| 1. |
- Leblond, Claire S, et al.
(författare)
-
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
- 2014
-
Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:9
-
Tidskriftsartikel (refereegranskat)abstract
- SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
|
|
| 2. |
- Amare, Azmeraw T, et al.
(författare)
-
Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder.
- 2023
-
Ingår i: Molecular psychiatry. - 1476-5578. ; 28, s. 5251-5261
-
Tidskriftsartikel (refereegranskat)abstract
- Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental healthdisorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li+PGS) in patients with BD. To gain further insights into lithium's possible molecular mechanism of action, we performed a genome-wide gene-based analysis. Using polygenic score modeling, via methods incorporating Bayesian regression and continuous shrinkage priors, Li+PGS was developed in the International Consortium of Lithium Genetics cohort (ConLi+Gen: N=2367) and replicated in the combined PsyCourse (N=89) and BipoLife (N=102) studies. The associations of Li+PGS and lithium treatment response - defined in a continuous ALDA scale and a categorical outcome (good response vs. poor response) were tested using regression models, each adjusted for the covariates: age, sex, and the first four genetic principal components. Statistical significance was determined at P<0.05. Li+PGS was positively associated with lithium treatment response in the ConLi+Gen cohort, in both the categorical (P=9.8×10-12, R2=1.9%) and continuous (P=6.4×10-9, R2=2.6%) outcomes. Compared to bipolar patients in the 1st decile of the risk distribution, individuals in the 10th decile had 3.47-fold (95%CI: 2.22-5.47) higher odds of responding favorably to lithium. The results were replicated in the independent cohorts for the categorical treatment outcome (P=3.9×10-4, R2=0.9%), but not for the continuous outcome (P=0.13). Gene-based analyses revealed 36 candidate genes that are enriched in biological pathways controlled by glutamate and acetylcholine. Li+PGS may be useful in the development of pharmacogenomic testing strategies by enabling a classification of bipolar patients according to their response to treatment.
|
|
| 3. |
- Arndt, Holger, et al.
(författare)
-
Real-time constant monitoring of fall risk index by means of fully-wireless insoles
- 2017
-
Konferensbidrag (refereegranskat)abstract
- Constant monitoring of gait in real life conditions is considered the best way to assess Fall Risk Index (FRI) since most falls happen out of the ideal conditions in which clinicians are currently analyzing the patient's behavior. This paper presents the WIISEL platform and results obtained through the use of the first full-wireless insole devices that can measure almost all gait related data directly on the feet (not in the upper part of the body as most existing wearable solutions). The platform consists of a complete tool-chain: insoles, smartphone & app, server & analysis tool, FRI estimation and user access. Results are obtained by combining parameters in a personalized way to build individual fall risk index assessed by experts with the help of data analytics. New FRI has been compared with standards that validate the quality of its prediction in a statistically significant way. That qualitatively relevant information is being provided to the platform users, being either end-users/patients, relatives or caregivers and the related clinicians to ideally assess about their long term evolution. © 2017 The authors and IOS Press.
|
|
| 4. |
- Backes, Carl, et al.
(författare)
-
Outcomes Following a Comprehensive versus a Selective Approach for Infants Born at 22 Weeks of Gestation.
- 2019
-
Ingår i: Journal of Perinatology. - : Springer Science and Business Media LLC. - 0743-8346 .- 1476-5543. ; 39:1, s. 39-47
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: To examine outcomes at two institutions with different approaches to care among infants born at 22 weeks of gestation.Study design: Retrospective, cohort study (2006–2015). Enrollment was limited to mother–infant dyads at 22 weeks of gestation. Proactive care was defined as provision of antenatal corticosteroids and neonatal resuscitation and intensive care. One center (Uppsala, Sweden; UUCH) provided proactive care to all mother–infant dyads (comprehensive center); the other center (Nationwide Children’s Hospital, USA; NCH) initiated or withheld treatment based on physician and family preferences (selective center). Differences in outcomes between the two centers were evaluated.Result: Among 112 live-born infants at 22 weeks of gestation, those treated at UUCH had in-hospital survival rates higher than those at NCH (21/40, 53% vs. 6/72, 8%; P < 0.01). Among the subgroup of infants receiving proactive care (UUCH: 40/40, 100%; NCH: 16/72, 22%) survival was higher at UUCH than at NCH (21/40, 53% vs. 3/16, 19%; P < 0.05).Conclusion: Even when mother–infant dyads were provided proactive care at NCH (selective center), survival was lower than infants provided proactive care at UUCH (comprehensive center). Differences between the approaches to care at the two centers at 22 weeks of gestation merits further investigation.
