| 1. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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| 2. |
- Assimes, Themistocles L., et al.
(author)
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Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
- 2010
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In: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 56:19, s. 1552-1563
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Journal article (peer-reviewed)abstract
- Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
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| 3. |
- Brownstein, Catherine A., et al.
(author)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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In: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Journal article (peer-reviewed)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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| 4. |
- Brännström, Jonas, et al.
(author)
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Children's Subjective Ratings and Opinions of Typical and Dysphonic Voice After Performing a Language Comprehension Task in Background Noise.
- 2015
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In: Journal of Voice. - : Elsevier BV. - 1873-4588 .- 0892-1997. ; 29:5, s. 624-630
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Journal article (peer-reviewed)abstract
- Objective Previous studies suggest that dysphonic voices are perceived more negatively than typical voices, and it is possible that vocal perception influences academic achievement and comprehension. This study assessed children's subjective ratings and opinions of a typical and dysphonic voice after performing a language comprehension task in background noise. It also explored if subjective ratings were related to performance in the comprehension task. Study Design Ninety-three 8-year-old children participated and were randomly allocated to two groups. Methods A digital version of the Test for Reception of Grammar, version 2 (TROG-2) was used. In TROG-2, the child listens to a sentence and then, out of four possible pictures, selects the picture that corresponds to the sentence content. Each sentence assesses a specific grammatical construction. Test instructions were recorded using one speaker with two different voice qualities (typical voice and provoked dysphonic voice). One group of children performed TROG-2 with the typical voice and the other with the dysphonic voice, both presented in a multitalker babble noise using earphones. All children rated their subjective perception of the voice. Results The dysphonic voice received poorer ratings than the typical voice. Children making more positive ratings of the voice performed better on earlier blocks in TROG-2, but only in the typical voice group. Conclusions Children perceived the dysphonic voice more negatively even when listening to the same speaker. Performance is related to the perception of the voice, but only when the perceptual load of the task-relevant stimuli is sufficiently low.
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| 5. |
- Brännström, Jonas, et al.
(author)
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Occupational stress among Swedish audiologists in clinical practice : Reasons for being stressed
- 2016
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In: International Journal of Audiology. - : Informa UK Limited. - 1499-2027 .- 1708-8186. ; 55:8, s. 447-453
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Journal article (peer-reviewed)abstract
- Objective: The present study reports on the application of a Swedish translation of the audiologist occupational stress questionnaire (AOSQ) on audiologists working in Sweden. The relations between AOSQ scores and perceived effort, perceived rewards, coping strategies at work, demographic variables such as salary, education length, practise length, and practice type were tested. Design: A cross-sectional e-mail survey using the AOSQ, effort-reward imbalance questionnaire, and demographic questions. Study sample: Four-hundred and four Swedish licensed audiologists working with clients. Results: The Swedish AOSQ translation demonstrated high inter-item correlations and high internal consistency. Several stress factors were identified: time spent at work, accountability, leadership at the workplace, paperwork and practice demands, equipment and clinical protocols, own health concerns, and job control. The outcome on the complete AOSQ questionnaire was related to perceived effort, perceived rewards, coping strategies at work, and age. Conclusions: The Swedish AOSQ translation seems to provide a valid measure of occupational stress among audiologists.
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| 6. |
- Brännström, Jonas, et al.
(author)
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Should the acceptable noise level be considered to be an acceptable noise range?
- 2013
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In: The Journal of the Acoustical Society of America. - : Acoustical Society of America (ASA). - 1520-8524 .- 0001-4966. ; 134:5
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Journal article (peer-reviewed)abstract
- The acceptable noise level (ANL) test is used to quantify the amount of competing background noise (BNL) that a listener is willing to accept when listening to speech at the most comfortable level (MCL). ANL is calculated by subtracting the BNL from the MCL. Most studies show large intersubject ANL variability and a few also demonstrate large intrasubject variability. Very few predictor variables for ANL have been identified and it has been proposed that the ANL depends on an inherent characteristic of the listener. However, some of the variability seems to depend on poor precision of the ANL test. After removing the effect of poor precision, some variability still remains. One possible explanation for these findings may be that the ANL is not a single level but a range of levels. Using recent data, this presentation examines the notion of an acceptable noise range.
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| 7. |
- Brännström, Jonas, et al.
(author)
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The acceptable noise level: The effect of repeated measurements.
- 2014
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In: International Journal of Audiology. - : Informa UK Limited. - 1708-8186 .- 1499-2027. ; 53:1, s. 21-29
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Journal article (peer-reviewed)abstract
- Objective: This study explores if increasing number of repetitions might improve the precision of the acceptable noise level (ANL) test. Design: We measured twelve ANL repetitions, i.e. four complete ANL tests (4 × 3 repetitions), at one session using diotic presentation and a non-semantic ANL version. Study sample: Thirty-two normal-hearing adults. Results: Small order and fatigue effects were seen. We used the coefficient of repeatability (CR) to assess the repeatability; CRs ranged between 3.9 and 7.6 dB for the four ANL tests. Using the twelve ANL repetitions we removed the variability of the ANL across subjects by normalizing the data to the individual mean ANL for the twelve repetitions. The mean normalized ANL across the subjects rapidly approached the ANL normalized to the individual mean for the 12 repetitions (0 dB), and after three repetitions the SD seemed to be stable at about 3 dB. Conclusions: The findings suggest that both order and fatigue affect the ANL. The findings also suggest that it may be more accurate to speak of an acceptable noise range than ANL. These findings have large implications for how we understand acceptable noise and it would explain a large part of the variability seen among normal-hearing and perhaps hearing-impaired subjects.
