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Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in thi
Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm shift has occurred in molecular genetic diagnostics, with next-generation sequencing techniques now all
Recent evidence has shown that D-amino acids are present in animals and humans in high concentrations and fulfill specific biological functions. In the central nervous system, two D-amino acids, D-serine and D-aspartate, occur in considerable concentrations. D-Serine is synthesized and metabolized endogenously and the same might account for D-aspartate. D-Serine has been studied most extensively a
Objective: We hypothesized that morphine has a depressing effect on early brain activity, assessed using quantitative aEEG/EEG parameter and depressed activity will be associated with brain volumes at term in extremely preterm infants. Study design: 174 preterm infants were enrolled in 3 European tertiary NICUs (mean GA:26 ± 1wks) and monitored during the first 72 h after birth with continuous 2 c
Pseudomyxoma Peritonei (PMP) and Peritoneal Mesothelioma (PM) are both rare peritoneal malignancies. Currently, affected patients may be treated with Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy offering long-term survival or even cure in selected patients. However, many issues regarding the optimal treatment strategy are currently under debate. To aid physicians involved in
The apparition of adaptive immunity in Gnathostomata correlates with the expansion of the E-protein family to encompass E2-2, HEB, and E2A. Within the family, E2-2 and HEB are more closely evolutionarily related but their concerted action in hematopoiesis remains to be explored. Here we show that the combined disruption of E2-2 and HEB results in failure to express the early lymphoid program in Co
The evolution of complex life over the past 600 million years was disrupted by at least five mass extinctions, one of which occurred at the close of the Triassic period. The end-Triassic extinction corresponds to a period of high atmospheric-CO 2 concentrations caused by massive volcanism and biomass burning; most extinction scenarios invoke the resulting environmental perturbations in accounting
Dopamine Neuron Diversity: Recent Advances and Current Challenges in Human Stem Cell Models and Single Cell Sequencing cells Review Dopamine Neuron Diversity: Recent Advances and Current Challenges in Human Stem Cell Models and Single Cell Sequencing Alessandro Fiorenzano * , Edoardo Sozzi, Malin Parmar and Petter Storm Citation: Fiorenzano, A.; Sozzi, E.; Parmar, M.; Storm, P. Dopamine Neuron D
Popular Abstract in Swedish I litteraturen kring marknadsföring av tjänster har det i flera sammanhang diskuterats hur tjänster baserade på kombinationer av kundmedverkan och teknologi kan erbjudas till kunden. Exempel som behandlats är bankers uttagsautomater, självbetjäning på bensinstationer och automatiska banktjänster över telefon. Innan man kan presentera sådana rekommendationer behövs det gThis doctoral thesis deals with consumers’ attitudes towards serving them-selves with machines rather than being served by personnel. Its aim is to contribute to the theory of perceived service quality by providing a better understanding of customers’ attitudes and preferences when using technology-based self-service. In addition to aspects of service dealt with by traditional service-quality rese
The complexity of the geometric and electronic structure of boron allotropes is associated with the multicentric bonding character and the consequent B polymorphism. When growth is limited to two-dimensions (2D), the structural and electronic confinement yields the borophenes family, where the interaction with the templating substrate actually determines the stability of inequivalent boron phases.
We present an efficient photon-echo experiment based on atomic frequency combs [Phys. Rev. A 79 (2009) 052329]. Echoes containing an energy of up to 35% of that of the input pulse are observed in a Pr3+ -doped Y2SiO5 crystal. This material allows for the precise spectral holeburning needed to make a sharp and highly absorbing comb structure. We compare our results with a simple theoretical model w
Objective In patients with Crohn’s disease (CD) on combination therapy (infliximab and immunosuppressant) and stopping infliximab (cohort from the study of infliximab diSconTinuation in CrOhn’s disease patients in stable Remission on combined therapy with Immunosuppressors (STORI)), the risk of short-term (≤6 months) and mid/long-term relapse (>6 months) was associated with distinct blood protein
Longitudinal Metabolome-Wide Signals Prior to the Appearance of a First Islet Autoantibody in Children Participating in the TEDDY Study Longitudinal Metabolome-Wide Signals Prior to the Appearance of a First Islet Autoantibody in Children Participating in the TEDDY Study Qian Li,1 Hemang Parikh,1 Martha D. Butterworth,1 Åke Lernmark,2 William Hagopian,3 Marian Rewers,4 Jin-Xiong She,5 Jorma Toppar
https://www.teddy.lu.se/sites/teddy.lu.se/files/117_mp224_li_et_al._metabolomics_diabetes.pdf - 2026-07-22
Background: Increasing obesity in adults with mobility disability has become a considerable health problem, similar to the increasing trend of obesity in the general population. The aims of this study were to investigate the association of mobility disability with overweight status and obesity in a large population-based Swedish cohort of adults, and to investigate whether mobility disability, hig
Objectives: To investigate whether low self-rated health (SRH) is associated with increased mortality in individuals with diabetes. Design: Population-based prospective cohort study. Setting: Enrolment took place between 1992 and 2000 in four centres (Bilthoven, Heidelberg, Potsdam, Umea) in a subcohort nested in the European Prospective Investigation into Cancer and Nutrition. Participants: 3257
Infantile malignant osteopetrosis (IMO) is caused by lack of functional osteoclasts leading to skeletal abnormalities, blindness due to compression of the optic nerves, bone marrow (BM) failure and early death. In most patients TCIRG1, a proton pump subunit essential for bone resorption, is mutated. Oc/oc mice represent a model for IMO due to a deletion in Tcirg1 and die around 4 weeks. To determi
This systematic review was designed to provide more precise effect estimates of inhibitor development for the various types of F8 gene mutations in patients with severe hemophilia A. The primary outcome was inhibitor development and the secondary outcome was high-titer-inhibitor development. Asystematic literature search was performed to include cohort studies published in peer-reviewed journals w
Impaired interatrial conduction or interatrial block is well documented but is not described as an individual electrocardiographic (ECG) pattern in most of ECG books, although the term atrial abnormalities to encompass both concepts, left atrial enlargement (LAE) and interatrial block, has been coined. In fact, LAE and interatrial block are often associated, similarly to what happens with ventricu
