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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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| 4. |
- 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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| 5. |
- Cruz, G. A. S., et al.
(författare)
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Molecular phylogeny, character evolution and historical biogeography of Cryptanthus Otto & A. Dietr. (Bromeliaceae)
- 2017
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Ingår i: Molecular Phylogenetics and Evolution. - : Elsevier BV. - 1055-7903 .- 1095-9513. ; 107, s. 152-165
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Tidskriftsartikel (refereegranskat)abstract
- Cryptanthus comprises 72 species endemic to eastern Brazil with a center of diversity in the Atlantic Forest. The majority of the species are threatened due to habitat loss. We reconstructed phylogenetic relationships in Cryptanthus based on amplified fragment length polymorphisms (AFLP) including 48 species and 109 accessions. The Bayesian phylogenetic analysis revealed four major lineages in Cryptanthus and provided further evidence for the paraphyly of subgen. Hoplocryptanthus, while subgenus Cryptanthus was resolved as monophyletic. Monophyly of previously recognized morphological species groups at sectional level could not be confirmed. Based on the phylogenetic reconstruction we inferred the evolution of the sex system in Cryptanthus via maximum likelihood (ML) ancestral character reconstruction. Homoecy, the possession of hermaphrodite flowers only, was reconstructed as the ancestral state in the genus and characterizes three of the four main lineages within Cryptanthus. Andromonoecy, the possession of male and hermaphrodite flowers on the same plant, evolved only once and represents a synapomorphy of the fourth main lineage, C. subgen. Cryptanthus. The ancestral biome analysis reconstructed Cerrado (semiarid scrublands and forests) and campos rupestres (rock fields) as the most likely ancestral biomes for the genus. A shift to the Atlantic Forest biome was reconstructed to have occurred twice, in the ancestor of the first diverging lineage within the genus and in the ancestor of the C. subgen. Cryptanthus clade. A shift to the Caatinga (tropical dryland savanna) and one reversal to Cerrado (campos rupestres - rock fields) was reconstructed to have occurred once, in C. bahianus and C. arelii, respectively. The ancestral biome reconstruction indicates a high degree of niche conservatism within Cryptanthus with rare biome shifts throughout the evolution of the genus. Further, our results imply that the current infrageneric taxonomy of Cryptanthus is problematic and requires revision. © 2016 Elsevier Inc.
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| 6. |
- 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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| 7. |
- Dumbovic, M., et al.
(författare)
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A new method of measuring Forbush decreases
- 2024
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 683
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Tidskriftsartikel (refereegranskat)abstract
- Context: Forbush decreases (FDs) are short-term depressions in the galactic cosmic ray (GCR) flux and one of the common signatures of coronal mass ejections (CMEs) in the heliosphere. They often show a two-step profile, the second one associated with the CME's magnetic structure. This second step can be described by the recently developed analytical FD model for flux ropes (FRs) - ForbMod.Aims: The aim of this study is to utilise ForbMod to develop a best-fit procedure to be applied on FR-related FDs as a convenient measurement tool. Our motivation is to develop a best-fit procedure that can be applied to a data series from an arbitrary detector. Thus, the basic procedure would facilitate measurement estimation of the magnitude of the FR-related FD, with the possibility of being adapted for the energy response of a specific detector for a more advanced analysis.Methods: The non-linear fitting was performed by calculating all possible ForbMod curves constrained within the FR borders to the designated dataset and minimising the mean square error (MSE). In order to evaluate the performance of the ForbMod best-fit procedure, we used synthetic measurements produced by calculating the theoretical ForbMod curve for a specific example CME and then applying various effects to the data to mimic the imperfection of the real measurements. We also tested the ForbMod best-fit function on the real data, measured by detector F of the SOHO/EPHIN instrument on a sample containing 30 events, all of which have a distinct FD corresponding to the magnetic obstacle. The extraction of FD profiles (from the onset to the end) was performed manually by an observer, whereby we applied two different versions of border selection and assigned a quality index to each event.Results: We do not find notable differences between events marked by a different quality index. For events with a selection of two different borders, we find that the best fit applied on extended interplanetary coronal mass ejection (ICME) structure borders results in a slightly larger MSE and differences compared to the traditional method due to a larger scatter of the data points. We find that the best-fit results can visually be categorised into six different FD profile types. Although some profiles do not show a visually pleasing FD, the ForbMod best-fit function still manages to find a solution with a relatively small MSE.Conclusions: Overall, we find that the ForbMod best-fit procedure performs similar to the traditional algorithm-based observational method, but with slightly smaller values for the FD amplitude, as it's taking into account the noise in the data. Furthermore, we find that the best-fit procedure has an advantage compared to the traditional method as it can estimate the FD amplitude even when there is a data gap at the onset of the FD.
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| 9. |
- Kallioinen, J, et al.
(författare)
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Photoinduced ultrafast dynamics of Ru(dcbpy)(2)(NCS)(2)-sensitized nanocrystalline TiO2 films: The influence of sample preparation and experimental conditions
- 2004
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Ingår i: The Journal of Physical Chemistry Part B. - : American Chemical Society (ACS). - 1520-5207 .- 1520-6106. ; 108:20, s. 6365-6373
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Tidskriftsartikel (refereegranskat)abstract
- In most of the previous ultrafast electron injection studies of Ru(dcbpy)(2)(NCS)(2)-sensitized nanocrystalline TiO2 films, experimental conditions and sample preparation have been different from study to study and no studies of how the differences affect the observed dynamics have been reported. In the present paper, we have investigated the influence of such modifications. Pump photon density, environment of the sensitized film (solvent and air), and parameters of the film preparation (crystallinity and quality of the film) were varied in a systematic way and the obtained dynamics were compared to that of a well-defined reference sample: Ru(dcbpy)(2)(NCS)(2)-TiO2 in acetonitrile. In some cases, the induced changes in the dynamics were uncorrelated to the electron injection process. High pump photon density (not in the linear response region) and exposure of the sensitized film to air altered the picosecond-time- scale kinetics considerably, and the changes were attributed mostly to degradation of the dye. In other cases, changes in the measured kinetics were related to the electron injection processes: reducing the firing temperature of the nanocrystalline film or making the film via electron beam evaporation (EBE) resulted in a decrease of the overall crystallinity of the film, and the electron injection slowed. In the sensitized EBE films, in addition to an increased contribution of triplet excited-state electron injection, a new electron transfer (ET) process with a time constant of 200 fs was observed.
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| 10. |
- 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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