Search results for "Hair"
showing 10 items of 348 documents
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
2011
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…
Analysis of LSD in human body fluids and hair samples applying ImmunElute columns.
2000
Immunoaffinity extraction units (LSD ImmunElute) are commercially available for the analysis of lysergic acid diethylamide (LSD) in urine. The ImmunElute resin contains immobilized monoclonal antibodies to LSD. We applied the ImmunElute procedure to serum and also to human hair samples. For hair analysis the samples were first extracted with methanol under sonication. The extracts were then purified using the ImmunElute resin. LSD analysis was carried out with HPLC and fluorescence detection. The immunoaffinity extraction provides highly purified extracts for chromatographic analysis. The limit of detection (signal-to-noise ratio = 3) has been determined to be < 50 pg regardless of which sa…
Postmortem distribution of dihydrocodeine and metabolites in a fatal case of dihydrocodeine intoxication.
1998
A report of a fatal dihydrocodeine ingestion under substitution therapy is given. Quantitation of dihydrocodeine, dihydromorphine, N-nordihydrocodeine, dihydrocodeine-6-, dihydromorphine-6- and dihydromorphine-3-glucuronide was performed simultaneously after solid-phase extraction prior to HPLC analysis, and the analytes were detected using their native fluorescence. Postmortem concentrations of blood samples from different sampling sites as well as from liver, kidney and cerebrum are reported. A hair sample was investigated to prove long-term use of the substitute drug. Site-to-site differences of the analytes from blood samples were very small. The partition behavior of the opioid glucuro…
Hair Dyes in Cosmetics. Regulatory Aspects and Analytical Methods
2007
Abstract Fragrance ingredients are extensively used in perfumes and other cosmetics, providing us with a pleasant scent. However, different fragrance chemicals and other chemicals present in perfume composition have been shown to cause undesirable side effects. The EC Regulation prohibits and limits the contents of some of them in cosmetics. Other international organizations, such as the International Fragrance Association and the Research Institute for Fragrance Materials, work on the safety of fragrance chemicals and release reports on the convenience or not of using certain fragrance chemicals in cosmetics, depending on their toxicity. This chapter is focussed on the determination of fra…
Trichostasis spinulosa misdiagnosed as alopecia areata.
2020
‘It’s not a part of me, but it is what it is’: the struggle of becoming en-wheeled after spinal cord injury
2019
Many people who experience spinal cord injury become long-term wheelchair users. This article addresses the process of becoming en-wheeled through the case example of a disabled man called Patrick.An intrinsic case study informed by posthumanist developments was used. Within this design, Patrick and his manual wheelchair were the entangled participants of the inquiry.Interviews and fieldwork observation with Patrick were conducted. Qualitative data were analysed using the posthumanist notion of 'assemblages'.The results illuminate Patrick's struggle of negotiating a new embodied selfhood that includes the wheelchair. Patrick engaged in ableist rehabilitation after spinal cord injury to recu…
Usher syndrome: molecular links of pathogenesis, proteins and pathways.
2006
Contains fulltext : 50437.pdf (Publisher’s version ) (Closed access) Usher syndrome is the most common form of deaf-blindness. The syndrome is both clinically and genetically heterogeneous, and to date, eight causative genes have been identified. The proteins encoded by these genes are part of a dynamic protein complex that is present in hair cells of the inner ear and in photoreceptor cells of the retina. The localization of the Usher proteins and the phenotype in animal models indicate that the Usher protein complex is essential in the morphogenesis of the stereocilia bundle in hair cells and in the calycal processes of photoreceptor cells. In addition, the Usher proteins are important in…
Hair cortisol and cognitive performance in healthy older people
2013
Summary Worse cognitive performance in older people has been associated with hypothalamic—pituitary—adrenal axis dysregulation (in particular, higher cortisol levels). Analysis of hair cortisol concentrations (HCC) is a novel method to measure long-term cortisol exposure, and its relationship with cognition in healthy older people has not yet been studied. We investigated whether HCC (measured in hair scalp) and diurnal salivary cortisol levels (awakening, 30 min after awakening, and evening, across two days) were related to cognitive performance (assessed with the Trail-making Test A and B, Digit Span Forward and Backward, word list-RAVLT and Stories subtest of the Rivermead) in 57 healthy…
Exposure to mercury among 9-year-old Spanish children: Associated factors and trend throughout childhood
2019
Mercury is considered a neurotoxicant and human exposure occurs mainly from the consumption of marine species. We aimed to describe total mercury concentrations (THg) and associated factors in 9-year old children, as well as to explore the trend in THg from 4 to 9 years of age. The study population consisted of 9-year-old children participating in the INMA (Environment and Childhood) birth cohort study in Valencia, Spain (n = 405, 2013–2014). THg in hair samples was measured by atomic absorption spectrometry at the age of 4 and 9 years. Sociodemographic and dietary data was obtained through questionnaires. Multiple linear regression was used to explore the association between THg and covari…
Nodular Lesion in Cheek With a Hair Tuft
2017
Trichostasis spinulosa is a rarely diagnosed disorder of the pilosebaceous unit, characterized by retention of telogen hairs within the dilated follicles. A hair tuft can be seen protruding from the follicles. We present a case of trichostasis spinulosa associated with intradermal melanocytic nevi, where dermoscopy helps to identify this entity.