Publications by authors named "K R Heimdal"
Background: The estimated prevalence of tracheobronchomalacia (TBM) in children is about 1:2100. Prevalence of intrathoracic malacia is higher in children with chronic lung disease such as bronchiectasis and cystic fibrosis (CF) and may contribute to increased morbidity.
Objective: To determine the prevalence and assess clinical features of tracheomalacia (TM), TBM and bronchomalacia (BM) in patients with primary ciliary dyskinesia (PCD).
Article Synopsis
- Tubulin is a key component of the cytoskeleton and has various isotypes in animals, but it's unclear how these isotypes influence microtubule structures in different cell types.
- Research on 12 patients with primary ciliary dyskinesia and mouse models uncovered variants in the tubulin isotype that disrupted the formation of centrioles and cilia, impacting microtubule dynamics.
- The study identified different variants causing distinct effects on tubulin interactions, allowing for the classification of patients into three types of ciliopathic diseases, highlighting the unique roles of specific tubulin isotypes in cellular functions.
Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management.
Laryngoscope Investig Otolaryngol
February 2024
Objectives: The objective of this study was twofold: to determine the prevalence of arterial and venous thromboembolic events in the Norwegian Hereditary Hemorrhagic Telangiectasia (HHT) population, and to explore potential factors linked to such events, with particular emphasis on FVIII.
Methods: Patients with an HHT diagnosis attending the Otorhinolaryngology Department at Oslo University Hospital-Rikshospitalet were included consecutively between April 2021 and November 2022. We recorded the participants' medical history with an emphasis on thromboembolic events.
Background: The randomised double-blinded placebo-controlled EXIST-1-3 studies have showed everolimus effective with adverse effects reported as acceptable in treatment of symptoms in patients with tuberous sclerosis complex (TSC), although evidence of outcomes in clinical practice remains limited. This study aimed to investigate, in clinical practice, the effectiveness and safety of everolimus for epilepsy, renal angiomyolipoma (rAML), and subependymal giant cell astrocytoma (SEGA) in patients with TSC.
Results: The study included 64 patients with TSC (median age: 19, range 0.
Craniosynostosis (CS) is a common congenital anomaly defined by premature fusion of one or more cranial sutures. Syndromic CS involves additional organ anomalies or neurocognitive deficits and accounts for 25%-30% of the cases. In a recent population-based study by our group, 84% of the syndromic CS cases had a genetically verified diagnosis after targeted analyses.
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