Publications by authors named "E P McCarron"
Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage. The natural history of the attenuated form is poorly understood, but it typically presents with spastic paraparesis, progressing more slowly than the early-onset or infantile variant. Diagnosis relies on a high index of clinical suspicion, imaging studies, biochemistry, and molecular analysis.
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- Fabry disease can lead to chronic kidney disease (CKD) due to accumulated sphingolipids causing kidney damage, impacting treatment and prognostic planning.
- In a study of 405 Fabry patients, significant findings included that 60.5% received treatments, 29.7% had cardiovascular events, and 3.3% reached end-stage kidney disease (ESKD), with men facing higher risks.
- Key indicators for CKD development included older age, history of cardiovascular issues, specific medication use, and higher urine albumin-to-creatinine ratios, highlighting the need for monitoring even in patients with normal kidney function.
Purpose: The OlympiA randomized phase III trial compared 1 year of olaparib (OL) or placebo (PL) as adjuvant therapy in patients with germline , high-risk human epidermal growth factor receptor 2-negative early breast cancer after completing (neo)adjuvant chemotherapy ([N]ACT), surgery, and radiotherapy. The patient-reported outcome primary hypothesis was that OL-treated patients may experience greater fatigue during treatment.
Methods: Data were collected before random assignment, and at 6, 12, 18, and 24 months.