (PCT) and C-reactive protein (CRP). Study design: Consecutive preterm neonates (<34 wk gestational age, admitted to Neonatal Intensive Care Unit by 6 h of age and undergoing sepsis evaluation) were recruited as part of a case-matched control study. We determined CRP, PCT and P-SEP at admission, and then at 12, 24, and 48 h of age. Neonates recruited into the study were divided into the EOS group ( n = 32) and the uninfected group ( n =38) according to their infection screening. Results: P-SEP values were significantly higher in the EOS group than in the uninfected group at different time intervals. The highest accuracy was achieved by P-SEP at 24 h after birth. The AUC for P-SEP was 0.97. In our sample, P-SEP achieved the best accuracy for prediction of EOS at the cut-off of 788 ng/l with 93% sensitivity and 100% specificity. Conclusions: This study shows that P-SEP is significantly higher in preterm infants with EOS compared with uninfected infants.

BackgroundThe relation between glucose homeostasis and outcome in hypoxic-ischemic encephalopathy (HIE) is unclear. To investigate whether glucose abnormalities assessed by using continuous interstitial glucose monitoring (CGM) correlate with later neurological outcomes in HIE.MethodsProspective cohort study recruiting full-term neonates who received therapeutic hypothermia for HIE. CGM devices were placed soon after birth and recorded glucose profile for 3 days. The association between hypoglycemia (≤50 mg/dL), hyperglycemia (>144 mg/dL) and primary outcome defined as death or moderate or severe disability was examined with generalized estimating equations adjusted for Apgar scores, umbilical artery pH and base deficit. Neurodevelopmental outcome was assessed between 18 and 24 months.ResultsFifty-four neonates had outcome data available for the analysis; 19 of them (35%) had adverse outcome. Longer duration of hypoglycemia (OR 7.1, 95% CI 1.8–20.3, P < 0.001) and hyperglycemia (OR 5.4, 95% CI 1.6–15.7, P < 0.001), a greater area under the hypoglycemic (OR 2.6, 95% CI 1.4–4.6, P = 0.04) and hyperglycemic (OR 6.4, 95% CI 1.9–16.3, P < 0.001) curve were significantly associated with adverse outcomes.ConclusionBoth hyper and hypoglycemia may be associated with adverse outcome in neonates with HIE. Future studies are needed to assess their prognostic association with neurological outcome.ImpactGlucose abnormalities during therapeutic hypothermia are associated with later neurological outcomes.Increased glucose variability correlates to the neurological outcome between 18 and 24 months.This study provides the first data on the continuous glucose profile in a group of HIE infants followed up to 2 years of age.Glucose homeostasis represents a key point in the management of HIE patients.Further research is needed to find the appropriate glycemic target in this population.

TBX4 gene, located on human chromosome 17q23.2, encodes for T-Box Transcription Factor 4, a transcription factor that belongs to the T-box gene family and it is involved in the regulation of some embryonic developmental processes, with a significant impact on respiratory and skeletal illnesses. Herein, we present the case of a female neonate with persistent pulmonary hypertension (PH) who underwent extracorporeal membrane oxygenation (ECMO) on the first day of life and then resulted to have a novel variant of the TBX4 gene identified by Next-Generation Sequencing. We review the available literature about the association between PH with neonatal onset or emerging during the first months of life and mutations of the TBX4 gene, and compare our case to previously reported cases. Of 24 cases described from 2010 to 2023 sixteen (66.7%) presented with PH soon after birth. Skeletal abnormalities have been described in 5 cases (20%). Eleven cases (46%) were due to de novo mutations. Three patients (12%) required ECMO. Identification of this variant in affected individuals has implications for perinatal and postnatal management and genetic counselling. We suggest including TBX4 in genetic studies of neonates with pulmonary hypertension, even in the absence of skeletal abnormalities.

Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated with NS, where it may occur independently of hypertrophic cardiomyopathy. Trametinib, a highly selective MEK1/2 inhibitor currently approved for the treatment of cancer, has been shown to reverse left ventricular hypertrophy in two RIT1-mutated newborns with NS and severe hypertrophic cardiomyopathy. Severe lymphatic abnormalities may contribute to decreased pulmonary compliance in NS, and pulmonary lymphangiectasias should be included in the differential diagnosis of a newborn requiring prolonged oxygen administration. Herein we report the case of a pre-term newborn who was admitted to our unit for the occurrence of severe respiratory distress and subentrant MAT treated with trametinib.

