Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome.

J Lipid Res

Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, PR China. Electronic address:

Published: June 2022

7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients. Hair samples have been shown to have great diagnostic and research value, which has long been neglected in the SLOS field. In this study, we sought to investigate the feasibility of using hair for SLOS diagnosis. In the presence of antioxidants (2,6-ditert-butyl-4-methylphenol and triphenylphosphine), hair samples were completely pulverized and extracted by micro-pulverized extraction in alkaline solution or in n-hexane. After microwave-assisted derivatization with N,O-Bis(trimethylsilyl)trifluoroacetamide, the analytes were measured by GC-MS. We found that the limits of determination for 7-DHC and CHOL were 10 ng/mg and 8 ng/mg, respectively. In addition, good linearity was obtained in the range of 50-4000 ng/mg and 30-6000 ng/mg for 7-DHC and CHOL, respectively, which fully meets the requirement for SLOS diagnosis and related research. Finally, by applying the proposed method to real hair samples collected from 14 healthy infants and two suspected SLOS patients, we confirmed the feasibility of hair analysis as a diagnostic tool for SLOS. In conclusion, we present an optimized and validated analytical method for the simultaneous determination of two SLOS biomarkers using human hair.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207299PMC
http://dx.doi.org/10.1016/j.jlr.2022.100228DOI Listing

Publication Analysis

Top Keywords

hair samples
12
smith-lemli-opitz syndrome
8
feasibility hair
8
slos diagnosis
8
7-dhc chol
8
hair
7
slos
7
measurement 7-dehydrocholesterol
4
7-dehydrocholesterol cholesterol
4
cholesterol hair
4

Similar Publications

Heavy metal pollution has complex impacts on terrestrial ecosystems, affecting biodiversity, trophic relationships, species health, and the quality of natural resources. This study aims to validate a non-invasive method for detecting heavy metals (Cd, As, Zn, Cu, Cr) in micromammalian prey, which constitute the primary diet of the common genet (), a mesocarnivore sensitive to habitat degradation. By focusing on prey remains (hair and bones) rather than entire fecal samples, this approach leverages the genet's selective feeding habits to assess the bioaccumulation of contaminants in its preferred prey.

View Article and Find Full Text PDF

Behavioral Signature of Equine Gastric Discomfort? Preliminary Retrospective Clinical Observations.

Animals (Basel)

January 2025

Havemeyer Equine Behavior Laboratory, Section of Reproduction and Behavior, Department of Clinical Studies, University of Pennsylvania School of Veterinary Medicine, New Bolton Center, Kennett Square, PA 19348, USA.

Gastric ulcer disease and other potentially painful gastric conditions are among the most common afflictions adversely affecting the welfare of domestic equids. A large percentage of affected animals may not display the classic signs of gastric disease, such as unexplained weight loss, poor hair coat, and inappetence until the disease becomes severe. As a clinical service within our equine referral hospital, we routinely evaluate 24-h video recorded samples of horses to assist clinicians in identifying subtle discomfort and potential sources or to scan for infrequent neurologic or cardiac-related behavioral events.

View Article and Find Full Text PDF

In intensive beef production systems, social dominance relationships among cattle and human-cattle relationships constantly affect cattle welfare. However, these factors have not been investigated to assess their long-term effects on cattle welfare. In this study, the relations of hair cortisol concentrations of group-housed pregnant cows with their social rank and avoidance distance when approached by humans were analysed.

View Article and Find Full Text PDF

The associations between paternal postpartum depressive symptoms and testosterone and cortisol levels in hair over the first two years postpartum.

Prog Neuropsychopharmacol Biol Psychiatry

January 2025

Department of Psychotherapy and Psychosomatic Medicine, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany. Electronic address:

Background: After the birth of a child, also fathers may develop postpartum depression. Altered steroid hormone concentrations are discussed as a possible underlying mechanism, as these have been associated with depressive symptoms in previous studies outside the postpartum period. While higher paternal testosterone levels have been found to protect against paternal postpartum depressive symptoms (PPDS), an association between higher cortisol levels and PPDS has been seen in postpartum mothers, with no comparable studies available on fathers.

View Article and Find Full Text PDF

Maternal pre- and postnatal stress and maternal and infant gut microbiota features.

Psychoneuroendocrinology

January 2025

Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Department of Cognitive Neuroscience, Nijmegen, the Netherlands.

Background: Maternal stress can have short and long term adverse (mental) health effects for the mother and her child. Previous evidence suggests that the gut microbiota may be a potential mediator and moderator for the effects of stress via various pathways. This study explored the maternal microbiota trajectory during pregnancy as well as the association between pre- and postnatal maternal stress and features of the maternal and infant gut microbiota during and after pregnancy.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!