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Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8–10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 prote

An experimental platform based on scaled-down unit operations combined in a plug-and-play manner enables easy and highly flexible testing of advanced biocatalytic process options such as in situ product removal (ISPR) process strategies. In such a platform, it is possible to compartmentalize different process steps while operating it as a combined system, giving the possibility to test and charact

In Parkinson’s disease, long-term dopamine replacement therapy is complicated by the appearance of L-DOPA-induced dyskinesia (LID). One major hypothesis is that LID results from an aberrant transcriptional program in striatal neurons induced by l-DOPA and triggered by the activation of ERK. To identify these genes, we performed transcriptome analyses in the striatum in 6-hydroxydopamine-lesioned m

Accurate predictions of net ecosystem productivity (NEPc) of forest ecosystems are essential for climate change decisions and requirements in the context of national forest growth and greenhouse gas inventories. However, drivers and underlying mechanisms determining NEPc (e.g., climate and nutrients) are not entirely understood yet, particularly when considering the influence of past periods. Here

Aim: Clinical seizures are common after cardiac arrest and predictive of a poor neurological outcome. Seizures may be myoclonic, tonic-clonic or a combination of seizure types. This study reports the incidence and prognostic significance of clinical seizures in the target temperature management (TTM) after cardiac arrest trial. Our hypotheses were that seizures are associated with a poor prognosis

BACKGROUND: Albuminuria in maintenance heart transplantation (HTx) is associated with poor renal response when switching to a calcineurin inhibitor (CNI)-lowered or free immunosuppressive regimen using everolimus (EVR), but the significance of albuminuria associated with EVR treatment after early CNI withdrawal in de novo HTx is unknown. METHODS: We tested if glomerular filtration rate (mGFR, meas

Gluconobacter oxydans (G. oxydans) cells together with an osmium redox polymer (ORP) [Osmium (2,2'-bipyridine)2(poly-vinylimidazole)10Cl]Cl were combined with a glassy carbon paste electrode (GCPE) to form a bioanode for a microbial fuel cell (MFC) based on G. oxydans. Although there are G.oxydans/ ORP combined bioanode in the literature, as far as it is known, this system is the first one where G

Wild waterfowl are important reservoir hosts for influenza A virus (IAV) and a potential source of spillover infections in other hosts, including poultry and swine. The emergence of highly pathogenic avian influenza (HPAI) viruses, such as H5N1 and H5N8, and subsequent spread along migratory flyways prompted the initiation of several programs in Europe, North America, and Africa to monitor circula

Although reports of pharmaceutical bioconcentration in aquatic organisms are increasing, less is known about trophic transfer in aquatic food webs. The bioaccumulation and trophodynamics of sertraline and fluoxetine, 2 selective serotonin reuptake inhibitors (SSRIs) frequently detected in aquatic environments, were tested by exposing constructed aquatic food chains to SSRIs under controlled labora

Purpose: To present data from an interim analysis of a Phase II trial designed to determine the feasibility, safety, and efficacy of individualising treatment based on renal dosimetry, by giving as many cycles as possible within a maximum renal biologically effective dose (BED). Method: Treatment was given with repeated cycles of 7.4 GBq 177Lu-DOTATATE at 8-12-week intervals. Detailed dosimetry wa

Background: The impact of perioperative care interventions on postreconstructive complications and short-term colorectal outcome in patients with anorectal malformation (ARM) type rectovestibular fistula is unknown. Methods: An ARM-Net consortium multicenter retrospective cohort study was performed including 165 patients with a rectovestibular fistula. Patient characteristics, perioperative care i

Background: In patients who recover consciousness after cardiac arrest (CA), a subsequent death from non-neurological causes may confound the assessment of long-term neurological outcome. We investigated the prevalence and causes of death after awakening (DAA) in a multicenter cohort of CA patients. Methods: Observational multicenter cohort study on patients resuscitated from CA in eight European

Background: It is of great clinical importance to exclude myocardial infarction in patients with suspected coronary artery disease who do not have stress-induced ischemia. The diagnostic use of myocardial perfusion single-photon emission computed tomography (SPECT) in this situation is sometimes complicated by attenuation artifacts that mimic myocardial infarction. Imaging in the prone position ha

Heterogeneous patterns of genomic differentiation are commonly documented between closely related populations and there is considerable interest in identifying factors that contribute to their formation. These factors could include genomic features (e.g., areas of low recombination) that promote processes like linked selection (positive or purifying selection that affects linked neutral sites) at

This paper reports the results of the study ofthe microstructural and mechanical properties ofmetal matrix composites (MMC) based on Al-Si matrix alloyandsilicon carbideparticulates. The scope of the studyis to investigate the effects of cooling rate and silicon content on the microstructure and the mechanical propertiesof MMC.Samples were cast in mouldsof different temperature in This paper reports the results of the study ofthe microstructural and mechanical properties ofmetal matrix composites (MMC) based on Al-Si matrix alloyandsilicon carbideparticulates. The scope of the studyis to investigate the effects of cooling rate and silicon content on the microstructure and the mechanical propertiesof MMC.Samples were cast in mouldsof different temperature in

OBJECTIVES: Coronary endarterectomy (CE) in coronary artery bypass grafting (CABG) is occasionally required to achieve revascularization in diffusely diseased vessels. Its beneficial effect has been questioned because of an increased risk of perioperative mortality and morbidity; however, its influence on the long-term outcome remains uncertain. The purpose of the study was to evaluate the impact

Del(5q) myelodysplastic syndromes defined by the International Prognostic Scoring System as low- or intermediate- 1-risk (lower-risk) are considered to have an indolent course; however, recent data have identified a subgroup of these patients with more aggressive disease and poorer outcomes. Using deep sequencing technology, we previously demonstrated that 18% of patients with lower-risk del(5q) m