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Regular arm or leg actions in individuals with obstructive sleep apnea malady.
Results At room temperature, chlamydial DNA in urine is stable for up to 3 weeks and gonococcal DNA for up to 11 days. We analysed data for 147 infections (81 NG and 66 CT). The median time to clearance of infection was 4 days (IQR 2-10 days) for NG infection and 10 days (IQR 7-14 days) for CT infection. Vaginal CT infections took longer to clear (p=0.031). NG infection in men who have sex with men took longer to clear (p=0.052). Conclusion Chlamydial and gonococcal nucleic acids are stable in urine before addition of preservatives, longer than recommended by the manufacturer. The TOC results suggest that it may be possible to undertake TOC for NG and CT infections earlier than current guidelines suggest and that anatomical site of infection may affect time to clearance of infection.Background The chromosomal region 11p15.5 harbours two imprinting centres (H19/IGF2IG-DMR/IC1, KCNQ1OT1TSS-DMR/IC2). Molecular alterations of the IC2 are associated with Beckwith-Wiedemann syndrome (BWS), whereas only single patients with growth retardation and Silver-Russell syndrome (SRS) features have been reported. CNVs in 11p15.5 account for less than 1% of patients with BWS and SRS, and they mainly consist of duplications of both ICs either affecting the maternal (SRS) or the paternal (BWS) allele. However, this correlation does not apply to smaller CNVs, which are associated with diverse clinical outcomes. Methods and results We identified a family with a 132 bp deletion within the KCNQ1OT1 gene, associated with growth retardation in case of paternal transmission but a normal phenotype when maternally inherited. Comparison of molecular and clinical data with cases from the literature helped to delineate its functional relevance. Conclusion Microdeletions within the paternal IC2 affecting the KCNQ1OT1 gene have been described in only five families, and they all include the differentially methylated region KCNQ1OT1TSS-DMR/IC2 and parts of the KCNQ1 gene. However, these deletions have different impacts on the expression of both genes and the cell-cycle inhibitor CDKN1C. They thereby cause different phenotypes. The 132 bp deletion is the smallest deletion in the IC2 reported so far. It does not affect the IC2 methylation in general and the coding sequence of the KCNQ1 gene. Thus, the deletion is only associated with a growth retardation phenotype when paternally transmitted but not with other clinical features in case of maternal inheritance as observed for larger deletions.Silver-Russell syndrome (SRS) is a representative imprinting disorder. A major cause is the loss of methylation (LOM) of imprinting control region 1 (ICR1) within the IGF2/H19 domain. ICR1 is a gametic differentially methylated region (DMR) consisting of two repeat blocks, with each block including three CTCF target sites (CTSs). ICR1-LOM on the paternal allele allows CTCF to bind to CTSs, resulting in IGF2 repression on the paternal allele and biallelic expression of H19 We analysed 10 differentially methylated sites (DMSs) (ie, seven CTSs and three somatic DMRs within the IGF2/H19 domain, including two IGF2-DMRs and the H19-promoter) in five SRS patients with ICR1-LOM. Four patients showed consistent hypomethylation at all DMSs; however, one exhibited a peculiar LOM pattern, showing LOM at the centromeric region of the IGF2/H19 domain but normal methylation at the telomeric region. This raised important points there may be a separate regulation of DNA methylation for the two repeat blocks within ICR1; there is independent control of somatic DMRs under each repeat block; sufficient IGF2 repression to cause SRS phenotypes occurs by LOM only in the centromeric block; and the need for simultaneous methylation analysis of several DMSs in both blocks for a correct molecular diagnosis.Purpose The contribution of rare genetic variation in the development of soft-tissue sarcoma (STS) remains underexplored. To address this gap, we conducted a whole-exome case-control and somatic-germline interaction study to identify and characterise STS susceptible genes. Methods The study involved 219 STS cases from The Cancer Genome Atlas and 3507 controls. All cases and controls were matched genetically onEuropean ancestry based on the 1000 Genomes project. Cross-platform technological stratification was performed with XPAT and gene-based association tests with VAAST 2. Results NF1 exhibited the strongest genome-wide signal across the six subtypes, with p=1×10-5. We also observed nominally significant association signals for three additional genes of interest, TP53 (p=0.0025), RB1 (p=0.0281), and MSH2 (p=0.0085). BAG1, which has not previously been implicated in STS, exhibited the strongest genome-wide signal after NF1, with p=6×10-5. The association signals for NF1 and MSH2 were driven primarily by truncating variants, with ORs of 39 (95% CI 7.1 to 220) for NF1 and 33 (95% CI 2.4 to 460) for MSH2. https://www.selleckchem.com/products/halofuginone.html In contrast, the association signals for RB1 and BAG1 were driven primarily by predicted damaging missense variants, with estimated ORs of 12 (95% CI 2.4 to 59) for RB1 and 20 (95% CI 1.4 to 300) for BAG1. Conclusions Our results confirm that pathogenic variants in NF1, RB1 and TP53 confer large increases in the risk of developing multiple STS subtypes, provide support for the role of MSH2 in STS susceptibility and identify BAG1 as a novel candidate STS risk gene.Background Performance in the operating room is an important determinant of surgical safety. Flow disruptions (FDs) represent system-related performance problems that affect the efficiency of the surgical team and have been associated with