Vitamin D is increasingly recognized as a key regulator of epithelial barrier integrity and mucosal immune homeostasis, with implications extending far beyond skeletal health. Through the vitamin D receptor (VDR), vitamin D regulates epithelial cohesion, innate immune responses, and tight-junction gene expression. This review explores the multifactorial role of vitamin D in modulating inflammation and preserving tissue barriers, with particular emphasis on its effects on tight junction (TJ) regulation and disease states characterized by barrier dysfunction, namely atopic dermatitis, psoriasis, inflammatory bowel disease (IBD), and celiac disease. In these settings, vitamin D/VDR signaling exerts protective actions by enhancing barrier structure, suppressing Th1/Th17-driven inflammation, modulating the gut and skin microbiome, and promoting epithelial repair. Animal studies and clinical data suggest that vitamin D supplementation can restore TJ expression, reduce disease activity, and improve clinical outcomes in both intestinal and dermatologic diseases. In the cardiovascular system, the role of vitamin D remains complex. While vitamin D influences endothelial function, insulin sensitivity, and systemic inflammation, supplementation trials yield mixed results, indicating a need for individualized approaches. Overall, this review synthesizes mechanistic, translational, and clinical data supporting vitamin D as a crucial modulator of barrier integrity and inflammation. These findings highlight its therapeutic relevance in chronic diseases characterized by immune dysregulation and epithelial disruption.

Atopic dermatitis (AD) is a chronic inflammatory skin disease marked by impaired barrier function and immune dysregulation. This study explores transcriptomic differences between lesional (IL) and perilesional (PL) skin in patients with AD, focusing on barrier-related and vitamin D-associated pathways. RNA sequencing was performed on matched IL and PL biopsies from 21 adults with moderate-to-severe AD. Differential gene expression, pathway enrichment, and correlation analysis with clinical variables were assessed. A total of 8817 genes were differentially expressed in IL versus PL skin (padj < 0.05). Among genes with the highest level of dysregulation, strong upregulation was observed for inflammatory mediators (IL-19, IL-8, CXCL6), and epidermal remodeling and barrier-disrupting genes (MMP1, GJB2). The vitamin D pathway genes CYP27B1 and CYP24A1 were also significantly upregulated. In contrast, key barrier-related genes such as FLG2 and CGNL1 were markedly downregulated. While some patterns in gene expression showed subgroup-specific trends, no independent clinical predictors emerged in multivariate models. Reactome pathway analysis revealed the enrichment of pathways involved in keratinization, cornified envelope formation, IL-4/IL-13 signaling, chemokine activity, and antimicrobial responses, highlighting coordinated structural and immunologic dysregulation in lesional skin. Lesional skin in AD displays a distinct transcriptomic profile marked by barrier impairment, heightened inflammatory signaling, and activation of vitamin D-related pathways. These findings provide the first RNA-seq-based comparison of IL and adjacent PL skin in AD. We identify subclinical activation in PL skin and vitamin D pathway upregulation with disrupted gene coordination in lesions. These findings enhance our understanding of the molecular mechanisms underlying inflammation in AD.

Sulfated hyaluronic acid (sHA) is a chemically modified derivative of native hyaluronic acid (HA), characterized by enhanced physicochemical stability and increased biological activity. Glycosaminoglycans (GAGs), including HA, are key regulators of skin structure, hydration, and immune homeostasis. This review aims to critically summarize current knowledge on the structural and functional properties of GAGs-particularly HA and its sulfated forms-and to explore their potential dermatological applications in skin aging and inflammatory diseases such as atopic dermatitis, psoriasis, and acne. A narrative literature review was conducted using PubMed and Scopus databases up to June 2025, including experimental, preclinical, and clinical studies investigating the biological effects, mechanisms of action, and dermatological uses of sHA compared with native HA and other HA derivatives. Compared with HA, sHA demonstrates increased enzymatic resistance, higher charge density, and improved water-binding and antioxidant capacity. These properties contribute to the restoration of skin barrier function, modulation of oxidative stress and inflammation, and promotion of extracellular matrix remodeling. Preclinical evidence supports the efficacy of sHA in reducing dryness, irritation, and inflammatory responses in atopic dermatitis, psoriasis, and acne. Preliminary findings also suggest potential benefits in wound healing and skin barrier repair. sHA represents a promising multifunctional molecule in dermatology and cosmetology, capable of reducing inflammation and supporting tissue regeneration. However, current evidence remains limited to preliminary studies. Future controlled clinical trials are required to confirm efficacy, optimize formulations, and establish standardized treatment protocols.

