Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.

Revealing microRNA regulation in single cells.

MicroRNAs (miRNAs) are key regulators of gene expression and control cellular functions in physiological and pathophysiological states. miRNAs play important roles in disease, stress, and development, and are now being investigated for therapeutic approaches. Alternative processing of miRNAs during biogenesis results in the generation of miRNA isoforms (isomiRs) which further diversify miRNA gene regulation.

Genome-wide association study on chronic postsurgical pain in the UK Biobank.

Background: Chronic postsurgical pain (CPSP) persists beyond the expected healing period after surgery, imposing a substantial burden on overall patient well-being. Unfortunately, CPSP often remains underdiagnosed and undertreated. To better understand the mechanism of CPSP development, we aimed to identify genetic variants associated with CPSP.

Protocol for a systematic review and individual participant data meta-analysis for risk factors for lung cancer in individuals with lung nodules identified by low-dose CT screening.

Background: Worldwide, lung cancer (LC) is the second most frequent cancer and the leading cause of cancer related mortality. Low-dose CT (LDCT) screening reduced LC mortality by 20-24% in randomised trials of high-risk populations. A significant proportion of those screened have nodules detected that are found to be benign.

Physical compatibility of insulin aspart, lidocaine, alprostadil and vancomycin with individualised two-in-one parenteral nutrition used in the neonatal intensive care unit.

Objectives: Critically ill newborn infants often require simultaneous administration of multiple intravenous (IV) solutions through the same catheter lumen, making compatibility of these solutions crucial in neonatal intensive care units (NICUs). This study aimed to investigate the physical compatibility of insulin aspart, lidocaine, alprostadil and vancomycin with individualised two-in-one parenteral nutrition (PN).

Methods: The study was conducted at the hospital pharmacy's drug compounding facility of the University Medical Centre Utrecht.

The effect of sleep disturbances on the incidence of dementia for varying lag times.

Background: Few studies have addressed the association of sleep disturbances with incident dementia with long lag times. We add to this literature by investigating how lag times varying from 2.2 to 23.

Distinct clinical outcomes based on multiple serum cytokine and chemokine profiles rather than autoantibody profiles and ultrasound findings in rheumatoid arthritis: a prospective ultrasound cohort study.

Objectives: To evaluate the potential of clinical factors, ultrasound findings, serum autoantibodies, and serum cytokine and chemokine profiles as predictors of clinical outcomes in rheumatoid arthritis (RA).

Patients And Methods: We included 200 patients with RA treated with biological and targeted synthetic disease-modifying antirheumatic drugs in a prospective multicentre ultrasound cohort study. Their serum levels of multiple cytokines and chemokines, rheumatoid factors, and serum autoantibodies (anti-cyclic citrullinated peptide-2 (anti-CCP2) and anti-carbamylated protein antibodies) were measured at baseline, 3 months and 12 months.

Acute on chronic stress fracture after a medial malleolar osteotomy following osteochondral lesion of the talus treatment.

A patient in his 40s presented at the outpatient clinic with sudden pain and swelling over his medial malleolus, 16 weeks after he had undergone osteoperiosteal autografting with a medial malleolar osteotomy for his tertiary osteochondral lesion of the talus. Postoperatively, the patient was treated using the regular evidence-based rehabilitation protocol of 5 weeks of non-weight-bearing and 5 weeks of partial weight-bearing. However, after the confirmed radiological union the patient experienced an acute on chronic stress fracture through the osteotomy line.

Accurate urine sodium measurements at home using Point of Care Testing in patients with Short Bowel Syndrome.

Background And Aims: Measurement of the urine sodium concentration (USC) is a simple procedure that in many patients adequately indicates their hydration status. This is of particular importance in patients suffering from short bowel syndrome (SBS), who may very rapidly dehydrate and are at risk for permanently compromising their kidney function. A point of care test (POCT) that allows reliable measurement of USC would enable these patients to effectively evaluate their sodium- and water balance in the at home setting, thereby avoiding hospital visits and delayed test results.

Classification of Fibro-osseous Tumors in the Craniofacial Bones using DNA Methylation and Copy Number Alterations.

Fibro-osseous tumors of the craniofacial bones are a heterogeneous group of lesions comprising cemento-osseous dysplasia (COD), cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF), psammomatoid ossifying fibroma (PsOF), fibrous dysplasia (FD), and low-grade osteosarcoma (LGOS) with overlapping clinicopathological features. However, their clinical behavior and treatment differ significantly, underlining the need for accurate diagnosis. Molecular diagnostic markers exist for subsets of these tumors, including GNAS mutations in FD, SATB2 fusions in PsOF, mutations involving the RAS-MAPK signaling pathway in COD, and MDM2 amplification in LGOS.

