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- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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- Kanai, M, et al.
(author)
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- 2023
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swepub:Mat__t
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- Mishra, A, et al.
(author)
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Diminishing benefits of urban living for children and adolescents' growth and development
- 2023
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 615:7954, s. 874-883
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Journal article (peer-reviewed)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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- Thoma, B, et al.
(author)
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An international, interprofessional investigation of the self-reported podcast listening habits of emergency clinicians: A METRIQ Study
- 2020
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In: CJEM. - : Springer Science and Business Media LLC. - 1481-8043 .- 1481-8035. ; 22:1, s. 112-117
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Journal article (peer-reviewed)abstract
- ObjectivesPodcasts are increasingly being used for medical education. A deeper understanding of usage patterns would inform both producers and researchers of medical podcasts. We aimed to determine how and why podcasts are used by emergency medicine and critical care clinicians.MethodsAn international interprofessional sample (medical students, residents, physicians, nurses, physician assistants, and paramedics) was recruited through direct contact and a multimodal social media (Twitter and Facebook) campaign. Each participant completed a survey outlining how and why they utilize medical podcasts. Recruitment materials included an infographic and study website.Results390 participants from 33 countries and 4 professions (medicine, nursing, paramedicine, physician assistant) completed the survey. Participants most frequently listened to medical podcasts to review new literature (75.8%), learn core material (75.1%), and refresh memory (71.8%). The majority (62.6%) were aware of the ability to listen at increased speeds, but most (76.9%) listened at 1.0 x (normal) speed. All but 25 (6.4%) participants concurrently performed other tasks while listening. Driving (72.3%), exercising (39.7%), and completing chores (39.2%) were the most common. A minority of participants used active learning techniques such as pausing, rewinding, and replaying segments of the podcast. Very few listened to podcasts multiple times.ConclusionsAn international cohort of emergency clinicians use medical podcasts predominantly for learning. Their listening habits (rarely employing active learning strategies and frequently performing concurrent tasks) may not support this goal. Further exploration of the impact of these activities on learning from podcasts is warranted.
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- Pelletier, F., et al.
(author)
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- 2021
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In: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
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Journal article (peer-reviewed)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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- Lagou, Vasiliki, et al.
(author)
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Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
- 2021
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In: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 12:1
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Journal article (peer-reviewed)abstract
- Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.
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- Mercuri, E., et al.
(author)
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
- 2020
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In: Journal of Comparative Effectiveness Research. - : Becaris Publishing Limited. - 2042-6305 .- 2042-6313. ; 9:5, s. 341-360
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Journal article (peer-reviewed)abstract
- Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype-phenotype/-ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan-Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p <= 0.05). There were no DMD genotype-phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.
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11. |
- Durgan, Joanne, et al.
(author)
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Non-canonical autophagy drives alternative ATG8 conjugation to phosphatidylserine
- 2021
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In: Molecular Cell. - : Elsevier. - 1097-2765 .- 1097-4164. ; 81:9, s. 2031-2040
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Journal article (peer-reviewed)abstract
- Autophagy is a fundamental catabolic process that uses a unique post-translational modification, the conjugation of ATG8 protein to phosphatidylethanolamine (PE). ATG8 lipidation also occurs during non-canonical autophagy, a parallel pathway involving conjugation of ATG8 to single membranes (CASM) at endolysosomal compartments, with key functions in immunity, vision, and neurobiology. It is widely assumed that CASM involves the same conjugation of ATG8 to PE, but this has not been formally tested. Here, we discover that all ATG8s can also undergo alternative lipidation to phosphatidylserine (PS) during CASM, induced pharmacologically, by LC3-associated phagocytosis or influenza A virus infection, in mammalian cells. Importantly, ATG8-PS and ATG8-PE adducts are differentially delipidated by the ATG4 family and bear different cellular dynamics, indicating significant molecular distinctions. These results provide important insights into autophagy signaling, revealing an alternative form of the hallmark ATG8 lipidation event. Furthermore, ATG8-PS provides a specific “molecular signature” for the non-canonical autophagy pathway.
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12. |
- Mora, C., et al.
(author)
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Over half of known human pathogenic diseases can be aggravated by climate change
- 2022
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In: Nature Climate Change. - : Springer Science and Business Media LLC. - 1758-678X .- 1758-6798. ; 12, s. 869-875
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Journal article (peer-reviewed)abstract
- It is relatively well accepted that climate change can affect human pathogenic diseases; however, the full extent of this risk remains poorly quantified. Here we carried out a systematic search for empirical examples about the impacts of ten climatic hazards sensitive to greenhouse gas (GHG) emissions on each known human pathogenic disease. We found that 58% (that is, 218 out of 375) of infectious diseases confronted by humanity worldwide have been at some point aggravated by climatic hazards; 16% were at times diminished. Empirical cases revealed 1,006 unique pathways in which climatic hazards, via different transmission types, led to pathogenic diseases. The human pathogenic diseases and transmission pathways aggravated by climatic hazards are too numerous for comprehensive societal adaptations, highlighting the urgent need to work at the source of the problem: reducing GHG emissions.
