Response to azathioprine treatment in autoimmune hepatitis is dependent on glutathione transferase genotypes.

Background: Azathioprine (AZA) is part of the standard treatment for autoimmune hepatitis (AIH). The first step in the complex bioconversion of AZA to active metabolites is mediated by glutathione transferases (GSTs).

Aims: Elucidate the association between GSTM1 and GSTT1 copy number variation (CNV), genetic variation in GSTA2, GSTP1, and inosine-triphosphate-pyrophosphatase, and the response to AZA in AIH.

Amino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation.

Background: The metabolism of plasma amino acid (AA) in children with autism spectrum disorder (ASD) has been extensively investigated, yielding inconclusive results. This study aims to characterize the metabolic alterations in AA profiles among early-diagnosed children with ASD and compare the findings with those from non-ASD children.

Methods: We analyzed plasma AA profiles, measured by ion exchange chromatography, from 1242 ASD children (median age = 4 years; 81% male).

Vascular Access Device Infections: Current Management Practices and the Role of Multidisciplinary Teams at a Large Hospital in Northern Italy.

: Vascular access device (VAD)-associated infections, including catheter-related (CRBSI) and catheter-associated bloodstream infections (CABSI), present significant challenges in patient care. While multidisciplinary VAD teams (VATs) are equipped with protocols for managing these infections, adherence to these guidelines in real-life practice is inconsistent. This study aims to evaluate the alignment between actual VAD infection management practices and VAT-recommended protocols.

Predicting Early Death in Head and Neck Cancer-A Pilot Study.

The aim of this study was to evaluate biomarkers and biological characteristics of tumor biopsies from patients with head and neck cancer (HNC) to assess the risk of early death. Furthermore, we analyzed whether any combination of markers could be used for the prognostication of death within six months after cancer diagnosis. Patients diagnosed with HNC, receiving curative treatment decision at a multidisciplinary tumor board meeting, and who died within six months of diagnosis were included in this study.

Evaluation of MRX PT DOAC as a new screening method for detecting interferences in thrombophilia analyses.

Background: Direct oral anticoagulants (DOACs) can interfere with coagulation analyses, causing erroneous results such as false-positive lupus anticoagulant and false-normal antithrombin, threatening patient safety when overlooked. A test using a prothrombin time quotient method to detect DOAC presence in plasma samples is now commercially available, the MRX PT DOAC, with the result expressed as Clot Time Ratio (CTR).

Objectives: Evaluate the ability of MRX PT DOAC to identify interfering apixaban or rivaroxaban concentrations, identify non-interfering or interfering patient samples, and detect whether a patient is on DOAC treatment.

Clinical and CT Features, Clinical Management, and Decision on Sport Eligibility of Professional Athletes with Congenital Coronary Anomalies: A Case Series Study.

Background: Congenital coronary artery anomalies (CAAs) are a significant cause of sudden cardiac death and a key factor in determining athletes' eligibility for competitive sports. Their prevalence varies with diagnostic modalities and may present as asymptomatic or with life-threatening ischemic or arrhythmic events. This case series highlights the diverse manifestations of CAAs and the clinical approaches used to determine sports eligibility.

Systematic identification of Y-chromosome gene functions in mouse spermatogenesis.

The mammalian Y chromosome is essential for male fertility, but which Y genes regulate spermatogenesis is unresolved. We addressed this by generating 13 Y-deletant mouse models. In , , and deletants, spermatogenesis was impaired.

A scalable CRISPR-Cas9 gene editing system facilitates CRISPR screens in the malaria parasite Plasmodium berghei.

Many Plasmodium genes remain uncharacterized due to low genetic tractability. Previous large-scale knockout screens have only been able to target about half of the genome in the more genetically tractable rodent malaria parasite Plasmodium berghei. To overcome this limitation, we have developed a scalable CRISPR system called P.

Endocannabinoid contributions to the perception of socially relevant, affective touch in humans.

Social relationships are central to well-being. A subgroup of afferent nerve fibers, C-tactile (CT) afferents, are primed to respond to affective, socially relevant touch and may mitigate the effects of stress. The endocannabinoid ligand anandamide (AEA) modulates both social reward and stress.

Emotion regulation-based internet-delivered cognitive behavioural therapy for premenstrual dysphoric disorder: study protocol for a randomised controlled trial in Sweden.

Introduction: Premenstrual dysphoric disorder (PMDD) is a cyclic mood disorder affecting around 2%-5% of women of reproductive age. Pharmacological interventions exist, but many patients with PMDD experience residual symptoms, discontinue medications or refrain from them due to side effects. Thus, non-pharmacological treatments are needed as an alternative or additive treatment strategy.

Capillary refill time paradoxically decreases in a blood loss shock model.

Background: This study aimed to investigate whether changes in capillary refill (CR) time precede macrovascular signs of deterioration in a human model of blood loss shock. The study was conducted at the Department of Emergency Medicine in Linköping, Sweden, and involved 42 healthy volunteers aged 18-45. Participants were randomized into two provocations of applied lower body negative pressure (LBNP): a stepwise escalation protocol and a direct application protocol, to simulate gradual and acute blood loss.

Assessing the Fear of Covid-19 in Psychiatric Patients: Results from an Italian Multicentric Study.