Keratoacanthoma (KA) is a rapidly growing epithelial neoplasm characterized by clinical and histopathological features that often overlap with well-differentiated squamous cell carcinoma (SCC), posing diagnostic challenges. This review provides a comprehensive overview of KA, emphasizing advances in non-invasive diagnostic techniques such as dermoscopy, reflectance confocal microscopy (RCM), and line-field confocal optical coherence tomography (LC-OCT), which improve lesion characterization and differentiation from SCC. We discuss the histopathological phases of KA and highlight key features aiding in diagnosis. Furthermore, we explore the emerging role of human papillomavirus (HPV), particularly β-genus types, as a cofactor in KA carcinogenesis through modulation of apoptosis and DNA damage response pathways, especially under ultraviolet (UV) radiation exposure. Therapeutic strategies remain centered on complete surgical excision; however, alternative treatments, including radiotherapy, cryotherapy, topical agents, and systemic retinoids, are discussed with their respective benefits and limitations. Finally, we review current HPV vaccines and novel vaccine candidates targeting a broad spectrum of mucosal and cutaneous HPV types. This review underscores the importance of integrated diagnostic and therapeutic approaches to optimize KA management and highlights future directions in understanding its pathogenesis and treatment.

Omalizumab is not considered a disease-modifying drug and, accordingly, a large proportion of patients experience a relapse following withdrawal from treatment.  A total of 42 patients who underwent at least one cycle of treatment with omalizumab were enrolled. Two groups of relapsed and not-relapsed subjects were compared. Then, patients were divided into subgroups. Female patients relapse more frequently than male subjects. Patients who relapsed complained a long duration of disease, while patients who did not relapse had short a history of disease. Very early responders are thought to have a high recurrence rate. Basal IgE levels were increased in early responders and cholesterol levels were high in very early responders, who relapse following withdrawal from omalizumab. High D-dimer levels were observed in late responders. The identification of clinical and serological predictors will play a pivotal role in the future management of patients treated with omalizumab.

Background and objectives: In cases of acute type A aortic dissection, including iatrogenic cases following transcatheter procedures, the choice of arterial cannulation site has a critical influence on early haemodynamics, organ protection and the risk of malperfusion. Transapical left ventricular cannulation has been suggested as a ‘central’ approach for rapidly establishing cardiopulmonary bypass with antegrade true-lumen flow. This review summarises the current evidence on TAC in acute type A dissection, focusing on indications, technical aspects and clinical outcomes. Materials and methods: We conducted a narrative review of observational studies and technical reports describing TAC for the surgical repair of acute type A aortic dissection. Particular attention was paid to patient selection, operative technique, perioperative complications, and early and mid-term results. Results: Across the published series, TAC is primarily employed in haemodynamically unstable patients or when the peripheral arteries are dissected, diseased, or unsuitable. A long arterial cannula is introduced through the left ventricular apex, crosses the aortic valve and is positioned in the true lumen of the ascending aorta under echocardiographic guidance. This configuration enables the rapid initiation of CPB, shortens skin-to-pump times, and provides reliable antegrade inflow. Early mortality and stroke rates are comparable to those associated with other cannulation strategies. Reported complications include malperfusion requiring site conversion, apical bleeding and rare local structural damage. These can be minimised through standardised technique and systematic imaging. Conclusions: TAC is a valuable bail-out option and, in selected patients, a primary cannulation option for acute type A aortic dissection when conventional arterial access is unsafe or ineffective. Although it offers fast and reproducible establishment of antegrade true-lumen flow, it requires specific expertise in apical exposure and intraoperative echocardiography. It should therefore be integrated into a structured perfusion and repair strategy.