22 results on '"Achermann S"'
Search Results
2. Responding to Other People’s Direct Gaze: Alterations in Gaze Behavior in Infants at Risk for Autism Occur on Very Short Timescales
- Author
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Nyström, P., Bolte, Sven, Falck-Ytter, T., Achermann, S., Andersson Konke, L., Brocki, K., Cauvet, E., Gredebäck, G., Lundin Kleberg, J., Nilsson Jobs, E., Thorup, E., Zander, E., Nyström, P., Bolte, Sven, Falck-Ytter, T., Achermann, S., Andersson Konke, L., Brocki, K., Cauvet, E., Gredebäck, G., Lundin Kleberg, J., Nilsson Jobs, E., Thorup, E., and Zander, E.
- Abstract
© 2017, The Author(s). Atypical gaze processing has been reported in children with autism spectrum disorders (ASD). Here we explored how infants at risk for ASD respond behaviorally to others’ direct gaze. We assessed 10-month-olds with a sibling with ASD (high risk group; n = 61) and a control group (n = 18) during interaction with an adult. Eye-tracking revealed less looking at the adult in the high risk group during 300–1000 ms after the adult initiated direct gaze: a short alteration that is likely to go unnoticed by the naked eye. Data aggregated over longer segments (the traditional eye-tracking approach) showed no group differences. Although findings are limited by lack of outcome data, they are in line with theories linking atypical eye processing to the emergence of ASD.
- Published
- 2017
3. The impact of cardiac magnetic resonance on the clinical management of children with congenital heart disease
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Achermann, S A, University of Zurich, and Achermann, S A
- Subjects
10036 Medical Clinic ,UZHDISS UZH Dissertations ,610 Medicine & health - Published
- 2008
4. Der Anteil pränatal erfasster Fälle von ausgewählten Fehlbildungen in der EUROCAT-Studie. Ergebnisse im Kanton Zürich von 1988 bis 1997
- Author
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Achermann, S, Addor, Marie-Claude, Schinzel, Albert, University of Zurich, and Schinzel, Albert
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prenatal ,10039 Institute of Medical Genetics ,statistics ,570 Life sciences ,biology ,610 Medicine & health ,2700 General Medicine ,Genetics (clinical) - Published
- 2000
5. Three Assumptions Concerning Growth
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Sigrist, Stephan, Varnholt, Burkhard, Achermann, Simone, Folkers, Gerd, Sigrist, S ( Stephan ), Varnholt, B ( Burkhard ), Achermann, S ( Simone ), Folkers, G ( Gerd ), von Sass, Hartmut, Sigrist, Stephan, Varnholt, Burkhard, Achermann, Simone, Folkers, Gerd, Sigrist, S ( Stephan ), Varnholt, B ( Burkhard ), Achermann, S ( Simone ), Folkers, G ( Gerd ), and von Sass, Hartmut
- Published
- 2009
6. [Return to Sport (RTS) After Anterior Cruciate Ligament Reconstruction: Which Factors Influence the RTS Decision?]
- Author
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Achermann S, Marty J, Beck A, Rieger B, Hirschmüller A, and Baur H
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- Humans, Female, Infant, Quadriceps Muscle surgery, Return to Sport, Retrospective Studies, Muscle Strength, Anterior Cruciate Ligament Injuries surgery, Anterior Cruciate Ligament Reconstruction rehabilitation
- Abstract
Background: It is unknown which valid criteria should be considered to justify the decision for return to sport (RTS) following anterior cruciate ligament reconstruction (ACLR). The research question is whether gender, age, the outcome of the isokinetic maximal strength measurement and the single-leg hop test (quantitative/qualitative) influence the decision for RTS nine months after ACLR., Methods: This study is a retrospective data analysis. The research question was evaluated with a multiple logistic regression analysis (MLR). The dependent variable, RTS yes/no, is based on the decision of the orthopaedist in charge of treatment nine months (±30 days) after ACLR. The following possible influencing factors were investigated: gender, age, limb symmetry index (LSI) of maximal knee extension and knee flexion strength at 60°/sec., LSI of single-leg hop test and evaluation of knee valgus., Results: Data of 71 patients were included for MLR. The odds ratios (OR) for RTS increased with female gender (OR, 4.808; p=0.035), a higher LSI of maximal strength of knee extension (OR, 1.117; p=0.009) and a higher LSI of the single-leg hop test (OR, 1.125; p=0.020). Age, the LSI of maximal strength of knee flexion and knee valgus had no influence on the RTS decision., Conclusion: Gender and the limb symmetry indexes of the maximal strength of knee extension and of the single-leg hop test are associated with RTS nine months after ACLR. These results should be considered to optimise rehabilitation after ACLR., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)
- Published
- 2023
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7. Learning a new balance task: The influence of prior motor practice on training adaptations.