|
|
| 5. |
- Chapuis, Julien, et al.
(författare)
-
Genome-wide, high-content siRNA screening identifies the Alzheimer’s genetic risk factor FERMT2 as a major modulator of APP metabolism
- 2017
-
Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 133:6, s. 955-966
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) have identified 19 susceptibility loci for Alzheimer’s disease (AD). However, understanding how these genes are involved in the pathophysiology of AD is one of the main challenges of the “post-GWAS” era. At least 123 genes are located within the 19 susceptibility loci; hence, a conventional approach (studying the genes one by one) would not be time- and cost-effective. We therefore developed a genome-wide, high-content siRNA screening approach and used it to assess the functional impact of gene under-expression on APP metabolism. We found that 832 genes modulated APP metabolism. Eight of these genes were located within AD susceptibility loci. Only FERMT2 (a β3-integrin co-activator) was also significantly associated with a variation in cerebrospinal fluid Aβ peptide levels in 2886 AD cases. Lastly, we showed that the under-expression of FERMT2 increases Aβ peptide production by raising levels of mature APP at the cell surface and facilitating its recycling. Taken as a whole, our data suggest that FERMT2 modulates the AD risk by regulating APP metabolism and Aβ peptide production.
|
|
| 6. |
- Johnsson, Richard, et al.
(författare)
-
Reductive openings of benzylidene acetals. Kinetic studies of borane and alane activation by Lewis acids.
- 2008
-
Ingår i: Carbohydrate Research. - : Elsevier BV. - 1873-426X .- 0008-6215. ; 343, s. 2997-3000
-
Tidskriftsartikel (refereegranskat)abstract
- The reaction kinetics for a number of reductive openings of methyl 2,3-di-O-benzyl-4,6-O-benzylidene-alpha-d-glucopyranoside have been investigated. Openings to give free HO-6 (using BH(3).THF-AlCl(3)-THF or LiAlH(4)-AlCl(3)-Et(2)O) follow first order kinetics, while reactions yielding free HO-4 (using BH(3).NMe(3)-AlCl(3)-THF or BH(3).NMe(3)-BF(3).OEt(2)-THF) follow higher order kinetics. The addition of water to the BH(3).NMe(3)-AlCl(3)-THF results in faster reactions. The BH(3).SMe(2)-AlCl(3)-THF system constitutes a borderline case, yielding both free HO-6 (by a first order reaction) and free HO-4 (by a higher order reaction). These results correlate well with the concept of regioselectivity by activation of borane complexes.
|
|
| 7. |
- Joosten, Myrthe, et al.
(författare)
-
Divergence between the highly virulent zoonotic pathogen Helicobacter heilmannii and its closest relative, the low virulent Helicobacter ailurogastricus sp. nov.
