| 1. |
- Mishra, A, et al.
(författare)
-
Diminishing benefits of urban living for children and adolescents' growth and development
- 2023
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 615:7954, s. 874-883
-
Tidskriftsartikel (refereegranskat)abstract
- Optimal growth and development in childhood and adolescence is crucial for lifelong health and well-being1–6. Here we used data from 2,325 population-based studies, with measurements of height and weight from 71 million participants, to report the height and body-mass index (BMI) of children and adolescents aged 5–19 years on the basis of rural and urban place of residence in 200 countries and territories from 1990 to 2020. In 1990, children and adolescents residing in cities were taller than their rural counterparts in all but a few high-income countries. By 2020, the urban height advantage became smaller in most countries, and in many high-income western countries it reversed into a small urban-based disadvantage. The exception was for boys in most countries in sub-Saharan Africa and in some countries in Oceania, south Asia and the region of central Asia, Middle East and north Africa. In these countries, successive cohorts of boys from rural places either did not gain height or possibly became shorter, and hence fell further behind their urban peers. The difference between the age-standardized mean BMI of children in urban and rural areas was <1.1 kg m–2 in the vast majority of countries. Within this small range, BMI increased slightly more in cities than in rural areas, except in south Asia, sub-Saharan Africa and some countries in central and eastern Europe. Our results show that in much of the world, the growth and developmental advantages of living in cities have diminished in the twenty-first century, whereas in much of sub-Saharan Africa they have amplified.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Needham, E. J., et al.
(författare)
-
Brain injury in COVID-19 is associated with dysregulated innate and adaptive immune responses
- 2022
-
Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 145:11, s. 4097-4107
-
Tidskriftsartikel (refereegranskat)abstract
- COVID-19 is associated with neurological complications including stroke, delirium and encephalitis. Furthermore, a post-viral syndrome dominated by neuropsychiatric symptoms is common, and is seemingly unrelated to COVID-19 severity. The true frequency and underlying mechanisms of neurological injury are unknown, but exaggerated host inflammatory responses appear to be a key driver of COVID-19 severity. We investigated the dynamics of, and relationship between, serum markers of brain injury [neurofilament light (NfL), glial fibrillary acidic protein (GFAP) and total tau] and markers of dysregulated host response (autoantibody production and cytokine profiles) in 175 patients admitted with COVID-19 and 45 patients with influenza. During hospitalization, sera from patients with COVID-19 demonstrated elevations of NfL and GFAP in a severity-dependent manner, with evidence of ongoing active brain injury at follow-up 4 months later. These biomarkers were associated with elevations of pro-inflammatory cytokines and the presence of autoantibodies to a large number of different antigens. Autoantibodies were commonly seen against lung surfactant proteins but also brain proteins such as myelin associated glycoprotein. Commensurate findings were seen in the influenza cohort. A distinct process characterized by elevation of serum total tau was seen in patients at follow-up, which appeared to be independent of initial disease severity and was not associated with dysregulated immune responses unlike NfL and GFAP. These results demonstrate that brain injury is a common consequence of both COVID-19 and influenza, and is therefore likely to be a feature of severe viral infection more broadly. The brain injury occurs in the context of dysregulation of both innate and adaptive immune responses, with no single pathogenic mechanism clearly responsible. Needham et al. reveal elevations in blood biomarkers of brain injury in patients hospitalised with COVID-19. The changes, which were severity-dependent, were associated with dysregulated immune responses including increases in pro-inflammatory cytokines and autoantibodies. Ongoing active brain injury could still be seen months after infection.
|
|
| 6. |
|
|
| 7. |
- Abdusselamoglu, MD, et al.
(författare)
-
Dynamics of activating and repressive histone modifications in Drosophila neural stem cell lineages and brain tumors
- 2019
-
Ingår i: Development (Cambridge, England). - : The Company of Biologists. - 1477-9129 .- 0950-1991. ; 146:23
-
Tidskriftsartikel (refereegranskat)abstract
- During central nervous system (CNS) development, spatiotemporal gene expression programs mediate specific lineage decisions to generate neuronal and glial cell types from neural stem cells (NSCs). However, little is known about the epigenetic landscape underlying these highly complex developmental events. Here, we perform ChIP-seq on distinct subtypes of Drosophila FACS- purified neural stem cells (NSCs) and their differentiated progeny to dissect the epigenetic changes accompanying the major lineage decisions in vivo. By analyzing active and repressive histone modifications, we show that stem cell identity genes are silenced during differentiation by loss of their activating marks and not via repressive histone modifications. Our analysis also uncovers a new set of genes specifically required for altering lineage patterns in type II neuroblasts, one of the two main Drosophila NSC identities. Finally, we demonstrate that this subtype specification in NBs, unlike NSC differentiation, requires Polycomb-group (PcG)-mediated repression.
|
|
| 8. |
- Arheimer, Berit, et al.
(författare)
-
The IAHS Science for Solutions decade, with Hydrology Engaging Local People IN a Global world (HELPING)
- 2024
-
Ingår i: Hydrological Sciences Journal. - 0262-6667 .- 2150-3435.