- Author
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Keller M, Roth R, Achermann S, and Faude O
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- Humans, Acclimatization, Postural Balance, Motor Skills, Learning, Adaptation, Physiological
- Abstract
Prior motor experience is thought to aid in the acquisition of new skills. However, studies have shown that balance training does not promote learning of a subsequent balance task. These results stand in contrast to the learning-to-learn paradigm, which is well described for other tasks. We therefore tested if a coordinative affinity between tasks is needed to achieve a learning-to-learn for balance control. Three groups trained different motor tasks during training phase1 (coordination ladder (COOR); bipedal wobble board (2WB); single-leg wobble board (1WB)). During training phase2, all groups trained a tiltboard balance task. Task-specific and transfer effects were evaluated for phase1. A potential learning-to-learn effect was evaluated by comparing the acquisition rates from phase2 for the tiltboard task that was used for training and testing. The results indicate task-specific adaptations after phase1 for 1WB. In contrast, 2WB showed similar improvements than 1WB and COOR (effect sizes: -0.31 to -0.38) when tested on the wobble board with bipedal stance indicating no task-specific improvement for 2WB. For phase2, the linear regression analysis showed larger adaptations for 1WB and 2WB when compared to COOR. This effect implies some uncertainty due to overlapping confidence intervals. Task-specific adaptations after phase1 were found for 1WB but not 2WB. It is discussed that the difficulty of the training task could explain these contrasting results. During phase2, larger adaptations were found for both groups that trained balance tasks during phase1. Thus, despite some uncertainty, prior balance training appears to promote adaptations of a subsequently learned balance task. Highlights Prior balance training augments the learning of a new balance task if the two tasks share certain coordinative features.The concept of "learning to learn" can probably be applied to postural control, although further studies are needed.Balance training results (partly) in task-specific adaptations with no immediate transfer to other (but unrelated) balance tasks.
- Published
- 2023
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8. Contact-Free Monitoring of Pulse Rate For Triage of Patients Presenting to the Emergency Department.
- Author
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Caspar M, Dutilh G, Achermann S, Bingisser R, and Nickel CH
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- Emergency Service, Hospital, Heart Rate, Humans, Oximetry, Triage
- Abstract
Background: The evaluation of a patient's pulse rate (PR) plays a key role in emergency triage and is commonly measured in a contact-dependent way., Objective: Our aims were to evaluate a camera-based prototype application (CBPA) measuring PR in an emergency department (ED) as an alternative to the current contact-dependent method of pulse oximetry and to determine the correlation between CBPA and pulse oximetry in measuring PR., Methods: We simultaneously measured PR with CBPA and pulse oximetry as a reference method on a large group of ED walk-in patients. We then estimated correlation and agreement between the two methods, as well as the corresponding 95% confidence intervals., Results: In a convenience sample of 446 patients, the correlation between CBPA and pulse oximetry in measuring PR was 0.939 (95% confidence interval [CI] 0.927-0.949) and the intraclass correlation was 0.939 (95% CI 0.927-0.949)., Conclusions: Our study found that CBPA seems to be a viable alternative to the current method of measuring PR at triage. ClinicalTrials.gov identifier: NCT03393585., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2021
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9. Updating Expectations About Unexpected Object Motion in Infants Later Diagnosed with Autism Spectrum Disorder.
- Author
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Achermann S, Falck-Ytter T, Bölte S, and Nyström P
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- Child, Humans, Infant, Motivation, Autism Spectrum Disorder diagnosis
- Abstract
In typical development, infants form predictions about future events based on incoming sensory information, which is essential for perception and goal-directed action. It has been suggested that individuals with autism spectrum disorder (ASD) make predictions differently compared to neurotypical individuals. We investigated how infants who later received an ASD diagnosis and neurotypical infants react to temporarily occluded moving objects that violate initial expectations about object motion. Our results indicate that infants regardless of clinical outcome react similarly to unexpected object motion patterns, both in terms of gaze shift latencies and pupillary responses. These findings indicate that the ability to update representations about such regularities in light of new information may not differ between typically developing infants and those with later ASD., (© 2021. The Author(s).)
