Karolinska Institutet

On the Chopping Block: Overview of DICER1 Mutations in Endocrine and Neuroendocrine Neoplasms.

Mutational inactivation of the DICER1 gene causes aberrant micro-RNA maturation, which in turn may have consequences for the posttranscriptional regulation of gene expression, thereby contributing to tumor formation in various organs. Germline DICER1 mutations cause DICER1 syndro...

Low-Voltage Ablation in Persistent Atrial Fibrillation

Importance Pulmonary vein isolation remains the foundational ablation approach for atrial fibrillation (AF), yet outcomes in persistent AF remain suboptimal. Targeting low-voltage zones identified by electroanatomical mapping offers a promising strategy for enhancing ablation suc...

Genomic characterization of ER-positive primary tumors and corresponding relapses identifies potentially targetable alterations

The majority of breast cancer patients have tumors expressing estrogen receptor α (ER) and receive endocrine therapy. However, around one-third relapse in their disease, predominantly with retained ER expression. Molecular alterations are proposed to be contributors to the resist...

Machine learning provides individualized prediction of outcomes after first complete remission without allo‐HSCT consolidation in adult acute myeloid leukemia—A HARMONY study

Abstract Allogeneic hematopoietic stem cell transplantation (allo‐HSCT) is a curative treatment option for a significant proportion of patients with acute myeloid leukemia (AML), and it is generally recommended when the relapse risk without allo‐HSCT outweighs the estimated non‐r...

Blunt versus penetrating trauma: differences in early physiology, coagulopathy, and outcomes in a Scandinavian trauma centre

Abstract Background Blunt and penetrating trauma differ in injury patterns, management, and outcomes, but data comparing early physiological and haemostatic responses within Scandinavian trauma systems remain limited. We aimed to investigate differences in clinical characteristic...

Early definitive fracture fixation (EDFF) does not alter circulatory neutrophil activation status in physiologically restored polytrauma: a 72-h porcine observation study

Abstract Dysregulation of the cellular innate immune system, particularly involving leukocytes and mainly neutrophils, underlies post-traumatic inflammatory complications. Early definitive fracture fixation (EDFF) triggers immune activation and may exacerbate inflammatory complic...

Live Attenuated Influenza Vaccine (LAIV) for Children for the Prevention of Influenza Illness in Sweden: A Cost-Effectiveness Analysis

Both inactivated influenza vaccine and live attenuated influenza vaccine (LAIV) (indicated for use in children aged 2–17 years) effectively prevent influenza transmission and related outcomes. Despite high transmission among children, vaccination practices in Sweden focus primari...

OAF Blocks SIAH1‐Mediated Degradation of SCPX, a Therapeutic Strategy for MASLD

Metabolic dysfunction-associated steatotic liver disease (MASLD) poses an increasing threat to global public health. Currently approved drugs for MASLD, such as resmetirom and semaglutide, have demonstrated clinical efficacy. However, their use is associated with notable adverse...

Drones providing live video to dispatch centers during time-critical incidents

Abstract Background Early triage of emergency calls at dispatch centres relies mainly on verbal information, which may not reflect the complexity and severity of a situation, limiting dispatchers situational awareness and early decision-making. Real-time live-video could potentia...

Variation in meningioma recurrence risk estimates across observational cohorts: the influence of calendar time, WHO classifications, geographical settings, and healthcare systems

Abstract Purpose Recurrence risk estimates underpin meningioma research, including molecular classification and clinical trial benchmarking, yet are often based on retrospective or historical data. The aim of this study was to assess the variation of recurrence risk estimates acr...

Incident psoriasis in atopic dermatitis: a large-scale cohort study of disease- and treatment-associated risks

Abstract Background Clinical and genetic evidence on the association between atopic dermatitis (AD) and subsequent psoriasis remains conflicting, and it is unclear whether this risk is modified by systemic treatments. Recent reports suggest type 2-targeted biologics may unmask ps...

DynamicBUS: restoring temporal dynamics from static ultrasound for improved breast cancer diagnosis

Abstract The clinical practice of archiving static 2D images from dynamic breast ultrasound (BUS) examinations leads to a critical loss of temporal information, vital for accurate lesion diagnosis. This data limitation constrains the performance of conventional computer-aided dia...

Preferential Retention of the LMP-1 Promoter at EBV Integration Sites in Lymphomas: Evidence from Cartilage Hair Hypoplasia and Controls

Abstract Purpose Cartilage-Hair Hypoplasia (CHH), a rare ribosomopathy characterized by immune deficiency, carries a markedly increased risk of early-onset malignancy, particularly lymphoma. However, the molecular drivers of malignant transformation in CHH, and the contribution o...

Metacognitive Training for Negative Symptoms (MCT-Minus) in schizophrenia: study protocol for a pragmatic randomized controlled trial

Abstract Background Negative symptoms are experienced by up to 60% of the individuals with schizophrenia and represent a stronger indicator of current and future functioning than positive symptoms. These symptoms respond poorly to pharmacological and existing psychosocial interve...

Comparison of Methods for Incorporating Related Data When Developing Clinical Prediction Models: A Simulation Study

Clinical Prediction Models (CPMs) compute an individual's risk of an outcome, given a set of predictors. Guidance states CPMs should be constructed using data sampled from the target population. However, researchers might have access to ancillary data sets from different time poi...

Endothelial function in relation to low-level chronic residential air pollution in a general population: a cohort study

Background Given the recently updated clean-air targets, this population study assessed endothelial function at low exposure to particulate matter with an aerodynamic diameter of ≤10 µm (PM10) and ≤2.5 µm (PM2.5), nitrogen dioxide (NO2), and black carbon (BC).Methods In 453 Flemi...

SIRT3 determines the sensitivity of cancer cells to mitochondrial targeting

Abstract SIRT3 is a mitochondria-localized member of the sirtuin family, playing a key role in cellular antioxidant defense. Its function in carcinogenesis and therapy response remains uncertain. In the present study, we sought to identify the role of SIRT3 in regulating cell dea...

Naïve adaptive immune receptor repertoires in celiac disease assessed by machine learning; impact of the HLA-DQ2.5 allotype on the TCR repertoire

Abstract The adaptive immune receptor repertoire (AIRR) - the collection of an individual’s B-cell and T-cell receptors (BCRs and TCRs, respectively) - encodes cumulative immune history and is shaped by both germline genetics and environmental exposures. Skewed repertoires have b...

Antidepressant Prescribing Trends for Adults With and Without Autism in the United Kingdom From 1997 to 2023: A Population‐Based Cohort Study Using Clinical Practice Research Datalink Aurum

Antidepressant prescribing and autism diagnoses have increased in recent years. We aimed to describe and compare trends in antidepressant prescribing, indications, doses and durations in autistic and non-autistic males and females in the United Kingdom (UK) from 1997 to 2023. Usi...

Plasma proteome reflects tissue damage and clinical manifestations in patients with inflammatory myopathies

OBJECTIVE: Tissue-specific biomarkers that are reliable and associated with clinical manifestations of idiopathic inflammatory myopathy (IIM) are lacking. The blood circulation in individuals serves as a central conduit, allowing communication between tissues and facilitating cle...