- 2016
-
Ingår i: Infection and immunity. - 1098-5522. ; 84:1, s. 293-306
-
Tidskriftsartikel (refereegranskat)abstract
- Helicobacter heilmannii naturally colonizes the stomach of dogs and cats, and has been associated with gastric disorders in humans. Nine feline Helicobacter strains, classified as H. heilmannii based on ureAB and 16S rRNA gene sequences, were divided into a highly virulent and a low virulent group. The genomes of these strains were sequenced to investigate their phylogenetic relationships, to define their gene content and diversity and to determine if the differences in pathogenicity were associated with the presence/absence of potential virulence genes. The binding capacity of these helicobacters to the gastric mucosa was investigated as well.Our analyses revealed that the low virulent strains do not belong to the H. heilmannii species, but to a novel, closely related species for which we propose the name H. ailurogastricus. Several homologs of H. pylori virulence factors, such as IceA1, HrgA and jhp0562-like glycosyltransferase, are present in H. heilmannii but absent in H. ailurogastricus. Both species contain a VacA-like autotransporter, from which the passenger domain is remarkably larger for H. ailurogastricus compared to H. heilmannii. In addition, H. ailurogastricus shows clear differences in binding to the gastric mucosa compared to H. heilmannii. These findings highlight the low virulent character of this novel Helicobacter species.
|
|
| 8. |
- Kehoe, Laura, et al.
(författare)
-
Make EU trade with Brazil sustainable
- 2019
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 9. |
- Martin, Cristina, et al.
(författare)
-
Metal-biomolecule frameworks (BioMOFs) : a novel approach for "green" optoelectronic applications
- 2022
-
Ingår i: Chemical Communications. - : Royal Society of Chemistry (RSC). - 1359-7345 .- 1364-548X. ; 58:5, s. 677-680
-
Tidskriftsartikel (refereegranskat)abstract
- In this study, a water-stable microcrystalline bioMOF was synthesized, characterized, and loaded with silver ions or highly emissive rare earth (RE) metals such as Eu3+/Tb3+. The obtained materials were used as active layers in a proof-of-concept sustainable light-emitting device, highlighting the potential of bioMOFs in optoelectronic applications.
|
|
| 10. |
- Morris, Simon, et al.
(författare)
-
The ELT-MOS (MOSAIC) : towards the construction phase
- 2018
-
Ingår i: GROUND-BASED AND AIRBORNE INSTRUMENTATION FOR ASTRONOMY VII. - : SPIE-INT SOC OPTICAL ENGINEERING. - 9781510619586 ; 10702
-
Konferensbidrag (refereegranskat)abstract
- When combined with the huge collecting area of the ELT, MOSAIC will be the most effective and flexible Multi-Object Spectrograph (MOS) facility in the world, having both a high multiplex and a multi-Integral Field Unit (Multi-IFU) capability. It will be the fastest way to spectroscopically follow-up the faintest sources, probing the reionisation epoch, as well as evaluating the evolution of the dwarf mass function over most of the age of the Universe. MOSAIC will be world-leading in generating an inventory of both the dark matter (from realistic rotation curves with MOAO fed NIR IFUs) and the cool to warm-hot gas phases in z=3.5 galactic haloes (with visible wavelenth IFUs). Galactic archaeology and the first massive black holes are additional targets for which MOSAIC will also be revolutionary. MOAO and accurate sky subtraction with fibres have now been demonstrated on sky, removing all low Technical Readiness Level (TRL) items from the instrument. A prompt implementation of MOSAIC is feasible, and indeed could increase the robustness and reduce risk on the ELT, since it does not require diffraction limited adaptive optics performance. Science programmes and survey strategies are currently being investigated by the Consortium, which is also hoping to welcome a few new partners in the next two years.
|
|
| 11. |
- Murray, Fiona, et al.
