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- Pelletier, F., et al.
(författare)
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- 2021
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Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
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Tidskriftsartikel (refereegranskat)abstract
- Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
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- Hartmann, N., et al.
(författare)
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Attosecond time-energy structure of X-ray free-electron laser pulses
- 2018
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Ingår i: Nature Photonics. - : Springer Science and Business Media LLC. - 1749-4885 .- 1749-4893. ; 12:4, s. 215-220
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Tidskriftsartikel (refereegranskat)abstract
- The time-energy information of ultrashort X-ray free-electron laser pulses generated by the Linac Coherent Light Source is measured with attosecond resolution via angular streaking of neon 1s photoelectrons. The X-ray pulses promote electrons from the neon core level into an ionization continuum, where they are dressed with the electric field of a circularly polarized infrared laser. This induces characteristic modulations of the resulting photoelectron energy and angular distribution. From these modulations we recover the single-shot attosecond intensity structure and chirp of arbitrary X-ray pulses based on self-amplified spontaneous emission, which have eluded direct measurement so far. We characterize individual attosecond pulses, including their instantaneous frequency, and identify double pulses with well-defined delays and spectral properties, thus paving the way for X-ray pump/X-ray probe attosecond free-electron laser science. © 2018 The Author(s).
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- Morrison, C. A., et al.
(författare)
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Bird population declines and species turnover are changing the acoustic properties of spring soundscapes
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Natural sounds, and bird song in particular, play a key role in building and maintaining our connection with nature, but widespread declines in bird populations mean that the acoustic properties of natural soundscapes may be changing. Using data-driven reconstructions of soundscapes in lieu of historical recordings, here we quantify changes in soundscape characteristics at more than 200,000 sites across North America and Europe. We integrate citizen science bird monitoring data with recordings of individual species to reveal a pervasive loss of acoustic diversity and intensity of soundscapes across both continents over the past 25 years, driven by changes in species richness and abundance. These results suggest that one of the fundamental pathways through which humans engage with nature is in chronic decline, with potentially widespread implications for human health and well-being.
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- Gatherer, D., et al.
(författare)
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ICTV Virus Taxonomy Profile: Herpesviridae 2021
- 2021
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Ingår i: Journal of General Virology. - : Microbiology Society. - 0022-1317 .- 1465-2099. ; 102:10
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Forskningsöversikt (refereegranskat)abstract
- Members of the family Herpesviridae have enveloped, spherical virions with characteristic complex structures consisting of symmetrical and non-symmetrical components. The linear, double-stranded DNA genomes of 125-241 kbp contain 70-170 genes, of which 43 have been inherited from an ancestral herpesvirus. In general, herpesviruses have coevolved with and are highly adapted to their hosts, which comprise many mammalian, avian and reptilian species. Following primary infection, they are able to establish lifelong latent infection, during which there is limited viral gene expression. Severe disease is usually observed only in the foetus, the very young, the immunocompromised or following infection of an alternative host. This is a summary of the International Committee on Taxonomy of Viruses (ICTV) Report on the family Herpesviridae, which is available at ictv.global/report/herpesviridae.
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- Zsolt, Benko, et al.
(författare)
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Triassic fluid mobilization and epigenetic lead-zinc sulphide mineralization in the Transdanubian shear zone (Pannonian basin, Hungary)
- 2014
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Ingår i: Geologica Carpathica. - Geological institute of the Slovak Academy of Science. - 1335-0552 .- 1336-8052. ; 65, s. 177-194
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Tidskriftsartikel (refereegranskat)abstract
- A combined fluid inclusion, fluid inclusion plane, lead isotope and K/Ar radiometric age dating work has been carried out on two lead-zinc mineralizations situated along the Periadriatic-Balaton Lineament in the central part of the Pannonian Basin, in order to reveal their age and genetics as well as temporal-spatial relationships to other lead-zinc fluorite mineralization in the Alp-Carpathian region. According to fluid inclusion studies, the formation of the quartz fluorite-galena-sphalerite veins in the Velence Mts is the result of mixing of low (0—12 NaCl equiv. wt. %) and high salinity (10—26 CaCl2 equiv. wt. %) brines. Well-crystallized (R3-type) illite associated with the mineralized hydrothermal veins indicates that the maximum temperature of the hydrothermal fluids could have been around 250 °C. K/Ar radiometric ages of illite, separated from the hydrothermal veins provided ages of 209—232 Ma, supporting the Mid- to Late-Triassic age of the hydrothermal fluid flow. Fluid inclusion plane studies have revealed that hydrothermal circulation was regional in the granite, but more intensive around the mineralized zones. Lead isotope signatures of hydrothermal veins in the Velence Mts (206Pb/204Pb = 18.278—18.363, 207Pb/204Pb = 15.622—15.690 and 208Pb/204Pb = 38.439—38.587) and in Szabadbattyán (206Pb/204Pb = 18.286—18.348, 207Pb/204Pb = 15.667—15.736 and 208Pb/204Pb = 38.552—38.781) form a tight cluster indicating similar, upper crustal source of the lead in the two mineralizations. The nature of mineralizing fluids, age of the fluid flow, as well as lead isotopic signatures of ore minerals point towards a genetic link between epigenetic carbonate-hosted stratiform-stratabound Alpine-type lead-zinc-fluorite deposits in the Southern and Eastern Alps and the studied deposits in the Velence Mts and at Szabadbattyán. In spite of the differences in host rocks and the depth of the ore precipitation, it is suggested that the studied deposits along the Periadriatic-Balaton Lineament in the Pannonian Basin and in the Alps belong to the same regional scale fluid flow system, which developed during the advanced stage of the opening of the Neo-Tethys Ocean. The common origin and ore formation process is more evident considering results of large-scale palinspastic reconstructions. These suggest, that the studied deposits in the central part of the Pannonian Basin were located in a zone between the Eastern and Southern Alps until the Early Paleogene and were emplaced to their current location due to northeastward escape of large crustal blocks from the Alpine collision zone.
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