The dilemma of X-linked agammaglobulinemia carriers.

Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.

Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.

Cartilage thickness can be accurately measured intraoperatively in total knee arthroplasty: A step further in calipered kinematic alignment.

Introduction: Kinematic alignment (KA) in total knee arthroplasty (TKA) is by definition a pure femoral resurfacing procedure aiming to restore the individual prearthritic anatomy. However, when a 2 mm compensation is systematically used on the worn side, the variability in cartilage thickness in the unworn compartment might alter the accuracy of the technique. This study aimed to validate two intraoperative femoral cartilage thickness measurement techniques by comparing them to the photographic method, which measures cartilage thickness through pixel analysis of bone-cut images.

New onset of protein-losing enteropathy in a patient with Fontan circulation after COVID-19 vaccination: dread the cure or the disease?

We present the case of a 31-year-old female with Fontan circulation who developed signs of protein-losing enteropathy 10 days after second COVID-19 vaccination. After standard investigations for identification of potential triggers for protein-losing enteropathy, we concluded that coronavirus disease 2019 (COVID-19) booster vaccination could have been the most probable underlying trigger. Prompt investigation of new symptoms post-vaccination in high-risk patients is necessary.

Real-world treatment patterns and health outcomes for patients with myelofibrosis treated with fedratinib.

Aim: Assess real-world fedratinib (FEDR) treatment patterns and clinical outcomes in patients with primary or secondary myelofibrosis following discontinuation of ruxolitinib (RUX).

Patients & Methods: This study was a retrospective, noninterventional medical record review of patients in Canada, Germany, and the United Kingdom (UK). A total of 70 physicians (primarily hematologist-oncologists [78.

Validation of the Hospital Survey on Patient Safety Culture 2.0 in Italian Hospitals: A Cross-Sectional Study of Healthcare Personnel Perceptions.

Aim(s): To adapt and validate the HSOPS 2 instrument for the Italian context and to describe the current patient safety culture amongst healthcare personnel working in Italian hospitals.

Design: Cross-sectional study.

Methods: We adapted and validated the HSOPS 2 instrument following the COSMIN guidelines: we performed a forward-backward translation, calculated the content validity index, evaluated face validity, acceptability (percentage of participants responding to all items on the questionnaire and to every specific item), construct validity (confirmatory factor analysis), and internal consistency (Cronbach's alpha for each dimension).

POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.

Background: To date, 11 DNA polymerase epsilon (POLE) pathogenic variants have been declared "hotspot" mutations. Patients with endometrial cancer (EC) characterized by POLE hotspot mutations (POLEmut) have exceptional survival outcomes. Whereas international guidelines encourage deescalation of adjuvant treatment in early-stage POLEmut EC, data regarding safety in POLEmut patients with unfavorable characteristics are still under investigation.

Precision in Liver Diagnosis: Varied Accuracy Across Subgroups and the Need for Variable Thresholds in Diagnosis of MASLD.

Background And Aims: The performance of non-invasive liver tests (NITs) is known to vary across settings and subgroups. We systematically evaluated whether the performance of three NITs in detecting advanced fibrosis in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) varies with age, sex, body mass index (BMI), type 2 diabetes mellitus (T2DM) status or liver enzymes.

Methods: Data from 586 adult LITMUS Metacohort participants with histologically characterised MASLD were included.

Otherwise, inoperable. The role of ECMO in thoracic surgery - focus on the mediastinum.

The use of extracorporeal membrane oxygenation (ECMO) in surgery is expanding as the medical community started adopting it, with good results, for procedures with high risk of respiratory and hemodynamic instability. This technique provided the possibility to reduce the number of patients previously considered inoperable because of these limitations. Thymic epithelial tumors (TETs) are rare neoplastic mediastinal lesions, with a reported incidence of 0.

Immunonutrition to improve the quality of life of upper gastrointestinal cancer patients undergoing neoadjuvant treatment prior to surgery (NEOIMMUNE): double-blind randomized controlled multicenter clinical trial.

