A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review.

Neuronal ceroid lipofuscinosis type 10 (NCL10) is a rare progressive neurodegenerative disease associated with homozygous or compound heterozygous mutations in the CTSD gene encoding cathepsin D protein. It is classified as congenital, infantile, or juvenile NCL10 according to the age at onset of symptoms. Six cases of juvenile onset NCL10 (JNCL10) have been reported thus far in the literature.

Association of bisphenol A with 25(OH)D, 1,25(OH)D levels and 1,25(OH)2D/25(OH)D ratio in cord blood.

The aim was to investigate the association between bisphenol A (BPA), 25-hydroxy vitamin D [25(OH)D], and 1α,25 dihydroxy vitamin D [1,25(OH)D] levels in the cord blood of newborn babies. BPA was measured by high pressure liquid chromatography (HPLC) and vitamin D levels by commercial ELISA or ECLIA kits. BPA and Vitamin D levels were grouped according to tertile values.