(författare)
-
Stereotyped patterns of somatic hypermutation in subsets of patients with chronic lymphocytic leukemia : implications for the role of antigen selection in leukemogenesis
- 2008
-
Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 111:3, s. 1524-1533
-
Tidskriftsartikel (refereegranskat)abstract
- Somatic hypermutation (SHM) features in a series of 1967 immunoglobulin heavy chain gene (IGH) rearrangements obtained from patients with chronic lymphocytic leukemia (CLL) were examined and compared with IGH sequences from non-CLL B cells available in public databases. SHM analysis was performed for all 1290 CLL sequences in this cohort with less than 100% identity to germ line. At the cohort level, SHM patterns were typical of a canonical SHM process. However, important differences emerged from the analysis of certain subgroups of CLL sequences defined by: (1) IGHV gene usage, (2) presence of stereotyped heavy chain complementarity-determining region 3 (HCDR3) sequences, and (3) mutational load. Recurrent, "stereotyped" amino acid changes occurred across the entire IGHV region in CLL subsets carrying stereotyped HCDR3 sequences, especially those expressing the IGHV3-21 and IGHV4-34 genes. These mutations are un-derrepresented among non-CLL sequences and thus can be considered as CLL-biased. Furthermore, it was shown that even a low level of mutations may be functionally relevant, given that stereotyped amino acid changes can be found in subsets of minimally mutated cases. The precise targeting and distinctive features of somatic hypermutation (SHM) in selected subgroups of CLL patients provide further evidence for selection by specific antigenic element(s).
|
|
| 12. |
- Oji, Vinzenz, et al.
(författare)
-
Revised nomenclature and classification of inherited ichthyoses : Results of the First Ichthyosis Consensus Conference in Sorèze 2009
- 2010
-
Ingår i: The Journal of American Academy of Dermatology. - : Elsevier BV. - 0190-9622 .- 1097-6787. ; 63:4, s. 607-641
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. OBJECTIVE: We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. METHODS: The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventually leading to the First Ichthyosis Consensus Conference held in Sorèze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached. RESULTS: It was agreed that currently the nosology should remain clinically based. "Syndromic" versus "nonsyndromic" forms provide a useful major subdivision. Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, "keratinopathic ichthyosis"-under which are included epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin. "Autosomal recessive congenital ichthyosis" is proposed as an umbrella term for the harlequin ichthyosis, lamellar ichthyosis, and the congenital ichthyosiform erythroderma group. LIMITATIONS: As more becomes known about these diseases in the future, modifications will be needed. CONCLUSION: We have achieved an international consensus for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research.
|
|
| 13. |
- Quagrainie, Fanny Adams, et al.
(författare)
-
Founders' identity and international business opportunity recognition : A study of Ghanaian Women's international micro businesses
- 2023
-
Ingår i: Prsented at the 49th Conference of the European International Business Academy: "The Changing Global Power Balance: Challenges for European Firms", Lisbon, Portugal, December 15-17, 2023.
-
Konferensbidrag (refereegranskat)abstract
- Micro-women entrepreneurs' (MWEs) engagement in international business has become necessary for developing countries trying to find alternative ways of growing their economies. This article aims to study the entrepreneurial identity and international business opportunity recognition (IBOR) of women-owned Ghanaian small businesses. A qualitative research method was used to collect data from 22 MWEs. The study found an autonomous entrepreneurial identity in addition to know-how transition and solution-seeker entrepreneurs recommended by Owalla and Holmquist (2017). Regarding BOR activities, two new activities vital for entrepreneurial success but not associated with BOR - observing changing trends in their environment and talking to customers about their needs were cited. This study provides meaningful insights into entrepreneurial identities and IBOR of MWEs. The theoretical contribution is in the proposal of a new entrepreneurial identity – autonomous entrepreneurial identity and incorporation of observing changing trends in their environment and talking to customers about their needs into the Kuckertz et al. (2017) model of the dimension of opportunity recognition activities. The paper identified new entrepreneurial identity and IBOR activity relevant to the micro women entrepreneurship literature by studying MWE's micro women.
|
|
| 14. |
- Söderström, Fanny, et al.
