Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.

Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that childhood cancer survivors (CCSs) may exhibit immunological abnormalities potentially linked to an underlying IEI, along with a well-known increased risk of subsequent malignancies due to prior cancer treatments. We describe a patient with two composite heterozygous pathogenic variants in the interleukin-2-inducible T-cell kinase () gene and a history of multiple tumors, including recurrent Epstein-Barr virus (EBV)-related nodular sclerosis and Hodgkin's lymphoma (NSHL), associated with unresponsive multiple hand warts, immune thrombocytopenia, and an impaired immunological profile (CD4+ lymphocytopenia, memory B-cell deficiency, reduction in regulatory T-cells, and B-cell- and T-cell-activated profiles).

Role of Blood P-Tau Isoforms (181, 217, 231) in Predicting Conversion from MCI to Dementia Due to Alzheimer's Disease: A Review and Meta-Analysis.

Blood-based biomarkers are minimally invasive tools to detect the pathological changes of Alzheimer's Disease (AD). This meta-analysis aims to investigate the use of blood-derived p-tau isoforms (181, 217, 231) to predict conversion from mild cognitive impairment (MCI) to AD dementia (ADD). Studies involving MCI patients with data on blood p-tau isoforms at baseline and clinical diagnosis at follow-up (≥1 year) were included.

The Role of microRNA Expression and DNA Methylation in HPV-Related Cervical Cancer: A Systematic Review.

Human papillomavirus (HPV) infection is a major etiologic factor in cervical cancer, a major cause of cancer-related morbidity and mortality among women worldwide. The role of microRNA (miRNA) dysregulation in cervical carcinogenesis is still largely unknown, but epigenetic changes, including DNA methylation and miRNA regulation, are crucial factors. The integration of HPV DNA into the host genome can lead to alterations in DNA methylation patterns and miRNA expression, contributing to the progression from normal epithelium to cervical intraepithelial neoplasia and, ultimately, to cervical cancer.

Technology Innovation for Discovering Renal Autoantibodies in Autoimmune Conditions.

Autoimmune glomerulonephritis is a homogeneous area of renal pathology with clinical relevance in terms of its numerical impact and difficulties in its treatment. Systemic lupus erythematosus/lupus nephritis and membranous nephropathy are the two most frequent autoimmune conditions with clinical relevance. They are characterized by glomerular deposition of circulating autoantibodies that recognize glomerular antigens.

New Composite Materials Based on PVA, PVP, CS, and PDA.

In this work, new materials based on the blends of polyvinyl alcohol (PVA), polyvinyl pyrrolidone (PVP), chitosan (CS), and polydopamine (PDA) have been prepared. Fourier Transform Infrared Spectra have been conducted to verify the presence of individual components in the composite materials. EDX elemental analysis showed a clear view of the element's presence in the composite materials, with the maximum values for carbon and oxygen.

The p.R66W Variant in Causes Severe Fetopathy Through Variant-Specific Mechanisms.

encodes a small GTPase of the Rho family that plays a critical role in actin cytoskeleton remodeling and intracellular signaling regulation. Pathogenic variants in , all of which reported thus far affect conserved residues within its functional domains, have been linked to neurodevelopmental disorders characterized by diverse phenotypic features, including structural brain anomalies and facial dysmorphism (NEDBAF). Recently, a novel de novo variant (NM_005052.

Retrospective-Prospective Observational Study of Italian Patients Treated in Melanoma Adjuvant Cohort MAP-MADAM (Maximing ADjuvAnt MAP): Interim Analysis.

: Dabrafenib and trametinib (D + T) have been approved for the treatment of stage III melanoma with BRAF V600E V600K mutations in an adjuvant setting, based on the results from the COMBI-AD trial. To provide early access to this combination therapy prior to its commercial availability in Italy, a Managed Access Program (MAP) was run in Italy from June 2018 to December 2019. : The MADAM (Maximing ADjuvAnt MAP) study is an Italian retrospective-prospective observational study that included patients who received at least one dose of D + T through the MAP.

