ABSTRACT
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons and peripheral nerves. We conducted this review to evaluate lipid profile abnormalities in patients with CTX. A search was conducted in PubMed, Embase and the Virtual Health Library in January 2023 to evaluate studies reporting the lipid profiles of CTX patients, including the levels of cholestanol, cholesterol and other lipids. Elevated levels of cholestanol were consistently observed. Most patients presented normal or low serum cholesterol levels. A decrease in chenodeoxycholic acid (CDCA) leads to increased synthesis of cholesterol metabolites, such as bile alcohols 23S-pentol and 25-tetrol 3-glucuronide, which may serve as surrogate follow-up markers in patients with CTX. Lipid abnormalities in CTX have clinical implications. Cholestanol deposition in tissues contributes to clinical manifestations, including neurological symptoms and tendon xanthomas. Dyslipidemia and abnormal cholesterol metabolism may also contribute to the increased risk of atherosclerosis and cardiovascular complications observed in some CTX patients.
ABSTRACT
Nano-structured phase masks offer intriguing possibilities in electron-beam shaping. The fabrication of such phase masks is typically achieved by focused (Ga+-)ion beam milling of thin membranes. To overcome the problem of Ga implantation in the phase mask, we explore the fabrication of silicon-nitride phase masks using thermal scanning probe lithography combined with wet and dry etching. The functionality of the phase masks is demonstrated by generation of electron Vortex and Bessel beams. Major benefit of thermal scanning probe lithography in addition to the absence of ion implantation is the high accuracy and control over the patterned structure and depth.