- Published
- 2021
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10. Motor atypicalities in infancy are associated with general developmental level at 2 years, but not autistic symptoms.
- Author
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Achermann S, Nyström P, Bölte S, and Falck-Ytter T
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- Child, Child, Preschool, Humans, Infant, Siblings, Autism Spectrum Disorder, Autistic Disorder
- Abstract
Lay Abstract: Atypicalities in motor functioning are often observed in later born infant siblings of children with autism spectrum disorder. The goal of our study was to investigate motor functioning in infants with and without familial history of autism spectrum disorder. Specifically, we investigated how infants catch a ball that is rolling toward them following a non-straight path, a task that requires both efficient planning and execution. Their performance was measured using detailed three-dimensional motion capture technology. We found that several early motor functioning measures were different in infants with an older autistic sibling compared to controls. However, these early motor measures were not related to autistic symptoms at the age of 2 years. Instead, we found that some of the early motor measures were related to their subsequent non-social, general development. The findings of our study help us understand motor functioning early in life and how motor functioning is related to other aspects of development.
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- 2020
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11. Relating Metatranscriptomic Profiles to the Micropollutant Biotransformation Potential of Complex Microbial Communities.
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Achermann S, Mansfeldt CB, Müller M, Johnson DR, and Fenner K
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- Biotransformation, Nitrification, Oxidation-Reduction, Sewage, Microbiota, Water Pollutants, Chemical
- Abstract
Biotransformation of chemical contaminants is of importance in various natural and engineered systems. However, in complex microbial communities and with chemical contaminants at low concentrations, our current understanding of biotransformation at the level of enzyme-chemical interactions is limited. Here, we explored an approach to identify associations between micropollutant biotransformation and specific gene products in complex microbial communities, using association mining between chemical and metatranscriptomic data obtained from experiments with activated sludge grown at different solid retention times. We successfully demonstrate proportional relationships between the measured rate constants and associated gene transcripts for nitrification as a major community function, but also for the biotransformation of two nitrile-containing micropollutants (bromoxynil and acetamiprid) and transcripts of nitrile hydratases, a class of enzymes that we experimentally confirmed to produce the detected amide transformation products. As these results suggest that metatranscriptomic information can indeed be quantitatively correlated with low abundant community functions such as micropollutant biotransformation in complex microbial communities, we proceeded to explore the potential of association mining to highlight enzymes likely involved in catalyzing less well-understood micropollutant biotransformation reactions. Specifically, we use the cases of nitrile hydration and oxidative biotransformation reactions to show that the consideration of additional experimental evidence (such as information on biotransformation pathways) increases the likelihood of detecting plausible novel enzyme-chemical relationships. Finally, we identify a cluster of mono- and dioxygenase fourth-level enzyme classes that most strongly correlate with oxidative micropollutant biotransformation reactions in activated sludge.
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- 2020
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12. Microbial residence time is a controlling parameter of the taxonomic composition and functional profile of microbial communities.
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Mansfeldt C, Achermann S, Men Y, Walser JC, Villez K, Joss A, Johnson DR, and Fenner K
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- Bacteria genetics, Bioreactors microbiology, DNA, Bacterial genetics, Phylogeny, RNA, Ribosomal, 16S genetics, Sewage microbiology, Wastewater microbiology, Bacteria classification, Bacteria isolation & purification, Microbiota
- Abstract
A remaining challenge within microbial ecology is to understand the determinants of richness and diversity observed in environmental microbial communities. In a range of systems, including activated sludge bioreactors, the microbial residence time (MRT) has been previously shown to shape the microbial community composition. However, the physiological and ecological mechanisms driving this influence have remained unclear. Here, this relationship is explored by analyzing an activated sludge system fed with municipal wastewater. Using a model designed in this study based on Monod-growth kinetics, longer MRTs were shown to increase the range of growth parameters that enable persistence, resulting in increased richness and diversity in the modeled community. In laboratory experiments, six sequencing batch reactors treating domestic wastewater were operated in parallel at MRTs between 1 and 15 days. The communities were characterized using both 16S ribosomal RNA and non-target messenger RNA sequencing (metatranscriptomic analysis), and model-predicted monotonic increases in richness were confirmed in both profiles. Accordingly, taxonomic Shannon diversity also increased with MRT. In contrast, the diversity in enzyme class annotations resulting from the metatranscriptomic analysis displayed a non-monotonic trend over the MRT gradient. Disproportionately high abundances of transcripts encoding for rarer enzymes occur at longer MRTs and lead to the disconnect between taxonomic and functional diversity profiles.