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- Salganik, E., et al.
(author)
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Temporal evolution of under-ice meltwater layers and false bottoms and their impact on summer Arctic sea ice mass balance
- 2023
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In: Elementa: Science of the Anthropocene. - 2325-1026. ; 11:1
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Journal article (peer-reviewed)abstract
- Low-salinity meltwater from Arctic sea ice and its snow cover accumulates and creates under-ice meltwater layers below sea ice. These meltwater layers can result in the formation of new ice layers, or false bottoms, at the interface of this low-salinity meltwater and colder seawater. As part of the Multidisciplinary drifting Observatory for the Study of the Arctic Climate (MOSAiC), we used a combination of sea ice coring, temperature profiles from thermistor strings and underwater multibeam sonar surveys with a remotely operated vehicle (ROV) to study the areal coverage and temporal evolution of under-ice meltwater layers and false bottoms during the summer melt season from mid-June until late July. ROV surveys indicated that the areal coverage of false bottoms for a part of the MOSAiC Central Observatory (350 by 200 m2) was 21%. Presence of false bottoms reduced bottom ice melt by 7-8% due to the local decrease in the ocean heat flux, which can be described by a thermodynamic model. Under-ice meltwater layer thickness was larger below first-year ice and thinner below thicker second-year ice. We also found that thick ice and ridge keels confined the areas in which under-ice meltwater accumulated, preventing its mixing with underlying seawater. While a thermodynamic model could reproduce false bottom growth and melt, it could not describe the observed bottom melt rates of the ice above false bottoms. We also show that the evolution of under-ice meltwaterlayer salinity below first-year ice is linked to brine flushing from the above sea ice and accumulating in the meltwater layer above the false bottom. The results of this study aid in estimating the contribution of underice meltwater layers and false bottoms to the mass balance and salt budget for Arctic summer sea ice.
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15. |
- Young, D. L., et al.
(author)
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Structure and mixing of a meandering turbulent chemical plume: concentration and velocity fields
- 2021
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In: Experiments in Fluids. - : Springer Science and Business Media LLC. - 0723-4864 .- 1432-1114. ; 62:12
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Journal article (peer-reviewed)abstract
- This study presents simultaneous particle image velocimetry (PIV) and laser-induced fluorescence (LIF) measurements of a phase-locked meandering chemical plume, the motion of which is forced by the periodic oscillation of a diverting plate. The plume evolves in a turbulent boundary layer in a moderate-Reynolds-number open channel flow. For the meandering plume, the centerline phase-averaged concentration decreases more rapidly with downstream distance and the plume width increases more rapidly with downstream distance (as x(1)) compared to the straight plume (as x(3/)(4)). Furthermore, the concentration fields and transverse profiles are asymmetric about the plume centerline in the meandering plume. Nevertheless, the transverse profiles can be modeled by a Gaussian shape in a segmented manner. The velocity fields indicate that the large-scale alternating-sign vortices induced by the diverting plate are the dominant feature of the flow. The vortices induce the plume to meander and govern the spatial distribution of the phase-averaged concentration. The induced fluid motion by the vortices also helps in explaining the increased mixing and dilution of the concentration field. Further, a phenomenological model of chemical filament transport by the vortical motion explains local peaks in the phase-averaged concentration along the plume centerline. [GRAPHICS] .
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16. |
- Young, David L., et al.
(author)
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Structure and mixing of a meandering turbulent chemical plume: turbulent mixing and eddy diffusivity
- 2022
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In: Experiments in Fluids. - : Springer Science and Business Media LLC. - 0723-4864 .- 1432-1114. ; 63:1
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Journal article (peer-reviewed)abstract
- Turbulent mixing in a meandering non-buoyant chemical plume is far less understood than in a straight plume—partially due to difficulty separating the plume meander from the turbulent fluctuations. This study presents high-resolution measurements of the covariance of the turbulent fluctuations of velocity and concentration, i.e., the turbulent flux, in a phase-locked meandering plume, acquired by simultaneous particle tracking velocimetry and laser-induced fluorescence measurements. Analysis of the data reveals that the spatial distribution of the turbulent quantities is governed by the large-scale alternating-sign vortices that induce the plume meander. Further, the spatial variation of turbulent flux agrees well with the spatial variation of the phase-averaged concentration gradient. As a result, the eddy diffusivity framework effectively models the turbulent flux. As expected from turbulent mixing theory, the eddy diffusivity coefficient plateaus at a constant value once the plume width reaches the size of the largest eddies. However, when the plume width is less than the size of the largest eddies, the eddy diffusivity coefficient scales with the plume width to the n = 1 power. Analysis based on the measurements of the growth rate of the plume width yields a consistent prediction for the variation of the eddy diffusivity coefficient in the near field. Graphical abstract: [Figure not available: see fulltext.]
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