Pre-Surgical Endoscopic Biopsies Are Representative of Esophageal and Esophago-Gastric Junction Adenocarcinoma Histologic Classes and Survival Risk.

The Esophageal Adenocarcinoma Study Group Europe (EACSGE) recently proposed a granular histologic classification of esophageal-esophago-gastric junctional adenocarcinomas (EA-EGJAs) based on the study of naïve surgically resected specimens that, when combined with the pTNM stage, is an efficient indicator of prognosis, molecular events, and response to treatment. In this study, we compared histologic classes of endoscopic biopsies taken before surgical resection with those of the surgical specimen, to evaluate the potential of the EACSGE classification at the initial diagnostic workup. A total of 106 EA-EGJA cases with available endoscopic biopsies and matched surgical resection specimens were retrieved from five Italian institutions.

Effect of Distress, Anxiety, and Depressive Symptoms on SARS-CoV-2 mRNA BNT162b2 Vaccine Efficacy in Cancer Patients.

Background/objectives: Our previous study of 291 cancer patients, we showed that 20% did not respond to two doses of COVID-19 vaccine administered six weeks apart.

Methods: Here, we investigated if psychological factors (distress, anxiety, and depressive symptoms) affected antibody response and markers of vaccine activation (D-dimer) after 6 months from initial vaccination.

Results: Overall, 31 subjects (14.

Core Outcomes of Self-Care Behaviours in Patients with Breast Cancer Treated with Oral Anticancer Agents: A Systematic Review.

Background/objectives: The use of oral anticancer agents (OAA) dates to the late 20th century in cancer treatment. It is crucial that patients implement self-care behaviours to keep their disease stable and manage their OAA treatment. The three dimensions of self-care according to Riegel et al.

Frailty and Overall Survival of Older Patients Undergoing Radiotherapy for Head and Neck Cancer: A Prospective Analysis.

Background/objectives: Over 60% of diagnoses of head and neck squamous cell carcinoma (HNSCC) occur in patients aged over 65. The benefits of radiotherapy (RT) combined with chemotherapy remain controversial in geriatric patients. Frailty stratification is underutilized in clinical practice despite evidence suggesting its predictive power.

Exploration of simultaneous transients between cerebral hemodynamics and the autonomic nervous system using windowed time-lagged cross-correlation matrices: a CENTER-TBI study.

Background: Traumatic brain injury (TBI) can significantly disrupt autonomic nervous system (ANS) regulation, increasing the risk for secondary complications, hemodynamic instability, and adverse outcome. This retrospective study evaluated windowed time-lagged cross-correlation (WTLCC) matrices for describing cerebral hemodynamics-ANS interactions to predict outcome, enabling identifying high-risk patients who may benefit from enhanced monitoring to prevent complications.

Methods: The first experiment aimed to predict short-term outcome using WTLCC-based convolution neural network models on the Wroclaw University Hospital (WUH) database (P = 31 with 1,079 matrices, P = 16 with 573 matrices).

Faricimab versus the standard of care for neovascular age-related macular degeneration in Italy: an indirect treatment comparison.

Objectives: To assess through an indirect treatment comparison (ITC) the potential benefit of faricimab over the anti-vascular endothelial growth factor (VEGF) real-life scenario, hereby defined standard of care (SoC), in Italy, that is, aflibercept, bevacizumab, and ranibizumab, in patients with neovascular age-related macular degeneration (nAMD) naïve to any anti-VEGF treatment.

Methods: Individual patient-level data from the phase III clinical trials TENAYA and LUCERNE (faricimab cohort) and the real-world study RADIANCE (RADIANCE cohort) were used. Efficacy was evaluated with changes in best corrected visual acuity (BCVA) and central subfield thickness (CST) from baseline to 1 year (week 52 in the RADIANCE and week 48 in the faricimab cohorts, respectively).