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- 2019
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13. Contact-free monitoring of respiratory rates for triage of patients presenting to the emergency department.
- Author
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Achermann S, Caspar M, Wirth C, Becker C, Rocque M, Kirenko I, Schlack A, Dutilh G, Bingisser R, and Nickel CH
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- Female, Humans, Male, Sensitivity and Specificity, Emergency Service, Hospital, Monitoring, Physiologic methods, Respiratory Rate, Tachypnea diagnosis, Triage
- Published
- 2019
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14. Camera-based measurement of respiratory rates is reliable.
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Becker C, Achermann S, Rocque M, Kirenko I, Schlack A, Dreher-Hummel T, Zumbrunn T, Bingisser R, and Nickel CH
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- Adult, Capnography methods, Healthy Volunteers, Hospitals, University, Humans, Male, Middle Aged, Pilot Projects, Reproducibility of Results, Sensitivity and Specificity, Switzerland, Capnography instrumentation, Monitoring, Physiologic instrumentation, Photoplethysmography instrumentation, Respiratory Rate physiology, Vital Signs
- Abstract
Objectives: Respiratory rate (RR) is one of the most important vital signs used to detect whether a patient is in critical condition. It is part of many risk scores and its measurement is essential for triage of patients in emergency departments. It is often not recorded as measurement is cumbersome and time-consuming. We intended to evaluate the accuracy of camera-based measurements as an alternative measurement to the current practice of manual counting., Materials and Methods: We monitored the RR of healthy male volunteers with a camera-based prototype application and simultaneously by manual counting and by capnography, which was considered the gold standard. The four assessors were mutually blinded. We simulated normoventilation, hypoventilation and hyperventilation as well as deep, normal and superficial breathing depths to assess potential clinical settings. The volunteers were assessed while being undressed, wearing a T-shirt or a winter coat., Results: In total, 20 volunteers were included. The results of camera-based measurements of RRs and capnography were in close agreement throughout all clothing styles and respiratory patterns (Pearson's correlation coefficient, r=0.90-1.00, except for one scenario, in which the volunteer breathed slowly dressed in a winter coat r=0.84). In the winter-coat scenarios, the camera-based prototype application was superior to human counters., Conclusion: In our pilot study, we found that camera-based measurements delivered accurate and reliable results. Future studies need to show that camera-based measurements are a secure alternative for measuring RRs in clinical settings as well.
- Published
- 2018
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15. Trends in Micropollutant Biotransformation along a Solids Retention Time Gradient.
- Author
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Achermann S, Falås P, Joss A, Mansfeldt CB, Men Y, Vogler B, and Fenner K
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- Biotransformation, Oxidation-Reduction, Sewage, Waste Disposal, Fluid, Wastewater, Water Pollutants, Chemical
- Abstract
For many polar organic micropollutants, biotransformation by activated sludge microorganisms is a major removal process during wastewater treatment. However, our current understanding of how wastewater treatment operations influence microbial communities and their micropollutant biotransformation potential is limited, leaving major parts of observed variability in biotransformation rates across treatment facilities unexplained. Here, we present biotransformation rate constants for 42 micropollutants belonging to different chemical classes along a gradient of solids retention time (SRT). The geometric mean of biomass-normalized first-order rate constants shows a clear increase between 3 and 15 d SRT by 160% and 87%, respectively, in two experiments. However, individual micropollutants show a variety of trends. Rate constants of oxidative biotransformation reactions mostly increased with SRT. Yet, nitrifying activity could be excluded as primary driver. For substances undergoing other than oxidative reactions, i.e., mostly substitution-type reactions, more diverse dependencies on SRT were observed. Most remarkably, characteristic trends were observed for groups of substances undergoing similar types of initial transformation reaction, suggesting that shared enzymes or enzyme systems that are conjointly regulated catalyze biotransformation reactions within such groups. These findings open up opportunities for correlating rate constants with measures of enzyme abundance such as genes or gene products, which in turn should help to identify enzymes associated with the respective biotransformation reactions.
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- 2018
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16. Biotransformation of Sulfonamide Antibiotics in Activated Sludge: The Formation of Pterin-Conjugates Leads to Sustained Risk.