Background: Malnutrition is common with esophagogastric cancers and is associated with negative outcomes. We aimed to evaluate if immunonutrition during neoadjuvant treatment improves patient's health-related quality of life (HRQOL) and reduces postoperative morbidity and toxicities during neoadjuvant treatment.

Methods: A multicenter double-blind randomized controlled trial (RCT) was undertaken.

Relationship between plasma urea and copeptin in response to arginine stimulation in healthy adults, patients with vasopressin deficiency and primary polydipsia.

Background: Arginine infusion stimulates copeptin secretion, a surrogate marker of arginine vasopressin (AVP), thereby serving as a diagnostic test in the differential diagnosis of suspected AVP deficiency (AVP-D). Yet, the precise mechanism underlying the stimulatory effect of arginine on the vasopressinergic system remains elusive. Arginine plays a significant role in the urea cycle and increases the production of urea.

Hereditary colorectal cancer syndromes and inflammatory bowel disease: results from a registry-based study.

Purpose: In this study, we investigated the progression of high-grade dysplasia (HGD)/CRC in patients with hereditary colorectal cancer syndromes (HCSS) and concomitant inflammatory bowel diseases (IBDs).

Methods: We described the natural history of a series of patients with confirmed diagnosis of hereditary colorectal cancer syndromes (HCCSs) and concomitant IBDs who were referred to the Hereditary Digestive Tumors Registry at the Fondazione IRCCS Istituto Nazionale dei Tumori of Milan.

Results: Between January 1989 and April 2024, among 450 patients with APC-associated polyposis and 1050 patients with Lynch syndrome (LS), we identified six patients with IBDs (five with UC, one with ileal penetrating CD) and concomitant HCCSs (five with LS, one with APC-associated polyposis).

The posterior cruciate ligament angle in the setting of anterior cruciate ligament deficient knees: the effect of gender, age, time from injury and tibial slope.

Purpose: This study aimed to assess the posterior cruciate ligament (PCL) angle in anterior cruciate ligament (ACL) deficient knees and correlate it with anatomical and demographic factors such as tibial slope, anterior tibial translation, age, gender, and time of injury.

Material And Methods: Patients were eligible for inclusion if they were clinically diagnosed with an ACL tear confirmed by MRI. For each patient, the following parameters were evaluated: PCL angle (PCLA), medial tibial slope (MTS), lateral tibial slope (LTS), medial anterior tibial translation (MATT), and lateral anterior tibial translation (LATT).

Clinically Meaningful Upstaging and Upgrading in Favorable Intermediate-Risk Radical Prostatectomy Patients.

Introduction: In NCCN favorable intermediate-risk (FIR) prostate cancer (PCa) patients treated with radical prostatectomy (RP), we tested the effect of upstaging and upgrading on cancer-specific mortality (CSM).

Methods: Within the SEER database (2010-2021), upstaging (≥pT3a or pN1) and upgrading (ISUP ≥3) rates in FIR RP patients were tabulated. Kaplan-Meier (KM) plots and multivariable Cox-regression models (CRMs) were fitted.

Psychometric Properties of the Self Care Oral Anticancer Agents Index (SCOAAI).

Objective: To test the Self-Care Oral Anticancer Agents Index (SCOAAI)'s psychometric properties (structural validity, convergent validity, predictive validity, and internal consistency) in a sample of patients with solid tumour on Oral anticancer agents (OAA).

Methods: A methodological research in five in- or out-patient Italian facilities. Structural validity was tested by confirmatory factor analysis, and internal consistency was assessed through Cronbach's alpha and composite reliability.

Effects of Methylglyoxal on Intestine and Microbiome Composition in Aged Mice.

Background: Methylglyoxal (MGO), a highly reactive precursor of advanced glycation end products (AGEs), is endogenously produced and prevalent in various ultra-processed foods. MGO has emerged as a significant precursor implicated in the pathogenesis of type 2 diabetes and neurodegenerative diseases. To date, the effects of dietary MGO on the intestine have been limited explored.

