Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance.

In 2018 the Amsterdam University Medical Centre decided to prepare chenodeoxycholic acid (CDCA) capsules (also known as pharmacy compounding) for patients with the genetic metabolic disease cerebrotendinous xanthomatosis (CTX) when the product with a marketing authorization was commercially unavailable for patients. However, after reanalysis, unknown impurities were identified in the CDCA active pharmaceutical ingredient (API) using thin-layer chromatography from the European Pharmacopoeia (Ph.Eur.

Glycodeoxycholic acid as alternative treatment in 3β-hydroxy-Δ5-C-steroid-oxidoreductase: a case report.

Background: 3β-hydroxy-Δ5-C27-steroid-oxidoreductase (3β-HSD) deficiency is a bile acid synthesis disorder that leads to the absence of normal primary bile acids and the accumulation of abnormal bile acids. This results in cholestatic jaundice, fat-soluble vitamin deficiency, acholic or fatty stools and failure to thrive. Bile acid supplementation is used to treat 3β-HSD-deficiency and its symptoms.

Experiences of people with dual sensory loss in various areas of life: A qualitative study.

Individuals with dual sensory loss (DSL) appear to have limited ability to compensate for their visual impairment with residual hearing, or for their hearing impairment with residual vision, resulting in challenges in various areas of life. The aim of this qualitative study was to explore the diverse experiences facing individuals with DSL as well as to determine how they experience sensory compensation. Semi-structured interviews were carried out in twenty adults with DSL (13 females and 7 males, mean age 47 years).

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Background And Aims: Cerebrotendinous Xanthomatosis (CTX) is a treatable disorder of bile acid synthesis caused by deficiency of 27-sterol hydroxylase -encoded by CYP27A1- leading to gastrointestinal and progressive neuropsychiatric symptoms. Biochemically, CTX is characterized by accumulation of the bile alcohol cholestanetetrol glucuronide (GlcA-tetrol) and the deficiency of tauro-chenodeoxycholic acid (t-CDCA) and tauro-trihydroxycholestanoic acid (t-THCA).

Materials And Methods: To ascertain the feasibility of CTX newborn screening (NBS) we performed a study with deidentified Dutch dried blood spots using reagents and equipment that is frequently used in NBS laboratories.

Early Career Perspectives from Large Pharma, Software, and Start-up Companies.

We are often approached by PhD students and postdocs who wonder: What are the differences between jobs for computational chemists across different industries? This Perspective aims to answer this question by comparing our personal experiences as early career scientists at a large pharmaceutical company (large pharma), a software vendor (software), and a biotech start-up (start-up) in the format of a written Q&A panel discussion. To begin, we introduce ourselves by answering questions about our backgrounds and current positions, including comparisons of our responsibilities and the culture of the companies where we work. In the next section, we focus on the beginning of our careers, discussing the skills we needed for our first industry positions and what we learned early on.