Karolinska University Hospital

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

PAX6 encodes a dosage-sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality. Her...

Lifestyle risk factors for cervical glandular and squamous cell neoplasia: insights from a prospective cohort study of over 117,000 women

Abstract Background While cervical cancer screening has successfully reduced squamous cell carcinoma (SCC) rates, adenocarcinoma (AC) incidence is rising, particularly among younger women. Although SCC and AC differ in genomics and treatment responses, evidence regarding their di...

Bariatric Surgery and Risk of Obesity-Related Cancer by Age and Sex

Importance Obesity is associated with elevated risks for multiple cancers. How bariatric surgery influences these risks across age and sex is insufficiently understood. Objective To evaluate the association between bariatric surgery and obesity-related cancer (breast, endometrial...

Expression patterns of CD24 and CD27 resolve the origins and gradual differentiation of CD11c+ atypical memory B-cells after malaria infection

Abstract Atypical B-cells (ABCs) are observed across infections, yet their ontogeny and differentiation remain unclear. Using high-dimensional flow cytometry, single-cell transcriptomics, V(D)J sequencing, and functional assays in samples from individuals with malaria and healthy...

Long‐COVID Associated With Incident Hypertension: A Population‐Based Cohort Study

Background Long COVID has been linked to persistent autonomic and vascular abnormalities, but its impact on hypertension among non‐hospitalized COVID‐19 convalescents remains unclear. Given the link between blood pressure and cardiovascular morbidity, understanding how long COVID...

Invasive Cervical Cancers After an HPV ‐Negative Test: Insights From HPV Testing Histories

ABSTRACT Human papillomavirus (HPV) testing is the primary method for cervical screening, and a negative HPV test is associated with a very low subsequent risk of invasive cancer. Nevertheless, some cervical cancers are diagnosed following an HPV‐negative test. Using Swedish regi...

Using multi-trait polygenic scores to predict lithium responsiveness in patients with bipolar disorder

Background The predictive power of polygenic scores (PGSs) for lithium treatment response in bipolar disorder remains limited. Aims To enhance the prediction of lithium responsiveness by developing a multi-trait PGS (mt-PGS) combining genetic information from multiple phenotypes...

Employment status and occupation are associated with liver cirrhosis: A nationwide Swedish case–control study

Abstract Background Liver cirrhosis is often diagnosed in working‐age adults and carries a poor prognosis. A better understanding of variation by employment status and occupation may support earlier and more targeted diagnostic evaluation. Objectives To assess the odds of liver c...

New potassium binders: we need them - we do not need them

Abstract New potassium binders may facilitate contemporary chronic kidney disease care by controlling hyperkalemia and thereby facilitating the continued use of kidney- and cardioprotective therapies, particularly renin-angiotensin-aldosterone system inhibitors. The opposing view...

Low Parental Income During Childhood Is Associated With Coronary Atherosclerosis in Midlife

Background Socioeconomic status (SES) is a major risk factor for coronary heart disease, but the life‐course mechanisms and causal pathways remain poorly understood. Therefore, we investigated whether low childhood SES was associated with midlife coronary atherosclerosis and if a...

Efficacy of Local Treatment in Patients With Rheumatic Diseases Affecting the Temporomandibular Joint—A Systematic Review

ABSTRACT Background Temporomandibular joint (TMJ) involvement in rheumatic inflammatory arthropathies (RIA) has been sparsely described, and evidence regarding local treatment options for affected TMJs remains limited. Objectives To perform a systematic review (SR) regarding loca...

Deep phenotyping of white matter tissue composition in dementia with Lewy bodies

Abstract Background White matter signal abnormalities (WMSA) on MRI are common in dementia with Lewy bodies (DLB), and more severe WMSA have been associated with increased neurodegeneration in DLB. However, the underlying mechanisms of WMSA remain unclear. Single-Shell 3-Tissue C...

Beyond CD4 counts: Multi‐biomarker assessment of estimated time since HIV ‐1 infection and risk factors for late diagnosis

BACKGROUND: Late diagnosis (LD) of HIV, defined as CD4 count <350 cells/μL or AIDS at diagnosis, remains a substantial public health challenge, with half of individuals in Europe diagnosed late. How long these individuals have lived with HIV remains unclear. We applied a multi-bi...

Whole-genome 5-hydroxymethylation profiling of human neurons for regulatory and biological insight

Abstract While 5-methylcytosine (5mC) DNA methylation is a well-known player in genome stability and transcriptional regulation, the role of 5-hydroxymethylcytosine (5hmC), particularly prevalent in neurons, remains largely unknown. Here, we used long-read Oxford Nanopore Technol...

Bilateral sensorineural hearing loss in children: causes and long-term progression

Abstract Purpose Childhood hearing loss (CHL) in need of assisting listening devices require a constant surveillance for hearing loss (HL) progression and adjustment of interventions. Despite advances in aetiological investigations, there are still important gaps in understanding...

Conserved hepatic RNA signatures across multiple cohorts reveal novel mechanistic clues for advanced fibrosis in human MASLD.

BACKGROUND: Fibrosis development in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) is a key indicator of disease progression and clinical outcome. Bulk and single-cell transcriptomics on human tissue have advanced understanding of fibrosis progress...

The Thalamic Synthesis of Consciousness (TSoC): A Neuroanatomical Theory of Unified Experience

The Thalamic Synthesis of Consciousness (TSoC) theory proposes that unified consciousexperience arises from rhythmic thalamocortical integration of distributed cortical and subcorticalactivity. Rather than functioning as a passive relay, the thalamus is conceptualized as an activ...

Changes in vocal fold contact across the voice field after injection laryngoplasty

Rationale: Unilateral vocal fold paralysis (UVFP) causes glottic insufficiency that varies in severity across the phonation range, yet treatment outcomes are typically evaluated through perceptual ratings or acoustic indices obtained at a single vocal effort level. This study use...

Indirect derivative fast Padé transform applied to magnetic resonance spectroscopy

Abstract This article is on lineshape profiles by indirect derivatives of spectra reconstructed from time signals or free induction decay (FID) data encoded by magnetic resonance spectroscopy (MRS). Only the nonparametric reconstructions (shape estimations) are performed using fo...

Probiotics and Risk of Death, Necrotizing Enterocolitis, and Sepsis in Very Preterm Infants

Importance Probiotics are reported to benefit preterm infants, but population-based clinical evidence is limited. In 2020, the Swedish Neonatal Society issued a national recommendation to supplement very preterm infants (28 weeks 0 days’ to 31 weeks 6 days’ gestation) with probio...