| 1. |
- Brownstein, Catherine A., et al.
(författare)
-
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
-
Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
-
Tidskriftsartikel (refereegranskat)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
|
|
| 2. |
- Bellm, Johannes, et al.
(författare)
-
Jet cross sections at the LHC and the quest for higher precision
- 2020
-
Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 80:2
-
Tidskriftsartikel (refereegranskat)abstract
- We perform a phenomenological study of Z plus jet, Higgs plus jet and di-jet production at the Large Hadron Collider. We investigate in particular the dependence of the leading jet cross section on the jet radius as a function of the jet transverse momentum. Theoretical predictions are obtained using perturbative QCD calculations at the next-to and next-to-next-to-leading order, using a range of renormalization and factorization scales. The fixed order predictions are compared to results obtained from matching next-to-leading order calculations to parton showers. A study of the scale dependence as a function of the jet radius is used to provide a better estimate of the scale uncertainty for small jet sizes. The non-perturbative corrections as a function of jet radius are estimated from different generators.
|
|
| 3. |
- Glas, Gerie J., et al.
(författare)
-
Ventilation practices in burn patients-an international prospective observational cohort study
- 2021
-
Ingår i: BURNS & TRAUMA. - : Oxford University Press. - 2321-3868 .- 2321-3876. ; 9
-
Tidskriftsartikel (refereegranskat)abstract
- Background: It is unknown whether lung-protective ventilation is applied in burn patients and whether they benefit from it. This study aimed to determine ventilation practices in burn intensive care units (ICUs) and investigate the association between lung-protective ventilation and the number of ventilator-free days and alive at day 28 (VFD-28). Methods: This is an international prospective observational cohort study including adult burn patients requiring mechanical ventilation. Low tidal volume (V-T) was defined as V-T <= 8 mL/kg predicted body weight (PBW). Levels of positive end-expiratory pressure (PEEP) and maximum airway pressures were collected. The association between V-T and VFD-28 was analyzed using a competing risk model. Ventilation settings were presented for all patients, focusing on the first day of ventilation. We also compared ventilation settings between patients with and without inhalation trauma. Results: A total of 160 patients from 28 ICUs in 16 countries were included. Low V-T was used in 74% of patients, median V-T size was 7.3 [interquartile range (IQR) 6.2-8.3] mL/kg PBW and did not differ between patients with and without inhalation trauma (p= 0.58). Median VFD-28 was 17 (IQR 0-26), without a difference between ventilation with low or high V-T (p= 0.98). All patients were ventilated with PEEP levels >= 5 cmH(2)O; 80% of patients had maximum airway pressures <30 cmH(2)O. Conclusion: In this international cohort study we found that lung-protective ventilation is used in the majority of burn patients, irrespective of the presence of inhalation trauma. Use of low V-T was not associated with a reduction in VFD-28.
|
|
| 4. |
- Hagara, Jakub, et al.
(författare)
-
Novel highly substituted thiophene-based n-type organic semiconductor : structural study, optical anisotropy and molecular control
- 2020
-
Ingår i: CrystEngComm. - : Royal Society of Chemistry. - 1466-8033. ; 22:42, s. 7095-7103
-
Tidskriftsartikel (refereegranskat)abstract
- Oligothiophenes and their functionalized derivatives have been shown to be a viable option for high-performance organic electronic devices. The functionalization of oligothiophene-based materials allows further tailoring of their properties for specific applications. We have synthesized a new thiophene-based molecule 1-[5'-(2-naphthyl)-2,2'-bithiophen-5-yl]hexan-1-one (NCOH), and we have studied the optical and structural properties of NCOH thin films. NCOH is a highly substituted member of the oligothiophene family, designed to improve its molecular stacking, where the presence of an electron-withdrawing group enhances its electron transport capabilities. Employing in situ and time-resolved grazing-incidence wide-angle X-ray scattering (GIWAXS) measurements, we determined the NCOH thin film crystallographic structure and its evolution starting from the early stages of the film growth. We observed strong optical anisotropy resulting from a highly oriented crystallographic structure. Additionally, we investigated the substrate-induced changes of the molecular orientation utilizing the few-layer MoS2 with different orientations of the atomic layers. This study, with its primary focus on the fundamentally important n-type molecular semiconductor, contributes to the field of organic-based (opto-)electronics.
|
|
| 5. |
- Karlsson, Matilda, et al.
(författare)
-
Biosynthetic cellulose compared to porcine xenograft in the treatment of partial-thickness burns : A randomised clinical trial.
