Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes.

Prions are assemblies of misfolded prion protein that cause several fatal and transmissible neurodegenerative diseases, with the most common phenotype in humans being sporadic Creutzfeldt-Jakob disease (sCJD). Aside from variation of the prion protein itself, molecular risk factors are not well understood. Prion and prion-like mechanisms are thought to underpin common neurodegenerative disorders meaning that the elucidation of mechanisms could have broad relevance.

Bipartite interference and air pollution transport: estimating health effects of power plant interventions.

Evaluating air quality interventions is confronted with the challenge of interference since interventions at a particular pollution source likely impact air quality and health at distant locations, and air quality and health at any given location are likely impacted by interventions at many sources. The structure of interference in this context is dictated by complex atmospheric processes governing how pollution emitted from a particular source is transformed and transported across space and can be cast with a bipartite structure reflecting the two distinct types of units: (i) interventional units on which treatments are applied or withheld to change pollution emissions; and (ii) outcome units on which outcomes of primary interest are measured. We propose new estimands for bipartite causal inference with interference that construe two components of treatment: a "key-associated" (or "individual") treatment and an "upwind" (or "neighborhood") treatment.

Diagnostic performance of plasma biomarkers for Alzheimer's disease using a fully automated platform: A real-world clinical study.

This study evaluated the diagnostic performance of plasma biomarkers for Alzheimer's disease (AD) using an automated platform. In a cohort of 74 consecutive patients, plasma p-Tau181 levels were significantly higher in AD compared to non-AD groups and showed correlation with cerebrospinal fluid biomarkers. Plasma p-Tau181 demonstrated high diagnostic accuracy for AD, with an area under the curve of 0.

Evaluating the antioxidant, anti-inflammatory, and neuroprotective potential of fruiting body and mycelium extracts from edible yellow morel (Morchella esculenta L. Pers.).

Scope: This study aimed to assess the antioxidant, anti-inflammatory, and acetylcholinesterase activities of fruiting bodies (FB) and mycelium (M) extracts of Morchella esculenta L. collected from various regions of Pakistan. The samples included Skardu fruiting body (SKFB) and mycelia Skardu (SKM), Malam Jaba fruiting body (MJFB) and Malam Jaba mycelia (MJM), Krair Mansehra fruiting body (KMFB) and Krair Mansehra mycelia (KMM), and Thandiani fruiting body (TFB) and Thandiani mycelia (TM).

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).

Learning Curve for Robotic Inguinal Hernia Repair With da Vinci Single-Port Robotic System.

Background: Transabdominal pre-peritoneal inguinal hernia repair using the da Vinci Single-Port robot (SP-TAPP) is currently performed in few centers. We aimed to define the learning curve for SP-TAPP by analyzing operative times.

Methods: The operative times of 122 SP-TAPP performed between 2019 and 2024 were retrospectively analyzed.

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.

Nurses' Perception and Insight Into Uremic Pruritus in Patients With Chronic Kidney Disease on Dialysis: A Survey-Based Study.

Background: Uremic pruritus is a quite common condition among patients with chronic kidney disease. Symptom severity and patterns are variable.

Aim: To assess how nurses in the field of nephrology perceive the issue of uremic pruritus in dialysis patients and the relevance of this condition.

Epilepsy Stands Nearby: A Pilot CT Perfusion Study on Post-Stroke Non-Convulsive Status Epilepticus.

Background: To investigate the relevance of hyperperfusion on computerised perfusion imaging (CTP) in the emergency setting in people with non-convulsive status epilepticus (NCSE) and previous stroke, to derive relevant aspects on the epileptogenic focus and the network recruited for NCSE propagation.

Methods: We enrolled consecutive adult patients with acute-onset NCSE and a previous stroke at a single institution undergoing CTP and EEG during symptoms. All patients underwent standard imaging including CT, CTP, CT angiograms and standard EEG within 30 min from hospital arrival.

Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?

TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.

Effect of Nonsurgical Mechanical Debridement With or Without Chlorhexidine Formulations in the Treatment of Peri-Implant Mucositis. A Randomized Placebo-Controlled Clinical Trial.

Objectives: To evaluate the treatment of peri-implant mucositis (PM) using a nonsurgical submarginal peri-implant instrumentation (NSPI) with or without chlorhexidine (CHX) solutions.

Methods: Fifty-six patients (28 per group) were randomly assigned to the test (NSPI + 0.12% mouthwash and subgingival CHX irrigation plus tongue brushing with 1% CHX gel) or the control group (NSPI + placebo mouthwash and subgingival placebo irrigation plus tongue brushing with placebo gel).