a risk to patient safety. Despite the growing evidence base on FDs, a systematic synthesis has not yet been published. Objective Our aim was to identify, evaluate and summarise the evidence on relationships between intraoperative FD events and provider, surgical process and patient outcomes. Methods We systematically searched databases MEDLINE, Embase and PsycINFO (last update September 2019). Two reviewers independently screened the resulting studies at the title/abstract and full text stage in duplicate, and all inconsistencies were resolved through discussion. We assessed the risk of bias of included studies using established and validated tools. We summarised effects from included studies through a narrative synthesis, stratified based on predefined surgical outcome categories, including surgical process, provider and patient outcomes. Results We screened a total of 20 481 studies. 38 studies were found to be eligible. Included studies were highly heterogeneous in terms of methodology, medical specialty and context. Across studies, 20.5% of operating time was attributed to FDs. Various other process, patient and provider outcomes were reported. Most studies reported negative or non-significant associations of FDs with surgical outcomes. Conclusion Apart from the identified relationship of FDs with procedure duration, the evidence base concerning the impact of FDs on provider, surgical process and patient outcomes is limited and heterogeneous. We further provide recommendations concerning use of methods, relevant outcomes and avenues for future research on associated effects of FDs in surgery.Background The Philippines has a high smoking prevalence and one of the largest tobacco menthol market shares in the world. Flavour capsule cigarettes were introduced to the Philippines in 2013, most of which are menthol flavoured, and their market share is increasing. We explored perceptions of flavoured cigarette packaging among young adult Filipinos. Methods We conducted eight focus groups with 63 young adults ages 18-24 years in Manila in 2019, stratified by gender and smoking status. We conducted a thematic analysis of the transcripts. Results Most participants assessed relative harm of cigarettes based on strength, mainly determined by colour of the packaging. Menthol cigarettes with primarily blue packaging were considered less harmful than menthol cigarettes with primarily green packaging. Many participants considered flavour capsule packs most attractive, compared with non-flavoured and traditional menthol cigarettes, due to the colouring of the packs and expectations regarding taste. Some participants likened the capsules and the taste of flavour capsule cigarettes to candy, and many participants thought flavour capsule cigarettes would most likely be smoked by teenagers or young adults. Conclusions Young adult Filipinos believe that some menthol-flavoured cigarettes are less harmful than other flavoured cigarettes and non-flavoured cigarettes and find flavour capsule cigarettes attractive. A tobacco flavour ban and implementation of plain packaging might help reduce misperceptions of risk and make cigarettes less appealing.Background Exposure to the use of first, second and third generations of electronic cigarettes (e-cigarettes) elicits the desire to vape and smoke among observers, as well as facilitates smoking behaviour. Given the rapid rise in the popularity of the pod mod JUUL, we examined whether observing the use of this device would elicit similar responses in smokers. Exploratory analyses were also conducted to determine whether JUUL can act as a smoking cue for former smokers. Methods The sample consisted of 82 young adult participants (62 current smokers and 20 former smokers approximately 1 year smoke free). The study examined their response to observing use of bottled water (control cue) and JUUL (active cue) in a controlled laboratory paradigm. Both cues were delivered by a trained study confederate under the guise of a social interaction task, and participants completed mood and desire and urge surveys precue and postcue exposures. Results In current smokers, exposure to the JUUL cue increased smoking urge and desire for a cigarette, mod/vape pen and JUUL, and two-thirds chose to smoke in the behavioural analogue task. In former smokers, the JUUL cue evoked modest and transient increases in desire for a cigarette and JUUL. Conclusions The use of JUUL affects the user and elicits responses in observers; this study is the first to demonstrate that exposure to JUUL use may act as a smoking cue and exposure to JUUL use may affect tobacco control efforts.Significance Electronic nicotine delivery system (ENDS) use has continued to increase exponentially among young people in the USA, with unique flavours being one of the most cited reasons for use. Yet, controlled studies examining the effects of restricting flavour are lacking. This study evaluates the impact of ENDS flavour manipulation on user's puffing behaviour, subjective experience, harm perception and nicotine exposure among college-aged ENDS users. Methods JUUL users (n=30, age 18 to 24 years) attended two 60 min ad libitum ENDS use sessions (JUUL preferred flavour vs JUUL classic tobacco flavour) in a cross-over design. Puff topography and plasma nicotine concentration were measured, and participants completed subjective experience questionnaires. Results Increases were observed on measures of satisfaction, taste, enjoyment, urges to vape/smoke, pleasure, product appeal and increased concentration following using the preferred flavour pod (p values less then 0.05). Compared with preferred flavour, participants in the tobacco flavour were less motivated to use it in the future (70.
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