Utilizing artificial intelligence for the detection of hemarthrosis in hemophilia using point-of-care ultrasonography.

Background: Recurrent hemarthrosis and resultant hemophilic arthropathy are significant causes of morbidity in persons with hemophilia, despite the marked evolution of hemophilia care. Prevention, timely diagnosis, and treatment of bleeding episodes are key. However, a physical examination or a patient's assessment of musculoskeletal pain may not accurately identify a joint bleed.

Bullous pemphigoid and mucous membrane pemphigoid humoral responses differ in reactivity towards BP180 midportion and BP230.

Background: Bullous pemphigoid (BP) and mucous membrane pemphigoid (MMP) are rare autoimmune blistering disorders characterized by autoantibodies (autoAbs) targeting dermo-epidermal junction components such as BP180 and BP230. The differential diagnosis, based on both the time of appearance and the extension of cutaneous and/or mucosal lesions, is crucial to distinguish these diseases for improving therapy outcomes and delineating the correct prognosis; however, in some cases, it can be challenging. In addition, negative results obtained by commercially available enzyme-linked immunosorbent assays (ELISAs) with BP and MMP sera, especially from patients with ocular involvement, often delay diagnosis and treatment, leading to a greater risk of poor outcomes.

Case report: Non-invasive cyto-salivary sampling and biomarker detection via ELISA versus histopathology for diagnosing oral potentially malignant disorders - Insights from a case-control study.

Oral leukoplakia is classified among oral potentially malignant disorders (OPMDs) by the World Health Organization (WHO). The visual oral examination (VOE) is the most used method for identifying lesions in their early stages. Given that the diagnosis of oral cancer is often late, there is an urgent need for early detection and examination of oral lesions.

Bridging bench to bedside: The evolution and impact of translational research in oncology. The experience of the Gruppo Oncologico Italiano di Ricerca Clinica (GOIRC).

The Gruppo Oncologico Italiano di Ricerca Clinica (GOIRC) is Italy's first cooperative oncology research group, evolving to conduct academic clinical trials since 1985. With 167 publications and collaborations with national and international partners, GOIRC has significantly impacted clinical practices. The group emphasizes training and has developed robust internal standard operative procedures (SOPs) to enhance data quality.

Generalizability of kidney and cardiovascular protection by finerenone to the real world in Italy: insights from Fidelio and Figaro studies.

Background: We evaluated the proportion of Type 2 diabetes (T2D) patients with chronic kidney disease (CKD) participating in the AMD (Association of Medical Diabetologists) Annals initiative who met the eligibility criteria for phase III-studies on finerenone, showing its renal and cardiovascular benefits.

Methods: This analysis involved all T2D patients seen in 2019 in 282 diabetes centers in Italy, for whom data on kidney function (estimated glomerular filtration rate and albuminuria) were available. Data are presented separately for different scenarios, covering the population with main eligibility criteria for inclusion in the FIDELIO-DKD and FIGARO-DKD trials.

Factors influencing the acceptability of automated insulin delivery systems in youths with type 1 diabetes and their parents.

Aims: New technology has been reported as a factor driving people to choose an automatic insulin delivery system (AIDs) and to sustain its acceptance. We aimed to explore the role of continuous glucose monitoring (CGM) technology (instant scanning vs. real-time) and insulin treatment modality to determine the future acceptance of AIDs among T1D individuals.

Non-invasive assessment of portal hypertension in patients with primary biliary cholangitis is affected by severity of cholestasis.

Background&aims: Non-invasive tests (NITs) for ruling-out clinical significant portal hypertension (CSPH) and high-risk varices (HRV) in patients with primary biliary cholangitis(PBC) and compensated advanced chronic liver disease (cACLD) are lacking. We evaluated NITs in these patients and the influence of cholestasis on their performance.

Methods: Consecutive patients from the "Italian PBC registry" and two UK large-volume PBC referral centres with upper endoscopy within 6 months from biochemical evaluation and transient elastography were included.