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In the present study the role of cAMP for axonal outgrowth and Schwann cell proliferation was studying using the cultured frog sciatic nerve. An intrinsic rise in nerve injury, both in vitro and in vivo. Treatment with 0.1‐1.0μM forskolin, an activator of the cAMP‐generating enzyme adenylyl cyclase, increased the cAMP content up to 13‐fold, but was yet without effect on axonal outgrowth during an
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
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
We present a newborn with glutathione synthetase deficiency and intracranial haemorrhages. Because the latter are rare in term newborns a possible relationship with glutathione synthetase deficiency will be discussed.
We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in the differential diagnosis of this rare clinical entity.
Purpose of review: Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by defects in the biosynthesis of the amino acid L-serine. In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Furthermore, the severe neurological symptoms observed in patients underscore the important roles of the serine biosynthetic pathw
Resting energy expenditure (REE) was investigated in 8 children with propionic and methylmalonic acidaemias because a lowered REE has been reported in the literature. We observed a marginally elevated REE and think that adequate caloric intake and the use of a synthetic amino acid mixture are responsible for this.