(författare)
-
Active versus restrictive ligation strategy for patent ductus arteriosus : A retrospective two-center study of extremely preterm infants born between 22 + 0 and 25 + 6 weeks of gestational age
- 2024
-
Ingår i: Early Human Development. - : Elsevier. - 0378-3782 .- 1872-6232. ; 191
-
Tidskriftsartikel (refereegranskat)abstract
- BackgroundPatent ductus arteriosus (PDA) in premature infants is associated with adverse clinical outcomes. Mode and timing of treatment are still controversial. Data are limited in the most extremely premature infants <26 weeks of gestational age (GA), where clinical problems are most significant and patients are most vulnerable.AimsTo investigate whether different approaches to surgical closure of PDA in two large Swedish centers has an impact on clinical outcomes including mortality in extremely preterm infants born <26 weeks GA.Study designRetrospective, two-center, cohort study.SubjectsInfants born at 22+0–25+6 weeks GA between 2010 and 2016 at Uppsala University Children's Hospital (UUCH; n = 228) and Queen Silvia Children's Hospital Gothenburg (QSCHG; n = 220).Main outcome measuresSurvival, bronchopulmonary dysplasia (BPD), and retinopathy of prematurity (ROP).ResultsSurgical closure of PDA was more common and performed earlier at QSCHG (50 % vs 16 %; median age 11 vs 44 days; p < 0.01). Survival was similar in both centres. There was a higher incidence of severe BPD and longer duration of mechanical ventilation at UUCH (p < 0.01). There was a higher incidence of ROP, IVH and sepsis at QSCH (p < 0.05, p < 0.01 and p < 0.01). A sub-group analysis matching all surgically treated infants at QSCHG with infants at UUCH with the same GA showed similar results as the total cohort.ConclusionEarlier and higher rate of surgical PDA closure in this cohort of extremely preterms born <26 weeks GA did not impact mortality but was associated with lower rates of severe BPD and higher rates of severe ROP.
|
|
| 15. |
- Söderström, Fanny, et al.
(författare)
-
Active versus restrictive ligation strategy for patent ductus arteriosus - A retrospective two-center study of extremely preterm infants born between 22+0 and 25+6 weeks of gestational age
- 2024
-
Ingår i: EARLY HUMAN DEVELOPMENT. - : Elsevier. - 0378-3782 .- 1872-6232. ; 191
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Patent ductus arteriosus (PDA) in premature infants is associated with adverse clinical outcomes. Mode and timing of treatment are still controversial. Data are limited in the most extremely premature infants <26 weeks of gestational age (GA), where clinical problems are most significant and patients are most vulnerable. Aims: To investigate whether different approaches to surgical closure of PDA in two large Swedish centers has an impact on clinical outcomes including mortality in extremely preterm infants born <26 weeks GA. Study design: Retrospective, two-center, cohort study. Subjects: Infants born at 22(+0)-25(+6) weeks GA between 2010 and 2016 at Uppsala University Children's Hospital (UUCH; n = 228) and Queen Silvia Children's Hospital Gothenburg (QSCHG; n = 220). Main outcome measures: Survival, bronchopulmonary dysplasia (BPD), and retinopathy of prematurity (ROP). Results: Surgical closure of PDA was more common and performed earlier at QSCHG (50 % vs 16 %; median age 11 vs 44 days; p < 0.01). Survival was similar in both centres. There was a higher incidence of severe BPD and longer duration of mechanical ventilation at UUCH (p < 0.01). There was a higher incidence of ROP, IVH and sepsis at QSCH (p < 0.05, p < 0.01 and p < 0.01). A sub -group analysis matching all surgically treated infants at QSCHG with infants at UUCH with the same GA showed similar results as the total cohort. Conclusion: Earlier and higher rate of surgical PDA closure in this cohort of extremely preterms born <26 weeks GA did not impact mortality but was associated with lower rates of severe BPD and higher rates of severe ROP.
|
|
| 16. |
- Söderström, Fanny, et al.
