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  • 1
    Online Resource
    Online Resource
    Table_3.xlsx
    Frontiers Media SA ; 2021
    In:  Frontiers in Immunology Vol. 12 ( 2021-12-21)
    Details
    In: Frontiers in Immunology, Frontiers Media SA, Vol. 12 ( 2021-12-21)
    Abstract: Inborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early application of next-generation sequencing (NGS) as a diagnostic method in the evaluation of IEI a promising development. We aimed to provide an overview of the diagnostic yield and time to diagnosis in a cohort of patients suspected of IEI and evaluated by an NGS based IEI panel early in the diagnostic trajectory in a multicenter setting in the Netherlands. Study Design We performed a prospective observational cohort study. We collected data of 165 patients with a clinical suspicion of IEI without prior NGS based panel evaluation that were referred for early NGS using a uniform IEI gene panel. The diagnostic yield was assessed in terms of definitive genetic diagnoses, inconclusive diagnoses and patients without abnormalities in the IEI gene panel. We also assessed time to diagnosis and clinical implications. Results For children, the median time from first consultation to diagnosis was 119 days versus 124 days for adult patients (U=2323; p=0.644). The median turn-around time (TAT) of genetic testing was 56 days in pediatric patients and 60 days in adult patients (U=1892; p=0.191). A definitive molecular diagnosis was made in 25/65 (24.6%) of pediatric patients and 9/100 (9%) of adults. Most diagnosed disorders were identified in the categories of immune dysregulation (n=10/25; 40%), antibody deficiencies (n=5/25; 20%), and phagocyte diseases (n=5/25; 20%). Inconclusive outcomes were found in 76/165 (46.1%) patients. Within the patient group with a genetic diagnosis, a change in disease management occurred in 76% of patients. Conclusion In this cohort, the highest yields of NGS based evaluation for IEI early in the diagnostic trajectory were found in pediatric patients, and in the disease categories immune dysregulation and phagocyte diseases. In cases where a definitive diagnosis was made, this led to important disease management implications in a large majority of patients. More research is needed to establish a uniform diagnostic pathway for cases with inconclusive diagnoses, including variants of unknown significance.
    Type of Medium: Online Resource
    ISSN: 1664-3224
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fimmu.2021.780134
    DOI: 10.3389/fimmu.2021.780134.s001
    DOI: 10.3389/fimmu.2021.780134.s002
    DOI: 10.3389/fimmu.2021.780134.s003
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2606827-8
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  • 2
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    We Must Stop Fossil Fuel Emissions to Protect Permafrost Ecosystems
    Frontiers Media SA ; 2022
    In:  Frontiers in Environmental Science Vol. 10 ( 2022-6-29)
    Details
    In: Frontiers in Environmental Science, Frontiers Media SA, Vol. 10 ( 2022-6-29)
    Abstract: Climate change is an existential threat to the vast global permafrost domain. The diverse human cultures, ecological communities, and biogeochemical cycles of this tenth of the planet depend on the persistence of frozen conditions. The complexity, immensity, and remoteness of permafrost ecosystems make it difficult to grasp how quickly things are changing and what can be done about it. Here, we summarize terrestrial and marine changes in the permafrost domain with an eye toward global policy. While many questions remain, we know that continued fossil fuel burning is incompatible with the continued existence of the permafrost domain as we know it. If we fail to protect permafrost ecosystems, the consequences for human rights, biosphere integrity, and global climate will be severe. The policy implications are clear: the faster we reduce human emissions and draw down atmospheric CO 2 , the more of the permafrost domain we can save. Emissions reduction targets must be strengthened and accompanied by support for local peoples to protect intact ecological communities and natural carbon sinks within the permafrost domain. Some proposed geoengineering interventions such as solar shading, surface albedo modification, and vegetation manipulations are unproven and may exacerbate environmental injustice without providing lasting protection. Conversely, astounding advances in renewable energy have reopened viable pathways to halve human greenhouse gas emissions by 2030 and effectively stop them well before 2050. We call on leaders, corporations, researchers, and citizens everywhere to acknowledge the global importance of the permafrost domain and work towards climate restoration and empowerment of Indigenous and immigrant communities in these regions.
