Supporting Self-management Among Young People With Acne Vulgaris Through a Web-Based Behavioral Intervention: Development and Feasibility Randomized Controlled Trial

Background: Acne is a common skin condition that is most prevalent in young people. It can have a substantial impact on the quality of life, which can be minimized with the appropriate use of topical treatments. Nonadherence to topical treatments for acne is common and often leads to treatment failure. Objective: The aim of this study is to develop a web-based behavioral intervention to support the self-management of acne and to assess the feasibility of recruitment, retention, and engagement of users with the intervention. Methods: The intervention was developed iteratively using the LifeGuide software and following the person-based approach for intervention development. The target behavior was appropriate use of topical treatments. Barriers and facilitators identified from the qualitative research and evidence from the wider literature were used to identify techniques to improve and promote their use. Young people with acne aged 14-25 years who had received treatment for acne in the past 6 months were invited to participate through mail-out from primary care practices in the South of England in a parallel, unblinded randomized trial. Participants were automatically randomized using a computer-generated algorithm to usual care or to usual care plus access to the web-based intervention. Usage data was collected, and a series of questionnaires, including the primary outcome measure for skin-specific quality of life (Skindex-16), were collected at baseline and at the 4- and 6-week follow-ups. Results: A total of 1193 participants were invited, and 53 young people with acne were randomized to usual care (27/53, 51%) or usual care plus intervention (26/53, 49%). The response rate for the primary outcome measure (Skindex-16) was 87% at 4 weeks, 6 weeks, and at both time points. The estimate of mean scores between groups (with 95% CI) using linear regression showed a trend in the direction of benefit for the web-based intervention group in the primary outcome measure (Skindex-16) and secondary measures (Patient Health Questionnaire-4 and the Problematic Experiences of Therapy Scale). Intervention usage data showed high uptake of the core module in the usual care plus web-based intervention group, with 88% (23/26) of participants completing the module. Uptake of the optional modules was low, with less than half visiting each (myth-busting quiz: 27%; living with spots or acne: 42%; oral antibiotics: 19%; what are spots or acne: 27%; other treatments: 27%; talking to your general practitioner: 12%). Conclusions: This study demonstrated the feasibility of delivering a trial of a web-based intervention to support self-management in young people with acne. Additional work is needed before a full definitive trial, including enhancing engagement with the intervention, recruitment, and follow-up rates

Plasma oxalate: comparison of methodologies

Measurement of oxalate in the blood is essential for monitoring primary hyperoxaluria patients with progressive renal impairment and on dialysis prior to transplantation. As no external quality assurance scheme is available for this analyte, we conducted a sample exchange scheme between six laboratories specifcally involved with the investigation of primary hyperoxaluria to compare results. The methodologies compared were gas chromatography/mass spectrometry (GCMS), ion chromatography with mass spectrometry (ICMS), and enzymatic methods using oxalate oxidase and spectrophotometry. Although individual laboratories performed well in terms of reproducibility and linearity, there was poor agreement (absolute values) between centres as illustrated by a longer-term comparison of patient results from two of the participating laboratories. This situation was only partly related to diferences in calibration and mainly refected the lower recoveries seen with the ultrafltration of samples. These fndings lead us to conclude that longitudinal monitoring of primary hyperoxaluria patients with deteriorating kidney function should be performed by a single consistent laboratory and the methodology used should always be defned. In addition, plasma oxalate concentrations reported in registry studies and those associated with the risk of systemic oxalosis in published studies need to be interpreted in light of the methodology used. A reference method and external quality assurance scheme for plasma oxalate analysis would be benefcial

Nephrolithiasis related to inborn metabolic diseases

Nephrolithiasis associated with inborn metabolic diseases is a very rare condition with some common characteristics: early onset of symptoms, family history, associated tubular impairment, bilateral, multiple and recurrent stones, and association with nephrocalcinosis. The prognosis of such diseases may lead to life threatening conditions, not only because of unabated kidney damage but also because of progressive extra-renal involvement, either in a systemic form (e.g. primary hyperoxaluria type 1, requiring combined liver and kidney transplantation), or in a neurological form (Lesch–Nyhan syndrome leading to auto-mutilation and disability, phosphoribosyl pyrophosphate synthetase superactivity, which is associated with mental retardation). Patients with other inborn metabolic diseases present only with recurrent stone formation, such as cystinuria, adenine phosphoribosyl-transferase deficiency, xanthine deficiency. Finally, nephrolithiasis may be secondarily part of some other metabolic diseases, such as glycogen storage disease type 1 or inborn errors of metabolism leading to Fanconi syndrome (nephropathic cystinosis, tyrosinaemia type 1, fructose intolerance, Wilson disease, respiratory chain disorders, etc.). The diagnosis is based on highly specific investigations, including crystal identification, biochemical analyses and DNA study. The treatment of nephrolithiasis requires hydration as well as specific measures. Compliance is a major issue regarding the progression of renal damage, but the overall outcome mainly depends on extra-renal involvement in relation to the metabolic defect

'Gain with no pain’: anabolic-androgenic steroids trafficking in the UK

Anabolic-androgenic steroids are performance and image enhancing drugs (PIED) that can improve endurance and athletic performance, reduce body fat and stimulate muscle growth. The use of steroids has been studied extensively in the medical and psychological literature, as well as in the sociology of sport, health and masculinity. From the late 2000s, the worldwide trade in steroids increased significantly. However, trafficking in steroids remains a largely under-researched criminological phenomenon with a few notable exceptions. Currently in the UK there are only small and fragmented pieces of information available relating to steroids trafficking in autobiographical accounts of professional criminals. Drawing on original empirical data, the purpose of this article is to provide an account of the social organization of the steroids trafficking business in the UK. The trade in steroids is decentralized, highly flexible with no hierarchies, and open to anyone willing to either order the merchandise online or travel to producing countries and obtain steroids in bulk from legitimate manufacturers. The patterns of trafficking of this specific type of substance are patently conditioned by its embeddedness in the gym/bodybuilding scene and this greatly affects relations between actors in the business. In the steroids market, one typically encounters a multitude of individuals likely to drift between legality and illegality, online and offline, use and supply

High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

BACKGROUND: The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs). Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most common autosomal recessive disorder with a carrier frequency of 1:25 to 1:10. The gene that encodes 21-hydroxylase enzyme, CYP21A2, is considered to be one of the most polymorphic human genes. Copy number variations, such as deletions, which are severe mutations common in 21OHD patients, or gene duplications, which have been reported as rare events, have also been described. The correct characterization of 21OHD alleles is important for disease carrier detection and genetic counselling METHODOLOGY AND FINDINGS: CYP21A2 genotyping by sequencing has been performed in a random sample of the Spanish population, where 144 individuals recruited from university students and employees of the hospital were studied. The frequency of CYP21A2 mutated alleles in our sample was 15.3% (77.3% were mild mutations, 9% were severe mutations and 13.6% were novel variants). Gene dosage assessment was also performed when CYP21A2 gene duplication was suspected. This analysis showed that 7% of individuals bore a chromosome with a duplicated CYP21A2 gene, where one of the copies was mutated. CONCLUSIONS: As far as we know, the present study has shown the highest frequency of 21OHD carriers reported by a genotyping analysis. In addition, a high frequency of alleles with CYP21A2 duplications, which could be misinterpreted as 21OHD alleles, was found. Moreover, a high frequency of novel genetic variations with an unknown effect on 21-hydroxylase activity was also found. The high frequency of gene duplications, as well as novel variations, should be considered since they have an important involvement in carrier testing and genetic counseling