DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

BRCA1 and BRCA2 mutations testing in prostate cancer: Detection in formalin fixed paraffin embedded (FFPE) and blood samples.

Prostate cancer (PC) represents one of the leading causes of cancer-related morbidity and mortality in men, requiring further understanding to improve diagnosis and treatment. Germline BRCA1/2 mutations, primarily identified in other hereditary cancers, confer an increased risk of developing PC; thus, testing is essential to assess cancer risk, guiding preventive strategies and screening. Recently, somatic BRCA1/2 mutations have emerged as pivotal predictive biomarkers of responsiveness to the poly ADP-ribose polymerase (PARP) inhibitors.

High Sensitivity of Fine-Needle Aspiration Calcitonin in Detecting Medullary Thyroid Carcinoma Is Independent of Predefined Decisional Thresholds.

The measurement of Calcitonin (Ctn) in fine-needle aspiration (FNA) washout fluids (FNA-Ctn) has demonstrated excellent sensitivity, significantly higher than FNA cytology, in detecting medullary thyroid carcinoma (MTC). However, the absence of a fixed cutoff value for FNA-Ctn poses a limitation. This study aimed to investigate whether the sensitivity of FNA-Ctn in detecting MTC varies with different cutoffs reported in the literature.

Tildrakizumab and Quality of Life: Deep Dive into the Impact of Psoriasis and Treatment on Different Domains-Should Psychosocial Life Impairment Be Considered a Comorbidity?

: Psoriasis is a chronic inflammatory skin disease that may have a significant impact on patients' quality of life. Alongside clinical scores, treatment goals include improvements in patients' quality of life, divided into its social, working and psychosocial life aspects. Indeed, psychological impairment should always be considered in the management of moderate-to-severe psoriasis.

Echocardiography in the Ventilated Patient: What the Clinician Has to Know.

Heart and lung sharing the same anatomical space are influenced by each other. Spontaneous breathing induces dynamic changes in intrathoracic pressure, impacting cardiac function, particularly the right ventricle. In intensive care units (ICU), mechanical ventilation (MV) and therefore positive end-expiratory pressure (PEEP) are often applied, and this inevitably influences cardiac function.

Relationship Between Left Atrial Strain and Atrial Fibrillation: The Role of Stress Echocardiography.

Interest in advanced echocardiographic imaging methods is growing. Left atrial strain (LAS) is among recently developed echocardiographic parameters. LAS represents an index of tissue deformation of the left atrium (LA).

Real-world effectiveness and safety of bulevirtide monotherapy for up to 96 weeks in patients with HDV-related cirrhosis.

Background And Aims: Bulevirtide (BLV) 2 mg/day is EMA approved for treatment of compensated chronic hepatitis due to Delta virus (HDV) infection, however real-life data in large cohorts of patients with cirrhosis are lacking.

Methods: Consecutive HDV-infected patients with cirrhosis starting BLV 2 mg/day since September 2019 were included in a European retrospective multicenter real-life study (SAVE-D). Patient characteristics before and during BLV treatment were collected.

Use of psychedelic treatments in psychiatric clinical practice: an EPA policy paper.

Background: Recent years show an exponential increased interest ("renaissance") in the use of psychedelics for the treatment of mental disorders and broader. Some of these treatments, such as psilocybin for depression, are in the process of formal regulation by regulatory bodies in the US (FDA) and Europe (EMA), and as such on the brink of real-world implementation. In the slipstream of these developments increasing commercial initiatives are taking shape.

The baked side: Cow's milk and egg protein threshold dose distributions in children reacting to baked milk and baked egg.

Background: Children allergic to milk and egg, but tolerant to baked products, display higher reactivity thresholds than the general population of children allergic to milk and egg. We sought to verify the reactivity thresholds of milk- and egg-allergic children who also react to baked milk and baked egg, respectively.

Methods: We retrospectively assessed consecutive oral food challenge (OFC) for baked milk and egg between January 2018 and March 2022 in a population of baked milk- and baked-egg allergic children.

Assessing Artificial Intelligence in Oral Cancer Diagnosis: A Systematic Review.

Background: With the use of machine learning algorithms, artificial intelligence (AI) has become a viable diagnostic and treatment tool for oral cancer. AI can assess a variety of information, including histopathology slides and intraoral pictures.

Aim: The purpose of this systematic review is to evaluate the efficacy and accuracy of AI technology in the detection and diagnosis of oral cancer between 2020 and 2024.

Mechanism of syncope: role of ambulatory blood pressure monitoring and cardiovascular autonomic function assessment.

Background And Aims: Identifying the haemodynamic mechanism of autonomic syncope is the essential pre-requisite for effective and personalized therapy aimed at preventing recurrences. The present study assessed the diagnostic efficacy of a two-step assessment.

Methods: Multicentre prospective, cross-sectional, observational study.

Longitudinal association between nailfold capillaroscopy and incident interstitial lung disease: A EUSTAR database analysis.

Objectives: To evaluate (1) the association between nailfold capillaroscopy pattern and 5-year risk for incident interstitial lung disease and (2) the association between transition in nailfold capillaroscopy pattern and risk of incident interstitial lung disease.

