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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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- Mishra, A, et al.
(författare)
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Diminishing benefits of urban living for children and adolescents' growth and development
- 2023
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 615:7954, s. 874-883
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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.
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- Zhang, F, et al.
(författare)
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Evaluating children with vestibular migraine through vestibular test battery: A cross-sectional investigation
- 2022
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Ingår i: Frontiers in neurology. - : Frontiers Media SA. - 1664-2295. ; 13, s. 997217-
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Tidskriftsartikel (refereegranskat)abstract
- The present study aimed to investigate the status of vestibular function in children with vestibular migraine of childhood (VMC) reflected by vestibular function test battery and explore the pathophysiological implication of these instrument-based findings.MethodsThe clinical data of 22 children (mean age 10.7 ± 2.9 years) with VMC who met the diagnostic criteria of the Barany Society were collected from September 2021 to March 2022. A vestibular function test battery on these children included a caloric test, video head impulse test (vHIT), cervical vestibular-evoked myogenic potential (cVEMP), and ocular vestibular-evoked myogenic potential (oVEMP); these parameters were triggered by air-conducted sound (ACS) and galvanic vestibular stimulation (GVS). The subjects were further divided into two groups: <3 months and >3 months according to the disease duration from symptom onset. The functional abnormalities and their characteristics reflected by the vestibular test battery, as well as the outcomes in children with or without aura, were analyzed.Results(1) The abnormal rate of the caloric test was 15.8% and that of vHIT was 0%. The response rates of ACS-cVEMP and ACS-oVEMP were 100% and 90.5%, respectively. The response rates of GVS-cVEMP and GVS-oVEMP were 100% and 88.9%, respectively. (2) No statistical difference was observed in the abnormal rate of the caloric test (P = 0.55) and the response rate of ACS-oVEMP (P = 0.21) between the two groups, irrespective of the course duration. (3) No statistical difference was detected in the abnormal rate of the caloric test (P = 0.53) and the response rate of ACS-oVEMP (P = 1.00) in children with or without aura.ConclusionVestibular function status comprehensively reported by the vestibular test battery did not show an aggravation with the disease duration in children with VMC. Also, it was not affected by the existence of aura in children with VMC. The high abnormal rates of the caloric test and oVEMPs (ACS-oVEMP and GVS-oVEMP) suggested that the lateral semicircular canal (low-frequency function component), the utricle, and the superior vestibular conduction pathway might be involved in VMC.
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