| 1. |
- Middeldorp, Christel M., et al.
(författare)
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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia : design, results and future prospects
- 2019
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Ingår i: European Journal of Epidemiology. - : Springer Science and Business Media LLC. - 0393-2990 .- 1573-7284. ; 34:3, s. 279-300
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Tidskriftsartikel (refereegranskat)abstract
- The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
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| 2. |
- Taal, H. Rob, et al.
(författare)
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Common variants at 12q15 and 12q24 are associated with infant head circumference
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 532-538
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
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| 3. |
- van der Valk, Ralf J P, et al.
(författare)
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.
- 2015
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 24:4, s. 1155-68
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Tidskriftsartikel (refereegranskat)abstract
- Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 × 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; β = 0.046, SE = 0.008, P = 2.46 × 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 × 10(-4)) and adult height (N = 127 513; P = 1.45 × 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
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| 4. |
- Kondolf, G. Mathias, et al.
(författare)
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Process-based ecological river restoration : Visualizing three-dimensional connectivity and dynamic vectors to recover lost linkages
- 2006
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Ingår i: Ecology & Society. - 1708-3087. ; 11:2, s. 1-16
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Tidskriftsartikel (refereegranskat)abstract
- Human impacts to aquatic ecosystems often involve changes in hydrologic connectivity and flow regime. Drawing upon examples in the literature and from our experience, we developed conceptual models and used simple bivariate plots to visualize human impacts and restoration efforts in terms of connectivity and flow dynamics. Human-induced changes in longitudinal, lateral, and vertical connectivity are often accompanied by changes in flow dynamics, but in our experience restoration efforts to date have more often restored connectivity than flow dynamics. Restoration actions have included removing dams to restore fish passage, reconnecting flow through artificially cut-off side channels, setting back or breaching levees, and removing fine sediment deposits that block vertical exchange with the bed, thereby partially restoring hydrologic connectivity, i.e., longitudinal, lateral, or vertical. Restorations have less commonly affected flow dynamics, presumably because of the social and economic importance of water diversions or flood control. Thus, as illustrated in these bivariate plots, the trajectories of ecological restoration are rarely parallel with degradation trajectories because restoration is politically and economically easier along some axes more than others.
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| 5. |
- Marras, Alessandro, et al.
(författare)
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Characterization of the Percival detector with soft X-rays
- 2021
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Ingår i: Journal of Synchrotron Radiation. - 0909-0495 .- 1600-5775. ; 28, s. 131-145
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Tidskriftsartikel (refereegranskat)abstract
- In this paper the back-side-illuminated Percival 2-Megapixel (P2M) detector is presented, along with its characterization by means of optical and X-ray photons. For the first time, the response of the system to soft X-rays (250 eV to 1 keV) is presented. The main performance parameters of the first detector are measured, assessing the capabilities in terms of noise, dynamic range and single-photon discrimination capability. Present limitations and coming improvements are discussed.
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| 6. |
- Flykt, Anders, et al.
(författare)
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Fear of Wolves and Bears : Physiological Responses and Negative Associations in a Swedish Sample
- 2013
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Ingår i: Human Dimensions of Wildlife. - : Informa UK Limited. - 1087-1209 .- 1533-158X. ; 18:6, s. 416-434
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Tidskriftsartikel (refereegranskat)abstract
- Human fear is important in wildlife management, but self-reported fear provides only partial information about fear reactions. Thus, eye movements, skin conductance, and changes in heart rate were assessed during picture viewing, visual search, and implicit evaluation tasks. Pictures of bears, wolves, moose, and hares were presented to participants who self-reported as fearful of bears (n = 8), fearful of bears and wolves (n = 15), or not fearful of bears or wolves (n = 14). The feared animal was expected to elicit strong physiological responses, be dwelled upon, and be associated with negative words. Independent of fearfulness, bear pictures elicited the strongest physiological responses, and wolf pictures showed the strongest negative associations. The bear-fearful group showed stronger physiological responses to bears. The bear- and wolf-fearful group showed more difficulty in associating bears with good words. Presence of a feared animal in the search task, resulted in prolonged response time.
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| 7. |
- McKnight, J. Chris, et al.