Apixaban versus aspirin for stroke prevention in people with subclinical atrial fibrillation and a history of stroke or transient ischaemic attack: subgroup analysis of the ARTESiA randomised controlled trial.

Background: People with subclinical atrial fibrillation are at increased risk of stroke, albeit to a lesser extent than those with clinical atrial fibrillation, leading to an ongoing debate regarding the benefit of anticoagulation in these individuals. In the ARTESiA trial, the direct-acting oral anticoagulant apixaban reduced stroke or systemic embolism compared with aspirin in people with subclinical atrial fibrillation, but the risk of major bleeding was increased with apixaban. In a prespecified subgroup analysis of ARTESiA, we tested the hypothesis that people with subclinical atrial fibrillation and a history of stroke or transient ischaemic attack, who are known to have an increased risk of recurrent stroke, would show a greater benefit from oral anticoagulation for secondary stroke prevention compared with those without a history of stroke or transient ischaemic attack.

Insights into proprioceptive acuity assessed with a dynamic joint position reproduction task.

This study investigated proprioceptive acuity using the conventional joint position reproduction (JPR) task and a modified version, the Dynamic JPR task (D-JPR), during Concentric and Eccentric muscle contractions. Seventeen participants were recruited and received a tactile stimulus indicating the position cue at Initial (INI), Intermediate (INT), and Final (FIN) phases of movements, during either the concentric or eccentric phases. After the movement, they replicated the position where they received the stimulus.

Motor and visuospatial processing profile in a cross-conditions study: A comparison between developmental coordination disorder and nonverbal learning disability.

Background: Neurodevelopmental conditions often exhibit overlapping symptoms, posing challenges for differential diagnosis. Developmental Coordination Disorder (DCD) manifests as fundamental motor impairments, often along with co-occurring visuospatial difficulties. Nonverbal Learning Disorder (NLD) features visuospatial core challenges, with a less consistent characterization of its motor profile.

Exploring the Pathophysiology, Diagnosis, and Treatment Options of Multiple Sclerosis.

The complicated neurological syndrome known as multiple sclerosis (MS) is typified by demyelination, inflammation, and neurodegeneration in the central nervous system (CNS). Managing this crippling illness requires an understanding of the complex interactions between neurophysiological systems, diagnostic techniques, and therapeutic methods. A complex series of processes, including immunological dysregulation, inflammation, and neurodegeneration, are involved in the pathogenesis of MS.

Real-World Impact of Olaparib Exposure in Advanced Pancreatic Cancer Patients Harboring Germline BRCA1-2 Pathogenic Variants.

Introduction: Pancreatic cancer arising in the context of BRCA predisposition may benefit from poly(ADP-ribose) polymerase inhibitors. We analyzed real-world data on the impact of olaparib on survival in metastatic pancreatic cancer patients harboring germline BRCA mutations in Italy, where olaparib is not reimbursed for this indication.

Methods: Clinico/pathological data of pancreatic cancer patients with documented BRCA1-2 germline pathogenic variants who had received first-line chemotherapy for metastatic disease were collected from 23 Italian oncology departments and the impact of olaparib exposure on overall survival (OS) was analyzed.

Pediatric, adult, and late onset multiple sclerosis: Cognitive phenotypes and gray matter atrophy.

Objectives: We aim to investigate cognitive phenotype distribution and MRI correlates across pediatric-, elderly-, and adult-onset MS patients as a function of disease duration.

Methods: In this cross-sectional study, we enrolled 1262 MS patients and 238 healthy controls, with neurological and cognitive assessments. A subset of 222 MS patients and 92 controls underwent 3T-MRI scan for brain atrophy and lesion analysis.

Herald Patch as the Only Evidence of Pityriasis Rosea: Clinical, Laboratory and Pathogenetic Features.

Pityriasis rosea (PR) is a self-limited exanthem associated with the endogenous systemic reactivation of human herpesvirus (HHV)-6 and HHV-7. The disease typically begins with a single erythematous patch on the trunk (herald patch), followed by a secondary eruption of smaller papulosquamous lesions. Rarely, the herald patch may be the only cutaneous manifestation of PR.