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| 2. |
- Anney, Richard, et al.
(författare)
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
- 2012
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:21, s. 4781-92
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Tidskriftsartikel (refereegranskat)abstract
- While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating association of individual SNPs, we also sought evidence that common variants, en masse, might affect risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest p-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. By contrast, allele-scores derived from the transmission of common alleles to Stage 1 cases significantly predict case-status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele-score results, it is reasonable to conclude that common variants affect ASD risk but their individual effects are modest.
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| 4. |
- Anthony, Lowell, et al.
(författare)
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Understanding the Patient Experience with Carcinoid Syndrome : Exit Interviews from a Randomized, Placebo-controlled Study of Telotristat Ethyl
- 2017
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Ingår i: Clinical Therapeutics. - : Elsevier. - 0149-2918 .- 1879-114X. ; 39:11, s. 2158-2168
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Telotristat ethyl, an oral tryptophan hydroxylase inhibitor, is intended to treat carcinoid syndrome by reducing serotonin production. Telotristat ethyl was evaluated in FELESTAR, a Phase HI study for patients who had carcinoid syndrome with at least 4 bowel movements (BMs) per day and who were receiving somatostatin analogue therapy. This interview sub study was conducted to provide insight into the patient experience in ILLESTAR and to help understand whether reductions in BM frequency (the primary end point) and other symptoms were clinically meaningful. Methods: Participating sites were asked to invite (before randomization) all eligible patients to telephone interviews scheduled at the end of the double-blind treatment period. Patients and interviewers were blinded to treatment. Findings: All 35 interviewed participants reported diarrhea and/or excessive BMs at baseline. Patients reported that these symptoms negatively affected emotional, social, physical, and occupational well-being. Prespecified criteria for treatment response (achieving >= 30% reduction in BM frequency for at least 50% of the days) were met by 8 of 26 patients taking telotristat ethyl and 1 of 9 patients taking placebo. All 8 patients taking telotristat ethyl described clinically meaningful reductions in BM frequency and were very satisfied with the ability of the study drug to control their carcinoidsyndrome symptoms. Overall, reports of being very satisfied were observed in 12 patients taking telotristat ethyl and 0 taking placebo. Implications: Patient interviews revealed that I ELESTAR patients, at baseline, were significantly affected by their high BM frequency. Patient reports of their clinical trial experience supported the significance of the primary end point and clinical responder analysis in TELESTAR, helping identify and understand clinically meaningful change produced by telotristat ethyl. (C) 2017 The Authors. Published by Elsevier HS Journals, Inc.
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| 5. |
- Beal, Jacob, et al.
(författare)
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Robust estimation of bacterial cell count from optical density
- 2020
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Ingår i: Communications Biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data.
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| 6. |
- Bergman, Åke, et al.
(författare)
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A novel abbreviation standard for organobromine, organochlorine and organophosphorus flame retardants and some characteristics of the chemicals
- 2012
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Ingår i: Environment International. - : Elsevier BV. - 0160-4120 .- 1873-6750. ; 49, s. 57-82
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Forskningsöversikt (refereegranskat)abstract
- Ever since the interest in organic environmental contaminants first emerged 50 years ago, there has been a need to present discussion of such chemicals and their transformation products using simple abbreviations so as to avoid the repetitive use of long chemical names. As the number of chemicals of concern has increased, the number of abbreviations has also increased dramatically, sometimes resulting in the use of different abbreviations for the same chemical. In this article, we propose abbreviations for flame retardants (FRs) substituted with bromine or chlorine atoms or including a functional group containing phosphorus, i.e. BFRs, CFRs and PFRs, respectively. Due to the large number of halogenated and organophosphorus FRs, it has become increasingly important to develop a strategy for abbreviating the chemical names of FRs. In this paper, a two step procedure is proposed for deriving practical abbreviations (PRABs) for the chemicals discussed. In the first step, structural abbreviations (STABs) are developed using specific STAB criteria based on the FR structure. However, since several of the derived STABs are complicated and long, we propose instead the use of PRABs. These are, commonly, an extract of the most essential part of the STAB, while also considering abbreviations previously used in the literature. We indicate how these can be used to develop an abbreviation that can be generally accepted by scientists and other professionals involved in FR related work. Tables with PRABs and STABs for BFRs, CFRs and PERs are presented, including CAS (Chemical Abstract Service) numbers, notes of abbreviations that have been used previously, CA (Chemical Abstract) name, common names and trade names, as well as some fundamental physicochemical constants.
