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- Becker, Joel, et al.
(author)
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Resource profile and user guide of the Polygenic Index Repository
- 2021
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In: Nature Human Behaviour. - : Nature Research (part of Springer Nature). - 2397-3374. ; 51:6, s. 694-695
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Journal article (peer-reviewed)abstract
- Polygenic indexes (PGIs) are DNA-based predictors. Their value for research in many scientific disciplines is growing rapidly. As a resource for researchers, we used a consistent methodology to construct PGIs for 47 phenotypes in 11 datasets. To maximize the PGIs’ prediction accuracies, we constructed them using genome-wide association studies—some not previously published—from multiple data sources, including 23andMe and UK Biobank. We present a theoretical framework to help interpret analyses involving PGIs. A key insight is that a PGI can be understood as an unbiased but noisy measure of a latent variable we call the ‘additive SNP factor’. Regressions in which the true regressor is this factor but the PGI is used as its proxy therefore suffer from errors-in-variables bias. We derive an estimator that corrects for the bias, illustrate the correction, and make a Python tool for implementing it publicly available. © 2021, The Author(s), under exclusive licence to Springer Nature Limited.
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- Linnér, E., et al.
(author)
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Multichannel fluctuating field approach to competing instabilities in interacting electronic systems
- 2023
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In: Physical Review B. - 2469-9950. ; 108:3
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Journal article (peer-reviewed)abstract
- Systems with strong electronic Coulomb correlations often display rich phase diagrams exhibiting different ordered phases involving spin, charge, or orbital degrees of freedom. The theoretical description of the interplay of the corresponding collective fluctuations giving rise to this phenomenology, however, remains a tremendous challenge. Here, we introduce a multichannel extension of the recently developed fluctuating field approach to competing collective fluctuations in correlated electron systems. The method is based on a variational optimization of a trial action that explicitly contains the order parameters of the leading fluctuation channels. It gives direct access to the free energy of the system, facilitating the distinction between stable and metastable phases of the system. We apply our approach to the extended Hubbard model in the weak to intermediate coupling regime where we find it to capture the interplay of competing charge density wave and antiferromagnetic fluctuations with qualitative agreement with more computationally expensive methods. The multichannel fluctuating field approach thus offers a promising route for a numerically low-cost treatment of the interplay between collective fluctuations in small to large systems.
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- Aquilano, G, et al.
(author)
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Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
- 2022
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In: Frontiers in pediatrics. - : Frontiers Media SA. - 2296-2360. ; 10, s. 940103-
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Journal article (other academic/artistic)abstract
- Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initially missed or delayed. We report a fatal case of a boy who was initially diagnosed with respiratory distress, birth asphyxia, and persistent pulmonary hypertension and whose condition rapidly deteriorated during the first day of life.
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- Linner, A, et al.
(author)
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Immediate parent-infant skin-to-skin study (IPISTOSS): study protocol of a randomised controlled trial on very preterm infants cared for in skin-to-skin contact immediately after birth and potential physiological, epigenetic, psychological and neurodevelopmental consequences
- 2020
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In: BMJ OPEN. - : BMJ. - 2044-6055. ; 10:7
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Journal article (other academic/artistic)abstract
- In Scandinavia, 6% of infants are born preterm, before 37 gestational weeks. Instead of continuing in the in-utero environment, maturation needs to occur in a neonatal unit with support of vital functions, separated from the mother’s warmth, nutrition and other benefits. Preterm infants face health and neurodevelopment challenges that may also affect the family and society at large. There is evidence of benefit from immediate and continued skin-to-skin contact (SSC) for term and moderately preterm infants and their parents but there is a knowledge gap on its effect on unstable very preterm infants when initiated immediately after birth.Methods and analysisIn this ongoing randomised controlled trial from Stavanger, Norway and Stockholm, Sweden, we are studying 150 infants born at 28+0 to 32+6 gestational weeks, randomised to receive care immediately after birth in SSC with a parent or conventionally in an incubator. The primary outcome is cardiorespiratory stability according to the stability of the cardiorespiratory system in the preterm score. Secondary outcomes are autonomic stability, thermal control, infection control, SSC time, breastfeeding and growth, epigenetic profile, microbiome profile, infant behaviour, stress resilience, sleep integrity, cortical maturation, neurodevelopment, mother-infant attachment and attunement, and parent experience and mental health.Ethics and disseminationThe study has ethical approval from the Swedish Ethical Review Authority (2017/1135-31/3, 2019–03361) and the Norwegian Regional Ethical Committee (2015/889). The study is conducted according to good clinical practice and the Helsinki declaration. The results of the study will increase the knowledge about the mechanisms behind the effects of SSC for very preterm infants by dissemination to the scientific community through articles and at conferences, and to the society through parenting classes and magazines.Study statusRecruiting since April 2018. Expected trial termination June 2021.Trial registration numberNCT03521310 (ClinicalTrials.gov).
