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Background Progressive keratoconus can lead to severely impaired vision, but there is currently no consensus on the definition of progressive disease. Errors in the measurement of the parameters commonly used to establish progressive disease were evaluated in an attempt to determine the limits at which a true change in the values can be detected. The possible association between measurement error

Against the backdrop of the conflict with Russia and growing approximation with the European Union (EU), the LGBTI movement in Ukraine seemed to have achieved some of its political goals, such as introducing changes in legislation and holding peaceful equality marches in Kyiv. At the same time, the last decade has seen a growing number of homophobic attacks by right-wing groups across the country,

Several natural and artificial structures, such as human skin and mammals cortices, exhibit a compound organization, with basic elements being distributed along a surface. The problem of quantifying the geometrical uniformity of this type of biological and physical compound structures is addressed in this work. This required the solution of several problems, including the detection, along the surf

Dermal substitutes are of major importance in treating full thickness skin defects. They come in a variety of materials manufactured into various forms, such as films, hydrocolloids, hydrogels, sponges, membranes, and electrospun micro- and nanofibers. Bioactive dermal substitutes act in wound healing either by delivery of bioactive compounds or by being constructed from materials having endogenou

We used remote sensing, geographical information systems, Google Earth™ images, and regional geology in order to (i) improve the mapping of linear structures and understand the chronology of different mafic dyke swarms in the Ahmeyim area that belongs to the Archean Tasiast-Tijirit Terrane of the Reguibat Shield, West African craton, NW Mauritania. The spatial and temporal distributions with the t

Introduction: In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been reported in literature. Here, we provide a

The thesis explains the design, fabrication, vertical test, higher order mode (HOM) and field emission study of the ESS superconducting medium beta (MB) cavity. The ESS MB cavity is a 6-cell elliptical cavity. The main criteria for a multicell elliptical cavity design are explained. The multicell elliptical cavity fabrication process is discussed. The vertical test results of the MB cavity are exp

To land, flying animals must simultaneously reduce speed and control their path to the target. While the control of approach speed has been studied in many different animals, little is known about the effect of target size on landing, particularly for small targets that require precise trajectory control. To begin to explore this, we recorded the stingless bees Scaptotrigona depilis landing on the

In the last decades, the frequency and intensity of cyanobacterial blooms have been of increasing concern. They have become a direct threat to the drinking water supply by clogging filters, bringing odour and unpleasant taste to the treated water and worst of all, causing elevated cyanotoxins, which can be difficult to remove, yet lead to severe health issues. This thesis aims to present a compreh

Three speakers engaged with theatre in different ways (professor, director, actor, lecturer, philosopher) got inspired by the dialogical structure of Brecht’s Buying Brass and staged a similarly structured conversation. This conversation imitated the way how thespians and intellectual met in Brecht’s original text, but it was thematically focused on the current socio-cultural context. The research

To elucidate the role of D-serine in human central nervous system, we analyzed D-serine, L-serine, and glycine concentrations in cerebrospinal fluid of healthy children and children with a defective L-serine biosynthesis (3-phosphoglycerate dehydrogenase deficiency). Healthy children showed high D-serine concentrations immediately after birth, both absolutely and relative to glycine and L-serine,

Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive development during childhood. Children with inborn errors of amino acid metabolism represent a risk population for a reduced LCPUFA status because their diet is low in EFAs and LCPUFAs. We have investigated the EFA and LCPUFA status of children wi

Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3-phosphoglycera

In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydrat

In a previous study, Dutch children with phenylketonuria (PKU) were found to be slightly shorter than their healthy counterparts. In the literature, it has been hypothesized that a higher protein intake is necessary to optimize growth in PKU patients. The study aimed to investigate whether protein intake (total, natural and protein substitute) in this group might be an explanatory factor for the o

We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.

Background: Multiple Acyl-CoA-Dehydrogenase deficiency (MADD) is an inherited metabolic disorder characterized by impaired oxidation of fatty acids and some amino acids. Methods: We were interested whether children with MADD could tolerate a prolonged low-intensity exercise test and if this test could have any additional diagnostic value. Therefore, we performed a maximal exercise test and a low-i