    Type of Medium: Online Resource
    ISSN: 2296-665X
    URL: Article
    DOI: 10.3389/fenvs.2022.889428
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2741535-1
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  • 3
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    Table_1.XLSX
    Frontiers Media SA ; 2021
    In:  Frontiers in Pediatrics Vol. 9 ( 2021-5-31)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 9 ( 2021-5-31)
    Abstract: Background: Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific clinical presentation or limitations to physical examination can result in a plethora of genetic testing techniques, without clear strategies on test ordering. Here, we review our 2-years experiences of rapid genetic testing of NICU patients in order to provide such recommendations. Methods: We retrospectively included all patients admitted to the NICU who received clinical genetic consultation and genetic testing in our University hospital. We documented reasons for referral for genetic consultation, presenting phenotypes, differential diagnoses, genetic testing requested and their outcomes, as well as the consequences of each (rapid) genetic diagnostic approach. We calculated diagnostic yield and turnaround times (TATs). Results: Of 171 included infants that received genetic consultation 140 underwent genetic testing. As a result of testing as first tier, 13/14 patients received a genetic diagnosis from QF-PCR; 14/115 from SNP-array; 12/89 from NGS testing, of whom 4/46 were diagnosed with a small gene panel and 8/43 with a large OMIM-morbid based gene panel. Subsequent secondary or tertiary analysis and/or additional testing resulted in five more diagnoses. TATs ranged from 1 day (QF-PCR) to a median of 14 for NGS and SNP-array testing, with increasing TAT in particular when many consecutive tests were performed. Incidental findings were detected in 5/140 tested patients (3.6%). Conclusion: We recommend implementing a broad NGS gene panel in combination with CNV calling as the first tier of genetic testing for NICU patients given the often unspecific phenotypes of ill infants and the high yield of this large panel.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    URL: Article
    DOI: 10.3389/fped.2021.600556
    DOI: 10.3389/fped.2021.600556.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2711999-3
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  • 4
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    The Influence of Altered-Gravity on Bimanual Coordination: Retention and Transfer
    Frontiers Media SA ; 2022
    In:  Frontiers in Physiology Vol. 12 ( 2022-1-7)
    Details
    In: Frontiers in Physiology, Frontiers Media SA, Vol. 12 ( 2022-1-7)
    Abstract: Many of the activities associated with spaceflight require individuals to coordinate actions between the limbs (e.g., controlling a rover, landing a spacecraft). However, research investigating the influence of gravity on bimanual coordination has been limited. The current experiment was designed to determine an individual’s ability to adapt to altered-gravity when performing a complex bimanual force coordination task, and to identify constraints that influence coordination dynamics in altered-gravity. A tilt table was used to simulate gravity on Earth [90° head-up tilt (HUT)] and microgravity [6° head-down tilt (HDT)] . Right limb dominant participants ( N = 12) were required to produce 1:1 in-phase and 1:2 multi-frequency force patterns. Lissajous information was provided to guide performance. Participants performed 14, 20 s trials at 90° HUT (Earth). Following a 30-min rest period, participants performed, for each coordination pattern, two retention trials (Earth) followed by two transfer trials in simulated microgravity (6° HDT). Results indicated that participants were able to transfer their training performance during the Earth condition to the microgravity condition with no additional training. No differences between gravity conditions for measures associated with timing (interpeak interval ratio, phase angle slope ratio) were observed. However, despite the effective timing of the force pulses, there were differences in measures associated with force production (peak force, STD of peak force mean force). The results of this study suggest that Lissajous displays may help counteract manual control decrements observed during microgravity. Future work should continue to explore constraints that can facilitate or interfere with bimanual control performance in altered-gravity environments.
    Type of Medium: Online Resource
    ISSN: 1664-042X
    URL: Article
    DOI: 10.3389/fphys.2021.794705
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2564217-0
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  • 5
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    Table_1.XLSX
    Frontiers Media SA ; 2024
    In:  Frontiers in Public Health Vol. 12 ( 2024-5-7)
    Details
    In: Frontiers in Public Health, Frontiers Media SA, Vol. 12 ( 2024-5-7)
    Abstract: Mental health Applications (MH Apps) can potentially improve access to high-quality mental health care. However, the recent rapid expansion of MH Apps has created growing concern regarding their safety and effectiveness, leading to the development of AETs (Assessment and Evaluation Tools) to help guide users. This article provides a critical, mixed methods analysis of existing AETs for MH Apps by reviewing the criteria used to evaluate MH Apps and assessing their effectiveness as evaluation tools. Methods To identify relevant AETs, gray and scholarly literature were located through stakeholder consultation, Internet searching via Google and a literature search of bibliographic databases Medline, APA PsycInfo, and LISTA. Materials in English that provided a tool or method to evaluate MH Apps and were published from January 1, 2000, to January 26, 2021 were considered for inclusion. Results Thirteen relevant AETs targeted for MH Apps met the inclusion criteria. The qualitative analysis of AETs and their evaluation criteria revealed that despite purporting to focus on MH Apps, the included AETs did not contain criteria that made them more specific to MH Apps than general health applications. There appeared to be very little agreed-upon terminology in this field, and the focus of selection criteria in AETs is often IT-related, with a lesser focus on clinical issues, equity, and scientific evidence. The quality of AETs was quantitatively assessed using the AGREE II, a standardized tool for evaluating assessment guidelines. Three out of 13 AETs were deemed ‘recommended’ using the AGREE II. Discussion There is a need for further improvements to existing AETs. To realize the full potential of MH Apps and reduce stakeholders’ concerns, AETs must be developed within the current laws and governmental health policies, be specific to mental health, be feasible to implement and be supported by rigorous research methodology, medical education, and public awareness.
