Publications by authors named "Timothy Luebbert"
Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.
View Article and Find Full Text PDFChordomas are rare bony neoplasms usually unassociated with a familial tumor predisposition syndrome. The peak incidence of this midline axial skeletal tumor is in adulthood but when very young children are affected, consideration should be given to occurrence within the tuberous sclerosis (TS) complex, especially when presenting in neonates <3 months of age. To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex.
View Article and Find Full Text PDFArticle Synopsis
- Over 50% of acute kidney injury (AKI) cases in hospitalized patients are due to renal ischemia, significantly increasing the risk of death, especially with minor increases in serum creatinine levels.
- Surgical procedures like aortic cross-clamping can lead to renal failure rates of up to 30%, and over 10% of cardiac surgery patients experience AKI, which greatly raises mortality rates.
- There is a pressing need for new therapeutic approaches to prevent ischemia-related renal injury, and mouse models are crucial for researching these mechanisms, though creating these models presents technical challenges.