Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy.

is responsible for encoding of the Nogo-B receptor (NgBR), which is a subunit of cis-prenyltransferase. Over 25 variants in have been reported, and these variants have been found to be associated with various phenotypes, such as congenital disorders of glycosylation (CDG) and developmental and epileptic encephalopathy (DEE). We report on the case of a patient who presented with language and motor retardation, epilepsy, and electroencephalogram abnormalities.

Myelin oligodendrocyte glycoprotein antibody-associated aseptic meningitis without neurological parenchymal lesions: A novel phenotype.

Background: Myelin oligodendrocyte glycoprotein (MOG) antibodies mediate inflammatory demyelinating diseases of the central nervous system. This study aimed to understand the clinical characteristics of MOG antibody-associated aseptic meningitis (MOGAM).

Methods: Here, we report the cases of two children with MOGAM.

Anionic metal-organic framework as a unique turn-on fluorescent chemical sensor for ultra-sensitive detection of antibiotics.

Herein, an anionic metal-organic framework, formulated as {[Zn(OH)(bmipia)(HO)]·[Zn(HO)6.5]} (FCS-3), was prepared from zinc ions and semi-rigid carboxylate ligands of 5-[N,N-bis(5-methylisophthalic acid)amion] isophthalic acid (Hbmipia) and was employed as a unique fluorescence turn-on chemical sensor for the ultra-sensitive detection of various antibiotics in the aqueous phase.

Fluorescent Metal-Organic Framework (MOF) as a Highly Sensitive and Quickly Responsive Chemical Sensor for the Detection of Antibiotics in Simulated Wastewater.

A Zn(II)-based fluorescent metal-organic framework (MOF) was synthesized and applied as a highly sensitive and quickly responsive chemical sensor for antibiotic detection in simulated wastewater. The fluorescent chemical sensor, denoted FCS-1, exhibited enhanced fluorescence derived from its highly ordered, 3D MOF structure as well as excellent water stability in the practical pH range of simulated antibiotic wastewater (pH = 3.0-9.