| 1. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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| 4. |
- Chien, Yin-Hsiu, et al.
(author)
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Mudd's disease (MAT I/III deficiency) : a survey of data for MAT1A homozygotes and compound heterozygotes
- 2015
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In: Orphanet Journal of Rare Diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 10
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Journal article (peer-reviewed)abstract
- Background: This paper summarizes the results of a group effort to bring together the worldwide available data on patients who are either homozygotes or compound heterozygotes for mutations in MAT1A. MAT1A encodes the subunit that forms two methionine adenosyltransferase isoenzymes, tetrameric MAT I and dimeric MAT III, that catalyze the conversion of methionine and ATP to S-adenosylmethionine (AdoMet). Subnormal MAT I/III activity leads to hypermethioninemia. Individuals, with hypermethioninemia due to one of the MAT1A mutations that in heterozygotes cause relatively mild and clinically benign hypermethioninemia are currently often being flagged in screening programs measuring methionine elevation to identify newborns with defective cystathionine beta-synthase activity. Homozygotes or compound heterozygotes for MAT1A mutations are less frequent. Some but not all, such individuals have manifested demyelination or other CNS abnormalities. Purpose of the study: The goals of the present effort have been to determine the frequency of such abnormalities, to find how best to predict whether they will occur, and to evaluate the outcomes of the variety of treatment regimens that have been used. Data have been gathered for 64 patients, of whom 32 have some evidence of CNS abnormalities (based mainly on MRI findings), and 32 do not have such evidence. Results and Discussion: The results show that mean plasma methionine concentrations provide the best indication of the group into which a given patient will fall: those with means of 800 mu M or higher usually have evidence of CNS abnormalities, whereas those with lower means usually do not. Data are reported for individual patients for MAT1A genotypes, plasma methionine, total homocysteine (tHcy), and AdoMet concentrations, liver function studies, results of 15 pregnancies, and the outcomes of dietary methionine restriction and/or AdoMet supplementation. Possible pathophysiological mechanisms that might contribute to CNS damage are discussed, and tentative suggestions are put forth as to optimal management.
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| 5. |
- Danielsson, Nanette S., 1967-, et al.
(author)
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Sleep Disturbance and Depressive Symptoms in Adolescence : The Role of Catastrophic Worry
- 2013
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In: Journal of Youth and Adolescence. - : Springer Science and Business Media LLC. - 0047-2891 .- 1573-6601. ; 42:8, s. 1223-1233
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Journal article (peer-reviewed)abstract
- Depression is a common and debilitating disorder in adolescence. Sleep disturbances and depression often co-occur with sleep disturbances frequently preceding depression. The current study investigated whether catastrophic worry, a potential cognitive vulnerability, mediates the relationship between adolescent sleep disturbances and depressive symptoms, as well as whether there are gender differences in this relationship. High school students, ages 16-18, n = 1,760, 49 % girls, completed annual health surveys including reports of sleep disturbance, catastrophic worry, and depressive symptoms. Sleep disturbances predicted depressive symptoms 1-year later. Catastrophic worry partially mediated the relationship. Girls reported more sleep disturbances, depressive symptoms, and catastrophic worry relative to boys. The results, however, were similar regardless of gender. Sleep disturbances and catastrophic worry may provide school nurses, psychologists, teachers, and parents with non-gender specific early indicators of risk for depression. Several potentially important practical implications, including suggestions for intervention and prevention programs, are highlighted.
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| 6. |
- Docherty, Anna R, et al.
(author)
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GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
- 2023
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In: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 180:10, s. 723-738
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Journal article (peer-reviewed)abstract
- Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures.This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses.Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values <5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors.This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.
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| 7. |
- Hollestelle, Antoinette, et al.
(author)
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- 2016
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In: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
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Journal article (peer-reviewed)abstract
- Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
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| 8. |
- Hysing, Mari, et al.