Methods: Data of adult patients from the EUSTAR database fulfilling the ACR-EULAR criteria with a disease duration ⩽5 years, having a scleroderma pattern at nailfold capillaroscopy with high-resolution computed tomography confirmed absence of interstitial lung disease (i.e.

Gastroesophageal reflux disease is associated with a more severe interstitial lung disease in systemic sclerosis in the EUSTAR cohort.

Objectives: Gastroesophageal reflux disease (GERD) is frequent in systemic sclerosis (SSc) and could predict progression of interstitial lung disease (ILD). We aimed to analyse (1) the prevalence of GERD among SSc-ILD patients, (2) its association with disease characteristics and (3) predictive factors for ILD progression in SSc-ILD patients with GERD.

Methods: SSc patients from the EUSTAR database with ILD were included.

Polymer-free versus biodegradable-polymer drug-eluting stent in patients undergoing percutaneous coronary intervention: an assessor-blind, non-inferiority, randomised controlled trial.

Background: Few data are available on polymer-free drug-eluting stents in patients undergoing percutaneous coronary intervention (PCI).

Aims: We aimed to determine the efficacy and safety of a polymer-free amphilimus-eluting stent (AES), using a reservoir-based technology for drug delivery, compared with a biodegradable-polymer everolimus-eluting stent (EES).

Methods: This was a randomised, investigator-initiated, assessor-blind, non-inferiority trial conducted at 14 hospitals in Italy (ClinicalTrials.

Correction: Tognetti et al. Pattern Analysis of Benign and Malignant Atypical Melanocytic Skin Lesions of Palms and Soles: Variations of Dermoscopic Features According to Anatomic Site and Personal Experience. 2024, , 659.

"Harald Kittler" was not included as an author in the original publication [...

Mitochondrial Dysfunction in Atrial Fibrillation: The Need for a Strong Pharmacological Approach.

Despite great progress in treating atrial fibrillation (AF), especially with the development of increasingly effective invasive techniques for AF ablation, many unanswered questions remain regarding the pathogenic mechanism of the arrhythmia and its prevention methods. The development of AF is based on anatomical and functional alterations in the cardiomyocyte resulting from altered ionic fluxes and cardiomyocyte electrophysiology. Electric instability and electrical remodeling underlying the arrhythmia may result from oxidative stress, also caused by possible mitochondrial dysfunction.

Decoding Schizophrenia: How AI-Enhanced fMRI Unlocks New Pathways for Precision Psychiatry.

Schizophrenia, a highly complex psychiatric disorder, presents significant challenges in diagnosis and treatment due to its multifaceted neurobiological underpinnings. Recent advancements in functional magnetic resonance imaging (fMRI) and artificial intelligence (AI) have revolutionized the understanding and management of this condition. This manuscript explores how the integration of these technologies has unveiled key insights into schizophrenia's structural and functional neural anomalies.

Impact of Vitamin D Levels on Progression-Free Survival and Response to Neoadjuvant Chemotherapy in Breast Cancer Patients: A Systematic Review and Meta-Analysis.

Breast cancer remains the leading cause of cancer-related deaths among women despite advances in early detection. Neoadjuvant chemotherapy (NACT) is now standard for early-stage BC, with vitamin D (VD) emerging as a potential prognostic biomarker considering its positive pleiotropic effects. This review and meta-analysis assess the impact of baseline VD levels on outcomes in BC patients undergoing NACT.

Real-World Data of Patients with V600E-Mutated Metastatic Colorectal Cancer Treated with Trifluridine/Tipiracil.

Background: For patients with refractory metastatic colorectal cancer (mCRC), trifluridine/tipiracil (FTD-TPI) has been associated with a significant improvement in overall survival (OS). However, data are lacking regarding the activity of FTD-TPI in patients with -mutated mCRC.

Methods: This retrospective, multicenter, international cohort included patients with -mutated mCRC treated with FTD-TPI in a real-life setting in Spain and Italy.

A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.

Background: The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%-10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL).

Method: In this study, we had a patient with a history of 10 pregnancy or neonatal losses, including spontaneous abortions, neonatal deaths, and molar pregnancy.

Effectiveness and tolerability of rimegepant in the acute treatment of migraine: a real-world, prospective, multicentric study (GAINER study).

Background: Rimegepant, a novel oral calcitonin gene-related peptide receptor antagonist, has been recently approved for the acute migraine treatment. While its efficacy was confirmed in randomized clinical trials, no data is available regarding real-life effectiveness and tolerability. GAINER, a prospective, multicentric study, aimed to evaluate rimegepant effectiveness and tolerability in the real-world setting.

Amitriptyline for the treatment of vulvodynia in patients with vulvar lichen sclerosus: a case series of 20 patients.

Vulvar Lichen Sclerosus (VLS) is a chronic autoimmune disease that often leads to vulvodynia, a debilitating chronic pain condition in the vulvar region. Treating vulvodynia in the context of VLS presents a significant therapeutic challenge due to the lack of standardized protocols. This article presents a case series of 20 women treated with amitriptyline for vulvodynia secondary to VLS, accompanied by an extended review of the literature.