83 research outputs found
Changes in alcohol use during the COVID-19 pandemic in Europe: a meta-analysis of observational studies
Measuring for change : A multi-centre pre-post trial of an air quality feedback intervention to promote smoke-free homes
Second-hand smoke exposure in the home is a serious cause of ill-health for children. Behaviour change interventions have been developed to encourage parents to keep homes smoke-free. This study evaluates a novel air quality feedback intervention using remote air quality monitoring with SMS and email messaging to promote smoke-free homes among families from deprived areas. This paper presents a pre-post study of this intervention. Using internet connected monitors developed with the Dylos DC1700, daily SMS and weekly email feedback provided for 16 days to participants recruited in four European countries. Participants were recruited based on their stage of change, in order to target those most able to achieve smoke-free homes. The primary outcome measure was median change in mean fine particulate matter (PM) concentration between baseline and follow-up periods, while secondary outcome measures included change in time over the World Health Organisation (WHO) guideline limit for PM exposure over 24 h (25 ”g/m) in those periods and the number of homes where PM concentrations reduced. Telephone interviews were conducted with participants in Scotland post-intervention to explore intervention experience and perceived effectiveness. Of 86 homes that completed the intervention study, 57 (66%) experienced pre-post reductions in measured PM. The median reduction experienced was 4.1 ”g/m (a reduction of 19% from baseline, p = 0.008). Eight homes where concentrations were higher than the WHO guideline limit at baseline fell below that level at follow-up. In follow-up interviews, participants expressed positive views on the usefulness of air quality feedback. Household air quality monitoring with SMS and email feedback can lead to behaviour change and consequent reductions in SHS in homes, but within the context of our study few homes became totally smoke-free
Laryngeal Reinnervation Using Ansa Cervicalis for Thyroid Surgery-Related Unilateral Vocal Fold Paralysis: A Long-Term Outcome Analysis of 237 Cases
To evaluate the long-term efficacy of delayed laryngeal reinnervation using the main branch of the ansa cervicalis in treatment of unilateral vocal fold paralysis (UVFP) caused by thyroid surgery.UVFP remains a serious complication of thyroid surgery. Up to now, a completely satisfactory surgical treatment of UVFP has been elusive.From Jan. 1996 to Jan. 2008, a total of 237 UVFP patients who underwent ansa cervicalis main branch-to-recurrent laryngeal nerve (RLN) anastomosis were enrolled as UVFP group; another 237 age- and gender-matched normal subjects served as control group. Videostroboscopy, vocal function assessment (acoustic analysis, perceptual evaluation and maximum phonation time), and electromyography were performed preoperatively and postoperatively. The mean follow-up period was 5.2±2.7 years, ranging from 2 to 12 years.>0.05, respectively). Postoperative laryngeal electromyography confirmed successful reinnervation of laryngeal muscle.Delayed laryngeal reinnervation with the main branch of ansa cervicalis is a feasible and effective approach for treatment of thyroid surgery-related UVFP; it can restore the physiological laryngeal phonatory function to the normal or a nearly normal voice quality
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia
Although coding variants in THAP1 have been causally associated with primary dystonia, the contribution of noncoding variants remains uncertain. Herein, we examine a previously identified Intron 1 variant (c.71+9C>A, rs200209986). Among 1672 subjects with mainly adult-onset primary dystonia, 12 harbored the variant in contrast to 1/1574 controls (P < 0.01). Dystonia classification included cervical dystonia (N = 3), laryngeal dystonia (adductor subtype, N = 3), jaw-opening oromandibular dystonia (N = 1), blepharospasm (N = 2), and unclassified (N = 3). Age of dystonia onset ranged from 25 to 69 years (mean = 54 years). In comparison to controls with no identified THAP1 sequence variants, the c.71+9C>A variant was associated with an elevated ratio of Isoform 1 (NM_018105) to Isoform 2 (NM_199003) in leukocytes. In silico and minigene analyses indicated that c.71+9C>A alters THAP1 splicing. Lymphoblastoid cells harboring the c.71+9C>A variant showed extensive apoptosis with relatively fewer cells in the G2 phase of the cell cycle. Differentially expressed genes from lymphoblastoid cells revealed that the c.71+9C>A variant exerts effects on DNA synthesis, cell growth and proliferation, cell survival, and cytotoxicity. In aggregate, these data indicate that THAP1 c.71+9C>A is a risk factor for adult-onset primary dystonia
Exposure to secondhand aerosol from electronic cigarettes at homes: A real-life study in four European countries
Electronic cigarette (e-cigarette) use emits potentially hazardous compounds and deteriorates indoor air quality. Home is a place where e-cigarettes may frequently be used amid its increasing prohibition in public places. This study assessed the real-life scenario of bystanders' exposure to secondhand e-cigarette aerosol (SHA) at home. A one-week observational study was conducted within the TackSHS project in four countries (Greece, Italy, Spain, and the United Kingdom) in 2019 including: 1) homes of e-cigarette users living together with a non-user/non-smoker; and 2) control homes with no smokers nor e-cigarette users. Indoor airborne nicotine, PM2.5, and PM1.0 concentrations were measured as environmental markers of SHA. Biomarkers, including nicotine and its metabolites, tobacco -specific nitrosamines, propanediol, glycerol, and metals were measured in participants' saliva and urine samples. E-cigarette use characteristics, such as e-cigarette refill liquid's nicotine concentration, e-cigarette type, place of e-cigarette use at home, and frequency of ventilation, were also collected. A total of 29 e-cigarette users' homes and 21 control homes were included. The results showed that the seven-day concentrations of airborne nicotine were quantifiable in 21 (72.4 %) out of 29 e-cigarette users' homes; overall, they were quite low (geometric mean: 0.01 mu g/m3; 95 % CI: 0.01-0.02 mu g/m(3)) and were all below the limit of quantification in control homes. Seven-day concentrations of PM2.5 and PM1.0 in e-cigarette and control homes were similar. Airborne nicotine and PM concentrations did not differ according to different e-cigarette use characteristics. Non-users residing with e-cigarette users had low but significantly higher levels of cotinine, 3 '-OH-cotinine and 1,2-propanediol in saliva, and cobalt in urine than non-users living in control homes. In conclusion, e-cigarette use at home created bystanders' exposure to SHA regardless of the e-cigarette use characteristics. Further studies are warranted to assess the implications of SHA exposure for smoke-free policy