(author)
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Sleep and academic performance in later adolescence : results from a large population-based study
- 2016
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In: Journal of Sleep Research. - : Wiley-Blackwell Publishing Inc.. - 0962-1105 .- 1365-2869. ; 25:3, s. 318-324
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Journal article (peer-reviewed)abstract
- The aim of the current study was to assess the association between sleep duration and sleep patterns and academic performance in 16-19 year-old adolescents using registry-based academic grades. A large population-based study from Norway conducted in 2012, the youth@hordaland-survey, surveyed 7798 adolescents aged 16-19 years (53.5% girls). The survey was linked with objective outcome data on school performance. Self-reported sleep measures provided information on sleep duration, sleep efficiency, sleep deficit and bedtime differences between weekday and weekend. School performance [grade point average (GPA)] was obtained from official administrative registries. Most sleep parameters were associated with increased risk for poor school performance. After adjusting for sociodemographic information, short sleep duration and sleep deficit were the sleep measures with the highest odds of poor GPA (lowest quartile). Weekday bedtime was associated significantly with GPA, with adolescents going to bed between 22:00 and 23:00 hours having the best GPA. Also, delayed sleep schedule during weekends was associated with poor academic performance. The associations were somewhat reduced after additional adjustment for non-attendance at school, but remained significant in the fully adjusted models. In conclusion, the demonstrated relationship between sleep problems and poor academic performance suggests that careful assessment of sleep is warranted when adolescents are underperforming at school. Future studies are needed on the association between impaired sleep in adolescence and later functioning in adulthood.
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| 9. |
- Jansson-Fröjmark, Markus, 1971-, et al.
(author)
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Associations between psychological factors and night-time/daytime symptomatology in insomnia
- 2012
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In: Journal of Sleep Research. - : Wiley-Blackwell. - 0962-1105 .- 1365-2869. ; 21:Suppl. 1, s. 168-169
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Journal article (peer-reviewed)abstract
- Objectives: Cognitive models of insomnia underscore cognitive mechanisms as important in the maintenance of insomnia. The aim of this study was to examine psychological factors in insomnia and the association between psychological mechanisms with night-time and daytime symptoms.Methods: In a cross-sectional examination, participants (n = 2327) from a randomly selected sample of the general population completed a survey on demographic parameters, night-time symptoms, daytime impairment, health outcomes, and psychological factors intended to index five cognitive processes (Harvey, 2002). Excluding those with a sleep disorder other than insomnia, the study sample consisted of 1890 participants. Results: Relative to poor and normal sleepers, the insomnia group scored higher on worry, beliefs, physiologic arousal, monitoring/attentional bias, and safety behaviours relative to the other two groups, and the poor sleepers exhibited a similar pattern relative to the normal sleepers. High total wake time was associated with more worry, physiologic arousal, and safety behaviours (26.3% variance), low sleep restoration with more worry, unhelpful beliefs, and monitoring/attentional bias (28.2% variance), and low sleep quality with higher scores on all the psychological mechanisms (35.8% variance). Elevated daytime symptoms were related to more unhelpful beliefs and monitoring/attentional bias (44.3% variance).Conclusion: The findings show that psychological factors discriminate those with insomnia from those with poor or normal sleep. The results also indicate that psychological factors are linked to insomnia-specific night-time and daytime symptomatology.
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| 10. |
- Jansson-Fröjmark, Markus, et al.
(author)
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Associations between psychological factors and nighttime/daytime symptomatology in insomnia
- 2012
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In: Cognitive Behaviour Therapy. - : Informa UK Limited. - 1650-6073 .- 1651-2316. ; 41:4, s. 273-287
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Journal article (peer-reviewed)abstract
- Purpose: The aim of this study was to examine psychological factors in insomnia and the association between psychological mechanisms and nighttime and daytime symptoms.Methods: A cross-sectional examination in the general population was used. The study sample consisted of 1890 participants from the general population. The participants completed a survey on nighttime and daytime symptoms, health outcomes, and psychological factors.Results: Relative to poor and normal sleepers, the insomnia group had higher scores on worry, beliefs, physiologic arousal, monitoring/attentional bias, and safety behaviors than the other two groups, and the poor sleepers exhibited a similar pattern relative to the normal sleepers. High total wake time was associated with more worry, physiologic arousal, and safety behaviors (26.3% variance), low sleep restoration with more worry, unhelpful beliefs, and monitoring/attentional bias (28.2% variance), and low sleep quality with higher scores on all the psychological mechanisms (35.8% variance). Elevated daytime symptoms were related to more unhelpful beliefs and monitoring/attentional bias (44.3% variance).Conclusion: The findings indicate that psychological factors are linked to nighttime and daytime symptomatology in insomnia.
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