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- Linnér, E., et al.
(author)
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Coexistence of s -wave superconductivity and phase separation in the half-filled extended Hubbard model with attractive interactions
- 2023
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In: Physical Review B. - 2469-9950. ; 108:20
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Journal article (peer-reviewed)abstract
- Understanding competing instabilities in systems with correlated fermions remains one of the holy grails of modern condensed matter physics. Among the fermionic lattice models used to this effect, the extended Hubbard model occupies a prime place due to the potential relevance of its repulsive and attractive versions for both electronic materials and artificial systems. Using the recently introduced multichannel fluctuating field approach, we address the interplay of fluctuations in the charge density wave, s-wave superconducting, and phase separation channels in the attractive extended Hubbard model. Despite the fact that this model has been intensively studied for decades, our approach allows us to identify a phase that has not been analyzed before and which is characterized by the coexistence of collective s-wave superconducting and phase separation fluctuations. Our findings resonate with previous observations of interplaying phase separation and superconducting phases in electronic systems, most importantly in high-temperature superconductors.
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- Oldendorff, F, et al.
(author)
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Case Report: Fatal Outcome for a Preterm Newborn With Meningitis Caused by Extended-Spectrum β-Lactamase-Producing Escherichia coli Sequence Type 1193
- 2022
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In: Frontiers in pediatrics. - : Frontiers Media SA. - 2296-2360. ; 10, s. 866762-
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Journal article (other academic/artistic)abstract
- In this case report, we describe an extended-spectrum beta-lactamase (ESBL) – Escherichia coli (E. coli) strain of sequence type (ST) 1193, a novel, virulent, multidrug-resistant (MDR) clone with a rapid global spread. ST 1193 has been more commonly associated with invasive disease than other ESBL-E. coli STs. To our knowledge, this is the first known case in Sweden where a newborn died of an ESBL-E. coli ST 1193 meningitis. We emphasize that the clinical knowledge about the properties of certain MDR-clones should be increased.Case ReportA moderately preterm boy was born after preterm prolonged rupture of membranes. The mother had an ESBL-E. coli urinary tract infection during pregnancy. At 36 h of age he developed signs of infection and was given first-line therapy for early onset sepsis. Thereafter he developed seizures. The treatment was changed to cover suspected meningitis. Culture showed growth of the same ESBL- E. coli ST 1193 strain in the child’s blood and cerebrospinal fluid, as well as in the mother’s urine. Antibiotics were adapted. His condition deteriorated and he developed fulminant septic shock with treatment-resistant seizures. The boy passed away at 3 days of age.ConclusionThis case highlights the risk of delay in diagnosis when a marking for carriage of MDR-bacteria is falsely removed from a medical record of a pregnant women. Further, it demonstrates that ESBL-E. coli ST 1193 infection in neonates can be fatal. Thus, studies regarding virulence factors of ESBL-E. coli infections in pregnant women and their children are needed to understand the association between this infection and severe invasive disease in newborn children.
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