Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10771638PMC
http://dx.doi.org/10.1186/s13073-023-01278-0DOI Listing

Publication Analysis

Top Keywords

correction rare
4
rare predicted
4
predicted loss-of-function
4
loss-of-function variants
4
variants type
4
type ifn
4
ifn immunity
4
immunity genes
4
genes associated
4
associated life-threatening
4

Similar Publications

Correction: Diagnosis and management of hypoparathyroidism: recommendations of the working group of the bone section of the Hellenic endocrine society.

Hormones (Athens)

September 2025

Laboratory for Research of the Musculoskeletal System "Th. Garofalidis", Medical School, National and Kapodistrian University of Athens, KAT Hospital, 10 Athinas Str, Kifissia, Athens, PC: 14561, Greece.

View Article and Find Full Text PDF

Background And Importance: In the Czech Republic, paramedics are required to consult a physician before administering intravenous opioids, which may delay effective prehospital pain management. As paramedic competencies expand in Europe, it is important to evaluate the safety and efficacy of independent opioid administration in prehospital emergency care settings.

Objectives: To assess the safety and effectiveness of intravenous sufentanil administered independently by trained paramedics compared to administration following remote physician consultation in adult trauma patients.

View Article and Find Full Text PDF

Clinical profile and outcomes of pediatric uveitis: A retrospective analysis.

Medicine (Baltimore)

September 2025

Department of Ophthalmology, Inonu University Faculty of Medicine, Malatya, Turkey.

Uveitis is an inflammation of the anatomical layer, which consists of the iris, ciliary body and choroid. Pediatric uveitis is rare, but tends to be more severe and chronic than in adults. This study aims to evaluate the etiology, clinical features, treatment and complications in pediatric uveitis.

View Article and Find Full Text PDF

Rationale: This case highlights the importance of considering a wide range of possible diagnoses when faced with unexplained hemorrhagic symptoms. When standard investigations fail to identify a clear cause, it is essential to conduct a detailed dietary history. This can lead to the diagnosis of scurvy, a reversible vitamin C deficiency that is often overlooked in populations at risk.

View Article and Find Full Text PDF