(författare)
-
Early extubation is associated with shorter duration of mechanical ventilation and lower incidence of bronchopulmonary dysplasia
- 2021
-
Ingår i: Early Human Development. - : Elsevier. - 0378-3782 .- 1872-6232. ; 163
-
Tidskriftsartikel (refereegranskat)abstract
- Introduction: Respiratory care of extremely preterm infants remains a challenge. The majority require invasive mechanical ventilation (MV), which is a contributing factor in developing bronchopulmonary dysplasia (BPD). It is important to keep MV to a minimum but there have been concerns that attempting extubation too early increases the risk for atelectasis, re-intubation, and further lung trauma. The aim of this study was to compare two different approaches to extubation. Methods: Single-center, retrospective cohort study including infants born at 22 + 0-25 + 6 weeks during 2005-2009 and 2011-2015, before and after implementing guidelines recommending delayed extubation. Primary outcomes were BPD, duration of MV and length of hospital stay. Results: Eighty-eight infants in the early era and 102 infants in the late era were included. Infants in the first period were younger at first extubation attempt, and a higher number of infants were extubated within 24 h, 72 h, and one week after birth. The number of infants re-intubated and postnatal age at re-intubation did not differ between the groups. The incidence of severe BPD was 28% in the early period compared to 48% in the later (p < 0.01). Infants in the late period had longer duration of MV (17 vs 27 days, p < 0.01) but similar length of hospital stay (118 vs 123, p = 0.21). Conclusion: After implementing guidelines recommending delayed extubation, the incidence of severe BPD was higher and the duration of MV was longer. This supports the strategy to attempt extubation early even in extremely preterm infants.
|
|
| 17. |
- Söderström, Fanny, et al.
(författare)
-
Reduced rate of retinopathy of prematurity after implementing lower oxygen saturation targets.
- 2019
-
Ingår i: Journal of Perinatology. - : Springer Science and Business Media LLC. - 0743-8346 .- 1476-5543. ; 39, s. 409-414
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate an implementation of lower oxygen saturation targets with retinopathy of prematurity (ROP) as primary outcome, in infants at the lowest extreme of prematurity.Study design: Retrospective cohort including infants born at 22-25 weeks of gestation in 2005-2015 (n = 325), comparing high (87-93%) and low (85-90%) targets; infants transferred early were excluded from the main analysis to avoid bias.Results: Overall survival was 76% in high saturation era, and 69% in low saturation era (p = .17). Treatment-requiring ROP was less common in low saturation group (14% vs 28%, p < .05) with the most prominent difference in the most immature infants. Including deceased infants in the analysis, necrotizing enterocolitis was more frequent in low saturation era (21% vs 10%, p < .05).Conclusions: Implementing lower saturation targets resulted in a halved incidence of treatment-requiring ROP; the most immature infants seem to benefit the most. An association between lower oxygenation and necrotizing enterocolitis cannot be excluded.
|
|
| 18. |
- Takeuchi, Masanobu, et al.
(författare)
-
CYP2C9, VKORC1, and CYP4F2 polymorphisms and pediatric warfarin maintenance dose : a systematic review and meta-analysis
- 2020
-
Ingår i: The Pharmacogenomics Journal. - : Springer Science and Business Media LLC. - 1470-269X .- 1473-1150. ; 20:2, s. 306-319
-
Forskningsöversikt (refereegranskat)abstract
- Studies on the effect of cytochrome P450 2C9 (CYP2C9), vitamin K epoxide reductase complex subunit 1 (VKORC1), and cytochrome P450 4F2 (CYP4F2) polymorphisms on warfarin maintenance dose in children are conflicting. We conducted a systematic review and meta-analysis to evaluate the effect of these polymorphisms on warfarin maintenance dose in children. We searched relevant literature using the MEDLINE, EMBASE, and Cochrane Central Register of Controlled Trial libraries without any language restrictions from their inception to 23 July 2017. Dose differences are expressed as standardized mean difference (SMD) or mean difference (MD) with 95% confidence intervals (CI). This review was registered in the PROSPERO prospective register of systematic reviews (CRD42015016172). We included a total of nine studies (745 participants) in the meta-analysis. Patients with CYP2C9 *1/*2, *1/*3, *2/*2, *2/*3, or *3/*3 required a lower warfarin maintenance dose compared with patients with CYP2C9 *1/*1 (SMD = -0.610, 95% CI: -0.802 to -0.419, I-2 = 0%). Patients with VKORC1-1639GA or AA required a lower warfarin maintenance dose compared with patients with VKORC1-1639GG (SMD = -0.666, 95% CI: -0.887 to -0.445, I-2 = 33%). However, no associations were observed between CYP4F2 polymorphisms and warfarin maintenance dose (MD = 0.005 mg/kg/day, 95% CI: -0.006 to 0.015, I-2 = 0%). These results were not affected by a sensitivity analysis. Our meta-analysis provides evidence that CYP2C9 and VKORC1 variant statuses affect warfarin maintenance dose in children, but not CYP4F2.