-
Tidskriftsartikel (refereegranskat)abstract
- The new scientific decade (2023-2032) of the International Association of Hydrological Sciences (IAHS) aims at searching for sustainable solutions to undesired water conditions - may it be too little, too much or too polluted. Many of the current issues originate from global change, while solutions to problems must embrace local understanding and context. The decade will explore the current water crises by searching for actionable knowledge within three themes: global and local interactions, sustainable solutions and innovative cross-cutting methods. We capitalise on previous IAHS Scientific Decades shaping a trilogy; from Hydrological Predictions (PUB) to Change and Interdisciplinarity (Panta Rhei) to Solutions (HELPING). The vision is to solve fundamental water-related environmental and societal problems by engaging with other disciplines and local stakeholders. The decade endorses mutual learning and co-creation to progress towards UN sustainable development goals. Hence, HELPING is a vehicle for putting science in action, driven by scientists working on local hydrology in coordination with local, regional, and global processes.
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
|
|
| 12. |
- Miller, Hayley V., et al.
(författare)
-
The mirror-based eyes of scallops demonstrate a light-evoked pupillary response
- 2019
-
Ingår i: Current Biology. - : Elsevier BV. - 0960-9822. ; 29:9, s. 313-314
-
Tidskriftsartikel (refereegranskat)abstract
- Light levels in terrestrial and shallow-water environments can vary by ten orders of magnitude between clear days and overcast nights. Light-evoked pupillary responses help the eyes of animals perform optimally under these variable light conditions by balancing trade-offs between sensitivity and resolution [1]. Here, we document that the mirror-based eyes of the bay scallop Argopecten irradians and the sea scallop Placopecten magellanicus have pupils that constrict to ∼60% of their fully dilated areas within several minutes of light exposure. The eyes of scallops contain two separate retinas and our ray-tracing model indicates that, compared to eyes with fully constricted pupils, eyes from A. irradians with fully dilated pupils provide approximately three times the sensitivity and half the spatial resolution at the distal retina and five times the sensitivity and one third the spatial resolution at the proximal retina. We also identify radial and circular actin fibers associated with the corneas of A. irradians that may represent muscles whose contractions dilate and constrict the pupil, respectively. Miller et al. report that the mirror-based eyes of two species of scallop have pupils that constrict to ∼60% of their fully dilated areas within several minutes of being exposed to light. At the cost of sensitivity, narrower pupils improve spatial resolution in the eyes of scallops by decreasing the influence of optical aberrations.
|
|
| 13. |
- Nicot, A. S., et al.
(författare)
-
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
- 2007
-
Ingår i: Nat Genet. - : Springer Science and Business Media LLC. ; 39:9, s. 1134-1139
-
Tidskriftsartikel (refereegranskat)abstract
- Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. By direct sequencing of functional candidate genes, we identified homozygous mutations in amphiphysin 2 (BIN1) in three families with autosomal recessive inheritance. Two missense mutations affecting the BAR (Bin1/amphiphysin/RVS167) domain disrupt its membrane tubulation properties in transfected cells, and a partial truncation of the C-terminal SH3 domain abrogates the interaction with DNM2 and its recruitment to the membrane tubules. Our results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei.
|
|
| 14. |
- Shaikh, M G, et al.
(författare)
-
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.
- 2008
-
Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:9
-
Tidskriftsartikel (refereegranskat)abstract
- Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol kinase (GK) genes. We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy. Investigation using the androgen receptor as a marker gene identified skewed inactivation of the X chromosome. In the patient's leucocytes, the paternal X chromosome was completely inactive, but in muscle 20% of the active chromosomes were of paternal origin. Thus skewed X inactivation (deletion on the active maternal X chromosome with an inactive paternal X chromosome) is associated with AHC in a female. Variability in X inactivation between tissues may account for the pronounced salt loss and adrenal insufficiency but mild muscular dystrophy.
|
|
| 15. |
- Steinthorsdottir, Margret, et al.
(författare)
-
Cuticle surfaces of fossil plants as a potential proxy for volcanic SO2 emissions: observations from the Triassic-Jurassic transition of East Greenland
- 2018
-
Ingår i: Palaeobiodiversity and Palaeoenvironments. - Berlin : Springer. - 1867-1594 .- 1867-1608. ; 98:1, s. 49-69
-
Tidskriftsartikel (refereegranskat)abstract
- Flood basalt volcanism has been implicated in several episodes of mass extinctions and environmental degradation in the geological past, including at the Triassic–Jurassic (Tr–J) transition, through global warming caused by massive outgassing of carbon dioxide. However, the patterns of biodiversity loss observed are complicated and sometimes difficult to reconcile with the effects of global warming alone. Recently, attention has turned to additional volcanic products as potential aggravating factors, in particular sulphur dioxide (SO2). SO2 acts both directly as a noxious environmental pollutant and indirectly through forming aerosols in the atmosphere, which may cause transient global dimming and cooling. Here, we present a range of morphological changes to fossil plant leaf cuticle surfaces of hundreds of Ginkgoales and Bennettitales specimens across the Tr–J boundary of East Greenland. Our results indicate that morphological structures of distorted cuticles near the Tr–J boundary are consistent with modern cuticle SO2-caused damage and supported by recent leaf-shape SO2 proxy results, thus identifying cuticle surface morphology as a potentially powerful proxy for SO2. Recording the timing and duration of SO2 emissions in the past may help distinguish between the driving agents responsible for mass extinction events and thus improve our understanding of the Earth System.
|
|
| 16. |
- Turro, Ernest, et al.
(författare)
-
Whole-genome sequencing of patients with rare diseases in a national health system.
- 2020
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 583:7814, s. 96-102
-
Tidskriftsartikel (refereegranskat)abstract
- Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065extensively phenotypedparticipants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data ofUK Biobankparticipants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
|
|