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| 7. |
- Scott, Eleanor M., et al.
(författare)
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Continuous Glucose Monitoring Metrics and Birth Weight : Informing Management of Type 1 Diabetes Throughout Pregnancy
- 2022
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Ingår i: Diabetes Care. - : American Diabetes Association. - 0149-5992. ; 45:8, s. 1724-1734
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE To determine gestational weekly changes in continuous glucose monitoring (CGM) metrics and 24-h glucose profiles and their relationship to infant birth weight in pregnant women with type 1 diabetes. RESEARCH DESIGN AND METHODS An analysis of >10.5 million CGM glucose measures from 386 pregnant women with type 1 diabetes from two international multicenter studies was performed. CGM glucose metrics and 24-h glucose profiles were calculated for each gestational week, and the relationship to normal (10–90th percentile) and large (>90th percentile) for gestational age (LGA) birth weight infants was determined. RESULTS Mean CGM glucose concentration fell and percentage of time spent in the pregnancy target range of 3.5–7.8 mmol/L (63–140 mg/dL) increased in the first 10 weeks of pregnancy and plateaued until 28 weeks of gestation, before further improvement in mean glucose and percentage of time in range until delivery. Maternal CGM glucose metrics diverged at 10 weeks of gestation, with significantly lower mean CGM glucose concentration (7.1 mmol/L; 95% CI 7.05–7.15 [127.8 mg/dL; 95% CI 126.9–128.7] vs. 7.5 mmol/L; 95% CI 7.45–7.55 [135 mg/dL; 95% CI 134.1–135.9]) and higher percentage of time in range (55%; 95% CI 54–56 vs. 50%; 95% CI 49–51) in women who had normal versus LGA. The 24-h glucose profiles were significantly higher across the day from 10 weeks of gestation in LGA. CONCLUSIONS Normalbirthweightisassociatedwithachievingsignificantly lower mean CGM glucose concentration across the 24-h day and higher CGM time in range from before the end of the first trimester, emphasizing the need for a shift in clinical management, with increased focus on using weekly CGM glucose targets for optimizing maternal glycemia from early pregnancy.
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| 9. |
- Wright, Linda, et al.
(författare)
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Patellar ligament desmopathy in the horse – a review and comparison to human patellar tendinopathy (‘Jumper’s knee’)
- 2023
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Ingår i: Comparative Exercise Physiology. - 1755-2540 .- 1755-2559. ; 19, s. 27-39
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Forskningsöversikt (refereegranskat)abstract
- Patellar ligament desmopathy in horses is regarded as an uncommon condition with unclear aetiology. Of the three patellar ligaments in the horse, the intermediate is the one most often diagnosed with desmopathy in horses presenting with chronic lameness. This structure corresponds to the patellar tendon in humans. As diagnostic imaging modalities continuously improve, changes in echogenicity of the patellar ligaments are identified ultrasonographically with increasing frequency. However, disruption of the normal fibre pattern may be present also in patellar ligaments in horses that show no signs of lameness. Similarly, there is a poor correlation between pain and diagnostic imaging findings in human patellar tendinopathy. Consequently, there appears to be a knowledge gap pertaining to normal ultrasonographic variation and diagnostic criteria for disease of the patellar ligaments in horses. Furthermore, local anaesthetic techniques to verify the diagnosis are poorly described, and due to the low number of treated cases, no specific treatment modality can be recommended on a scientific basis. The aim of this paper is to review the current knowledge regarding the pathogenesis, diagnosis and management of patellar ligament desmopathy in horses, compare this condition with patellar tendinopathy in humans, and identify areas for further research to increase the diagnostic accuracy in horses. We conclude that there is a profound need for better descriptions of ultrasonographic variation and pathological changes of the equine patellar ligaments. Identification of areas of maximal ligament strain and descriptions of early histopathological changes could render more information on the possible aetiology, preventive measurements and treatment options of desmopathy. Description of regional innervation could aid in development of methods for diagnostic anaesthesia to verify pain originating from the ligaments.
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