Multimodal strategies for the implementation of infection prevention and control (IPC) interventions - update of a systematic review for the WHO guidelines on core components of IPC programmes at the facility level.

Background: Healthcare-associated infections (HAIs) remain a significant challenge worldwide, and the use of multimodal strategies is recommended by the World Health Organization (WHO) to enhance infection prevention.

Objectives: To update the systematic review on facility-level infection prevention and control (IPC) interventions on the WHO Core Component of using multimodal strategies.

Methods: Data Sources: Medline (via PubMed), EMBASE, CINAHL, and the Cochrane library.

A Joint three-plane Physics-constrained Deep learning based Polynomial Fitting Approach for MR Electrical Properties Tomography.

Magnetic resonance electrical properties tomography can extract the electrical properties of in-vivo tissue. To estimate tissue electrical properties, various reconstruction algorithms have been proposed. However, physics-based reconstructions are prone to various artifacts such as noise amplification and boundary artifact.

Specific symptomatology profile associated with treatment resistant depression: A multicentric study from the Group for the Study of Resistant Depression with a focus on sex.

Background: Clinical predictors of treatment-resistant depression could improve treatment strategies. Depressive symptom profiles at baseline are potential outcome predictors, but little evidence is available, and sex-specific profiles have been scarcely investigated.

Methods: Baseline symptom scores of 1294 patients with major depressive disorder were assessed by the Montgomery-Åsberg depression rating scale (MADRS) as part of a multicenter study by the "Group for the Studies of Resistant Depression".

Stereotactic body radiotherapy for non-spine bone metastases: A meta-analysis and international stereotactic radiosurgery society (ISRS) clinical practice guidelines.

Background: While SBRT to NSBM has become common, particularly in the oligometastatic population, the approach to treating non-spine bone metastases (NSBM) with stereotactic body radiotherapy (SBRT) varies widely across institutions and clinical trial protocols. We present a comprehensive systematic review of the literatures to inform practice recommendations on behalf of the International Stereotactic Radiosurgery Society (ISRS).

Methods: A systematic literature review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

Breast cancer outcomes after skin- and nipple-sparing mastectomy in BRCA pathogenic mutation carriers versus non-BRCA carriers.

Unlabelled: Our previous study on BRCA breast cancer carriers disclosed a high local recurrence (LR) rate in patients who underwent skin sparing (SSM) or nipple sparing mastectomy (NSM) without postoperative radiation therapy (RT), compared to breast conservation surgery or mastectomy with RT. The current study compares the LR rates in BRCA versus non BRCA carriers after SSM/NSM in relation the receipt of RT.

Methods: The study was approved by the institutional ethics committee.

Unique considerations in the assessment and management of traumatic brain injury in older adults.

The age-specific incidence of traumatic brain injury in older adults is rising in high-income countries, mainly due to an increase in the incidence of falls. The severity of traumatic brain injury in older adults can be underestimated because of a delay in the development of mass effect and symptoms of intracranial haemorrhage. Management and rehabilitation in older adults must consider comorbidities and frailty, the treatment of pre-existing disorders, the reduced potential for recovery, the likelihood of cognitive decline, and the avoidance of future falls.

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.

Identifying ICU survivors and relatives with post-traumatic stress disorder using text mining: An explorative study.

Purpose: A quarter of ICU-patients develop post-traumatic stress disorder (PTSD) after discharge. These patients could benefit from early detection of PTSD. Therefore, we explored the accuracy of text mining with self-narratives to identify intensive care unit (ICU) patients and surviving relatives at risk of PTSD in a pilot study.

Isolated subsegmental pulmonary embolism identification based on international classification of diseases (ICD)-10 codes and imaging reports.

Background: Isolated subsegmental pulmonary embolism (issPE) is a commonly encountered diagnosis. Although the International Classification of Diseases (ICD)-10 codes are used for research, their validity for identifying issPE is unknown. Moreover, issPE diagnosis is challenging, and the findings from radiology reports may conflict with those from expert radiologists.

Lung function-associated exposome profile in the era of climate change: Pooled analysis of 8 population-based European cohorts within the EXPANSE project.

Background: The independent and interrelated long-term effects of the exposome such as air pollution, greenness, and ambient temperature on lung function are not well understood, yet relevant in the light of climate change.

Methods: Pre-bronchodilation FEV1 from five mature birth cohorts (N = 4724) and three adult cohorts (N = 6052) from five European countries were used to assess cross-sectional associations with air pollution, greenness, and ambient temperature, assigned to their residential address. All two-way interactions and square terms were a priori included in building the final elastic net regression model.