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Achermann S, Bianco V, Mansfeldt CB, Vogler B, Kolvenbach BA, Corvini PFX, and Fenner K
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- Anti-Bacterial Agents, Biotransformation, Pterins, Sulfonamides, Sewage, Water Pollutants, Chemical
- Abstract
The presence of antibiotics in treated wastewater and consequently in surface and groundwater resources raises concerns about the formation and spread of antibiotic resistance. Improving the removal of antibiotics during wastewater treatment therefore is a prime objective of environmental engineering. Here we obtained a detailed picture of the fate of sulfonamide antibiotics during activated sludge treatment using a combination of analytical methods. We show that pterin-sulfonamide conjugates, which are formed when sulfonamides interact with their target enzyme to inhibit folic acid synthesis, represent a major biotransformation route for sulfonamides in laboratory batch experiments with activated sludge. The same major conjugates were also present in the effluents of nine Swiss wastewater treatment plants. The demonstration of this biotransformation route, which is related to bacterial growth, helps explain seemingly contradictory views on optimal conditions for sulfonamide removal. More importantly, since pterin-sulfonamide conjugates show retained antibiotic activity, our findings suggest that risk from exposure to sulfonamide antibiotics may be less reduced during wastewater treatment than previously assumed. Our results thus further emphasize the inadequacy of focusing on parent compound removal and the importance of investigating biotransformation pathways and removal of bioactivity to properly assess contaminant removal in both engineered and natural systems.
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- 2018
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17. Relative contribution of ammonia oxidizing bacteria and other members of nitrifying activated sludge communities to micropollutant biotransformation.
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Men Y, Achermann S, Helbling DE, Johnson DR, and Fenner K
- Subjects
- Bacteria metabolism, Biotransformation, Nitrification, Oxidation-Reduction, Ammonia metabolism, Sewage microbiology
- Abstract
Improved micropollutant (MP) biotransformation during biological wastewater treatment has been associated with high ammonia oxidation activities, suggesting co-metabolic biotransformation by ammonia oxidizing bacteria as an underlying mechanism. The goal of this study was to clarify the contribution of ammonia oxidizing bacteria to increased MP degradation in nitrifying activated sludge (NAS) communities using a series of inhibition experiments. To this end, we treated a NAS community with two different ammonia oxidation inhibitors, namely octyne (OCT), a mechanistic inhibitor that covalently binds to ammonia monooxygenases, and allylthiourea (ATU), a copper chelator that depletes copper ions from the active center of ammonia monooxygenases. We investigated the biotransformation of 79 structurally different MPs by the inhibitor-treated and untreated sludge communities. Fifty-five compounds exhibited over 20% removal in the untreated control after a 46 h-incubation. Of these, 31 compounds were significantly inhibited by either ATU and/or OCT. For 17 of the 31 MPs, the inhibition by ATU at 46 h was substantially higher than by OCT despite the full inhibition of ammonia oxidation by both inhibitors. This was particularly the case for almost all thioether and phenylurea compounds tested, suggesting that in nitrifying activated sludge communities, ATU does not exclusively act as an inhibitor of bacterial ammonia oxidation. Rather, ATU also inhibited enzymes contributing to MP biotransformation but not to bulk ammonia oxidation. Thus, inhibition studies with ATU tend to overestimate the contribution of ammonia-oxidizing bacteria to MP biotransformation in nitrifying activated sludge communities. Biolog tests revealed only minor effects of ATU on the heterotrophic respiration of common organic substrates by the sludge community, suggesting that ATU did not affect enzymes that were essential in energy conservation and central metabolism of heterotrophs. By comparing ATU- and OCT-treated samples, as well as before and after ammonia oxidation was recovered in OCT-treated samples, we were able to demonstrate that ammonia-oxidizing bacteria were highly involved in the biotransformation of four compounds: asulam, clomazone, monuron and trimethoprim., (Copyright © 2016 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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18. An Embodied Account of Early Executive-Function Development.