    Type of Medium: Online Resource
    ISSN: 2296-2565
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fpubh.2024.1196491
    DOI: 10.3389/fpubh.2024.1196491.s001
    DOI: 10.3389/fpubh.2024.1196491.s002
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2024
    detail.hit.zdb_id: 2711781-9
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  • 6
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    Optimizing the Definitions of Stroke, Transient Ischemic Attack, and Infarction for Research and Application in Clinical Practice
    Frontiers Media SA ; 2017
    In:  Frontiers in Neurology Vol. 8 ( 2017-10-18)
    Details
    In: Frontiers in Neurology, Frontiers Media SA, Vol. 8 ( 2017-10-18)
    Type of Medium: Online Resource
    ISSN: 1664-2295
    URL: Article
    DOI: 10.3389/fneur.2017.00537
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2017
    detail.hit.zdb_id: 2564214-5
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  • 7
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    DataSheet1.PDF
    Frontiers Media SA ; 2021
    In:  Frontiers in Physics Vol. 9 ( 2021-8-3)
    Details
    In: Frontiers in Physics, Frontiers Media SA, Vol. 9 ( 2021-8-3)
    Abstract: Lipids have an important role in the complex lubrication of articulating joints, however changes in lipid phase behavior that occur owing to mechanical confinement are not well understood. Here, a surface force-type apparatus has been combined with neutron reflectometry to measure confinement-induced changes in the structure of lipids, the major surface-active component of the lubricant in articulating joints. The same incompressible state was accessed under low uniaxial stress (1 bar), irrespective of whether the lipids had started out unconfined above or below the L α phase transition, and irrespective of whether they were fully or partially hydrated. In this incompressible state, the lipid component had thickened indicating extension and rearrangement of the lipid chains in response to the applied stress. The small amount of water remaining between each lipid bilayer was found to be similar for all chain lengths and starting phases. This represents the first structural evidence of the tightly bound water layer at the headgroups, which is required for hydration lubrication under load.
    Type of Medium: Online Resource
    ISSN: 2296-424X
    URL: Article
    URL: Article
    DOI: 10.3389/fphy.2021.703472
    DOI: 10.3389/fphy.2021.703472.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2721033-9
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  • 8
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    The Surgeon's Role in the Opioid Crisis: A Narrative Review and Call to Action
    Frontiers Media SA ; 2020
    In:  Frontiers in Surgery Vol. 7 ( 2020-2-18)
    Details
    In: Frontiers in Surgery, Frontiers Media SA, Vol. 7 ( 2020-2-18)
    Type of Medium: Online Resource
    ISSN: 2296-875X
    URL: Article
    DOI: 10.3389/fsurg.2020.00004
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2773823-1
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  • 9
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    From Behavioral Facilitation to Inhibition: The Neuronal Correlates of the Orienting and Reorienting of Auditory Attention
    Frontiers Media SA ; 2017
    In:  Frontiers in Human Neuroscience Vol. 11 ( 2017-06-06)
    Details
    In: Frontiers in Human Neuroscience, Frontiers Media SA, Vol. 11 ( 2017-06-06)
    Type of Medium: Online Resource
    ISSN: 1662-5161
    URL: Article
    DOI: 10.3389/fnhum.2017.00293
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2017
    detail.hit.zdb_id: 2425477-0
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  • 10
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    A multicenter, retrospective study of cardiac disease in Borzoi dogs
    Frontiers Media SA ; 2023
    In:  Frontiers in Veterinary Science Vol. 10 ( 2023-1-26)
    Details
    In: Frontiers in Veterinary Science, Frontiers Media SA, Vol. 10 ( 2023-1-26)
    Abstract: Borzoi are large, relatively uncommon sighthounds anecdotally reported to suffer from sudden death. This multicenter retrospective cohort study aimed to describe the sample of Borzoi presenting to veterinary cardiologists for evaluation, with records searched from 14 centers across a study period of up to 20 years. The study sample was comprised of 152 client-owned Borzoi, with dogs most commonly presenting for pre-breed screening in 87/152 (52%), followed by evaluation of an arrhythmia in 28/152 (18%). Of the 131/152 (86%) dogs that had an echocardiogram performed, 85/131 (65%) were structurally normal, with 40/85 (47%) structurally normal dogs having trace or mild atrioventricular valve regurgitation. Tricuspid valve dysplasia was the most commonly diagnosed congenital cardiac disease ( n = 6). Myxomatous mitral valve disease ( n = 12) and dilated cardiomyopathy ( n = 13) were diagnosed at similar frequencies, though 92% of valve disease cases were mild. Only 48/152 (32%) Borzoi had a diagnostic electrocardiogram (ECG) and/or a Holter monitor for arrhythmia screening. Despite this, ventricular arrhythmias were identified during the entirety of the available cardiac evaluation including diagnostic ECG, contemporaneous ECG monitoring during the echocardiogram, and/or Holter monitor in 25/131 (19%) dogs in which an echocardiographic diagnosis was available. Of these 25 Borzoi, 76% had minimal or no structural cardiac disease identified, and five had a family history of sudden death. A sudden death outcome was reported in 3/55 (5%) Borzoi with long-term outcome data available. In conclusion, Borzoi commonly have trace or mild atrioventricular valve insufficiencies, and may develop ventricular arrhythmias and dilated cardiomyopathy.
    Type of Medium: Online Resource
    ISSN: 2297-1769
    URL: Article
    DOI: 10.3389/fvets.2023.1102494
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2834243-4
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