| 1. |
- Lowden, Arne, 1957-, et al.
(författare)
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Delayed Sleep in Winter Related to Natural Daylight Exposure among Arctic Day Workers
- 2018
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Ingår i: Clocks & Sleep. - : MDPI AG. - 2624-5175. ; 1:1, s. 105-116
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Tidskriftsartikel (refereegranskat)abstract
- Natural daylight exposures in arctic regions vary substantially across seasons. Negative consequences have been observed in self-reports of sleep and daytime functions during the winter but have rarely been studied in detail. The focus of the present study set out to investigate sleep seasonality among indoor workers using objective and subjective measures. Sleep seasonality among daytime office workers (n = 32) in Kiruna (Sweden, 67.86° N, 20.23° E) was studied by comparing the same group of workers in a winter and summer week, including work and days off at the weekend, using actigraphs (motion loggers) and subjective ratings of alertness and mood. Actigraph analyses showed delayed sleep onset of 39 min in winter compared to the corresponding summer week (p < 0.0001) and shorter weekly sleep duration by 12 min (p = 0.0154). A delay of mid-sleep was present in winter at workdays (25 min, p < 0.0001) and more strongly delayed during days off (46 min, p < 0.0001). Sleepiness levels were higher in winter compared to summer (p < 0.05). Increased morning light exposure was associated with earlier mid-sleep (p < 0.001), while increased evening light exposure was associated with delay (p < 0.01). This study confirms earlier work that suggests that lack of natural daylight delays the sleep/wake cycle in a group of indoor workers, despite having access to electric lighting. Photic stimuli resulted in a general advanced sleep/wake rhythm during summer and increased alertness levels.
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| 2. |
- Ozantürk, Ayşegül, et al.
(författare)
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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
- 2015
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Ingår i: International Journal of Human Genetics. - New York, USA : Nature Publishing Group. - 0972-3757 .- 1434-5161 .- 1435-232X. ; 60:1, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.
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