- 2022
-
Ingår i: Burns. - : Elsevier. - 0305-4179 .- 1879-1409. ; 48:5, s. 1236-1245
-
Tidskriftsartikel (refereegranskat)abstract
- AIM: The aim was to compare two dressing treatments for partial-thickness burns: biosynthetic cellulose dressing (BsC) (Epiprotect® S2Medical AB, Linköping, Sweden) and porcine xenograft (EZ Derm®, Mölnlycke Health Care, Gothenburg, Sweden).METHODS: Twenty-four adults with partial-thickness burns were included in this randomized clinical trial conducted at The Burn Centers in Linköping and Uppsala, Sweden between June 2016 and November 2018. Time to healing was the primary outcome. Secondary outcomes were wound infection, pain, impact on everyday life, length of hospital stay, cost, and burn scar outcome (evaluated with POSAS).RESULTS: We found no significant differences between the two dressing groups regarding time to healing, wound infection, pain, impact on everyday life, duration of hospital stay, cost, or burn scar outcome at the first follow up. Burn scar outcome at the 12-month follow up showed that the porcine xenograft group patients scored their scars higher on the POSAS items thickness (p = 0.048) and relief (p = 0.050). This difference was, however, not confirmed by the observer.CONCLUSIONS: The results showed the dressings performed similarly when used in adults with burns evaluated as partial thickness.
|
|
| 6. |
- Kieft, Kristopher, et al.
(författare)
-
Virus-associated organosulfur metabolism in human and environmental systems
- 2021
-
Ingår i: Cell Reports. - : Cell Press. - 2211-1247. ; 36:5
-
Tidskriftsartikel (refereegranskat)abstract
- Viruses influence the fate of nutrients and human health by killing microorganisms and altering metabolic processes. Organosulfur metabolism and biologically derived hydrogen sulfide play dynamic roles in manifestation of diseases, infrastructure degradation, and essential biological processes. Although microbial organosulfur metabolism is well studied, the role of viruses in organosulfur metabolism is unknown. Here, we report the discovery of 39 gene families involved in organosulfur metabolism encoded by 3,749 viruses from diverse ecosystems, including human microbiomes. The viruses infect organisms from all three domains of life. Six gene families encode for enzymes that degrade organosulfur compounds into sulfide, whereas others manipulate organosulfur compounds and may influence sulfide production. We show that viral metabolic genes encode key enzymatic domains, are translated into protein, and are maintained after recombination, and sulfide provides a fitness advantage to viruses. Our results reveal viruses as drivers of organosulfur metabolism with important implications for human and environmental health.
|
|
| 7. |
|
|
| 8. |
- Kozlov, Alexander, et al.
(författare)
-
Simple cellular and network control principles govern complex patterns of motor behavior
- 2009
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 106:47, s. 20027-20032
-
Tidskriftsartikel (refereegranskat)abstract
- The vertebrate central nervous system is organized in modules that independently execute sophisticated tasks. Such modules are flexibly controlled and operate with a considerable degree of autonomy. One example is locomotion generated by spinal central pattern generator networks (CPGs) that shape the detailed motor output. The level of activity is controlled from brainstem locomotor command centers, which in turn, are under the control of the basal ganglia. By using a biophysically detailed, full-scale computational model of the lamprey CPG (10,000 neurons) and its brainstem/forebrain control, we demonstrate general control principles that can adapt the network to different demands. Forward or backward locomotion and steering can be flexibly controlled by local synaptic effects limited to only the very rostral part of the network. Variability in response properties within each neuronal population is an essential feature and assures a constant phase delay along the cord for different locomotor speeds.
|
|
| 9. |
- Weydt, Patrick, et al.
(författare)
-
Neurofilament Levels as Biomarkers in Asymptomatic and Symptomatic Familial Amyotrophic Lateral Sclerosis
- 2016
-
Ingår i: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 79:1, s. 152-158
-
Tidskriftsartikel (refereegranskat)abstract
- Neurofilaments are elevated in the cerebrospinal fluid (CSF) and serum of amyotrophic lateral sclerosis (ALS) patients. However, timing of this increase is unknown. To characterize the premanifest disease phase, we performed a cross-sectional study on asymptomatic (n=12) and symptomatic (n=64) ALS mutation carriers and family controls (n=19). Neurofilaments NF-L (neurofilament-light chain) and pNF-H (phosphorylated neurofilament-heavy chain) are normal before symptom onset and increased by at least an order of magnitude at early symptom onset in CSF (pNF-H) or serum and CSF (NF-L). Thus, blood and CSF neurofilament levels are linked to the symptomatic phase of ALS and might serve as objective markers of structural damage to the nervous system.
|
|