- Author
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Gottwald JM, Achermann S, Marciszko C, Lindskog M, and Gredebäck G
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- Adult, Attention physiology, Female, Humans, Infant, Inhibition, Psychological, Male, Motor Activity physiology, Child Development physiology, Cognition physiology, Executive Function physiology, Memory, Short-Term physiology
- Abstract
The importance of executive functioning for later life outcomes, along with its potential to be positively affected by intervention programs, motivates the need to find early markers of executive functioning. In this study, 18-month-olds performed three executive-function tasks-involving simple inhibition, working memory, and more complex inhibition-and a motion-capture task assessing prospective motor control during reaching. We demonstrated that prospective motor control, as measured by the peak velocity of the first movement unit, is related to infants' performance on simple-inhibition and working memory tasks. The current study provides evidence that motor control and executive functioning are intertwined early in life, which suggests an embodied perspective on executive-functioning development. We argue that executive functions and prospective motor control develop from a common source and a single motive: to control action. This is the first demonstration that low-level movement planning is related to higher-order executive control early in life., Competing Interests: The authors declared that they had no conflicts of interest with respect to their authorship or the publication of this article.
- Published
- 2016
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19. Glycosidase activated release of fluorescent 1,8-naphthalimide probes for tumor cell imaging from glycosylated 'pro-probes'.
- Author
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Calatrava-Pérez E, Bright SA, Achermann S, Moylan C, Senge MO, Veale EB, Williams DC, Gunnlaugsson T, and Scanlan EM
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- 1-Naphthylamine chemistry, 1-Naphthylamine metabolism, Cell Line, Tumor, Glycosylation, HeLa Cells, Humans, 1-Naphthylamine analogs & derivatives, Fluorescent Dyes chemistry, Fluorescent Dyes metabolism, Glycoside Hydrolases metabolism, Molecular Imaging methods, Naphthalimides chemistry, Naphthalimides metabolism, Quinolones chemistry, Quinolones metabolism
- Abstract
Glycosylated 4-amino-1,8-naphthalimide derivatives possess a native glycosidic linkage that can be selectively hydrolysed in situ by glycosidase enzymes to release the naphthalimide as a fluorescent imaging or therapeutic agent. In vitro studies using a variety of cancer cell lines demonstrated that the naphthalimides only get taken up into cells upon enzymatic cleavage from the glycan unit; a mechanism that offers a novel approach for the targeted delivery of probes/drugs.
- Published
- 2016
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20. [Data on selected prenatal malformations in the EUROCAT study. Results of Zurich Canton from 1988 to 1997].
- Author
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Achermann S, Addor MC, and Schinzel A
- Subjects
- Congenital Abnormalities classification, Congenital Abnormalities embryology, Female, Humans, Infant, Newborn, Pregnancy, Switzerland epidemiology, Congenital Abnormalities epidemiology, Registries
- Abstract
In the context of the EUROCAT study, data on selected congenital malformations and chromosome aberrations were collected from the Canton of Zurich (1988-1997). It was found that the major proportion of severe and early malformations, such as anencephalus and holoprosencephaly, were detected prenatally; for oral clefts and meningomyeloceles this was not the case, at any rate in regard to isolated (non-syndromic) malformations. However, if these defects occur in combination with a chromosome aberration, the likelihood of such a case being registered is higher. For the same reason, i.e. due to abnormal ultrasound findings and intrauterine growth retardation, trisomies 13 and 18 were more often detected prenatally than trisomy 21.
- Published
- 2000
21. Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.
- Author
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Hergersberg M, Glatzel M, Capone A, Achermann S, Hagmann A, Fischer J, Ersch J, Aguzzi A, and Boltshauser E
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- Axons pathology, Biopsy, Homozygote, Humans, Infant, Newborn, Male, Microscopy, Electron, Muscle, Skeletal innervation, Muscle, Skeletal pathology, Neurons pathology, Peripheral Nerves pathology, Spinal Cord pathology, Chromosome Deletion, Chromosomes, Human, Pair 5, Muscular Atrophy, Spinal genetics
- Abstract
A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.
- Published
- 2000
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22. Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: a new syndrome?
- Author
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Achermann S, Largo R, Kotzot D, Riegel M, and Schinzel A
- Subjects
- Adult, Body Height, Body Weight, Child, Preschool, Humans, Infant, Jews, Male, Microsatellite Repeats, Nuclear Family, Poland ethnology, Switzerland, Syndrome, Developmental Disabilities genetics, Face abnormalities, Growth Disorders genetics, Intellectual Disability genetics, Myopia genetics
- Abstract
We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments. Because the pattern of congenital abnormalities is not like that of any well-known multiple congenital anomaly/mental retardation syndrome, we suggest a previously undescribed syndrome of autosomal recessive or X-linked inheritance., (Copyright 1999 Wiley-Liss, Inc.)
- Published
- 1999
- Full Text
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