(författare)
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When the human brain goes diving : using near-infrared spectroscopy to measure cerebral and systemic cardiovascular responses to deep, breath-hold diving in elite freedivers
- 2021
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Ingår i: Philosophical Transactions of the Royal Society of London. Biological Sciences. - : The Royal Society. - 0962-8436 .- 1471-2970. ; 376:1831
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Tidskriftsartikel (refereegranskat)abstract
- Continuous measurements of haemodynamic and oxygenation changes in free living animals remain elusive. However, developments in biomedical technologies may help to fill this knowledge gap. One such technology is continuous-wave near-infrared spectroscopy (CW-NIRS)-a wearable and non-invasive optical technology. Here, we develop a marinized CW-NIRS system and deploy it on elite competition freedivers to test its capacity to function during deep freediving to 107 m depth. We use the oxyhaemoglobin and deoxyhaemoglobin concentration changes measured with CW-NIRS to monitor cerebral haemodynamic changes and oxygenation, arterial saturation and heart rate. Furthermore, using concentration changes in oxyhaemoglobin engendered by cardiac pulsation, we demonstrate the ability to conduct additional feature exploration of cardiac-dependent haemodynamic changes. Freedivers showed cerebral haemodynamic changes characteristic of apnoeic diving, while some divers also showed considerable elevations in venous blood volumes close to the end of diving. Some freedivers also showed pronounced arterial deoxygenation, the most extreme of which resulted in an arterial saturation of 25%. Freedivers also displayed heart rate changes that were comparable to diving mammals both in magnitude and patterns of change. Finally, changes in cardiac waveform associated with heart rates less than 40 bpm were associated with changes indicative of a reduction in vascular compliance. The success here of CW-NIRS to non-invasively measure a suite of physiological phenomenon in a deep-diving mammal highlights its efficacy as a future physiological monitoring tool for human freedivers as well as free living animals. This article is part of the theme issue 'Measuring physiology in free-living animals (Part II)'.
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| 8. |
- Mulder, Eric, et al.
(författare)
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Case Studies in Physiology : Is blackout in breath-hold diving related to cardiac arrhythmias?
- 2023
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Ingår i: Journal of applied physiology. - : American Physiological Society. - 8750-7587 .- 1522-1601. ; 134:4, s. 951-956
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Tidskriftsartikel (refereegranskat)abstract
- Syncope or "blackout" (BO) in breath-hold diving (freediving) is generally considered to be caused by hypoxia. However, it has been suggested that cardiac arrhythmias affecting the pumping effectivity could contribute to BO. BO is fairly common in competitive freediving, where athletes aim for maximal performance. We recorded heart rate (HR) during a static apnea (STA) competition, to reveal if arrhythmias occur. Four male freedivers with STA personal best (PB) of 349 ± 43 s, volunteered during national championships, where they performed STA floating face down in a shallow indoor pool. A non-coded Polar T31 chest strap recorded R-R intervals and a water- and pressure-proof pulse oximeter arterial oxygen saturation. Three divers produced STA near their PB without problems, whereas one diver ended with BO at 5 min 17s, which was 12 s beyond his PB. He was immediately brought up by safety divers and resumed breathing within 10 s. All divers attained similar lowest diving HR (47 ± 4 beats/min), but HR recordings displayed a different pattern for the diver ending with BO. After a short tachycardia, the three successful divers developed bradycardia, which became more pronounced during the second half of the apnea. The fourth diver developed pronounced bradycardia earlier, and at 2.5 min into the apnea, HR started alternating between approximately 50 and 140 beats/min, until the diver lost consciousness. At resumed breathing, HR returned to baseline. Nadir oxygen saturation was similar for all divers. We speculate that arrhythmia could have contributed to BO, by lowering stroke volume leading to a systolic blood pressure drop, affecting brain perfusion.NEW & NOTEWORTHY Heart rate during prolonged breath-holding until the point of loss of consciousness has not previously been published. The recordings show that blackout was preceded by a period of persistent alterations in R-R intervals, whereby an ectopic beat followed every normal heartbeat. Explanations for this deviating heart rate pattern could be either premature atrial contractions or premature ventricular contractions following every atrial beat, i.e., bigeminy, which could have compromised cardiac pumping function and caused/contributed to blackout.
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| 9. |
- Schröder, Stephan, et al.
(författare)
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A large-area single-filament infrared emitter and its application in a spectroscopic ethanol gas sensing system
- 2021
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Ingår i: Microsystems and Nanoengineering. - : Springer Nature. - 2055-7434. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Nondispersive infrared (NDIR) spectroscopy is an important technology for highly accurate and maintenance-free sensing of gases, such as ethanol and carbon dioxide. However, NDIR spectroscopy systems are currently too expensive, e.g., for consumer and automotive applications, as the infrared (IR) emitter is a critical but costly component of these systems. Here, we report on a low-cost large-area IR emitter featuring a broadband emission spectrum suitable for small NDIR gas spectroscopy systems. The infrared emitter utilizes Joule heating of a Kanthal (FeCrAl) filament that is integrated in the base substrate using an automated high-speed wire bonding process, enabling simple and rapid formation of a long meander-shaped filament. We describe the critical infrared emitter characteristics, including the effective infrared emission spectrum, thermal frequency response, and power consumption. Finally, we integrate the emitter into a handheld breath alcohol analyzer and show its operation in both laboratory and real-world settings, thereby demonstrating the potential of the emitter for future low-cost optical gas sensor applications. © 2021, The Author(s).
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