The chlorine isotopic composition of the Moon: Insights from melt inclusions
The Moon exhibits a heavier chlorine (Cl) isotopic composition compared to the Earth. Several hypotheses have been put forward to explain this difference, based mostly on analyses of apatite in lunar samples complemented by bulk-rock data. The earliest hypothesis argued for Cl isotope fractionation during the degassing of anhydrous basaltic magmas on the Moon. Subsequently, other hypotheses emerged linking Cl isotope fractionation on the Moon with the degassing during the crystallization of the Lunar Magma Ocean (LMO). Currently, a variant of the LMO degassing model involving mixing between two end-member components, defined by early-formed cumulates, from which mare magmas were subsequently derived, and a KREEP component, which formed towards the end of the LMO crystallization, seems to reconcile some existing Cl isotope data on lunar samples. To further ascertain the history of Cl in the Moon and to investigate any evolution of Cl during magma crystallization and emplacement events, which could help resolve the chlorine isotopic variation between the Earth and the Moon, we analysed the Cl abundance and its isotopic composition in 36 olivine- and pyroxene-hosted melt inclusions (MI) in five Apollo basalts (10020, 12004, 12040, 14072 and 15016). Olivine-hosted MI have an average of 3.3 ± 1.4 ppm Cl. Higher Cl abundances (11.9 ppm on average) are measured for pyroxene-hosted MI, consistent with their formation at later stages in the crystallization of their parental melt compared to olivines. Chlorine isotopic composition (Ύ37) of MI in the five Apollo basalts have weighted averages of +12 ± 2.4Ⱐand +10.1 ± 3.2Ⱐfor olivine- and pyroxene-hosted MI, respectively, which are statistically indistinguishable. These isotopic compositions are also similar to those measured in apatite in these lunar basalts, with the exception of sample 14072, which is known to have a distinct petrogenetic history compared to other mare basalts. Based on our dataset, we conclude that, post-MI-entrapment, no significant Cl isotopic fractionation occurred during the crystallization and subsequent eruption of the parent magma and that Cl isotopic composition of MI and apatite primarily reflect the signature of the source region of these lunar basalts. Our findings are compatible with the hypothesis that in the majority of the cases the heavy Cl isotopic signature of the Moon was acquired during the earliest stages of LMO evolution. Interestingly, MI data from 14072 suggests that Apollo 14 lunar basalts might be an exception and may have experienced post-crystallization processes, possibly metasomatism, resulting in additional Cl isotopic fractionation recorded by apatite but not melt inclusions
High-throughput mutational analysis of TOR1A in primary dystonia
<p>Abstract</p> <p>Background</p> <p>Although the c.904_906delGAG mutation in Exon 5 of <it>TOR1A </it>typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some ÎGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify <it>TOR1A </it>Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia.</p> <p>Methods</p> <p>High resolution melting (HRM) was used to examine the entire <it>TOR1A </it>Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia) and 250 controls (150 neurologically normal and 100 with other movement disorders). Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known ÎGAG DYT1 dystonia and 88 subjects with ÎGAG-negative dystonia.</p> <p>Results</p> <p>HRM of <it>TOR1A </it>Exon 5 showed high (100%) diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the <it>TOR1A </it>ÎGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic ÎGAG deletion: 1) a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2) an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia.</p> <p>Conclusion</p> <p>First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in <it>TOR1A </it>are rarely associated with non-generalized primary dystonia.</p
Water in evolved lunar rocks: Evidence for multiple reservoirs
We have measured the abundance and isotopic composition of water in apatites from several lunar rocks representing Potassium (K), Rare Earth Elements (REE), and Phosphorus (P) â KREEP â rich lithologies, including felsites, quartz monzodiorites (QMDs), a troctolite, and an alkali anorthosite. The H-isotope data from apatite provide evidence for multiple reservoirs in the lunar interior. Apatite measurements from some KREEP-rich intrusive rocks display moderately elevated ÎŽD signatures, while other samples show ÎŽD signatures similar to the range known for the terrestrial upper mantle. Apatite grains in Apollo 15 quartz monzodiorites have the lowest ÎŽD values measured from the Moon so far (as low as â749â°), and could potentially represent a D-depleted reservoir in the lunar interior that had not been identified until now. Apatite in all of these intrusive rocks contains 6500 ppm H2O). Complexities in partitioning of volatiles into apatite make this comparison uncertain, but measurements of residual glass in KREEP basalt fragments in breccia 15358 independently show that the KREEP basaltic magmas were low in water. The source of 15358 contained âŒ10 ppm H2O, about an order of magnitude lower than the source of the Apollo 17 pyroclastic glass beads, suggesting potential variations in the distribution of water in the lunar interior
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