|
|
| 19. |
- Tiegs, Scott D., et al.
(författare)
-
Global patterns and drivers of ecosystem functioning in rivers and riparian zones
- 2019
-
Ingår i: Science Advances. - Washington : American Association of Advancement in Science. - 2375-2548. ; 5:1
-
Tidskriftsartikel (refereegranskat)abstract
- River ecosystems receive and process vast quantities of terrestrial organic carbon, the fate of which depends strongly on microbial activity. Variation in and controls of processing rates, however, are poorly characterized at the global scale. In response, we used a peer-sourced research network and a highly standardized carbon processing assay to conduct a global-scale field experiment in greater than 1000 river and riparian sites. We found that Earth's biomes have distinct carbon processing signatures. Slow processing is evident across latitudes, whereas rapid rates are restricted to lower latitudes. Both the mean rate and variability decline with latitude, suggesting temperature constraints toward the poles and greater roles for other environmental drivers (e.g., nutrient loading) toward the equator. These results and data set the stage for unprecedented "next-generation biomonitoring" by establishing baselines to help quantify environmental impacts to the functioning of ecosystems at a global scale.
|
|
| 20. |
- Waeijen-Smit, Kiki, et al.
(författare)
-
Global mortality and readmission rates following COPD exacerbation-related hospitalisation : a meta-analysis of 65 945 individual patients
- 2024
-
Ingår i: ERJ Open Research. - : European Respiratory Society. - 2312-0541. ; 10:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background Exacerbations of COPD (ECOPD) have a major impact on patients and healthcare systems across the world. Precise estimates of the global burden of ECOPD on mortality and hospital readmission are needed to inform policy makers and aid preventive strategies to mitigate this burden. The aims of the present study were to explore global in-hospital mortality, post-discharge mortality and hospital readmission rates after ECOPD-related hospitalisation using an individual patient data meta-analysis (IPDMA) design. Methods A systematic review was performed identifying studies that reported in-hospital mortality, postdischarge mortality and hospital readmission rates following ECOPD-related hospitalisation. Data analyses were conducted using a one-stage random-effects meta-analysis model. This study was conducted and reported in accordance with the PRISMA-IPD statement. Results Data of 65 945 individual patients with COPD were analysed. The pooled in-hospital mortality rate was 6.2%, pooled 30-, 90- and 365-day post-discharge mortality rates were 1.8%, 5.5% and 10.9%, respectively, and pooled 30-, 90- and 365-day hospital readmission rates were 7.1%, 12.6% and 32.1%, respectively, with noticeable variability between studies and countries. Strongest predictors of mortality and hospital readmission included noninvasive mechanical ventilation and a history of two or more ECOPD-related hospitalisations < 12 months prior to the index event. Conclusions This IPDMA stresses the poor outcomes and high heterogeneity of ECOPD-related hospitalisation across the world. Whilst global standardisation of the management and follow-up of ECOPD-related hospitalisation should be at the heart of future implementation research, policy makers should focus on reimbursing evidence-based therapies that decrease (recurrent) ECOPD.
|
|
