Publications by authors named "Sigurbjorg J Skarphedinsdottir"
Background: Despite multiple studies suggesting that low 25(OH)D-vitamin levels are associated with worse outcomes in critically ill individuals, attempts to mitigate the outcomes by fixed dose enteral supplementation unguided by baseline or target blood levels have been unsuccessful. Since a single measurement of 25(OH)D may not optimally reflect an individual's vitamin D status, we studied the plasma concentration of different vitamin D metabolites and their recovery during and following resolution of acute critical illness.
Methods: A prospective observational study including patients 18 years and older admitted to a mixed medical-surgical ICU in Reykjavik, Iceland, located at a high-northern altitude (64° N).
Article Synopsis
- Malignant hyperthermia (MH) is a rare but potentially deadly disorder triggered by certain agents, mainly due to specific genetic variants in the RYR1 and CACNA1S genes.
- A case study is presented involving a 10-year-old with a suspected MH episode who has a likely pathogenic variant in RYR1, which appears to be unique to a small family cluster and not found in a large population dataset.
- Research on whole-genome sequencing of 62,240 Icelanders revealed 13 actionable variants in RYR1, indicating that approximately 1 in 1450 individuals carry these variants, emphasizing the importance of genetic testing to prevent MH incidents during anesthesia.
Tuberculosis is a rare cause of (ARDS) and mortality rates are high in tuberculosis patients that need treatment with mechanical ventilation. Experience of the use of (ECMO) in such circumstances is scarce. We report the case of an 18 year old man where prolonged therapy (50 days) with (ECMO) allowed extensive lung damage from miliary tuberculosis to heal.
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