Publications by authors named "William J Laxen"
D-2-hydroxyglutarate (D-2-HG) is a well-established oncometabolite of isocitrate dehydrogenase (IDH) mutant gliomas. While prior studies have demonstrated that D-2-HG is elevated in the cerebrospinal fluid (CSF) of patients with IDH-mutant gliomas , no study has determined if CSF D-2-HG can provide a plausible method to evaluate therapeutic response. We are obtaining CSF samples from consenting patients during their disease course via intra-operative collection and Ommaya reservoirs.
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- Mitochondrial disorders exhibit a complex range of symptoms that complicate understanding of these organelles' roles in health and disease, particularly in cases like Leigh Syndrome French Canadian Type (LSFC).
- Researchers developed a novel genetic model using zebrafish, which mimics key characteristics of LSFC, including liver dysfunction and metabolic issues, by targeting specific genetic variations.
- The study found that liver-specific genetic therapies could effectively reverse the symptoms in the zebrafish model, highlighting the liver's important role in the disease's progression.
Introduction: Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration of possible medical causes including coagulation, hematologic, metabolic and other genetic disorders, as well as witnessed and unwitnessed accidental injuries.
Case Presentation: We present a 7-month-old male with spells and incidental findings of bilateral subdural hematomas, retinal hemorrhages, and secondary macrocephaly, leading to investigation for NAT.