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| 8. |
- Brännström, Jonas, et al.
(author)
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The effect of repeated measurements and working memory on the most comfortable level in the ANL test.
- 2014
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In: International Journal of Audiology. - : Informa UK Limited. - 1708-8186 .- 1499-2027. ; 53:11, s. 787-795
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Journal article (peer-reviewed)abstract
- Objective: To study the effect of a large number of repetitions on the most comfortable level (MCL) when doing the acceptable noise level (ANL) test, and explore if MCL variability is related to central cognitive processes. Design: Twelve MCL repetitions were measured within the ANL test using interleaved methodology during one session using a non-semantic version. Phonological (PWM) and visuospatial working memory (VSWM) was measured. Study sample: Thirty-two normal-hearing adults. Results: Repeated measures ANOVA, intraclass correlations, and the coefficient of repeatability (CR) were used to assess the repeatability. Repeated measures ANOVA and CR indicated poor agreement between the two first repetitions. After excluding the first repetition, analyses showed that the MCL in the ANL test is reliable. A negative association was found between PWM and MCL variability indicating that subjects with higher PWM show less variability. Conclusions: The findings suggest that, after excluding the first repetition, the MCL in the ANL test is reliable. A single repetition of the MCL in the ANL test should be avoided. If an interleaved methodology is used, a single ANL repetition should be added prior to the actual testing. The findings also suggest that MCL variability is associated to PWM but not VSWM.
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| 9. |
- Fernandez, Celine, et al.
(author)
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Disturbed cholesterol homeostasis in hormone-sensitive lipase-null mice.
- 2008
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In: American journal of physiology. Endocrinology and metabolism. - : American Physiological Society. - 0193-1849 .- 1522-1555. ; 295:4
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Journal article (peer-reviewed)abstract
- Transcriptomics analysis revealed that genes involved in hepatic de novo cholesterol synthesis were downregulated in fed HSL-null mice that had been on a high-fat diet (HFD) for 6 mo. This finding prompted a further analysis of cholesterol metabolism in HSL-null mice, which was performed in fed and 16-h-fasted mice on a normal chow diet (ND) or HFD regimen. Plasma cholesterol was elevated in HSL-null mice, in all tested conditions, as a result of cholesterol enrichment of HDL and VLDL. Hepatic esterified cholesterol content and ATP-binding cassette transporter A1 (ABCA1) mRNA and protein levels were increased in HSL-null mice regardless of the dietary regimen. Unsaturated fatty acid composition of hepatic triglycerides was modified in fasted HSL-null mice on ND and HFD. The increased ABCA1 expression had no major effect on cholesterol efflux from HSL-null mouse hepatocytes. Taken together, the results of this study suggest that HSL plays a critical role in the hydrolysis of cytosolic cholesteryl esters and that increased levels of hepatic cholesteryl esters, due to lack of action of HSL in the liver, are the main mechanism underlying the imbalance in cholesterol metabolism in HSL-null mice.
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| 10. |
- Fex, Malin, et al.
(author)
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{beta}-Cell Lipases and Insulin Secretion.
- 2006
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In: Diabetes. - 1939-327X. ; 55:Suppl 2, s. 24-31
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Journal article (peer-reviewed)abstract
- Lipids have been implicated in ß-cell stimulus-secretion coupling. Thus, lipases in ß-cells would be required to generate coupling factors from intracellular lipids. Indeed, we found that glucose stimulates lipolysis in rodent islets and clonal ß-cells. Lipolysis and diglyceride lipase activity in islets are abolished by orlistat, a pan-lipase inhibitor. Moreover, orlistat dose-dependently inhibits glucose- and forskolin-stimulated insulin secretion, while leaving glucose oxidation and the rise in ATP-to-ADP ratio intact. In an effort to identify ß-cell lipase(s), we found that hormone-sensitive lipase (HSL), the rate-limiting enzyme for acylglyceride hydrolysis in adipocytes, is active in rodent ß-cells. To further address the role of HSL, a global and ß-cell–specific inactivation, respectively, of the lipase has been created in mice. Whereas our line of HSL null mice is moderately glucose intolerant due to reduced peripheral insulin sensitivity, it exhibits normal islet metabolism and insulin secretion. Preliminary analysis of the ß-cell–specific HSL knockout has revealed no evidence for disturbed islet function. Thus, studies of ours and others indicate that there is a complex lipid regulatory component in ß-cell stimulus-secretion coupling. The role of HSL and other lipases needs to be further clarified to provide a balanced view of the role of lipids and lipolysis in ß-cells.
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