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.

Defining Excellence: The First Core Set of Quality Indicators for the European Paediatric Surgical Audit on Hirschsprung's Disease Care.

Aim: This study aimed to develop a universally applicable core set of quality indicators for Hirschsprung's disease care through a consensus-driven process, to standardise and improve care quality across Europe.

Methods: A modified Delphi method was used to achieve consensus among healthcare professionals (HPs) and patient representatives (PRs) across Europe. Participants completed three rounds of anonymous surveys, rating quality indicators for Hirschsprung's disease care.

The Effect of Plaque Detectors on the Color Stability of Two Types of Restorative Materials.

Objective: To investigate the color stability of a one-shade resin-based composite material (RC) and a glass-ionomer cement (GIC) after staining with plaque detectors (PDs) with different formulations and delivery forms.

Materials And Methods: Rectangular-shaped specimens (7 × 3 × 2 mm) were produced with RC (Venus Diamond One, Kulzer) and GIC (Fujy IX GP, GC) (n = 30). Further, the following PDs were used on the specimens: (1) tablets (T; Plaq-Search, TePe); (2) mouthwash (M; Plaque Agent, Miradent); and (3) light-curing liquid (L; Plaque test, Ivoclar).

RADAR-AD: assessment of multiple remote monitoring technologies for early detection of Alzheimer's disease.

Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder affecting millions worldwide, leading to cognitive and functional decline. Early detection and intervention are crucial for enhancing the quality of life of patients and their families. Remote Monitoring Technologies (RMTs) offer a promising solution for early detection by tracking changes in behavioral and cognitive functions, such as memory, language, and problem-solving skills.

First evidence of the effectiveness of a field application of RNAi technology in reducing infestation of the mite Varroa destructor in the western honey bee (Apis mellifera).

Background: The mite Varroa destructor is the most serious pest of the western honey bee (Apis mellifera) and a major factor in the global decline of colonies. Traditional control methods, such as chemical pesticides, although quick and temporarily effective, leave residues in hive products, harming bees and operators' health, while promoting pathogen resistance and spread. As a sustainable alternative, RNA interference (RNAi) technology has shown great potential for honey bee pest control in laboratory assays, but evidence of effectiveness in the field has been lacking.

Feasibility and accuracy of continuous intraabdominal pressure monitoring with a capsular device in human pilot trial.

Background: Intrabdominal pressure (IAP) is an important parameter. Elevated IAP can reduce visceral perfusion, lead to intraabdominal hypertension, and result in life-threatening abdominal compartment syndrome. While ingestible capsular devices have been used for various abdominal diagnoses, their application in continuous IAP monitoring remains unproven.

Future perspectives for PDE5 inhibitors bridging the gap between cardiovascular health and psychological status.

The serendipitous discovery that inhibiting type 5 phosphodiesterase (PDE5) using sildenafil, a potent PDE5 inhibitor (PDE5i) initially developed for cardioprotection, introduced the possibility of orally managing erectile dysfunction (ED) led to an increase in research data, which are currently considered groundbreaking for the new discipline of sexual medicine. Findings from a number of laboratories and clinics around the world unanimously demonstrated the following: (i) the major cause of ED is directly or indirectly related to cardiovascular disease (CVD); (ii) ED and CVDs share the same risk factors, which are related mainly to lifestyle choices; (iii) the first therapeutic approach to both ED and CVDs is to transform harmful lifestyles into virtuous lifestyles; and (iv) PDE5is in general, particularly sildenafil, are very safe, if not protective, for use in CVD patients. However, the use of PDE5is has faced several challenges.

Clinical relevance of macromolecular complexes involving integrins, potassium and sodium ion channels and the sodium/proton antiporter in human breast cancer.

Background: Mounting evidence underline the relevance of macromolecular complexes in cancer. Integrins frequently recruit ion channels and transporters within complexes which behave as signaling hubs. A complex composed by β1 integrin, hERG1 K channel, the neonatal form of the Na channel Na 1.

A Novel Valveless Pulsatile Flow Pump for Extracorporeal Blood Circulation.

Extracorporeal Membrane Oxygenation (ECMO) is a modality of extracorporeal life support which allows temporary support in cases of cardiopulmonary failure and cardiogenic shock. This study presents a valveless pump that works by the Liebau effect as a possible pumping system in ECMO circuits, replacing the current roller and centrifugal pumps. For this purpose, a mock circulatory loop emulating the haemodynamic of the right part of the heart has been constructed.