Publications by authors named "V Lundberg"

Inherited deficiency of the RNA lariat-debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in a 14-year-old boy who suffered from isolated SARS-CoV-2 brainstem encephalitis.

View Article and Find Full Text PDF
Article Synopsis
  • Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
  • The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
  • Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
View Article and Find Full Text PDF

Background: Many older patients experience constipation as a bothersome symptom with a negative impact on quality of life. During hospitalization, the focus is often on the reason for admission with the risk that other health problems are not prioritized. The aim of the study was to describe the prevalence of constipation and use of laxatives among older hospitalized patients and to investigate the associations with demographic factors, risk assessments and prescribed medications.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the long-term effects of low T-cell receptor excision circles (TRECs) in infants with 22q11 deletion syndrome (22q11DS), comparing them to those with normal TRECs and healthy controls.
  • At a median follow-up age of 16 years, infants with low TRECs showed significant immunologic deficits, such as reduced T-helper and T-regulatory cells, and altered B-cell profiles, indicating a greater risk for immune issues.
  • The findings highlight the importance of ongoing monitoring for individuals with low TRECs to address persistent immune dysfunctions associated with 22q11DS.
View Article and Find Full Text PDF

Management of type 2 diabetes mellitus (T2DM) is a serious medical need for millions of patients and clinicians worldwide. Numerous smartphone apps for T2DM management are available. Due to their global accessibility, computing power and cellular connectivity, the pervasiveness of mobile phones now provide an opportunity for non-invasive Digital Therapeutics that have the potential to manage disease by modifying patient behavior as new modality for disease management and intervention.

View Article and Find Full Text PDF