Objective: Even though the COVID-19 emergency has concluded, its consequences are still relevant. Recent evidence suggests that a significant proportion of individuals experience persistent symptoms long after the initial infection has resolved, classified as "Long COVID" condition. Fear of COVID-19 increases anxiety and stress levels in healthy individuals and exacerbates the symptoms of those with pre-existing psychiatric disorders; therefore understanding the impact of the pandemic on psychiatric disorders remains of utmost importance.

Prehospital lactate analysis in suspected sepsis improves detection of patients with increased mortality risk: an observational study.

Background: Rapid, adequate treatment is crucial to reduce mortality in sepsis. Risk stratification scores used at emergency departments (ED) are limited in detecting all septic patients with increased mortality risk. We assessed whether the addition of prehospital lactate analysis to clinical risk stratification tools improves detection of patients with increased risk for rapid deterioration and death in sepsis.

Predictors of COVID-19 Readmission Among Patients Previously Hospitalized for SARS-CoV-2.

Introduction: Predictors of coronavirus disease 2019 (COVID-19)-related rehospitalization remain underexplored. This study aims to identify the main risk factors associated with rehospitalizations due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reinfections among residents of Lombardy, northern Italy.

Methods: A retrospective observational study was conducted using two linked administrative databases covering demographic data, comorbidities, hospital records, and COVID-19 data of Lombardy residents.

Sex and age-related day-to-day variability in the skin microcirculation during post-occlusive reactive hyperemia.

Introduction: Little is known about the day-to-day variability of different skin microcirculation parameters, and how this variability is influenced by age and sex. The aim was to examine the day-to-day variability of microcirculatory parameters in relation to age and sex.

Methods: The cutaneous microcirculation was measured using a fiber optic probe integrating laser Doppler flowmetry (LDF) and diffuse reflectance spectroscopy (DRS) to measure oxygen saturation, red blood cell (RBC) tissue fraction, speed-resolved and conventional perfusion.

Circulating secretory component-containing anti-citrullinated protein antibodies prior to symptom onset in rheumatoid arthritis.

Objectives: To investigate the occurrence and dynamics of secretory component-containing antibodies towards citrullinated proteins (SC ACPA) in plasma from pre-symptomatic individuals subsequently developing rheumatoid arthritis (RA).

Methods: We studied 319 individuals who had donated plasma prior to RA onset (median predating time 4.7 years), whereof 181 also donated samples after diagnosis.

Differentiating aspects of oral and long-acting injectable antipsychotic drugs for tailoring the therapy of schizophrenia in clinical practice: a narrative review.

Schizophrenia is a serious psychiatric condition requiring continuous treatment with antipsychotic medications available in different formulations, including oral antipsychotics (OAPs) and long-acting injectables (LAIs). This narrative review aims to comprehensively outline the advantages and disadvantages of OAPs and LAIs to support clinicians in choosing different formulations based on the presentation of clinical symptoms. An electronic search of the PubMed database was performed in June 2024, and additional articles were retrieved from the references or personal knowledge of the authors.

CD36 enrichment in HER2-positive mesenchymal stem cells drives therapy refractoriness in breast cancer.

Background: Growing evidence shows that the reprogramming of fatty acid (FA) metabolism plays a key role in HER2-positive (HER2 +) breast cancer (BC) aggressiveness, therapy resistance and cancer stemness. In particular, HER2 + BC has been defined as a "lipogenic disease" due to the functional and bi-directional crosstalk occurring between HER2-mediated oncogenic signaling and FA biosynthesis via FA synthase activity. In this context, the functional role exerted by the reprogramming of CD36-mediated FA uptake in HER2 + BC poor prognosis and therapy resistance remains unclear.

International expert consensus on micronutrient supplement use during the early life course.

Background: Growing evidence demonstrates that maternal nutrition is crucial for the health of the mother-to-be, and early life course of the offspring. However, for most micronutrients, guidelines are inconsistent. This Delphi study aimed to investigate the level of expert consensus on maternal nutrition and micronutrient needs during preconception, pregnancy and lactation.

The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.

Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.

Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.

Supervised learning approaches for predicting Ebola-Human Protein-Protein interactions.

The goal of this research work is to predict protein-protein interactions (PPIs) between the Ebola virus and the host who is at risk of infection. Since there are very limited databases available on the Ebola virus; we have prepared a comprehensive database of all the PPIs between the Ebola virus and human proteins (EbolaInt). Our work focuses on the finding of some new protein-protein interactions between humans and the Ebola virus using some state- of-the-arts machine learning techniques.

Hallmarks of Left Ventricular Apical Cardiac Mass in a Young Patient.

We present the case of a young patient with an apical cardiac mass exhibiting an anterior pseudonecrosis pattern on the electrocardiogram. Cardiac ultrasound revealed a hyperechoic mass infiltrating the apical wall. However, cardiac magnetic resonance ruled out signs of infiltration and demonstrated significant contrast uptake.

An emotion regulation skills training for adolescents and parents: perceptions and acceptability of methodological aspects.

Introduction: Difficulties with emotion regulation are associated with the development and maintenance of psychiatric symptoms. Focusing on emotion regulation can be beneficial when treating symptoms and behavioral problems. Here we describe a seven-session transdiagnostic approach to regulating emotions, delivered jointly to adolescents and parents in a child and adolescent psychiatric outpatient setting, and we explore the perceptions and acceptability of the methodological aspects of the intervention.