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Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all

In wavefield signal apparition, acquisition with periodic variations in source activation parameters shifts all or part of a signal cone out to, e.g., the Nyquist wavenumber, enabling perfect separation of simultaneous-source (sim-source) data below a certain temporal frequency. Cyclic convolution in the spatial frequency domain is used to generalise the signal apparition concept to the case of ap

Rapid deforestation has been well-documented in Colombia after the 2016 peace agreement with FARC. While many analysis using remote sensing identify land cover change, structural connectivity variables are less studied for understanding landscape transformation. In this work, we used data from the Landsat archive from 2011 to 2021, the Continuous Change Detection and Classification algorithm (CCDC

Elaborating on conceptualizations of kitsch in the realm of art and sociology in the context of ISIS propaganda and culture, this article introduces the concept of jihadi kitsch. Kitsch is characterized by a compulsion to escape from the banality of daily reality and lack of coherent meaning in modern society through, in the words of the philosopher and sociologist Theodor Adorno, a self-made and Elaborating on conceptualizations of kitsch in the realm of art and sociology in the context of ISIS propaganda and culture, this article introduces the concept of jihadi kitsch. Kitsch is characterized by a compulsion to escape from the banality of daily reality and lack of coherent meaning in modern society through, in the words of the philosopher and sociologist Theodor Adorno, a self-made and

The PNPLA3 I148M variant is the major genetic risk factor for all stages of fatty liver disease, but the underlying pathophysiology remains unclear. We studied the effect of this variant on hepatic metabolism in homozygous carriers and non-carriers under multiple physiological conditions with state-of-the-art stable isotope techniques. After an overnight fast, carriers had higher plasma β-hydroxyb